From
Achilles
Fitness scores for cell ltrong>introng>es followtrong>introng>g strong>introng>gle gene knockdowns
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From
BioGPS
mRNA expression profiles for the NCI-60 panel of cancer cell ltrong>introng>es
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From
BioGPS
mRNA expression profiles for human tissues and cell types
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From
BioGPS
mRNA expression profiles for mouse tissues and cell types
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From
Human Proteome Map
Protetrong>introng> expression profiles for tissues and cell types
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From
Proteomics Database
Protetrong>introng> expression profiles for tissues and cell types reprocessed from many proteomics datasets
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From
Sanger Cancer Dependency Map
Protetrong>introng> trong>introng>tensity values acquired ustrong>introng>g data-trong>introng>dependent acquisition mass spectrometry (DIA-MS).
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From
Tabula Sapiens
Gene expression data from Tabula Sapiens scRNA-seq counts
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From
CellMarker
Cell type markers across various tissues from human and mouse scRNA-seq
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From
Replogle et al., Cell, 2022
Gene expression profiles trong>introng> the K562 cell ltrong>introng>e followtrong>introng>g CRISPRi genetic perturbation
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From
Replogle et al., Cell, 2022
Gene expression profiles trong>introng> the K562 cell ltrong>introng>e followtrong>introng>g CRISPRi genetic perturbation of essential genes
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From
Replogle et al., Cell, 2022
Gene expression profiles trong>introng> the RPE1 cell ltrong>introng>e followtrong>introng>g CRISPRi genetic perturbation of essential genes
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From
Cell Maps for AI
Protetrong>introng> localization assemblies constructed from trong>introng>tegrattrong>introng>g AP-MS biomolecular trong>introng>teraction and IF imagtrong>introng>g data
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From
Cell Maps for AI
Gene expression profiles trong>introng> the KOLF2.1J cell ltrong>introng>e followtrong>introng>g CRISPRi genetic perturbation
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T cell trong>receptortrong> trong>betatrong> jotrong>introng>trong>introng>g 2-4
Predicted to be trong>introng>volved trong>introng> adaptive immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell trong>receptortrong> complex. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> jotrong>introng>trong>introng>g 2-5
Predicted to be trong>introng>volved trong>introng> adaptive immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell trong>receptortrong> complex. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> jotrong>introng>trong>introng>g 2-6
Predicted to be trong>introng>volved trong>introng> adaptive immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell trong>receptortrong> complex. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> jotrong>introng>trong>introng>g 2-7
Predicted to be trong>introng>volved trong>introng> adaptive immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell trong>receptortrong> complex. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> jotrong>introng>trong>introng>g 2-1
Predicted to be trong>introng>volved trong>introng> adaptive immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell trong>receptortrong> complex. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> jotrong>introng>trong>introng>g 2-2
Predicted to be trong>introng>volved trong>introng> adaptive immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell trong>receptortrong> complex. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> jotrong>introng>trong>introng>g 2-3
Predicted to be trong>introng>volved trong>introng> adaptive immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell trong>receptortrong> complex. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 20-1
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 6-8
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 6-9
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 6-5
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 6-6
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 6-7 (non-functional)
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 6-2 (gene/pseudogene)
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 6-3
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> constant 1
Predicted to be trong>introng>volved trong>introng> T cell trong>receptortrong> signaltrong>introng>g pathway; adaptive immune response; and alpha-trong>betatrong> T cell activation. Predicted to be located trong>introng> membrane. Predicted to be part of alpha-trong>betatrong> T cell trong>receptortrong> complex. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> constant 2
Predicted to be trong>introng>volved trong>introng> T cell trong>receptortrong> signaltrong>introng>g pathway; adaptive immune response; and alpha-trong>betatrong> T cell activation. Part of alpha-trong>betatrong> T cell trong>receptortrong> complex. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 21-1 (pseudogene)
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T cell trong>receptortrong> trong>betatrong> variable 23/OR9-2 (non-functional)
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T cell trong>receptortrong> trong>betatrong> variable 30 (gene/pseudogene)
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 3-1
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 7-9
Predicted to enable MHC protetrong>introng> btrong>introng>dtrong>introng>g activity and peptide antigen btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 7-8
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 7-1 (non-functional)
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 7-3
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 7-2
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 7-5 (pseudogene)
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T cell trong>receptortrong> trong>betatrong> variable 7-4 (gene/pseudogene)
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 7-7
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 7-6
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 21/OR9-2 (pseudogene)
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T cell trong>receptortrong> trong>betatrong> diversity 1
Predicted to be trong>introng>volved trong>introng> adaptive immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell trong>receptortrong> complex. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> jotrong>introng>trong>introng>g 2-2P (non-functional)
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T cell trong>receptortrong> trong>betatrong> variable 11-3
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 11-1
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 24-1
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 10-2
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 10-3
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 10-1(gene/pseudogene)
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 25-1
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 17 (non-functional)
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 16 (gene/pseudogene)
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 15
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 14
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 13
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 19
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Part of alpha-trong>betatrong> T cell trong>receptortrong> complex. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 18
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable A/OR9-2 (pseudogene)
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T cell trong>receptortrong> trong>betatrong> variable 6-4
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 6-1
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 28
Predicted to enable peptide antigen btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 26 (pseudogene)
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T cell trong>receptortrong> trong>betatrong> variable 20/OR9-2 (non-functional)
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 25/OR9-2 (pseudogene)
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T cell trong>receptortrong> trong>betatrong> variable 22/OR9-2 (pseudogene)
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T cell trong>receptortrong> trong>betatrong> variable 22-1 (pseudogene)
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T cell trong>receptortrong> trong>betatrong> variable 11-2
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 4-2
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 4-3
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 4-1
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 5-7 (non-functional)
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 5-6
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 5-5
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 5-4
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 5-3 (non-functional)
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 5-2 (pseudogene)
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T cell trong>receptortrong> trong>betatrong> variable 5-1
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 5-8
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> diversity 2
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T cell trong>receptortrong> trong>betatrong> variable 8-2 (pseudogene)
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T cell trong>receptortrong> trong>betatrong> variable 8-1 (pseudogene)
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T cell trong>receptortrong> trong>betatrong> variable 26/OR9-2 (pseudogene)
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T cell trong>receptortrong> trong>betatrong> locus
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> trong>betatrong> locus. The trong>betatrong> locus trong>introng>cludes V (variable), J (jotrong>introng>trong>introng>g), diversity (D), and C (constant) segments. Durtrong>introng>g T cell development, the trong>betatrong> trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Several V segments and one J segment of the trong>betatrong> locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. The trong>betatrong> locus also trong>introng>cludes eight trypstrong>introng>ogen genes, three of which encode functional protetrong>introng>s and five of which are pseudogenes. Chromosomal abnormalities trong>introng>volvtrong>introng>g the T-cell trong>receptortrong> trong>betatrong> locus have been associated with T-cell lymphomas. [provided by RefSeq, Jul 2008]
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T cell trong>receptortrong> trong>betatrong> jotrong>introng>trong>introng>g 1-6
Predicted to be trong>introng>volved trong>introng> adaptive immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell trong>receptortrong> complex. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> jotrong>introng>trong>introng>g 1-5
Predicted to be trong>introng>volved trong>introng> adaptive immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell trong>receptortrong> complex. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> jotrong>introng>trong>introng>g 1-4
Predicted to be trong>introng>volved trong>introng> adaptive immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell trong>receptortrong> complex. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> jotrong>introng>trong>introng>g 1-3
Predicted to be trong>introng>volved trong>introng> adaptive immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell trong>receptortrong> complex. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> jotrong>introng>trong>introng>g 1-2
Predicted to be trong>introng>volved trong>introng> adaptive immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell trong>receptortrong> complex. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> jotrong>introng>trong>introng>g 1-1
Predicted to be trong>introng>volved trong>introng> adaptive immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell trong>receptortrong> complex. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 23-1 (non-functional)
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be located trong>introng> immunological synapse. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 27
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 3-2 (pseudogene)
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T cell trong>receptortrong> trong>betatrong> variable 12-4
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 12-5
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 12-1 (pseudogene)
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T cell trong>receptortrong> trong>betatrong> variable 12-2 (pseudogene)
Predicted to be trong>introng>volved trong>introng> immune system process. Predicted to be located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 12-3
Predicted to enable MHC protetrong>introng> btrong>introng>dtrong>introng>g activity and peptide antigen btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 9
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 2
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> trong>betatrong> variable 1 (pseudogene)
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T cell trong>receptortrong> trong>betatrong> variable C
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T cell trong>receptortrong> trong>betatrong> variable B (pseudogene)
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T cell trong>receptortrong> trong>betatrong> variable A (pseudogene)
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T cell trong>receptortrong> trong>betatrong> variable 29/OR9-2 (non-functional)
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T cell trong>receptortrong> trong>betatrong> variable 24/OR9-2 (pseudogene)
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T cell trong>receptortrong> trong>betatrong> variable 29-1
Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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microtubule-associated protetrong>introng> 1 light trong>chatrong>introng>trong> 3 trong>betatrong> 2
Predicted to enable microtubule btrong>introng>dtrong>introng>g activity; phosphatidylethanolamtrong>introng>e btrong>introng>dtrong>introng>g activity; and ubiquittrong>introng> protetrong>introng> ligase btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> cellular response to nitrogen starvation and macroautophagy. Located trong>introng> trong>introng>tracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Mar 2025]
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myostrong>introng>, heavy trong>chatrong>introng>trong> 7B, cardiac muscle, trong>betatrong>
The myostrong>introng> II molecule is a multi-subunit complex consisttrong>introng>g of two heavy trong>chatrong>introng>trong>s and four light trong>chatrong>introng>trong>s. This gene encodes a heavy trong>chatrong>introng>trong> of myostrong>introng> II, which is a member of the motor-domatrong>introng> superfamily. The heavy trong>chatrong>introng>trong> trong>introng>cludes a globular motor domatrong>introng>, which catalyzes ATP hydrolysis and trong>introng>teracts with acttrong>introng>, and a tail domatrong>introng> trong>introng> which heptad repeat sequences promote dimerization by trong>introng>teracttrong>introng>g to form a rod-like alpha-helical coiled coil. This heavy trong>chatrong>introng>trong> subunit is a slow-twitch myostrong>introng>. Alternatively spliced transcript variants have been found, but the full-length nature of these variants is not determtrong>introng>ed. [provided by RefSeq, Mar 2010]
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tubultrong>introng> trong>betatrong>-7 trong>chatrong>introng>trong>-like
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fibrtrong>introng>ogen trong>betatrong> trong>chatrong>introng>trong>
The protetrong>introng> encoded by this gene is the trong>betatrong> component of fibrtrong>introng>ogen, a blood-borne glycoprotetrong>introng> comprised of three pairs of nonidentical polypeptide trong>chatrong>introng>trong>s. Followtrong>introng>g vascular trong>introng>jury, fibrtrong>introng>ogen is cleaved by thrombtrong>introng> to form fibrtrong>introng> which is the most abundant component of blood clots. trong>Introng> addition, various cleavage products of fibrtrong>introng>ogen and fibrtrong>introng> regulate cell adhesion and spreadtrong>introng>g, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Fibrtrong>introng>ogen serves key roles trong>introng> hemostasis and antimicrobial host defense. Mutations trong>introng> this gene lead to several disorders, trong>introng>cludtrong>introng>g afibrtrong>introng>ogenemia, dysfibrtrong>introng>ogenemia, hypodysfibrtrong>introng>ogenemia and thrombotic tendency. [provided by RefSeq, Aug 2020]
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DLA class II histocompatibility antigen, DR-1 trong>betatrong> trong>chatrong>introng>trong>-like
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tubultrong>introng> trong>betatrong>-8 trong>chatrong>introng>trong>-like
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DLA class II histocompatibility antigen, DR-1 trong>betatrong> trong>chatrong>introng>trong>-like
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DLA class II histocompatibility antigen, DR-1 trong>betatrong> trong>chatrong>introng>trong>-like
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microtubule-associated protetrong>introng> 1 light trong>chatrong>introng>trong> 3 trong>betatrong> pseudogene 1
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microtubule-associated protetrong>introng> 1 light trong>chatrong>introng>trong> 3 trong>betatrong> pseudogene
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DLA class II histocompatibility antigen, DR-1 trong>betatrong> trong>chatrong>introng>trong>-like
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microtubule-associated protetrong>introng> 1 light trong>chatrong>introng>trong> 3 trong>betatrong> pseudogene
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microtubule-associated protetrong>introng> 1 light trong>chatrong>introng>trong> 3 trong>betatrong>
The product of this gene is a subunit of neuronal microtubule-associated MAP1A and MAP1B protetrong>introng>s, which are trong>introng>volved trong>introng> microtubule assembly and important for neurogenesis. Studies on the rat homolog implicate a role for this gene trong>introng> autophagy, a process that trong>introng>volves the bulk degradation of cytoplasmic component. [provided by RefSeq, Jul 2008]
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DLA class II histocompatibility antigen, DR-1 trong>betatrong> trong>chatrong>introng>trong>-like
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branched trong>chatrong>introng>trong> keto acid dehydrogenase E1, trong>betatrong> polypeptide
This gene encodes the E1 trong>betatrong> subunit of branched-trong>chatrong>introng>trong> keto acid dehydrogenase, which is a multienzyme complex associated with the trong>introng>ner membrane of mitochondria. This enzyme complex functions trong>introng> the catabolism of branched-trong>chatrong>introng>trong> amtrong>introng>o acids. Mutations trong>introng> this gene have been associated with maple syrup urtrong>introng>e disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urtrong>introng>e trong>introng> addition to mental and physical retardation and feedtrong>introng>g problems. Alternative splictrong>introng>g at this locus results trong>introng> multiple transcript variants. [provided by RefSeq, Jan 2016]
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HLA class II histocompatibility antigen, DRB1-7 trong>betatrong> trong>chatrong>introng>trong>
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tubultrong>introng> trong>betatrong>-8 trong>chatrong>introng>trong>-like
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myostrong>introng>, heavy trong>chatrong>introng>trong> 7, cardiac muscle, trong>betatrong>
Muscle myostrong>introng> is a hexameric protetrong>introng> contatrong>introng>trong>introng>g 2 heavy trong>chatrong>introng>trong> subunits, 2 alkali light trong>chatrong>introng>trong> subunits, and 2 regulatory light trong>chatrong>introng>trong> subunits. This gene encodes the trong>betatrong> (or slow) heavy trong>chatrong>introng>trong> subunit of cardiac myostrong>introng>. It is expressed predomtrong>introng>antly trong>introng> normal human ventricle. It is also expressed trong>introng> skeletal muscle tissues rich trong>introng> slow-twitch type I muscle fibers. Changes trong>introng> the relative abundance of this protetrong>introng> and the alpha (or fast) heavy subunit of cardiac myostrong>introng> correlate with the contractile velocity of cardiac muscle. Its expression is also altered durtrong>introng>g thyroid hormone depletion and hemodynamic overloadtrong>introng>g. Mutations trong>introng> this gene are associated with familial hypertrophic cardiomyopathy, myostrong>introng> storage myopathy, dilated cardiomyopathy, and Latrong>introng>g distal myopathy. [provided by RefSeq, May 2022]
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microtubule-associated protetrong>introng> 1 light trong>chatrong>introng>trong> 3 trong>betatrong> pseudogene
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trong>introng>tegrtrong>introng>, trong>betatrong> 1 (fibronecttrong>introng> trong>receptortrong>, trong>betatrong> polypeptide, antigen CD29 trong>introng>cludes MDF2, MSK12)
trong>Introng>tegrtrong>introng>s are heterodimeric protetrong>introng>s made up of alpha and trong>betatrong> subunits. At least 18 alpha and 8 trong>betatrong> subunits have been described trong>introng> mammals. trong>Introng>tegrtrong>introng> family members are membrane trong>receptortrong>s trong>introng>volved trong>introng> cell adhesion and recognition trong>introng> a variety of processes trong>introng>cludtrong>introng>g embryogenesis, hemostasis, tissue repair, immune response and metastatic diffusion of tumor cells. This gene encodes a trong>betatrong> subunit. Multiple alternatively spliced transcript variants which encode different protetrong>introng> isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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signal sequence trong>receptortrong>, trong>betatrong> (translocon-associated protetrong>introng> trong>betatrong>)
The signal sequence trong>receptortrong> (SSR) is a glycosylated endoplasmic reticulum (ER) membrane trong>receptortrong> associated with protetrong>introng> translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotetrong>introng> (alpha-SSR or SSR1) and a 22-kD glycoprotetrong>introng> (trong>betatrong>-SSR or SSR2). The human trong>betatrong>-signal sequence trong>receptortrong> gene (SSR2) maps to chromosome bands 1q21-q23. [provided by RefSeq, Jul 2008]
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pancreatic trong>betatrong> cell glycoprotetrong>introng> 1
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par-3 family cell polarity regulator trong>betatrong>
Predicted to enable phosphatidyltrong>introng>ositol btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g establishment of cell polarity; establishment of centrosome localization; and establishment or matrong>introng>tenance of epithelial cell apical/basal polarity. Located trong>introng> cell junction. Part of protetrong>introng>-contatrong>introng>trong>introng>g complex. [provided by Alliance of Genome Resources, Mar 2025]
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par-6 family cell polarity regulator trong>betatrong>
This gene is a member of the PAR6 family and encodes a protetrong>introng> with a PSD95/Discs-large/ZO1 (PDZ) domatrong>introng>, an OPR domatrong>introng> and a semi-Cdc42/Rac trong>introng>teractive btrong>introng>dtrong>introng>g (CRIB) domatrong>introng>. This cytoplasmic protetrong>introng> is trong>introng>volved trong>introng> asymmetrical cell division and cell polarization processes as a member of a multi-protetrong>introng> complex. [provided by RefSeq, Jul 2008]
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par-6 family cell polarity regulator trong>betatrong> pseudogene
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Pancreatic trong>betatrong> cell, agenesis of
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transcription factor AP-2 trong>betatrong> (activattrong>introng>g enhancer btrong>introng>dtrong>introng>g protetrong>introng> 2 trong>betatrong>)
This gene encodes a member of the AP-2 family of transcription factors. AP-2 protetrong>introng>s form homo- or hetero-dimers with other AP-2 family members and btrong>introng>d specific DNA sequences. They are thought to stimulate cell proliferation and suppress termtrong>introng>al differentiation of specific cell types durtrong>introng>g embryonic development. Specific AP-2 family members differ trong>introng> their expression patterns and btrong>introng>dtrong>introng>g afftrong>introng>ity for different promoters. This protetrong>introng> functions as both a transcriptional activator and repressor. Mutations trong>introng> this gene result trong>introng> autosomal domtrong>introng>ant Char syndrome, suggesttrong>introng>g that this gene functions trong>introng> the differentiation of neural crest cell derivatives. [provided by RefSeq, Jul 2008]
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mannosyl (trong>betatrong>-1,4-)-glycoprotetrong>introng> trong>betatrong>-1,4-N-acetylglucosamtrong>introng>yltransferase
There are believed to be over 100 different glycosyltransferases trong>introng>volved trong>introng> the synthesis of protetrong>introng>-bound and lipid-bound oligosaccharides. The enzyme encoded by this gene transfers a GlcNAc residue to the trong>betatrong>-ltrong>introng>ked mannose of the trimannosyl core of N-ltrong>introng>ked oligosaccharides and produces a bisecttrong>introng>g GlcNAc. Multiple alternatively spliced variants, encodtrong>introng>g the same protetrong>introng>, have been identified. [provided by RefSeq, Jul 2008]
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coatomer protetrong>introng> complex, subunit trong>betatrong> 2 (trong>betatrong> prime)
The Golgi coatomer complex (see MIM 601924) constitutes the coat of nonclathrtrong>introng>-coated vesicles and is essential for Golgi buddtrong>introng>g and vesicular trafficktrong>introng>g. It consists of 7 protetrong>introng> subunits, trong>introng>cludtrong>introng>g COPB2.[supplied by OMIM, Jul 2002]
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dopamtrong>introng>e trong>betatrong>-hydroxylase (dopamtrong>introng>e trong>betatrong>-monooxygenase)
The protetrong>introng> encoded by this gene is an oxidoreductase belongtrong>introng>g to the copper type II, ascorbate-dependent monooxygenase family. The encoded protetrong>introng>, expressed trong>introng> neuroscretory vesicles and chromafftrong>introng> granules of the adrenal medulla, catalyzes the conversion of dopamtrong>introng>e to noreptrong>introng>ephrtrong>introng>e, which functions as both a hormone and as the matrong>introng> neurotransmitter of the sympathetic nervous system. The enzyme encoded by this gene exists exists trong>introng> both soluble and membrane-bound forms, dependtrong>introng>g on the absence or presence, respectively, of a signal peptide. Mutations trong>introng> this gene cause dopamtrong>introng>e trong>betatrong>-hydroxylate deficiency trong>introng> human patients, characterized by deficits trong>introng> autonomic and cardiovascular function, trong>introng>cludtrong>introng>g hypotension and ptosis. Polymorphisms trong>introng> this gene may play a role trong>introng> a variety of psychiatric disorders. [provided by RefSeq, Aug 2017]
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lncRNA trong>introng>duced by TGF-trong>betatrong> and antagonizes TGF-trong>betatrong> signaltrong>introng>g 1
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T cell trong>receptortrong> alpha variable 23/delta variable 6
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 32
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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killer cell immunoglobultrong>introng>-like trong>receptortrong> 3DL1
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killer cell immunoglobultrong>introng>-like trong>receptortrong>, three domatrong>introng>s, X1
Predicted to be trong>introng>volved trong>introng> immune response-regulattrong>introng>g signaltrong>introng>g pathway. Predicted to be located trong>introng> extracellular region. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> gamma jotrong>introng>trong>introng>g 2
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T cell trong>receptortrong> gamma jotrong>introng>trong>introng>g 1
Predicted to be trong>introng>volved trong>introng> adaptive immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell trong>receptortrong> complex. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> gamma jotrong>introng>trong>introng>g P
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 29
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 28
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 27
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 26
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 25 (non-functional)
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 24
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 23
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 22
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 21
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 20
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 5
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 29/delta variable 5 (gene/pseudogene)
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> gamma variable 5P (pseudogene)
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CD244 molecule, natural killer cell trong>receptortrong> 2B4
This gene encodes a cell surface trong>receptortrong> expressed on natural killer (NK) cells (and some T cells) that mediate non-major histocompatibility complex (MHC) restricted killtrong>introng>g. The trong>introng>teraction between NK-cell and target cells via this trong>receptortrong> is thought to modulate NK-cell cytolytic activity. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
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T cell trong>receptortrong> gamma variable 10 (non-functional)
Predicted to be trong>introng>volved trong>introng> adaptive immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell trong>receptortrong> complex. [provided by Alliance of Genome Resources, Mar 2025]
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killer cell immunoglobultrong>introng>-like trong>receptortrong> 2DL2
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killer cell lecttrong>introng>-like trong>receptortrong> subfamily G, member 1
Natural killer (NK) cells are lymphocytes that can mediate lysis of certatrong>introng> tumor cells and virus-trong>introng>fected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. The protetrong>introng> encoded by this gene belongs to the killer cell lecttrong>introng>-like trong>receptortrong> (KLR) family, which is a group of transmembrane protetrong>introng>s preferentially expressed trong>introng> NK cells. Studies trong>introng> mice suggested that the expression of this gene may be regulated by MHC class I molecules. [provided by RefSeq, Jun 2016]
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T cell trong>receptortrong> alpha variable 14/delta variable 4
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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killer cell lecttrong>introng>-like trong>receptortrong> subfamily G, member 2
Predicted to enable carbohydrate btrong>introng>dtrong>introng>g activity. Predicted to be located trong>introng> membrane. [provided by Alliance of Genome Resources, Mar 2025]
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killer cell lecttrong>introng>-like trong>receptortrong> subfamily B, member 1
Natural killer (NK) cells are lymphocytes that mediate cytotoxicity and secrete cytoktrong>introng>es after immune stimulation. Several genes of the C-type lecttrong>introng> superfamily, trong>introng>cludtrong>introng>g the rodent NKRP1 family of glycoprotetrong>introng>s, are expressed by NK cells and may be trong>introng>volved trong>introng> the regulation of NK cell function. The KLRB1 protetrong>introng> contatrong>introng>s an extracellular domatrong>introng> with several motifs characteristic of C-type lecttrong>introng>s, a transmembrane domatrong>introng>, and a cytoplasmic domatrong>introng>. The KLRB1 protetrong>introng> is classified as a type II membrane protetrong>introng> because it has an external C termtrong>introng>us. [provided by RefSeq, Jul 2008]
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killer cell immunoglobultrong>introng>-like trong>receptortrong> 2DS1
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 16
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 17
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 14
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 15
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 12
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 13
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 10
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 11
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 18
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 19 (non-functional)
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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killer cell immunoglobultrong>introng>-like trong>receptortrong>, two domatrong>introng>s, short cytoplasmic tail, 5
Killer cell immunoglobultrong>introng>-like trong>receptortrong>s (KIRs) are transmembrane glycoprotetrong>introng>s expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found trong>introng> a cluster on chromosome 19q13.4 withtrong>introng> the 1 Mb leukocyte trong>receptortrong> complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found trong>introng> all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR protetrong>introng>s are classified by the number of extracellular immunoglobultrong>introng> domatrong>introng>s (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domatrong>introng>. KIR protetrong>introng>s with the long cytoplasmic domatrong>introng> transduce trong>introng>hibitory signals upon ligand btrong>introng>dtrong>introng>g via an immune tyrostrong>introng>e-based trong>introng>hibitory motif (ITIM), while KIR protetrong>introng>s with the short cytoplasmic domatrong>introng> lack the ITIM motif and trong>introng>stead associate with the TYRO protetrong>introng> tyrostrong>introng>e ktrong>introng>ase btrong>introng>dtrong>introng>g protetrong>introng> to transduce activattrong>introng>g signals. The ligands for several KIR protetrong>introng>s are subsets of HLA class I molecules; thus, KIR protetrong>introng>s are thought to play an important role trong>introng> regulation of the immune response. [provided by RefSeq, Jul 2008]
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killer cell immunoglobultrong>introng>-like trong>receptortrong>, three domatrong>introng>s, pseudogene
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killer cell immunoglobultrong>introng>-like trong>receptortrong>, two domatrong>introng>s, short cytoplasmic tail, 2
Killer cell immunoglobultrong>introng>-like trong>receptortrong>s (KIRs) are transmembrane glycoprotetrong>introng>s expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found trong>introng> a cluster on chromosome 19q13.4 withtrong>introng> the 1 Mb leukocyte trong>receptortrong> complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found trong>introng> all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR protetrong>introng>s are classified by the number of extracellular immunoglobultrong>introng> domatrong>introng>s (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domatrong>introng>. KIR protetrong>introng>s with the long cytoplasmic domatrong>introng> transduce trong>introng>hibitory signals upon ligand btrong>introng>dtrong>introng>g via an immune tyrostrong>introng>e-based trong>introng>hibitory motif (ITIM), while KIR protetrong>introng>s with the short cytoplasmic domatrong>introng> lack the ITIM motif and trong>introng>stead associate with the TYRO protetrong>introng> tyrostrong>introng>e ktrong>introng>ase btrong>introng>dtrong>introng>g protetrong>introng> to transduce activattrong>introng>g signals. The ligands for several KIR protetrong>introng>s are subsets of HLA class I molecules; thus, KIR protetrong>introng>s are thought to play an important role trong>introng> regulation of the immune response. This gene represents a haplotype-specific family member that encodes a protetrong>introng> with a short cytoplasmic tail. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Apr 2014]
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T cell trong>receptortrong> alpha variable 20
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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natural killer cell cytotoxicity trong>receptortrong> 3 ligand 1
B7H6 belongs to the B7 family (see MIM 605402) and is selectively expressed on tumor cells. trong>Introng>teraction of B7H6 with NKp30 (NCR3; MIM 611550) results trong>introng> natural killer (NK) cell activation and cytotoxicity (Brandt et al., 2009 [PubMed 19528259]).[supplied by OMIM, Jan 2011]
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killer cell immunoglobultrong>introng>-like trong>receptortrong>, three domatrong>introng>s, long cytoplasmic tail, 1
Killer cell immunoglobultrong>introng>-like trong>receptortrong>s (KIRs) are transmembrane glycoprotetrong>introng>s expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found trong>introng> a cluster on chromosome 19q13.4 withtrong>introng> the 1 Mb leukocyte trong>receptortrong> complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found trong>introng> all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR protetrong>introng>s are classified by the number of extracellular immunoglobultrong>introng> domatrong>introng>s (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domatrong>introng>. KIR protetrong>introng>s with the long cytoplasmic domatrong>introng> transduce trong>introng>hibitory signals upon ligand btrong>introng>dtrong>introng>g via an immune tyrostrong>introng>e-based trong>introng>hibitory motif (ITIM), while KIR protetrong>introng>s with the short cytoplasmic domatrong>introng> lack the ITIM motif and trong>introng>stead associate with the TYRO protetrong>introng> tyrostrong>introng>e ktrong>introng>ase btrong>introng>dtrong>introng>g protetrong>introng> to transduce activattrong>introng>g signals. The ligands for several KIR protetrong>introng>s are subsets of HLA class I molecules; thus, KIR protetrong>introng>s are thought to play an important role trong>introng> regulation of the immune response. [provided by RefSeq, Jul 2008]
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killer cell immunoglobultrong>introng>-like trong>receptortrong>, three domatrong>introng>s, long cytoplasmic tail, 2
Killer cell immunoglobultrong>introng>-like trong>receptortrong>s (KIRs) are transmembrane glycoprotetrong>introng>s expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found trong>introng> a cluster on chromosome 19q13.4 withtrong>introng> the 1 Mb leukocyte trong>receptortrong> complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found trong>introng> all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR protetrong>introng>s are classified by the number of extracellular immunoglobultrong>introng> domatrong>introng>s (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domatrong>introng>. KIR protetrong>introng>s with the long cytoplasmic domatrong>introng> transduce trong>introng>hibitory signals upon ligand btrong>introng>dtrong>introng>g via an immune tyrostrong>introng>e-based trong>introng>hibitory motif (ITIM), while KIR protetrong>introng>s with the short cytoplasmic domatrong>introng> lack the ITIM motif and trong>introng>stead associate with the TYRO protetrong>introng> tyrostrong>introng>e ktrong>introng>ase btrong>introng>dtrong>introng>g protetrong>introng> to transduce activattrong>introng>g signals. The ligands for several KIR protetrong>introng>s are subsets of HLA class I molecules; thus, KIR protetrong>introng>s are thought to play an important role trong>introng> regulation of the immune response. This gene is one of the `framework` loci that is present on all haplotypes. Alternatively spliced transcript variants encodtrong>introng>g multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2011]
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killer cell immunoglobultrong>introng>-like trong>receptortrong>, three domatrong>introng>s, long cytoplasmic tail, 3
Killer cell immunoglobultrong>introng>-like trong>receptortrong>s (KIRs) are transmembrane glycoprotetrong>introng>s expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found trong>introng> a cluster on chromosome 19q13.4 withtrong>introng> the 1 Mb leukocyte trong>receptortrong> complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found trong>introng> all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR protetrong>introng>s are classified by the number of extracellular immunoglobultrong>introng> domatrong>introng>s (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domatrong>introng>. KIR protetrong>introng>s with the long cytoplasmic domatrong>introng> transduce trong>introng>hibitory signals upon ligand btrong>introng>dtrong>introng>g via an immune tyrostrong>introng>e-based trong>introng>hibitory motif (ITIM), while KIR protetrong>introng>s with the short cytoplasmic domatrong>introng> lack the ITIM motif and trong>introng>stead associate with the TYRO protetrong>introng> tyrostrong>introng>e ktrong>introng>ase btrong>introng>dtrong>introng>g protetrong>introng> to transduce activattrong>introng>g signals. The ligands for several KIR protetrong>introng>s are subsets of HLA class I molecules; thus, KIR protetrong>introng>s are thought to play an important role trong>introng> regulation of the immune response. This gene is one of the `framework` loci that is present on all haplotypes. [provided by RefSeq, Jul 2008]
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killer cell immunoglobultrong>introng>-like trong>receptortrong> 2DS3 allele 0020101
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T cell trong>receptortrong> gamma jotrong>introng>trong>introng>g P2
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T cell trong>receptortrong> gamma jotrong>introng>trong>introng>g P1
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T cell trong>receptortrong> delta variable 1
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> delta variable 3
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> delta variable 2
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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pre T-cell antigen trong>receptortrong> alpha
The protetrong>introng> encoded by this gene is a strong>introng>gle-pass type I membrane protetrong>introng> that is found trong>introng> immmature but not mature T-cells. Along with TCRB and CD3 complex, the encoded protetrong>introng> forms the pre-T-cell trong>receptortrong> complex, which regulates early T-cell development. Four transcript variants encodtrong>introng>g different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]
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T cell trong>receptortrong> alpha variable 36/delta variable 7
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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killer cell immunoglobultrong>introng>-like trong>receptortrong>, two domatrong>introng>s, short cytoplasmic tail, 4
Killer cell immunoglobultrong>introng>-like trong>receptortrong>s (KIRs) are transmembrane glycoprotetrong>introng>s expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found trong>introng> a cluster on chromosome 19q13.4 withtrong>introng> the 1 Mb leukocyte trong>receptortrong> complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found trong>introng> all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR protetrong>introng>s are classified by the number of extracellular immunoglobultrong>introng> domatrong>introng>s (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domatrong>introng>. KIR protetrong>introng>s with the long cytoplasmic domatrong>introng> transduce trong>introng>hibitory signals upon ligand btrong>introng>dtrong>introng>g via an immune tyrostrong>introng>e-based trong>introng>hibitory motif (ITIM), while KIR protetrong>introng>s with the short cytoplasmic domatrong>introng> lack the ITIM motif and trong>introng>stead associate with the TYRO protetrong>introng> tyrostrong>introng>e ktrong>introng>ase btrong>introng>dtrong>introng>g protetrong>introng> to transduce activattrong>introng>g signals. The ligands for several KIR protetrong>introng>s are subsets of HLA class I molecules; thus, KIR protetrong>introng>s are thought to play an important role trong>introng> regulation of the immune response. [provided by RefSeq, Jul 2008]
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killer cell immunoglobultrong>introng>-like trong>receptortrong>, two domatrong>introng>s, short cytoplasmic tail, 3
Killer cell immunoglobultrong>introng>-like trong>receptortrong>s (KIRs) are transmembrane glycoprotetrong>introng>s expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found trong>introng> a cluster on chromosome 19q13.4 withtrong>introng> the 1 Mb leukocyte trong>receptortrong> complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found trong>introng> all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR protetrong>introng>s are classified by the number of extracellular immunoglobultrong>introng> domatrong>introng>s (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domatrong>introng>. KIR protetrong>introng>s with the long cytoplasmic domatrong>introng> transduce trong>introng>hibitory signals upon ligand btrong>introng>dtrong>introng>g via an immune tyrostrong>introng>e-based trong>introng>hibitory motif (ITIM), while KIR protetrong>introng>s with the short cytoplasmic domatrong>introng> lack the ITIM motif and trong>introng>stead associate with the TYRO protetrong>introng> tyrostrong>introng>e ktrong>introng>ase btrong>introng>dtrong>introng>g protetrong>introng> to transduce activattrong>introng>g signals. The ligands for several KIR protetrong>introng>s are subsets of HLA class I molecules; thus, KIR protetrong>introng>s are thought to play an important role trong>introng> regulation of the immune response. [provided by RefSeq, Jul 2008]
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killer cell immunoglobultrong>introng>-like trong>receptortrong>, two domatrong>introng>s, short cytoplasmic tail, 1
Killer cell immunoglobultrong>introng>-like trong>receptortrong>s (KIRs) are transmembrane glycoprotetrong>introng>s expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found trong>introng> a cluster on chromosome 19q13.4 withtrong>introng> the 1 Mb leukocyte trong>receptortrong> complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found trong>introng> all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR protetrong>introng>s are classified by the number of extracellular immunoglobultrong>introng> domatrong>introng>s (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domatrong>introng>. KIR protetrong>introng>s with the long cytoplasmic domatrong>introng> transduce trong>introng>hibitory signals upon ligand btrong>introng>dtrong>introng>g via an immune tyrostrong>introng>e-based trong>introng>hibitory motif (ITIM), while KIR protetrong>introng>s with the short cytoplasmic domatrong>introng> lack the ITIM motif and trong>introng>stead associate with the TYRO protetrong>introng> tyrostrong>introng>e ktrong>introng>ase btrong>introng>dtrong>introng>g protetrong>introng> to transduce activattrong>introng>g signals. The ligands for several KIR protetrong>introng>s are subsets of HLA class I molecules; thus, KIR protetrong>introng>s are thought to play an important role trong>introng> regulation of the immune response. [provided by RefSeq, Jul 2008]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 49
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 48
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 41
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 40
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 43
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 42
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 45
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 44
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 47
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 46
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> gamma constant 1
Enables small molecule btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> T cell trong>receptortrong> signaltrong>introng>g pathway; adaptive immune response; and gamma-delta T cell activation. Predicted to act upstream of or withtrong>introng> homeostasis of number of cells withtrong>introng> a tissue. Predicted to be located trong>introng> membrane. Predicted to be part of gamma-delta T cell trong>receptortrong> complex. Predicted to be active trong>introng> external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> gamma constant 2
Predicted to enable transmembrane signaltrong>introng>g trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> T cell trong>receptortrong> signaltrong>introng>g pathway and adaptive immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of gamma-delta T cell trong>receptortrong> complex. Predicted to be active trong>introng> external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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B-cell trong>receptortrong>-associated protetrong>introng> 31
This gene encodes a member of the B-cell trong>receptortrong> associated protetrong>introng> 31 superfamily. The encoded protetrong>introng> is a multi-pass transmembrane protetrong>introng> of the endoplasmic reticulum that is trong>introng>volved trong>introng> the anterograde transport of membrane protetrong>introng>s from the endoplasmic reticulum to the Golgi and trong>introng> caspase 8-mediated apoptosis. Microdeletions trong>introng> this gene are associated with contiguous ABCD1/DXS1375E deletion syndrome (CADDS), a neonatal disorder. Alternative splictrong>introng>g of this gene results trong>introng> multiple transcript variants. Two related pseudogenes have been identified on chromosome 16. [provided by RefSeq, Jan 2012]
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T cell trong>receptortrong> alpha variable 38-2/delta variable 8
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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killer cell lecttrong>introng>-like trong>receptortrong> subfamily A pseudogene 1
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B-cell trong>receptortrong>-associated protetrong>introng> 31 pseudogene 1
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T cell trong>receptortrong> alpha variable 31 (pseudogene)
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 30
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 31
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 33
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 34
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 35 (non-functional)
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 36
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 37
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 38
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 39
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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killer cell immunoglobultrong>introng>-like trong>receptortrong>, three domatrong>introng>s, short cytoplasmic tail, 1
Killer cell immunoglobultrong>introng>-like trong>receptortrong>s (KIRs) are transmembrane glycoprotetrong>introng>s expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found trong>introng> a cluster on chromosome 19q13.4 withtrong>introng> the 1 Mb leukocyte trong>receptortrong> complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found trong>introng> all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR protetrong>introng>s are classified by the number of extracellular immunoglobultrong>introng> domatrong>introng>s (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domatrong>introng>. KIR protetrong>introng>s with the long cytoplasmic domatrong>introng> transduce trong>introng>hibitory signals upon ligand btrong>introng>dtrong>introng>g via an immune tyrostrong>introng>e-based trong>introng>hibitory motif (ITIM), while KIR protetrong>introng>s with the short cytoplasmic domatrong>introng> lack the ITIM motif and trong>introng>stead associate with the TYRO protetrong>introng> tyrostrong>introng>e ktrong>introng>ase btrong>introng>dtrong>introng>g protetrong>introng> to transduce activattrong>introng>g signals. The ligands for several KIR protetrong>introng>s are subsets of HLA class I molecules; thus, KIR protetrong>introng>s are thought to play an important role trong>introng> regulation of the immune response. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]
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T cell trong>receptortrong> alpha variable 2
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 3 (gene/pseudogene)
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 4
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 6
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 7
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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non-specific cytotoxic cell trong>receptortrong> protetrong>introng> 1 homolog (zebrafish)
Predicted to contribute to ubiquittrong>introng> protetrong>introng> ligase activity. trong>Introng>volved trong>introng> positive regulation of cell population proliferation. Located trong>introng> cytosol. [provided by Alliance of Genome Resources, Mar 2025]
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natural killer cell triggertrong>introng>g trong>receptortrong>
This gene encodes a membrane-anchored protetrong>introng> with a hydrophobic amtrong>introng>o termtrong>introng>al domatrong>introng> and a cyclophiltrong>introng>-like PPIase domatrong>introng>. It is present on the surface of natural killer cells and facilitates their btrong>introng>dtrong>introng>g to targets. Its expression is regulated by IL2 activation of the cells. [provided by RefSeq, Jul 2008]
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T cell trong>receptortrong> alpha variable 22
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 21
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 27
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 25
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 24
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 28 (pseudogene)
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> delta diversity 3
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> delta diversity 2
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> delta diversity 1
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> delta constant
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> gamma locus antisense RNA 1
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T cell trong>receptortrong> gamma variable 6 (pseudogene)
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T cell trong>receptortrong> gamma variable 7 (pseudogene)
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T cell trong>receptortrong> gamma variable 4
Predicted to be trong>introng>volved trong>introng> adaptive immune response and trong>introng>nate immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> gamma variable 5
Predicted to be trong>introng>volved trong>introng> adaptive immune response and trong>introng>nate immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> gamma variable 2
Predicted to be trong>introng>volved trong>introng> adaptive immune response and trong>introng>nate immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> gamma variable 3
Predicted to enable MHC protetrong>introng> btrong>introng>dtrong>introng>g activity and peptide antigen btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> gamma variable 1 (non-functional)
Predicted to be trong>introng>volved trong>introng> adaptive immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> gamma variable 8
Predicted to be trong>introng>volved trong>introng> adaptive immune response and trong>introng>nate immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> gamma variable 9
Predicted to enable MHC protetrong>introng> btrong>introng>dtrong>introng>g activity and peptide antigen btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> adaptive immune response and trong>introng>nate immune response. Predicted to be located trong>introng> plasma membrane. Predicted to be part of T cell trong>receptortrong> complex. Predicted to be active trong>introng> external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> gamma variable B (pseudogene)
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T cell trong>receptortrong> gamma variable A (pseudogene)
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T cell trong>receptortrong> associated transmembrane adaptor 1
Predicted to enable transmembrane trong>receptortrong> protetrong>introng> tyrostrong>introng>e ktrong>introng>ase adaptor activity. Acts upstream of or withtrong>introng> negative regulation of trong>receptortrong> recycltrong>introng>g; negative regulation of transport; and positive regulation of signal transduction. Located trong>introng> centriolar satellite; mitotic sptrong>introng>dle; and plasma membrane. Part of T cell trong>receptortrong> complex. [provided by Alliance of Genome Resources, Mar 2025]
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killer cell immunoglobultrong>introng>-like trong>receptortrong>, two domatrong>introng>s, long cytoplasmic tail, 5B
Killer cell immunoglobultrong>introng>-like trong>receptortrong>s (KIRs) are transmembrane glycoprotetrong>introng>s expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found trong>introng> a cluster on chromosome 19q13.4 withtrong>introng> the 1 Mb leukocyte trong>receptortrong> complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found trong>introng> all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR protetrong>introng>s are classified by the number of extracellular immunoglobultrong>introng> domatrong>introng>s (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domatrong>introng>. KIR protetrong>introng>s with the long cytoplasmic domatrong>introng> transduce trong>introng>hibitory signals upon ligand btrong>introng>dtrong>introng>g via an immune tyrostrong>introng>e-based trong>introng>hibitory motif (ITIM), while KIR protetrong>introng>s with the short cytoplasmic domatrong>introng> lack the ITIM motif and trong>introng>stead associate with the TYRO protetrong>introng> tyrostrong>introng>e ktrong>introng>ase btrong>introng>dtrong>introng>g protetrong>introng> to transduce activattrong>introng>g signals. The ligands for several KIR protetrong>introng>s are subsets of HLA class I molecules; thus, KIR protetrong>introng>s are thought to play an important role trong>introng> regulation of the immune response. [provided by RefSeq, Jul 2008]
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killer cell immunoglobultrong>introng>-like trong>receptortrong>, two domatrong>introng>s, long cytoplasmic tail, 5A
Killer cell immunoglobultrong>introng>-like trong>receptortrong>s (KIRs) are transmembrane glycoprotetrong>introng>s expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found trong>introng> a cluster on chromosome 19q13.4 withtrong>introng> the 1 Mb leukocyte trong>receptortrong> complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found trong>introng> all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR protetrong>introng>s are classified by the number of extracellular immunoglobultrong>introng> domatrong>introng>s (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domatrong>introng>. KIR protetrong>introng>s with the long cytoplasmic domatrong>introng> transduce trong>introng>hibitory signals upon ligand btrong>introng>dtrong>introng>g via an immune tyrostrong>introng>e-based trong>introng>hibitory motif (ITIM), while KIR protetrong>introng>s with the short cytoplasmic domatrong>introng> lack the ITIM motif and trong>introng>stead associate with the TYRO protetrong>introng> tyrostrong>introng>e ktrong>introng>ase btrong>introng>dtrong>introng>g protetrong>introng> to transduce activattrong>introng>g signals. The ligands for several KIR protetrong>introng>s are subsets of HLA class I molecules; thus, KIR protetrong>introng>s are thought to play an important role trong>introng> regulation of the immune response. [provided by RefSeq, Jul 2008]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 58 (non-functional)
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 56
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 57
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 54
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 26-1
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 26-2
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 9-1
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 9-2
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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killer cell immunoglobultrong>introng>-like trong>receptortrong> 2DS1
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 61 (non-functional)
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 60 (pseudogene)
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 18
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 19
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 10
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 11 (pseudogene)
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 16
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 17
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 15 (pseudogene)
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 8-1
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 8-3
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 8-2
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 8-5 (pseudogene)
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 8-4
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 8-7 (non-functional)
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 8-6
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha constant
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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killer cell lecttrong>introng>-like trong>receptortrong> subfamily D, member 1
Natural killer (NK) cells are a disttrong>introng>ct ltrong>introng>eage of lymphocytes that mediate cytotoxic activity and secrete cytoktrong>introng>es upon immune stimulation. Several genes of the C-type lecttrong>introng> superfamily, trong>introng>cludtrong>introng>g members of the NKG2 family, are expressed by NK cells and may be trong>introng>volved trong>introng> the regulation of NK cell function. KLRD1 (CD94) is an antigen preferentially expressed on NK cells and is classified as a type II membrane protetrong>introng> because it has an external C termtrong>introng>us. Several transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, May 2017]
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mast cell immunoglobultrong>introng>-like trong>receptortrong> 1
Predicted to enable transmembrane signaltrong>introng>g trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway; mast cell degranulation; and negative regulation of mast cell activation. Predicted to be located trong>introng> plasma membrane. Predicted to be active trong>introng> external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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killer cell lecttrong>introng>-like trong>receptortrong> subfamily K, member 1
Natural killer (NK) cells are lymphocytes that can mediate lysis of certatrong>introng> tumor cells and virus-trong>introng>fected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lecttrong>introng>s, which have been implicated trong>introng> the regulation of NK cell function. The NKG2 gene family is located withtrong>introng> the NK complex, a region that contatrong>introng>s several C-type lecttrong>introng> genes preferentially expressed trong>introng> NK cells. This gene encodes a member of the NKG2 family. The encoded transmembrane protetrong>introng> is characterized by a type II membrane orientation (has an extracellular C termtrong>introng>us) and the presence of a C-type lecttrong>introng> domatrong>introng>. It btrong>introng>ds to a diverse family of ligands that trong>introng>clude MHC class I trong>chatrong>introng>trong>-related A and B protetrong>introng>s and UL-16 btrong>introng>dtrong>introng>g protetrong>introng>s, where ligand-trong>receptortrong> trong>introng>teractions can result trong>introng> the activation of NK and T cells. The surface expression of these ligands is important for the recognition of stressed cells by the immune system, and thus this protetrong>introng> and its ligands are therapeutic targets for the treatment of immune diseases and cancers. Read-through transcription exists between this gene and the upstream KLRC4 (killer cell lecttrong>introng>-like trong>receptortrong> subfamily C, member 4) family member trong>introng> the same cluster. [provided by RefSeq, Dec 2010]
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T cell trong>receptortrong> alpha locus
Enables signaltrong>introng>g trong>receptortrong> activity. Contributes to peptide antigen btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> T cell activation trong>introng>volved trong>introng> immune response; T cell mediated cytotoxicity directed agatrong>introng>st tumor cell target; and detection of tumor cell. Located trong>introng> cell surface. Part of alpha-trong>betatrong> T cell trong>receptortrong> complex. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> delta locus
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T cell trong>receptortrong> gamma locus
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> gamma locus. The gamma locus trong>introng>cludes V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments. Durtrong>introng>g T cell development, the gamma trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a V segment with a J segment; the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random addition of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Several V segments of the gamma locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. Somatic rearrangement of the gamma locus has been observed trong>introng> T cells derived from patients with T cell leukemia and ataxia telangiectasia. [provided by RefSeq, Jul 2008]
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T cell trong>receptortrong> delta jotrong>introng>trong>introng>g 4
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> delta jotrong>introng>trong>introng>g 1
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> delta jotrong>introng>trong>introng>g 3
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> delta jotrong>introng>trong>introng>g 2
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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killer cell lecttrong>introng>-like trong>receptortrong> subfamily C, member 1
Natural killer (NK) cells are lymphocytes that can mediate lysis of certatrong>introng> tumor cells and virus-trong>introng>fected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. The protetrong>introng> encoded by this gene belongs to the killer cell lecttrong>introng>-like trong>receptortrong> family, also called NKG2 family, which is a group of transmembrane protetrong>introng>s preferentially expressed trong>introng> NK cells. This family of protetrong>introng>s is characterized by the type II membrane orientation and the presence of a C-type lecttrong>introng> domatrong>introng>. This protetrong>introng> forms a complex with another family member, KLRD1/CD94, and has been implicated trong>introng> the recognition of the MHC class I HLA-E molecules trong>introng> NK cells. The genes of NKG2 family members form a killer cell lecttrong>introng>-like trong>receptortrong> gene cluster on chromosome 12. Multiple alternatively spliced transcript variants encodtrong>introng>g disttrong>introng>ct isoforms have been observed. [provided by RefSeq, Jan 2015]
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killer cell lecttrong>introng>-like trong>receptortrong> subfamily C, member 3
Natural killer (NK) cells are lymphocytes that can mediate lysis of certatrong>introng> tumor cells and virus-trong>introng>fected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lecttrong>introng>s, which have been implicated trong>introng> the regulation of NK cell function. KLRC3 is a member of the NKG2 group which are expressed primarily trong>introng> natural killer (NK) cells and encodes a family of transmembrane protetrong>introng>s characterized by a type II membrane orientation (extracellular C termtrong>introng>us) and the presence of a C-type lecttrong>introng> domatrong>introng>. The NKG2 gene family is located withtrong>introng> the NK complex, a region that contatrong>introng>s several C-type lecttrong>introng> genes preferentially expressed on NK cells. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g different isoforms. [provided by RefSeq, Jul 2008]
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killer cell lecttrong>introng>-like trong>receptortrong> subfamily C, member 2
Natural killer (NK) cells are lymphocytes that can mediate lysis of certatrong>introng> tumor cells and virus-trong>introng>fected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lecttrong>introng>s, which have been implicated trong>introng> the regulation of NK cell function. The group, designated KLRC (NKG2) are expressed primarily trong>introng> natural killer (NK) cells and encodes a family of transmembrane protetrong>introng>s characterized by a type II membrane orientation (extracellular C termtrong>introng>us) and the presence of a C-type lecttrong>introng> domatrong>introng>. The KLRC (NKG2) gene family is located withtrong>introng> the NK complex, a region that contatrong>introng>s several C-type lecttrong>introng> genes preferentially expressed on NK cells. KLRC2 alternative splice variants have been described but their full-length nature has not been determtrong>introng>ed. [provided by RefSeq, Jul 2008]
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killer cell lecttrong>introng>-like trong>receptortrong> subfamily C, member 4
Natural killer (NK) cells are lymphocytes that can mediate lysis of certatrong>introng> tumor cells and virus-trong>introng>fected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lecttrong>introng>s, which have been implicated trong>introng> the regulation of NK cell function. This gene is a member of the NKG2 group of genes that are expressed primarily trong>introng> natural killer (NK) cells. These family members encode transmembrane protetrong>introng>s that are characterized by a type II membrane orientation (have an extracellular C-termtrong>introng>us) and the presence of a C-type lecttrong>introng> domatrong>introng>. This family member is located withtrong>introng> the NK complex, a region that contatrong>introng>s several C-type lecttrong>introng> genes preferentially expressed trong>introng> NK cells. Read-through transcription exists between this gene and the downstream KLRK1 (killer cell lecttrong>introng>-like trong>receptortrong> subfamily K, member 1) family member. [provided by RefSeq, Dec 2010]
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taste trong>receptortrong> cell protetrong>introng> 1-like
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 59 (non-functional)
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 52
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 53
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 50
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 51 (pseudogene)
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 55 (pseudogene)
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 41
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 40
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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B-cell trong>receptortrong>-associated protetrong>introng> 29
trong>Introng>volved trong>introng> osteoblast differentiation. Located trong>introng> membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> alpha variable 1-1
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 1-2
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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killer cell immunoglobultrong>introng>-like trong>receptortrong> 2DS3
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T cell trong>receptortrong> alpha variable 38-1
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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killer cell lecttrong>introng>-like trong>receptortrong> subfamily F, member 2
Enables protetrong>introng> homodimerization activity. Predicted to be trong>introng>volved trong>introng> natural killer cell degranulation and positive regulation of cytoktrong>introng>e production. Predicted to act upstream of or withtrong>introng> natural killer cell activation and positive regulation of natural killer cell mediated cytotoxicity. Located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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killer cell lecttrong>introng>-like trong>receptortrong> subfamily F, member 1
KLRF1, an activattrong>introng>g homodimeric C-type lecttrong>introng>-like trong>receptortrong> (CTLR), is expressed on nearly all natural killer (NK) cells and stimulates their cytoxicity and cytoktrong>introng>e release (Kuttruff et al., 2009 [PubMed 18922855]).[supplied by OMIM, Oct 2009]
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Fas cell surface death trong>receptortrong>
The protetrong>introng> encoded by this gene is a member of the TNF-trong>receptortrong> superfamily. This trong>receptortrong> contatrong>introng>s a death domatrong>introng>. It has been shown to play a central role trong>introng> the physiological regulation of programmed cell death, and has been implicated trong>introng> the pathogenesis of various malignancies and diseases of the immune system. The trong>introng>teraction of this trong>receptortrong> with its ligand allows the formation of a death-trong>introng>ductrong>introng>g signaltrong>introng>g complex that trong>introng>cludes Fas-associated death domatrong>introng> protetrong>introng> (FADD), caspase 8, and caspase 10. The autoproteolytic processtrong>introng>g of the caspases trong>introng> the complex triggers a downstream caspase cascade, and leads to apoptosis. This trong>receptortrong> has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be trong>introng>volved trong>introng> transductrong>introng>g the proliferattrong>introng>g signals trong>introng> normal diploid fibroblast and T cells. Several alternatively spliced transcript variants have been described, some of which are candidates for nonsense-mediated mRNA decay (NMD). The isoforms lacktrong>introng>g the transmembrane domatrong>introng> may negatively regulate the apoptosis mediated by the full length isoform. [provided by RefSeq, Mar 2011]
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killer cell immunoglobultrong>introng>-like trong>receptortrong>, three domatrong>introng>s, pseudogene 1
Killer cell immunoglobultrong>introng>-like trong>receptortrong>s (KIRs) are transmembrane glycoprotetrong>introng>s expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found trong>introng> a cluster on chromosome 19q13.4 withtrong>introng> the 1 Mb leukocyte trong>receptortrong> complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found trong>introng> all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR protetrong>introng>s are classified by the number of extracellular immunoglobultrong>introng> domatrong>introng>s (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domatrong>introng>. KIR protetrong>introng>s with the long cytoplasmic domatrong>introng> transduce trong>introng>hibitory signals upon ligand btrong>introng>dtrong>introng>g via an immune tyrostrong>introng>e-based trong>introng>hibitory motif (ITIM), while KIR protetrong>introng>s with the short cytoplasmic domatrong>introng> lack the ITIM motif and trong>introng>stead associate with the TYRO protetrong>introng> tyrostrong>introng>e ktrong>introng>ase btrong>introng>dtrong>introng>g protetrong>introng> to transduce activattrong>introng>g signals. The ligands for several KIR protetrong>introng>s are subsets of HLA class I molecules; thus, KIR protetrong>introng>s are thought to play an important role trong>introng> regulation of the immune response. This gene is one of the `framework` loci that is present on all haplotypes. This gene is considered to be a pseudogene based on the absence of transcription and it lacks several functional domatrong>introng>s compared to other killer cell immunoglobultrong>introng>-like trong>receptortrong>s. A rare haplotype, the result of a recombtrong>introng>antion event, has two copies of this gene, one of which may encode a secreted protetrong>introng>. (PMID: 15580659)[provided by RefSeq, Mar 2011]
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T cell-trong>introng>teracttrong>introng>g, activattrong>introng>g trong>receptortrong> on myeloid cells 1
Enables immunoglobultrong>introng> trong>receptortrong> btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> negative regulation of CD4-positive, alpha-trong>betatrong> T cell activation. Located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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B-cell trong>receptortrong>-associated protetrong>introng> 31 pseudogene 2
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T cell trong>receptortrong> alpha variable 34
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 35
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 37 (pseudogene)
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 30
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 32 (pseudogene)
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 33 (pseudogene)
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 39
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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killer cell immunoglobultrong>introng>-like trong>receptortrong>, two domatrong>introng>s, pseudogene 1
Predicted to be trong>introng>volved trong>introng> immune response-regulattrong>introng>g signaltrong>introng>g pathway. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> gamma variable 11 (non-functional)
Predicted to be trong>introng>volved trong>introng> adaptive immune response. Predicted to be located trong>introng> external side of plasma membrane. Predicted to be part of T cell trong>receptortrong> complex. [provided by Alliance of Genome Resources, Mar 2025]
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T cell trong>receptortrong> alpha variable 12-1
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 12-3
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 12-2
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 13-1
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha variable 13-2
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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killer cell immunoglobultrong>introng>-like trong>receptortrong>, two domatrong>introng>s, long cytoplasmic tail, 3
Killer cell immunoglobultrong>introng>-like trong>receptortrong>s (KIRs) are transmembrane glycoprotetrong>introng>s expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found trong>introng> a cluster on chromosome 19q13.4 withtrong>introng> the 1 Mb leukocyte trong>receptortrong> complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found trong>introng> all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR protetrong>introng>s are classified by the number of extracellular immunoglobultrong>introng> domatrong>introng>s (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domatrong>introng>. KIR protetrong>introng>s with the long cytoplasmic domatrong>introng> transduce trong>introng>hibitory signals upon ligand btrong>introng>dtrong>introng>g via an immune tyrostrong>introng>e-based trong>introng>hibitory motif (ITIM), while KIR protetrong>introng>s with the short cytoplasmic domatrong>introng> lack the ITIM motif and trong>introng>stead associate with the TYRO protetrong>introng> tyrostrong>introng>e ktrong>introng>ase btrong>introng>dtrong>introng>g protetrong>introng> to transduce activattrong>introng>g signals. The ligands for several KIR protetrong>introng>s are subsets of HLA class I molecules; thus, KIR protetrong>introng>s are thought to play an important role trong>introng> regulation of the immune response. [provided by RefSeq, Jul 2008]
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killer cell immunoglobultrong>introng>-like trong>receptortrong>, two domatrong>introng>s, long cytoplasmic tail, 2
Killer cell immunoglobultrong>introng>-like trong>receptortrong>s (KIRs) are transmembrane glycoprotetrong>introng>s expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found trong>introng> a cluster on chromosome 19q13.4 withtrong>introng> the 1 Mb leukocyte trong>receptortrong> complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found trong>introng> all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR protetrong>introng>s are classified by the number of extracellular immunoglobultrong>introng> domatrong>introng>s (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domatrong>introng>. KIR protetrong>introng>s with the long cytoplasmic domatrong>introng> transduce trong>introng>hibitory signals upon ligand btrong>introng>dtrong>introng>g via an immune tyrostrong>introng>e-based trong>introng>hibitory motif (ITIM), while KIR protetrong>introng>s with the short cytoplasmic domatrong>introng> lack the ITIM motif and trong>introng>stead associate with the TYRO protetrong>introng> tyrostrong>introng>e ktrong>introng>ase btrong>introng>dtrong>introng>g protetrong>introng> to transduce activattrong>introng>g signals. The ligands for several KIR protetrong>introng>s are subsets of HLA class I molecules; thus, KIR protetrong>introng>s are thought to play an important role trong>introng> regulation of the immune response. [provided by RefSeq, Jul 2008]
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killer cell immunoglobultrong>introng>-like trong>receptortrong>, two domatrong>introng>s, long cytoplasmic tail, 1
Killer cell immunoglobultrong>introng>-like trong>receptortrong>s (KIRs) are transmembrane glycoprotetrong>introng>s expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found trong>introng> a cluster on chromosome 19q13.4 withtrong>introng> the 1 Mb leukocyte trong>receptortrong> complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found trong>introng> all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR protetrong>introng>s are classified by the number of extracellular immunoglobultrong>introng> domatrong>introng>s (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domatrong>introng>. KIR protetrong>introng>s with the long cytoplasmic domatrong>introng> transduce trong>introng>hibitory signals upon ligand btrong>introng>dtrong>introng>g via an immune tyrostrong>introng>e-based trong>introng>hibitory motif (ITIM), while KIR protetrong>introng>s with the short cytoplasmic domatrong>introng> lack the ITIM motif and trong>introng>stead associate with the TYRO protetrong>introng> tyrostrong>introng>e ktrong>introng>ase btrong>introng>dtrong>introng>g protetrong>introng> to transduce activattrong>introng>g signals. The ligands for several KIR protetrong>introng>s are subsets of HLA class I molecules; thus, KIR protetrong>introng>s are thought to play an important role trong>introng> regulation of the immune response. [provided by RefSeq, Jul 2008]
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killer cell immunoglobultrong>introng>-like trong>receptortrong>, two domatrong>introng>s, long cytoplasmic tail, 4
Killer cell immunoglobultrong>introng>-like trong>receptortrong>s (KIRs) are transmembrane glycoprotetrong>introng>s expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found trong>introng> a cluster on chromosome 19q13.4 withtrong>introng> the 1 Mb leukocyte trong>receptortrong> complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found trong>introng> all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR protetrong>introng>s are classified by the number of extracellular immunoglobultrong>introng> domatrong>introng>s (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domatrong>introng>. KIR protetrong>introng>s with the long cytoplasmic domatrong>introng> transduce trong>introng>hibitory signals upon ligand btrong>introng>dtrong>introng>g via an immune tyrostrong>introng>e-based trong>introng>hibitory motif (ITIM), while KIR protetrong>introng>s with the short cytoplasmic domatrong>introng> lack the ITIM motif and trong>introng>stead associate with the TYRO protetrong>introng> tyrostrong>introng>e ktrong>introng>ase btrong>introng>dtrong>introng>g protetrong>introng> to transduce activattrong>introng>g signals. The ligands for several KIR protetrong>introng>s are subsets of HLA class I molecules; thus, KIR protetrong>introng>s are thought to play an important role trong>introng> regulation of the immune response. This gene is one of the `framework` loci that is present on all haplotypes. Alternate alleles of this gene are represented on multiple alternate reference loci (ALT_REF_LOCs). Alternative splictrong>introng>g results trong>introng> multiple transcript variants, some of which may not be annotated on the primary reference assembly. [provided by RefSeq, Jul 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 4
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 5
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 6
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 7
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 1 (non-functional)
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 2 (non-functional)
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 3
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 8
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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T cell trong>receptortrong> alpha jotrong>introng>trong>introng>g 9
T cell trong>receptortrong>s recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenttrong>introng>g cells (APC). Each T cell trong>receptortrong> is a dimer consisttrong>introng>g of one alpha and one trong>betatrong> trong>chatrong>introng>trong> or one delta and one gamma trong>chatrong>introng>trong>. trong>Introng> a strong>introng>gle cell, the T cell trong>receptortrong> loci are rearranged and expressed trong>introng> the order delta, gamma, trong>betatrong>, and alpha. If both delta and gamma rearrangements produce functional trong>chatrong>introng>trong>s, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the trong>betatrong> and alpha loci. This region represents the germltrong>introng>e organization of the T cell trong>receptortrong> alpha and delta loci. Both the alpha and delta loci trong>introng>clude V (variable), J (jotrong>introng>trong>introng>g), and C (constant) segments and the delta locus also trong>introng>cludes diversity (D) segments. The delta locus is situated withtrong>introng> the alpha locus, between the alpha V and J segments. Durtrong>introng>g T cell development, the delta trong>chatrong>introng>trong> is synthesized by a recombtrong>introng>ation event at the DNA level jotrong>introng>trong>introng>g a D segment with a J segment; a V segment is then jotrong>introng>ed to the D-J gene. The alpha trong>chatrong>introng>trong> is synthesized by recombtrong>introng>ation jotrong>introng>trong>introng>g a strong>introng>gle V segment with a J segment. For both trong>chatrong>introng>trong>s, the C segment is later jotrong>introng>ed by splictrong>introng>g at the RNA level. Recombtrong>introng>ation of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attatrong>introng>ed by junctional diversity, resulttrong>introng>g from the random additional of nucleotides by termtrong>introng>al deoxynucleotidyltransferase. Five variable segments can be used trong>introng> either alpha or delta trong>chatrong>introng>trong>s and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be trong>introng>capable of encodtrong>introng>g a protetrong>introng> and are considered pseudogenes. [provided by RefSeq, Aug 2016]
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killer cell lecttrong>introng> like trong>receptortrong> A1, pseudogene
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killer cell immunoglobultrong>introng>-like trong>receptortrong> 2DL4-like
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collagen alpha-1(III) trong>chatrong>introng>trong>-like
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collagen alpha-2(I) trong>chatrong>introng>trong>-like
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short trong>chatrong>introng>trong> dehydrogenase/reductase family 42E, member 1
Predicted to enable oxidoreductase activity, acttrong>introng>g on the CH-OH group of donors, NAD or NADP as acceptor. Predicted to be trong>introng>volved trong>introng> steroid biosynthetic process. Predicted to be located trong>introng> membrane. [provided by Alliance of Genome Resources, Mar 2025]
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acyl-CoA synthetase short-trong>chatrong>introng>trong> family member 3
Enables propionate-CoA ligase activity. Predicted to be trong>introng>volved trong>introng> ketone body biosynthetic process. Located trong>introng> mitochondrial matrix. [provided by Alliance of Genome Resources, Mar 2025]
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acyl-CoA synthetase short-trong>chatrong>introng>trong> family member 2
This gene encodes a cytosolic enzyme that catalyzes the activation of acetate for use trong>introng> lipid synthesis and energy generation. The protetrong>introng> acts as a monomer and produces acetyl-CoA from acetate trong>introng> a reaction that requires ATP. Expression of this gene is regulated by sterol regulatory element-btrong>introng>dtrong>introng>g protetrong>introng>s, transcription factors that activate genes required for the synthesis of cholesterol and unsaturated fatty acids. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jul 2009]
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acyl-CoA synthetase short-trong>chatrong>introng>trong> family member 1
This gene encodes a mitochondrial acetyl-CoA synthetase enzyme. A similar protetrong>introng> trong>introng> mice plays an important role trong>introng> the tricarboxylic acid cycle by catalyztrong>introng>g the conversion of acetate to acetyl CoA. Alternatively spliced transcript variants encodtrong>introng>g multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
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dynetrong>introng>, cytoplasmic 1, trong>introng>termediate trong>chatrong>introng>trong> 1
Enables spectrtrong>introng> btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> vesicle transport along microtubule. Located trong>introng> several cellular components, trong>introng>cludtrong>introng>g ktrong>introng>etochore; recycltrong>introng>g endosome; and sptrong>introng>dle pole. [provided by Alliance of Genome Resources, Mar 2025]
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dynetrong>introng>, cytoplasmic 1, trong>introng>termediate trong>chatrong>introng>trong> 2
This gene encodes a member of the dynetrong>introng> trong>introng>termediate trong>chatrong>introng>trong> family. The encoded protetrong>introng> is a non-catalytic component of the cytoplasmic dynetrong>introng> 1 complex, which acts as a retrograde microtubule motor to transport organelles and vesicles. A pseudogene of this gene is located on chromosome 10. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Nov 2012]
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Ig kappa trong>chatrong>introng>trong> V-I region Walker-like
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solute carrier family 7 (amtrong>introng>o acid transporter light trong>chatrong>introng>trong>, y+L system), member 6
Enables L-lystrong>introng>e:L-argtrong>introng>trong>introng>e antiporter activity and argtrong>introng>trong>introng>e btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> L-argtrong>introng>trong>introng>e transmembrane transport; L-leuctrong>introng>e transport; and ornithtrong>introng>e transport. Predicted to be located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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myostrong>introng>, light trong>chatrong>introng>trong> 8, pseudogene
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Corticosterone side-trong>chatrong>introng>trong> isomerase
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Ig heavy trong>chatrong>introng>trong> V-III region VH26-like
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collagen alpha-1(I) trong>chatrong>introng>trong>-like
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myostrong>introng> light trong>chatrong>introng>trong> ktrong>introng>ase family, member 4
Predicted to enable myostrong>introng> light trong>chatrong>introng>trong> ktrong>introng>ase activity. Predicted to be trong>introng>volved trong>introng> signal transduction. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]
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myostrong>introng> light trong>chatrong>introng>trong> ktrong>introng>ase 2
This gene encodes a myostrong>introng> light trong>chatrong>introng>trong> ktrong>introng>ase, a calcium/calmodultrong>introng> dependent enzyme, that is exclusively expressed trong>introng> adult skeletal muscle. [provided by RefSeq, Jul 2008]
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myostrong>introng> light trong>chatrong>introng>trong> ktrong>introng>ase 3
Phosphorylation of cardiac myostrong>introng> heavy trong>chatrong>introng>trong>s (see MYH7B, MIM 609928) and light trong>chatrong>introng>trong>s (see MYL2, MIM 160781) by a ktrong>introng>ase, such as MYLK3, potentiates the force and rate of cross-bridge recruitment trong>introng> cardiac myocytes (Chan et al., 2008 [PubMed 18202317]).[supplied by OMIM, Jul 2008]
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collagen alpha-2(I) trong>chatrong>introng>trong>-like
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short trong>chatrong>introng>trong> dehydrogenase/reductase family 42E, member 2
Predicted to enable oxidoreductase activity, acttrong>introng>g on the CH-OH group of donors, NAD or NADP as acceptor. Predicted to be trong>introng>volved trong>introng> steroid biosynthetic process. [provided by Alliance of Genome Resources, Mar 2025]
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collagen alpha-1(I) trong>chatrong>introng>trong>-like
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strong>introng>gle-trong>chatrong>introng>trong> Fv fragment
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Ig lambda trong>chatrong>introng>trong> V region 4A-like
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ktrong>introng>estrong>introng> light trong>chatrong>introng>trong> 1
Conventional ktrong>introng>estrong>introng> is a tetrameric molecule composed of two heavy trong>chatrong>introng>trong>s and two light trong>chatrong>introng>trong>s, and transports various cargos along microtubules toward their plus ends. The heavy trong>chatrong>introng>trong>s provide the motor activity, while the light trong>chatrong>introng>trong>s btrong>introng>d to various cargos. This gene encodes a member of the ktrong>introng>estrong>introng> light trong>chatrong>introng>trong> family. It associates with ktrong>introng>estrong>introng> heavy trong>chatrong>introng>trong> through an N-termtrong>introng>al domatrong>introng>, and six tetratricopeptide repeat (TPR) motifs are thought to be trong>introng>volved trong>introng> btrong>introng>dtrong>introng>g of cargos such as vesicles, mitochondria, and the Golgi complex. Thus, ktrong>introng>estrong>introng> light trong>chatrong>introng>trong>s function as adapter molecules and not motors per se. Although previously named `ktrong>introng>estrong>introng> 2`, this gene is not a member of the ktrong>introng>estrong>introng>-2 / ktrong>introng>estrong>introng> heavy trong>chatrong>introng>trong> subfamily of ktrong>introng>estrong>introng> motor protetrong>introng>s. Extensive alternative splictrong>introng>g produces isoforms with different C-termtrong>introng>i that are proposed to btrong>introng>d to different cargos; however, the full-length nature and/or biological validity of most of these variants have not been determtrong>introng>ed. [provided by RefSeq, Jul 2008]
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ktrong>introng>estrong>introng> light trong>chatrong>introng>trong> 2
The protetrong>introng> encoded by this gene is a light trong>chatrong>introng>trong> of ktrong>introng>estrong>introng>, a molecular motor responsible for movtrong>introng>g vesicles and organelles along microtubules. Defects trong>introng> this gene are a cause of spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome. [provided by RefSeq, Mar 2016]
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ktrong>introng>estrong>introng> light trong>chatrong>introng>trong> 3
This gene encodes a member of the ktrong>introng>estrong>introng> light trong>chatrong>introng>trong> gene family. Ktrong>introng>estrong>introng>s are molecular motors trong>introng>volved trong>introng> the transport of cargo along microtubules, and are composed of two ktrong>introng>estrong>introng> heavy trong>chatrong>introng>trong> (KHC) and two ktrong>introng>estrong>introng> light trong>chatrong>introng>trong> (KLC) molecules. KLCs are thought to typically be trong>introng>volved trong>introng> btrong>introng>dtrong>introng>g cargo and regulattrong>introng>g ktrong>introng>estrong>introng> activity. trong>Introng> the rat, a protetrong>introng> similar to this gene product is expressed trong>introng> post-meiotic spermatids, where it associates with structural components of sperm tails and mitochondria. [provided by RefSeq, Jul 2008]
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ktrong>introng>estrong>introng> light trong>chatrong>introng>trong> 4
Predicted to enable ktrong>introng>estrong>introng> btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> microtubule-based movement. Predicted to be located trong>introng> microtubule. Predicted to be part of ktrong>introng>estrong>introng> complex. Predicted to be active trong>introng> cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]
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dynetrong>introng>, light trong>chatrong>introng>trong>, Tctex-type 1
This gene encodes a component of the motor complex, cytoplasmic dynetrong>introng>, which transports cellular cargo along microtubules trong>introng> the cell. The encoded protetrong>introng> regulates the length of primary cilia which are sensory organelles found on the surface of cells. The protetrong>introng> encoded by this gene trong>introng>teracts with viral protetrong>introng>s, like the mtrong>introng>or capsid protetrong>introng> L2 of human papillomavirus, and is required for dynetrong>introng>-mediated delivery of the viral nucleic acid to the host nucleus. This protetrong>introng> trong>introng>teracts with oncogenic nucleoportrong>introng>s to disrupt gene regulation and cause leukemic transformation. Pseudogenes of this gene are present on chromosomes 4 and 17. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g different isoforms. [provided by RefSeq, Apr 2014]
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dynetrong>introng>, light trong>chatrong>introng>trong>, Tctex-type 3
This gene encodes a member of a subclass of dynetrong>introng> light trong>chatrong>introng>trong>s. The encoded protetrong>introng> homodimerizes and forms the light trong>chatrong>introng>trong> component of the cytoplasmic dynetrong>introng> motor protetrong>introng> complex. This protetrong>introng> may be important for btrong>introng>dtrong>introng>g dynetrong>introng> to specific cargos trong>introng>cludtrong>introng>g the sptrong>introng>dle checkpotrong>introng>t protetrong>introng> BUB3. This protetrong>introng> may also function trong>introng>dependently of dynetrong>introng> as a transcriptional modulator. Pseudogenes of this gene are found on chromosomes 2 and 20.[provided by RefSeq, Mar 2010]
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gamma-glutamyltransferase light trong>chatrong>introng>trong> 5 pseudogene
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sertrong>introng>e palmitoyltransferase, long trong>chatrong>introng>trong> base subunit 1 pseudogene 1
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sertrong>introng>e palmitoyltransferase, long trong>chatrong>introng>trong> base subunit 1 pseudogene 2
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sertrong>introng>e palmitoyltransferase, long trong>chatrong>introng>trong> base subunit 1 pseudogene 5
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sertrong>introng>e palmitoyltransferase, long trong>chatrong>introng>trong> base subunit 1 pseudogene 4
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clathrtrong>introng>, light trong>chatrong>introng>trong> A pseudogene
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fibrtrong>introng>ogen gamma trong>chatrong>introng>trong>
The protetrong>introng> encoded by this gene is the gamma component of fibrtrong>introng>ogen, a blood-borne glycoprotetrong>introng> comprised of three pairs of nonidentical polypeptide trong>chatrong>introng>trong>s. Followtrong>introng>g vascular trong>introng>jury, fibrtrong>introng>ogen is cleaved by thrombtrong>introng> to form fibrtrong>introng> which is the most abundant component of blood clots. trong>Introng> addition, various cleavage products of fibrtrong>introng>ogen and fibrtrong>introng> regulate cell adhesion and spreadtrong>introng>g, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Mutations trong>introng> this gene lead to several disorders, trong>introng>cludtrong>introng>g dysfibrtrong>introng>ogenemia, hypofibrtrong>introng>ogenemia and thrombophilia. Alternative splictrong>introng>g results trong>introng> transcript variants encodtrong>introng>g different isoforms. [provided by RefSeq, Aug 2015]
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fibrtrong>introng>ogen alpha trong>chatrong>introng>trong>
This gene encodes the alpha subunit of the coagulation factor fibrtrong>introng>ogen, which is a component of the blood clot. Followtrong>introng>g vascular trong>introng>jury, the encoded preproprotetrong>introng> is proteolytically processed by thrombtrong>introng> durtrong>introng>g the conversion of fibrtrong>introng>ogen to fibrtrong>introng>. Mutations trong>introng> this gene lead to several disorders, trong>introng>cludtrong>introng>g dysfibrtrong>introng>ogenemia, hypofibrtrong>introng>ogenemia, afibrtrong>introng>ogenemia and renal amyloidosis. Alternative splictrong>introng>g results trong>introng> multiple transcript variants, at least one of which encodes an isoform that undergoes proteolytic processtrong>introng>g. [provided by RefSeq, Jan 2016]
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gamma-glutamyltransferase light trong>chatrong>introng>trong> 4 pseudogene
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collagen alpha-3(IX) trong>chatrong>introng>trong>-like
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dynetrong>introng>, light trong>chatrong>introng>trong>, LC8-type 1
Cytoplasmic dynetrong>introng>s are large enzyme complexes with a molecular mass of about 1,200 kD. They contatrong>introng> two force-productrong>introng>g heads formed primarily from dynetrong>introng> heavy trong>chatrong>introng>trong>s, and stalks ltrong>introng>ktrong>introng>g the heads to a basal domatrong>introng>, which contatrong>introng>s a varytrong>introng>g number of accessory trong>introng>termediate trong>chatrong>introng>trong>s. The complex is trong>introng>volved trong>introng> trong>introng>tracellular transport and motility. The protetrong>introng> described trong>introng> this record is a light trong>chatrong>introng>trong> and exists as part of this complex but also physically trong>introng>teracts with and trong>introng>hibits the activity of neuronal nitric oxide synthase. Btrong>introng>dtrong>introng>g of this protetrong>introng> destabilizes the neuronal nitric oxide synthase dimer, a conformation necessary for activity, and it may regulate numerous biologic processes through its effects on nitric oxide synthase activity. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
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dynetrong>introng>, light trong>chatrong>introng>trong>, LC8-type 2
Predicted to enable dynetrong>introng> trong>introng>termediate trong>chatrong>introng>trong> btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> microtubule-based process. Located trong>introng> 9+0 non-motile cilium and centrosome. Is active trong>introng> glutamatergic synapse and postsynapse. [provided by Alliance of Genome Resources, Mar 2025]
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collagen alpha-1(XXVII) trong>chatrong>introng>trong>-like
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collagen alpha-2(I) trong>chatrong>introng>trong>-like
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fibril-formtrong>introng>g collagen alpha trong>chatrong>introng>trong>-like
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alpha-crystalltrong>introng> A trong>chatrong>introng>trong>
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collagen alpha-1(XI) trong>chatrong>introng>trong>-like
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dynetrong>introng>, light trong>chatrong>introng>trong>, LC8-type 1 pseudogene 2
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dynetrong>introng>, light trong>chatrong>introng>trong>, LC8-type 1 pseudogene 3
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dynetrong>introng>, light trong>chatrong>introng>trong>, LC8-type 1 pseudogene 1
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dynetrong>introng>, light trong>chatrong>introng>trong>, LC8-type 1 pseudogene 6
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dynetrong>introng>, light trong>chatrong>introng>trong>, LC8-type 1 pseudogene 7
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dynetrong>introng>, light trong>chatrong>introng>trong>, LC8-type 1 pseudogene 4
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Ig heavy trong>chatrong>introng>trong> V-III region VH26-like
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collagen alpha-1(III) trong>chatrong>introng>trong>-like
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acyl-CoA synthetase medium-trong>chatrong>introng>trong> family member 5 pseudogene 1
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acyl-CoA dehydrogenase, short/branched trong>chatrong>introng>trong>
Short/branched trong>chatrong>introng>trong> acyl-CoA dehydrogenase(ACADSB) is a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives trong>introng> the metabolism of fatty acids or branch trong>chatrong>introng>trong>ed amtrong>introng>o acids. Substrate specificity is the primary characteristic used to deftrong>introng>e members of this gene family. The ACADSB gene product has the greatest activity towards the short branched trong>chatrong>introng>trong> acyl-CoA derivative, (S)-2-methylbutyryl-CoA, but also reacts significantly with other 2-methyl branched trong>chatrong>introng>trong> substrates and with short straight trong>chatrong>introng>trong> acyl-CoAs. The cDNA encodes for a mitochondrial precursor protetrong>introng> which is cleaved upon mitochondrial import and predicted to yield a mature peptide of approximately 43.7-KDa. [provided by RefSeq, Jul 2008]
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collagen alpha-4(IV) trong>chatrong>introng>trong>-like
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collagen alpha-2(VIII) trong>chatrong>introng>trong>-like
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collagen alpha-2(I) trong>chatrong>introng>trong>-like
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solute carrier family 7 (amtrong>introng>o acid transporter light trong>chatrong>introng>trong>, bo,+ system), member 9
This gene encodes a protetrong>introng> that belongs to a family of light subunits of amtrong>introng>o acid transporters. This protetrong>introng> plays a role trong>introng> the high-afftrong>introng>ity and sodium-trong>introng>dependent transport of cysttrong>introng>e and neutral and dibasic amtrong>introng>o acids, and appears to function trong>introng> the reabsorption of cysttrong>introng>e trong>introng> the kidney tubule. Mutations trong>introng> this gene cause non-type I cysttrong>introng>uria, a disease that leads to cysttrong>introng>e stones trong>introng> the urtrong>introng>ary system due to impaired transport of cysttrong>introng>e and dibasic amtrong>introng>o acids. Alternate transcript variants, which encode the same protetrong>introng>, have been found for this gene. [provided by RefSeq, Jul 2011]
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collagen alpha-1(X) trong>chatrong>introng>trong>
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collagen alpha-1(I) trong>chatrong>introng>trong>-like
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Ig heavy trong>chatrong>introng>trong> V-III region VH26-like
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Ig heavy trong>chatrong>introng>trong> V-III region VH26-like
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myostrong>introng>, light trong>chatrong>introng>trong> 9, regulatory pseudogene
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clathrtrong>introng>, heavy trong>chatrong>introng>trong>-like 1
This gene is a member of the clathrtrong>introng> heavy trong>chatrong>introng>trong> family and encodes a major protetrong>introng> of the polyhedral coat of coated pits and vesicles. Chromosomal aberrations trong>introng>volvtrong>introng>g this gene are associated with mentrong>introng>gioma, DiGeorge syndrome, and velo-cardio-facial syndrome. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]
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dynetrong>introng>, cytoplasmic 2, light trong>introng>termediate trong>chatrong>introng>trong> 1
This gene encodes a protetrong>introng> that is a component of the dynetrong>introng>-2 microtubule motor protetrong>introng> complex that plays a role trong>introng> the retrograde transport of cargo trong>introng> primary cilia via the trong>introng>traflagellar transport system. This gene is ubiquitously expressed and its protetrong>introng>, which localizes to the axoneme and Golgi apparatus, trong>introng>teracts directly with the cytoplasmic dynetrong>introng> 2 heavy trong>chatrong>introng>trong> 1 protetrong>introng> to form part of the multi-protetrong>introng> dynetrong>introng>-2 complex. Mutations trong>introng> this gene produce defects trong>introng> the dynetrong>introng>-2 complex which result trong>introng> several types of ciliopathy trong>introng>cludtrong>introng>g short-rib thoracic dysplasia 15 with polydactyly (SRTD15). Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g disttrong>introng>ct isoforms. [provided by RefSeq, Feb 2017]
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myostrong>introng>, light trong>chatrong>introng>trong> 6B pseudogene 1
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dynetrong>introng>, axonemal, heavy trong>chatrong>introng>trong> 14
Dynetrong>introng>s are microtubule-associated motor protetrong>introng> complexes composed of several heavy, light, and trong>introng>termediate trong>chatrong>introng>trong>s. Two major classes of dynetrong>introng>s, axonemal and cytoplasmic, have been identified. DNAH14 is an axonemal dynetrong>introng> heavy trong>chatrong>introng>trong> (DHC) (Vaughan et al., 1996 [PubMed 8812413]).[supplied by OMIM, Mar 2008]
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dynetrong>introng>, axonemal, heavy trong>chatrong>introng>trong> 17
Dynetrong>introng>s are microtubule-associated motor protetrong>introng> complexes composed of several heavy, light, and trong>introng>termediate trong>chatrong>introng>trong>s. DNAH17 is a heavy trong>chatrong>introng>trong> associated with axonemal dynetrong>introng> (Milisav and Affara, 1998 [PubMed 9545504]).[supplied by OMIM, Mar 2008]
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dynetrong>introng>, axonemal, heavy trong>chatrong>introng>trong> 10
Dynetrong>introng>s are microtubule-associated motor protetrong>introng> complexes composed of several heavy, light, and trong>introng>termediate trong>chatrong>introng>trong>s. The axonemal dynetrong>introng>s, found trong>introng> cilia and flagella, are components of the outer and trong>introng>ner dynetrong>introng> arms attached to the peripheral microtubule doublets. DNAH10 is an trong>introng>ner arm dynetrong>introng> heavy trong>chatrong>introng>trong> (Maiti et al., 2000 [PubMed 11175280]).[supplied by OMIM, Mar 2008]
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dynetrong>introng>, axonemal, heavy trong>chatrong>introng>trong> 12
Predicted to enable several functions, trong>introng>cludtrong>introng>g ATP btrong>introng>dtrong>introng>g activity; ATP hydrolysis activity; and dynetrong>introng> trong>introng>termediate trong>chatrong>introng>trong> btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> microtubule-based movement. Predicted to be located trong>introng> axoneme and microtubule. Predicted to be part of axonemal dynetrong>introng> complex. [provided by Alliance of Genome Resources, Mar 2025]
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tropomyostrong>introng> alpha-3 trong>chatrong>introng>trong>-like
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dynetrong>introng>, cytoplasmic 1, light trong>introng>termediate trong>chatrong>introng>trong> 1
The protetrong>introng> encoded by this gene belongs to light trong>introng>termediate subunit family, whose members are components of the multiprotetrong>introng> cytoplasmic dynetrong>introng> complex, which is trong>introng>volved trong>introng> trong>introng>tracellular trafficktrong>introng>g and chromosome segregation durtrong>introng>g mitosis. The protetrong>introng> plays a role trong>introng> movtrong>introng>g the sptrong>introng>dle assembly checkpotrong>introng>t (SAC) from ktrong>introng>etochores to sptrong>introng>dle poles. The protetrong>introng> may also mediate btrong>introng>dtrong>introng>g to other cargo molecules to facilitate trong>introng>tracellular vesicle trafficktrong>introng>g. [provided by RefSeq, Jul 2016]
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dynetrong>introng>, cytoplasmic 1, light trong>introng>termediate trong>chatrong>introng>trong> 2
Cytoplasmic dynetrong>introng> is a microtubule-associated motor protetrong>introng> (Hughes et al., 1995 [PubMed 7738094]). See DYNC1H1 (MIM 600112) for general trong>introng>formation about dynetrong>introng>s.[supplied by OMIM, Mar 2008]
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acyl-CoA oxidase 2, branched trong>chatrong>introng>trong>
The product of this gene belongs to the acyl-CoA oxidase family. It encodes the branched-trong>chatrong>introng>trong> acyl-CoA oxidase which is trong>introng>volved trong>introng> the degradation of long branched fatty acids and bile acid trong>introng>termediates trong>introng> peroxisomes. Deficiency of this enzyme results trong>introng> the accumulation of branched fatty acids and bile acid trong>introng>termediates, and may lead to Zellweger syndrome, severe cognitive disability, and death trong>introng> children. [provided by RefSeq, Mar 2009]
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myostrong>introng>, light trong>chatrong>introng>trong>, cardiac muscle-like 1
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immunglobultrong>introng> heavy trong>chatrong>introng>trong> variable region
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Ig heavy trong>chatrong>introng>trong> V region 5A-like
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acyl-CoA dehydrogenase, very long trong>chatrong>introng>trong>
The protetrong>introng> encoded by this gene is targeted to the trong>introng>ner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid trong>betatrong>-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-trong>chatrong>introng>trong> and very-long-trong>chatrong>introng>trong> fatty acids. A deficiency trong>introng> this gene product reduces myocardial fatty acid trong>betatrong>-oxidation and is associated with cardiomyopathy. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g different isoforms. [provided by RefSeq, Jul 2008]
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Ig lambda trong>chatrong>introng>trong> V-I region BL2-like
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myostrong>introng> light trong>chatrong>introng>trong> ktrong>introng>ase pseudogene 1 (functional)
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collagen alpha-2(I) trong>chatrong>introng>trong>-like
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collagen alpha-4(IV) trong>chatrong>introng>trong>-like
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dynetrong>introng>, light trong>chatrong>introng>trong>, Tctex-type 1 pseudogene
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collagen alpha-1(III) trong>chatrong>introng>trong>-like
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acyl-CoA synthetase medium-trong>chatrong>introng>trong> family member 1
Enables benzoate-CoA ligase activity; decanoate-CoA ligase activity; and long-trong>chatrong>introng>trong> fatty acid-CoA ligase activity. Predicted to be trong>introng>volved trong>introng> acyl-CoA metabolic process and fatty acid biosynthetic process. Located trong>introng> mitochondrial matrix. [provided by Alliance of Genome Resources, Mar 2025]
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acyl-CoA synthetase medium-trong>chatrong>introng>trong> family member 3
Enables medium-trong>chatrong>introng>trong> fatty acid-CoA ligase activity. Predicted to be trong>introng>volved trong>introng> acyl-CoA metabolic process and fatty acid biosynthetic process. Located trong>introng> mitochondrion. Implicated trong>introng> IgA glomerulonephritis. Biomarker of ulcerative colitis. [provided by Alliance of Genome Resources, Mar 2025]
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acyl-CoA synthetase medium-trong>chatrong>introng>trong> family member 5
Predicted to enable fatty acid ligase activity and fatty-acyl-CoA synthase activity. Predicted to be trong>introng>volved trong>introng> acyl-CoA metabolic process and fatty acid biosynthetic process. Located trong>introng> mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]
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acyl-CoA synthetase medium-trong>chatrong>introng>trong> family member 4
Predicted to enable decanoate-CoA ligase activity and fatty-acyl-CoA synthase activity. Predicted to be trong>introng>volved trong>introng> acyl-CoA metabolic process and fatty acid biosynthetic process. Located trong>introng> mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]
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acyl-CoA synthetase medium-trong>chatrong>introng>trong> family member 6
Predicted to enable fatty acid ligase activity and fatty-acyl-CoA synthase activity. Predicted to be trong>introng>volved trong>introng> acyl-CoA metabolic process and fatty acid biosynthetic process. Located trong>introng> mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]
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myostrong>introng>, light trong>chatrong>introng>trong> 12B, regulatory
The activity of nonmuscle myostrong>introng> II (see MYH9; MIM 160775) is regulated by phosphorylation of a regulatory light trong>chatrong>introng>trong>, such as MRLC2. This phosphorylation results trong>introng> higher MgATPase activity and the assembly of myostrong>introng> II filaments (Iwasaki et al., 2001 [PubMed 11942626]).[supplied by OMIM, Mar 2008]
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myostrong>introng>, light trong>chatrong>introng>trong> 12A, regulatory, non-sarcomeric
This gene encodes a nonsarcomeric myostrong>introng> regulatory light trong>chatrong>introng>trong>. This protetrong>introng> is activated by phosphorylation and regulates smooth muscle and non-muscle cell contraction. This protetrong>introng> may also be trong>introng>volved trong>introng> DNA damage repair by sequestertrong>introng>g the transcriptional regulator apoptosis-antagoniztrong>introng>g transcription factor (AATF)/Che-1 which functions as a repressor of p53-driven apoptosis. Alternate splictrong>introng>g results trong>introng> multiple transcript variants. A pseudogene of this gene is found on chromosome 8.[provided by RefSeq, Dec 2014]
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dynetrong>introng>, cytoplasmic 1, trong>introng>termediate trong>chatrong>introng>trong> 2 pseudogene 1
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myostrong>introng> regulatory light trong>chatrong>introng>trong> trong>introng>teracttrong>introng>g protetrong>introng>
The ERM protetrong>introng> family members ezrtrong>introng>, radixtrong>introng>, and moestrong>introng> are cytoskeletal effector protetrong>introng>s ltrong>introng>ktrong>introng>g acttrong>introng> to membrane-bound protetrong>introng>s at the cell surface. Myostrong>introng> regulatory light trong>chatrong>introng>trong> trong>introng>teracttrong>introng>g protetrong>introng> (MYLIP) is a novel ERM-like protetrong>introng> that trong>introng>teracts with myostrong>introng> regulatory light trong>chatrong>introng>trong> and trong>introng>hibits neurite outgrowth. [provided by RefSeq, Jul 2008]
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dynetrong>introng>, light trong>chatrong>introng>trong>, Tctex-type 3 pseudogene 1
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dynetrong>introng>, light trong>chatrong>introng>trong>, Tctex-type 3 pseudogene 2
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branched trong>chatrong>introng>trong> ketoacid dehydrogenase ktrong>introng>ase
The branched-trong>chatrong>introng>trong> alpha-ketoacid dehydrogenase complex (BCKD) is an important regulator of the valtrong>introng>e, leuctrong>introng>e, and isoleuctrong>introng>e catabolic pathways. The protetrong>introng> encoded by this gene is found trong>introng> the mitochondrion, where it phosphorylates and trong>introng>activates BCKD. Several transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
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Ig kappa trong>chatrong>introng>trong> V-I region Walker-like
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solute carrier family 7 (amtrong>introng>o acid transporter light trong>chatrong>introng>trong>, L system), member 8
Enables several functions, trong>introng>cludtrong>introng>g neutral L-amtrong>introng>o acid transmembrane transporter activity; protetrong>introng> heterodimerization activity; and secondary active transmembrane transporter activity. trong>Introng>volved trong>introng> L-alantrong>introng>e import across plasma membrane; L-leuctrong>introng>e import across plasma membrane; and thyroid hormone transport. Located trong>introng> basolateral plasma membrane and microvillus membrane. [provided by Alliance of Genome Resources, Mar 2025]
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solute carrier family 7 (amtrong>introng>o acid transporter light trong>chatrong>introng>trong>, y+L system), member 7
The protetrong>introng> encoded by this gene is the light subunit of a cationic amtrong>introng>o acid transporter. This sodium-trong>introng>dependent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protetrong>introng> SLC3A2. This transporter is found trong>introng> epithelial cell membranes where it transfers cationic and large neutral amtrong>introng>o acids from the cell to the extracellular space. Defects trong>introng> this gene are a cause of lystrong>introng>uric protetrong>introng> trong>introng>tolerance (LPI). Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jul 2011]
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solute carrier family 7 (amtrong>introng>o acid transporter light trong>chatrong>introng>trong>, L system), member 5
Enables L-amtrong>introng>o acid transmembrane transporter activity and secondary active transmembrane transporter activity. trong>Introng>volved trong>introng> carboxylic acid transport; thyroid hormone transport; and xenobiotic transport. Located trong>introng> several cellular components, trong>introng>cludtrong>introng>g apical plasma membrane; cytosol; and microvillus membrane. Part of amtrong>introng>o acid transport complex. Implicated trong>introng> cholangiocarctrong>introng>oma; colon cancer; hepatocellular carctrong>introng>oma; and lung squamous cell carctrong>introng>oma. Biomarker of esophagitis; gastrotrong>introng>testtrong>introng>al system cancer (multiple); malignant astrocytoma (multiple); and respiratory system cancer (multiple). [provided by Alliance of Genome Resources, Mar 2025]
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myostrong>introng>, light trong>chatrong>introng>trong> 9, regulatory pseudogene
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myostrong>introng> heavy trong>chatrong>introng>trong> gene cluster antisense RNA
Predicted to enable primary miRNA btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> response to muscle activity and skeletal muscle fiber development. Predicted to act upstream of or withtrong>introng> with a positive effect on gene expression. Predicted to be located trong>introng> cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]
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Ig heavy trong>chatrong>introng>trong> V region 914-like
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sertrong>introng>e palmitoyltransferase, long trong>chatrong>introng>trong> base subunit 2
This gene encodes a long trong>chatrong>introng>trong> base subunit of sertrong>introng>e palmitoyltransferase. Sertrong>introng>e palmitoyltransferase, which consists of two different subunits, is the key enzyme trong>introng> sphtrong>introng>golipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-sertrong>introng>e and palmitoyl-CoA to 3-oxosphtrong>introng>gantrong>introng>e. Mutations trong>introng> this gene were identified trong>introng> patients with hereditary sensory neuropathy type I. [provided by RefSeq, Mar 2011]
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sertrong>introng>e palmitoyltransferase, long trong>chatrong>introng>trong> base subunit 3
This gene encodes a subunit of the sertrong>introng>e palmitoyltransferase complex which catalyzes the rate-limittrong>introng>g step trong>introng> sphtrong>introng>golipid biosynthesis. This subunit metabolizes lauroyl- and myristoyl-CoA and generates C14 and C16-sphtrong>introng>goid bases. [provided by RefSeq, Mar 2017]
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sertrong>introng>e palmitoyltransferase, long trong>chatrong>introng>trong> base subunit 1
This gene encodes a member of the class-II pyridoxal-phosphate-dependent amtrong>introng>otransferase family. The encoded protetrong>introng> is the long trong>chatrong>introng>trong> base subunit 1 of sertrong>introng>e palmitoyltransferase. Sertrong>introng>e palmitoyltransferase converts L-sertrong>introng>e and palmitoyl-CoA to 3-oxosphtrong>introng>gantrong>introng>e with pyridoxal 5'-phosphate and is the key enzyme trong>introng> sphtrong>introng>golipid biosynthesis. Mutations trong>introng> this gene were identified trong>introng> patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encodtrong>introng>g different isoforms have been identified. Pseudogenes of this gene have been deftrong>introng>ed on chromosomes 1, 6, 10, and 13. [provided by RefSeq, Jul 2013]
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clathrtrong>introng> heavy trong>chatrong>introng>trong> ltrong>introng>ker domatrong>introng> contatrong>introng>trong>introng>g 1
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immunoglobultrong>introng> kappa light trong>chatrong>introng>trong> variable region
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fibril-formtrong>introng>g collagen alpha trong>chatrong>introng>trong>
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collagen alpha-1(I) trong>chatrong>introng>trong>-like
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Ig heavy trong>chatrong>introng>trong> V-III region J606-like
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Ig lambda trong>chatrong>introng>trong> V-I region BL2-like
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short trong>chatrong>introng>trong> dehydrogenase/reductase family 16C, member 6, pseudogene
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dynetrong>introng>, axonemal, heavy trong>chatrong>introng>trong> 1
This gene encodes an trong>introng>ner dynetrong>introng> arm heavy trong>chatrong>introng>trong> that provides structural support between the radial spokes and the outer doublet of the sperm tail. Naturally occurrtrong>introng>g mutations trong>introng> this gene are associated with primary ciliary dysktrong>introng>esia and multiple morphological anomalies of the flagella that result trong>introng> asthenozoospermia and male trong>introng>fertility. Mice with a homozygous knockout of the orthologous gene are viable but have reduced sperm motility and are trong>introng>fertile. [provided by RefSeq, Feb 2017]
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dynetrong>introng>, axonemal, heavy trong>chatrong>introng>trong> 6
This gene belongs to the dynetrong>introng> family, whose members encode large protetrong>introng>s that are constituents of the microtubule-associated motor protetrong>introng> complex. This complex is composed of dynetrong>introng> heavy, trong>introng>termediate and light trong>chatrong>introng>trong>s, which can be axonemal or cytoplasmic. This protetrong>introng> is an axonemal dynetrong>introng> heavy trong>chatrong>introng>trong>. It is trong>introng>volved trong>introng> productrong>introng>g force for ciliary beattrong>introng>g by ustrong>introng>g energy from ATP hydrolysis. Mutations trong>introng> this gene may cause primary ciliary dysktrong>introng>esia (PCD) as well as heterotaxy. [provided by RefSeq, Jun 2016]
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dynetrong>introng>, axonemal, heavy trong>chatrong>introng>trong> 7
DNAH7 is a component of the trong>introng>ner dynetrong>introng> arm of ciliary axonemes (Zhang et al., 2002 [PubMed 11877439]).[supplied by OMIM, Mar 2008]
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dynetrong>introng>, axonemal, heavy trong>chatrong>introng>trong> 5
This gene encodes a dynetrong>introng> protetrong>introng>, which is part of a microtubule-associated motor protetrong>introng> complex consisttrong>introng>g of heavy, light, and trong>introng>termediate trong>chatrong>introng>trong>s. This protetrong>introng> is an axonemal heavy trong>chatrong>introng>trong> dynetrong>introng>. It functions as a force-generattrong>introng>g protetrong>introng> with ATPase activity, whereby the release of ADP is thought to produce the force-productrong>introng>g power stroke. Mutations trong>introng> this gene cause primary ciliary dysktrong>introng>esia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009]
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dynetrong>introng>, axonemal, heavy trong>chatrong>introng>trong> 8
The protetrong>introng> encoded by this gene is a heavy trong>chatrong>introng>trong> of an axonemal dynetrong>introng> trong>introng>volved trong>introng> sperm and respiratory cilia motility. Axonemal dynetrong>introng>s generate force through hydrolysis of ATP and btrong>introng>dtrong>introng>g to microtubules. [provided by RefSeq, Jan 2012]
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dynetrong>introng>, axonemal, heavy trong>chatrong>introng>trong> 9
This gene encodes the heavy trong>chatrong>introng>trong> subunit of axonemal dynetrong>introng>, a large multi-subunit molecular motor. Axonemal dynetrong>introng> attaches to microtubules and hydrolyzes ATP to mediate the movement of cilia and flagella. The gene expresses at least two transcript variants; additional variants have been described, but their full length nature has not been determtrong>introng>ed. [provided by RefSeq, Jul 2008]
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acyl-CoA synthetase medium-trong>chatrong>introng>trong> family member 2A
This gene encodes a mitochondrial acyl-coenzyme A synthetase that is specific for medium trong>chatrong>introng>trong> fatty acids. These enzymes catalyze fatty acid activation, the first step of fatty acid metabolism, through the transfer of acyl-CoA. These enzymes also participate trong>introng> the glyctrong>introng>e conjugation pathway trong>introng> the detoxification of xenobiotics such as benzoate and ibuprofen. Expression levels of this gene trong>introng> the kidney may be correlated with kidney function. This gene and its paralog ACSM2B (Gene ID: 348158), both present on chromosome 16, likely arose from a chromosomal duplication event. [provided by RefSeq, May 2017]
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acyl-CoA synthetase medium-trong>chatrong>introng>trong> family member 2B
Enables benzoate-CoA ligase activity. Predicted to be trong>introng>volved trong>introng> acyl-CoA metabolic process and fatty acid biosynthetic process. Located trong>introng> mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]
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collagen alpha-1(I) trong>chatrong>introng>trong>-like
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myostrong>introng>, light trong>chatrong>introng>trong> 12B, regulatory pseudogene
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dihydrolipoamide branched trong>chatrong>introng>trong> transacylase E2
The branched-trong>chatrong>introng>trong> alpha-keto acid dehydrogenase complex (BCKD) is an trong>introng>ner-mitochondrial enzyme complex trong>introng>volved trong>introng> the breakdown of the branched-trong>chatrong>introng>trong> amtrong>introng>o acids isoleuctrong>introng>e, leuctrong>introng>e, and valtrong>introng>e. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations trong>introng> this gene result trong>introng> maple syrup urtrong>introng>e disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determtrong>introng>ed. [provided by RefSeq, Jul 2008]
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myostrong>introng> light trong>chatrong>introng>trong> ktrong>introng>ase pseudogene
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acyl-CoA dehydrogenase, C-2 to C-3 short trong>chatrong>introng>trong>
This gene encodes a tetrameric mitochondrial flavoprotetrong>introng>, which is a member of the acyl-CoA dehydrogenase family. This enzyme catalyzes the trong>introng>itial step of the mitochondrial fatty acid trong>betatrong>-oxidation pathway. Mutations trong>introng> this gene have been associated with short-trong>chatrong>introng>trong> acyl-CoA dehydrogenase (SCAD) deficiency. Alternative splictrong>introng>g results trong>introng> two variants which encode different isoforms. [provided by RefSeq, Oct 2014]
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acyl-CoA dehydrogenase, long trong>chatrong>introng>trong>
The protetrong>introng> encoded by this gene belongs to the acyl-CoA dehydrogenase family, which is a family of mitochondrial flavoenzymes trong>introng>volved trong>introng> fatty acid and branched trong>chatrong>introng>trong> amtrong>introng>o-acid metabolism. This protetrong>introng> is one of the four enzymes that catalyze the trong>introng>itial step of mitochondrial trong>betatrong>-oxidation of straight-trong>chatrong>introng>trong> fatty acid. Defects trong>introng> this gene are the cause of long-trong>chatrong>introng>trong> acyl-CoA dehydrogenase (LCAD) deficiency, leadtrong>introng>g to nonketotic hypoglycemia. [provided by RefSeq, Jul 2008]
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acyl-CoA dehydrogenase, C-4 to C-12 straight trong>chatrong>introng>trong>
This gene encodes the medium-trong>chatrong>introng>trong> specific (C4 to C12 straight trong>chatrong>introng>trong>) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the trong>introng>itial step of the mitochondrial fatty acid trong>betatrong>-oxidation pathway. Defects trong>introng> this gene cause medium-trong>chatrong>introng>trong> acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasttrong>introng>g hypoglycemia, and encephalopathy, which can result trong>introng> trong>introng>fantile death. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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enoyl CoA hydratase, short trong>chatrong>introng>trong>, 1, mitochondrial
The protetrong>introng> encoded by this gene functions trong>introng> the second step of the mitochondrial fatty acid trong>betatrong>-oxidation pathway. It catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA) trong>introng>termediates to L-3-hydroxyacyl-CoAs. The gene product is a member of the hydratase/isomerase superfamily. It localizes to the mitochondrial matrix. Transcript variants utiliztrong>introng>g alternative transcription trong>introng>itiation sites have been described trong>introng> the literature. [provided by RefSeq, Jul 2008]
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dynetrong>introng>, axonemal, heavy trong>chatrong>introng>trong> 2
Dynetrong>introng>s are microtubule-associated motor protetrong>introng> complexes composed of several heavy, light, and trong>introng>termediate trong>chatrong>introng>trong>s. The axonemal dynetrong>introng>s, found trong>introng> cilia and flagella, are components of the outer and trong>introng>ner dynetrong>introng> arms attached to the peripheral microtubule doublets. DNAH2 is an axonemal trong>introng>ner arm dynetrong>introng> heavy trong>chatrong>introng>trong> (Chapeltrong>introng> et al., 1997 [PubMed 9256245]).[supplied by OMIM, Mar 2008]
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dynetrong>introng>, axonemal, heavy trong>chatrong>introng>trong> 11
This gene encodes a ciliary outer dynetrong>introng> arm protetrong>introng> and is a member of the dynetrong>introng> heavy trong>chatrong>introng>trong> family. It is a microtubule-dependent motor ATPase and has been reported to be trong>introng>volved trong>introng> the movement of respiratory cilia. Mutations trong>introng> this gene have been implicated trong>introng> caustrong>introng>g Kartagener Syndrome (a combtrong>introng>ation of situs trong>introng>versus totalis and Primary Ciliary Dysktrong>introng>esia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility. [provided by RefSeq, Mar 2013]
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Ig lambda trong>chatrong>introng>trong> V-I region BL2-like
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dynetrong>introng> heavy trong>chatrong>introng>trong> domatrong>introng> 1
Predicted to enable dynetrong>introng> trong>introng>termediate trong>chatrong>introng>trong> btrong>introng>dtrong>introng>g activity; dynetrong>introng> light trong>introng>termediate trong>chatrong>introng>trong> btrong>introng>dtrong>introng>g activity; and mtrong>introng>us-end-directed microtubule motor activity. trong>Introng>volved trong>introng> sperm flagellum assembly. Located trong>introng> sperm flagellum. Implicated trong>introng> spermatogenic failure 65. [provided by Alliance of Genome Resources, Mar 2025]
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myostrong>introng>, light trong>chatrong>introng>trong> 12B, regulatory pseudogene
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myostrong>introng>, light trong>chatrong>introng>trong> 12B, regulatory pseudogene
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trong>introng>ter-alpha-trypstrong>introng> trong>introng>hibitor heavy trong>chatrong>introng>trong> 1
This gene encodes a member of the trong>introng>ter-alpha-trypstrong>introng> trong>introng>hibitor family of protetrong>introng>s. Alternative splictrong>introng>g results trong>introng> multiple transcript variants, at least one of which encodes a preproprotetrong>introng> that is proteolytically processed to generate the heavy trong>chatrong>introng>trong> of the trong>introng>ter-alpha-trypstrong>introng> trong>introng>hibitor complex, which is secreted by hepatocytes trong>introng>to the blood. The heavy trong>chatrong>introng>trong> also trong>introng>teracts with hyaluronan, and this trong>introng>teraction may play a role trong>introng> ovulation and fertilization, and has been implicated trong>introng> multiple trong>introng>flammatory diseases. This gene is present trong>introng> a gene cluster on chromosome 3. [provided by RefSeq, Nov 2015]
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trong>introng>ter-alpha-trypstrong>introng> trong>introng>hibitor heavy trong>chatrong>introng>trong> 3
This gene encodes the heavy trong>chatrong>introng>trong> subunit of the pre-alpha-trypstrong>introng> trong>introng>hibitor complex. This complex may stabilize the extracellular matrix through its ability to btrong>introng>d hyaluronic acid. Polymorphisms of this gene may be associated with trong>introng>creased risk for schizophrenia and major depressive disorder. This gene is present trong>introng> an trong>introng>ter-alpha-trypstrong>introng> trong>introng>hibitor family gene cluster on chromosome 3. [provided by RefSeq, Jul 2015]
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trong>introng>ter-alpha-trypstrong>introng> trong>introng>hibitor heavy trong>chatrong>introng>trong> 2
The trong>introng>ter-alpha-trypstrong>introng> trong>introng>hibitors (ITI) are a family of structurally related plasma sertrong>introng>e protease trong>introng>hibitors trong>introng>volved trong>introng> extracellular matrix stabilization and trong>introng> prevention of tumor metastasis. The ITI family contatrong>introng>s multiple protetrong>introng>s made up of a light trong>chatrong>introng>trong> (see MIM 176870) and a variable number of heavy trong>chatrong>introng>trong>s (Salier et al., 1987 [PubMed 2446322]; Himmelfarb et al., 2004 [PubMed 14744536]).[supplied by OMIM, Nov 2009]
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trong>introng>ter-alpha-trypstrong>introng> trong>introng>hibitor heavy trong>chatrong>introng>trong> family, member 5
This gene encodes a heavy trong>chatrong>introng>trong> component of one of the trong>introng>ter-alpha-trypstrong>introng> trong>introng>hibitor (ITI) family members. ITI protetrong>introng>s are trong>introng>volved trong>introng> extracellular matrix stabilization and trong>introng> the prevention of tumor metastasis. They are also structurally related plasma sertrong>introng>e protease trong>introng>hibitors and are composed of a light trong>chatrong>introng>trong> and varytrong>introng>g numbers of heavy trong>chatrong>introng>trong>s. This family member is thought to function as a tumor suppressor trong>introng> breast and thyroid cancers. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Aug 2011]
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trong>introng>ter-alpha-trypstrong>introng> trong>introng>hibitor heavy trong>chatrong>introng>trong> family, member 4
The protetrong>introng> encoded by this gene is secreted trong>introng>to the blood, where it is cleaved by plasma kallikretrong>introng> trong>introng>to two smaller forms. Expression of this gene has been detected only trong>introng> liver, and it seems to be upregulated durtrong>introng>g surgical trauma. This gene is part of a cluster of similar genes on chromosome 3. Two transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
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trong>introng>ter-alpha-trypstrong>introng> trong>introng>hibitor heavy trong>chatrong>introng>trong> family, member 6
The protetrong>introng> encoded by this gene belongs to the trong>introng>teralpha trypstrong>introng> trong>introng>hibitor heavy trong>chatrong>introng>trong> (ITIH) family. trong>Introng>teralpha trypstrong>introng> trong>introng>hibitor (ITI) is composed of two heavy trong>chatrong>introng>trong>s (contatrong>introng>trong>introng>g VWA domatrong>introng>) and one light trong>chatrong>introng>trong>. The light trong>chatrong>introng>trong> confers the protease-trong>introng>hibitor function, while the heavy trong>chatrong>introng>trong>s are trong>introng>volved trong>introng> mediattrong>introng>g protetrong>introng>-protetrong>introng> trong>introng>teractions with the components of the extracellular matrix. [provided by RefSeq, Sep 2009]
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myostrong>introng>, light trong>chatrong>introng>trong> 6, alkali, smooth muscle and non-muscle
Myostrong>introng> is a hexameric ATPase cellular motor protetrong>introng>. It is composed of two heavy trong>chatrong>introng>trong>s, two nonphosphorylatable alkali light trong>chatrong>introng>trong>s, and two phosphorylatable regulatory light trong>chatrong>introng>trong>s. This gene encodes a myostrong>introng> alkali light trong>chatrong>introng>trong> that is expressed trong>introng> smooth muscle and non-muscle tissues. Genomic sequences representtrong>introng>g several pseudogenes have been described and two transcript variants encodtrong>introng>g different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
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myostrong>introng>, light trong>chatrong>introng>trong> 7, regulatory
Predicted to enable calcium ion btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> cardiac muscle tissue development and heart contraction. Located trong>introng> A band. [provided by Alliance of Genome Resources, Mar 2025]
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myostrong>introng>, light trong>chatrong>introng>trong> 4, alkali; atrial, embryonic
Myostrong>introng> is a hexameric ATPase cellular motor protetrong>introng>. It is composed of two myostrong>introng> heavy trong>chatrong>introng>trong>s, two nonphosphorylatable myostrong>introng> alkali light trong>chatrong>introng>trong>s, and two phosphorylatable myostrong>introng> regulatory light trong>chatrong>introng>trong>s. This gene encodes a myostrong>introng> alkali light trong>chatrong>introng>trong> that is found trong>introng> embryonic muscle and adult atria. Two alternatively spliced transcript variants encodtrong>introng>g the same protetrong>introng> have been found for this gene. [provided by RefSeq, Jul 2008]
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myostrong>introng>, light trong>chatrong>introng>trong> 5, regulatory
This gene encodes one of the myostrong>introng> light trong>chatrong>introng>trong>s, a component of the hexameric ATPase cellular motor protetrong>introng> myostrong>introng>. Myostrong>introng> is composed of two heavy trong>chatrong>introng>trong>s, two nonphosphorylatable alkali light trong>chatrong>introng>trong>s, and two phosphorylatable regulatory light trong>chatrong>introng>trong>s. This gene product, one of the regulatory light trong>chatrong>introng>trong>s, is expressed trong>introng> fetal muscle and trong>introng> adult rettrong>introng>a, cerebellum, and basal ganglia. [provided by RefSeq, Jul 2008]
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myostrong>introng>, light trong>chatrong>introng>trong> 2, regulatory, cardiac, slow
This gene encodes a major sarcomeric protetrong>introng> trong>introng> mammalian striated muscle. The encoded protetrong>introng> plays a role trong>introng> embryonic heart muscle structure and function, while phosphorylation of the encoded protetrong>introng> is trong>introng>volved trong>introng> cardiac myostrong>introng> cycltrong>introng>g ktrong>introng>etics, torsion and function trong>introng> adults. Mutations trong>introng> this gene are associated with hypertrophic cardiomyopathy 10 and trong>introng>fant-onset myopathy. [provided by RefSeq, May 2022]
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myostrong>introng>, light trong>chatrong>introng>trong> 3, alkali; ventricular, skeletal, slow
MYL3 encodes myostrong>introng> light trong>chatrong>introng>trong> 3, an alkali light trong>chatrong>introng>trong> also referred to trong>introng> the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations trong>introng> MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]
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myostrong>introng>, light trong>chatrong>introng>trong> 1, alkali; skeletal, fast
Myostrong>introng> is a hexameric ATPase cellular motor protetrong>introng>. It is composed of two heavy trong>chatrong>introng>trong>s, two nonphosphorylatable alkali light trong>chatrong>introng>trong>s, and two phosphorylatable regulatory light trong>chatrong>introng>trong>s. This gene encodes a myostrong>introng> alkali light trong>chatrong>introng>trong> expressed trong>introng> fast skeletal muscle. Two transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]
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myostrong>introng>, light trong>chatrong>introng>trong> 9, regulatory
Myostrong>introng>, a structural component of muscle, consists of two heavy trong>chatrong>introng>trong>s and four light trong>chatrong>introng>trong>s. The protetrong>introng> encoded by this gene is a myostrong>introng> light trong>chatrong>introng>trong> that may regulate muscle contraction by modulattrong>introng>g the ATPase activity of myostrong>introng> heads. The encoded protetrong>introng> btrong>introng>ds calcium and is activated by myostrong>introng> light trong>chatrong>introng>trong> ktrong>introng>ase. Two transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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myostrong>introng> light trong>chatrong>introng>trong> ktrong>introng>ase
This gene, a muscle member of the immunoglobultrong>introng> gene superfamily, encodes myostrong>introng> light trong>chatrong>introng>trong> ktrong>introng>ase which is a calcium/calmodultrong>introng> dependent enzyme. This ktrong>introng>ase phosphorylates myostrong>introng> regulatory light trong>chatrong>introng>trong>s to facilitate myostrong>introng> trong>introng>teraction with acttrong>introng> filaments to produce contractile activity. This gene encodes both smooth muscle and nonmuscle isoforms. trong>Introng> addition, ustrong>introng>g a separate promoter trong>introng> an trong>introng>tron trong>introng> the 3' region, it encodes teloktrong>introng>, a small protetrong>introng> identical trong>introng> sequence to the C-termtrong>introng>us of myostrong>introng> light trong>chatrong>introng>trong> ktrong>introng>ase, that is trong>introng>dependently expressed trong>introng> smooth muscle and functions to stabilize unphosphorylated myostrong>introng> filaments. A pseudogene is located on the p arm of chromosome 3. Four transcript variants that produce four isoforms of the calcium/calmodultrong>introng> dependent enzyme have been identified as well as two transcripts that produce two isoforms of teloktrong>introng>. Additional variants have been identified but lack full length transcripts. [provided by RefSeq, Jul 2008]
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dynetrong>introng>, axonemal, heavy trong>chatrong>introng>trong> 3
This gene belongs to the dynetrong>introng> family, whose members encode large protetrong>introng>s that are constituents of the microtubule-associated motor protetrong>introng> complex. This complex is composed of dynetrong>introng> heavy, trong>introng>termediate and light trong>chatrong>introng>trong>s, which can be axonemal or cytoplasmic. This protetrong>introng> is an axonemal dynetrong>introng> heavy trong>chatrong>introng>trong>. It is trong>introng>volved trong>introng> productrong>introng>g force for ciliary beattrong>introng>g by ustrong>introng>g energy from ATP hydrolysis. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g disttrong>introng>ct isoforms. [provided by RefSeq, Dec 2016]
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short trong>chatrong>introng>trong> dehydrogenase/reductase family 42E, member 1 pseudogene
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short trong>chatrong>introng>trong> dehydrogenase/reductase family 42E, member 1 pseudogene
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short trong>chatrong>introng>trong> dehydrogenase/reductase family 42E, member 1 pseudogene
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immunoglobultrong>introng> heavy trong>chatrong>introng>trong> variable region
Predicted to enable antigen btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> immunoglobultrong>introng> mediated immune response. Predicted to be located trong>introng> extracellular region and plasma membrane. Predicted to be part of immunoglobultrong>introng> complex. [provided by Alliance of Genome Resources, Mar 2025]
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dynetrong>introng>, axonemal, heavy trong>chatrong>introng>trong> 10 opposite strand
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acyl-CoA synthetase medium-trong>chatrong>introng>trong> family member 6 pseudogene
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zeta-trong>chatrong>introng>trong> (TCR) associated protetrong>introng> ktrong>introng>ase 70kDa
This gene encodes an enzyme belongtrong>introng>g to the protetrong>introng> tyrostrong>introng>e ktrong>introng>ase family, and it plays a role trong>introng> T-cell development and lymphocyte activation. This enzyme, which is phosphorylated on tyrostrong>introng>e residues upon T-cell antigen trong>receptortrong> (TCR) stimulation, functions trong>introng> the trong>introng>itial step of TCR-mediated signal transduction trong>introng> combtrong>introng>ation with the Src family ktrong>introng>ases, Lck and Fyn. This enzyme is also essential for thymocyte development. Mutations trong>introng> this gene cause selective T-cell defect, a severe combtrong>introng>ed immunodeficiency disease characterized by a selective absence of CD8-positive T-cells. Two transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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myostrong>introng> heavy trong>chatrong>introng>trong> IB-like
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jotrong>introng>trong>introng>g trong>chatrong>introng>trong> of multimeric IgA and IgM
Enables IgA btrong>introng>dtrong>introng>g activity and protetrong>introng> homodimerization activity. Contributes to several functions, trong>introng>cludtrong>introng>g immunoglobultrong>introng> trong>receptortrong> btrong>introng>dtrong>introng>g activity; peptidoglycan btrong>introng>dtrong>introng>g activity; and phosphatidylcholtrong>introng>e btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g glomerular filtration; trong>introng>nate immune response; and positive regulation of respiratory burst. Located trong>introng> extracellular space. Part of monomeric IgA immunoglobultrong>introng> complex; pentameric IgM immunoglobultrong>introng> complex; and secretory dimeric IgA immunoglobultrong>introng> complex. [provided by Alliance of Genome Resources, Mar 2025]
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branched trong>chatrong>introng>trong> amtrong>introng>o-acid transamtrong>introng>ase 2, mitochondrial
This gene encodes a branched trong>chatrong>introng>trong> amtrong>introng>otransferase found trong>introng> mitochondria. The encoded protetrong>introng> forms a dimer that catalyzes the first step trong>introng> the production of the branched trong>chatrong>introng>trong> amtrong>introng>o acids leuctrong>introng>e, isoleuctrong>introng>e, and valtrong>introng>e. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
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branched trong>chatrong>introng>trong> amtrong>introng>o-acid transamtrong>introng>ase 1, cytosolic
This gene encodes the cytosolic form of the enzyme branched-trong>chatrong>introng>trong> amtrong>introng>o acid transamtrong>introng>ase. This enzyme catalyzes the reversible transamtrong>introng>ation of branched-trong>chatrong>introng>trong> alpha-keto acids to branched-trong>chatrong>introng>trong> L-amtrong>introng>o acids essential for cell growth. Two different cltrong>introng>ical disorders have been attributed to a defect of branched-trong>chatrong>introng>trong> amtrong>introng>o acid transamtrong>introng>ation: hypervaltrong>introng>emia and hyperleuctrong>introng>e-isoleuctrong>introng>emia. As there is also a gene encodtrong>introng>g a mitochondrial form of this enzyme, mutations trong>introng> either gene may contribute to these disorders. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2010]
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collagen alpha-1(I) trong>chatrong>introng>trong>-like
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collagen alpha-2(I) trong>chatrong>introng>trong>-like
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dynetrong>introng>, cytoplasmic 2, heavy trong>chatrong>introng>trong> 1
This gene encodes a large cytoplasmic dynetrong>introng> protetrong>introng> that is trong>introng>volved trong>introng> retrograde transport trong>introng> the cilium and has a role trong>introng> trong>introng>traflagellar transport, a process required for ciliary/flagellar assembly. Mutations trong>introng> this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often trong>introng>volve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g disttrong>introng>ct protetrong>introng>s. [provided by RefSeq, Jan 2010]
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ktrong>introng>estrong>introng> heavy trong>chatrong>introng>trong> member 2A
The protetrong>introng> encoded by this gene is a plus end-directed motor required for normal mitotic progression. The encoded protetrong>introng> is required for normal sptrong>introng>dle activity durtrong>introng>g mitosis and is necessary for normal bratrong>introng> development. Several transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
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myostrong>introng>, light trong>chatrong>introng>trong> 12A pseudogene 1
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collagen alpha-1(III) trong>chatrong>introng>trong>-like
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sertrong>introng>e palmitoyltransferase, long trong>chatrong>introng>trong> base subunit 2 pseudogene
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collagen alpha-1(II) trong>chatrong>introng>trong>-like
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immunoglobultrong>introng> lambda light trong>chatrong>introng>trong>-like
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sertrong>introng>e palmitoyltransferase, long trong>chatrong>introng>trong> base subunit 1 pseudogene 3
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complement component 1, q subcomponent, B trong>chatrong>introng>trong>
This gene encodes the B-trong>chatrong>introng>trong> polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q is composed of 18 polypeptide trong>chatrong>introng>trong>s which trong>introng>clude 6 A-trong>chatrong>introng>trong>s, 6 B-trong>chatrong>introng>trong>s, and 6 C-trong>chatrong>introng>trong>s. Each trong>chatrong>introng>trong> contatrong>introng>s an N-termtrong>introng>al collagen-like region and a C-termtrong>introng>al C1q globular domatrong>introng>. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. [provided by RefSeq, Dec 2016]
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myostrong>introng>, light trong>chatrong>introng>trong> 6B, alkali, smooth muscle and non-muscle
Myostrong>introng> is a hexameric ATPase cellular motor protetrong>introng>. It is composed of two heavy trong>chatrong>introng>trong>s, two nonphosphorylatable alkali light trong>chatrong>introng>trong>s, and two phosphorylatable regulatory light trong>chatrong>introng>trong>s. This gene encodes a myostrong>introng> alkali light trong>chatrong>introng>trong> expressed trong>introng> both slow-twitch skeletal muscle and trong>introng> nonmuscle tissue. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Dec 2010]
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CD74 molecule, major histocompatibility complex, class II trong>introng>variant trong>chatrong>introng>trong>
The protetrong>introng> encoded by this gene associates with class II major histocompatibility complex (MHC) and is an important chaperone that regulates antigen presentation for immune response. It also serves as cell surface trong>receptortrong> for the cytoktrong>introng>e macrophage migration trong>introng>hibitory factor (MIF) which, when bound to the encoded protetrong>introng>, trong>introng>itiates survival pathways and cell proliferation. This protetrong>introng> also trong>introng>teracts with amyloid precursor protetrong>introng> (APP) and suppresses the production of amyloid trong>betatrong> (Atrong>betatrong>). Multiple alternatively spliced transcript variants encodtrong>introng>g different isoforms have been identified. [provided by RefSeq, Aug 2011]
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Ig heavy trong>chatrong>introng>trong> V-I region V35-like
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solute carrier family 3 (amtrong>introng>o acid transporter heavy trong>chatrong>introng>trong>), member 2
This gene is a member of the solute carrier family and encodes a cell surface, transmembrane protetrong>introng>. The protetrong>introng> exists as the heavy trong>chatrong>introng>trong> of a heterodimer, covalently bound through di-sulfide bonds to one of several possible light trong>chatrong>introng>trong>s. The encoded transporter plays a role trong>introng> regulation of trong>introng>tracellular calcium levels and transports L-type amtrong>introng>o acids. Alternatively spliced transcript variants, encodtrong>introng>g different isoforms, have been characterized. [provided by RefSeq, Nov 2010]
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solute carrier family 3 (amtrong>introng>o acid transporter heavy trong>chatrong>introng>trong>), member 1
This gene encodes a type II membrane glycoprotetrong>introng> which is one of the components of the renal amtrong>introng>o acid transporter which transports neutral and basic amtrong>introng>o acids trong>introng> the renal tubule and trong>introng>testtrong>introng>al tract. Mutations and deletions trong>introng> this gene are associated with cysttrong>introng>uria. Alternatively spliced transcript variants have been described, but their biological validity has not been determtrong>introng>ed. [provided by RefSeq, Jul 2008]
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collagen alpha-2(IV) trong>chatrong>introng>trong>-like
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acyl-CoA synthetase medium-trong>chatrong>introng>trong> family member 4 pseudogene
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short trong>chatrong>introng>trong> dehydrogenase/reductase family 42E, member 1 pseudogene 1
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collagen alpha-3(IX) trong>chatrong>introng>trong>-like
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dynetrong>introng>, axonemal, light trong>introng>termediate trong>chatrong>introng>trong> 1
This gene is the human homolog of the Chlamydomonas trong>introng>ner dynetrong>introng> arm gene, p28. The precise function of this gene is not known, however, it is a potential candidate for immotile cilia syndrome (ICS). Ultrastructural defects of the trong>introng>ner dynetrong>introng> arms are seen trong>introng> patients with ICS. Immotile mutant stratrong>introng>s of Chlamydomonas, a biflagellated algae, exhibit similar defects. [provided by RefSeq, Jul 2008]
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Ig heavy trong>chatrong>introng>trong> V-I region V35-like
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collagen alpha-1(III) trong>chatrong>introng>trong>-like
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dynetrong>introng> heavy trong>chatrong>introng>trong> -like pseudogene
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ig kappa trong>chatrong>introng>trong> V-III region VH-like pseudogene
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ktrong>introng>estrong>introng> heavy trong>chatrong>introng>trong> member 2A pseudogene
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Ig heavy trong>chatrong>introng>trong> V-III region VH26-like
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dynetrong>introng>, cytoplasmic 1, heavy trong>chatrong>introng>trong> 1
Dynetrong>introng>s are a group of microtubule-activated ATPases that function as molecular motors. They are divided trong>introng>to two subgroups of axonemal and cytoplasmic dynetrong>introng>s. The cytoplasmic dynetrong>introng>s function trong>introng> trong>introng>tracellular motility, trong>introng>cludtrong>introng>g retrograde axonal transport, protetrong>introng> sorttrong>introng>g, organelle movement, and sptrong>introng>dle dynamics. Molecules of conventional cytoplasmic dynetrong>introng> are comprised of 2 heavy trong>chatrong>introng>trong> polypeptides and a number of trong>introng>termediate and light trong>chatrong>introng>trong>s.This gene encodes a member of the cytoplasmic dynetrong>introng> heavy trong>chatrong>introng>trong> family. [provided by RefSeq, Oct 2008]
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collagen alpha-1(I) trong>chatrong>introng>trong>-like
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collagen alpha-1(III) trong>chatrong>introng>trong>-like
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short trong>chatrong>introng>trong> dehydrogenase/reductase family 9C, member 7
This gene encodes a protetrong>introng> with similarity to the short-trong>chatrong>introng>trong> dehydrogenase/reductase (SDR) family but has not been shown to have rettrong>introng>oid or dehydrogenase activities. [provided by RefSeq, Apr 2010]
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collagen alpha-1(II) trong>chatrong>introng>trong>-like
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acyl-CoA synthetase long-trong>chatrong>introng>trong> family member 3 pseudogene
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myostrong>introng> light trong>chatrong>introng>trong>, phosphorylatable, fast skeletal muscle
Predicted to enable calcium ion btrong>introng>dtrong>introng>g activity. Predicted to be a structural constituent of muscle. trong>Introng>volved trong>introng> muscle contraction. Located trong>introng> lysosomal membrane. Implicated trong>introng> distal arthrogryposis type 1C. [provided by Alliance of Genome Resources, Mar 2025]
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solute carrier family 7 (amtrong>introng>o acid transporter light trong>chatrong>introng>trong>, L system), member 5 pseudogene 1
This locus represents a pseudogene of the L-type amtrong>introng>o acid transporter 1. Transcripts trong>introng>itiattrong>introng>g at this locus read through to downstream SMG1 pseudogene 2 (SMG1P2). [provided by RefSeq, Feb 2016]
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solute carrier family 7 (amtrong>introng>o acid transporter light trong>chatrong>introng>trong>, L system), member 5 pseudogene 2
Predicted to enable transmembrane transporter activity. Predicted to be trong>introng>volved trong>introng> L-alpha-amtrong>introng>o acid transmembrane transport. Predicted to be located trong>introng> membrane. [provided by Alliance of Genome Resources, Mar 2025]
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collagen alpha-1(III) trong>chatrong>introng>trong>-like
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collagen alpha-1(I) trong>chatrong>introng>trong>-like
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myostrong>introng> heavy trong>chatrong>introng>trong>-associated RNA transcript
This gene encodes a spliced long non-codtrong>introng>g RNA that may act as a cardioprotective agent trong>introng> the heart. Based on a study of a similar gene trong>introng> mouse, the encoded transcript may regulate chromattrong>introng> remodeltrong>introng>g by acttrong>introng>g as a decoy to the BRG1 chromattrong>introng> repressor complex thus preventtrong>introng>g it from btrong>introng>dtrong>introng>g to its genomic targets. Blocktrong>introng>g the actions of BRG1 could be crucial trong>introng> protecttrong>introng>g the heart from pathological hypertrophy. [provided by RefSeq, Dec 2014]
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collagen alpha-1(III) trong>chatrong>introng>trong>-like
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myostrong>introng>, light trong>chatrong>introng>trong> 6 pseudogene 3
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clathrtrong>introng>, light trong>chatrong>introng>trong> A
Clathrtrong>introng> is a large, soluble protetrong>introng> composed of heavy and light trong>chatrong>introng>trong>s. It functions as the matrong>introng> structural component of the lattice-type cytoplasmic face of coated pits and vesicles which entrap specific macromolecules durtrong>introng>g trong>receptortrong>-mediated endocytosis. This gene encodes one of two clathrtrong>introng> light trong>chatrong>introng>trong> protetrong>introng>s which are believed to function as regulatory elements. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. Related pseudogenes have been identified on chromosomes 8 and 12. [provided by RefSeq, May 2010]
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clathrtrong>introng>, heavy trong>chatrong>introng>trong> (Hc)
Clathrtrong>introng> is a major protetrong>introng> component of the cytoplasmic face of trong>introng>tracellular organelles, called coated vesicles and coated pits. These specialized organelles are trong>introng>volved trong>introng> the trong>introng>tracellular trafficktrong>introng>g of trong>receptortrong>s and endocytosis of a variety of macromolecules. The basic subunit of the clathrtrong>introng> coat is composed of three heavy trong>chatrong>introng>trong>s and three light trong>chatrong>introng>trong>s. [provided by RefSeq, Jul 2008]
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clathrtrong>introng>, light trong>chatrong>introng>trong> B
Clathrtrong>introng> is a large, soluble protetrong>introng> composed of heavy and light trong>chatrong>introng>trong>s. It functions as the matrong>introng> structural component of the lattice-type cytoplasmic face of coated pits and vesicles which entrap specific macromolecules durtrong>introng>g trong>receptortrong>-mediated endocytosis. This gene encodes one of two clathrtrong>introng> light trong>chatrong>introng>trong> protetrong>introng>s which are believed to function as regulatory elements. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jul 2008]
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dynetrong>introng>, axonemal, trong>introng>termediate trong>chatrong>introng>trong> 1
This gene encodes a member of the dynetrong>introng> trong>introng>termediate trong>chatrong>introng>trong> family. The encoded protetrong>introng> is part of the dynetrong>introng> complex trong>introng> respiratory cilia. The trong>introng>ner- and outer-arm dynetrong>introng>s, which bridge between the doublet microtubules trong>introng> axonemes, are the force-generattrong>introng>g protetrong>introng>s responsible for the slidtrong>introng>g movement trong>introng> axonemes. The trong>introng>termediate and light trong>chatrong>introng>trong>s, thought to form the base of the dynetrong>introng> arm, help mediate attachment and may also participate trong>introng> regulattrong>introng>g dynetrong>introng> activity. Mutations trong>introng> this gene result trong>introng> abnormal ciliary ultrastructure and function associated with primary ciliary dysktrong>introng>esia and Kartagener syndrome. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jul 2013]
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dynetrong>introng>, axonemal, trong>introng>termediate trong>chatrong>introng>trong> 2
The protetrong>introng> encoded by this gene belongs to the dynetrong>introng> trong>introng>termediate trong>chatrong>introng>trong> family, and is part of the dynetrong>introng> complex of respiratory cilia and sperm flagella. Mutations trong>introng> this gene are associated with primary ciliary dysktrong>introng>esia type 9. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010]
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dynetrong>introng>, light trong>chatrong>introng>trong>, Tctex-type 1 pseudogene
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gamma-glutamyltransferase light trong>chatrong>introng>trong> 2
This gene encodes a protetrong>introng> related to enzymes that cleaves gamma-glutamyl peptide bonds trong>introng> glutathione and other peptides. Unlike similar protetrong>introng>s, the encoded protetrong>introng> contatrong>introng>s only the light trong>chatrong>introng>trong> portion and may not have catalytic activity. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. There are several related family members and related pseudogene for this gene situated trong>introng> the same region of chromosome 22. [provided by RefSeq, Sep 2013]
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myostrong>introng>, light trong>chatrong>introng>trong> 6 pseudogene 2
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myostrong>introng>, light trong>chatrong>introng>trong> 6 pseudogene 1
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myostrong>introng>, light trong>chatrong>introng>trong> 6 pseudogene 4
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myostrong>introng>, light trong>chatrong>introng>trong> 6 pseudogene 5
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microtubule-associated protetrong>introng> 1 light trong>chatrong>introng>trong> 3 pseudogene
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microtubule-associated protetrong>introng> 1 light trong>chatrong>introng>trong> 3 alpha
MAP1A and MAP1B are microtubule-associated protetrong>introng>s which mediate the physical trong>introng>teractions between microtubules and components of the cytoskeleton. MAP1A and MAP1B each consist of a heavy trong>chatrong>introng>trong> subunit and multiple light trong>chatrong>introng>trong> subunits. The protetrong>introng> encoded by this gene is one of the light trong>chatrong>introng>trong> subunits and can associate with either MAP1A or MAP1B. Two transcript variants encodtrong>introng>g different isoforms have been found for this gene. The expression of variant 1 is suppressed trong>introng> many tumor cell ltrong>introng>es, suggesttrong>introng>g that may be trong>introng>volved trong>introng> carctrong>introng>ogenesis. [provided by RefSeq, Feb 2012]
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microtubule-associated protetrong>introng> 1 light trong>chatrong>introng>trong> 3 gamma
Autophagy is a highly regulated bulk degradation process that plays an important role trong>introng> cellular matrong>introng>tenance and development. MAP1LC3C is an ortholog of the yeast autophagosome protetrong>introng> Atg8 (He et al., 2003 [PubMed 12740394]).[supplied by OMIM, Nov 2010]
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gamma-glutamyltransferase light trong>chatrong>introng>trong> 1
This gene encodes a member of the gamma-glutamyl transpeptidase (GGT) family, which are important trong>introng> the metabolism of glutathione. The most ubiquitously expressed human GGT gene, GGT1, encodes a strong>introng>gle transmembrane polypeptide that is post-translationally processed to form a heavy and a light trong>chatrong>introng>trong>. trong>Introng> contrast, the product of this gene only contatrong>introng>s homology to the light trong>chatrong>introng>trong> region, and lacks a transmembrane domatrong>introng>. Multiple alternatively spliced variants, encodtrong>introng>g the same protetrong>introng>, have been identified. [provided by RefSeq, Oct 2008]
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gamma-glutamyltransferase light trong>chatrong>introng>trong> 3
Gamma-glutamyltransferase-1 (GGT1; MIM 612346) is a membrane-bound extracellular enzyme that cleaves gamma-glutamyl peptide bonds trong>introng> glutathione and other peptides and transfers the gamma-glutamyl moiety to acceptors. Autocatalytic cleavage of the GGT1 precursor polypeptide produces a heavy trong>chatrong>introng>trong> and a light trong>chatrong>introng>trong> that associate with each other to form the functional enzyme. Light trong>chatrong>introng>trong>-only GGTs, such as GGTLC3, contatrong>introng> a region correspondtrong>introng>g to the GGT1 light trong>chatrong>introng>trong>, but they lack the membrane-anchortrong>introng>g heavy trong>chatrong>introng>trong> region (Heisterkamp et al., 2008 [PubMed 18357469]).[supplied by OMIM, Oct 2008]
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Ig heavy trong>chatrong>introng>trong> V region 5A-like
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axonemal dynetrong>introng> light trong>chatrong>introng>trong> domatrong>introng> contatrong>introng>trong>introng>g 1
Predicted to be trong>introng>volved trong>introng> manchette assembly. Located trong>introng> cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]
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Ig kappa trong>chatrong>introng>trong> V-I region Hau-like
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Ig kappa trong>chatrong>introng>trong> V-I region Walker-like
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myostrong>introng>, heavy trong>chatrong>introng>trong> 10, non-muscle
This gene encodes a member of the myostrong>introng> superfamily. The protetrong>introng> represents a conventional non-muscle myostrong>introng>; it should not be confused with the unconventional myostrong>introng>-10 (MYO10). Myostrong>introng>s are acttrong>introng>-dependent motor protetrong>introng>s with diverse functions trong>introng>cludtrong>introng>g regulation of cytoktrong>introng>esis, cell motility, and cell polarity. Mutations trong>introng> this gene have been associated with May-Heggltrong>introng> anomaly and developmental defects trong>introng> bratrong>introng> and heart. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
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myostrong>introng>, heavy trong>chatrong>introng>trong> 11, smooth muscle
The protetrong>introng> encoded by this gene is a smooth muscle myostrong>introng> belongtrong>introng>g to the myostrong>introng> heavy trong>chatrong>introng>trong> family. The gene product is a subunit of a hexameric protetrong>introng> that consists of two heavy trong>chatrong>introng>trong> subunits and two pairs of non-identical light trong>chatrong>introng>trong> subunits. It functions as a major contractile protetrong>introng>, converttrong>introng>g chemical energy trong>introng>to mechanical energy through the hydrolysis of ATP. A chromosomal rearrangement trong>introng>volvtrong>introng>g this gene is associated with acute myeloid leukemia of the M4Eo subtype. Mutations trong>introng> this gene are associated with visceral myopathy, megacystis-microcolon-trong>introng>testtrong>introng>al hypoperistalsis syndrome 2, and familial thoracic aortic aneurysm 4. [provided by RefSeq, May 2022]
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myostrong>introng>, heavy trong>chatrong>introng>trong> 13, skeletal muscle
Predicted to enable acttrong>introng> filament btrong>introng>dtrong>introng>g activity and microfilament motor activity. Predicted to be trong>introng>volved trong>introng> muscle contraction. Predicted to act upstream of or withtrong>introng> cellular response to starvation. Located trong>introng> extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]
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myostrong>introng>, heavy trong>chatrong>introng>trong> 14, non-muscle
This gene encodes a member of the myostrong>introng> superfamily. The protetrong>introng> represents a conventional non-muscle myostrong>introng>; it should not be confused with the unconventional myostrong>introng>-14 (MYO14). Myostrong>introng>s are acttrong>introng>-dependent motor protetrong>introng>s with diverse functions trong>introng>cludtrong>introng>g regulation of cytoktrong>introng>esis, cell motility, and cell polarity. Mutations trong>introng> this gene result trong>introng> one form of autosomal domtrong>introng>ant heartrong>introng>g impairment. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
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myostrong>introng>, heavy trong>chatrong>introng>trong> 15
Predicted to enable acttrong>introng> filament btrong>introng>dtrong>introng>g activity and microfilament motor activity. Predicted to be trong>introng>volved trong>introng> extraocular skeletal muscle development. Located trong>introng> cytosol and trong>introng>tracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Mar 2025]
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myostrong>introng>, heavy trong>chatrong>introng>trong> 16 pseudogene
The protetrong>introng> codtrong>introng>g status of the MYH16 gene is uncertatrong>introng>. trong>Introng> nonhuman primates, this gene encodes a sarcomeric myostrong>introng> heavy trong>chatrong>introng>trong> expressed trong>introng> masticatory muscles, but has been hypothesized to be trong>introng>activated trong>introng> humans. Stedman et al. (2004) [PubMed 15042088] suggest that the decrement trong>introng> masticatory muscle size caused by the trong>introng>activation of MYH16 removed an evolutionary constratrong>introng>t on encephalization trong>introng> early man. However, there is peptide support suggesttrong>introng>g that a shorter protetrong>introng> contatrong>introng>trong>introng>g only a myostrong>introng> tail domatrong>introng> is expressed trong>introng> human. [provided by RefSeq, Jul 2024]
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myostrong>introng>, light trong>chatrong>introng>trong> 12B, regulatory pseudogene
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collagen alpha-1(I) trong>chatrong>introng>trong>-like
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short trong>chatrong>introng>trong> dehydrogenase/reductase family 42E, member 1 pseudogene
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Ig kappa trong>chatrong>introng>trong> V-I region HK102-like
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collagen alpha-2(V) trong>chatrong>introng>trong>-like
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branched trong>chatrong>introng>trong> keto acid dehydrogenase E1, alpha polypeptide
The branched-trong>chatrong>introng>trong> alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an trong>introng>nter mitochondrial enzyme complex that catalyzes the second major step trong>introng> the catabolism of the branched-trong>chatrong>introng>trong> amtrong>introng>o acids leuctrong>introng>e, isoleuctrong>introng>e, and valtrong>introng>e. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-trong>betatrong>2) branched-trong>chatrong>introng>trong> alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations trong>introng> this gene result trong>introng> maple syrup urtrong>introng>e disease, type IA. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
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clathrtrong>introng>, light trong>chatrong>introng>trong> A pseudogene
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dynetrong>introng>, axonemal, light trong>chatrong>introng>trong> 4
This gene encodes an axonemal dynetrong>introng> light trong>chatrong>introng>trong> which functions as a component of the outer dynetrong>introng> arms complex. This complex acts as the molecular motor that provides the force to move cilia trong>introng> an ATP-dependent manner. The encoded protetrong>introng> is expressed trong>introng> tissues with motile cilia or flagella and may be trong>introng>volved trong>introng> the movement of sperm flagella. [provided by RefSeq, Dec 2014]
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dynetrong>introng>, axonemal, light trong>chatrong>introng>trong> 1
This gene encodes an axonemal dynetrong>introng> light trong>chatrong>introng>trong> which functions as a component of the outer dynetrong>introng> arms complex. This complex acts as the molecular motor that provides the force to move cilia trong>introng> an ATP-dependent manner. The encoded protetrong>introng> is expressed trong>introng> tissues with motile cilia or flagella and may be trong>introng>volved trong>introng> the movement of sperm flagella. Alternate splictrong>introng>g results trong>introng> multiple transcript variants.[provided by RefSeq, Jan 2011]
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collagen alpha-2(IV) trong>chatrong>introng>trong>-like
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myostrong>introng>, light trong>chatrong>introng>trong> 12B pseudogene 2
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myostrong>introng>, light trong>chatrong>introng>trong> 12B pseudogene 1
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dynetrong>introng>, light trong>chatrong>introng>trong>, roadblock-type 1 pseudogene
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dynetrong>introng>, light trong>chatrong>introng>trong>, roadblock-type 1 pseudogene
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collagen alpha-2(IV) trong>chatrong>introng>trong>-like
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collagen alpha-1(X) trong>chatrong>introng>trong>-like
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short trong>chatrong>introng>trong> dehydrogenase/reductase family 16C, member 5
This gene encodes a member of the short-trong>chatrong>introng>trong> alcohol dehydrogenase/reductase superfamily of protetrong>introng>s and is trong>introng>volved trong>introng> the oxidation of rettrong>introng>ol to rettrong>introng>aldehyde. The encoded protetrong>introng> is associated with the endoplasmic reticulum and is predicted to contatrong>introng> three transmembrane helices, suggesttrong>introng>g that it is an trong>introng>tegral membrane protetrong>introng>. It recognizes all-trans-rettrong>introng>ol and all-trans-rettrong>introng>aldehyde as substrates and exhibits a strong preference for NAD(+)/NADH as cofactors. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Dec 2015]
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collagen alpha-1(II) trong>chatrong>introng>trong>-like
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dynetrong>introng>, light trong>chatrong>introng>trong>, roadblock-type 2
Predicted to enable dynetrong>introng> trong>introng>termediate trong>chatrong>introng>trong> btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> microtubule-based movement. Predicted to be located trong>introng> ciliary tip. Predicted to be part of cytoplasmic dynetrong>introng> complex. Predicted to be active trong>introng> centrosome and cytoplasm. Biomarker of hepatocellular carctrong>introng>oma. [provided by Alliance of Genome Resources, Mar 2025]
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dynetrong>introng>, light trong>chatrong>introng>trong>, roadblock-type 1
This gene is a member of the roadblock dynetrong>introng> light trong>chatrong>introng>trong> family. The encoded cytoplasmic protetrong>introng> is capable of btrong>introng>dtrong>introng>g trong>introng>termediate trong>chatrong>introng>trong> protetrong>introng>s, trong>introng>teracts with transformtrong>introng>g growth factor-trong>betatrong>, and has been implicated trong>introng> the regulation of acttrong>introng> modulattrong>introng>g protetrong>introng>s. Upregulation of this gene has been associated with hepatocellular carctrong>introng>omas, suggesttrong>introng>g that this gene may be trong>introng>volved trong>introng> tumor progression. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. Pseudogenes of this gene have been deftrong>introng>ed on chromosomes 12 and 18. [provided by RefSeq, Aug 2013]
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collagen alpha-1(XIII) trong>chatrong>introng>trong>
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complement component 1, q subcomponent, C trong>chatrong>introng>trong>
This gene encodes the C-trong>chatrong>introng>trong> polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q is composed of 18 polypeptide trong>chatrong>introng>trong>s which trong>introng>clude 6 A-trong>chatrong>introng>trong>s, 6 B-trong>chatrong>introng>trong>s, and 6 C-trong>chatrong>introng>trong>s. Each trong>chatrong>introng>trong> contatrong>introng>s an N-termtrong>introng>al collagen-like region and a C-termtrong>introng>al C1q globular domatrong>introng>. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. [provided by RefSeq, Dec 2016]
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complement component 1, q subcomponent, A trong>chatrong>introng>trong>
This gene encodes the A-trong>chatrong>introng>trong> polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide trong>chatrong>introng>trong>s which trong>introng>clude 6 A-trong>chatrong>introng>trong>s, 6 B-trong>chatrong>introng>trong>s, and 6 C-trong>chatrong>introng>trong>s. Each trong>chatrong>introng>trong> contatrong>introng>s an N-termtrong>introng>al collagen-like region and a C-termtrong>introng>al C1q globular domatrong>introng>. Alternate splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Nov 2016]
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myostrong>introng>, light trong>chatrong>introng>trong> 10, regulatory
Predicted to enable calcium ion btrong>introng>dtrong>introng>g activity. Located trong>introng> mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]
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collagen alpha-2(IV) trong>chatrong>introng>trong>-like
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collagen alpha-1(III) trong>chatrong>introng>trong>-like
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HLA class I histocompatibility antigen, A-69 alpha trong>chatrong>introng>trong>-like
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acyl-CoA synthetase long-trong>chatrong>introng>trong> family member 3
The protetrong>introng> encoded by this gene is an isozyme of the long-trong>chatrong>introng>trong> fatty-acid-coenzyme A ligase family. Although differtrong>introng>g trong>introng> substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-trong>chatrong>introng>trong> fatty acids trong>introng>to fatty acyl-CoA esters, and thereby play a key role trong>introng> lipid biosynthesis and fatty acid degradation. This isozyme is highly expressed trong>introng> bratrong>introng>, and preferentially utilizes myristate, arachidonate, and eicosapentaenoate as substrates. The amtrong>introng>o acid sequence of this isozyme is 92% identical to that of rat homolog. Two transcript variants encodtrong>introng>g the same protetrong>introng> have been found for this gene. [provided by RefSeq, Jul 2008]
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acyl-CoA synthetase long-trong>chatrong>introng>trong> family member 1
The protetrong>introng> encoded by this gene is an isozyme of the long-trong>chatrong>introng>trong> fatty-acid-coenzyme A ligase family. Although differtrong>introng>g trong>introng> substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-trong>chatrong>introng>trong> fatty acids trong>introng>to fatty acyl-CoA esters, and thereby play a key role trong>introng> lipid biosynthesis and fatty acid degradation. Several transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
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acyl-CoA synthetase long-trong>chatrong>introng>trong> family member 6
The protetrong>introng> encoded by this gene catalyzes the formation of acyl-CoA from fatty acids, ATP, and CoA, ustrong>introng>g magnesium as a cofactor. The encoded protetrong>introng> plays a major role trong>introng> fatty acid metabolism trong>introng> the bratrong>introng>. Translocations with the ETV6 gene are causes of myelodysplastic syndrome with basophilia, acute myelogenous leukemia with eostrong>introng>ophilia, and acute eostrong>introng>ophilic leukemia. Several transcript variants encodtrong>introng>g different isoforms have been found for this gene.[provided by RefSeq, Apr 2011]
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acyl-CoA synthetase long-trong>chatrong>introng>trong> family member 4
The protetrong>introng> encoded by this gene is an isozyme of the long-trong>chatrong>introng>trong> fatty-acid-coenzyme A ligase family. Although differtrong>introng>g trong>introng> substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-trong>chatrong>introng>trong> fatty acids trong>introng>to fatty acyl-CoA esters, and thereby play a key role trong>introng> lipid biosynthesis and fatty acid degradation. This isozyme preferentially utilizes arachidonate as substrate. The absence of this enzyme may contribute to the cognitive disability or Alport syndrome. Alternative splictrong>introng>g of this gene generates multiple transcript variants. [provided by RefSeq, Jan 2016]
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acyl-CoA synthetase long-trong>chatrong>introng>trong> family member 5
The protetrong>introng> encoded by this gene is an isozyme of the long-trong>chatrong>introng>trong> fatty-acid-coenzyme A ligase family. Although differtrong>introng>g trong>introng> substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-trong>chatrong>introng>trong> fatty acids trong>introng>to fatty acyl-CoA esters, and thereby play a key role trong>introng> lipid biosynthesis and fatty acid degradation. This isozyme is highly expressed trong>introng> uterus and spleen, and trong>introng> trace amounts trong>introng> normal bratrong>introng>, but has markedly trong>introng>creased levels trong>introng> malignant gliomas. This gene functions trong>introng> mediattrong>introng>g fatty acid-trong>introng>duced glioma cell growth. Three transcript variants encodtrong>introng>g two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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collagen alpha-1(I) trong>chatrong>introng>trong>-like
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myostrong>introng> heavy trong>chatrong>introng>trong> IB-like
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myostrong>introng>, heavy trong>chatrong>introng>trong> 2, skeletal muscle, adult
Myostrong>introng>s are acttrong>introng>-based motor protetrong>introng>s that function trong>introng> the generation of mechanical force trong>introng> eukaryotic cells. Muscle myostrong>introng>s are heterohexamers composed of 2 myostrong>introng> heavy trong>chatrong>introng>trong>s and 2 pairs of nonidentical myostrong>introng> light trong>chatrong>introng>trong>s. This gene encodes a member of the class II or conventional myostrong>introng> heavy trong>chatrong>introng>trong>s, and functions trong>introng> skeletal muscle contraction. This gene is found trong>introng> a cluster of myostrong>introng> heavy trong>chatrong>introng>trong> genes on chromosome 17. A mutation trong>introng> this gene results trong>introng> trong>introng>clusion body myopathy-3. Multiple alternatively spliced variants, encodtrong>introng>g the same protetrong>introng>, have been identified. [provided by RefSeq, Sep 2009]
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myostrong>introng>, heavy trong>chatrong>introng>trong> 3, skeletal muscle, embryonic
Myostrong>introng> is a major contractile protetrong>introng> which converts chemical energy trong>introng>to mechanical energy through the hydrolysis of ATP. Myostrong>introng> is a hexameric protetrong>introng> composed of a pair of myostrong>introng> heavy trong>chatrong>introng>trong>s (MYH) and two pairs of nonidentical light trong>chatrong>introng>trong>s. This gene is a member of the MYH family and encodes a protetrong>introng> with an IQ domatrong>introng> and a myostrong>introng> head-like domatrong>introng>. Mutations trong>introng> this gene have been associated with two congenital contracture (arthrogryposis) syndromes, Freeman-Sheldon syndrome and Sheldon-Hall syndrome. [provided by RefSeq, Jul 2008]
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myostrong>introng>, heavy trong>chatrong>introng>trong> 1, skeletal muscle, adult
Myostrong>introng> is a major contractile protetrong>introng> which converts chemical energy trong>introng>to mechanical energy through the hydrolysis of ATP. Myostrong>introng> is a hexameric protetrong>introng> composed of a pair of myostrong>introng> heavy trong>chatrong>introng>trong>s (MYH) and two pairs of nonidentical light trong>chatrong>introng>trong>s. Myostrong>introng> heavy trong>chatrong>introng>trong>s are encoded by a multigene family. trong>Introng> mammals at least 10 different myostrong>introng> heavy trong>chatrong>introng>trong> (MYH) isoforms have been described from striated, smooth, and nonmuscle cells. These isoforms show expression that is spatially and temporally regulated durtrong>introng>g development. [provided by RefSeq, Jul 2008]
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myostrong>introng>, heavy trong>chatrong>introng>trong> 6, cardiac muscle, alpha
Cardiac muscle myostrong>introng> is a hexamer consisttrong>introng>g of two heavy trong>chatrong>introng>trong> subunits, two light trong>chatrong>introng>trong> subunits, and two regulatory subunits. This gene encodes the alpha heavy trong>chatrong>introng>trong> subunit of cardiac myostrong>introng>. The gene is located approximately 4kb downstream of the gene encodtrong>introng>g the trong>betatrong> heavy trong>chatrong>introng>trong> subunit of cardiac myostrong>introng>. Mutations trong>introng> this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Feb 2017]
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myostrong>introng>, heavy trong>chatrong>introng>trong> 4, skeletal muscle
Enables double-stranded RNA btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> muscle contraction. Located trong>introng> myofibril. [provided by Alliance of Genome Resources, Mar 2025]
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myostrong>introng>, heavy trong>chatrong>introng>trong> 8, skeletal muscle, pertrong>introng>atal
Myostrong>introng>s are acttrong>introng>-based motor protetrong>introng>s that function trong>introng> the generation of mechanical force trong>introng> eukaryotic cells. Muscle myostrong>introng>s are heterohexamers composed of 2 myostrong>introng> heavy trong>chatrong>introng>trong>s and 2 pairs of nonidentical myostrong>introng> light trong>chatrong>introng>trong>s. This gene encodes a member of the class II or conventional myostrong>introng> heavy trong>chatrong>introng>trong>s, and functions trong>introng> skeletal muscle contraction. This gene is predomtrong>introng>antly expressed trong>introng> fetal skeletal muscle. This gene is found trong>introng> a cluster of myostrong>introng> heavy trong>chatrong>introng>trong> genes on chromosome 17. A mutation trong>introng> this gene results trong>introng> trismus-pseudocamptodactyly syndrome. [provided by RefSeq, Sep 2009]
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myostrong>introng>, heavy trong>chatrong>introng>trong> 9, non-muscle
This gene encodes a conventional non-muscle myostrong>introng>; this protetrong>introng> should not be confused with the unconventional myostrong>introng>-9a or 9b (MYO9A or MYO9B). The encoded protetrong>introng> is a myostrong>introng> IIA heavy trong>chatrong>introng>trong> that contatrong>introng>s an IQ domatrong>introng> and a myostrong>introng> head-like domatrong>introng> which is trong>introng>volved trong>introng> several important functions, trong>introng>cludtrong>introng>g cytoktrong>introng>esis, cell motility and matrong>introng>tenance of cell shape. Defects trong>introng> this gene have been associated with non-syndromic sensortrong>introng>eural deafness autosomal domtrong>introng>ant type 17, Epstetrong>introng> syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensortrong>introng>eural deafness. [provided by RefSeq, Dec 2011]
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collagen alpha-1(III) trong>chatrong>introng>trong>-like
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tubultrong>introng> alpha-1C trong>chatrong>introng>trong>-like
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short trong>chatrong>introng>trong> dehydrogenase/reductase family 39U, member 1
This gene encodes a member of the short-trong>chatrong>introng>trong> dehydrogenases/reductases (SDR) superfamily, which trong>introng>cludes both classical and extended types. The encoded protetrong>introng> represents an extended type, with similarity to epimerases. Alternatively spliced transcript variants that encode different protetrong>introng> isoforms have been described. [provided by RefSeq, Mar 2014]
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myostrong>introng> VA (heavy trong>chatrong>introng>trong> 12, myoxtrong>introng>)
This gene is one of three myostrong>introng> V heavy-trong>chatrong>introng>trong> genes, belongtrong>introng>g to the myostrong>introng> gene superfamily. Myostrong>introng> V is a class of acttrong>introng>-based motor protetrong>introng>s trong>introng>volved trong>introng> cytoplasmic vesicle transport and anchorage, sptrong>introng>dle-pole alignment and mRNA translocation. The protetrong>introng> encoded by this gene is abundant trong>introng> melanocytes and nerve cells. Mutations trong>introng> this gene cause Griscelli syndrome type-1 (GS1) and neuroectodermal melanolysosomal disease, or Elejalde disease. [provided by RefSeq, Sep 2023]
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hydroxyacid oxidase 2 (long trong>chatrong>introng>trong>)
This gene is one of three related genes that have 2-hydroxyacid oxidase activity. The encoded protetrong>introng> localizes to the peroxisome has the highest activity toward the substrate 2-hydroxypalmitate. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jul 2014]
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putative short-trong>chatrong>introng>trong> dehydrogenase/reductase family 42E member 2
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collagen alpha-1(I) trong>chatrong>introng>trong>-like
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solute carrier family 7 (neutral amtrong>introng>o acid transporter light trong>chatrong>introng>trong>, asc system), member 10
SLC7A10, trong>introng> association with 4F2HC (SLC3A2; MIM 158070), mediates high-afftrong>introng>ity transport of D-sertrong>introng>e and several other neutral amtrong>introng>o acids (Nakauchi et al., 2000 [PubMed 10863037]).[supplied by OMIM, Mar 2008]
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solute carrier family 7 (anionic amtrong>introng>o acid transporter light trong>chatrong>introng>trong>, xc- system), member 11
This gene encodes a member of a heteromeric, sodium-trong>introng>dependent, anionic amtrong>introng>o acid transport system that is highly specific for cystetrong>introng>e and glutamate. trong>Introng> this system, designated Xc(-), the anionic form of cystetrong>introng>e is transported trong>introng> exchange for glutamate. This protetrong>introng> has been identified as the predomtrong>introng>ant mediator of Kaposi sarcoma-associated herpesvirus fusion and entry permissiveness trong>introng>to cells. Also, trong>introng>creased expression of this gene trong>introng> primary gliomas (compared to normal bratrong>introng> tissue) was associated with trong>introng>creased glutamate secretion via the XCT channels, resulttrong>introng>g trong>introng> neuronal cell death. [provided by RefSeq, Sep 2011]
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myostrong>introng> light trong>chatrong>introng>trong> 11
Predicted to enable calcium ion btrong>introng>dtrong>introng>g activity. Predicted to be a structural constituent of muscle. trong>Introng>volved trong>introng> muscle contraction. Located trong>introng> lysosomal membrane. Implicated trong>introng> distal arthrogryposis type 1C. [provided by Alliance of Genome Resources, Mar 2025]
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dynetrong>introng> axonemal trong>introng>termediate trong>chatrong>introng>trong> 7
Predicted to enable trong>betatrong>-tubultrong>introng> btrong>introng>dtrong>introng>g activity and microtubule btrong>introng>dtrong>introng>g activity. Predicted to be located trong>introng> cilium and microtubule cytoskeleton. Predicted to be part of axonemal dynetrong>introng> complex. Predicted to be active trong>introng> axoneme and cytoplasmic microtubule. [provided by Alliance of Genome Resources, Mar 2025]
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dynetrong>introng> 2 trong>introng>termediate trong>chatrong>introng>trong> 1
This gene encodes a member of the WD repeat protetrong>introng> family. WD repeats are mtrong>introng>imally conserved regions of approximately 40 amtrong>introng>o acids typically bracketed by gly-his and trp-asp (GH-WD) and may facilitate the formation of heterotrimeric or multiprotetrong>introng> complexes. Members of this family are trong>introng>volved trong>introng> a variety of cellular processes trong>introng>cludtrong>introng>g cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protetrong>introng> contatrong>introng>s four WD repeats and may play a role trong>introng> the formation of cilia. Mutations trong>introng> this gene have been associated with short-rib polydactyly and Jeune syndromes. [provided by RefSeq, Mar 2014]
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dynetrong>introng> light trong>chatrong>introng>trong> Tctex-type 2B
Dynetrong>introng>s are a group of microtubule-activated ATPases that function as molecular motors. They are divided trong>introng>to two subgroups of axonemal and cytoplasmic dynetrong>introng>s. The cytoplasmic dynetrong>introng>s function trong>introng> trong>introng>tracellular motility, trong>introng>cludtrong>introng>g retrograde axonal transport, protetrong>introng> sorttrong>introng>g, organelle movement, and sptrong>introng>dle dynamics. Molecules of conventional cytoplasmic dynetrong>introng> are comprised of 2 heavy trong>chatrong>introng>trong> polypeptides and a number of trong>introng>termediate and light trong>chatrong>introng>trong>s. This gene encodes a subunit of the human cytoplasmic dynetrong>introng>-2 complex. Mutations trong>introng> this gene are associated with short-rib thoracic dysplasia 17 with or without polydactyly. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, May 2017]
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dynetrong>introng> axonemal trong>introng>termediate trong>chatrong>introng>trong> 4
Predicted to enable dynetrong>introng> heavy trong>chatrong>introng>trong> btrong>introng>dtrong>introng>g activity and dynetrong>introng> light trong>chatrong>introng>trong> btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> axonemal dynetrong>introng> complex assembly and cilium movement. Predicted to act upstream of or withtrong>introng> hematopoietic progenitor cell differentiation. Predicted to be located trong>introng> axoneme; dynetrong>introng> axonemal particle; and motile cilium. Predicted to be part of axonemal dynetrong>introng> complex. [provided by Alliance of Genome Resources, Mar 2025]
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dynetrong>introng> light trong>chatrong>introng>trong> Tctex-type 4
Enables protetrong>introng> phosphatase 1 btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> microtubule-based movement. Located trong>introng> several cellular components, trong>introng>cludtrong>introng>g acrosomal vesicle; cytoskeleton; and sperm flagellum. [provided by Alliance of Genome Resources, Mar 2025]
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dynetrong>introng> 2 trong>introng>termediate trong>chatrong>introng>trong> 2
This gene encodes a member of the WD repeat protetrong>introng> family. WD repeats are mtrong>introng>imally conserved regions of approximately 40 amtrong>introng>o acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotetrong>introng> complexes. Members of this family are trong>introng>volved trong>introng> a variety of cellular processes, trong>introng>cludtrong>introng>g cell cycle progression, signal transduction, apoptosis, and gene regulation. Defects trong>introng> this gene are a cause of short-rib thoracic dysplasia 11 with or without polydactyly. [provided by RefSeq, Mar 2014]
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dynetrong>introng> axonemal trong>introng>termediate trong>chatrong>introng>trong> 3
Enables Arp2/3 complex btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> negative regulation of Arp2/3 complex-mediated acttrong>introng> nucleation and negative regulation of cell migration. Located trong>introng> cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]
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dynetrong>introng> light trong>chatrong>introng>trong> Tctex-type 2
Predicted to enable dynetrong>introng> trong>introng>termediate trong>chatrong>introng>trong> btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> microtubule-based movement. Predicted to be located trong>introng> cytosol and sperm flagellum. Predicted to be part of cytoplasmic dynetrong>introng> complex. Predicted to be active trong>introng> cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]
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dynetrong>introng> light trong>chatrong>introng>trong> Tctex-type family member 5
Predicted to enable dynetrong>introng> trong>introng>termediate trong>chatrong>introng>trong> btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> microtubule-based movement. Predicted to be part of cytoplasmic dynetrong>introng> complex. Predicted to be active trong>introng> cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]
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collagen alpha-5(IV) trong>chatrong>introng>trong>-like
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collagen alpha-1(III) trong>chatrong>introng>trong>-like
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thyroid hormone trong>receptortrong>, trong>betatrong>
The protetrong>introng> encoded by this gene is a nuclear hormone trong>receptortrong> for triiodothyrontrong>introng>e. It is one of the several trong>receptortrong>s for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies trong>introng> mice suggest that the different trong>receptortrong>s, while havtrong>introng>g certatrong>introng> extent of redundancy, may mediate different functions of thyroid hormone. Mutations trong>introng> this gene are known to be a cause of generalized thyroid hormone resistance (GTHR), a syndrome characterized by goiter and high levels of circulattrong>introng>g thyroid hormone (T3-T4), with normal or slightly elevated thyroid stimulattrong>introng>g hormone (TSH). Several alternatively spliced transcript variants encodtrong>introng>g the same protetrong>introng> have been observed for this gene. [provided by RefSeq, Jul 2008]
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glyctrong>introng>e trong>receptortrong>, trong>betatrong>
This gene encodes the trong>betatrong> subunit of the glyctrong>introng>e trong>receptortrong>, which is a pentamer composed of alpha and trong>betatrong> subunits. The trong>receptortrong> functions as a neurotransmitter-gated ion channel, which produces hyperpolarization via trong>introng>creased chloride conductance due to the btrong>introng>dtrong>introng>g of glyctrong>introng>e to the trong>receptortrong>. Mutations trong>introng> this gene cause startle disease, also known as hereditary hyperekplexia or congenital stiff-person syndrome, a disease characterized by muscular rigidity. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Oct 2009]
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trong>introng>tegrtrong>introng>, trong>betatrong> 2 (complement component 3 trong>receptortrong> 3 and 4 subunit)
This gene encodes an trong>introng>tegrtrong>introng> trong>betatrong> trong>chatrong>introng>trong>, which combtrong>introng>es with multiple different alpha trong>chatrong>introng>trong>s to form different trong>introng>tegrtrong>introng> heterodimers. trong>Introng>tegrtrong>introng>s are trong>introng>tegral cell-surface protetrong>introng>s that participate trong>introng> cell adhesion as well as cell-surface mediated signalltrong>introng>g. The encoded protetrong>introng> plays an important role trong>introng> immune response and defects trong>introng> this gene cause leukocyte adhesion deficiency. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Dec 2014]
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trong>introng>terleuktrong>introng> 20 trong>receptortrong> trong>betatrong>
IL20RB and IL20RA (MIM 605620) form a heterodimeric trong>receptortrong> for trong>introng>terleuktrong>introng>-20 (IL20; MIM 605619) (Blumberg et al., 2001 [PubMed 11163236]).[supplied by OMIM, Feb 2009]
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rettrong>introng>oic acid trong>receptortrong>, trong>betatrong>
This gene encodes rettrong>introng>oic acid trong>receptortrong> trong>betatrong>, a member of the thyroid-steroid hormone trong>receptortrong> superfamily of nuclear transcriptional regulators. This trong>receptortrong> localizes to the cytoplasm and to subnuclear compartments. It btrong>introng>ds rettrong>introng>oic acid, the biologically active form of vitamtrong>introng> A which mediates cellular signalltrong>introng>g trong>introng> embryonic morphogenesis, cell growth and differentiation. It is thought that this protetrong>introng> limits growth of many cell types by regulattrong>introng>g gene expression. The gene was first identified trong>introng> a hepatocellular carctrong>introng>oma where it flanks a hepatitis B virus trong>introng>tegration site. Alternate promoter usage and differential splictrong>introng>g result trong>introng> multiple transcript variants. [provided by RefSeq, Mar 2014]
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gamma-amtrong>introng>obutyric acid (GABA) A trong>receptortrong>, trong>betatrong> 1
The gamma-amtrong>introng>obutyric acid (GABA) A trong>receptortrong> is a multisubunit chloride channel that mediates the fastest trong>introng>hibitory synaptic transmission trong>introng> the central nervous system. This gene encodes GABA A trong>receptortrong>, trong>betatrong> 1 subunit. It is mapped to chromosome 4p12 trong>introng> a cluster comprised of genes encodtrong>introng>g alpha 4, alpha 2 and gamma 1 subunits of the GABA A trong>receptortrong>. Alteration of this gene is implicated trong>introng> the pathogenetics of schizophrenia. [provided by RefSeq, Jul 2008]
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gamma-amtrong>introng>obutyric acid (GABA) A trong>receptortrong>, trong>betatrong> 3
This gene encodes a member of the ligand-gated ionic channel family. The encoded protetrong>introng> is one the subunits of a multi-subunit chloride channel that serves as the trong>receptortrong> for gamma-amtrong>introng>obutyric acid, a major trong>introng>hibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 trong>introng> a cluster with two other genes encodtrong>introng>g related subunits of the family. This gene may be associated with the pathogenesis of several disorders trong>introng>cludtrong>introng>g Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encodtrong>introng>g disttrong>introng>ct isoforms have been described. [provided by RefSeq, Jul 2013]
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colony stimulattrong>introng>g factor 2 trong>receptortrong>, trong>betatrong>, low-afftrong>introng>ity (granulocyte-macrophage)
The protetrong>introng> encoded by this gene is the common trong>betatrong> trong>chatrong>introng>trong> of the high afftrong>introng>ity trong>receptortrong> for IL-3, IL-5 and CSF. Defects trong>introng> this gene have been reported to be associated with protetrong>introng> alveolar protetrong>introng>osis (PAP). [provided by RefSeq, Jul 2008]
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adrenergic, trong>betatrong>, trong>receptortrong> ktrong>introng>ase 1
This gene encodes a member of the G protetrong>introng>-coupled trong>receptortrong> ktrong>introng>ase family of protetrong>introng>s. The encoded protetrong>introng> phosphorylates the trong>betatrong>-adrenergic trong>receptortrong> as well as a wide range of other substrates trong>introng>cludtrong>introng>g non-GPCR cell surface trong>receptortrong>s, and cytoskeletal, mitochondrial, and transcription factor protetrong>introng>s. Data from rodent models supports a role for this gene trong>introng> embryonic development, heart function and metabolism. Elevated expression of this gene has been observed trong>introng> human patients with heart failure and Alzheimer's disease. [provided by RefSeq, Sep 2017]
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adrenergic, trong>betatrong>, trong>receptortrong> ktrong>introng>ase 2
The trong>betatrong>-adrenergic trong>receptortrong> ktrong>introng>ase specifically phosphorylates the agonist-occupied form of the trong>betatrong>-adrenergic and related G protetrong>introng>-coupled trong>receptortrong>s. Overall, the trong>betatrong> adrenergic trong>receptortrong> ktrong>introng>ase 2 has 85% amtrong>introng>o acid similarity with trong>betatrong> adrenergic trong>receptortrong> ktrong>introng>ase 1, with the protetrong>introng> ktrong>introng>ase catalytic domatrong>introng> havtrong>introng>g 95% similarity. These data suggest the existence of a family of trong>receptortrong> ktrong>introng>ases which may serve broadly to regulate trong>receptortrong> function. [provided by RefSeq, Jul 2008]
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platelet-derived growth factor trong>receptortrong>, trong>betatrong> polypeptide
The protetrong>introng> encoded by this gene is a cell surface tyrostrong>introng>e ktrong>introng>ase trong>receptortrong> for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origtrong>introng>. The identity of the growth factor bound to a trong>receptortrong> monomer determtrong>introng>es whether the functional trong>receptortrong> is a homodimer (PDGFB or PDGFD) or a heterodimer (PDGFA and PDGFB). This gene is essential for normal development of the cardiovascular system and aids trong>introng> rearrangement of the acttrong>introng> cytoskeleton. This gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulattrong>introng>g factor and macrophage-colony stimulattrong>introng>g factor trong>receptortrong>; all three genes may be implicated trong>introng> the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses this gene to that of the ETV6 gene, results trong>introng> chronic myeloproliferative disorder with eostrong>introng>ophilia. [provided by RefSeq, Aug 2017]
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trong>introng>terleuktrong>introng> 10 trong>receptortrong>, trong>betatrong>
The protetrong>introng> encoded by this gene belongs to the cytoktrong>introng>e trong>receptortrong> family. It is an accessory trong>chatrong>introng>trong> essential for the active trong>introng>terleuktrong>introng> 10 trong>receptortrong> complex. Coexpression of this and IL10RA protetrong>introng>s has been shown to be required for IL10-trong>introng>duced signal transduction. This gene and three other trong>introng>terferon trong>receptortrong> genes, IFAR2, IFNAR1, and IFNGR2, form a class II cytoktrong>introng>e trong>receptortrong> gene cluster located trong>introng> a small region on chromosome 21. [provided by RefSeq, Jul 2008]
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transformtrong>introng>g growth factor, trong>betatrong> trong>receptortrong> 1 pseudogene
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lymphotoxtrong>introng> trong>betatrong> trong>receptortrong> (TNFR superfamily, member 3)
This gene encodes a member of the tumor necrosis factor trong>receptortrong> superfamily. The major ligands of this trong>receptortrong> trong>introng>clude lymphotoxtrong>introng> alpha/trong>betatrong> and tumor necrosis factor ligand superfamily member 14. The encoded protetrong>introng> plays a role trong>introng> signalltrong>introng>g durtrong>introng>g the development of lymphoid and other organs, lipid metabolism, immune response, and programmed cell death. Activity of this trong>receptortrong> has also been ltrong>introng>ked to carctrong>introng>ogenesis. Alternatively spliced transcript variants encodtrong>introng>g multiple isoforms have been observed. [provided by RefSeq, Aug 2012]
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rettrong>introng>oid X trong>receptortrong>, trong>betatrong>
This gene encodes a member of the rettrong>introng>oid X trong>receptortrong> (RXR) family of nuclear trong>receptortrong>s which are trong>introng>volved trong>introng> mediattrong>introng>g the effects of rettrong>introng>oic acid (RA). The encoded protetrong>introng> forms homodimers with the rettrong>introng>oic acid, thyroid hormone, and vitamtrong>introng> D trong>receptortrong>s, trong>introng>creastrong>introng>g both DNA btrong>introng>dtrong>introng>g and transcriptional function on their respective response elements. This gene lies withtrong>introng> the major histocompatibility complex (MHC) class II region on chromosome 6. Alternatively spliced transcript variants encodtrong>introng>g multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
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choltrong>introng>ergic trong>receptortrong>, nicottrong>introng>ic, trong>betatrong> 1 (muscle)
The muscle acetylcholtrong>introng>e trong>receptortrong> is composed of five subunits: two alpha subunits and one trong>betatrong>, one gamma, and one delta subunit. This gene encodes the trong>betatrong> subunit of the acetylcholtrong>introng>e trong>receptortrong>. The acetylcholtrong>introng>e trong>receptortrong> changes conformation upon acetylcholtrong>introng>e btrong>introng>dtrong>introng>g leadtrong>introng>g to the opentrong>introng>g of an ion-conducttrong>introng>g channel across the plasma membrane. Mutations trong>introng> this gene are associated with slow-channel congenital myasthenic syndrome. [provided by RefSeq, Jul 2008]
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choltrong>introng>ergic trong>receptortrong>, nicottrong>introng>ic, trong>betatrong> 3 (neuronal)
The nicottrong>introng>ic acetylcholtrong>introng>e trong>receptortrong>s (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are (hetero)pentamers composed of homologous subunits. The subunits that make up the muscle and neuronal forms of nAChRs are encoded by separate genes and have different primary structure. There are several subtypes of neuronal nAChRs that vary based on which homologous subunits are arranged around the central channel. They are classified as alpha-subunits if, like muscle alpha-1 (MIM 100690), they have a pair of adjacent cystetrong>introng>es as part of the presumed acetylcholtrong>introng>e btrong>introng>dtrong>introng>g site. Subunits lacktrong>introng>g these cystetrong>introng>e residues are classified as trong>betatrong>-subunits (Groot Kormeltrong>introng>k and Luyten, 1997 [PubMed 9009220]). Elliott et al. (1996) [PubMed 8906617] stated that the proposed structure for each subunit is a conserved N-termtrong>introng>al extracellular domatrong>introng> followed by 3 conserved transmembrane domatrong>introng>s, a variable cytoplasmic loop, a fourth conserved transmembrane domatrong>introng>, and a short C-termtrong>introng>al extracellular region.[supplied by OMIM, Apr 2010]
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choltrong>introng>ergic trong>receptortrong>, nicottrong>introng>ic, trong>betatrong> 2 (neuronal)
Neuronal acetylcholtrong>introng>e trong>receptortrong>s are homo- or heteropentameric complexes composed of homologous alpha and trong>betatrong> subunits. They belong to a superfamily of ligand-gated ion channels which allow the flow of sodium and potassium across the plasma membrane trong>introng> response to ligands such as acetylcholtrong>introng>e and nicottrong>introng>e. This gene encodes one of several trong>betatrong> subunits. Mutations trong>introng> this gene are associated with autosomal domtrong>introng>ant nocturnal frontal lobe epilepsy. [provided by RefSeq, Jul 2008]
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choltrong>introng>ergic trong>receptortrong>, nicottrong>introng>ic, trong>betatrong> 4 (neuronal)
This gene is found withtrong>introng> a conserved gene cluster and encodes one of the trong>betatrong> subunits of the nicottrong>introng>ic acetylcholtrong>introng>e trong>receptortrong> (nAChRs) superfamily which form ligand-gated ion channels with a central pore that forms a cation channel. Neuronal nAChRs are pentameric structures that can be either homomeric or heteromeric, with heteromeric structures contatrong>introng>trong>introng>g both alpha and trong>betatrong> subunits. Each subunit contatrong>introng>s an extracellular amtrong>introng>o termtrong>introng>us and four transmembrane domatrong>introng>s. Nicottrong>introng>e is one of the agonists that btrong>introng>ds to the trong>receptortrong>. Variants trong>introng> this gene have been associated with nicottrong>introng>e dependence and lung cancer. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g different isoforms. [provided by RefSeq, Sep 2017]
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trong>introng>terleuktrong>introng> 2 trong>receptortrong>, trong>betatrong>
The trong>introng>terleuktrong>introng> 2 trong>receptortrong>, which is trong>introng>volved trong>introng> T cell-mediated immune responses, is present trong>introng> 3 forms with respect to ability to btrong>introng>d trong>introng>terleuktrong>introng> 2. The low afftrong>introng>ity form is a monomer of the alpha subunit and is not trong>introng>volved trong>introng> signal transduction. The trong>introng>termediate afftrong>introng>ity form consists of an alpha/trong>betatrong> subunit heterodimer, while the high afftrong>introng>ity form consists of an alpha/trong>betatrong>/gamma subunit heterotrimer. Both the trong>introng>termediate and high afftrong>introng>ity forms of the trong>receptortrong> are trong>introng>volved trong>introng> trong>receptortrong>-mediated endocytosis and transduction of mitogenic signals from trong>introng>terleuktrong>introng> 2. The protetrong>introng> encoded by this gene represents the trong>betatrong> subunit and is a type I membrane protetrong>introng>. The use of alternative promoters results trong>introng> multiple transcript variants encodtrong>introng>g the same protetrong>introng>. The protetrong>introng> is primarily expressed trong>introng> the hematopoietic system. The use by some variants of an alternate promoter trong>introng> an upstream long termtrong>introng>al repeat (LTR) results trong>introng> placenta-specific expression. [provided by RefSeq, Sep 2016]
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transformtrong>introng>g growth factor, trong>betatrong> trong>receptortrong> II (70/80kDa)
The protetrong>introng> encoded by this gene is a transmembrane protetrong>introng> that has a protetrong>introng> ktrong>introng>ase domatrong>introng>, forms a heterodimeric complex with TGF-trong>betatrong> trong>receptortrong> type-1, and btrong>introng>ds TGF-trong>betatrong>. This trong>receptortrong>/ligand complex phosphorylates protetrong>introng>s, which then enter the nucleus and regulate the transcription of genes related to cell proliferation, cell cycle arrest, wound healtrong>introng>g, immunosuppression, and tumorigenesis. Mutations trong>introng> this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been characterized. [provided by RefSeq, Aug 2017]
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transformtrong>introng>g growth factor, trong>betatrong> trong>receptortrong> 1
The protetrong>introng> encoded by this gene forms a heteromeric complex with type II TGF-trong>betatrong> trong>receptortrong>s when bound to TGF-trong>betatrong>, transductrong>introng>g the TGF-trong>betatrong> signal from the cell surface to the cytoplasm. The encoded protetrong>introng> is a sertrong>introng>e/threontrong>introng>e protetrong>introng> ktrong>introng>ase. Mutations trong>introng> this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
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transformtrong>introng>g growth factor, trong>betatrong> trong>receptortrong> associated protetrong>introng> 1
This gene encodes a protetrong>introng> that btrong>introng>ds to transformtrong>introng>g growth factor-trong>betatrong> (TGF-trong>betatrong>) trong>receptortrong>s and plays a role trong>introng> TGF-trong>betatrong> signaltrong>introng>g. The encoded protetrong>introng> acts as a chaprone trong>introng> signaltrong>introng>g downstream of TGF-trong>betatrong>. It is trong>introng>volved trong>introng> signal-dependent association with SMAD4. The protetrong>introng> is also a component of mammalian CORVET, a multisubunit tethertrong>introng>g protetrong>introng> complex that is trong>introng>volved trong>introng> fusion of early endosomes. [provided by RefSeq, Jun 2016]
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estrogen-related trong>receptortrong> trong>betatrong>
This gene encodes a protetrong>introng> with similarity to the estrogen trong>receptortrong>. Its function is unknown; however, a similar protetrong>introng> trong>introng> mouse plays an essential role trong>introng> placental development. [provided by RefSeq, Jul 2008]
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trong>introng>terferon (alpha, trong>betatrong> and omega) trong>receptortrong> 2
The protetrong>introng> encoded by this gene is a type I membrane protetrong>introng> that forms one of the two trong>chatrong>introng>trong>s of a trong>receptortrong> for trong>introng>terferons alpha and trong>betatrong>. Btrong>introng>dtrong>introng>g and activation of the trong>receptortrong> stimulates Janus protetrong>introng> ktrong>introng>ases, which trong>introng> turn phosphorylate several protetrong>introng>s, trong>introng>cludtrong>introng>g STAT1 and STAT2. The protetrong>introng> belongs to the type II cytoktrong>introng>e trong>receptortrong> family. Mutations trong>introng> this gene are associated with Immunodeficiency 45. [provided by RefSeq, Jul 2020]
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trong>introng>terferon (alpha, trong>betatrong> and omega) trong>receptortrong> 1
The protetrong>introng> encoded by this gene is a type I membrane protetrong>introng> that forms one of the two trong>chatrong>introng>trong>s of a trong>receptortrong> for trong>introng>terferons alpha and trong>betatrong>. Btrong>introng>dtrong>introng>g and activation of the trong>receptortrong> stimulates Janus protetrong>introng> ktrong>introng>ases, which trong>introng> turn phosphorylate several protetrong>introng>s, trong>introng>cludtrong>introng>g STAT1 and STAT2. The protetrong>introng> belongs to the type II cytoktrong>introng>e trong>receptortrong> family and functions as an antiviral factor. [provided by RefSeq, Jul 2020]
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peroxisome proliferator-activated trong>receptortrong> gamma, coactivator 1 trong>betatrong>
The protetrong>introng> encoded by this gene stimulates the activity of several transcription factors and nuclear trong>receptortrong>s, trong>introng>cludtrong>introng>g estrogen trong>receptortrong> alpha, nuclear respiratory factor 1, and glucocorticoid trong>receptortrong>. The encoded protetrong>introng> may be trong>introng>volved trong>introng> fat oxidation, non-oxidative glucose metabolism, and the regulation of energy expenditure. This protetrong>introng> is downregulated trong>introng> prediabetic and type 2 diabetes mellitus patients. Certatrong>introng> allelic variations trong>introng> this gene trong>introng>crease the risk of the development of obesity. Three transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
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transformtrong>introng>g growth factor, trong>betatrong> trong>receptortrong> III
This locus encodes the transformtrong>introng>g growth factor (TGF)-trong>betatrong> type III trong>receptortrong>. The encoded trong>receptortrong> is a membrane proteoglycan that often functions as a co-trong>receptortrong> with other TGF-trong>betatrong> trong>receptortrong> superfamily members. Ectodomatrong>introng> sheddtrong>introng>g produces soluble TGFBR3, which may trong>introng>hibit TGFB signaltrong>introng>g. Decreased expression of this trong>receptortrong> has been observed trong>introng> various cancers. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been identified for this gene.[provided by RefSeq, Sep 2010]
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colony stimulattrong>introng>g factor 2 trong>receptortrong>, trong>betatrong>, low-afftrong>introng>ity (granulocyte-macrophage) pseudogene 1
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trong>introng>terleuktrong>introng> 12 trong>receptortrong>, trong>betatrong> 1
The protetrong>introng> encoded by this gene is a type I transmembrane protetrong>introng> that belongs to the hemopoiettrong>introng> trong>receptortrong> superfamily. This protetrong>introng> btrong>introng>ds to trong>introng>terleuktrong>introng>e 12 (IL12) with a low afftrong>introng>ity, and is thought to be a part of IL12 trong>receptortrong> complex. This protetrong>introng> forms a disulfide-ltrong>introng>ked oligomer, which is required for its IL12 btrong>introng>dtrong>introng>g activity. The coexpression of this and IL12RB2 protetrong>introng>s was shown to lead to the formation of high-afftrong>introng>ity IL12 btrong>introng>dtrong>introng>g sites and reconstitution of IL12 dependent signaltrong>introng>g. Mutations trong>introng> this gene impair the development of trong>introng>terleuktrong>introng>-17-productrong>introng>g T lymphocytes and result trong>introng> trong>introng>creased susceptibility to mycobacterial and Salmonella trong>introng>fections. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Feb 2014]
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trong>introng>terleuktrong>introng> 12 trong>receptortrong>, trong>betatrong> 2
The protetrong>introng> encoded by this gene is a type I transmembrane protetrong>introng> identified as a subunit of the trong>introng>terleuktrong>introng> 12 trong>receptortrong> complex. The coexpression of this and IL12RB1 protetrong>introng>s was shown to lead to the formation of high-afftrong>introng>ity IL12 btrong>introng>dtrong>introng>g sites and reconstitution of IL12 dependent signaltrong>introng>g. The expression of this gene is up-regulated by trong>introng>terferon gamma trong>introng> Th1 cells, and plays a role trong>introng> Th1 cell differentiation. The up-regulation of this gene is found to be associated with a number of trong>introng>fectious diseases, such as Crohn's disease and leprosy, which is thought to contribute to the trong>introng>flammatory response and host defense. Several transcript variants encodtrong>introng>g different isoforms and non-protetrong>introng> codtrong>introng>g transcripts have been found for this gene. [provided by RefSeq, Apr 2012]
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gamma-amtrong>introng>obutyric acid (GABA) A trong>receptortrong>, trong>betatrong> 2
The gamma-amtrong>introng>obutyric acid (GABA) A trong>receptortrong> is a multisubunit chloride channel that mediates the fastest trong>introng>hibitory synaptic transmission trong>introng> the central nervous system. This gene encodes GABA A trong>receptortrong>, trong>betatrong> 2 subunit. It is mapped to chromosome 5q34 trong>introng> a cluster comprised of genes encodtrong>introng>g alpha 1 and gamma 2 subunits of the GABA A trong>receptortrong>. Alternative splictrong>introng>g of this gene generates 2 transcript variants, differtrong>introng>g by a 114 bp trong>introng>sertion. [provided by RefSeq, Jul 2008]
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transformtrong>introng>g growth factor, trong>betatrong> trong>receptortrong> III-like
Predicted to enable glycosamtrong>introng>oglycan btrong>introng>dtrong>introng>g activity; transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> activity; and type II transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> btrong>introng>dtrong>introng>g activity. Predicted to contribute to transformtrong>introng>g growth factor trong>betatrong> btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g epithelial to mesenchymal transition; regulation of transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> signaltrong>introng>g pathway; and transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> signaltrong>introng>g pathway. Predicted to be located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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transductrong>introng> (trong>betatrong>)-like 1 X-ltrong>introng>ked trong>receptortrong> 1
This gene is a member of the WD40 repeat-contatrong>introng>trong>introng>g gene family and shares sequence similarity with transductrong>introng> (trong>betatrong>)-like 1X-ltrong>introng>ked (TBL1X). The protetrong>introng> encoded by this gene is thought to be a component of both nuclear trong>receptortrong> corepressor (N-CoR) and histone deacetylase 3 (HDAC 3) complexes, and is required for transcriptional activation by a variety of transcription factors. Mutations trong>introng> these gene have been associated with some autism spectrum disorders, and one ftrong>introng>dtrong>introng>g suggests that haplotrong>introng>sufficiency of this gene may be a cause of trong>introng>tellectual disability with dysmorphism. Mutations trong>introng> this gene as well as recurrent translocations trong>introng>volvtrong>introng>g this gene have also been observed trong>introng> some tumors. [provided by RefSeq, Mar 2016]
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estrogen trong>receptortrong> 2 (ER trong>betatrong>)
This gene encodes a member of the family of estrogen trong>receptortrong>s and superfamily of nuclear trong>receptortrong> transcription factors. The gene product contatrong>introng>s an N-termtrong>introng>al DNA btrong>introng>dtrong>introng>g domatrong>introng> and C-termtrong>introng>al ligand btrong>introng>dtrong>introng>g domatrong>introng> and is localized to the nucleus, cytoplasm, and mitochondria. Upon btrong>introng>dtrong>introng>g to 17trong>betatrong>-estradiol or related ligands, the encoded protetrong>introng> forms homo- or hetero-dimers that trong>introng>teract with specific DNA sequences to activate transcription. Some isoforms domtrong>introng>antly trong>introng>hibit the activity of other estrogen trong>receptortrong> family members. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been fully characterized. [provided by RefSeq, Jul 2008]
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paired immunoglobtrong>introng>-like type 2 trong>receptortrong> trong>betatrong>
The paired immunoglobtrong>introng>-like type 2 trong>receptortrong>s consist of highly related activattrong>introng>g and trong>introng>hibitory trong>receptortrong>s that are trong>introng>volved trong>introng> the regulation of many aspects of the immune system. The paired immunoglobultrong>introng>-like trong>receptortrong> genes are located trong>introng> a tandem head-to-tail orientation on chromosome 7. This gene encodes the activattrong>introng>g member of the trong>receptortrong> pair and contatrong>introng>s a truncated cytoplasmic tail relative to its trong>introng>hibitory counterpart (PILRA), that has a long cytoplasmic tail with immunotrong>receptortrong> tyrostrong>introng>e-based trong>introng>hibitory (ITIM) motifs. This gene is thought to have arisen from a duplication of the trong>introng>hibitory PILRA gene and evolved to acquire its activattrong>introng>g function. [provided by RefSeq, Jun 2013]
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transductrong>introng> (trong>betatrong>)-like 1 X-ltrong>introng>ked trong>receptortrong> 1 pseudogene
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cytotoxic and regulatory T cell molecule
The CRTAM gene is upregulated trong>introng> CD4 (see MIM 186940)-positive and CD8 (see CD8A; MIM 186910)-positive T cells and encodes a type I transmembrane protetrong>introng> with V and C1-like Ig domatrong>introng>s (Yeh et al., 2008 [PubMed 18329370]).[supplied by OMIM, Feb 2009]
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margtrong>introng>al zone B and B1 cell-specific protetrong>introng>
trong>Introng>volved trong>introng> positive regulation of cell population proliferation. Located trong>introng> cytoplasm and extracellular region. [provided by Alliance of Genome Resources, Mar 2025]
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speedy/RINGO cell cycle regulator family member E12, pseudogene
Predicted to enable protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity. [provided by Alliance of Genome Resources, Mar 2025]
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cell cycle exit and neuronal differentiation protetrong>introng> 1-like
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cell division cycle 27 pseudogene 10
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cell division cycle 27 pseudogene 11
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cell division cycle associated 8 pseudogene
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B-cell translocation gene 4
The protetrong>introng> encoded by this gene is a member of the BTG/Tob family. This family has structurally related protetrong>introng>s that appear to have antiproliferative properties. This encoded protetrong>introng> can trong>introng>duce G1 arrest trong>introng> the cell cycle. [provided by RefSeq, Jul 2008]
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B-cell translocation gene 1, anti-proliferative
This gene is a member of an anti-proliferative gene family that regulates cell growth and differentiation. Expression of this gene is highest trong>introng> the G0/G1 phases of the cell cycle and downregulated when cells progressed through G1. The encoded protetrong>introng> trong>introng>teracts with several nuclear trong>receptortrong>s, and functions as a coactivator of cell differentiation. This locus has been shown to be trong>introng>volved trong>introng> a t(8;12)(q24;q22) chromosomal translocation trong>introng> a case of B-cell chronic lymphocytic leukemia. [provided by RefSeq, Oct 2008]
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putative glyctrong>introng>e-rich cell wall structural protetrong>introng> 1
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mediator of cell motility 1 pseudogene 4
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mediator of cell motility 1 pseudogene 2
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mediator of cell motility 1 pseudogene 3
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programmed cell death 6 pseudogene
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myeloid cell leukemia 1
This gene encodes an anti-apoptotic protetrong>introng>, which is a member of the Bcl-2 family. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. The longest gene product (isoform 1) enhances cell survival by trong>introng>hibittrong>introng>g apoptosis while the alternatively spliced shorter gene products (isoform 2 and isoform 3) promote apoptosis and are death-trong>introng>ductrong>introng>g. [provided by RefSeq, Oct 2010]
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cell cycle exit and neuronal differentiation 1
The protetrong>introng> encoded by this gene is a neuron-specific protetrong>introng>. The similar protetrong>introng> trong>introng> pig enhances neuroblastoma cell differentiation trong>introng> vitro and may be trong>introng>volved trong>introng> neuronal differentiation trong>introng> vivo. Multiple pseudogenes have been reported for this gene. [provided by RefSeq, Jul 2008]
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proliferattrong>introng>g cell nuclear antigen
The protetrong>introng> encoded by this gene is found trong>introng> the nucleus and is a cofactor of DNA polymerase delta. The encoded protetrong>introng> acts as a homotrimer and helps trong>introng>crease the processivity of leadtrong>introng>g strand synthesis durtrong>introng>g DNA replication. trong>Introng> response to DNA damage, this protetrong>introng> is ubiquittrong>introng>ated and is trong>introng>volved trong>introng> the RAD6-dependent DNA repair pathway. Two transcript variants encodtrong>introng>g the same protetrong>introng> have been found for this gene. Pseudogenes of this gene have been described on chromosome 4 and on the X chromosome. [provided by RefSeq, Jul 2008]
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BOC cell adhesion associated, oncogene regulated
The protetrong>introng> encoded by this gene is a member of the immunoglobultrong>introng>/fibronecttrong>introng> type III repeat family. It is a component of a cell-surface trong>receptortrong> complex that mediates cell-cell trong>introng>teractions between muscle precursor cells, and promotes myogenic differentiation. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g different isoforms. [provided by RefSeq, Sep 2014]
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cell adhesion associated, oncogene regulated pseudogene
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cell division cycle 34
The protetrong>introng> encoded by this gene is a member of the ubiquittrong>introng>-conjugattrong>introng>g enzyme family. Ubiquittrong>introng>-conjugattrong>introng>g enzyme catalyzes the covalent attachment of ubiquittrong>introng> to other protetrong>introng>s. This protetrong>introng> is a part of the large multiprotetrong>introng> complex, which is required for ubiquittrong>introng>-mediated degradation of cell cycle G1 regulators, and for the trong>introng>itiation of DNA replication. [provided by RefSeq, Jul 2008]
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cell division cycle 37
The protetrong>introng> encoded by this gene is highly similar to Cdc 37, a cell division cycle control protetrong>introng> of Sacchromyces cerevisiae. This protetrong>introng> is a molecular chaperone with specific function trong>introng> cell signal transduction. It has been shown to form complex with Hsp90 and a variety of protetrong>introng> ktrong>introng>ases trong>introng>cludtrong>introng>g CDK4, CDK6, SRC, RAF-1, MOK, as well as eIF2 alpha ktrong>introng>ases. It is thought to play a critical role trong>introng> directtrong>introng>g Hsp90 to its target ktrong>introng>ases. [provided by RefSeq, Jul 2008]
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B-cell CLL/lymphoma 9
BCL9 is associated with B-cell acute lymphoblastic leukemia. It may be a target of translocation trong>introng> B-cell malignancies with abnormalities of 1q21. Its function is unknown. The overexpression of BCL9 may be of pathogenic significance trong>introng> B-cell malignancies. [provided by RefSeq, Jul 2008]
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B-cell CLL/lymphoma 6
The protetrong>introng> encoded by this gene is a ztrong>introng>c ftrong>introng>ger transcription factor and contatrong>introng>s an N-termtrong>introng>al POZ domatrong>introng>. This protetrong>introng> acts as a sequence-specific repressor of transcription, and has been shown to modulate the transcription of STAT-dependent IL-4 responses of B cells. This protetrong>introng> can trong>introng>teract with a variety of POZ-contatrong>introng>trong>introng>g protetrong>introng>s that function as transcription corepressors. This gene is found to be frequently translocated and hypermutated trong>introng> diffuse large-cell lymphoma (DLCL), and may be trong>introng>volved trong>introng> the pathogenesis of DLCL. Alternatively spliced transcript variants encodtrong>introng>g different protetrong>introng> isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
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B-cell CLL/lymphoma 3
This gene is a proto-oncogene candidate. It is identified by its translocation trong>introng>to the immunoglobultrong>introng> alpha-locus trong>introng> some cases of B-cell leukemia. The protetrong>introng> encoded by this gene contatrong>introng>s seven ankyrtrong>introng> repeats, which are most closely related to those found trong>introng> I kappa B protetrong>introng>s. This protetrong>introng> functions as a transcriptional co-activator that activates through its association with NF-kappa B homodimers. The expression of this gene can be trong>introng>duced by NF-kappa B, which forms a part of the autoregulatory loop that controls the nuclear residence of p50 NF-kappa B. [provided by RefSeq, Jul 2008]
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B-cell CLL/lymphoma 2
This gene encodes an trong>introng>tegral outer mitochondrial membrane protetrong>introng> that blocks the apoptotic death of some cells such as lymphocytes. Constitutive expression of BCL2, such as trong>introng> the case of translocation of BCL2 to Ig heavy trong>chatrong>introng>trong> locus, is thought to be the cause of follicular lymphoma. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Feb 2016]
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histone cell cycle regulator
This gene encodes a histone chaperone that preferentially places the variant histone H3.3 trong>introng> nucleosomes. Orthologs of this gene trong>introng> yeast, flies, and plants are necessary for the formation of transcriptionally silent heterochomattrong>introng>. This gene plays an important role trong>introng> the formation of the senescence-associated heterochromattrong>introng> foci. These foci likely mediate the irreversible cell cycle changes that occur trong>introng> senescent cells. It is considered the primary candidate gene trong>introng> some haplotrong>introng>sufficiency syndromes such as DiGeorge syndrome, and trong>introng>sufficient production of the gene may disrupt normal embryonic development. [provided by RefSeq, Jul 2008]
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trong>introng>sultrong>introng>-like 3 (Leydig cell)
This gene encodes a member of the trong>introng>sultrong>introng>-like hormone superfamily. The encoded protetrong>introng> is matrong>introng>ly produced trong>introng> gonadal tissues. Studies of the mouse counterpart suggest that this gene may be trong>introng>volved trong>introng> the development of urogenital tract and female fertility. This protetrong>introng> may also act as a hormone to regulate growth and differentiation of gubernaculum, and thus mediattrong>introng>g trong>introng>tra-abdomtrong>introng>al testicular descent. Mutations trong>introng> this gene may lead to cryptorchidism. Alternate splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, May 2012]
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myeloid cell nuclear differentiation antigen
The myeloid cell nuclear differentiation antigen (MNDA) is detected only trong>introng> nuclei of cells of the granulocyte-monocyte ltrong>introng>eage. A 200-amtrong>introng>o acid region of human MNDA is striktrong>introng>gly similar to a region trong>introng> the protetrong>introng>s encoded by a family of trong>introng>terferon-trong>introng>ducible mouse genes, designated Ifi-201, Ifi-202, and Ifi-203, that are not regulated trong>introng> a cell- or tissue-specific fashion. The 1.8-kb MNDA mRNA, which contatrong>introng>s an trong>introng>terferon-stimulated response element trong>introng> the 5-prime untranslated region, was significantly upregulated trong>introng> human monocytes exposed to trong>introng>terferon alpha. MNDA is located withtrong>introng> 2,200 kb of FCER1A, APCS, CRP, and SPTA1. trong>Introng> its pattern of expression and/or regulation, MNDA resembles IFI16, suggesttrong>introng>g that these genes participate trong>introng> blood cell-specific responses to trong>introng>terferons. [provided by RefSeq, Jul 2008]
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proliferattrong>introng>g cell nuclear antigen pseudogene 1
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proliferattrong>introng>g cell nuclear antigen pseudogene 4
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cell death-trong>introng>ductrong>introng>g p53 target 1
Predicted to enable ztrong>introng>c ion btrong>introng>dtrong>introng>g activity. Acts upstream of or withtrong>introng> trong>introng>trtrong>introng>sic apoptotic signaltrong>introng>g pathway trong>introng> response to DNA damage by p53 class mediator. Located trong>introng> cytoplasmic side of late endosome membrane; cytoplasmic side of lysosomal membrane; and nucleus. [provided by Alliance of Genome Resources, Mar 2025]
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cell division cycle associated 8 pseudogene
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scribbled planar cell polarity protetrong>introng>
This gene encodes a protetrong>introng> that was identified as betrong>introng>g similar to the Drosophila scribble protetrong>introng>. The mammalian protetrong>introng> is trong>introng>volved trong>introng> tumor suppression pathways. As a scaffold protetrong>introng> trong>introng>volved trong>introng> cell polarization processes, this protetrong>introng> btrong>introng>ds to many other protetrong>introng>s. The encoded protetrong>introng> btrong>introng>ds to papillomavirus E6 protetrong>introng> via its PDZ domatrong>introng> and the C-termtrong>introng>us of E6. Two alternatively spliced transcript variants that encode different protetrong>introng> isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
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T-cell activation RhoGTPase activattrong>introng>g protetrong>introng>
This gene encodes a member of the Rho GTPase-activator protetrong>introng> superfamily. The encoded protetrong>introng> may function as a Rho GTPase-activattrong>introng>g protetrong>introng>. Alterations trong>introng> this gene may be associated with several diseases, trong>introng>cludtrong>introng>g rheumatoid arthritis, celiac disease, and multiple sclerosis. Alternate splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g disttrong>introng>ct isoforms. [provided by RefSeq, Jul 2013]
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neuronal cell adhesion molecule
Cell adhesion molecules (CAMs) are members of the immunoglobultrong>introng> superfamily. This gene encodes a neuronal cell adhesion molecule with multiple immunoglobultrong>introng>-like C2-type domatrong>introng>s and fibronecttrong>introng> type-III domatrong>introng>s. This ankyrtrong>introng>-btrong>introng>dtrong>introng>g protetrong>introng> is trong>introng>volved trong>introng> neuron-neuron adhesion and promotes directional signaltrong>introng>g durtrong>introng>g axonal cone growth. This gene is also expressed trong>introng> non-neural tissues and may play a general role trong>introng> cell-cell communication via signaltrong>introng>g from its trong>introng>tracellular domatrong>introng> to the acttrong>introng> cytoskeleton durtrong>introng>g directional cell migration. Allelic variants of this gene have been associated with autism and addiction vulnerability. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g different isoforms. [provided by RefSeq, Jul 2008]
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mediator of cell motility 1 pseudogene 1
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defenstrong>introng>, alpha 6, Paneth cell-specific
Defenstrong>introng>s are a family of antimicrobial and cytotoxic peptides thought to be trong>introng>volved trong>introng> host defense. They are abundant trong>introng> the granules of neutrophils and also found trong>introng> the epithelia of mucosal surfaces such as those of the trong>introng>testtrong>introng>e, respiratory tract, urtrong>introng>ary tract, and vagtrong>introng>a. Members of the defenstrong>introng> family are highly similar trong>introng> protetrong>introng> sequence and disttrong>introng>guished by a conserved cystetrong>introng>e motif. Several alpha defenstrong>introng> genes appear to be clustered on chromosome 8. The protetrong>introng> encoded by this gene, defenstrong>introng>, alpha 6, is highly expressed trong>introng> the secretory granules of Paneth cells of the small trong>introng>testtrong>introng>e, and likely plays a role trong>introng> host defense of human bowel. [provided by RefSeq, Oct 2014]
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defenstrong>introng>, alpha 5, Paneth cell-specific
Defenstrong>introng>s are a family of antimicrobial and cytotoxic peptides thought to be trong>introng>volved trong>introng> host defense. They are abundant trong>introng> the granules of neutrophils and also found trong>introng> the epithelia of mucosal surfaces such as those of the trong>introng>testtrong>introng>e, respiratory tract, urtrong>introng>ary tract, and vagtrong>introng>a. Members of the defenstrong>introng> family are highly similar trong>introng> protetrong>introng> sequence and disttrong>introng>guished by a conserved cystetrong>introng>e motif. Several of the alpha defenstrong>introng> genes appear to be clustered on chromosome 8. The protetrong>introng> encoded by this gene, defenstrong>introng>, alpha 5, is highly expressed trong>introng> the secretory granules of Paneth cells of the ileum. [provided by RefSeq, Oct 2014]
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programmed cell death 1 ligand 2
trong>Introng>volved trong>introng> negative regulation of activated T cell proliferation; negative regulation of trong>introng>terleuktrong>introng>-10 production; and negative regulation of type II trong>introng>terferon production. Predicted to be located trong>introng> plasma membrane. Predicted to be active trong>introng> external side of plasma membrane. Biomarker of pulmonary tuberculosis. [provided by Alliance of Genome Resources, Mar 2025]
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downregulated RNA trong>introng> cancer, trong>introng>hibitor of cell trong>introng>vasion and migration
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T-cell leukemia translocation altered
trong>Introng>volved trong>introng> negative regulation of osteoclast differentiation and osteoclast fusion. Predicted to be located trong>introng> membrane. [provided by Alliance of Genome Resources, Mar 2025]
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Sertoli cell-only syndrome, Y-ltrong>introng>ked
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carctrong>introng>oembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotetrong>introng>) pseudogene
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zyg-11 family member B, cell cycle regulator
trong>Introng>volved trong>introng> positive regulation of proteasomal ubiquittrong>introng>-dependent protetrong>introng> catabolic process and protetrong>introng> quality control for misfolded or trong>introng>completely synthesized protetrong>introng>s. Part of Cul2-RING ubiquittrong>introng> ligase complex. [provided by Alliance of Genome Resources, Mar 2025]
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zyg-11 family member A, cell cycle regulator
Predicted to be part of Cul2-RING ubiquittrong>introng> ligase complex. [provided by Alliance of Genome Resources, Mar 2025]
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hexoktrong>introng>ase 3 (white cell)
Hexoktrong>introng>ases phosphorylate glucose to produce glucose-6-phosphate, the first step trong>introng> most glucose metabolism pathways. This gene encodes hexoktrong>introng>ase 3. Similar to hexoktrong>introng>ases 1 and 2, this allosteric enzyme is trong>introng>hibited by its product glucose-6-phosphate. [provided by RefSeq, Apr 2009]
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cell wall biogenesis 43 C-termtrong>introng>al homolog (S. cerevisiae)
Predicted to be trong>introng>volved trong>introng> GPI anchor biosynthetic process. Predicted to act upstream of or withtrong>introng> several processes, trong>introng>cludtrong>introng>g cerebrosptrong>introng>al fluid circulation; establishment of protetrong>introng> localization; and protetrong>introng> N-ltrong>introng>ked glycosylation. Predicted to be located trong>introng> extracellular region and membrane. Predicted to be active trong>introng> endoplasmic reticulum. [provided by Alliance of Genome Resources, Mar 2025]
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mature T-cell proliferation 1
This gene was identified by trong>introng>volvement trong>introng> some t(X;14) translocations associated with mature T-cell proliferations. This region has a complex gene structure, with a common promoter and 5' exon spliced to two different sets of 3' exons that encode two different protetrong>introng>s. This gene represents the upstream 13 kDa protetrong>introng> that is a member of the TCL1 family. This protetrong>introng> may be trong>introng>volved trong>introng> leukemogenesis. [provided by RefSeq, Mar 2009]
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cell division cycle associated 2
This gene encodes a targettrong>introng>g subunit of the cell-cycle associated protetrong>introng>, protetrong>introng> phosphatase 1, with a role trong>introng> targettrong>introng>g this protetrong>introng> to chromattrong>introng> durtrong>introng>g anaphase. These two protetrong>introng>s comprise a phosphatase complex that is trong>introng>volved trong>introng> nuclear envelope reformation and regulation of the DNA damage response. The encoded protetrong>introng> may also play a role trong>introng> cancer progression. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Dec 2015]
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cell division cycle associated 3
Predicted to be trong>introng>volved trong>introng> cell division and protetrong>introng> ubiquittrong>introng>ation. Located trong>introng> adherens junction. [provided by Alliance of Genome Resources, Mar 2025]
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cell division cycle associated 7
This gene was identified as a c-Myc responsive gene, and behaves as a direct c-Myc target gene. Overexpression of this gene is found to enhance the transformation of lymphoblastoid cells, and it complements a transformation-defective Myc Box II mutant, suggesttrong>introng>g its trong>introng>volvement trong>introng> c-Myc-mediated cell transformation. Two alternatively spliced transcript variants encodtrong>introng>g disttrong>introng>ct isoforms have been reported. [provided by RefSeq, Jul 2008]
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cell division cycle associated 4
This gene encodes a protetrong>introng> that belongs to the E2F family of transcription factors. This protetrong>introng> regulates E2F-dependent transcriptional activation and cell proliferation, matrong>introng>ly through the E2F/rettrong>introng>oblastoma protetrong>introng> pathway. It also functions trong>introng> the regulation of JUN oncogene expression. This protetrong>introng> shows disttrong>introng>ctive nuclear-mitotic apparatus distribution, it is trong>introng>volved trong>introng> sptrong>introng>dle organization from prometaphase, and may also play a role as a midzone factor trong>introng>volved trong>introng> chromosome segregation or cytoktrong>introng>esis. Two alternatively spliced transcript variants encodtrong>introng>g the same protetrong>introng> have been noted for this gene. Two pseudogenes have also been identified on chromosome 1. [provided by RefSeq, May 2014]
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cell division cycle associated 5
Predicted to enable chromattrong>introng> btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> chromosome organization; double-strand break repair; and positive regulation of exit from mitosis. Located trong>introng> nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]
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cell division cycle associated 8
This gene encodes a component of the chromosomal passenger complex. This complex is an essential regulator of mitosis and cell division. This protetrong>introng> is cell-cycle regulated and is required for chromattrong>introng>-trong>introng>duced microtubule stabilization and sptrong>introng>dle formation. Alternate splictrong>introng>g results trong>introng> multiple transcript variants. Pseudgenes of this gene are found on chromosomes 7, 8 and 16. [provided by RefSeq, Apr 2013]
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muctrong>introng> 4, cell surface associated
The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those trong>introng> the trachea, colon, and cervix, are highly glycosylated protetrong>introng>s called muctrong>introng>s. These glycoprotetrong>introng>s play important roles trong>introng> the protection of the epithelial cells and have been implicated trong>introng> epithelial renewal and differentiation. This gene encodes an trong>introng>tegral membrane glycoprotetrong>introng> found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determtrong>introng>ed or they are found only trong>introng> tumor tissues. This gene contatrong>introng>s a region trong>introng> the codtrong>introng>g sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]
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natural killer cell susceptibility 1
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cell migration trong>introng>ductrong>introng>g protetrong>introng>, hyaluronan btrong>introng>dtrong>introng>g
Enables several functions, trong>introng>cludtrong>introng>g clathrtrong>introng> heavy trong>chatrong>introng>trong> btrong>introng>dtrong>introng>g activity; hyaluronic acid btrong>introng>dtrong>introng>g activity; and hyalurononglucosamtrong>introng>idase activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g hyaluronan catabolic process; positive regulation of protetrong>introng> phosphorylation; and positive regulation of protetrong>introng> targettrong>introng>g to membrane. Located trong>introng> several cellular components, trong>introng>cludtrong>introng>g clathrtrong>introng>-coated endocytic vesicle; endoplasmic reticulum; and nucleus. [provided by Alliance of Genome Resources, Mar 2025]
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epithelial cell adhesion molecule
This gene encodes a carctrong>introng>oma-associated antigen and is a member of a family that trong>introng>cludes at least two type I membrane protetrong>introng>s. This antigen is expressed on most normal epithelial cells and gastrotrong>introng>testtrong>introng>al carctrong>introng>omas and functions as a homotypic calcium-trong>introng>dependent cell adhesion molecule. The antigen is betrong>introng>g used as a target for immunotherapy treatment of human carctrong>introng>omas. Mutations trong>introng> this gene result trong>introng> congenital tufttrong>introng>g enteropathy. [provided by RefSeq, Dec 2008]
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regulator of cell cycle
This gene is thought to regulate cell cycle progression. It is trong>introng>duced by p53 trong>introng> response to DNA damage, or by sublytic levels of complement system protetrong>introng>s that result trong>introng> activation of the cell cycle. The encoded protetrong>introng> localizes to the cytoplasm durtrong>introng>g trong>introng>terphase and to centrosomes durtrong>introng>g mitosis. The protetrong>introng> forms a complex with polo-like ktrong>introng>ase 1. The protetrong>introng> also translocates to the nucleus trong>introng> response to treatment with complement system protetrong>introng>s, and can associate with and trong>introng>crease the ktrong>introng>ase activity of cell division cycle 2 protetrong>introng>. trong>Introng> different assays and cell types, overexpression of this protetrong>introng> has been shown to activate or suppress cell cycle progression. [provided by RefSeq, Jul 2008]
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T-cell leukemia/lymphoma 6 (non-protetrong>introng> codtrong>introng>g)
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T-cell leukemia/lymphoma 4
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5-hydroxymethylcytostrong>introng>e (hmC) btrong>introng>dtrong>introng>g, ES cell-specific
Enables DNA-(abasic site) btrong>introng>dtrong>introng>g activity; protetrong>introng>-DNA covalent cross-ltrong>introng>ktrong>introng>g activity; and strong>introng>gle-stranded DNA btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> trong>introng>terstrand cross-ltrong>introng>k repair; protetrong>introng>-DNA covalent cross-ltrong>introng>ktrong>introng>g repair; and somatic hypermutation of immunoglobultrong>introng> genes. Is active trong>introng> replication fork. [provided by Alliance of Genome Resources, Mar 2025]
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host cell factor C1 regulator 1 (XPO1 dependent)
Located trong>introng> nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]
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muctrong>introng> 17, cell surface associated
The protetrong>introng> encoded by this gene is a membrane-bound muctrong>introng> that provides protection to gut epithelial cells. The encoded protetrong>introng> contatrong>introng>s about 60 tandem repeats, with each repeat betrong>introng>g around 60 aa. N-glycosylation enables the encoded protetrong>introng> to localize on the cell surface, while the C-termtrong>introng>us trong>introng>teracts with the scaffold protetrong>introng> PDZ domatrong>introng> contatrong>introng>trong>introng>g 1 (PDZK1). Two transcript variants, one protetrong>introng>-codtrong>introng>g and the other non-protetrong>introng> codtrong>introng>g, have been found for this gene. [provided by RefSeq, Nov 2015]
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muctrong>introng> 16, cell surface associated
This gene encodes a protetrong>introng> that is a member of the muctrong>introng> family. Muctrong>introng>s are high molecular weight, O-glycosylated protetrong>introng>s that play an important role trong>introng> formtrong>introng>g a protective mucous barrier, and are found on the apical surfaces of the epithelia. The encoded protetrong>introng> is a membrane-tethered muctrong>introng> that contatrong>introng>s an extracellular domatrong>introng> at its amtrong>introng>o termtrong>introng>us, a large tandem repeat domatrong>introng>, and a transmembrane domatrong>introng> with a short cytoplasmic domatrong>introng>. The amtrong>introng>o termtrong>introng>us is highly glycosylated, while the repeat region contatrong>introng>s 156 amtrong>introng>o acid repeats unit that are rich trong>introng> sertrong>introng>es, threontrong>introng>es, and proltrong>introng>es. trong>Introng>terspersed withtrong>introng> the repeats are Sea urchtrong>introng> sperm protetrong>introng> Enteroktrong>introng>ase and Agrtrong>introng> (SEA) modules, leuctrong>introng>e-rich repeats and ankyrtrong>introng> (ANK) repeats. These regions together form the ectodomatrong>introng>, and there is a potential cleavage site found near an SEA module close to the transmembrane domatrong>introng>. This protetrong>introng> is thought to play a role trong>introng> formtrong>introng>g a barrier, protecttrong>introng>g epithelial cells from pathogens. Products of this gene have been used as a marker for different cancers, with higher expression levels associated with poorer outcomes. [provided by RefSeq, May 2017]
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muctrong>introng> 15, cell surface associated
Predicted to be located trong>introng> Golgi lumen and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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muctrong>introng> 13, cell surface associated
Epithelial muctrong>introng>s, such as MUC13, are a family of secreted and cell surface glycoprotetrong>introng>s expressed by ductal and glandular epithelial tissues (Williams et al., 2001 [PubMed 11278439]).[supplied by OMIM, Jul 2008]
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muctrong>introng> 12, cell surface associated
This gene encodes an trong>introng>tegral membrane glycoprotetrong>introng> that is a member of the muctrong>introng> family. Muctrong>introng>s are O-glycosylated protetrong>introng>s that play an essential role trong>introng> formtrong>introng>g protective mucous barriers on epithelial surfaces and have been implicated trong>introng> epithelial renewal and differentiation. These glycoprotetrong>introng>s also play a role trong>introng> trong>introng>tracellular signaltrong>introng>g. This protetrong>introng> is expressed on the apical membrane surface of epithelial cells that ltrong>introng>e the mucosal surfaces of many different tissues trong>introng>cludtrong>introng>g the colon, pancreas, prostate, and uterus. The expression of this gene is downregulated trong>introng> colorectal cancer tissue. [provided by RefSeq, Apr 2017]
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thyroid carctrong>introng>oma, Hurthle cell
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neural precursor cell expressed, developmentally down-regulated 8
Enables ubiquittrong>introng> protetrong>introng> ligase btrong>introng>dtrong>introng>g activity. Acts upstream of or withtrong>introng> protetrong>introng> neddylation. Located trong>introng> cytosol and nucleoplasm. Biomarker of Parktrong>introng>son's disease and malignant astrocytoma. [provided by Alliance of Genome Resources, Mar 2025]
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neural precursor cell expressed, developmentally down-regulated 9
The protetrong>introng> encoded by this gene is a member of the CRK-associated substrates family. Members of this family are adhesion docktrong>introng>g molecules that mediate protetrong>introng>-protetrong>introng> trong>introng>teractions for signal transduction pathways. This protetrong>introng> is a focal adhesion protetrong>introng> that acts as a scaffold to regulate signaltrong>introng>g complexes important trong>introng> cell attachment, migration and trong>introng>vasion as well as apoptosis and the cell cycle. This protetrong>introng> has also been reported to have a role trong>introng> cancer metastasis. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Aug 2012]
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neural precursor cell expressed, developmentally down-regulated 1
Predicted to enable gamma-tubultrong>introng> btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> microtubule nucleation and mitotic cell cycle. Located trong>introng> centrosome; cytosol; and nuclear lumen. [provided by Alliance of Genome Resources, Mar 2025]
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hematopoietic cell-specific Lyn substrate 1
Enables RNA polymerase II-specific DNA-btrong>introng>dtrong>introng>g transcription factor btrong>introng>dtrong>introng>g activity; protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity; and signaltrong>introng>g adaptor activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g granulocyte colony-stimulattrong>introng>g factor signaltrong>introng>g pathway; positive regulation of macromolecule metabolic process; and positive regulation of phosphatidyltrong>introng>ositol 3-ktrong>introng>ase/protetrong>introng> ktrong>introng>ase B signal transduction. Located trong>introng> cytosol; nucleus; and plasma membrane. Part of transcription regulator complex. [provided by Alliance of Genome Resources, Mar 2025]
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E2F1-regulated trong>introng>hibitor of cell death (non-protetrong>introng> codtrong>introng>g)
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par-3 family cell polarity regulator
This gene encodes a member of the PARD protetrong>introng> family. PARD family members trong>introng>teract with other PARD family members and other protetrong>introng>s; they affect asymmetrical cell division and direct polarized cell growth. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]
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mal, T-cell differentiation protetrong>introng>-like pseudogene
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carboxypeptidase A3 (mast cell)
This gene encodes a member of the carboxypeptidase A family of ztrong>introng>c metalloproteases. The encoded preproprotetrong>introng> is proteolytically processed to generate a mature protease that is released by mast cells and may be trong>introng>volved trong>introng> the degradation of endogenous protetrong>introng>s and the trong>introng>activation of venom-associated peptides. Expression of this gene may be elevated trong>introng> human asthma patients. [provided by RefSeq, Nov 2015]
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LIM and senescent cell antigen-like domatrong>introng>s 3-like
Predicted to enable metal ion btrong>introng>dtrong>introng>g activity. Predicted to be located trong>introng> cytoplasm; focal adhesion; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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T-cell, immune regulator 1, ATPase, H+ transporttrong>introng>g, lysosomal V0 subunit A3
This gene encodes a subunit of a large protetrong>introng> complex known as a vacuolar H+-ATPase (V-ATPase). The protetrong>introng> complex acts as a pump to move protons across the membrane. This movement of protons helps regulate the pH of cells and their surroundtrong>introng>g environment. V-ATPase dependent organelle acidification is necessary for such trong>introng>tracellular processes as protetrong>introng> sorttrong>introng>g, zymogen activation, and trong>receptortrong>-mediated endocytosis. V-ATPase is comprised of a cytosolic V1 domatrong>introng> and a transmembrane V0 domatrong>introng>. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. Mutations trong>introng> this gene are associated with trong>introng>fantile malignant osteopetrosis. [provided by RefSeq, May 2017]
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frequently rearranged trong>introng> advanced T-cell lymphomas 1
The protetrong>introng> encoded by this gene belongs to the GSK-3-btrong>introng>dtrong>introng>g protetrong>introng> family. The protetrong>introng> trong>introng>hibits GSK-3-mediated phosphorylation of trong>betatrong>-catentrong>introng> and positively regulates the Wnt signaltrong>introng>g pathway. It may function trong>introng> tumor progression and trong>introng> lymphomagenesis. [provided by RefSeq, Oct 2008]
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frequently rearranged trong>introng> advanced T-cell lymphomas 2
The protetrong>introng> encoded by this trong>introng>tronless gene belongs to the GSK-3-btrong>introng>dtrong>introng>g protetrong>introng> family. Studies show that this protetrong>introng> plays a role as a positive regulator of the WNT signaltrong>introng>g pathway. It may be upregulated trong>introng> tumor progression. [provided by RefSeq, Jul 2008]
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stromal cell-derived factor 2-like 1
Enables misfolded protetrong>introng> btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> chaperone cofactor-dependent protetrong>introng> refoldtrong>introng>g. Located trong>introng> endoplasmic reticulum. Part of protetrong>introng> foldtrong>introng>g chaperone complex. [provided by Alliance of Genome Resources, Mar 2025]
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vegetative cell wall protetrong>introng> gp1-like
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Basal cell carctrong>introng>oma, susceptibility to, 5
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vegetative cell wall protetrong>introng> gp1-like
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melanoma cell adhesion molecule
trong>Introng>volved trong>introng> glomerular filtration and vascular wound healtrong>introng>g. Acts upstream of or withtrong>introng> angiogenesis. Located trong>introng> external side of plasma membrane. Biomarker of chronic obstructive pulmonary disease and uveal melanoma. [provided by Alliance of Genome Resources, Mar 2025]
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malignant T cell amplified sequence 1
Enables RNA cap btrong>introng>dtrong>introng>g activity; ribosomal small subunit btrong>introng>dtrong>introng>g activity; and translation factor activity, non-nucleic acid btrong>introng>dtrong>introng>g. trong>Introng>volved trong>introng> IRES-dependent viral translational trong>introng>itiation; cytoplasmic translational trong>introng>itiation; and ribosome disassembly. Is active trong>introng> cytoplasm. Implicated trong>introng> primary immunodeficiency disease. [provided by Alliance of Genome Resources, Mar 2025]
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cell division cycle and apoptosis regulator 1
Enables RNA polymerase II cis-regulatory region sequence-specific DNA btrong>introng>dtrong>introng>g activity; nuclear trong>receptortrong> coactivator activity; and transcription corepressor activity. trong>Introng>volved trong>introng> positive regulation of cell migration and positive regulation of cell population proliferation. Acts upstream of or withtrong>introng> positive regulation of apoptotic process. Located trong>introng> nuclear envelope lumen. [provided by Alliance of Genome Resources, Mar 2025]
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cell cycle and apoptosis regulator 2
Enables RNA polymerase II complex btrong>introng>dtrong>introng>g activity and enzyme trong>introng>hibitor activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g mitochondrial fragmentation trong>introng>volved trong>introng> apoptotic process; regulation of primary metabolic process; and regulation of signal transduction. Located trong>introng> several cellular components, trong>introng>cludtrong>introng>g mitochondrial matrix; nucleoplasm; and sptrong>introng>dle. Part of DBIRD complex. [provided by Alliance of Genome Resources, Mar 2025]
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programmed cell death 2 pseudogene
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meteortrong>introng>, glial cell differentiation regulator
Meteortrong>introng> regulates glial cell differentiation and promotes the formation of axonal networks durtrong>introng>g neurogenesis (Nishtrong>introng>o et al., 2004 [PubMed 15085178]).[supplied by OMIM, Mar 2008]
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Purktrong>introng>je cell protetrong>introng> 4
Enables calcium ion btrong>introng>dtrong>introng>g activity and calmodultrong>introng> btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> positive regulation of CAMKK-AMPK signaltrong>introng>g cascade and positive regulation of neuron differentiation. Located trong>introng> cytosol and nucleus. Part of protetrong>introng>-contatrong>introng>trong>introng>g complex. Biomarker of Hunttrong>introng>gton's disease and leiomyoma. [provided by Alliance of Genome Resources, Mar 2025]
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Purktrong>introng>je cell protetrong>introng> 2
Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to act upstream of or withtrong>introng> G protetrong>introng>-coupled opstrong>introng> signaltrong>introng>g pathway. Predicted to be located trong>introng> neuronal cell body. [provided by Alliance of Genome Resources, Mar 2025]
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cutaneous T-cell lymphoma-associated antigen 1
Predicted to be trong>introng>volved trong>introng> endoplasmic reticulum to Golgi vesicle-mediated transport; protetrong>introng> secretion; and vesicle cargo loadtrong>introng>g. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> endoplasmic reticulum exit site and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Mar 2025]
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germ cell-less, spermatogenesis associated 1 pseudogene 1
This locus shares a high degree of identity with the multi-exon germ cell-less gene on chromosome 2. Despite its strong>introng>gle-exon nature, this chromosome 5 locus contatrong>introng>s an open readtrong>introng>g frame that could putatively encode a full-length germ cell-less related protetrong>introng>. [provided by RefSeq, Jul 2008]
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germ cell-less, spermatogenesis associated 1 pseudogene 2
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small cell cancer of the lung
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Disrupted trong>introng> B-cell neoplasia
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vegetative cell wall protetrong>introng> gp1-like
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cell death-trong>introng>ductrong>introng>g DFFA-like effector c pseudogene
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cell division cycle 20B
Predicted to enable anaphase-promottrong>introng>g complex btrong>introng>dtrong>introng>g activity and ubiquittrong>introng> ligase activator activity. trong>Introng>volved trong>introng> de novo centriole assembly. Located trong>introng> deuterosome. [provided by Alliance of Genome Resources, Mar 2025]
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Basal cell carctrong>introng>oma, susceptibility to, 6
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VANGL planar cell polarity protetrong>introng> 1
This gene encodes a member of the tretraspantrong>introng> family. The encoded protetrong>introng> may be trong>introng>volved trong>introng> mediattrong>introng>g trong>introng>testtrong>introng>al trefoil factor trong>introng>duced wound healtrong>introng>g trong>introng> the trong>introng>testtrong>introng>al mucosa. Mutations trong>introng> this gene are associated with neural tube defects. Alternate splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Feb 2010]
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B-cell CLL/lymphoma 6, member B
Enables sequence-specific double-stranded DNA btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> negative regulation of transcription by RNA polymerase II; regulation of cytoktrong>introng>e production; and regulation of immune system process. Predicted to be located trong>introng> nucleus. Predicted to be active trong>introng> nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]
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SWAP switchtrong>introng>g B-cell complex 70kDa subunit
Enables cadhertrong>introng> btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> regulation of small GTPase mediated signal transduction. Predicted to act upstream of or withtrong>introng> isotype switchtrong>introng>g. Located trong>introng> acttrong>introng> cytoskeleton; cytoplasm; and plasma membrane. Is active trong>introng> postsynapse. [provided by Alliance of Genome Resources, Mar 2025]
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cell division cycle 5-like
The protetrong>introng> encoded by this gene shares a significant similarity with Schizosaccharomyces pombe cdc5 gene product, which is a cell cycle regulator important for G2/M transition. This protetrong>introng> has been demonstrated to act as a positive regulator of cell cycle G2/M progression. It was also found to be an essential component of a non-snRNA spliceosome, which contatrong>introng>s at least five additional protetrong>introng> factors and is required for the second catalytic step of pre-mRNA splictrong>introng>g. [provided by RefSeq, Jul 2008]
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cell death regulator Aven-like
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speedy/RINGO cell cycle regulator family member E10, pseudogene
Enables acetylcholtrong>introng>e trong>receptortrong> regulator activity. [provided by Alliance of Genome Resources, Mar 2025]
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follicular dendritic cell secreted protetrong>introng>
This gene encodes a small secreted protetrong>introng> that is expressed trong>introng> follicular dendritic cells. This protetrong>introng> specifically btrong>introng>ds to activated B cells, and functions as a regulator of antibody responses. It is also thought to contribute to tumor metastases by promottrong>introng>g cancer cell migration and trong>introng>vasion. [provided by RefSeq, Dec 2011]
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early B-cell factor 4
EBF4 belongs to the conserved Olf/EBF family of helix-loop-helix transcription factors, members of which play important roles trong>introng> neural development and B-cell maturation (Wang et al., 2002 [PubMed 12139918]).[supplied by OMIM, Mar 2008]
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early B-cell factor 3
This gene encodes a member of the early B-cell factor (EBF) family of DNA btrong>introng>dtrong>introng>g transcription factors. EBF protetrong>introng>s are trong>introng>volved trong>introng> B-cell differentiation, bone development and neurogenesis, and may also function as tumor suppressors. The encoded protetrong>introng> trong>introng>hibits cell survival through the regulation of genes trong>introng>volved trong>introng> cell cycle arrest and apoptosis, and aberrant methylation or deletion of this gene may play a role trong>introng> multiple malignancies trong>introng>cludtrong>introng>g glioblastoma multiforme and gastric carctrong>introng>oma. [provided by RefSeq, Sep 2011]
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early B-cell factor 2
The protetrong>introng> encoded by this gene belongs to the COE (Collier/Olf/EBF) family of non-basic, helix-loop-helix transcription factors that have a well conserved DNA btrong>introng>dtrong>introng>g domatrong>introng>. The COE family protetrong>introng>s play an important role trong>introng> variety of developmental processes. Studies trong>introng> mouse suggest that this gene may be trong>introng>volved trong>introng> the differentiation of osteoblasts. [provided by RefSeq, Oct 2011]
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early B-cell factor 1
Predicted to enable DNA-btrong>introng>dtrong>introng>g transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or withtrong>introng> positive regulation of DNA-templated transcription. Predicted to be located trong>introng> chromattrong>introng>. [provided by Alliance of Genome Resources, Mar 2025]
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cell growth regulator with rtrong>introng>g ftrong>introng>ger domatrong>introng> 1
Predicted to enable metal ion btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> negative regulation of cell growth. Located trong>introng> endoplasmic reticulum and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]
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glycosylation dependent cell adhesion molecule 1 (pseudogene)
Predicted to enable cell adhesion molecule btrong>introng>dtrong>introng>g activity and sulfate btrong>introng>dtrong>introng>g activity. Predicted to act upstream of or withtrong>introng> response to bacterium. Predicted to be located trong>introng> extracellular region. [provided by Alliance of Genome Resources, Mar 2025]
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vegetative cell wall protetrong>introng> gp1
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cell division cycle associated 7-like
Acts upstream of or withtrong>introng> positive regulation of cell population proliferation. Located trong>introng> cytosol; fibrillar center; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]
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T cell immunotrong>receptortrong> with Ig and ITIM domatrong>introng>s
This gene encodes a member of the PVR (poliovirus trong>receptortrong>) family of immunoglobtrong>introng> protetrong>introng>s. The product of this gene is expressed on several classes of T cells trong>introng>cludtrong>introng>g follicular B helper T cells (TFH). The protetrong>introng> has been shown to btrong>introng>d PVR with high afftrong>introng>ity; this btrong>introng>dtrong>introng>g is thought to assist trong>introng>teractions between TFH and dendritic cells to regulate T cell dependent B cell responses.[provided by RefSeq, Sep 2009]
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multiciliate differentiation and DNA synthesis associated cell cycle protetrong>introng>
This gene encodes a member of the gemtrong>introng>trong>introng> family of protetrong>introng>s. The encoded nuclear protetrong>introng> is required for the generation of multiciliated cells trong>introng> respiratory epithelium. Mutations trong>introng> this gene cause a rare mucociliary clearance disorder associated with recurrtrong>introng>g respiratory trong>introng>fections trong>introng> human patients, known as reduced generation of multiple motile cilia (RGMC). [provided by RefSeq, Sep 2016]
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mediator of cell motility 1
trong>Introng>volved trong>introng> regulation of microtubule-based process. Located trong>introng> cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]
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BH3-like motif contatrong>introng>trong>introng>g, cell death trong>introng>ducer
This gene encodes a BH3-like motif contatrong>introng>trong>introng>g protetrong>introng> trong>introng>volved trong>introng> cell death. The encoded protetrong>introng> may trong>introng>duce apoptosis trong>introng> a caspase-dependent manner. The protetrong>introng> is localized trong>introng> both the cytoplasm and the mitochondrion. [provided by RefSeq, Aug 2011]
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endothelial cell adhesion molecule
Enables cell-cell adhesion mediator activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g bicellular tight junction assembly; cell-cell adhesion; and regulation of acttrong>introng> filament polymerization. Located trong>introng> cell-cell junction and plasma membrane. Part of protetrong>introng>-contatrong>introng>trong>introng>g complex. [provided by Alliance of Genome Resources, Mar 2025]
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B-cell scaffold protetrong>introng> with ankyrtrong>introng> repeats 1
The protetrong>introng> encoded by this gene is a B-cell-specific scaffold protetrong>introng> that functions trong>introng> B-cell trong>receptortrong>-trong>introng>duced calcium mobilization from trong>introng>tracellular stores. This protetrong>introng> can also promote Lyn-mediated tyrostrong>introng>e phosphorylation of trong>introng>ositol 1,4,5-trisphosphate trong>receptortrong>s. Polymorphisms trong>introng> this gene are associated with susceptibility to systemic lupus erythematosus. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Oct 2009]
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fuzzy planar cell polarity protetrong>introng>
This gene encodes a planar cell polarity protetrong>introng> that is trong>introng>volved trong>introng> ciliogenesis and directional cell movement. Knockout studies trong>introng> mice exhibit neural tube defects and defective cilia, and mutations trong>introng> this gene are associated with neural tube defects trong>introng> humans. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2012]
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carctrong>introng>oembryonic antigen-related cell adhesion molecule 19
Predicted to be trong>introng>volved trong>introng> heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> cell surface. [provided by Alliance of Genome Resources, Mar 2025]
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carctrong>introng>oembryonic antigen-related cell adhesion molecule 18
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carctrong>introng>oembryonic antigen-related cell adhesion molecule 16
The protetrong>introng> encoded by this gene is a secreted glycoprotetrong>introng> that trong>introng> mouse trong>introng>teracts with tectorial membrane protetrong>introng>s trong>introng> the trong>introng>ner ear. The encoded adhesion protetrong>introng> is found trong>introng> cochlear outer hair cells and appears to be important for proper heartrong>introng>g over an extended frequency range. Defects trong>introng> this gene likely are a cause of non-syndromic autosomal domtrong>introng>ant heartrong>introng>g loss. [provided by RefSeq, May 2012]
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cell death-trong>introng>ductrong>introng>g DFFA-like effector c
This gene encodes a member of the cell death-trong>introng>ductrong>introng>g DNA fragmentation factor-like effector family. Members of this family play important roles trong>introng> apoptosis. The encoded protetrong>introng> promotes lipid droplet formation trong>introng> adipocytes and may mediate adipocyte apoptosis. This gene is regulated by trong>introng>sultrong>introng> and its expression is positively correlated with trong>introng>sultrong>introng> sensitivity. Mutations trong>introng> this gene may contribute to trong>introng>sultrong>introng> resistant diabetes. A pseudogene of this gene is located on the short arm of chromosome 3. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
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cell death-trong>introng>ductrong>introng>g DFFA-like effector a
This gene encodes the homolog of the mouse protetrong>introng> Cidea that has been shown to activate apoptosis. This activation of apoptosis is trong>introng>hibited by the DNA fragmentation factor DFF45 but not by caspase trong>introng>hibitors. Mice that lack functional Cidea have higher metabolic rates, higher lipolysis trong>introng> brown adipose tissue and higher core body temperatures when subjected to cold. These mice are also resistant to diet-trong>introng>duced obesity and diabetes. This suggests that trong>introng> mice this gene product plays a role trong>introng> thermogenesis and lipolysis. Alternatively spliced transcripts have been identified. [provided by RefSeq, Aug 2010]
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cell division cycle 42 pseudogene 5
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vegetative cell wall protetrong>introng> gp1-like
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pre-B-cell leukemia homeobox trong>introng>teracttrong>introng>g protetrong>introng> 1
The protetrong>introng> encoded by this gene trong>introng>teracts with the PBX1 homeodomatrong>introng> protetrong>introng>, trong>introng>hibittrong>introng>g its transcriptional activation potential by preventtrong>introng>g its btrong>introng>dtrong>introng>g to DNA. The encoded protetrong>introng>, which is primarily cytosolic but can shuttle to the nucleus, also can trong>introng>teract with estrogen trong>receptortrong>s alpha and trong>betatrong> and promote the proliferation of breast cancer, bratrong>introng> tumors, and lung cancer. Several transcript variants encodtrong>introng>g different isoforms have been found for this gene. More variants exist, but their full-length natures have yet to be determtrong>introng>ed. [provided by RefSeq, Dec 2015]
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programmed cell death 6
This gene encodes a calcium-btrong>introng>dtrong>introng>g protetrong>introng> belongtrong>introng>g to the penta-EF-hand protetrong>introng> family. Calcium btrong>introng>dtrong>introng>g is important for homodimerization and for conformational changes required for btrong>introng>dtrong>introng>g to other protetrong>introng> partners. This gene product participates trong>introng> T cell trong>receptortrong>-, Fas-, and glucocorticoid-trong>introng>duced programmed cell death. trong>Introng> mice deficient for this gene product, however, apoptosis was not blocked suggesttrong>introng>g this gene product is functionally redundant. Alternatively spliced transcript variants encodtrong>introng>g multiple isoforms have been observed for this gene, and a pseudogene of this gene is also located on the short arm of chromosome 5. [provided by RefSeq, May 2012]
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programmed cell death 7
This gene encodes a 59 kDa protetrong>introng> that is associated with the U11 small nuclear ribonucleoprotetrong>introng> (snRNP), which is a component of the mtrong>introng>or U12-type spliceosome responsible for catalyztrong>introng>g pre-mRNA splictrong>introng>g of U12-type trong>introng>trons. [provided by RefSeq, Dec 2010]
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programmed cell death 4 (neoplastic transformation trong>introng>hibitor)
This gene is a tumor suppressor and encodes a protetrong>introng> that btrong>introng>ds to the eukaryotic translation trong>introng>itiation factor 4A1 and trong>introng>hibits its function by preventtrong>introng>g RNA btrong>introng>dtrong>introng>g. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Dec 2010]
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programmed cell death 5
This gene encodes a protetrong>introng> that is upregulated durtrong>introng>g apoptosis where it translocates rapidly from the cytoplasm to the nucleus. The encoded protetrong>introng> may be an important regulator of K(lystrong>introng>e) acetyltransferase 5 (a protetrong>introng> trong>introng>volved trong>introng> transcription, DNA damage response and cell cycle control) by trong>introng>hibittrong>introng>g its proteasome-dependent degradation. Pseudogenes have been identified on chromosomes 5 and 12 [provided by RefSeq, Dec 2010]
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programmed cell death 2
This gene encodes a nuclear protetrong>introng> expressed trong>introng> a variety of tissues. Expression of this gene has been shown to be repressed by B-cell CLL/lymphoma 6 (BCL6), a transcriptional repressor required for lymph node germtrong>introng>al center development, suggesttrong>introng>g that BCL6 regulates apoptosis by its effects on this protetrong>introng>. Alternative splictrong>introng>g results trong>introng> multiple transcript variants and pseudogenes have been identified on chromosomes 9 and 12. [provided by RefSeq, Dec 2010]
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programmed cell death 1
Programmed cell death protetrong>introng> 1 (PDCD1) is an immune-trong>introng>hibitory trong>receptortrong> expressed trong>introng> activated T cells; it is trong>introng>volved trong>introng> the regulation of T-cell functions, trong>introng>cludtrong>introng>g those of effector CD8+ T cells. trong>Introng> addition, this protetrong>introng> can also promote the differentiation of CD4+ T cells trong>introng>to T regulatory cells. PDCD1 is expressed trong>introng> many types of tumors trong>introng>cludtrong>introng>g melanomas, and has demonstrated to play a role trong>introng> anti-tumor immunity. Moreover, this protetrong>introng> has been shown to be trong>introng>volved trong>introng> safeguardtrong>introng>g agatrong>introng>st autoimmunity, however, it can also contribute to the trong>introng>hibition of effective anti-tumor and anti-microbial immunity. [provided by RefSeq, Aug 2020]
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programmed cell death 10
This gene encodes an evolutionarily conserved protetrong>introng> associated with cell apoptosis. The protetrong>introng> trong>introng>teracts with the sertrong>introng>e/threontrong>introng>e protetrong>introng> ktrong>introng>ase MST4 to modulate the extracellular signal-regulated ktrong>introng>ase (ERK) pathway. It also trong>introng>teracts with and is phosphoryated by sertrong>introng>e/threontrong>introng>e ktrong>introng>ase 25, and is thought to function trong>introng> a signaltrong>introng>g pathway essential for vascular developent. Mutations trong>introng> this gene are one cause of cerebral cavernous malformations, which are vascular malformations that cause seizures and cerebral hemorrhages. Multiple alternatively spliced variants, encodtrong>introng>g the same protetrong>introng>, have been identified. [provided by RefSeq, Jul 2008]
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programmed cell death 11
PDCD11 is a NF-kappa-B (NFKB1; 164011)-btrong>introng>dtrong>introng>g protetrong>introng> that colocalizes with U3 RNA (MIM 180710) trong>introng> the nucleolus and is required for rRNA maturation and generation of 18S rRNA (Sweet et al., 2003 [PubMed 14624448]; Sweet et al., 2008 [PubMed 17654514]).[supplied by OMIM, Oct 2008]
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cell division cycle 37 homolog (S. cerevisiae) pseudogene
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MCF.2 cell ltrong>introng>e derived transformtrong>introng>g sequence
The oncogenic protetrong>introng> encoded by this gene is a guantrong>introng>e nucleotide exchange factor (GEF) that exerts control over some members of the Rho family of small GTPases. Several transcript variants encodtrong>introng>g different isoforms have been found for this gene. These isoforms exhibit different expression patterns and varytrong>introng>g levels of GEF activity.[provided by RefSeq, Jan 2010]
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cell adhesion associated, oncogene regulated
This gene encodes a cell surface trong>receptortrong> that is a member of the immunoglobultrong>introng> superfamily. The encoded protetrong>introng> contatrong>introng>s three fibronecttrong>introng> type III domatrong>introng>s and five immunoglobultrong>introng>-like C2-type domatrong>introng>s. This protetrong>introng> is a member of a cell-surface trong>receptortrong> complex that mediates cell-cell trong>introng>teractions between muscle precursor cells and positively regulates myogenesis. [provided by RefSeq, Aug 2011]
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pancreatic progenitor cell differentiation and proliferation factor
Predicted to be trong>introng>volved trong>introng> cell differentiation. Predicted to act upstream of or withtrong>introng> TORC1 signaltrong>introng>g and liver development. Located trong>introng> mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]
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cell division cycle 20 pseudogene 1
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programmed cell death 5 pseudogene 1
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programmed cell death 5 pseudogene 2
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LIM and senescent cell antigen-like domatrong>introng>s 2
This gene encodes a member of a small family of focal adhesion protetrong>introng>s which trong>introng>teracts with ILK (trong>introng>tegrtrong>introng>-ltrong>introng>ked ktrong>introng>ase), a protetrong>introng> which effects protetrong>introng>-protetrong>introng> trong>introng>teractions with the extraceullar matrix. The encoded protetrong>introng> has five LIM domatrong>introng>s, each domatrong>introng> formtrong>introng>g two ztrong>introng>c ftrong>introng>gers, which permit trong>introng>teractions which regulate cell shape and migration. A pseudogene of this gene is located on chromosome 4. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
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LIM and senescent cell antigen-like domatrong>introng>s 3
Predicted to enable metal ion btrong>introng>dtrong>introng>g activity. Predicted to be located trong>introng> cytoplasm; focal adhesion; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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LIM and senescent cell antigen-like domatrong>introng>s 1
The protetrong>introng> encoded by this gene is an adaptor protetrong>introng> which contatrong>introng>s five LIM domatrong>introng>s, or double ztrong>introng>c ftrong>introng>gers. The protetrong>introng> is likely trong>introng>volved trong>introng> trong>introng>tegrtrong>introng> signaltrong>introng>g through its LIM domatrong>introng>-mediated trong>introng>teraction with trong>introng>tegrtrong>introng>-ltrong>introng>ked ktrong>introng>ase, found trong>introng> focal adhesion plaques. It is also thought to act as a bridge ltrong>introng>ktrong>introng>g trong>introng>tegrtrong>introng>-ltrong>introng>ked ktrong>introng>ase to NCK adaptor protetrong>introng> 2, which is trong>introng>volved trong>introng> growth factor trong>receptortrong> ktrong>introng>ase signaltrong>introng>g pathways. Its localization to the periphery of spreadtrong>introng>g cells also suggests that this protetrong>introng> may play a role trong>introng> trong>introng>tegrtrong>introng>-mediated cell adhesion or spreadtrong>introng>g. Several transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
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vegetative cell wall protetrong>introng> gp1-like
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biorientation of chromosomes trong>introng> cell division 1
Enables protetrong>introng> phosphatase 2A btrong>introng>dtrong>introng>g activity and protetrong>introng> phosphatase trong>introng>hibitor activity. trong>Introng>volved trong>introng> mitotic sister chromatid biorientation; mitotic sister chromatid cohesion, centromeric; and protetrong>introng> localization to chromosome, centromeric region. Located trong>introng> centrosome; sptrong>introng>dle microtubule; and sptrong>introng>dle pole. Part of Set1C/COMPASS complex and outer ktrong>introng>etochore. [provided by Alliance of Genome Resources, Mar 2025]
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V-set domatrong>introng> contatrong>introng>trong>introng>g T cell activation trong>introng>hibitor 1
This gene encodes a protetrong>introng> belongtrong>introng>g to the B7 costimulatory protetrong>introng> family. Protetrong>introng>s trong>introng> this family are present on the surface of antigen-presenttrong>introng>g cells and trong>introng>teract with ligand bound to trong>receptortrong>s on the surface of T cells. Studies have shown that high levels of the encoded protetrong>introng> has been correlated with tumor progression. A pseudogene of this gene is located on chromosome 20. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
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cerebral endothelial cell adhesion molecule
Enables identical protetrong>introng> btrong>introng>dtrong>introng>g activity. Acts upstream of or withtrong>introng> cell adhesion. Predicted to be located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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vascular cell adhesion molecule 1
This gene is a member of the Ig superfamily and encodes a cell surface sialoglycoprotetrong>introng> expressed by cytoktrong>introng>e-activated endothelium. This type I membrane protetrong>introng> mediates leukocyte-endothelial cell adhesion and signal transduction, and may play a role trong>introng> the development of artherosclerosis and rheumatoid arthritis. Three alternatively spliced transcripts encodtrong>introng>g different isoforms have been described for this gene. [provided by RefSeq, Dec 2010]
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lymphoktrong>introng>e-activated killer cell ligand
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nitric oxide synthase 3 (endothelial cell)
Nitric oxide is a reactive free radical which acts as a biologic mediator trong>introng> several processes, trong>introng>cludtrong>introng>g neurotransmission and antimicrobial and antitumoral activities. Nitric oxide is synthesized from L-argtrong>introng>trong>introng>e by nitric oxide synthases. Variations trong>introng> this gene are associated with susceptibility to coronary spasm. Alternative splictrong>introng>g and the use of alternative promoters results trong>introng> multiple transcript variants. [provided by RefSeq, Oct 2016]
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upregulator of cell proliferation
URG4 is upregulated trong>introng> the presence of hepatitis B virus (HBV)-encoded X antigen (HBxAg) and may contribute to the development of hepatocellular carctrong>introng>oma by promottrong>introng>g hepatocellular growth and survival (Tufan et al., 2002 [PubMed 12082552]).[supplied by OMIM, Mar 2008]
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small cell adhesion glycoprotetrong>introng>
Located trong>introng> cell junction; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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speedy/RINGO cell cycle regulator family member E15, pseudogene
Predicted to enable protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity. [provided by Alliance of Genome Resources, Mar 2025]
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neural cell adhesion molecule 1
This gene encodes a cell adhesion protetrong>introng> which is a member of the immunoglobultrong>introng> superfamily. The encoded protetrong>introng> is trong>introng>volved trong>introng> cell-to-cell trong>introng>teractions as well as cell-matrix trong>introng>teractions durtrong>introng>g development and differentiation. The encoded protetrong>introng> plays a role trong>introng> the development of the nervous system by regulattrong>introng>g neurogenesis, neurite outgrowth, and cell migration. This protetrong>introng> is also trong>introng>volved trong>introng> the expansion of T lymphocytes, B lymphocytes and natural killer (NK) cells which play an important role trong>introng> immune surveillance. This protetrong>introng> plays a role trong>introng> signal transduction by trong>introng>teracttrong>introng>g with fibroblast growth factor trong>receptortrong>s, N-cadhertrong>introng> and other components of the extracellular matrix and by triggertrong>introng>g signalltrong>introng>g cascades trong>introng>volvtrong>introng>g FYN-focal adhesion ktrong>introng>ase (FAK), mitogen-activated protetrong>introng> ktrong>introng>ase (MAPK), and phosphatidyltrong>introng>ositol 3-ktrong>introng>ase (PI3K). One promtrong>introng>ent isoform of this gene, cell surface molecule CD56, plays a role trong>introng> several myeloproliferative disorders such as acute myeloid leukemia and differential expression of this gene is associated with differential disease progression. For example, trong>introng>creased expression of CD56 is correlated with lower survival trong>introng> acute myeloid leukemia patients whereas trong>introng>creased severity of COVID-19 is correlated with decreased abundance of CD56-expresstrong>introng>g NK cells trong>introng> peripheral blood. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g disttrong>introng>ct protetrong>introng> isoforms. [provided by RefSeq, Aug 2020]
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neural cell adhesion molecule 2
The protetrong>introng> encoded by this gene belongs to the immunoglobultrong>introng> superfamily. It is a type I membrane protetrong>introng> and may function trong>introng> selective fasciculation and zone-to-zone projection of the primary olfactory axons. [provided by RefSeq, Jul 2008]
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cell division cycle 27 pseudogene 7
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cell division cycle protetrong>introng> 27 homolog pseudogene
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cell division cycle 25C
This gene encodes a conserved protetrong>introng> that plays a key role trong>introng> the regulation of cell division. The encoded protetrong>introng> directs dephosphorylation of cycltrong>introng> B-bound CDC2 and triggers entry trong>introng>to mitosis. It also suppresses p53-trong>introng>duced growth arrest. Multiple alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Dec 2015]
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cell division cycle 25B
CDC25B is a member of the CDC25 family of phosphatases. CDC25B activates the cycltrong>introng> dependent ktrong>introng>ase CDC2 by removtrong>introng>g two phosphate groups and it is required for entry trong>introng>to mitosis. CDC25B shuttles between the nucleus and the cytoplasm due to nuclear localization and nuclear export signals. The protetrong>introng> is nuclear trong>introng> the M and G1 phases of the cell cycle and moves to the cytoplasm durtrong>introng>g S and G2. CDC25B has oncogenic properties, although its role trong>introng> tumor formation has not been determtrong>introng>ed. Multiple transcript variants for this gene exist. [provided by RefSeq, Jul 2008]
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cell division cycle 25A
CDC25A is a member of the CDC25 family of phosphatases. CDC25A is required for progression from G1 to the S phase of the cell cycle. It activates the cycltrong>introng>-dependent ktrong>introng>ase CDC2 by removtrong>introng>g two phosphate groups. CDC25A is specifically degraded trong>introng> response to DNA damage, which prevents cells with chromosomal abnormalities from progresstrong>introng>g through cell division. CDC25A is an oncogene, although its exact role trong>introng> oncogenesis has not been demonstrated. Two transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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cell division cycle 27 pseudogene 2
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cell division cycle 27 pseudogene 3
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cell division cycle 27 pseudogene 1
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cell division cycle 27 pseudogene 6
|
cell division cycle 27 pseudogene 4
|
cell division cycle 27 pseudogene 5
|
cell division cycle 27 pseudogene 8
|
cell division cycle 27 pseudogene 9
|
speedy/RINGO cell cycle regulator family member E2B
Predicted to enable protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity. [provided by Alliance of Genome Resources, Mar 2025]
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hepatic and glial cell adhesion molecule
The protetrong>introng> encoded by this gene is a strong>introng>gle-pass type I membrane protetrong>introng> that localizes to the cytoplasmic side of the cell membrane. The encoded protetrong>introng> acts as a homodimer and is trong>introng>volved trong>introng> cell motility and cell-matrix trong>introng>teractions. The expression of this gene is downregulated or undetectable trong>introng> many cancer cell ltrong>introng>es, so this may be a tumor suppressor gene. [provided by RefSeq, Jul 2011]
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cell division cycle 27
The protetrong>introng> encoded by this gene shares strong similarity with Saccharomyces cerevisiae protetrong>introng> Cdc27, and the gene product of Schizosaccharomyces pombe nuc 2. This protetrong>introng> is a component of the anaphase-promottrong>introng>g complex (APC), which is composed of eight protetrong>introng> subunits and is highly conserved trong>introng> eukaryotic cells. This complex catalyzes the formation of cycltrong>introng> B-ubiquittrong>introng> conjugate, which is responsible for the ubiquittrong>introng>-mediated proteolysis of B-type cycltrong>introng>s. The protetrong>introng> encoded by this gene and three other members of the APC complex contatrong>introng> tetratricopeptide (TPR) repeats, which are important for protetrong>introng>-protetrong>introng> trong>introng>teractions. This protetrong>introng> was shown to trong>introng>teract with mitotic checkpotrong>introng>t protetrong>introng>s trong>introng>cludtrong>introng>g Mad2, p55CDC and BUBR1, and it may thus be trong>introng>volved trong>introng> controlltrong>introng>g the timtrong>introng>g of mitosis. Alternative splictrong>introng>g of this gene results trong>introng> multiple transcript variants. Related pseudogenes have been identified on chromosomes 2, 22 and Y. [provided by RefSeq, May 2014]
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cell division cycle 26
The protetrong>introng> encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc26, a component of cell cycle anaphase-promottrong>introng>g complex (APC). APC is composed of a group of highly conserved protetrong>introng>s and functions as a cell cycle-regulated ubiquittrong>introng>-protetrong>introng> ligase. APC thus is responsible for the cell cycle regulated proteolysis of various protetrong>introng>s. [provided by RefSeq, Jul 2008]
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cell division cycle 20
CDC20 appears to act as a regulatory protetrong>introng> trong>introng>teracttrong>introng>g with several other protetrong>introng>s at multiple potrong>introng>ts trong>introng> the cell cycle. It is required for two microtubule-dependent processes, nuclear movement prior to anaphase and chromosome separation. [provided by RefSeq, Jul 2008]
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speedy/RINGO cell cycle regulator family member E8, pseudogene
Enables acetylcholtrong>introng>e trong>receptortrong> regulator activity. [provided by Alliance of Genome Resources, Mar 2025]
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neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquittrong>introng> protetrong>introng> ligase
This gene encodes a member of the Nedd4 family of HECT domatrong>introng> E3 ubiquittrong>introng> ligases. HECT domatrong>introng> E3 ubiquittrong>introng> ligases transfer ubiquittrong>introng> from E2 ubiquittrong>introng>-conjugattrong>introng>g enzymes to protetrong>introng> substrates, thus targettrong>introng>g specific protetrong>introng>s for lysosomal degradation. The encoded protetrong>introng> mediates the ubiquittrong>introng>ation of multiple target substrates and plays a critical role trong>introng> epithelial sodium transport by regulattrong>introng>g the cell surface expression of the epithelial sodium channel, ENaC. Strong>introng>gle nucleotide polymorphisms trong>introng> this gene may be associated with essential hypertension. Alternatively spliced transcript variants encodtrong>introng>g multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
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Thy-1 cell surface antigen
This gene encodes a cell surface glycoprotetrong>introng> and member of the immunoglobultrong>introng> superfamily of protetrong>introng>s. The encoded protetrong>introng> is trong>introng>volved trong>introng> cell adhesion and cell communication trong>introng> numerous cell types, but particularly trong>introng> cells of the immune and nervous systems. The encoded protetrong>introng> is widely used as a marker for hematopoietic stem cells. This gene may function as a tumor suppressor trong>introng> nasopharyngeal carctrong>introng>oma. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jul 2015]
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defender agatrong>introng>st cell death 1 pseudogene 1
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Pseudohyperkalemia, familial, 2, due to red cell leak
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cytoktrong>introng>e-dependent hematopoietic cell ltrong>introng>ker
MIST is a member of the SLP76 family of adaptors (see LCP2, MIM 601603; BLNK, MIM 604515). MIST plays a role trong>introng> the regulation of immunotrong>receptortrong> signaltrong>introng>g, trong>introng>cludtrong>introng>g PLC-gamma (PLCG1; MIM 172420)-mediated B cell antigen trong>receptortrong> (BCR) signaltrong>introng>g and FC-epsilon R1 (see FCER1A, MIM 147140)-mediated mast cell degranulation (Cao et al., 1999 [PubMed 10562326]; Goitsuka et al., 2000, 2001 [PubMed 10744659] [PubMed 11463797]).[supplied by OMIM, Mar 2008]
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Thyroid carctrong>introng>oma, nonmedullary, with cell oxyphilia
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cell division cycle 14C
This gene represents a retrogene of cell division cycle 14B (CDC14B), which is located on chromosome 9. The trong>introng>trons trong>introng> the codtrong>introng>g sequence have been processed out relative to the CDC14B locus, but there is an trong>introng>tact open readtrong>introng>g frame that is misstrong>introng>g only some sequence at the N-termtrong>introng>us, trong>introng>cludtrong>introng>g the nuclear localiztion signal, relative to protetrong>introng>s encoded by the CDC14B gene. There is a difference trong>introng> the subcellular localization of the protetrong>introng> encoded by this gene, relative to its parental gene product. While the parental gene product displays microtubular localization, GFP chimeras of the protetrong>introng> encoded by this gene localize to the endoplasmic reticulum, trong>introng>dicattrong>introng>g a possible new functional role for this gene. [provided by RefSeq, Nov 2017]
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cell division cycle 14B
The protetrong>introng> encoded by this gene is a member of the dual specificity protetrong>introng> tyrostrong>introng>e phosphatase family. This protetrong>introng> is highly similar to Saccharomyces cerevisiae Cdc14, a protetrong>introng> tyrostrong>introng>e phosphatase trong>introng>volved trong>introng> the exit of cell mitosis and trong>introng>itiation of DNA replication, which suggests the role trong>introng> cell cycle control. This protetrong>introng> has been shown to trong>introng>teract with and dephosphorylates tumor suppressor protetrong>introng> p53, and is thought to regulate the function of p53. Alternative splice of this gene results trong>introng> 3 transcript variants encodtrong>introng>g disttrong>introng>ct isoforms. [provided by RefSeq, Jul 2008]
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cell division cycle 14A
The protetrong>introng> encoded by this gene is a member of the dual specificity protetrong>introng> tyrostrong>introng>e phosphatase family. It is highly similar to Saccharomyces cerevisiae Cdc14, a protetrong>introng> tyrostrong>introng>e phosphatase trong>introng>volved trong>introng> the exit of cell mitosis and trong>introng>itiation of DNA replication, suggesttrong>introng>g a role trong>introng> cell cycle control. This protetrong>introng> has been shown to trong>introng>teract with, and dephosphorylate tumor suppressor protetrong>introng> p53, and is thought to regulate the function of p53. Alternative splictrong>introng>g of this gene results trong>introng> several transcript variants encodtrong>introng>g disttrong>introng>ct isoforms. [provided by RefSeq, Jul 2008]
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carctrong>introng>oembryonic antigen-related cell adhesion molecule 20
Predicted to enable protetrong>introng> tyrostrong>introng>e ktrong>introng>ase btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> regulation of immune system process and signal transduction. Predicted to be located trong>introng> apical plasma membrane and microvillus membrane. Predicted to be active trong>introng> cell surface and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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carctrong>introng>oembryonic antigen-related cell adhesion molecule 21
Predicted to be trong>introng>volved trong>introng> T cell activation and immune response. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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muctrong>introng> 4, cell surface associated pseudogene
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islet cell autoantigen 1, 69kDa pseudogene
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dendritic cell protetrong>introng> pseudogene
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islet cell autoantigen 1,69kDa-like
Predicted to enable protetrong>introng> domatrong>introng> specific btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> regulation of transport. Predicted to act upstream of or withtrong>introng> spermatid development. Predicted to be located trong>introng> acrosomal vesicle. Predicted to be active trong>introng> Golgi apparatus. [provided by Alliance of Genome Resources, Mar 2025]
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cell cycle control protetrong>introng> 50B-like
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speedy/RINGO cell cycle regulator family member E7, pseudogene
Predicted to enable protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity. [provided by Alliance of Genome Resources, Mar 2025]
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cell division cycle 23
The protetrong>introng> encoded by this gene shares strong similarity with Saccharomyces cerevisiae Cdc23, a protetrong>introng> essential for cell cycle progression through the G2/M transition. This protetrong>introng> is a component of anaphase-promottrong>introng>g complex (APC), which is composed of eight protetrong>introng> subunits and highly conserved trong>introng> eukaryotic cells. APC catalyzes the formation of cycltrong>introng> B-ubiquittrong>introng> conjugate that is responsible for the ubiquittrong>introng>-mediated proteolysis of B-type cycltrong>introng>s. This protetrong>introng> and 3 other members of the APC complex contatrong>introng> the TPR (tetratricopeptide repeat), a protetrong>introng> domatrong>introng> important for protetrong>introng>-protetrong>introng> trong>introng>teraction. [provided by RefSeq, Jul 2008]
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papillary renal cell carctrong>introng>oma (translocation-associated)
This gene encodes a protetrong>introng> that may play a role trong>introng> pre-mRNA splictrong>introng>g. Chromosomal translocations (X;1)(p11;q21) that result trong>introng> fusion of this gene to TFE3 (GeneID 7030) have been associated with papillary renal cell carctrong>introng>oma. A PRCC-TFE3 fusion protetrong>introng> is expressed trong>introng> affected carctrong>introng>omas and is likely associated with altered gene transactivation. This fusion protetrong>introng> has also been associated with disruption of the cell cycle.[provided by RefSeq, Aug 2010]
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V-set domatrong>introng> contatrong>introng>trong>introng>g T cell activation trong>introng>hibitor 1 pseudogene
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RCD1 required for cell differentiation1 homolog (S. pombe)
This gene encodes a member of the highly conserved RCD1 protetrong>introng> family. The encoded protetrong>introng> is a transcriptional cofactor and a core protetrong>introng> of the CCR4-NOT complex. It may be trong>introng>volved trong>introng> signal transduction as well as rettrong>introng>oic acid-regulated cell differentiation and development. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2012]
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neural precursor cell expressed, developmentally down-regulated 8 pseudogene
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biorientation of chromosomes trong>introng> cell division 1-like 2
Predicted to be trong>introng>volved trong>introng> cell division. Predicted to be located trong>introng> centrosome; cytoplasm; and ktrong>introng>etochore. [provided by Alliance of Genome Resources, Mar 2025]
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biorientation of chromosomes trong>introng> cell division 1-like 1
trong>Introng>volved trong>introng> DNA damage response and replication fork processtrong>introng>g. Located trong>introng> nucleoplasm. Part of Set1C/COMPASS complex. [provided by Alliance of Genome Resources, Mar 2025]
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proliferattrong>introng>g cell nuclear antigen pseudogene 2
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transcription factor 7 (T-cell specific, HMG-box)
This gene encodes a member of the T-cell factor/lymphoid enhancer-btrong>introng>dtrong>introng>g factor family of high mobility group (HMG) box transcriptional activators. This gene is expressed predomtrong>introng>antly trong>introng> T-cells and plays a critical role trong>introng> natural killer cell and trong>introng>nate lymphoid cell development. The encoded protetrong>introng> forms a complex with trong>betatrong>-catentrong>introng> and activates transcription through a Wnt/trong>betatrong>-catentrong>introng> signaltrong>introng>g pathway. Mice with a knockout of this gene are viable and fertile, but display a block trong>introng> T-lymphocyte differentiation. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. Naturally-occurrtrong>introng>g isoforms lacktrong>introng>g the N-termtrong>introng>al trong>betatrong>-catentrong>introng> trong>introng>teraction domatrong>introng> may act as domtrong>introng>ant negative regulators of Wnt signaltrong>introng>g. [provided by RefSeq, Oct 2016]
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cell division cycle 42 pseudogene
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cell division cycle 42 pseudogene
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proteoglycan 2, bone marrow (natural killer cell activator, eostrong>introng>ophil granule major basic protetrong>introng>)
The protetrong>introng> encoded by this gene is the predomtrong>introng>ant constituent of the crystalltrong>introng>e core of the eostrong>introng>ophil granule. High levels of the proform of this protetrong>introng> are also present trong>introng> placenta and pregnancy serum, where it exists as a complex with several other protetrong>introng>s trong>introng>cludtrong>introng>g pregnancy-associated plasma protetrong>introng> A (PAPPA), angiotenstrong>introng>ogen (AGT), and C3dg. This protetrong>introng> may be trong>introng>volved trong>introng> antiparasitic defense mechanisms as a cytotoxtrong>introng> and helmtrong>introng>thotoxtrong>introng>, and trong>introng> immune hypersensitivity reactions. The encoded protetrong>introng> contatrong>introng>s a peptide that displays potent antimicrobial activity agatrong>introng>st Gram-positive bacteria, Gram-negative bacteria, and fungi. It is directly implicated trong>introng> epithelial cell damage, exfoliation, and bronchospasm trong>introng> allergic diseases. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]
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mucosal vascular addresstrong>introng> cell adhesion molecule 1
The protetrong>introng> encoded by this gene is an endothelial cell adhesion molecule that trong>introng>teracts preferentially with the leukocyte trong>betatrong>7 trong>introng>tegrtrong>introng> LPAM-1 (alpha4trong>betatrong>7), L-selecttrong>introng>, and VLA-4 (alpha4trong>betatrong>1) on myeloid cells to direct leukocytes trong>introng>to mucosal and trong>introng>flamed tissues. It is a member of the immunoglobultrong>introng> family and is similar to ICAM1 and VCAM1. At least seven alternatively spliced transcripts encodtrong>introng>g different protetrong>introng> isoforms have been found for this gene, but the full-length nature of some variants has not been determtrong>introng>ed. [provided by RefSeq, Jul 2008]
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programmed cell death 10 pseudogene
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trong>introng>testtrong>introng>al cell (MAK-like) ktrong>introng>ase
Eukaryotic protetrong>introng> ktrong>introng>ases are enzymes that belong to a very extensive family of protetrong>introng>s which share a conserved catalytic core common with both sertrong>introng>e/threontrong>introng>e and tyrostrong>introng>e protetrong>introng> ktrong>introng>ases. This gene encodes an trong>introng>testtrong>introng>al sertrong>introng>e/threontrong>introng>e ktrong>introng>ase harbortrong>introng>g a dual phosphorylation site found trong>introng> mitogen-activattrong>introng>g protetrong>introng> (MAP) ktrong>introng>ases. The protetrong>introng> localizes to the trong>introng>testtrong>introng>al crypt region and is thought to be important trong>introng> trong>introng>testtrong>introng>al epithelial cell proliferation and differentiation. Alternative splictrong>introng>g has been observed at this locus and two variants, encodtrong>introng>g the same isoform, have been identified. [provided by RefSeq, Jul 2008]
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zyg-11 family member A, cell cycle regulator pseudogene 1
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neuroepithelial cell transformtrong>introng>g 1
This gene is part of the family of Rho guantrong>introng>e nucleotide exchange factors. Members of this family activate Rho protetrong>introng>s by catalyztrong>introng>g the exchange of GDP for GTP. The protetrong>introng> encoded by this gene trong>introng>teracts with RhoA withtrong>introng> the cell nucleus and may play a role trong>introng> repairtrong>introng>g DNA damage after ioniztrong>introng>g radiation. Pseudogenes of this gene are located on the long arms of chromosomes 1, 7 and 18. Alternative splictrong>introng>g results trong>introng> multiple transcript variants that encode different protetrong>introng> isoforms. [provided by RefSeq, Jul 2012]
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malignant T cell amplified sequence 2, pseudogene
This locus represents a retrogene copy of MCTS1 (GeneID:28985) and contatrong>introng>s an ORF similar to that parent gene. This locus is situated trong>introng> a differentially methylated region (DMR) and transcripts trong>introng> this region are imprtrong>introng>ted. [provided by RefSeq, Nov 2021]
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Down syndrome cell adhesion molecule
This gene is a member of the immunoglobultrong>introng> superfamily of cell adhesion molecules (Ig-CAMs), and is trong>introng>volved trong>introng> human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encodtrong>introng>g a similar Ig-CAM protetrong>introng> is located on chromosome 11. Alternatively spliced transcript variants encodtrong>introng>g multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]
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muctrong>introng> 4, cell surface associated pseudogene
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muctrong>introng> 4, cell surface associated pseudogene
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muctrong>introng> 4, cell surface associated pseudogene
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suppressor of cancer cell trong>introng>vasion
This gene encodes a regulator of cell migration. The encoded protetrong>introng> appears to function trong>introng> the RhoA (ras homolog gene family, member A)-Dia1 (diaphanous homolog 1) signal transduction pathway. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
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sidekick cell adhesion molecule 1
The protetrong>introng> encoded by this gene is a member of the immunoglobultrong>introng> superfamily. The protetrong>introng> contatrong>introng>s six immunoglobultrong>introng>-like domatrong>introng>s and thirteen fibronecttrong>introng> type III domatrong>introng>s. Fibronecttrong>introng> type III domatrong>introng>s are present trong>introng> both extracellular and trong>introng>tracellular protetrong>introng>s and tandem repeats are known to contatrong>introng> btrong>introng>dtrong>introng>g sites for DNA, hepartrong>introng> and the cell surface. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jul 2016]
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sidekick cell adhesion molecule 2
The protetrong>introng> encoded by this gene is a member of the immunoglobultrong>introng> superfamily. The protetrong>introng> contatrong>introng>s two immunoglobultrong>introng> domatrong>introng>s and thirteen fibronecttrong>introng> type III domatrong>introng>s. Fibronecttrong>introng> type III domatrong>introng>s are present trong>introng> both extracellular and trong>introng>tracellular protetrong>introng>s and tandem repeats are known to contatrong>introng> btrong>introng>dtrong>introng>g sites for DNA, hepartrong>introng> and the cell surface. This protetrong>introng>, and a homologous mouse sequence, are very similar to the Drosophila sidekick gene product but the specific function of this superfamily member is not yet known. Evidence for alternative splictrong>introng>g at this gene locus has been observed but the full-length nature of additional variants has not yet been determtrong>introng>ed. [provided by RefSeq, Jul 2008]
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pre-B-cell leukemia homeobox 4
This gene encodes a member of the pre-B cell leukemia transcription factor family. These protetrong>introng>s are homeobox protetrong>introng>s that play critical roles trong>introng> embryonic development and cellular differentiation both as Hox cofactors and through Hox-trong>introng>dependent pathways. The encoded protetrong>introng> contatrong>introng>s a homeobox DNA-btrong>introng>dtrong>introng>g domatrong>introng>, but specific functions of the protetrong>introng> have not been determtrong>introng>ed. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2011]
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pre-B-cell leukemia homeobox 2
This gene encodes a ubiquitously expressed member of the TALE/PBX homeobox family. It was identified by its similarity to a homeobox gene which is trong>introng>volved trong>introng> t(1;19) translocation trong>introng> acute pre-B-cell leukemias. This protetrong>introng> is a transcriptional activator which btrong>introng>ds to the TLX1 promoter. The gene is located withtrong>introng> the major histocompatibility complex (MHC) on chromosome 6. [provided by RefSeq, Jul 2008]
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pre-B-cell leukemia homeobox 3
Predicted to enable DNA-btrong>introng>dtrong>introng>g transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g eye development; nervous system development; and regulation of transcription by RNA polymerase II. Predicted to act upstream of or withtrong>introng> several processes, trong>introng>cludtrong>introng>g adult locomotory behavior; dorsal sptrong>introng>al cord development; and regulation of respiratory gaseous exchange by nervous system process. Predicted to be located trong>introng> chromattrong>introng>. Predicted to be part of transcription regulator complex. Predicted to be active trong>introng> nucleus. Biomarker of esophagus squamous cell carctrong>introng>oma. [provided by Alliance of Genome Resources, Mar 2025]
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pre-B-cell leukemia homeobox 1
This gene encodes a nuclear protetrong>introng> that belongs to the PBX homeobox family of transcriptional factors. Studies trong>introng> mice suggest that this gene may be trong>introng>volved trong>introng> the regulation of osteogenesis and required for skeletal patterntrong>introng>g and programmtrong>introng>g. A chromosomal translocation, t(1;19) trong>introng>volvtrong>introng>g this gene and TCF3/E2A gene, is associated with pre-B-cell acute lymphoblastic leukemia. The resulttrong>introng>g fusion protetrong>introng>, trong>introng> which the DNA btrong>introng>dtrong>introng>g domatrong>introng> of E2A is replaced by the DNA btrong>introng>dtrong>introng>g domatrong>introng> of this protetrong>introng>, transforms cells by constitutively activattrong>introng>g transcription of genes regulated by the PBX protetrong>introng> family. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jun 2017]
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Tax1 (human T-cell leukemia virus type I) btrong>introng>dtrong>introng>g protetrong>introng> 1
This gene encodes a HTLV-1 tax1 btrong>introng>dtrong>introng>g protetrong>introng>. The encoded protetrong>introng> trong>introng>teracts with TNFAIP3, and trong>introng>hibits TNF-trong>introng>duced apoptosis by mediattrong>introng>g the TNFAIP3 anti-apoptotic activity. Degradation of this protetrong>introng> by caspase-3-like family protetrong>introng>s is associated with apoptosis trong>introng>duced by TNF. This protetrong>introng> may also have a role trong>introng> the trong>introng>hibition of trong>introng>flammatory signaltrong>introng>g pathways. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene.[provided by RefSeq, May 2011]
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Tax1 (human T-cell leukemia virus type I) btrong>introng>dtrong>introng>g protetrong>introng> 3
This gene encodes a small, highly conserved protetrong>introng> with a strong>introng>gle PDZ domatrong>introng>. PDZ (PSD-95/Discs large/ZO-1 homologous) domatrong>introng>s promote protetrong>introng>-protetrong>introng> trong>introng>teractions that affect cell signaltrong>introng>g, adhesion, protetrong>introng> scaffoldtrong>introng>g, and trong>receptortrong> and ion transporter functions. The encoded protetrong>introng> trong>introng>teracts with a large number of target protetrong>introng>s that play roles trong>introng> signaltrong>introng>g pathways; for example, it trong>introng>teracts with Rho A and glutamtrong>introng>ase L and also acts as a negative regulator of the Wnt/trong>betatrong>-catentrong>introng> signaltrong>introng>g pathway. This protetrong>introng> was first identified as btrong>introng>dtrong>introng>g to the T-cell leukaemia virus (HTLV1) Tax oncoprotetrong>introng>. Overexpression of this gene has been implicated trong>introng> altered cancer cell adhesion, migration and metastasis. The encoded protetrong>introng> also modulates the localization and density of trong>introng>wardly rectifytrong>introng>g potassium channel 2.3 (Kir2.3). To date, this protetrong>introng> has been shown to play a role trong>introng> cell proliferation, development, stress response, and polarization. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g disttrong>introng>ct isoforms. [provided by RefSeq, Apr 2017]
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cell division cycle 73
This gene encodes a tumor suppressor that is trong>introng>volved trong>introng> transcriptional and post-transcriptional control pathways. The protetrong>introng> is a component of the the PAF protetrong>introng> complex, which associates with the RNA polymerase II subunit POLR2A and with a histone methyltransferase complex. This protetrong>introng> appears to facilitate the association of 3' mRNA processtrong>introng>g factors with actively-transcribed chromattrong>introng>. Mutations trong>introng> this gene have been ltrong>introng>ked to hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism, and parathyroid carctrong>introng>oma. [provided by RefSeq, Jul 2009]
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T cell activation trong>introng>hibitor, mitochondrial
Located trong>introng> mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]
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angio-associated, migratory cell protetrong>introng>
The gene is a member of the immunoglobultrong>introng> superfamily. The encoded protetrong>introng> is associated with angiogenesis, with potential roles trong>introng> endothelial tube formation and the migration of endothelial cells. It may also regulate smooth muscle cell migration via the RhoA pathway. The encoded protetrong>introng> can btrong>introng>d to hepartrong>introng> and may mediate hepartrong>introng>-sensitive cell adhesion. [provided by RefSeq, Oct 2014]
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cell division cycle 26 pseudogene 1
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par-6 family cell polarity regulator gamma
Predicted to be trong>introng>volved trong>introng> centrosome cycle; establishment or matrong>introng>tenance of epithelial cell apical/basal polarity; and regulation of cellular localization. Predicted to be located trong>introng> cytosol and plasma membrane. Predicted to be part of PAR polarity complex. Predicted to be active trong>introng> apical plasma membrane; cell cortex; and nucleus. [provided by Alliance of Genome Resources, Mar 2025]
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par-6 family cell polarity regulator alpha
This gene is a member of the PAR6 family and encodes a protetrong>introng> with a PSD95/Discs-large/ZO1 (PDZ) domatrong>introng> and a semi-Cdc42/Rac trong>introng>teractive btrong>introng>dtrong>introng>g (CRIB) domatrong>introng>. This cell membrane protetrong>introng> is trong>introng>volved trong>introng> asymmetrical cell division and cell polarization processes as a member of a multi-protetrong>introng> complex. The protetrong>introng> also has a role trong>introng> the epithelial-to-mesenchymal transition (EMT) that characterizes the trong>introng>vasive phenotype associated with metastatic carctrong>introng>omas. Alternate transcriptional splice variants, encodtrong>introng>g different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
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muctrong>introng> 20, cell surface associated
This gene encodes a member of the muctrong>introng> protetrong>introng> family. Muctrong>introng>s are high molecular weight glycoprotetrong>introng>s secreted by many epithelial tissues to form an trong>introng>soluble mucous barrier. The C-termtrong>introng>us of this family member associates with the multifunctional docktrong>introng>g site of the MET proto-oncogene and suppresses activation of some downstream MET signaltrong>introng>g cascades. The protetrong>introng> features a muctrong>introng> tandem repeat domatrong>introng> that varies between two and six copies trong>introng> most trong>introng>dividuals. Multiple variants encodtrong>introng>g different isoforms have been found for this gene. A related pseudogene, which is also located on chromosome 3, has been identified. [provided by RefSeq, Apr 2014]
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muctrong>introng> 21, cell surface associated
This gene encodes a large membrane-bound glycoprotetrong>introng> which is a member of the muctrong>introng> family. Muctrong>introng>s are O-glycosylated protetrong>introng>s that play an essential role trong>introng> formtrong>introng>g protective mucous barriers on epithelial surfaces. These protetrong>introng>s also play a role trong>introng> trong>introng>tracellular signaltrong>introng>g. The encoded protetrong>introng> contatrong>introng>s an N-termtrong>introng>al signal sequence, an extracellular muctrong>introng> domatrong>introng>, a stem domatrong>introng>, a transmembrane domatrong>introng>, and a C-termtrong>introng>al cytoplasmic tail domatrong>introng>. The muctrong>introng> domatrong>introng> contatrong>introng>s O-glycosylation sites and is polymorphic with isoforms contatrong>introng>trong>introng>g a variable number of nonidentical proltrong>introng>e-, threontrong>introng>e-, and sertrong>introng>e-rich tandem repeats of 15 amtrong>introng>o acids each. The aberrent expression of this gene is associated with lung adenocarctrong>introng>oma. [provided by RefSeq, May 2017]
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putative germ cell-specific gene 1-like protetrong>introng> 2
Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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trong>introng>ducible T-cell co-stimulator
The protetrong>introng> encoded by this gene belongs to the CD28 and CTLA-4 cell-surface trong>receptortrong> family. It forms homodimers and plays an important role trong>introng> cell-cell signaltrong>introng>g, immune responses, and regulation of cell proliferation. [provided by RefSeq, Jul 2008]
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epithelial cell adhesion molecule pseudogene
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cell division cycle associated 7 pseudogene
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speedy/RINGO cell cycle regulator family member E11
Enables acetylcholtrong>introng>e trong>receptortrong> regulator activity. [provided by Alliance of Genome Resources, Mar 2025]
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T-cell tumor trong>introng>vasion and metastasis 1
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stromal cell-derived factor 2 pseudogene
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cell adhesion molecule L1-like
The protetrong>introng> encoded by this gene is a member of the L1 gene family of neural cell adhesion molecules. It is a neural recognition molecule that may be trong>introng>volved trong>introng> signal transduction pathways. The deletion of one copy of this gene may be responsible for mental defects trong>introng> patients with 3p- syndrome. This protetrong>introng> may also play a role trong>introng> the growth of certatrong>introng> cancers. Alternate splictrong>introng>g results trong>introng> both codtrong>introng>g and non-codtrong>introng>g variants. [provided by RefSeq, Nov 2011]
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Basal cell carctrong>introng>oma, susceptibility to, 4
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cell division cycle protetrong>introng> 27 homolog pseudogene
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prostate stem cell antigen
This gene encodes a glycosylphosphatidyltrong>introng>ositol-anchored cell membrane glycoprotetrong>introng>. trong>Introng> addition to betrong>introng>g highly expressed trong>introng> the prostate it is also expressed trong>introng> the bladder, placenta, colon, kidney, and stomach. This gene is up-regulated trong>introng> a large proportion of prostate cancers and is also detected trong>introng> cancers of the bladder and pancreas. This gene trong>introng>cludes a polymorphism that results trong>introng> an upstream start codon trong>introng> some trong>introng>dividuals; this polymorphism is thought to be associated with a risk for certatrong>introng> gastric and bladder cancers. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Feb 2010]
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activated leukocyte cell adhesion molecule
This gene encodes activated leukocyte cell adhesion molecule (ALCAM), also known as CD166 (cluster of differentiation 166), which is a member of a subfamily of immunoglobultrong>introng> trong>receptortrong>s with five immunoglobultrong>introng>-like domatrong>introng>s (VVC2C2C2) trong>introng> the extracellular domatrong>introng>. This protetrong>introng> btrong>introng>ds to T-cell differentiation antigene CD6, and is implicated trong>introng> the processes of cell adhesion and migration. Multiple alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found. [provided by RefSeq, Aug 2011]
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hematopoietic cell signal transducer
This gene encodes a transmembrane signaltrong>introng>g adaptor that contatrong>introng>s a YxxM motif trong>introng> its cytoplasmic domatrong>introng>. The encoded protetrong>introng> may form part of the immune recognition trong>receptortrong> complex with the C-type lecttrong>introng>-like trong>receptortrong> NKG2D. As part of this trong>receptortrong> complex, this protetrong>introng> may activate phosphatidyltrong>introng>ositol 3-ktrong>introng>ase dependent signaltrong>introng>g pathways through its trong>introng>tracytoplasmic YxxM motif. This trong>receptortrong> complex may have a role trong>introng> cell survival and proliferation by activation of NK and T cell responses. Alternative splictrong>introng>g results trong>introng> two transcript variants encodtrong>introng>g different isoforms. [provided by RefSeq, Jul 2008]
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stromal cell derived factor 4
This gene encodes a stromal cell derived factor that is a member of the CREC protetrong>introng> family. The encoded protetrong>introng> contatrong>introng>s six EF-hand motifs and calcium-btrong>introng>dtrong>introng>g motifs. This protetrong>introng> localizes to the Golgi lumen and may be trong>introng>volved trong>introng> regulattrong>introng>g calcium dependent cellular activities. [provided by RefSeq, Sep 2011]
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stromal cell-derived factor 2
The protetrong>introng> encoded by this gene is believed to be a secretory protetrong>introng>. It has regions of similarity to hydrophilic segments of yeast mannosyltransferases. Its expression is ubiquitous and the gene appears to be relatively conserved among mammals. Alternate splictrong>introng>g results trong>introng> both codtrong>introng>g and non-codtrong>introng>g variants. A pseudogene of this gene is located on chromosome 15. [provided by RefSeq, Dec 2011]
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natural killer cell granule protetrong>introng> 7
trong>Introng>volved trong>introng> defense response to protozoan. Located trong>introng> cytolytic granule membrane and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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germ cell associated 2 (hasptrong>introng>)
Enables ATP btrong>introng>dtrong>introng>g activity and histone H3T3 ktrong>introng>ase activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g mitotic sister chromatid cohesion; mitotic sptrong>introng>dle assembly checkpotrong>introng>t signaltrong>introng>g; and protetrong>introng> localization to chromosome, centromeric region. Located trong>introng> centrosome; nucleoplasm; and sptrong>introng>dle. [provided by Alliance of Genome Resources, Mar 2025]
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germ cell associated 1
Predicted to enable RNA polymerase btrong>introng>dtrong>introng>g activity. Predicted to be located trong>introng> endoplasmic reticulum membrane. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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platelet/endothelial cell adhesion molecule 1
The protetrong>introng> encoded by this gene is found on the surface of platelets, monocytes, neutrophils, and some types of T-cells, and makes up a large portion of endothelial cell trong>introng>tercellular junctions. The encoded protetrong>introng> is a member of the immunoglobultrong>introng> superfamily and is likely trong>introng>volved trong>introng> leukocyte migration, angiogenesis, and trong>introng>tegrtrong>introng> activation. [provided by RefSeq, May 2010]
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T-cell acute lymphocytic leukemia 1
Enables several functions, trong>introng>cludtrong>introng>g E-box btrong>introng>dtrong>introng>g activity; RNA polymerase II-specific DNA-btrong>introng>dtrong>introng>g transcription factor btrong>introng>dtrong>introng>g activity; and histone deacetylase btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g myeloid cell differentiation; positive regulation of cellular component organization; and positive regulation of erythrocyte differentiation. Located trong>introng> chromattrong>introng> and nucleoplasm. Part of transcription regulator complex. Implicated trong>introng> acute lymphoblastic leukemia. [provided by Alliance of Genome Resources, Mar 2025]
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T-cell acute lymphocytic leukemia 2
This trong>introng>tronless gene encodes a helix-loop-helix protetrong>introng>. Translocations between this gene on chromosome 9 and the T-cell trong>receptortrong> trong>betatrong>-trong>chatrong>introng>trong> locus on chromosome 7 have been associated with activation of the T-cell acute lymphocytic leukemia 2 gene and T-cell acute lymphoblastic leukemia. [provided by RefSeq, Mar 2009]
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cell division cycle associated 4 pseudogene 2
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pre-B-cell leukemia homeobox 2 pseudogene 1
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T-cell leukemia homeobox 1
This gene encodes a nuclear transcription factor that belongs to the NK-ltrong>introng>ked or NK-like (NKL) subfamily of homeobox genes. The encoded protetrong>introng> is required for normal development of the spleen durtrong>introng>g embryogenesis. This protetrong>introng> is also trong>introng>volved trong>introng> specification of neuronal cell fates. Ectopic expression of this gene due to chromosomal translocations is associated with certatrong>introng> T-cell acute lymphoblastic leukemias. Alternate splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Sep 2010]
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T-cell leukemia homeobox 2
This gene is a member of an orphan homeobox-contatrong>introng>trong>introng>g transcription factor family. Studies of the mouse ortholog have shown that the encoded protetrong>introng> is crucial for the development of the enteric nervous system; trong>introng> humans, loss-of-function may play a role trong>introng> tumorigenesis of gastrotrong>introng>testtrong>introng>al stromal tumors. [provided by RefSeq, May 2010]
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T-cell leukemia homeobox 3
The protetrong>introng> encoded by this gene is an orphan homeobox protetrong>introng> that encodes a DNA-btrong>introng>dtrong>introng>g nuclear transcription factor. A translocation [t(5;14)(q35;q32)] trong>introng>volvtrong>introng>g this gene is associated with T-cell acute lymphoblastic leukemia (T-ALL) trong>introng> children and young adults. [provided by RefSeq, Nov 2015]
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cell division cycle 37 pseudogene 1
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cell division cycle 37 pseudogene 2
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B-cell CLL/lymphoma 7C
This gene is identified by the similarity of its product to the N-termtrong>introng>al region of BCL7A protetrong>introng>. The BCL7A protetrong>introng> is encoded by the gene known to be directly trong>introng>volved trong>introng> a three-way gene translocation trong>introng> a Burkitt lymphoma cell ltrong>introng>e. The function of this gene has not yet been determtrong>introng>ed. Two transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
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B-cell CLL/lymphoma 7B
This gene encodes a member of the BCL7 family trong>introng>cludtrong>introng>g BCL7A, BCL7B and BCL7C protetrong>introng>s. This member is BCL7B, which contatrong>introng>s a region that is highly similar to the N-termtrong>introng>al segment of BCL7A or BCL7C protetrong>introng>s. The BCL7A protetrong>introng> is encoded by the gene known to be directly trong>introng>volved trong>introng> a three-way gene translocation trong>introng> a Burkitt lymphoma cell ltrong>introng>e. This gene is located at a chromosomal region commonly deleted trong>introng> Williams syndrome. This gene is highly conserved from C. elegans to human. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2010]
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B-cell CLL/lymphoma 7A
This gene is directly trong>introng>volved, with Myc and IgH, trong>introng> a three-way gene translocation trong>introng> a Burkitt lymphoma cell ltrong>introng>e. As a result of the gene translocation, the N-termtrong>introng>al region of the gene product is disrupted, which is thought to be related to the pathogenesis of a subset of high-grade B cell non-Hodgktrong>introng> lymphoma. The N-termtrong>introng>al segment trong>introng>volved trong>introng> the translocation trong>introng>cludes the region that shares a strong sequence similarity with those of BCL7B and BCL7C. Two transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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B-cell translocation gene 1 pseudogene 1
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myeltrong>introng>attrong>introng>g Schwann cell element
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glial cell derived neurotrophic factor
This gene encodes a secreted ligand of the TGF-trong>betatrong> (transformtrong>introng>g growth factor-trong>betatrong>) superfamily of protetrong>introng>s. Ligands of this family btrong>introng>d various TGF-trong>betatrong> trong>receptortrong>s leadtrong>introng>g to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotetrong>introng> is proteolytically processed to generate each subunit of the disulfide-ltrong>introng>ked homodimer. The recombtrong>introng>ant form of this protetrong>introng>, a highly conserved neurotrophic factor, was shown to promote the survival and differentiation of dopamtrong>introng>ergic neurons trong>introng> culture, and was able to prevent apoptosis of motor neurons trong>introng>duced by axotomy. This protetrong>introng> is a ligand for the product of the RET (rearranged durtrong>introng>g transfection) protooncogene. Mutations trong>introng> this gene may be associated with Hirschsprung disease and Tourette syndrome. This gene encodes multiple protetrong>introng> isoforms that may undergo similar proteolytic processtrong>introng>g. [provided by RefSeq, Aug 2016]
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cell division cycle 45
The protetrong>introng> encoded by this gene was identified by its strong similarity with Saccharomyces cerevisiae Cdc45, an essential protetrong>introng> required to the trong>introng>itiation of DNA replication. Cdc45 is a member of the highly conserved multiprotetrong>introng> complex trong>introng>cludtrong>introng>g Cdc6/Cdc18, the mtrong>introng>ichromosome matrong>introng>tenance protetrong>introng>s (MCMs) and DNA polymerase, which is important for early steps of DNA replication trong>introng> eukaryotes. This protetrong>introng> has been shown to trong>introng>teract with MCM7 and DNA polymerase alpha. Studies of the similar gene trong>introng> Xenopus suggested that this protetrong>introng> play a pivotal role trong>introng> the loadtrong>introng>g of DNA polymerase alpha onto chromattrong>introng>. Alternate splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jul 2013]
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cell division cycle 40
Pre-mRNA splictrong>introng>g occurs trong>introng> two sequential transesterification steps. The protetrong>introng> encoded by this gene is found to be essential for the catalytic step II trong>introng> pre-mRNA splictrong>introng>g process. It is found trong>introng> the spliceosome, and contatrong>introng>s seven WD repeats, which function trong>introng> protetrong>introng>-protetrong>introng> trong>introng>teractions. This protetrong>introng> has a sequence similarity to yeast Prp17 protetrong>introng>, which functions trong>introng> two different cellular processes: pre-mRNA splictrong>introng>g and cell cycle progression. It suggests that this protetrong>introng> may play a role trong>introng> cell cycle progression. [provided by RefSeq, Jul 2008]
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cell division cycle 42
The protetrong>introng> encoded by this gene is a small GTPase of the Rho-subfamily, which regulates signaltrong>introng>g pathways that control diverse cellular functions trong>introng>cludtrong>introng>g cell morphology, migration, endocytosis and cell cycle progression. This protetrong>introng> is highly similar to Saccharomyces cerevisiae Cdc 42, and is able to complement the yeast cdc42-1 mutant. The product of oncogene Dbl was reported to specifically catalyze the dissociation of GDP from this protetrong>introng>. This protetrong>introng> could regulate acttrong>introng> polymerization through its direct btrong>introng>dtrong>introng>g to Neural Wiskott-Aldrich syndrome protetrong>introng> (N-WASP), which subsequently activates Arp2/3 complex. Alternative splictrong>introng>g of this gene results trong>introng> multiple transcript variants. Pseudogenes of this gene have been identified on chromosomes 3, 4, 5, 7, 8 and 20. [provided by RefSeq, Apr 2013]
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T-cell leukemia/lymphoma 1B
Enables protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity and protetrong>introng> sertrong>introng>e/threontrong>introng>e ktrong>introng>ase activator activity. trong>Introng>volved trong>introng> trong>introng>tracellular signal transduction. [provided by Alliance of Genome Resources, Mar 2025]
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T-cell leukemia/lymphoma 1A
Overexpression of the TCL1 gene trong>introng> humans has been implicated trong>introng> the development of mature T cell leukemia, trong>introng> which chromosomal rearrangements brtrong>introng>g the TCL1 gene trong>introng> close proximity to the T-cell antigen trong>receptortrong> (TCR)-alpha (MIM 186880) or TCR-trong>betatrong> (MIM 186930) regulatory elements (summarized by Virgilio et al., 1998 [PubMed 9520462]). trong>Introng> normal T cells TCL1 is expressed trong>introng> CD4-/CD8- cells, but not trong>introng> cells at later stages of differentiation. TCL1 functions as a coactivator of the cell survival ktrong>introng>ase AKT (MIM 164730) (Latrong>introng>e et al., 2000 [PubMed 10983986]).[supplied by OMIM, Jul 2010]
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speedy/RINGO cell cycle regulator family member E13, pseudogene
Enables acetylcholtrong>introng>e trong>receptortrong> regulator activity. [provided by Alliance of Genome Resources, Mar 2025]
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cell division cycle associated 7 pseudogene
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speedy/RINGO cell cycle regulator family member E21, pseudogene
Predicted to enable protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity. [provided by Alliance of Genome Resources, Mar 2025]
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engulfment and cell motility 2 pseudogene 1
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cutaneous T-cell lymphoma-associated antigen 1 pseudogene
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LIM and senescent cell antigen-like domatrong>introng>s 2 pseudogene
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trong>introng>turned planar cell polarity protetrong>introng>
Predicted to enable phosphatidyltrong>introng>ositol btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> embryonic digit morphogenesis; roof of mouth development; and tongue morphogenesis. Located trong>introng> ciliary basal body and motile cilium. Implicated trong>introng> asphyxiattrong>introng>g thoracic dystrophy and orofaciodigital syndrome XVII. [provided by Alliance of Genome Resources, Mar 2025]
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cell adhesion associated, oncogene regulated pseudogene
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T-cell lymphoma trong>introng>vasion and metastasis 1
This gene encodes a RAC1-specific guantrong>introng>e nucleotide exchange factor (GEF). GEFs mediate the exchange of guanostrong>introng>e diphosphate (GDP) for guanostrong>introng>e triphosphate (GTP). The btrong>introng>dtrong>introng>g of GTP trong>introng>duces a conformational change trong>introng> RAC1 that allows downstream effectors to btrong>introng>d and transduce a signal. This gene thus regulates RAC1 signaltrong>introng>g pathways that affect cell shape, migration, adhesion, growth, survival, and polarity, as well as trong>introng>fluenctrong>introng>g acttrong>introng> cytoskeletal formation, endocytosis, and membrane trafficktrong>introng>g. This gene thus plays an important role trong>introng> cell trong>introng>vasion, metastasis, and carctrong>introng>ogenesis. trong>Introng> addition to RAC1, the encoded protetrong>introng> activates additional Rho-like GTPases such as CDC42, RAC2, RAC3 and RHOA. This gene encodes multiple protetrong>introng> isoforms that experience a diverse array of trong>introng>tramolecular, protetrong>introng>-protetrong>introng>, and phosphorylation trong>introng>teractions as well as phosphotrong>introng>ositide btrong>introng>dtrong>introng>g. Both the longer and shorter isoforms have C-termtrong>introng>al Dbl homology (DH) and pleckstrtrong>introng> homology (PH) domatrong>introng>s while only the longer isoforms of this gene have the N-termtrong>introng>al myristoylation site and the downstream N-termtrong>introng>al PH domatrong>introng>, ras-btrong>introng>dtrong>introng>g domatrong>introng> (RBD), and PSD-95/DlgA/ZO-1 (PDZ) domatrong>introng>. [provided by RefSeq, Jul 2017]
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T-cell lymphoma trong>introng>vasion and metastasis 2
This gene encodes a guantrong>introng>e nucleotide exchange factor. A highly similar mouse protetrong>introng> specifically activates ras-related C3 botultrong>introng>um substrate 1, converttrong>introng>g this Rho-like guanostrong>introng>e triphosphatase (GTPase) from a guanostrong>introng>e diphosphate-bound trong>introng>active state to a guanostrong>introng>e triphosphate-bound active state. The encoded protetrong>introng> may play a role trong>introng> neural cell development. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been described. [provided by RefSeq, Jul 2008]
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squamous cell carctrong>introng>oma antigen recognized by T cells
This gene encodes two protetrong>introng>s, the SART1(800) protetrong>introng> expressed trong>introng> the nucleus of the majority of proliferattrong>introng>g cells, and the SART1(259) protetrong>introng> expressed trong>introng> the cytosol of epithelial cancers. The SART1(259) protetrong>introng> is translated by the mechanism of -1 frameshifttrong>introng>g durtrong>introng>g posttranscriptional regulation; its full-length sequence is not published yet. The two encoded protetrong>introng>s are thought to be trong>introng>volved trong>introng> the regulation of proliferation. Both protetrong>introng>s have tumor-rejection antigens. The SART1(259) protetrong>introng> possesses tumor epitopes capable of trong>introng>ductrong>introng>g HLA-A2402-restricted cytotoxic T lymphocytes trong>introng> cancer patients. This SART1(259) antigen may be useful trong>introng> specific immunotherapy for cancer patients and may serve as a paradigmatic tool for the diagnosis and treatment of patients with atopy. The SART1(259) protetrong>introng> is found to be essential for the recruitment of the tri-snRNP to the pre-spliceosome trong>introng> the spliceosome assembly pathway. [provided by RefSeq, Jul 2008]
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CDC14 cell division cycle 14 C-like
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speedy/RINGO cell cycle regulator family member E4
Predicted to enable protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity. [provided by Alliance of Genome Resources, Mar 2025]
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B-cell CLL/lymphoma 9 pseudogene 1
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transcription factor 7-like 1 (T-cell specific, HMG-box)
This gene encodes a member of the T cell factor/lymphoid enhancer factor family of transcription factors. These transcription factors are activated by trong>betatrong> catentrong>introng>, mediate the Wnt signaltrong>introng>g pathway and are antagonized by the transformtrong>introng>g growth factor trong>betatrong> signaltrong>introng>g pathway. The encoded protetrong>introng> contatrong>introng>s a high mobility group-box DNA btrong>introng>dtrong>introng>g domatrong>introng> and participates trong>introng> the regulation of cell cycle genes and cellular senescence. [provided by RefSeq, Nov 2010]
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transcription factor 7-like 2 (T-cell specific, HMG-box)
This gene encodes a high mobility group (HMG) box-contatrong>introng>trong>introng>g transcription factor that plays a key role trong>introng> the Wnt signaltrong>introng>g pathway. The protetrong>introng> has been implicated trong>introng> blood glucose homeostasis. Genetic variants of this gene are associated with trong>introng>creased risk of type 2 diabetes. Several transcript variants encodtrong>introng>g multiple different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]
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cell division cycle 123
Enables ATP btrong>introng>dtrong>introng>g activity and magnesium ion btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> eukaryotic translation trong>introng>itiation factor 2 complex assembly. Located trong>introng> cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]
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engulfment and cell motility 1
This gene encodes a member of the engulfment and cell motility protetrong>introng> family. These protetrong>introng>s trong>introng>teract with dedicator of cytoktrong>introng>esis protetrong>introng>s to promote phagocytosis and cell migration. trong>Introng>creased expression of this gene and dedicator of cytoktrong>introng>esis 1 may promote glioma cell trong>introng>vasion, and strong>introng>gle nucleotide polymorphisms trong>introng> this gene may be associated with diabetic nephropathy. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Aug 2013]
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engulfment and cell motility 2
The protetrong>introng> encoded by this gene trong>introng>teracts with the dedicator of cyto-ktrong>introng>esis 1 protetrong>introng>. Similarity to a C. elegans protetrong>introng> suggests that this protetrong>introng> may function trong>introng> phagocytosis of apoptotic cells and trong>introng> cell migration. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Dec 2015]
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engulfment and cell motility 3
The protetrong>introng> encoded by this gene is similar to a C. elegans protetrong>introng> that functions trong>introng> phagocytosis of apoptotic cells and trong>introng> cell migration. Other members of this small family of engulfment and cell motility (ELMO) protetrong>introng>s have been shown to trong>introng>teract with the dedicator of cyto-ktrong>introng>esis 1 protetrong>introng> to promote phagocytosis and effect cell shape changes. [provided by RefSeq, Jul 2008]
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cell cycle progression 1
trong>Introng>volved trong>introng> positive regulation of cell cycle and positive regulation of cell population proliferation. Predicted to be active trong>introng> membrane. [provided by Alliance of Genome Resources, Mar 2025]
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endothelial cell surface expressed chemotaxis and apoptosis regulator
The protetrong>introng> encoded by this gene is primarily found trong>introng> endothelial cells and blood vessels, where it is trong>introng>volved trong>introng> cell shape changes and EGF-trong>introng>duced cell migration. It can enhance the activation of vascular endothelial growth factor trong>receptortrong>-2/ktrong>introng>ase trong>introng>sert domatrong>introng> trong>receptortrong> and also promote the proteolysis of trong>introng>ternalized ktrong>introng>ase trong>introng>sert domatrong>introng> trong>receptortrong>. This gene may play a role trong>introng> angiogenesis-related diseases. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jun 2014]
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programmed cell death 2-like
Predicted to be trong>introng>volved trong>introng> apoptotic process. Located trong>introng> membrane. [provided by Alliance of Genome Resources, Mar 2025]
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dendritic cell-associated nuclear protetrong>introng>
This trong>introng>tronless gene is specifically expressed trong>introng> dendritic cells (DCs), which are potent antigen-presenttrong>introng>g cells trong>introng>volved trong>introng> activattrong>introng>g naive T cells to trong>introng>itiate antigen-specific immune response. The encoded protetrong>introng> is localized matrong>introng>ly trong>introng> the pertrong>introng>ucleus. One of the alleles (A/T) of this gene, that causes premature translation termtrong>introng>ation at aa 117, has been associated with an trong>introng>creased prevalence of major depression trong>introng> humans. [provided by RefSeq, Jul 2008]
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muctrong>introng> 1, cell surface associated
This gene encodes a membrane-bound protetrong>introng> that is a member of the muctrong>introng> family. Muctrong>introng>s are O-glycosylated protetrong>introng>s that play an essential role trong>introng> formtrong>introng>g protective mucous barriers on epithelial surfaces. These protetrong>introng>s also play a role trong>introng> trong>introng>tracellular signaltrong>introng>g. This protetrong>introng> is expressed on the apical surface of epithelial cells that ltrong>introng>e the mucosal surfaces of many different tissues trong>introng>cludtrong>introng>g lung, breast stomach and pancreas. This protetrong>introng> is proteolytically cleaved trong>introng>to alpha and trong>betatrong> subunits that form a heterodimeric complex. The N-termtrong>introng>al alpha subunit functions trong>introng> cell-adhesion and the C-termtrong>introng>al trong>betatrong> subunit is trong>introng>volved trong>introng> cell signaltrong>introng>g. Overexpression, aberrant trong>introng>tracellular localization, and changes trong>introng> glycosylation of this protetrong>introng> have been associated with carctrong>introng>omas. This gene is known to contatrong>introng> a highly polymorphic variable number tandem repeats (VNTR) domatrong>introng>. Alternate splictrong>introng>g results trong>introng> multiple transcript variants.[provided by RefSeq, Feb 2011]
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cell division cycle associated 4 pseudogene 4
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cell division cycle associated 4 pseudogene 1
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cell division cycle associated 4 pseudogene 3
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speedy/RINGO cell cycle regulator family member E22, pseudogene
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cell division cycle 27 homolog pseudogene
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Basal cell carctrong>introng>oma, susceptibility to, 1
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Basal cell carctrong>introng>oma, susceptibility to, 2
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Basal cell carctrong>introng>oma, susceptibility to, 3
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meteortrong>introng>, glial cell differentiation regulator-like
Predicted to enable hormone activity. Predicted to be trong>introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g brown fat cell differentiation; positive regulation of brown fat cell differentiation; and response to muscle activity. Located trong>introng> extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]
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VANGL planar cell polarity protetrong>introng> 2
The protetrong>introng> encoded by this gene is a membrane protetrong>introng> trong>introng>volved trong>introng> the regulation of planar cell polarity, especially trong>introng> the stereociliary bundles of the cochlea. The encoded protetrong>introng> transmits directional signals to trong>introng>dividual cells or groups of cells trong>introng> epithelial sheets. This protetrong>introng> is also trong>introng>volved trong>introng> the development of the neural plate. [provided by RefSeq, Sep 2011]
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programmed cell death 2 pseudogene
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cell division cycle 42 pseudogene 4
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cell division cycle 42 pseudogene 6
|
cell division cycle 42 pseudogene 1
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cell division cycle 42 pseudogene 2
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cutaneous T-cell lymphoma-associated antigen 1 pseudogene
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cell cycle exit and neuronal differentiation 1 pseudogene 1
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cell cycle exit and neuronal differentiation 1 pseudogene 2
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epithelial cell transformtrong>introng>g 2
The protetrong>introng> encoded by this gene is a guantrong>introng>e nucleotide exchange factor and transformtrong>introng>g protetrong>introng> that is related to Rho-specific exchange factors and yeast cell cycle regulators. The expression of this gene is elevated with the onset of DNA synthesis and rematrong>introng>s elevated durtrong>introng>g G2 and M phases. trong>Introng> situ hybridization analysis showed that expression is at a high level trong>introng> cells undergotrong>introng>g mitosis trong>introng> regenerattrong>introng>g liver. Thus, this protetrong>introng> is expressed trong>introng> a cell cycle-dependent manner durtrong>introng>g liver regeneration, and is thought to have an important role trong>introng> the regulation of cytoktrong>introng>esis. Several transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Mar 2017]
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speedy/RINGO cell cycle regulator family member E14, pseudogene
Predicted to enable protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity. [provided by Alliance of Genome Resources, Mar 2025]
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mal, T-cell differentiation protetrong>introng>-like
This gene encodes an element of the machtrong>introng>ery for raft-mediated trafficktrong>introng>g trong>introng> endothelial cells. The encoded protetrong>introng>, a member of the MAL proteolipid family, predomtrong>introng>antly localizes trong>introng> glycolipid- and cholesterol-enriched membrane (GEM) rafts. It trong>introng>teracts with caveoltrong>introng>-1. [provided by RefSeq, Jul 2008]
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mal, T-cell differentiation protetrong>introng> 2 (gene/pseudogene)
This gene encodes a multispan transmembrane protetrong>introng> belongtrong>introng>g to the MAL proteolipid family. The protetrong>introng> is a component of lipid rafts and, trong>introng> polarized cells, it primarily localizes to endosomal structures beneath the apical membrane. It is required for transcytosis, an trong>introng>tracellular transport pathway used to deliver membrane-bound protetrong>introng>s and exogenous cargos from the basolateral to the apical surface. [provided by RefSeq, Jul 2008]
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MCF.2 cell ltrong>introng>e derived transformtrong>introng>g sequence-like
This gene encodes a guantrong>introng>e nucleotide exchange factor that trong>introng>teracts specifically with the GTP-bound Rac1 and plays a role trong>introng> the Rho/Rac signaltrong>introng>g pathways. A variant trong>introng> this gene was associated with osteoarthritis. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Mar 2016]
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zyg-11 related, cell cycle regulator
This gene encodes a subunit of an E3 ubiquittrong>introng> ligase complex that may be trong>introng>volved trong>introng> meiosis. The encoded protetrong>introng> contatrong>introng>s three leuctrong>introng>e-rich repeat motifs. [provided by RefSeq, Nov 2012]
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cutaneous T-cell lymphoma-associated antigen 1 pseudogene
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neuroepithelial cell transformtrong>introng>g 1 pseudogene
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neuroepithelial cell transformtrong>introng>g 1 pseudogene
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BCL2-associated agonist of cell death
The protetrong>introng> encoded by this gene is a member of the BCL-2 family. BCL-2 family members are known to be regulators of programmed cell death. This protetrong>introng> positively regulates cell apoptosis by formtrong>introng>g heterodimers with BCL-xL (B-cell lymphoma-extra large) and BCL-2, and reverstrong>introng>g their death repressor activity. Proapoptotic activity of this protetrong>introng> is regulated through its phosphorylation. Protetrong>introng> ktrong>introng>ases AKT and MAP ktrong>introng>ase, as well as protetrong>introng> phosphatase calctrong>introng>eurtrong>introng> were found to be trong>introng>volved trong>introng> the regulation of this protetrong>introng>. Alternative splictrong>introng>g of this gene results trong>introng> two transcript variants which encode the same isoform. [provided by RefSeq, Dec 2019]
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host cell factor C2 pseudogene 1
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mast cell-expressed membrane protetrong>introng> 1
This gene encodes a strong>introng>gle-pass transmembrane protetrong>introng>. Based on its expression pattern, it is speculated to be trong>introng>volved trong>introng> regulattrong>introng>g mast cell differentiation or immune responses. [provided by RefSeq, Jul 2008]
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cell division cycle 16
The protetrong>introng> encoded by this gene functions as a protetrong>introng> ubiquittrong>introng> ligase and is a component of the multiprotetrong>introng> APC complex. The APC complex is a cycltrong>introng> degradation system that governs exit from mitosis by targettrong>introng>g cell cycle protetrong>introng>s for degredation by the 26S proteasome. Each component protetrong>introng> of the APC complex is highly conserved among eukaryotic organisms. This protetrong>introng>, and other APC complex protetrong>introng>s, contatrong>introng> a tetratricopeptide repeat (TPR) domatrong>introng>; a protetrong>introng> domatrong>introng> that is often trong>introng>volved trong>introng> protetrong>introng>-protetrong>introng> trong>introng>teractions and the assembly of multiprotetrong>introng> complexes. Multiple alternatively spliced transcript variants, encodtrong>introng>g disttrong>introng>ct protetrong>introng>s, have been identified. [provided by RefSeq, Jan 2016]
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epithelial cell transformtrong>introng>g 2 like
Predicted to enable guanyl-nucleotide exchange factor activity. [provided by Alliance of Genome Resources, Mar 2025]
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speedy/RINGO cell cycle regulator family member E9, pseudogene
Enables acetylcholtrong>introng>e trong>receptortrong> regulator activity. [provided by Alliance of Genome Resources, Mar 2025]
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speedy/RINGO cell cycle regulator family member E5
Predicted to enable protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> positive regulation of cycltrong>introng>-dependent protetrong>introng> sertrong>introng>e/threontrong>introng>e ktrong>introng>ase activity. [provided by Alliance of Genome Resources, Mar 2025]
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speedy/RINGO cell cycle regulator family member E6
This gene encodes a cell cycle regulatory protetrong>introng> which plays an important role trong>introng> cell cycle progression by btrong>introng>dtrong>introng>g and activattrong>introng>g cycltrong>introng>-dependent ktrong>introng>ases. The encoded protetrong>introng> belongs to a family of cycltrong>introng>-dependent ktrong>introng>ase regulators that contatrong>introng> a speedy box domatrong>introng> which is required for cycltrong>introng>-dependent ktrong>introng>ase activation. [provided by RefSeq, Jul 2017]
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speedy/RINGO cell cycle regulator family member E1
This gene is located at chromosome 7p13 which is close to the Williams Beuren syndrome chromosome region 7q11.23. [provided by RefSeq, Jul 2008]
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speedy/RINGO cell cycle regulator family member E3
Predicted to enable protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity. [provided by Alliance of Genome Resources, Mar 2025]
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speedy/RINGO cell cycle regulator family member E2
Predicted to enable protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity. [provided by Alliance of Genome Resources, Mar 2025]
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ES cell expressed Ras
This gene encodes a constitutively active member of the small GTPase Ras protetrong>introng> family. The encoded protetrong>introng> activates the phosphatidyltrong>introng>ositol 3-ktrong>introng>ase signal transduction pathway trong>introng> undifferentiated stem cells, but is not expressed trong>introng> differentiated cells. This gene may be trong>introng>volved trong>introng> cancer and chemotherapy resistance. [provided by RefSeq, Dec 2012]
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testicular germ cell tumor susceptibility 1
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islet cell autoantigen 1, 69kDa
This gene encodes a protetrong>introng> with an arfapttrong>introng> homology domatrong>introng> that is found both trong>introng> the cytosol and as membrane-bound form on the Golgi complex and immature secretory granules. This protetrong>introng> is believed to be an autoantigen trong>introng> trong>introng>sultrong>introng>-dependent diabetes mellitus and primary Sjogren's syndrome. Several transcript variants encodtrong>introng>g two different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]
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cell division cycle associated 8 pseudogene
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cell division cycle 6
The protetrong>introng> encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc6, a protetrong>introng> essential for the trong>introng>itiation of DNA replication. This protetrong>introng> functions as a regulator at the early steps of DNA replication. It localizes trong>introng> cell nucleus durtrong>introng>g cell cyle G1, but translocates to the cytoplasm at the start of S phase. The subcellular translocation of this protetrong>introng> durtrong>introng>g cell cyle is regulated through its phosphorylation by Cdks. Transcription of this protetrong>introng> was reported to be regulated trong>introng> response to mitogenic signals through transcriptional control mechanism trong>introng>volvtrong>introng>g E2F protetrong>introng>s. [provided by RefSeq, Jul 2008]
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cell division cycle 7
This gene encodes a cell division cycle protetrong>introng> with ktrong>introng>ase activity that is critical for the G1/S transition. The yeast homolog is also essential for trong>introng>itiation of DNA replication as cell division occurs. Overexpression of this gene product may be associated with neoplastic transformation for some tumors. Multiple alternatively spliced transcript variants that encode the same protetrong>introng> have been detected. [provided by RefSeq, Aug 2008]
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carctrong>introng>oembryonic antigen-related cell adhesion molecule pseudogene 10
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carctrong>introng>oembryonic antigen-related cell adhesion molecule pseudogene 11
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IL2-trong>introng>ducible T-cell ktrong>introng>ase
This gene encodes an trong>introng>tracellular tyrostrong>introng>e ktrong>introng>ase expressed trong>introng> T-cells. The protetrong>introng> contatrong>introng>s both SH2 and SH3 domatrong>introng>s which are often found trong>introng> trong>introng>tracellular ktrong>introng>ases. It is thought to play a role trong>introng> T-cell proliferation and differentiation. [provided by RefSeq, Jul 2008]
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B-cell CLL/lymphoma 9-like
Enables trong>betatrong>-catentrong>introng> btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g negative regulation of transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> signaltrong>introng>g pathway; positive regulation of epithelial to mesenchymal transition; and positive regulation of transcription by RNA polymerase II. Located trong>introng> fibrillar center and nucleoplasm. Part of trong>betatrong>-catentrong>introng>-TCF complex. [provided by Alliance of Genome Resources, Mar 2025]
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speedy/RINGO cell cycle regulator family member E18
Predicted to enable protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity. [provided by Alliance of Genome Resources, Mar 2025]
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endothelial cell-specific molecule 1
This gene encodes a secreted protetrong>introng> which is matrong>introng>ly expressed trong>introng> the endothelial cells trong>introng> human lung and kidney tissues. The expression of this gene is regulated by cytoktrong>introng>es, suggesttrong>introng>g that it may play a role trong>introng> endothelium-dependent pathological disorders. The transcript contatrong>introng>s multiple polyadenylation and mRNA trong>introng>stability signals. Two transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
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male germ cell-associated ktrong>introng>ase
The product of this gene is a sertrong>introng>e/threontrong>introng>e protetrong>introng> ktrong>introng>ase related to ktrong>introng>ases trong>introng>volved trong>introng> cell cycle regulation. Studies of the mouse and rat homologs have localized the ktrong>introng>ase to the chromosomes durtrong>introng>g meiosis trong>introng> spermatogenesis, specifically to the synaptonemal complex that exists while homologous chromosomes are paired. Mutations trong>introng> this gene have been associated with ciliary defects resulttrong>introng>g trong>introng> rettrong>introng>itis pigmentosa 62. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jan 2016]
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mal, T-cell differentiation protetrong>introng>
The protetrong>introng> encoded by this gene is a highly hydrophobic trong>introng>tegral membrane protetrong>introng> belongtrong>introng>g to the MAL family of proteolipids. The protetrong>introng> has been localized to the endoplasmic reticulum of T-cells and is a candidate ltrong>introng>ker protetrong>introng> trong>introng> T-cell signal transduction. trong>Introng> addition, this proteolipid is localized trong>introng> compact myeltrong>introng> of cells trong>introng> the nervous system and has been implicated trong>introng> myeltrong>introng> biogenesis and/or function. The protetrong>introng> plays a role trong>introng> the formation, stabilization and matrong>introng>tenance of glycosphtrong>introng>golipid-enriched membrane microdomatrong>introng>s. Down-regulation of this gene has been associated with a variety of human epithelial malignancies. Alternative splictrong>introng>g produces four transcript variants which vary from each other by the presence or absence of alternatively spliced exons 2 and 3. [provided by RefSeq, May 2012]
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cell division cycle 37-like 1
CDC37L1 is a cytoplasmic phosphoprotetrong>introng> that exists trong>introng> complex with HSP90 (HSPCA; MIM 140571) as well as several other protetrong>introng>s trong>introng>volved trong>introng> HSP90-mediated protetrong>introng> foldtrong>introng>g (Scholz et al., 2001 [PubMed 11413142]).[supplied by OMIM, Mar 2008]
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carctrong>introng>oembryonic antigen-related cell adhesion molecule pseudogene 8
|
carctrong>introng>oembryonic antigen-related cell adhesion molecule pseudogene 9
|
carctrong>introng>oembryonic antigen-related cell adhesion molecule pseudogene 2
|
carctrong>introng>oembryonic antigen-related cell adhesion molecule pseudogene 3
|
carctrong>introng>oembryonic antigen-related cell adhesion molecule pseudogene 1
|
carctrong>introng>oembryonic antigen-related cell adhesion molecule pseudogene 6
|
carctrong>introng>oembryonic antigen-related cell adhesion molecule pseudogene 7
|
carctrong>introng>oembryonic antigen-related cell adhesion molecule pseudogene 4
|
carctrong>introng>oembryonic antigen-related cell adhesion molecule pseudogene 5
|
proliferattrong>introng>g cell nuclear antigen pseudogene 3
|
neuroepithelial cell transformtrong>introng>g 1 pseudogene
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trong>introng>ducible T-cell co-stimulator ligand
Enables identical protetrong>introng> btrong>introng>dtrong>introng>g activity and trong>receptortrong> ligand activity. trong>Introng>volved trong>introng> T follicular helper cell differentiation. Located trong>introng> trong>introng>tracellular membrane-bounded organelle. Is active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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Down syndrome cell adhesion molecule like 1
The protetrong>introng> encoded by this gene is a member of the Ig superfamily of cell adhesion molecules and is trong>introng>volved trong>introng> neuronal differentiation. The encoded membrane-bound protetrong>introng> localizes to the cell surface, where it forms aggregates that repel neuronal processes of the same cell type. [provided by RefSeq, Sep 2016]
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cell death-trong>introng>ductrong>introng>g DFFA-like effector b
Enables identical protetrong>introng> btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> lipid droplet fusion and positive regulation of apoptotic process. Acts upstream of or withtrong>introng> apoptotic process. Located trong>introng> cytosol and pertrong>introng>uclear region of cytoplasm. Is active trong>introng> lipid droplet. [provided by Alliance of Genome Resources, Mar 2025]
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carctrong>introng>oembryonic antigen-related cell adhesion molecule 22, pseudogene
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T-cell activation antigen p250
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MCF.2 cell ltrong>introng>e derived transformtrong>introng>g sequence-like 2
Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be located trong>introng> cytosol. Predicted to be active trong>introng> cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]
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cell growth regulator with EF-hand domatrong>introng> 1
Predicted to enable calcium ion btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> negative regulation of cell population proliferation. Predicted to be located trong>introng> extracellular region. [provided by Alliance of Genome Resources, Mar 2025]
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muctrong>introng> 20, cell surface associated pseudogene
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B-cell CLL/lymphoma 10
This gene was identified by its translocation trong>introng> a case of mucosa-associated lymphoid tissue (MALT) lymphoma. The protetrong>introng> encoded by this gene contatrong>introng>s a caspase recruitment domatrong>introng> (CARD), and has been shown to trong>introng>duce apoptosis and to activate NF-kappaB. This protetrong>introng> is reported to trong>introng>teract with other CARD domatrong>introng> contatrong>introng>trong>introng>g protetrong>introng>s trong>introng>cludtrong>introng>g CARD9, 10, 11 and 14, which are thought to function as upstream regulators trong>introng> NF-kappaB signaltrong>introng>g. This protetrong>introng> is found to form a complex with MALT1, a protetrong>introng> encoded by another gene known to be translocated trong>introng> MALT lymphoma. MALT1 and this protetrong>introng> are thought to synergize trong>introng> the activation of NF-kappaB, and the deregulation of either of them may contribute to the same pathogenetic process that leads to the malignancy. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Mar 2016]
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L1 cell adhesion molecule
The protetrong>introng> encoded by this gene is an axonal glycoprotetrong>introng> belongtrong>introng>g to the immunoglobultrong>introng> supergene family. The ectodomatrong>introng>, consisttrong>introng>g of several immunoglobultrong>introng>-like domatrong>introng>s and fibronecttrong>introng>-like repeats (type III), is ltrong>introng>ked via a strong>introng>gle transmembrane sequence to a conserved cytoplasmic domatrong>introng>. This cell adhesion molecule plays an important role trong>introng> nervous system development, trong>introng>cludtrong>introng>g neuronal migration and differentiation. Mutations trong>introng> the gene cause X-ltrong>introng>ked neurological syndromes known as CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splictrong>introng>g of this gene results trong>introng> multiple transcript variants, some of which trong>introng>clude an alternate exon that is considered to be specific to neurons. [provided by RefSeq, May 2013]
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Temperature sensitivity complementation, cell cycle specific
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cell cycle associated protetrong>introng> 1
Enables several functions, trong>introng>cludtrong>introng>g ATP btrong>introng>dtrong>introng>g activity; molecular condensate scaffold activity; and signaltrong>introng>g adaptor activity. trong>Introng>volved trong>introng> membraneless organelle assembly; positive regulation of stress granule assembly; and regulation of gene expression. Located trong>introng> cell leadtrong>introng>g edge and cytosol. Is active trong>introng> trong>introng>tracellular membraneless organelle. [provided by Alliance of Genome Resources, Mar 2025]
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embryonic stem cell related (non-protetrong>introng> codtrong>introng>g)
Part of nucleus. [provided by Alliance of Genome Resources, Mar 2025]
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speedy/RINGO cell cycle regulator family member E19, pseudogene
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squamous cell carctrong>introng>oma antigen recognized by T cells 3
The protetrong>introng> encoded by this gene is an RNA-btrong>introng>dtrong>introng>g nuclear protetrong>introng> that is a tumor-rejection antigen. This antigen possesses tumor epitopes capable of trong>introng>ductrong>introng>g HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes trong>introng> cancer patients and may be useful for specific immunotherapy. This gene product is found to be an important cellular factor for HIV-1 gene expression and viral replication. It also associates transiently with U6 and U4/U6 snRNPs durtrong>introng>g the recycltrong>introng>g phase of the spliceosome cycle. This encoded protetrong>introng> is thought to be trong>introng>volved trong>introng> the regulation of mRNA splictrong>introng>g. [provided by RefSeq, Jul 2008]
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leukocyte cell derived chemotaxtrong>introng> 1
This gene encodes a glycosylated transmembrane protetrong>introng> that is cleaved to form a mature, secreted protetrong>introng>. The N-termtrong>introng>us of the precursor protetrong>introng> shares characteristics with other surfactant protetrong>introng>s and is sometimes called chondrosurfactant protetrong>introng> although no biological activity has yet been deftrong>introng>ed for it. The C-termtrong>introng>us of the precursor protetrong>introng> contatrong>introng>s a 25 kDa mature protetrong>introng> called leukocyte cell-derived chemotaxtrong>introng>-1 or chondromodultrong>introng>-1. The mature protetrong>introng> promotes chondrocyte growth and trong>introng>hibits angiogenesis. This gene is expressed trong>introng> the avascular zone of prehypertrophic cartilage and its expression decreases durtrong>introng>g chondrocyte hypertrophy and vascular trong>introng>vasion. The mature protetrong>introng> likely plays a role trong>introng> endochondral bone development by permitttrong>introng>g cartilagtrong>introng>ous anlagen to be vascularized and replaced by bone. It may be trong>introng>volved also trong>introng> the broad control of tissue vascularization durtrong>introng>g development. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g different isoforms. [provided by RefSeq, Jul 2008]
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leukocyte cell-derived chemotaxtrong>introng> 2
This gene encodes a secreted, 16 kDa protetrong>introng> that acts as a chemotactic factor to neutrophils and stimulates the growth of chondrocytes and osteoblasts. This protetrong>introng> has high sequence similarity to the chondromodultrong>introng> repeat regions of the chicken myb-trong>introng>duced myeloid 1 protetrong>introng>. A polymorphism trong>introng> this gene may be associated with rheumatoid arthritis. [provided by RefSeq, Jul 2008]
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opioid btrong>introng>dtrong>introng>g protetrong>introng>/cell adhesion molecule-like
This gene encodes a member of the IgLON subfamily trong>introng> the immunoglobultrong>introng> protetrong>introng> superfamily of protetrong>introng>s. The encoded preprotetrong>introng> is proteolytically processed to generate the mature protetrong>introng>. This protetrong>introng> is localized trong>introng> the plasma membrane and may have an accessory role trong>introng> opioid trong>receptortrong> function. This gene has an ortholog trong>introng> rat and bovtrong>introng>e. The opioid btrong>introng>dtrong>introng>g-cell adhesion molecule encoded by the rat gene btrong>introng>ds opioid alkaloids trong>introng> the presence of acidic lipids, exhibits selectivity for mu ligands and acts as a GPI-anchored protetrong>introng>. Strong>introng>ce the encoded protetrong>introng> is highly conserved trong>introng> species durtrong>introng>g evolution, it may have a fundamental role trong>introng> mammalian systems. Alternative splictrong>introng>g results trong>introng> multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
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WD repeat contatrong>introng>trong>introng>g planar cell polarity effector
This gene encodes a cytoplasmic WD40 repeat protetrong>introng>. A similar gene trong>introng> frogs encodes a planar cell polarity protetrong>introng> that plays a critical role trong>introng> collective cell movement and ciliogenesis by mediattrong>introng>g septtrong>introng> localization. Mutations trong>introng> this gene are associated with Bardet-Biedl syndrome 15 and may also play a role trong>introng> Meckel-Gruber syndrome. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jun 2014]
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cell adhesion associated, oncogene regulated pseudogene
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speedy/RINGO cell cycle regulator family member E17
Enables acetylcholtrong>introng>e trong>receptortrong> regulator activity. [provided by Alliance of Genome Resources, Mar 2025]
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speedy/RINGO cell cycle regulator family member E16
Predicted to enable protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity. [provided by Alliance of Genome Resources, Mar 2025]
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speedy/RINGO cell cycle regulator family member A
Enables protetrong>introng> ktrong>introng>ase activator activity and protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g G1/S transition of mitotic cell cycle; positive regulation of cell population proliferation; and positive regulation of protetrong>introng> ktrong>introng>ase activity. Located trong>introng> nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]
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speedy/RINGO cell cycle regulator family member C
Enables protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity. Predicted to be located trong>introng> nucleus. [provided by Alliance of Genome Resources, Mar 2025]
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B-cell acute lymphoblastic leukemia expressed
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programmed cell death 2-like pseudogene
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cell adhesion associated, oncogene regulated pseudogene
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smooth muscle and endothelial cell enriched migration/differentiation-associated long non-codtrong>introng>g RNA
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B-cell ltrong>introng>ker
This gene encodes a cytoplasmic ltrong>introng>ker or adaptor protetrong>introng> that plays a critical role trong>introng> B cell development. This protetrong>introng> bridges B cell trong>receptortrong>-associated ktrong>introng>ase activation with downstream signaltrong>introng>g pathways, thereby affecttrong>introng>g various biological functions. The phosphorylation of five tyrostrong>introng>e residues is necessary for this protetrong>introng> to nucleate disttrong>introng>ct signaltrong>introng>g effectors followtrong>introng>g B cell trong>receptortrong> activation. Mutations trong>introng> this gene cause hypoglobultrong>introng>emia and absent B cells, a disease trong>introng> which the pro- to pre-B-cell transition is developmentally blocked. Deficiency trong>introng> this protetrong>introng> has also been shown trong>introng> some cases of pre-B acute lymphoblastic leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]
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T-cell immunoglobultrong>introng> and muctrong>introng> domatrong>introng> contatrong>introng>trong>introng>g 4
Predicted to enable phosphatidylsertrong>introng>e btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> apoptotic cell clearance and cytoskeletal rearrangement trong>introng>volved trong>introng> phagocytosis, engulfment. Predicted to be located trong>introng> extracellular region and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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mediator of cell motility 1 pseudogene
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muctrong>introng> 3A, cell surface associated
The muctrong>introng> genes encode epithelial glycoprotetrong>introng>s, some of which are secreted and some membrane bound. Each of the genes contatrong>introng>s at least one large domatrong>introng> of tandemly repeated sequence that encodes the peptide sequence rich trong>introng> sertrong>introng>e and/or threontrong>introng>e residues, which carries most of the O-ltrong>introng>ked glycosylation (Gendler and Spicer, 1995 [PubMed 7778880]).[supplied by OMIM, Aug 2008]
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muctrong>introng> 3B, cell surface associated
Predicted to be located trong>introng> Golgi lumen and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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defender agatrong>introng>st cell death 1
DAD1, the defender agatrong>introng>st apoptotic cell death, was trong>introng>itially identified as a negative regulator of programmed cell death trong>introng> the temperature sensitive tsBN7 cell ltrong>introng>e. The DAD1 protetrong>introng> disappeared trong>introng> temperature-sensitive cells followtrong>introng>g a shift to the nonpermissive temperature, suggesttrong>introng>g that loss of the DAD1 protetrong>introng> triggered apoptosis. DAD1 is believed to be a tightly associated subunit of oligosaccharyltransferase both trong>introng> the trong>introng>tact membrane and trong>introng> the purified enzyme, thus reflecttrong>introng>g the essential nature of N-ltrong>introng>ked glycosylation trong>introng> eukaryotes. [provided by RefSeq, Jul 2008]
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host cell factor C2
This gene encodes one of two protetrong>introng>s which trong>introng>teract with VP16, a herpes simplex virus protetrong>introng> that trong>introng>itiates virus trong>introng>fection. Both the encoded protetrong>introng> and the origtrong>introng>al Herpes host cell factor trong>introng>teract with VP16 through a trong>betatrong>-propeller domatrong>introng>. The origtrong>introng>al Herpes host cell factor, however, is effective at trong>introng>itiattrong>introng>g viral trong>introng>fection while the encoded protetrong>introng> is not. Transcripts of varytrong>introng>g length due to alternative polyadenylation signals have been described. [provided by RefSeq, Jul 2008]
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host cell factor C1
This gene is a member of the host cell factor family and encodes a protetrong>introng> with five Kelch repeats, a fibronecttrong>introng>-like motif, and six HCF repeats, each of which contatrong>introng>s a highly specific cleavage signal. This nuclear coactivator is proteolytically cleaved at one of the six possible sites, resulttrong>introng>g trong>introng> the creation of an N-termtrong>introng>al trong>chatrong>introng>trong> and the correspondtrong>introng>g C-termtrong>introng>al trong>chatrong>introng>trong>. The ftrong>introng>al form of this protetrong>introng> consists of noncovalently bound N- and C-termtrong>introng>al trong>chatrong>introng>trong>s. The protetrong>introng> is trong>introng>volved trong>introng> control of the cell cycle and transcriptional regulation durtrong>introng>g herpes simplex virus trong>introng>fection. Alternatively spliced variants which encode different protetrong>introng> isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
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membrane-spanntrong>introng>g 4-domatrong>introng>s, subfamily A, member 3 (hematopoietic cell-specific)
This gene encodes a member of the membrane-spanntrong>introng>g 4A gene family. Members of this protetrong>introng> family are characterized by common structural features and similar trong>introng>tron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This family member likely plays a role trong>introng> signal transduction and may function as a subunit associated with trong>receptortrong> complexes. The gene encodtrong>introng>g this protetrong>introng> is localized to 11q12, among a cluster of related family members. Alternative splictrong>introng>g may result trong>introng> multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
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testicular cell adhesion molecule 1, pseudogene
This pseudogene is located downstream from the growth hormone locus on chromosome 17. This locus evolved by a series of partial duplications that have disrupted the human gene. A homologous gene trong>introng> mouse encodes a testis-specific cell adhesion protetrong>introng> that may play a role trong>introng> germ cell-Sertoli cell trong>introng>teractions. [provided by RefSeq, Apr 2012]
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bone marrow stromal cell antigen 1
Bone marrow stromal cell antigen-1 is a stromal cell ltrong>introng>e-derived glycosylphosphatidyltrong>introng>ositol-anchored molecule that facilitates pre-B-cell growth. The deduced amtrong>introng>o acid sequence exhibits 33% similarity with CD38. BST1 expression is enhanced trong>introng> bone marrow stromal cell ltrong>introng>es derived from patients with rheumatoid arthritis. The polyclonal B-cell abnormalities trong>introng> rheumatoid arthritis may be, at least trong>introng> part, attributed to BST1 overexpression trong>introng> the stromal cell population. [provided by RefSeq, Jul 2008]
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bone marrow stromal cell antigen 2
Bone marrow stromal cells are trong>introng>volved trong>introng> the growth and development of B-cells. The specific function of the protetrong>introng> encoded by the bone marrow stromal cell antigen 2 is undetermtrong>introng>ed; however, this protetrong>introng> may play a role trong>introng> pre-B-cell growth and trong>introng> rheumatoid arthritis. [provided by RefSeq, Jul 2008]
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Purktrong>introng>je cell protetrong>introng> 4 like 1
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programmed cell death 6 trong>introng>teracttrong>introng>g protetrong>introng>
This gene encodes a protetrong>introng> that functions withtrong>introng> the ESCRT pathway trong>introng> the abscission stage of cytoktrong>introng>esis, trong>introng> trong>introng>tralumenal endosomal vesicle formation, and trong>introng> enveloped virus buddtrong>introng>g. Studies ustrong>introng>g mouse cells have shown that overexpression of this protetrong>introng> can block apoptosis. trong>Introng> addition, the product of this gene btrong>introng>ds to the product of the PDCD6 gene, a protetrong>introng> required for apoptosis, trong>introng> a calcium-dependent manner. This gene product also btrong>introng>ds to endophiltrong>introng>s, protetrong>introng>s that regulate membrane shape durtrong>introng>g endocytosis. Overexpression of this gene product and endophiltrong>introng>s results trong>introng> cytoplasmic vacuolization, which may be partly responsible for the protection agatrong>introng>st cell death. Several alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012]
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neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquittrong>introng> protetrong>introng> ligase
This gene is the foundtrong>introng>g member of the NEDD4 family of HECT ubiquittrong>introng> ligases that function trong>introng> the ubiquittrong>introng> proteasome system of protetrong>introng> degradation. The encoded protetrong>introng> contatrong>introng>s an N-termtrong>introng>al calcium and phospholipid btrong>introng>dtrong>introng>g C2 domatrong>introng> followed by multiple tryptophan-rich WW domatrong>introng>s and, a C-termtrong>introng>al HECT ubiquittrong>introng> ligase catalytic domatrong>introng>. It plays critical role trong>introng> the regulation of a number of membrane trong>receptortrong>s, endocytic machtrong>introng>ery components and the tumor suppressor PTEN. [provided by RefSeq, Jul 2016]
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speedy/RINGO cell cycle regulator family member E20, pseudogene
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undifferentiated embryonic cell transcription factor 1
The protetrong>introng> encoded by this gene is a leuctrong>introng>e zipper-contatrong>introng>trong>introng>g transcriptional coactivator that may ltrong>introng>k the upstream activator ATF2 with the basal transcription complex. The encoded protetrong>introng> is closely associated with chromattrong>introng> and is required for the proper differentiation of embryonic carctrong>introng>oma and embryonic stem cells. Found nearly exclusively trong>introng> pluripotent cells, this protetrong>introng> can also serve as a transcriptional repressor. [provided by RefSeq, Nov 2015]
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carctrong>introng>oembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotetrong>introng>)
This gene encodes a member of the carctrong>introng>oembryonic antigen (CEA) gene family, which belongs to the immunoglobultrong>introng> superfamily. Two subgroups of the CEA family, the CEA cell adhesion molecules and the pregnancy-specific glycoprotetrong>introng>s, are located withtrong>introng> a 1.2 Mb cluster on the long arm of chromosome 19. Eleven pseudogenes of the CEA cell adhesion molecule subgroup are also found trong>introng> the cluster. The encoded protetrong>introng> was origtrong>introng>ally described trong>introng> bile ducts of liver as biliary glycoprotetrong>introng>. Subsequently, it was found to be a cell-cell adhesion molecule detected on leukocytes, epithelia, and endothelia. The encoded protetrong>introng> mediates cell adhesion via homophilic as well as heterophilic btrong>introng>dtrong>introng>g to other protetrong>introng>s of the subgroup. Multiple cellular activities have been attributed to the encoded protetrong>introng>, trong>introng>cludtrong>introng>g roles trong>introng> the differentiation and arrangement of tissue three-dimensional structure, angiogenesis, apoptosis, tumor suppression, metastasis, and the modulation of trong>introng>nate and adaptive immune responses. Multiple transcript variants encodtrong>introng>g different isoforms have been reported, but the full-length nature of all variants has not been deftrong>introng>ed. [provided by RefSeq, May 2010]
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carctrong>introng>oembryonic antigen-related cell adhesion molecule 3
This gene encodes a member of the family of carctrong>introng>oembryonic antigen-related cell adhesion molecules (CEACAMs), which are used by several bacterial pathogens to btrong>introng>d and trong>introng>vade host cells. The encoded transmembrane protetrong>introng> directs phagocytosis of several bacterial species that is dependent on the small GTPase Rac. It is thought to serve an important role trong>introng> controlltrong>introng>g human-specific pathogens by the trong>introng>nate immune system. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2013]
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carctrong>introng>oembryonic antigen-related cell adhesion molecule 5
This gene encodes a cell surface glycoprotetrong>introng> that represents the foundtrong>introng>g member of the carctrong>introng>oembryonic antigen (CEA) family of protetrong>introng>s. The encoded protetrong>introng> is used as a cltrong>introng>ical biomarker for gastrotrong>introng>testtrong>introng>al cancers and may promote tumor development through its role as a cell adhesion molecule. Additionally, the encoded protetrong>introng> may regulate differentiation, apoptosis, and cell polarity. This gene is present trong>introng> a CEA family gene cluster on chromosome 19. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jul 2015]
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carctrong>introng>oembryonic antigen-related cell adhesion molecule 4
Predicted to enable protetrong>introng> tyrostrong>introng>e ktrong>introng>ase btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> phagocytosis. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> cell surface and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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carctrong>introng>oembryonic antigen-related cell adhesion molecule 7
This gene encodes a cell surface glycoprotetrong>introng> and member of the carctrong>introng>oembryonic antigen (CEA) family of protetrong>introng>s. Expression of this gene may be downregulated trong>introng> colon and rectal cancer. Additionally, lower expression levels of this gene may be predictive of rectal cancer recurrence. This gene is present trong>introng> a CEA family gene cluster on chromosome 19. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jul 2015]
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carctrong>introng>oembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacttrong>introng>g antigen)
This gene encodes a protetrong>introng> that belongs to the carctrong>introng>oembryonic antigen (CEA) family whose members are glycosyl phosphatidyl trong>introng>ositol (GPI) anchored cell surface glycoprotetrong>introng>s. Members of this family play a role trong>introng> cell adhesion and are widely used as tumor markers trong>introng> serum immunoassay determtrong>introng>ations of carctrong>introng>oma. This gene affects the sensitivity of tumor cells to adenovirus trong>introng>fection. The protetrong>introng> encoded by this gene acts as a trong>receptortrong> for adherent-trong>introng>vasive E. coli adhesion to the surface of ileal epithelial cells trong>introng> patients with Crohn's disease. This gene is clustered with genes and pseudogenes of the cell adhesion molecules subgroup of the CEA family on chromosome 19. [provided by RefSeq, Apr 2014]
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carctrong>introng>oembryonic antigen-related cell adhesion molecule 8
Enables protetrong>introng> heterodimerization activity. trong>Introng>volved trong>introng> heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules. Located trong>introng> cell surface and extracellular space. Biomarker of severe acute respiratory syndrome. [provided by Alliance of Genome Resources, Mar 2025]
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histone cell cycle regulator pseudogene 1
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cell division cycle 42 pseudogene 3
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basal cell adhesion molecule (Lutheran blood group)
This gene encodes Lutheran blood group glycoprotetrong>introng>, a member of the immunoglobultrong>introng> superfamily and a trong>receptortrong> for the extracellular matrix protetrong>introng>, lamtrong>introng>trong>introng>. The protetrong>introng> contatrong>introng>s five extracellular immunoglobultrong>introng> domatrong>introng>s, a strong>introng>gle transmembrane domatrong>introng>, and a short C-termtrong>introng>al cytoplasmic tail. This protetrong>introng> may play a role trong>introng> epithelial cell cancer and trong>introng> vaso-occlusion of red blood cells trong>introng> sickle cell disease. Polymorphisms trong>introng> this gene deftrong>introng>e some of the antigens trong>introng> the Lutheran system and also the Auberger system. trong>Introng>activattrong>introng>g variants of this gene result trong>introng> the recessive Lutheran null phenotype, Lu(a-b-), of the Lutheran blood group. Two transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, May 2012]
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CWF19-like 1, cell cycle control (S. pombe)
This gene encodes a member of the CWF19 protetrong>introng> family. Mutations trong>introng> this gene have been associated with autosomal recessive sptrong>introng>ocerebellar ataxia-17 and mild cognitive disability. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Dec 2014]
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CWF19-like 2, cell cycle control (S. pombe)
Predicted to be trong>introng>volved trong>introng> mRNA splictrong>introng>g, via spliceosome. Predicted to be located trong>introng> nucleoplasm. Predicted to be part of post-mRNA release spliceosomal complex. [provided by Alliance of Genome Resources, Mar 2025]
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cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) pseudogene
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germ cell-less, spermatogenesis associated 1
This gene encodes a nuclear envelope protetrong>introng> that appears to be trong>introng>volved trong>introng> spermatogenesis, either directly or by trong>introng>fluenctrong>introng>g genes that play a more direct role trong>introng> the process. This multi-exon locus is the homolog of the mouse and drosophila germ cell-less gene but the human genome also contatrong>introng>s a strong>introng>gle-exon locus on chromosome 5 that contatrong>introng>s an open readtrong>introng>g frame capable of encodtrong>introng>g a highly-related protetrong>introng>. [provided by RefSeq, Jul 2008]
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cell adhesion molecule 4
Enables vascular endothelial growth factor trong>receptortrong> 2 btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g negative regulation of protetrong>introng> phosphorylation; regulation of Rac protetrong>introng> signal transduction; and regulation of wound healtrong>introng>g. Located trong>introng> cell leadtrong>introng>g edge and cell-cell contact zone. [provided by Alliance of Genome Resources, Mar 2025]
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cell adhesion molecule 2
This gene encodes a member of the synaptic cell adhesion molecule 1 (SynCAM) family which belongs to the immunoglobultrong>introng> (Ig) superfamily. The encoded protetrong>introng> has three Ig-like domatrong>introng>s and a cytosolic protetrong>introng> 4.1 btrong>introng>dtrong>introng>g site near the C-termtrong>introng>us. Protetrong>introng>s belongtrong>introng>g to the protetrong>introng> 4.1 family crossltrong>introng>k spectrtrong>introng> and trong>introng>teract with other cytoskeletal protetrong>introng>s. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
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cell adhesion molecule 3
The protetrong>introng> encoded by this gene is a calcium-trong>introng>dependent cell-cell adhesion protetrong>introng> that can form homodimers or heterodimers with other necttrong>introng> protetrong>introng>s. The encoded protetrong>introng> has both homophilic and heterophilic cell-cell adhesion activity. This gene is reported to be a tumor suppressor gene. [provided by RefSeq, Oct 2016]
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cell adhesion molecule 1
Enables signaltrong>introng>g trong>receptortrong> btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g cell recognition; positive regulation of cytoktrong>introng>e production; and susceptibility to natural killer cell mediated cytotoxicity. Located trong>introng> plasma membrane. Implicated trong>introng> breast carctrong>introng>oma and prostate cancer. Biomarker of cervix uteri carctrong>introng>oma trong>introng> situ. [provided by Alliance of Genome Resources, Mar 2025]
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cell death activator CIDE-3-like
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vegetative cell wall protetrong>introng> gp1-like
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chymase 1, mast cell
This gene encodes a chymotryptic sertrong>introng>e protetrong>introng>ase that belongs to the peptidase family S1. It is expressed trong>introng> mast cells and is thought to function trong>introng> the degradation of the extracellular matrix, the regulation of submucosal gland secretion, and the generation of vasoactive peptides. trong>Introng> the heart and blood vessels, this protetrong>introng>, rather than angiotenstrong>introng> converttrong>introng>g enzyme, is largely responsible for converttrong>introng>g angiotenstrong>introng> I to the vasoactive peptide angiotenstrong>introng> II. Alternative splictrong>introng>g results trong>introng> multiple variants. [provided by RefSeq, Apr 2015]
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B-cell CLL/lymphoma 11A (ztrong>introng>c ftrong>introng>ger protetrong>introng>)
This gene encodes a C2H2 type ztrong>introng>c-ftrong>introng>ger protetrong>introng> by its similarity to the mouse Bcl11a/Evi9 protetrong>introng>. The correspondtrong>introng>g mouse gene is a common site of retroviral trong>introng>tegration trong>introng> myeloid leukemia, and may function as a leukemia disease gene, trong>introng> part, through its trong>introng>teraction with BCL6. Durtrong>introng>g hematopoietic cell differentiation, this gene is down-regulated. It is possibly trong>introng>volved trong>introng> lymphoma pathogenesis strong>introng>ce translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encodtrong>introng>g several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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B-cell CLL/lymphoma 11B (ztrong>introng>c ftrong>introng>ger protetrong>introng>)
This gene encodes a C2H2-type ztrong>introng>c ftrong>introng>ger protetrong>introng> and is closely related to BCL11A, a gene whose translocation may be associated with B-cell malignancies. Although the specific function of this gene has not been determtrong>introng>ed, the encoded protetrong>introng> is known to be a transcriptional repressor, and is regulated by the NURD nucleosome remodeltrong>introng>g and histone deacetylase complex. Four alternatively spliced transcript variants encodtrong>introng>g disttrong>introng>ct isoforms have been found for this gene. [provided by RefSeq, Aug 2013]
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biorientation of chromosomes trong>introng> cell division 1 pseudogene 2
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biorientation of chromosomes trong>introng> cell division 1 pseudogene 1
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Natural killer cell deficiency, familial isolated
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cell division cycle 42 pseudogene
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fizzy/cell division cycle 20 related 1 (Drosophila)
Enables ubiquittrong>introng>-like ligase-substrate adaptor activity. trong>Introng>volved trong>introng> anaphase-promottrong>introng>g complex-dependent catabolic process; mitotic G2 DNA damage checkpotrong>introng>t signaltrong>introng>g; and positive regulation of ubiquittrong>introng> protetrong>introng> ligase activity. Located trong>introng> nuclear membrane and nucleoplasm. Implicated trong>introng> developmental and epileptic encephalopathy 109. [provided by Alliance of Genome Resources, Mar 2025]
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RHO family trong>introng>teracttrong>introng>g cell polarization regulator 1
Enables 14-3-3 protetrong>introng> btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g establishment of Golgi localization; negative regulation of Rho guanyl-nucleotide exchange factor activity; and negative regulation of Rho protetrong>introng> signal transduction. Located trong>introng> Golgi apparatus; cell leadtrong>introng>g edge; and membrane. [provided by Alliance of Genome Resources, Mar 2025]
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necttrong>introng> cell adhesion molecule 1
This gene encodes an adhesion protetrong>introng> that plays a role trong>introng> the organization of adherens junctions and tight junctions trong>introng> epithelial and endothelial cells. The protetrong>introng> is a calcium(2+)-trong>introng>dependent cell-cell adhesion molecule that belongs to the immunoglobultrong>introng> superfamily and has 3 extracellular immunoglobultrong>introng>-like loops, a strong>introng>gle transmembrane domatrong>introng> (trong>introng> some isoforms), and a cytoplasmic region. This protetrong>introng> acts as a trong>receptortrong> for glycoprotetrong>introng> D (gD) of herpes simplex viruses 1 and 2 (HSV-1, HSV-2), and pseudorabies virus (PRV) and mediates viral entry trong>introng>to epithelial and neuronal cells. Mutations trong>introng> this gene cause cleft lip and palate/ectodermal dysplasia 1 syndrome (CLPED1) as well as non-syndromic cleft lip with or without cleft palate (CL/P). Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g protetrong>introng>s with disttrong>introng>ct C-termtrong>introng>i. [provided by RefSeq, Oct 2009]
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cell migration trong>introng>ductrong>introng>g hyaluronidase 2
This gene encodes a type II transmembrane protetrong>introng> that belongs to the trong>introng>terferon-trong>introng>duced transmembrane (IFITM) protetrong>introng> superfamily. The encoded protetrong>introng> functions as a cell surface hyaluronidase that cleaves extracellular high molecular weight hyaluronan trong>introng>to trong>introng>termediate size fragments before trong>introng>ternalization and degradation trong>introng> the lysosome. It also has an trong>introng>terferon-mediated antiviral function trong>introng> humans through activation of the JAK STAT signaltrong>introng>g pathway. The activation of this gene by transcription factor SOX4 trong>introng> breast cancer cells has been shown to mediate the pathological effects of SOX4 on cancer progression. Naturally occurrtrong>introng>g mutations trong>introng> this gene are associated with autosomal recessive non-syndromic heartrong>introng>g loss. [provided by RefSeq, Mar 2017]
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necttrong>introng> cell adhesion molecule 4
This gene encodes a member of the necttrong>introng> family. The encoded protetrong>introng> contatrong>introng>s two immunoglobultrong>introng>-like (Ig-like) C2-type domatrong>introng>s and one Ig-like V-type domatrong>introng>. It is trong>introng>volved trong>introng> cell adhesion through trans-homophilic and -heterophilic trong>introng>teractions. It is a strong>introng>gle-pass type I membrane protetrong>introng>. The soluble form is produced by proteolytic cleavage at the cell surface by the metalloprotetrong>introng>ase ADAM17/TACE. The secreted form is found trong>introng> both breast tumor cell ltrong>introng>es and breast tumor patients. Mutations trong>introng> this gene are the cause of ectodermal dysplasia-syndactyly syndrome type 1, an autosomal recessive disorder. Alternatively spliced transcript variants have been found but the full-length nature of the variant has not been determtrong>introng>ed.[provided by RefSeq, Jan 2011]
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necttrong>introng> cell adhesion molecule 2
This gene encodes a strong>introng>gle-pass type I membrane glycoprotetrong>introng> with two Ig-like C2-type domatrong>introng>s and an Ig-like V-type domatrong>introng>. This protetrong>introng> is one of the plasma membrane components of adherens junctions. It also serves as an entry for certatrong>introng> mutant stratrong>introng>s of herpes simplex virus and pseudorabies virus, and it is trong>introng>volved trong>introng> cell to cell spreadtrong>introng>g of these viruses. Variations trong>introng> this gene have been associated with differences trong>introng> the severity of multiple sclerosis. Alternate transcriptional splice variants, encodtrong>introng>g different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
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PATJ crumbs cell polarity complex component
This gene encodes a protetrong>introng> with multiple PDZ domatrong>introng>s. PDZ domatrong>introng>s mediate protetrong>introng>-protetrong>introng> trong>introng>teractions, and protetrong>introng>s with multiple PDZ domatrong>introng>s often organize multimeric complexes at the plasma membrane. This protetrong>introng> localizes to tight junctions and to the apical membrane of epithelial cells. A similar protetrong>introng> trong>introng> Drosophila is a scaffoldtrong>introng>g protetrong>introng> which tethers several members of a multimeric signaltrong>introng>g complex trong>introng> phototrong>receptortrong>s. [provided by RefSeq, Jul 2008]
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necttrong>introng> cell adhesion molecule 3
This gene encodes a member of the necttrong>introng> family of protetrong>introng>s, which function as adhesion molecules at adherens junctions. This family member trong>introng>teracts with other necttrong>introng>-like protetrong>introng>s and with afadtrong>introng>, a filamentous acttrong>introng>-btrong>introng>dtrong>introng>g protetrong>introng> trong>introng>volved trong>introng> the regulation of directional motility, cell proliferation and survival. This gene plays a role trong>introng> ocular development trong>introng>volvtrong>introng>g the ciliary body. Mutations trong>introng> this gene are believed to result trong>introng> congenital ocular defects. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Aug 2011]
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RHO family trong>introng>teracttrong>introng>g cell polarization regulator 2
This gene encodes an atypical trong>introng>hibitor of the small G protetrong>introng> RhoA. trong>Introng>hibition of RhoA activity by the encoded protetrong>introng> mediates myoblast fusion and polarization of T cells and neutrophils. The encoded protetrong>introng> is a component of hair cell stereocilia that is essential for heartrong>introng>g. A splice site mutation trong>introng> this gene results trong>introng> heartrong>introng>g loss trong>introng> human patients. [provided by RefSeq, Sep 2016]
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alkaltrong>introng>e phosphatase, germ cell
There are at least four disttrong>introng>ct but related alkaltrong>introng>e phosphatases: trong>introng>testtrong>introng>al, placental, placental-like, and liver/bone/kidney (tissue non-specific). The product of this gene is a membrane bound glycosylated enzyme, localized to testis, thymus and certatrong>introng> germ cell tumors, that is closely related to both the placental and trong>introng>testtrong>introng>al forms of alkaltrong>introng>e phosphatase. [provided by RefSeq, Jul 2008]
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germ cell-less 2, spermatogenesis associated
This locus shares a high degree of identity with the multi-exon germ cell-less gene on chromosome 2. Despite its strong>introng>gle-exon nature, this chromosome 5 locus contatrong>introng>s an open readtrong>introng>g frame that could putatively encode a full-length germ cell-less related protetrong>introng>. [provided by RefSeq, Jul 2008]
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cell cycle regulator of NHEJ
Predicted to enable molecular adaptor activity. trong>Introng>volved trong>introng> double-strand break repair via nonhomologous end jotrong>introng>trong>introng>g and negative regulation of double-strand break repair via nonhomologous end jotrong>introng>trong>introng>g. Located trong>introng> cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]
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DAP3 btrong>introng>dtrong>introng>g cell death enhancer 1
Enables protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity and protetrong>introng> sertrong>introng>e/threontrong>introng>e ktrong>introng>ase activator activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g HRI-mediated signaltrong>introng>g; positive regulation of mitophagy; and response to iron ion starvation. Located trong>introng> mitochondrial trong>introng>ner membrane. Is active trong>introng> cytosol and mitochondrial outer membrane. [provided by Alliance of Genome Resources, Mar 2025]
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speedy/RINGO cell cycle regulator family member E9
Enables acetylcholtrong>introng>e trong>receptortrong> regulator activity. [provided by Alliance of Genome Resources, Mar 2025]
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pancreatic progenitor cell differentiation and proliferation factor like
Predicted to be trong>introng>volved trong>introng> cell differentiation. [provided by Alliance of Genome Resources, Mar 2025]
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speedy/RINGO cell cycle regulator family member E10
Enables acetylcholtrong>introng>e trong>receptortrong> regulator activity. [provided by Alliance of Genome Resources, Mar 2025]
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germ cell nuclear acidic peptidase
Enables SUMO polymer btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> protetrong>introng>-DNA covalent cross-ltrong>introng>ktrong>introng>g repair. Located trong>introng> PML body. Implicated trong>introng> X-ltrong>introng>ked spermatogenic failure 4. [provided by Alliance of Genome Resources, Mar 2025]
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speedy/RINGO cell cycle regulator family member E21
Predicted to enable protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity. [provided by Alliance of Genome Resources, Mar 2025]
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regulator of hemoglobtrong>introng>ization and erythroid cell expansion
Enables erythropoiettrong>introng> trong>receptortrong> btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> erythropoiettrong>introng>-mediated signaltrong>introng>g pathway and positive regulation of erythrocyte differentiation. Located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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speedy/RINGO cell cycle regulator family member E12
Predicted to enable protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity. [provided by Alliance of Genome Resources, Mar 2025]
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NOTCH1 associated lncRNA trong>introng> T cell acute lymphoblastic leukemia 1
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cell death trong>introng>ductrong>introng>g DFFA like effector c pseudogene 1
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muctrong>introng> 20, cell surface associated pseudogene 1
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P38 trong>introng>hibited cutaneous squamous cell carctrong>introng>oma associated ltrong>introng>cRNA
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NELL2 trong>introng>teracttrong>introng>g cell ontogeny regulator 1
Predicted to enable mRNA 3'-UTR btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> 3'-UTR-mediated mRNA stabilization and spermatogenesis. Predicted to be located trong>introng> pertrong>introng>uclear region of cytoplasm. Predicted to be active trong>introng> extracellular space. [provided by Alliance of Genome Resources, Mar 2025]
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lysosome cell death regulator
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stem cell trong>introng>hibitory RNA transcript
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speedy/RINGO cell cycle regulator family member E13
Enables acetylcholtrong>introng>e trong>receptortrong> regulator activity. [provided by Alliance of Genome Resources, Mar 2025]
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speedy/RINGO cell cycle regulator family member E8
Enables acetylcholtrong>introng>e trong>receptortrong> regulator activity. [provided by Alliance of Genome Resources, Mar 2025]
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speedy/RINGO cell cycle regulator family member E14
Predicted to enable protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity. [provided by Alliance of Genome Resources, Mar 2025]
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cell division cycle 50 P4-ATPase accessory subunit A
Enables amtrong>introng>ophospholipid flippase activity and structural molecule activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g phospholipid transport; positive regulation of transport; and xenobiotic transmembrane transport. Located trong>introng> endoplasmic reticulum and plasma membrane. Part of early endosome membrane; late endosome membrane; and phospholipid-translocattrong>introng>g ATPase complex. [provided by Alliance of Genome Resources, Mar 2025]
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cell division cycle 50 P4-ATPase accessory subunit B
Enables amtrong>introng>ophospholipid flippase activity. trong>Introng>volved trong>introng> amtrong>introng>ophospholipid transport and positive regulation of protetrong>introng> exit from endoplasmic reticulum. Part of phospholipid-translocattrong>introng>g ATPase complex and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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low density lipoprotetrong>introng> trong>receptortrong>-related protetrong>introng> 8, apolipoprotetrong>introng> e trong>receptortrong>
This gene encodes a member of the low density lipoprotetrong>introng> trong>receptortrong> (LDLR) family. Low density lipoprotetrong>introng> trong>receptortrong>s are cell surface protetrong>introng>s that play roles trong>introng> both signal transduction and trong>receptortrong>-mediated endocytosis of specific ligands for lysosomal degradation. The encoded protetrong>introng> plays a critical role trong>introng> the migration of neurons durtrong>introng>g development by mediattrong>introng>g Reeltrong>introng> signaltrong>introng>g, and also functions as a trong>receptortrong> for the cholesterol transport protetrong>introng> apolipoprotetrong>introng> E. Expression of this gene may be a marker for major depressive disorder. Alternatively spliced transcript variants encodtrong>introng>g multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2011]
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trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase-like orphan trong>receptortrong> 2
The protetrong>introng> encoded by this gene is a trong>receptortrong> protetrong>introng> tyrostrong>introng>e ktrong>introng>ase and type I transmembrane protetrong>introng> that belongs to the ROR subfamily of cell surface trong>receptortrong>s. The protetrong>introng> may be trong>introng>volved trong>introng> the early formation of the chondrocytes and may be required for cartilage and growth plate development. Mutations trong>introng> this gene can cause brachydactyly type B, a skeletal disorder characterized by hypoplasia/aplasia of distal phalanges and nails. trong>Introng> addition, mutations trong>introng> this gene can cause the autosomal recessive form of Robtrong>introng>ow syndrome, which is characterized by skeletal dysplasia with generalized limb bone shortentrong>introng>g, segmental defects of the sptrong>introng>e, brachydactyly, and a dysmorphic facial appearance. [provided by RefSeq, Jul 2008]
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trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase-like orphan trong>receptortrong> 1
This gene encodes a trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase-like orphan trong>receptortrong> that modulates neurite growth trong>introng> the central nervous system. The encoded protetrong>introng> is a glycosylated type I membrane protetrong>introng> that belongs to the ROR subfamily of cell surface trong>receptortrong>s. It is a pseudoktrong>introng>ase that lacks catalytic activity and may trong>introng>teract with the non-canonical Wnt signalltrong>introng>g pathway. This gene is highly expressed durtrong>introng>g early embryonic development but expressed at very low levels trong>introng> adult tissues. trong>Introng>creased expression of this gene is associated with B-cell chronic lymphocytic leukaemia. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g different isoforms. [provided by RefSeq, Jun 2012]
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nuclear trong>receptortrong> subfamily 3, group C, member 1 (glucocorticoid trong>receptortrong>)
This gene encodes glucocorticoid trong>receptortrong>, which can function both as a transcription factor that btrong>introng>ds to glucocorticoid response elements trong>introng> the promoters of glucocorticoid responsive genes to activate their transcription, and as a regulator of other transcription factors. This trong>receptortrong> is typically found trong>introng> the cytoplasm, but upon ligand btrong>introng>dtrong>introng>g, is transported trong>introng>to the nucleus. It is trong>introng>volved trong>introng> trong>introng>flammatory responses, cellular proliferation, and differentiation trong>introng> target tissues. Mutations trong>introng> this gene are associated with generalized glucocorticoid resistance. Alternative splictrong>introng>g of this gene results trong>introng> transcript variants encodtrong>introng>g either the same or different isoforms. Additional isoforms resulttrong>introng>g from the use of alternate trong>introng>-frame translation trong>introng>itiation sites have also been described, and shown to be functional, displaytrong>introng>g diverse cytoplasm-to-nucleus trafficktrong>introng>g patterns and disttrong>introng>ct transcriptional activities (PMID:15866175). [provided by RefSeq, Feb 2011]
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melanocorttrong>introng> 1 trong>receptortrong> (alpha melanocyte stimulattrong>introng>g hormone trong>receptortrong>)
This trong>introng>tronless gene encodes the trong>receptortrong> protetrong>introng> for melanocyte-stimulattrong>introng>g hormone (MSH). The encoded protetrong>introng>, a seven pass transmembrane G protetrong>introng> coupled trong>receptortrong>, controls melanogenesis. Two types of melantrong>introng> exist: red pheomelantrong>introng> and black eumelantrong>introng>. Gene mutations that lead to a loss trong>introng> function are associated with trong>introng>creased pheomelantrong>introng> production, which leads to lighter sktrong>introng> and hair color. Eumelantrong>introng> is photoprotective but pheomelantrong>introng> may contribute to UV-trong>introng>duced sktrong>introng> damage by generattrong>introng>g free radicals upon UV radiation. Btrong>introng>dtrong>introng>g of MSH to its trong>receptortrong> activates the trong>receptortrong> and stimulates eumelantrong>introng> synthesis. This trong>receptortrong> is a major determtrong>introng>trong>introng>g factor trong>introng> sun sensitivity and is a genetic risk factor for melanoma and non-melanoma sktrong>introng> cancer. Over 30 variant alleles have been identified which correlate with sktrong>introng> and hair color, providtrong>introng>g evidence that this gene is an important component trong>introng> determtrong>introng>trong>introng>g normal human pigment variation. [provided by RefSeq, Jul 2008]
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trong>introng>sultrong>introng> trong>receptortrong>-related trong>receptortrong>
Enables transmembrane trong>receptortrong> protetrong>introng> tyrostrong>introng>e ktrong>introng>ase activity. trong>Introng>volved trong>introng> acttrong>introng> cytoskeleton organization; cellular response to alkaltrong>introng>e pH; and protetrong>introng> autophosphorylation. Part of trong>receptortrong> complex. [provided by Alliance of Genome Resources, Mar 2025]
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G protetrong>introng>-coupled trong>receptortrong> 37 (endotheltrong>introng> trong>receptortrong> type B-like)
This gene is a member of the G protetrong>introng>-coupled trong>receptortrong> family. The encoded protetrong>introng> contatrong>introng>s seven transmembrane domatrong>introng>s and is found trong>introng> cell and endoplasmic reticulum membranes. G protetrong>introng>-coupled trong>receptortrong>s are trong>introng>volved trong>introng> translattrong>introng>g outside signals trong>introng>to G protetrong>introng> mediated trong>introng>tracellular effects. This gene product trong>introng>teracts with Parktrong>introng> and is trong>introng>volved trong>introng> juvenile Parktrong>introng>son disease. [provided by RefSeq, Oct 2012]
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protetrong>introng> ktrong>introng>ase, cAMP-dependent, regulatory, type II, trong>betatrong>
cAMP is a signaltrong>introng>g molecule important for a variety of cellular functions. cAMP exerts its effects by activattrong>introng>g the cAMP-dependent protetrong>introng> ktrong>introng>ase, which transduces the signal through phosphorylation of different target protetrong>introng>s. The trong>introng>active ktrong>introng>ase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the trong>introng>active holoenzyme trong>introng>to a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified trong>introng> humans. The protetrong>introng> encoded by this gene is one of the regulatory subunits. This subunit can be phosphorylated by the activated catalytic subunit. This subunit has been shown to trong>introng>teract with and suppress the transcriptional activity of the cAMP responsive element btrong>introng>dtrong>introng>g protetrong>introng> 1 (CREB1) trong>introng> activated T cells. Knockout studies trong>introng> mice suggest that this subunit may play an important role trong>introng> regulattrong>introng>g energy balance and adiposity. The studies also suggest that this subunit may mediate the gene trong>introng>duction and cataleptic behavior trong>introng>duced by haloperidol. [provided by RefSeq, Jul 2008]
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trong>betatrong>-1,3-glucuronyltransferase 3
The protetrong>introng> encoded by this gene is a member of the glucuronyltransferase gene family, enzymes that exhibit strict acceptor specificity, recogniztrong>introng>g nonreductrong>introng>g termtrong>introng>al sugars and their anomeric ltrong>introng>kages. This gene product catalyzes the formation of the glycosamtrong>introng>oglycan-protetrong>introng> ltrong>introng>kage by way of a glucuronyl transfer reaction trong>introng> the ftrong>introng>al step of the biosynthesis of the ltrong>introng>kage region of proteoglycans. A pseudogene of this gene has been identified on chromosome 3. [provided by RefSeq, Dec 2013]
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trong>betatrong>-1,3-glucuronyltransferase 2
The product of this gene is a transmembrane protetrong>introng> belongtrong>introng>g to the glucuronyltransferase family, and catalyzes the transfer of a trong>betatrong>-1,3 ltrong>introng>ked glucuronic acid to a termtrong>introng>al galactose trong>introng> different glycoprotetrong>introng>s or glycolipids contatrong>introng>trong>introng>g a Gal-trong>betatrong>-1-4GlcNAc or Gal-trong>betatrong>-1-3GlcNAc residue. The encoded protetrong>introng> is trong>introng>volved trong>introng> the synthesis of the human natural killer-1 (HNK-1) carbohydrate epitope, a sulfated trisaccharide implicated trong>introng> cellular migration and adhesion trong>introng> the nervous system. [provided by RefSeq, Jul 2008]
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trong>betatrong>-1,3-glucuronyltransferase 1
The protetrong>introng> encoded by this gene is a member of the glucuronyltransferase gene family. These enzymes exhibit strict acceptor specificity, recogniztrong>introng>g nonreductrong>introng>g termtrong>introng>al sugars and their anomeric ltrong>introng>kages. This gene product functions as the key enzyme trong>introng> a glucuronyl transfer reaction durtrong>introng>g the biosynthesis of the carbohydrate epitope HNK-1 (human natural killer-1, also known as CD57 and LEU7). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
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major histocompatibility complex, class II, DQ trong>betatrong> 1
HLA-DQB1 belongs to the HLA class II trong>betatrong> trong>chatrong>introng>trong> paralogs. This class II molecule is a heterodimer consisttrong>introng>g of an alpha (DQA) and a trong>betatrong> trong>chatrong>introng>trong> (DQB), both anchored trong>introng> the membrane. It plays a central role trong>introng> the immune system by presenttrong>introng>g peptides derived from extracellular protetrong>introng>s. Class II molecules are expressed trong>introng> antigen presenttrong>introng>g cells (APC: B lymphocytes, dendritic cells, macrophages). The trong>betatrong> trong>chatrong>introng>trong> is approximately 26-28 kDa and it contatrong>introng>s six exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domatrong>introng>s, exon 4 encodes the transmembrane domatrong>introng> and exon 5 encodes the cytoplasmic tail. Withtrong>introng> the DQ molecule both the alpha trong>chatrong>introng>trong> and the trong>betatrong> trong>chatrong>introng>trong> contatrong>introng> the polymorphisms specifytrong>introng>g the peptide btrong>introng>dtrong>introng>g specificities, resulttrong>introng>g trong>introng> up to four different molecules. Typtrong>introng>g for these polymorphisms is routtrong>introng>ely done for bone marrow transplantation. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Sep 2011]
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microsemtrong>introng>oprotetrong>introng>, trong>betatrong>-
The protetrong>introng> encoded by this gene is a member of the immunoglobultrong>introng> btrong>introng>dtrong>introng>g factor family. It is synthesized by the epithelial cells of the prostate gland and secreted trong>introng>to the semtrong>introng>al plasma. This protetrong>introng> has trong>introng>hibtrong>introng>-like activity. It may have a role as an autocrtrong>introng>e paracrtrong>introng>e factor trong>introng> utertrong>introng>e, breast and other female reproductive tissues. The expression of the encoded protetrong>introng> is found to be decreased trong>introng> prostate cancer. Two alternatively spliced transcript variants encodtrong>introng>g different isoforms are described for this gene. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]
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major histocompatibility complex, class II, DQ trong>betatrong> 3
Predicted to be trong>introng>volved trong>introng> adaptive immune response and antigen processtrong>introng>g and presentation of peptide or polysaccharide antigen via MHC class II. Predicted to be located trong>introng> endosome membrane and lysosomal membrane. Predicted to be part of MHC class II protetrong>introng> complex. [provided by Alliance of Genome Resources, Mar 2025]
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major histocompatibility complex, class II, DQ trong>betatrong> 2
HLA-DQB2 belongs to the family of HLA class II trong>betatrong> trong>chatrong>introng>trong> paralogs. Class II molecules are heterodimers consisttrong>introng>g of an alpha (DQA) and a trong>betatrong> trong>chatrong>introng>trong> (DQB), both anchored trong>introng> the membrane. They play a central role trong>introng> the immune system by presenttrong>introng>g peptides derived from extracellular protetrong>introng>s. Class II molecules are expressed trong>introng> antigen presenttrong>introng>g cells (APC: B lymphocytes, dendritic cells, macrophages). Polymorphisms trong>introng> the alpha and trong>betatrong> trong>chatrong>introng>trong>s specify the peptide btrong>introng>dtrong>introng>g specificity, and typtrong>introng>g for these polymorphisms is routtrong>introng>ely done for bone marrow transplantation. However this gene, HLA-DQB2, is not routtrong>introng>ely typed, as it is not thought to have an effect on transplantation. There is conflicttrong>introng>g evidence trong>introng> the literature and public sequence databases for the protetrong>introng>-codtrong>introng>g capacity of HLA-DQB2. Because there is evidence of transcription and an trong>introng>tact ORF, HLA-DQB2 is represented trong>introng> Entrez Gene and trong>introng> RefSeq as a protetrong>introng>-codtrong>introng>g locus. [provided by RefSeq, Oct 2010]
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calcium/calmodultrong>introng>-dependent protetrong>introng> ktrong>introng>ase ktrong>introng>ase 2, trong>betatrong>
The product of this gene belongs to the Sertrong>introng>e/Threontrong>introng>e protetrong>introng> ktrong>introng>ase family, and to the Ca(2+)/calmodultrong>introng>-dependent protetrong>introng> ktrong>introng>ase subfamily. The major isoform of this gene plays a role trong>introng> the calcium/calmodultrong>introng>-dependent (CaM) ktrong>introng>ase cascade by phosphorylattrong>introng>g the downstream ktrong>introng>ases CaMK1 and CaMK4. Protetrong>introng> products of this gene also phosphorylate AMP-activated protetrong>introng> ktrong>introng>ase (AMPK). This gene has its strongest expression trong>introng> the bratrong>introng> and trong>introng>fluences signalltrong>introng>g cascades trong>introng>volved with learntrong>introng>g and memory, neuronal differentiation and migration, neurite outgrowth, and synapse formation. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g disttrong>introng>ct isoforms. The identified isoforms differ trong>introng> their ability to undergo autophosphorylation and to phosphorylate downstream ktrong>introng>ases. [provided by RefSeq, Jul 2012]
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NADH dehydrogenase (ubiqutrong>introng>one) 1 trong>betatrong> subcomplex, 11, pseudogene 1
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proteasome (prosome, macropatrong>introng>) subunit, trong>betatrong> type, 9
The proteasome is a multicatalytic protetrong>introng>ase complex with a highly ordered rtrong>introng>g-shaped 20S core structure. The core structure is composed of 4 rtrong>introng>gs of 28 non-identical subunits; 2 rtrong>introng>gs are composed of 7 alpha subunits and 2 rtrong>introng>gs are composed of 7 trong>betatrong> subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides trong>introng> an ATP/ubiquittrong>introng>-dependent process trong>introng> a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processtrong>introng>g of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core trong>betatrong> subunit. This gene is located trong>introng> the class II region of the MHC (major histocompatibility complex). Expression of this gene is trong>introng>duced by gamma trong>introng>terferon and this gene product replaces catalytic subunit 1 (proteasome trong>betatrong> 6 subunit) trong>introng> the immunoproteasome. Proteolytic processtrong>introng>g is required to generate a mature subunit. [provided by RefSeq, Mar 2010]
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proteasome (prosome, macropatrong>introng>) subunit, trong>betatrong> type, 8
The proteasome is a multicatalytic protetrong>introng>ase complex with a highly ordered rtrong>introng>g-shaped 20S core structure. The core structure is composed of 4 rtrong>introng>gs of 28 non-identical subunits; 2 rtrong>introng>gs are composed of 7 alpha subunits and 2 rtrong>introng>gs are composed of 7 trong>betatrong> subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides trong>introng> an ATP/ubiquittrong>introng>-dependent process trong>introng> a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processtrong>introng>g of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core trong>betatrong> subunit. This gene is located trong>introng> the class II region of the MHC (major histocompatibility complex). Expression of this gene is trong>introng>duced by gamma trong>introng>terferon and this gene product replaces catalytic subunit 3 (proteasome trong>betatrong> 5 subunit) trong>introng> the immunoproteasome. Proteolytic processtrong>introng>g is required to generate a mature subunit. Two alternative transcripts encodtrong>introng>g two isoforms have been identified; both isoforms are processed to yield the same mature subunit. [provided by RefSeq, Jul 2008]
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proteasome (prosome, macropatrong>introng>) subunit, trong>betatrong> type, 7
The proteasome is a multicatalytic protetrong>introng>ase complex with a highly ordered rtrong>introng>g-shaped 20S core structure. The core structure is composed of 4 rtrong>introng>gs of 28 non-identical subunits; 2 rtrong>introng>gs are composed of 7 alpha subunits and 2 rtrong>introng>gs are composed of 7 trong>betatrong> subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides trong>introng> an ATP/ubiquittrong>introng>-dependent process trong>introng> a non-lysosomal pathway. The encoded protetrong>introng> is a member of the proteasome B-type family, also known as the T1B family, and is a 20S core trong>betatrong> subunit trong>introng> the proteasome. Expression of this catalytic subunit is downregulated by gamma trong>introng>terferon, and proteolytic processtrong>introng>g is required to generate a mature subunit. A pseudogene of this gene is located on the long arm of chromosome 14. [provided by RefSeq, Jul 2012]
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proteasome (prosome, macropatrong>introng>) subunit, trong>betatrong> type, 6
The proteasome is a multicatalytic protetrong>introng>ase complex with a highly ordered rtrong>introng>g-shaped 20S core structure. The core structure is composed of 4 rtrong>introng>gs of 28 non-identical subunits; 2 rtrong>introng>gs are composed of 7 alpha subunits and 2 rtrong>introng>gs are composed of 7 trong>betatrong> subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides trong>introng> an ATP/ubiquittrong>introng>-dependent process trong>introng> a non-lysosomal pathway. The encoded protetrong>introng> is a member of the proteasome B-type family, also known as the T1B family, and is a 20S core trong>betatrong> subunit trong>introng> the proteasome. Alternatively spliced transcript variants encodtrong>introng>g multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
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proteasome (prosome, macropatrong>introng>) subunit, trong>betatrong> type, 5
The proteasome is a multicatalytic protetrong>introng>ase complex with a highly ordered rtrong>introng>g-shaped 20S core structure. The core structure is composed of 4 rtrong>introng>gs of 28 non-identical subunits; 2 rtrong>introng>gs are composed of 7 alpha subunits and 2 rtrong>introng>gs are composed of 7 trong>betatrong> subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides trong>introng> an ATP/ubiquittrong>introng>-dependent process trong>introng> a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processtrong>introng>g of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core trong>betatrong> subunit trong>introng> the proteasome. This catalytic subunit is not present trong>introng> the immunoproteasome and is replaced by catalytic subunit 3i (proteasome trong>betatrong> 8 subunit). Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]
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proteasome (prosome, macropatrong>introng>) subunit, trong>betatrong> type, 4
The proteasome is a multicatalytic protetrong>introng>ase complex with a highly ordered rtrong>introng>g-shaped 20S core structure. The core structure is composed of 4 rtrong>introng>gs of 28 non-identical subunits; 2 rtrong>introng>gs are composed of 7 alpha subunits and 2 rtrong>introng>gs are composed of 7 trong>betatrong> subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides trong>introng> an ATP/ubiquittrong>introng>-dependent process trong>introng> a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processtrong>introng>g of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core trong>betatrong> subunit. [provided by RefSeq, Jul 2008]
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proteasome (prosome, macropatrong>introng>) subunit, trong>betatrong> type, 3
The proteasome is a multicatalytic protetrong>introng>ase complex with a highly ordered rtrong>introng>g-shaped 20S core structure. The core structure is composed of 4 rtrong>introng>gs of 28 non-identical subunits; 2 rtrong>introng>gs are composed of 7 alpha subunits and 2 rtrong>introng>gs are composed of 7 trong>betatrong> subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides trong>introng> an ATP/ubiquittrong>introng>-dependent process trong>introng> a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processtrong>introng>g of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core trong>betatrong> subunit. The 26 S proteasome may be trong>introng>volved trong>introng> trtrong>introng>ucleotide repeat expansion, a phenomenon which is associated with many hereditary neurological diseases. Pseudogenes have been identified on chromosomes 2 and 12. Alternative splictrong>introng>g results trong>introng> multiple transcript variants [provided by RefSeq, Sep 2013]
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proteasome (prosome, macropatrong>introng>) subunit, trong>betatrong> type, 2
The proteasome is a multicatalytic protetrong>introng>ase complex with a highly ordered rtrong>introng>g-shaped 20S core structure. The core structure is composed of 4 rtrong>introng>gs of 28 non-identical subunits; 2 rtrong>introng>gs are composed of 7 alpha subunits and 2 rtrong>introng>gs are composed of 7 trong>betatrong> subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides trong>introng> an ATP/ubiquittrong>introng>-dependent process trong>introng> a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processtrong>introng>g of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core trong>betatrong> subunit. Multiple alternatively spliced transcript variants encodtrong>introng>g disttrong>introng>ct isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
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proteasome (prosome, macropatrong>introng>) subunit, trong>betatrong> type, 1
The proteasome is a multicatalytic protetrong>introng>ase complex with a highly ordered rtrong>introng>g-shaped 20S core structure. The core structure is composed of 4 rtrong>introng>gs of 28 non-identical subunits; 2 rtrong>introng>gs are composed of 7 alpha subunits and 2 rtrong>introng>gs are composed of 7 trong>betatrong> subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides trong>introng> an ATP/ubiquittrong>introng>-dependent process trong>introng> a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processtrong>introng>g of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core trong>betatrong> subunit. This gene is tightly ltrong>introng>ked to the TBP (TATA-btrong>introng>dtrong>introng>g protetrong>introng>) gene trong>introng> human and trong>introng> mouse, and is transcribed trong>introng> the opposite orientation trong>introng> both species. [provided by RefSeq, Jul 2008]
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protetrong>introng> phosphatase 3, catalytic subunit, trong>betatrong> isozyme
Enables several functions, trong>introng>cludtrong>introng>g calmodultrong>introng> btrong>introng>dtrong>introng>g activity; calmodultrong>introng>-dependent protetrong>introng> phosphatase activity; and protetrong>introng> phosphatase 2B btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g calctrong>introng>eurtrong>introng>-NFAT signaltrong>introng>g cascade; positive regulation of lysosome organization; and positive regulation of protetrong>introng> localization to nucleus. Located trong>introng> cytoplasm. Part of calctrong>introng>eurtrong>introng> complex. Implicated trong>introng> aortic valve stenosis. Biomarker of focal segmental glomerulosclerosis and schizophrenia. [provided by Alliance of Genome Resources, Mar 2025]
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hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protetrong>introng>), trong>betatrong> subunit pseudogene
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succtrong>introng>ate-CoA ligase, ADP-formtrong>introng>g, trong>betatrong> subunit pseudogene
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enolase 3 (trong>betatrong>, muscle)
This gene encodes one of the three enolase isoenzymes found trong>introng> mammals. This isoenzyme is found trong>introng> skeletal muscle cells trong>introng> the adult where it may play a role trong>introng> muscle development and regeneration. A switch from alpha enolase to trong>betatrong> enolase occurs trong>introng> muscle tissue durtrong>introng>g development trong>introng> rodents. Mutations trong>introng> this gene have be associated glycogen storage disease. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been described.[provided by RefSeq, Jul 2010]
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cyclic nucleotide gated channel trong>betatrong> 1
trong>Introng> humans, the rod phototrong>receptortrong> cGMP-gated cation channel helps regulate ion flow trong>introng>to the rod phototrong>receptortrong> outer segment trong>introng> response to light-trong>introng>duced alteration of the levels of trong>introng>tracellular cGMP. This channel consists of two subunits, alpha and trong>betatrong>, with the protetrong>introng> encoded by this gene representtrong>introng>g the trong>betatrong> subunit. Defects trong>introng> this gene are a cause of cause of rettrong>introng>itis pigmentosa type 45. Three transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]
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ATPase, Na+/K+ transporttrong>introng>g, trong>betatrong> 3 polypeptide pseudogene
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LIM homeobox transcription factor 1, trong>betatrong>
This gene encodes a member of LIM-homeodomatrong>introng> family of protetrong>introng>s contatrong>introng>trong>introng>g two N-termtrong>introng>al ztrong>introng>c-btrong>introng>dtrong>introng>g LIM domatrong>introng>s, 1 homeodomatrong>introng>, and a C-termtrong>introng>al glutamtrong>introng>e-rich domatrong>introng>. It functions as a transcription factor, and is essential for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopamtrong>introng>ergic and serotonergic neurons. Mutations trong>introng> this gene are associated with nail-patella syndrome. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
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hydroxysteroid (17-trong>betatrong>) dehydrogenase 12 pseudogene
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heat shock protetrong>introng> 90kDa trong>betatrong> (Grp94), member 3, pseudogene
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lamtrong>introng>trong>introng>, trong>betatrong> 1
Lamtrong>introng>trong>introng>s, a family of extracellular matrix glycoprotetrong>introng>s, are the major noncollagenous constituent of basement membranes. They have been implicated trong>introng> a wide variety of biological processes trong>introng>cludtrong>introng>g cell adhesion, differentiation, migration, signaltrong>introng>g, neurite outgrowth and metastasis. Lamtrong>introng>trong>introng>s are composed of 3 non identical trong>chatrong>introng>trong>s: lamtrong>introng>trong>introng> alpha, trong>betatrong> and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisttrong>introng>g of 3 short arms, each formed by a different trong>chatrong>introng>trong>, and a long arm composed of all 3 trong>chatrong>introng>trong>s. Each lamtrong>introng>trong>introng> trong>chatrong>introng>trong> is a multidomatrong>introng> protetrong>introng> encoded by a disttrong>introng>ct gene. Several isoforms of each trong>chatrong>introng>trong> have been described. Different alpha, trong>betatrong> and gamma trong>chatrong>introng>trong> isomers combtrong>introng>e to give rise to different heterotrimeric lamtrong>introng>trong>introng> isoforms which are designated by Arabic numerals trong>introng> the order of their discovery, i.e. alpha1trong>betatrong>1gamma1 heterotrimer is lamtrong>introng>trong>introng> 1. The biological functions of the different trong>chatrong>introng>trong>s and trimer molecules are largely unknown, but some of the trong>chatrong>introng>trong>s have been shown to differ with respect to their tissue distribution, presumably reflecttrong>introng>g diverse functions trong>introng> vivo. This gene encodes the trong>betatrong> trong>chatrong>introng>trong> isoform lamtrong>introng>trong>introng>, trong>betatrong> 1. The trong>betatrong> 1 trong>chatrong>introng>trong> has 7 structurally disttrong>introng>ct domatrong>introng>s which it shares with other trong>betatrong> trong>chatrong>introng>trong> isomers. The C-termtrong>introng>al helical region contatrong>introng>trong>introng>g domatrong>introng>s I and II are separated by domatrong>introng> alpha, domatrong>introng>s III and V contatrong>introng> several EGF-like repeats, and domatrong>introng>s IV and VI have a globular conformation. Lamtrong>introng>trong>introng>, trong>betatrong> 1 is expressed trong>introng> most tissues that produce basement membranes, and is one of the 3 trong>chatrong>introng>trong>s constituttrong>introng>g lamtrong>introng>trong>introng> 1, the first lamtrong>introng>trong>introng> isolated from Engelbreth-Holm-Swarm (EHS) tumor. A sequence trong>introng> the trong>betatrong> 1 trong>chatrong>introng>trong> that is trong>introng>volved trong>introng> cell attachment, chemotaxis, and btrong>introng>dtrong>introng>g to the lamtrong>introng>trong>introng> trong>receptortrong> was identified and shown to have the capacity to trong>introng>hibit metastasis. [provided by RefSeq, Aug 2011]
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lamtrong>introng>trong>introng>, trong>betatrong> 3
The product encoded by this gene is a lamtrong>introng>trong>introng> that belongs to a family of basement membrane protetrong>introng>s. This protetrong>introng> is a trong>betatrong> subunit lamtrong>introng>trong>introng>, which together with an alpha and a gamma subunit, forms lamtrong>introng>trong>introng>-5. Mutations trong>introng> this gene cause epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized by blistertrong>introng>g of the sktrong>introng>. Multiple alternatively spliced transcript variants that encode the same protetrong>introng> have been found for this gene. [provided by RefSeq, Jul 2008]
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lamtrong>introng>trong>introng>, trong>betatrong> 2 (lamtrong>introng>trong>introng> S)
Lamtrong>introng>trong>introng>s, a family of extracellular matrix glycoprotetrong>introng>s, are the major noncollagenous constituent of basement membranes. They have been implicated trong>introng> a wide variety of biological processes trong>introng>cludtrong>introng>g cell adhesion, differentiation, migration, signaltrong>introng>g, neurite outgrowth and metastasis. Lamtrong>introng>trong>introng>s, composed of 3 non identical trong>chatrong>introng>trong>s: lamtrong>introng>trong>introng> alpha, trong>betatrong> and gamma (formerly A, B1, and B2, respectively), form a cruciform structure consisttrong>introng>g of 3 short arms, each formed by a different trong>chatrong>introng>trong>, and a long arm composed of all 3 trong>chatrong>introng>trong>s. Each lamtrong>introng>trong>introng> trong>chatrong>introng>trong> is a multidomatrong>introng> protetrong>introng> encoded by a disttrong>introng>ct gene. Several isoforms of each trong>chatrong>introng>trong> have been described. Different alpha, trong>betatrong> and gamma trong>chatrong>introng>trong> isomers combtrong>introng>e to give rise to different heterotrimeric lamtrong>introng>trong>introng> isoforms which are designated by Arabic numerals trong>introng> the order of their discovery, i.e. alpha1trong>betatrong>1gamma1 heterotrimer is lamtrong>introng>trong>introng> 1. The biological functions of the different trong>chatrong>introng>trong>s and trimer molecules are largely unknown, but some of the trong>chatrong>introng>trong>s have been shown to differ with respect to their tissue distribution, presumably reflecttrong>introng>g diverse functions trong>introng> vivo. This gene encodes the trong>betatrong> trong>chatrong>introng>trong> isoform lamtrong>introng>trong>introng>, trong>betatrong> 2. The trong>betatrong> 2 trong>chatrong>introng>trong> contatrong>introng>s the 7 structural domatrong>introng>s typical of trong>betatrong> trong>chatrong>introng>trong>s of lamtrong>introng>trong>introng>, trong>introng>cludtrong>introng>g the short alpha region. However, unlike trong>betatrong> 1 trong>chatrong>introng>trong>, trong>betatrong> 2 has a more restricted tissue distribution. It is enriched trong>introng> the basement membrane of muscles at the neuromuscular junctions, kidney glomerulus and vascular smooth muscle. Transgenic mice trong>introng> which the trong>betatrong> 2 trong>chatrong>introng>trong> gene was trong>introng>activated by homologous recombtrong>introng>ation, showed defects trong>introng> the maturation of neuromuscular junctions and impairment of glomerular filtration. Alternative splictrong>introng>g trong>introng>volvtrong>introng>g a non consensus 5' splice site (gc) trong>introng> the 5' UTR of this gene has been reported. It was suggested that trong>introng>efficient splictrong>introng>g of this first trong>introng>tron, which does not change the protetrong>introng> sequence, results trong>introng> a greater abundance of the unspliced form of the transcript than the spliced form. The full-length nature of the spliced transcript is not known. [provided by RefSeq, Aug 2011]
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lamtrong>introng>trong>introng>, trong>betatrong> 4
Predicted to be trong>introng>volved trong>introng> cell adhesion. Predicted to be located trong>introng> basement membrane and extracellular region. [provided by Alliance of Genome Resources, Mar 2025]
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ATPase, Cu++ transporttrong>introng>g, trong>betatrong> polypeptide
This gene is a member of the P-type cation transport ATPase family and encodes a protetrong>introng> with several membrane-spanntrong>introng>g domatrong>introng>s, an ATPase consensus sequence, a htrong>introng>ge domatrong>introng>, a phosphorylation site, and at least 2 putative copper-btrong>introng>dtrong>introng>g sites. This protetrong>introng> is a monomer, and functions as a copper-transporttrong>introng>g ATPase which exports copper out of the cells, such as the efflux of hepatic copper trong>introng>to the bile. Alternate transcriptional splice variants, encodtrong>introng>g different isoforms with disttrong>introng>ct cellular localizations, have been characterized. Mutations trong>introng> this gene have been associated with Wilson disease which is characterized by copper accumulation. [provided by RefSeq, Dec 2019]
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gap junction protetrong>introng>, trong>betatrong> 6, 30kDa
Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connextrong>introng> protetrong>introng>s assembled trong>introng> groups. Each connextrong>introng> protetrong>introng> has four transmembrane segments, two extracellular loops, a cytoplasmic loop formed between the two trong>introng>ner transmembrane segments, and the N- and C-termtrong>introng>us both betrong>introng>g trong>introng> the cytoplasm. The specificity of the gap junction is determtrong>introng>ed by which connextrong>introng> protetrong>introng>s comprise the hemichannel. trong>Introng> the past, connextrong>introng> protetrong>introng> names were based on their molecular weight, however the new nomenclature uses sequential numbers based on which form (alpha or trong>betatrong>) of the gap junction is present. This gene encodes one of the connextrong>introng> protetrong>introng>s. Mutations trong>introng> this gene have been found trong>introng> some forms of deafness and trong>introng> some families with hidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]
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major histocompatibility complex, class II, DM trong>betatrong>
HLA-DMB belongs to the HLA class II trong>betatrong> trong>chatrong>introng>trong> paralogues. This class II molecule is a heterodimer consisttrong>introng>g of an alpha (DMA) and a trong>betatrong> (DMB) trong>chatrong>introng>trong>, both anchored trong>introng> the membrane. It is located trong>introng> trong>introng>tracellular vesicles. DM plays a central role trong>introng> the peptide loadtrong>introng>g of MHC class II molecules by helptrong>introng>g to release the CLIP (class II-associated trong>introng>variant trong>chatrong>introng>trong> peptide) molecule from the peptide btrong>introng>dtrong>introng>g site. Class II molecules are expressed trong>introng> antigen presenttrong>introng>g cells (APC: B lymphocytes, dendritic cells, macrophages). The trong>betatrong> trong>chatrong>introng>trong> is approximately 26-28 kDa and its gene contatrong>introng>s 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domatrong>introng>s, exon 4 encodes the transmembrane domatrong>introng> and exon 5 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008]
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acetyl-CoA carboxylase trong>betatrong>
Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biottrong>introng>-contatrong>introng>trong>introng>g enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limittrong>introng>g step trong>introng> fatty acid synthesis. ACC-trong>betatrong> is thought to control fatty acid oxidation by means of the ability of malonyl-CoA to trong>introng>hibit carnittrong>introng>e-palmitoyl-CoA transferase I, the rate-limittrong>introng>g step trong>introng> fatty acid uptake and oxidation by mitochondria. ACC-trong>betatrong> may be trong>introng>volved trong>introng> the regulation of fatty acid oxidation, rather than fatty acid biosynthesis. [provided by RefSeq, Oct 2022]
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glucuronidase, trong>betatrong> pseudogene 5
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glucuronidase, trong>betatrong> pseudogene 4
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glucuronidase, trong>betatrong> pseudogene 7
|
glucuronidase, trong>betatrong> pseudogene 1
Predicted to be trong>introng>volved trong>introng> nervous system development and skeletal system development. [provided by Alliance of Genome Resources, Mar 2025]
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glucuronidase, trong>betatrong> pseudogene 3
|
glucuronidase, trong>betatrong> pseudogene 2
|
glucuronidase, trong>betatrong> pseudogene 9
|
glucuronidase, trong>betatrong> pseudogene 8
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regenerattrong>introng>g islet-derived 1 trong>betatrong>
This gene is a type I subclass member of the Reg gene family. The Reg gene family is a multigene family grouped trong>introng>to four subclasses, types I, II, III and IV based on the primary structures of the encoded protetrong>introng>s. This gene encodes a protetrong>introng> secreted by the exocrtrong>introng>e pancreas that is highly similar to the REG1A protetrong>introng>. The related REG1A protetrong>introng> is associated with islet cell regeneration and diabetogenesis, and may be trong>introng>volved trong>introng> pancreatic lithogenesis. Reg family members REG1A, REGL, PAP and this gene are tandemly clustered on chromosome 2p12 and may have arisen from the same ancestral gene by gene duplication. [provided by RefSeq, Jul 2008]
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acttrong>introng>, trong>betatrong> pseudogene 8
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acttrong>introng>, trong>betatrong> pseudogene 9
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acttrong>introng>, trong>betatrong> pseudogene 3
|
acttrong>introng>, trong>betatrong> pseudogene 4
|
acttrong>introng>, trong>betatrong> pseudogene 6
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acttrong>introng>, trong>betatrong> pseudogene 7
|
acttrong>introng>, trong>betatrong> pseudogene
|
tubultrong>introng>, trong>betatrong> 8 class VIII pseudogene 10
|
diacylglycerol lipase, trong>betatrong>
Enables lipase activity. trong>Introng>volved trong>introng> arachidonate metabolic process. Located trong>introng> nucleoplasm and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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Rab geranylgeranyltransferase, trong>betatrong> subunit pseudogene
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lamtrong>introng>trong>introng> subunit trong>betatrong>-2-like
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cystetrong>introng>e conjugate-trong>betatrong> lyase, cytoplasmic
This gene encodes a cytosolic enzyme that is responsible for the metabolism of cystetrong>introng>e conjugates of certatrong>introng> halogenated alkenes and alkanes. This metabolism can form reactive metabolites leadtrong>introng>g to nephrotoxicity and neurotoxicity. trong>Introng>creased levels of this enzyme have been ltrong>introng>ked to schizophrenia. Multiple transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
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cystetrong>introng>e conjugate-trong>betatrong> lyase 2
This gene encodes an amtrong>introng>otransferase that transamtrong>introng>ates kynurentrong>introng>e to form kynurenic acid, which is a metabolite of tryptophan. Multiple alternatively spliced transcript variants that encode different protetrong>introng>s have been described for this gene. This gene shares 5' exon structure with the RNA btrong>introng>dtrong>introng>g motif protetrong>introng>, X-ltrong>introng>ked-like 1 locus on chromosome 1, but the codtrong>introng>g sequences are non-overlapptrong>introng>g. [provided by RefSeq, Mar 2017]
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ALG1, chitobiosyldiphosphodolichol trong>betatrong>-mannosyltransferase
The enzyme encoded by this gene catalyzes the first mannosylation step trong>introng> the biosynthesis of lipid-ltrong>introng>ked oligosaccharides. This gene is mutated trong>introng> congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008]
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ALG5, dolichyl-phosphate trong>betatrong>-glucosyltransferase
This gene encodes a member of the glycosyltransferase 2 family. The encoded protetrong>introng> participates trong>introng> glucosylation of the oligomannose core trong>introng> N-ltrong>introng>ked glycosylation of protetrong>introng>s. The addition of glucose residues to the oligomannose core is necessary to ensure substrate recognition, and therefore, effectual transfer of the oligomannose core to the nascent glycoprotetrong>introng>s. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
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eukaryotic translation elongation factor 1 trong>betatrong> 2 pseudogene 4
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eukaryotic translation elongation factor 1 trong>betatrong> 2 pseudogene 7
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defenstrong>introng>, trong>betatrong> 135
Defenstrong>introng>s are cystetrong>introng>e-rich cationic polypeptides that are important trong>introng> the immunologic response to trong>introng>vadtrong>introng>g microorganisms. The antimicrobial protetrong>introng> encoded by this gene is secreted and is a member of the trong>betatrong> defenstrong>introng> protetrong>introng> family. trong>Betatrong> defenstrong>introng> genes are found trong>introng> several clusters throughout the genome, with this gene mapptrong>introng>g to a cluster at 8p23. [provided by RefSeq, Nov 2014]
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defenstrong>introng>, trong>betatrong> 136
Defenstrong>introng>s are cystetrong>introng>e-rich cationic polypeptides that are important trong>introng> the immunologic response to trong>introng>vadtrong>introng>g microorganisms. The antimicrobial protetrong>introng> encoded by this gene is secreted and is a member of the trong>betatrong> defenstrong>introng> protetrong>introng> family. trong>Betatrong> defenstrong>introng> genes are found trong>introng> several clusters throughout the genome, with this gene mapptrong>introng>g to a cluster at 8p23. [provided by RefSeq, Nov 2014]
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defenstrong>introng>, trong>betatrong> 130
Defenstrong>introng>s are cystetrong>introng>e-rich cationic polypeptides that are important trong>introng> the immunologic response to trong>introng>vadtrong>introng>g microorganisms. The antimicrobial protetrong>introng> encoded by this gene is secreted and is a member of the trong>betatrong> defenstrong>introng> protetrong>introng> family. trong>Betatrong> defenstrong>introng> genes are found trong>introng> several clusters throughout the genome, with this gene mapptrong>introng>g to a cluster at 8p23. [provided by RefSeq, Nov 2014]
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defenstrong>introng>, trong>betatrong> 132
Defenstrong>introng>s are cystetrong>introng>e-rich cationic polypeptides that are important trong>introng> the immunologic response to trong>introng>vadtrong>introng>g microorganisms. The protetrong>introng> encoded by this gene is secreted and is a member of the trong>betatrong> defenstrong>introng> protetrong>introng> family. This protetrong>introng> btrong>introng>ds spermatozoa and has antimicrobial activity agatrong>introng>st E. coli. trong>Betatrong> defenstrong>introng> genes are found trong>introng> several clusters throughout the genome, with this gene mapptrong>introng>g to a cluster at 20p13. [provided by RefSeq, Nov 2014]
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defenstrong>introng>, trong>betatrong> 133
Predicted to enable CCR6 chemoktrong>introng>e trong>receptortrong> btrong>introng>dtrong>introng>g activity and chemoattractant activity. Predicted to be trong>introng>volved trong>introng> cell chemotaxis and defense response to bacterium. Predicted to be located trong>introng> extracellular region. Predicted to be active trong>introng> extracellular space. [provided by Alliance of Genome Resources, Mar 2025]
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tryptase alpha/trong>betatrong> 1
Tryptases comprise a family of trypstrong>introng>-like sertrong>introng>e proteases, the peptidase family S1. Tryptases are enzymatically active only as hepartrong>introng>-stabilized tetramers, and they are resistant to all known endogenous protetrong>introng>ase trong>introng>hibitors. Several tryptase genes are clustered on chromosome 16p13.3. These genes are characterized by several disttrong>introng>ct features. They have a highly conserved 3' UTR and contatrong>introng> tandem repeat sequences at the 5' flank and 3' UTR which are thought to play a role trong>introng> regulation of the mRNA stability. These genes have an trong>introng>tron immediately upstream of the trong>introng>itiator Met codon, which separates the site of transcription trong>introng>itiation from protetrong>introng> codtrong>introng>g sequence. This feature is characteristic of tryptases but is unusual trong>introng> other genes. The alleles of this gene exhibit an unusual amount of sequence variation, such that the alleles were once thought to represent two separate genes, alpha and trong>betatrong> 1. trong>Betatrong> tryptases appear to be the matrong>introng> isoenzymes expressed trong>introng> mast cells; whereas trong>introng> basophils, alpha tryptases predomtrong>introng>ate. Tryptases have been implicated as mediators trong>introng> the pathogenesis of asthma and other allergic and trong>introng>flammatory disorders. [provided by RefSeq, Jul 2008]
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NADH dehydrogenase (ubiqutrong>introng>one) 1 trong>betatrong> subcomplex, 1 pseudogene 2
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trong>betatrong>-1,3-N-acetylgalactosamtrong>introng>yltransferase 1 pseudogene 1
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nuclear transcription factor Y, trong>betatrong>
The protetrong>introng> encoded by this gene is one subunit of a trimeric complex, formtrong>introng>g a highly conserved transcription factor that btrong>introng>ds with high specificity to CCAAT motifs trong>introng> the promoter regions trong>introng> a variety of genes. This gene product, subunit B, forms a tight dimer with the C subunit, a prerequisite for subunit A association. The resulttrong>introng>g trimer btrong>introng>ds to DNA with high specificity and afftrong>introng>ity. Subunits B and C each contatrong>introng> a histone-like motif. Observation of the histone nature of these subunits is supported by two types of evidence; protetrong>introng> sequence alignments and experiments with mutants. [provided by RefSeq, Jul 2008]
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potassium channel subfamily M regulatory trong>betatrong> subunit 3 pseudogene 1
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pregnancy specific trong>betatrong>-1-glycoprotetrong>introng> 8
The human pregnancy-specific glycoprotetrong>introng>s (PSGs) are a group of molecules that are matrong>introng>ly produced by the placental syncytiotrophoblasts durtrong>introng>g pregnancy. PSGs comprise a subgroup of the carctrong>introng>oembryonic antigen (CEA) family, which belongs to the immunoglobultrong>introng> superfamily. For additional general trong>introng>formation about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009]
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pregnancy specific trong>betatrong>-1-glycoprotetrong>introng> 9
The protetrong>introng> encoded by this gene is a member of the pregnancy-specific glycoprotetrong>introng> (PSG) family. This protetrong>introng> family and the closely related carctrong>introng>oembryonic antigen cell adhesion molecule (CEACAM) gene family are both members of the immunoglobultrong>introng> superfamily, and are organized as a large gene cluster. This protetrong>introng> is thought to trong>introng>hibit platelet-fibrtrong>introng>ogen trong>introng>teractions. Several studies suggest that reduced serum concentrations of PSGs are associated with fetal growth restrictions, while up-regulation of this gene has been observed trong>introng> colorectal cancers. Several pseudogenes of this gene are found on chromosome 19. Alternative splictrong>introng>g results trong>introng> multiple transcript variants that encode multiple protetrong>introng> isoforms. [provided by RefSeq, Sep 2014]
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pregnancy specific trong>betatrong>-1-glycoprotetrong>introng> 6
This gene is a member of the pregnancy-specific glycoprotetrong>introng> (PSG) gene family. The PSG genes are a subgroup of the carctrong>introng>oembryonic antigen (CEA) family of immunoglobultrong>introng>-like genes, and are found trong>introng> a gene cluster at 19q13.1-q13.2 telomeric to another cluster of CEA-related genes. The PSG genes are expressed by placental trophoblasts and released trong>introng>to the maternal circulation durtrong>introng>g pregnancy, and are thought to be essential for matrong>introng>tenance of normal pregnancy. The protetrong>introng> encoded by this gene contatrong>introng>s the Arg-Gly-Asp tripeptide associated with cellular adhesion and recognition. Alternative splictrong>introng>g results trong>introng> multiple transcript variants and protetrong>introng> isoforms. [provided by RefSeq, Jul 2012]
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pregnancy specific trong>betatrong>-1-glycoprotetrong>introng> 7 (gene/pseudogene)
This gene is a member of the pregnancy-specific glycoprotetrong>introng> (PSG) gene family. The PSG genes are a subgroup of the carctrong>introng>oembryonic antigen (CEA) family of immunoglobultrong>introng>-like genes, and are found trong>introng> a gene cluster at 19q13.1-q13.2 telomeric to another cluster of CEA-related genes. The PSG genes are expressed by placental trophoblasts and released trong>introng>to the maternal circulation durtrong>introng>g pregnancy, and are thought to be essential for matrong>introng>tenance of normal pregnancy. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Feb 2014]
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pregnancy specific trong>betatrong>-1-glycoprotetrong>introng> 4
The protetrong>introng> encoded by this gene is a pregnancy-specific glycoprotetrong>introng> (PSG), one of several encoded by a cluster of similar genes on chromosome 19. This gene is a member of the carctrong>introng>oembryonic antigen (CEA) gene family and may play a role trong>introng> regulation of the trong>introng>nate immune system. Several transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
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pregnancy specific trong>betatrong>-1-glycoprotetrong>introng> 5
The human pregnancy-specific glycoprotetrong>introng>s (PSGs) are a group of molecules that are matrong>introng>ly produced by the placental syncytiotrophoblasts durtrong>introng>g pregnancy. PSGs comprise a subgroup of the carctrong>introng>oembryonic antigen (CEA) family, which belongs to the immunoglobultrong>introng> superfamily. For additional general trong>introng>formation about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009]
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pregnancy specific trong>betatrong>-1-glycoprotetrong>introng> 2
The human pregnancy-specific glycoprotetrong>introng>s (PSGs) are a family of protetrong>introng>s that are synthesized trong>introng> large amounts by placental trophoblasts and released trong>introng>to the maternal circulation durtrong>introng>g pregnancy. Molecular clontrong>introng>g and analysis of several PSG genes has trong>introng>dicated that the PSGs form a subgroup of the carctrong>introng>oembryonic antigen (CEA) gene family, which belongs to the immunoglobultrong>introng> superfamily of genes. Members of the CEA family consist of a strong>introng>gle N domatrong>introng>, with structural similarity to the immunoglobultrong>introng> variable domatrong>introng>s, followed by a variable number of immunoglobultrong>introng> constant-like A and/or B domatrong>introng>s. Most PSGs have an arg-gly-asp (RGD) motif, which has been shown to function as an adhesion recognition signal for several trong>introng>tegrtrong>introng>s, trong>introng> the N-termtrong>introng>al domatrong>introng> (summary by Teglund et al., 1994 [PubMed 7851896]). For additional general trong>introng>formation about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009]
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pregnancy specific trong>betatrong>-1-glycoprotetrong>introng> 3
The human pregnancy-specific glycoprotetrong>introng>s (PSGs) are a family of protetrong>introng>s that are synthesized trong>introng> large amounts by placental trophoblasts and released trong>introng>to the maternal circulation durtrong>introng>g pregnancy. Molecular clontrong>introng>g and analysis of several PSG genes has trong>introng>dicated that the PSGs form a subgroup of the carctrong>introng>oembryonic antigen (CEA) gene family, which belongs to the immunoglobultrong>introng> superfamily of genes. Members of the CEA family consist of a strong>introng>gle N domatrong>introng>, with structural similarity to the immunoglobultrong>introng> variable domatrong>introng>s, followed by a variable number of immunoglobultrong>introng> constant-like A and/or B domatrong>introng>s. Most PSGs have an arg-gly-asp (RGD) motif, which has been shown to function as an adhesion recognition signal for several trong>introng>tegrtrong>introng>s, trong>introng> the N-termtrong>introng>al domatrong>introng> (summary by Teglund et al., 1994 [PubMed 7851896]). For additional general trong>introng>formation about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009]
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pregnancy specific trong>betatrong>-1-glycoprotetrong>introng> 1
The human placenta is a multihormonal endocrtrong>introng>e organ that produces hormones, enzymes, and other molecules that support fetal survival and development. Pregnancy-specific trong>betatrong>-1-glycoprotetrong>introng> (PSBG, PSG) is a major product of the syncytiotrophoblast, reachtrong>introng>g concentrations of 100 to 290 mg/l at term trong>introng> the serum of pregnant women (Horne et al., 1976 [PubMed 971765]). PSG is a member of the immunoglobultrong>introng> (Ig) superfamily (Watanabe and Chou, 1988 [PubMed 3257488]; Streydio et al., 1988 [PubMed 3260773]).[supplied by OMIM, Oct 2009]
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ATPase, H+/K+ exchangtrong>introng>g, trong>betatrong> polypeptide pseudogene
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proteasome (prosome, macropatrong>introng>) subunit, trong>betatrong> type, 3 pseudogene
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NADH dehydrogenase (ubiqutrong>introng>one) 1 trong>betatrong> subcomplex, 4, 15kDa pseudogene 1
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lamtrong>introng>trong>introng>, trong>betatrong> 2 pseudogene 1
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hydroxysteroid (11-trong>betatrong>) dehydrogenase 2
There are at least two isozymes of the corticosteroid 11-trong>betatrong>-dehydrogenase, a microsomal enzyme complex responsible for the trong>introng>terconversion of cortisol and cortisone. The type I isozyme has both 11-trong>betatrong>-dehydrogenase (cortisol to cortisone) and 11-oxoreductase (cortisone to cortisol) activities. The type II isozyme, encoded by this gene, has only 11-trong>betatrong>-dehydrogenase activity. trong>Introng> aldosterone-selective epithelial tissues such as the kidney, the type II isozyme catalyzes the glucocorticoid cortisol to the trong>introng>active metabolite cortisone, thus preventtrong>introng>g illicit activation of the mtrong>introng>eralocorticoid trong>receptortrong>. trong>Introng> tissues that do not express the mtrong>introng>eralocorticoid trong>receptortrong>, such as the placenta and testis, it protects cells from the growth-trong>introng>hibittrong>introng>g and/or pro-apoptotic effects of cortisol, particularly durtrong>introng>g embryonic development. Mutations trong>introng> this gene cause the syndrome of apparent mtrong>introng>eralocorticoid excess and hypertension. [provided by RefSeq, Feb 2010]
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hydroxysteroid (11-trong>betatrong>) dehydrogenase 1
The protetrong>introng> encoded by this gene is a microsomal enzyme that catalyzes the conversion of the stress hormone cortisol to the trong>introng>active metabolite cortisone. trong>Introng> addition, the encoded protetrong>introng> can catalyze the reverse reaction, the conversion of cortisone to cortisol. Too much cortisol can lead to central obesity, and a particular variation trong>introng> this gene has been associated with obesity and trong>introng>sultrong>introng> resistance trong>introng> children. Mutations trong>introng> this gene and H6PD (hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)) are the cause of cortisone reductase deficiency. Alternate splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g the same protetrong>introng>.[provided by RefSeq, May 2011]
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guanylate cyclase 1, soluble, trong>betatrong> 2 (pseudogene)
Predicted to enable guanylate cyclase activity. Predicted to be trong>introng>volved trong>introng> cGMP-mediated signaltrong>introng>g and response to oxygen levels. Predicted to be located trong>introng> cytosol. Predicted to be part of guanylate cyclase complex, soluble. [provided by Alliance of Genome Resources, Mar 2025]
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sodium channel, voltage gated, type I trong>betatrong> subunit
Voltage-gated sodium channels are heteromeric protetrong>introng>s that function trong>introng> the generation and propagation of action potentials trong>introng> muscle and neuronal cells. They are composed of one alpha and two trong>betatrong> subunits, where the alpha subunit provides channel activity and the trong>betatrong>-1 subunit modulates the ktrong>introng>etics of channel trong>introng>activation. This gene encodes a sodium channel trong>betatrong>-1 subunit. Mutations trong>introng> this gene result trong>introng> generalized epilepsy with febrile seizures plus, Brugada syndrome 5, and defects trong>introng> cardiac conduction. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
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TGF-trong>betatrong> activated ktrong>introng>ase 1/MAP3K7 btrong>introng>dtrong>introng>g protetrong>introng> 3 pseudogene 1
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nuclear factor of kappa light polypeptide gene enhancer trong>introng> B-cells trong>introng>hibitor, trong>betatrong>
The protetrong>introng> encoded by this gene belongs to the NF-kappa-B trong>introng>hibitor family, which trong>introng>hibit NF-kappa-B by complextrong>introng>g with, and trapptrong>introng>g it trong>introng> the cytoplasm. Phosphorylation of sertrong>introng>e residues on these protetrong>introng>s by ktrong>introng>ases marks them for destruction via the ubiquittrong>introng>ation pathway, thereby allowtrong>introng>g activation of the NF-kappa-B, which translocates to the nucleus to function as a transcription factor. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jul 2011]
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UDP-GlcNAc:trong>betatrong>Gal trong>betatrong>-1,3-N-acetylglucosamtrong>introng>yltransferase-like protetrong>introng> 1
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trong>betatrong>-1,4-N-acetyl-galactosamtrong>introng>yl transferase 4
Enables acetylgalactosamtrong>introng>yltransferase activity. Predicted to be located trong>introng> Golgi cisterna membrane. [provided by Alliance of Genome Resources, Mar 2025]
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trong>betatrong>-1,4-N-acetyl-galactosamtrong>introng>yl transferase 1
GM2 and GD2 gangliosides are sialic acid-contatrong>introng>trong>introng>g glycosphtrong>introng>golipids. GalNAc-T is the enzyme trong>introng>volved trong>introng> the biosynthesis of G(M2) and G(D2) glycosphtrong>introng>golipids. GalNAc-T catalyzes the transfer of GalNAc trong>introng>to G(M3) and G(D3) by a trong>betatrong>-1,4 ltrong>introng>kage, resulttrong>introng>g trong>introng> the synthesis of G(M2) and G(D2), respectively. Three transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]
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trong>betatrong>-1,4-N-acetyl-galactosamtrong>introng>yl transferase 2
B4GALNT2 catalyzes the last step trong>introng> the biosynthesis of the human Sd(a) antigen through the addition of an N-acetylgalactosamtrong>introng>e residue via a trong>betatrong>-1,4 ltrong>introng>kage to a subtermtrong>introng>al galactose residue substituted with an alpha-2,3-ltrong>introng>ked sialic acid. B4GALNT2 also catalyzes the last step trong>introng> the biosynthesis of the Cad antigen (Montiel et al., 2003 [PubMed 12678917]).[supplied by OMIM, Mar 2008]
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trong>betatrong>-1,4-N-acetyl-galactosamtrong>introng>yl transferase 3
B4GALNT3 transfers N-acetylgalactosamtrong>introng>e (GalNAc) onto glucosyl residues to form N,N-prime-diacetyllactosediamtrong>introng>e (LacdiNAc, or LDN), a unique termtrong>introng>al structure of cell surface N-glycans (Ikehara et al., 2006 [PubMed 16728562]).[supplied by OMIM, Aug 2008]
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glucosidase, trong>betatrong>, acid pseudogene 1
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tyrostrong>introng>e 3-monooxygenase/tryptophan 5-monooxygenase activation protetrong>introng>, trong>betatrong>
This gene encodes a protetrong>introng> belongtrong>introng>g to the 14-3-3 family of protetrong>introng>s, members of which mediate signal transduction by btrong>introng>dtrong>introng>g to phosphosertrong>introng>e-contatrong>introng>trong>introng>g protetrong>introng>s. This highly conserved protetrong>introng> family is found trong>introng> both plants and mammals. The encoded protetrong>introng> has been shown to trong>introng>teract with RAF1 and CDC25 phosphatases, suggesttrong>introng>g that it may play a role trong>introng> ltrong>introng>ktrong>introng>g mitogenic signaltrong>introng>g and the cell cycle machtrong>introng>ery. Two transcript variants, which encode the same protetrong>introng>, have been identified for this gene. [provided by RefSeq, Jul 2008]
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RFNG O-fucosylpeptide 3-trong>betatrong>-N-acetylglucosamtrong>introng>yltransferase
Predicted to enable O-fucosylpeptide 3-trong>betatrong>-N-acetylglucosamtrong>introng>yltransferase activity. Predicted to be trong>introng>volved trong>introng> regulation of Notch signaltrong>introng>g pathway. Predicted to act upstream of or withtrong>introng> positive regulation of Notch signaltrong>introng>g pathway. Predicted to be located trong>introng> extracellular region. [provided by Alliance of Genome Resources, Mar 2025]
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sodium channel, non voltage gated 1 trong>betatrong> subunit
Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia trong>introng> many organs. These channels are heteromeric complexes consisttrong>introng>g of 3 subunits: alpha, trong>betatrong>, and gamma. This gene encodes the trong>betatrong> subunit, and mutations trong>introng> this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome. [provided by RefSeq, Apr 2009]
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sertrong>introng>e/threontrong>introng>e-protetrong>introng> phosphatase 2A regulatory subunit B'' subunit trong>betatrong>
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activattrong>introng>g transcription factor 6 trong>betatrong>
The protetrong>introng> encoded by this gene is a transcription factor trong>introng> the unfolded protetrong>introng> response (UPR) pathway durtrong>introng>g ER stress. Either as a homodimer or as a heterodimer with ATF6-alpha, the encoded protetrong>introng> btrong>introng>ds to the ER stress response element, trong>introng>teracttrong>introng>g with nuclear transcription factor Y to activate UPR target genes. The protetrong>introng> is normally found trong>introng> the membrane of the endoplasmic reticulum; however, under ER stress, the N-termtrong>introng>al cytoplasmic domatrong>introng> is cleaved from the rest of the protetrong>introng> and translocates to the nucleus. Two transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
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defenstrong>introng>, trong>betatrong> 131 pseudogene
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galactosidase, trong>betatrong> 1-like 2
Predicted to enable trong>betatrong>-galactosidase activity. Predicted to be trong>introng>volved trong>introng> galactose catabolic process. Predicted to be located trong>introng> extracellular region. Predicted to be active trong>introng> vacuole. [provided by Alliance of Genome Resources, Mar 2025]
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galactosidase, trong>betatrong> 1-like 3
Predicted to enable trong>betatrong>-galactosidase activity. Predicted to be trong>introng>volved trong>introng> galactose catabolic process. Predicted to be active trong>introng> vacuole. [provided by Alliance of Genome Resources, Mar 2025]
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crystalltrong>introng>, trong>betatrong> A2
Crystalltrong>introng>s are separated trong>introng>to two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major protetrong>introng>s of the vertebrate eye, which function to matrong>introng>tatrong>introng> the transparency and refractive trong>introng>dex of the lens. Strong>introng>ce lens central fiber cells lose their nuclei durtrong>introng>g development, these crystalltrong>introng>s are made and then retatrong>introng>ed throughout life, maktrong>introng>g them extremely stable protetrong>introng>s. Mammalian lens crystalltrong>introng>s are divided trong>introng>to alpha, trong>betatrong>, and gamma families; trong>betatrong> and gamma crystalltrong>introng>s are also deftrong>introng>ed as a superfamily. Alpha and trong>betatrong> families are further divided trong>introng>to acidic and basic groups. Seven protetrong>introng> regions exist trong>introng> crystalltrong>introng>s: four homologous motifs, a connecttrong>introng>g peptide, and N- and C-termtrong>introng>al extensions. trong>Betatrong>-crystalltrong>introng>s, the most heterogeneous, differ by the presence of the C-termtrong>introng>al extension (present trong>introng> the basic group but absent trong>introng> the acidic group). trong>Betatrong>-crystalltrong>introng>s form aggregates of different sizes and are able to form homodimers through self-association or heterodimers with other trong>betatrong>-crystalltrong>introng>s. This gene is a trong>betatrong> acidic group member. Three alternatively spliced transcript variants encodtrong>introng>g identical protetrong>introng>s have been reported. [provided by RefSeq, Jul 2008]
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crystalltrong>introng>, trong>betatrong> A1
Crystalltrong>introng>s are separated trong>introng>to two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major protetrong>introng>s of vertebrate eye lens and matrong>introng>tatrong>introng>s the transparency and refractive trong>introng>dex of the lens. Strong>introng>ce lens central fiber cells lose their nuclei durtrong>introng>g development, these crystalltrong>introng>s are made and then retatrong>introng>ed throughout life, maktrong>introng>g them extremely stable protetrong>introng>s. Mammalian lens crystalltrong>introng>s are divided trong>introng>to alpha, trong>betatrong>, and gamma families; trong>betatrong> and gamma crystalltrong>introng>s are also considered as a superfamily. Alpha and trong>betatrong> families are further divided trong>introng>to acidic and basic groups. Seven protetrong>introng> regions exist trong>introng> crystalltrong>introng>s: four homologous motifs, a connecttrong>introng>g peptide, and N- and C-termtrong>introng>al extensions. trong>Betatrong>-crystalltrong>introng>s, the most heterogeneous, differ by the presence of the C-termtrong>introng>al extension (present trong>introng> the basic group, none trong>introng> the acidic group). trong>Betatrong>-crystalltrong>introng>s form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other trong>betatrong>-crystalltrong>introng>s. This gene, a trong>betatrong> acidic group member, encodes two protetrong>introng>s (crystalltrong>introng>, trong>betatrong> A3 and crystalltrong>introng>, trong>betatrong> A1) from a strong>introng>gle mRNA, the latter protetrong>introng> is 17 aa shorter than crystalltrong>introng>, trong>betatrong> A3 and is generated by use of an alternate translation trong>introng>itiation site. Deletion of exons 3 and 4 causes the autosomal domtrong>introng>ant disease 'zonular cataract with sutural opacities'. [provided by RefSeq, Jul 2008]
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crystalltrong>introng>, trong>betatrong> A4
Crystalltrong>introng>s are separated trong>introng>to two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major protetrong>introng>s of vertebrate eye lens and matrong>introng>tatrong>introng>s the transparency and refractive trong>introng>dex of the lens. Strong>introng>ce lens central fiber cells lose their nuclei durtrong>introng>g development, these crystalltrong>introng>s are made and then retatrong>introng>ed throughout life, maktrong>introng>g them extremely stable protetrong>introng>s. Mammalian lens crystalltrong>introng>s are divided trong>introng>to alpha, trong>betatrong>, and gamma families; trong>betatrong> and gamma crystalltrong>introng>s are also considered as a superfamily. Alpha and trong>betatrong> families are further divided trong>introng>to acidic and basic groups. Seven protetrong>introng> regions exist trong>introng> crystalltrong>introng>s: four homologous motifs, a connecttrong>introng>g peptide, and N- and C-termtrong>introng>al extensions. trong>Betatrong>-crystalltrong>introng>s, the most heterogeneous, differ by the presence of the C-termtrong>introng>al extension (present trong>introng> the basic group, none trong>introng> the acidic group). trong>Betatrong>-crystalltrong>introng>s form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other trong>betatrong>-crystalltrong>introng>s. This gene, a trong>betatrong> acidic group member, is part of a gene cluster with trong>betatrong>-B1, trong>betatrong>-B2, and trong>betatrong>-B3. [provided by RefSeq, Jul 2008]
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trong>betatrong>-transductrong>introng> repeat contatrong>introng>trong>introng>g E3 ubiquittrong>introng> protetrong>introng> ligase pseudogene 1
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adaptor-related protetrong>introng> complex 5, trong>betatrong> 1 subunit
trong>Introng>volved trong>introng> endosomal transport. Located trong>introng> lysosomal membrane. Part of AP-type membrane coat adaptor complex. [provided by Alliance of Genome Resources, Mar 2025]
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trong>introng>tegrtrong>introng>, trong>betatrong> 3 (platelet glycoprotetrong>introng> IIIa, antigen CD61)
The ITGB3 protetrong>introng> product is the trong>introng>tegrtrong>introng> trong>betatrong> trong>chatrong>introng>trong> trong>betatrong> 3. trong>Introng>tegrtrong>introng>s are trong>introng>tegral cell-surface protetrong>introng>s composed of an alpha trong>chatrong>introng>trong> and a trong>betatrong> trong>chatrong>introng>trong>. A given trong>chatrong>introng>trong> may combtrong>introng>e with multiple partners resulttrong>introng>g trong>introng> different trong>introng>tegrtrong>introng>s. trong>Introng>tegrtrong>introng> trong>betatrong> 3 is found along with the alpha IIb trong>chatrong>introng>trong> trong>introng> platelets. trong>Introng>tegrtrong>introng>s are known to participate trong>introng> cell adhesion as well as cell-surface mediated signalltrong>introng>g. [provided by RefSeq, Jul 2008]
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trong>introng>tegrtrong>introng>, trong>betatrong> 5
This gene encodes a trong>betatrong> subunit of trong>introng>tegrtrong>introng>, which can combtrong>introng>e with different alpha trong>chatrong>introng>trong>s to form a variety of trong>introng>tegrtrong>introng> heterodimers. trong>Introng>tegrtrong>introng>s are trong>introng>tegral cell-surface trong>receptortrong>s that participate trong>introng> cell adhesion as well as cell-surface mediated signaltrong>introng>g. The alphav trong>betatrong>5 trong>introng>tegrtrong>introng> is trong>introng>volved trong>introng> adhesion to vitronecttrong>introng>. [provided by RefSeq, Aug 2017]
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trong>introng>tegrtrong>introng>, trong>betatrong> 4
trong>Introng>tegrtrong>introng>s are heterodimers comprised of alpha and trong>betatrong> subunits, that are noncovalently associated transmembrane glycoprotetrong>introng> trong>receptortrong>s. Different combtrong>introng>ations of alpha and trong>betatrong> polypeptides form complexes that vary trong>introng> their ligand-btrong>introng>dtrong>introng>g specificities. trong>Introng>tegrtrong>introng>s mediate cell-matrix or cell-cell adhesion, and transduced signals that regulate gene expression and cell growth. This gene encodes the trong>introng>tegrtrong>introng> trong>betatrong> 4 subunit, a trong>receptortrong> for the lamtrong>introng>trong>introng>s. This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role trong>introng> the biology of trong>introng>vasive carctrong>introng>oma. Mutations trong>introng> this gene are associated with epidermolysis bullosa with pyloric atresia. Multiple alternatively spliced transcript variants encodtrong>introng>g disttrong>introng>ct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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trong>introng>tegrtrong>introng>, trong>betatrong> 7
This gene encodes a protetrong>introng> that is a member of the trong>introng>tegrtrong>introng> superfamily. Members of this family are adhesion trong>receptortrong>s that function trong>introng> signaltrong>introng>g from the extracellular matrix to the cell. trong>Introng>tegrtrong>introng>s are heterodimeric trong>introng>tegral membrane protetrong>introng>s composed of an alpha trong>chatrong>introng>trong> and a trong>betatrong> trong>chatrong>introng>trong>. The encoded protetrong>introng> forms dimers with an alpha4 trong>chatrong>introng>trong> or an alphaE trong>chatrong>introng>trong> and plays a role trong>introng> leukocyte adhesion. Dimerization with alpha4 forms a homtrong>introng>g trong>receptortrong> for migration of lymphocytes to the trong>introng>testtrong>introng>al mucosa and Peyer's patches. Dimerization with alphaE permits btrong>introng>dtrong>introng>g to the ligand epithelial cadhertrong>introng>, a calcium-dependent adhesion molecule. Alternate splictrong>introng>g results trong>introng> multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013]
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trong>introng>tegrtrong>introng>, trong>betatrong> 6
This gene encodes a protetrong>introng> that is a member of the trong>introng>tegrtrong>introng> superfamily. Members of this family are adhesion trong>receptortrong>s that function trong>introng> signaltrong>introng>g from the extracellular matrix to the cell. trong>Introng>tegrtrong>introng>s are heterodimeric trong>introng>tegral membrane protetrong>introng>s composed of an alpha trong>chatrong>introng>trong> and a trong>betatrong> trong>chatrong>introng>trong>. The encoded protetrong>introng> forms a dimer with an alpha v trong>chatrong>introng>trong> and this heterodimer can btrong>introng>d to ligands like fibronecttrong>introng> and transformtrong>introng>g growth factor trong>betatrong> 1. Alternate splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Sep 2013]
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trong>introng>tegrtrong>introng>, trong>betatrong> 8
This gene is a member of the trong>introng>tegrtrong>introng> trong>betatrong> trong>chatrong>introng>trong> family and encodes a strong>introng>gle-pass type I membrane protetrong>introng> with a VWFA domatrong>introng> and four cystetrong>introng>e-rich repeats. This protetrong>introng> noncovalently btrong>introng>ds to an alpha subunit to form a heterodimeric trong>introng>tegrtrong>introng> complex. trong>Introng> general, trong>introng>tegrtrong>introng> complexes mediate cell-cell and cell-extracellular matrix trong>introng>teractions and this complex plays a role trong>introng> human airway epithelial proliferation. Alternatively spliced variants which encode different protetrong>introng> isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
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citrate lyase trong>betatrong> like
Enables (S)-citramalyl-CoA lyase activity; magnesium ion btrong>introng>dtrong>introng>g activity; and malate synthase activity. trong>Introng>volved trong>introng> protetrong>introng> homotrimerization and regulation of cobalamtrong>introng> metabolic process. Located trong>introng> mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]
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trong>Betatrong>-amtrong>introng>o acids, renal transport of
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growth arrest and DNA-damage-trong>introng>ducible, trong>betatrong>
This gene is a member of a group of genes whose transcript levels are trong>introng>creased followtrong>introng>g stressful growth arrest conditions and treatment with DNA-damagtrong>introng>g agents. The genes trong>introng> this group respond to environmental stresses by mediattrong>introng>g activation of the p38/JNK pathway. This activation is mediated via their protetrong>introng>s btrong>introng>dtrong>introng>g and activattrong>introng>g MTK1/MEKK4 ktrong>introng>ase, which is an upstream activator of both p38 and JNK MAPKs. The function of these genes or their protetrong>introng> products is trong>introng>volved trong>introng> the regulation of growth and apoptosis. These genes are regulated by different mechanisms, but they are often coordtrong>introng>ately expressed and can function cooperatively trong>introng> trong>introng>hibittrong>introng>g cell growth. [provided by RefSeq, Jul 2008]
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trong>introng>terferon, trong>betatrong> 1, fibroblast
This gene encodes a cytoktrong>introng>e that belongs to the trong>introng>terferon family of signaltrong>introng>g protetrong>introng>s, which are released as part of the trong>introng>nate immune response to pathogens. The protetrong>introng> encoded by this gene belongs to the type I class of trong>introng>terferons, which are important for defense agatrong>introng>st viral trong>introng>fections. trong>Introng> addition, type I trong>introng>terferons are trong>introng>volved trong>introng> cell differentiation and anti-tumor defenses. Followtrong>introng>g secretion trong>introng> response to a pathogen, type I trong>introng>terferons btrong>introng>d a homologous trong>receptortrong> complex and trong>introng>duce transcription of genes such as those encodtrong>introng>g trong>introng>flammatory cytoktrong>introng>es and chemoktrong>introng>es. Overactivation of type I trong>introng>terferon secretion is ltrong>introng>ked to autoimmune diseases. Mice deficient for this gene display several phenotypes trong>introng>cludtrong>introng>g defects trong>introng> B cell maturation and trong>introng>creased susceptibility to viral trong>introng>fection. [provided by RefSeq, Sep 2015]
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major histocompatibility complex, class II, DO trong>betatrong>
HLA-DOB belongs to the HLA class II trong>betatrong> trong>chatrong>introng>trong> paralogues. This class II molecule is a heterodimer consisttrong>introng>g of an alpha (DOA) and a trong>betatrong> trong>chatrong>introng>trong> (DOB), both anchored trong>introng> the membrane. It is located trong>introng> trong>introng>tracellular vesicles. DO suppresses peptide loadtrong>introng>g of MHC class II molecules by trong>introng>hibittrong>introng>g HLA-DM. Class II molecules are expressed trong>introng> antigen presenttrong>introng>g cells (APC: B lymphocytes, dendritic cells, macrophages). The trong>betatrong> trong>chatrong>introng>trong> is approximately 26-28 kDa and its gene contatrong>introng>s 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domatrong>introng>s, exon 4 encodes the transmembrane domatrong>introng> and exon 5 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008]
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complement component 8, trong>betatrong> polypeptide
This gene encodes one of the three subunits of the complement component 8 (C8) protetrong>introng>. C8 is composed of equimolar amounts of alpha, trong>betatrong> and gamma subunits, which are encoded by three separate genes. C8 is one component of the membrane attack complex, which mediates cell lysis, and it trong>introng>itiates membrane penetration of the complex. This protetrong>introng> mediates the trong>introng>teraction of C8 with the C5b-7 membrane attack complex precursor. trong>Introng> humans deficiency of this protetrong>introng> is associated with trong>introng>creased risk of mentrong>introng>gococcal trong>introng>fections. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jun 2013]
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pyruvate dehydrogenase (lipoamide) trong>betatrong>
The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and carbon dioxide, and provides the primary ltrong>introng>k between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two trong>betatrong> subunits. This gene encodes the E1 trong>betatrong> subunit. Mutations trong>introng> this gene are associated with pyruvate dehydrogenase E1-trong>betatrong> deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2012]
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follicle stimulattrong>introng>g hormone, trong>betatrong> polypeptide
The pituitary glycoprotetrong>introng> hormone family trong>introng>cludes follicle-stimulattrong>introng>g hormone, lutetrong>introng>iztrong>introng>g hormone, chorionic gonadotroptrong>introng>, and thyroid-stimulattrong>introng>g hormone. All of these glycoprotetrong>introng>s consist of an identical alpha subunit and a hormone-specific trong>betatrong> subunit. This gene encodes the trong>betatrong> subunit of follicle-stimulattrong>introng>g hormone. trong>Introng> conjunction with lutetrong>introng>iztrong>introng>g hormone, follicle-stimulattrong>introng>g hormone trong>introng>duces egg and sperm production. Alternative splictrong>introng>g results trong>introng> two transcript variants encodtrong>introng>g the same protetrong>introng>. [provided by RefSeq, Jul 2008]
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glia maturation factor, trong>betatrong> pseudogene 1
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succtrong>introng>ate-CoA ligase, ADP-formtrong>introng>g, trong>betatrong> subunit pseudogene
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protetrong>introng> phosphatase 2, regulatory subunit B'', trong>betatrong> pseudogene
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succtrong>introng>ate-CoA ligase, ADP-formtrong>introng>g, trong>betatrong> subunit pseudogene
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catentrong>introng> (cadhertrong>introng>-associated protetrong>introng>), trong>betatrong> 1, 88kDa pseudogene
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nuclear transcription factor Y, trong>betatrong> pseudogene
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transformtrong>introng>g growth factor trong>betatrong> 1 trong>introng>duced transcript 1
This gene encodes a coactivator of the androgen trong>receptortrong>, a transcription factor which is activated by androgen and has a key role trong>introng> male sexual differentiation. The encoded protetrong>introng> is thought to regulate androgen trong>receptortrong> activity and may have a role to play trong>introng> the treatment of prostate cancer. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
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synucletrong>introng>, trong>betatrong>
This gene encodes a member of a small family of protetrong>introng>s that trong>introng>hibit phospholipase D2 and may function trong>introng> neuronal plasticity. The encoded protetrong>introng> is abundant trong>introng> lesions of patients with Alzheimer disease. A mutation trong>introng> this gene was found trong>introng> trong>introng>dividuals with dementia with Lewy bodies. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Dec 2015]
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defenstrong>introng>, trong>betatrong> 109, pseudogene 1B
Predicted to enable CCR6 chemoktrong>introng>e trong>receptortrong> btrong>introng>dtrong>introng>g activity and chemoattractant activity. Predicted to be trong>introng>volved trong>introng> cell chemotaxis and defense response to bacterium. Predicted to be located trong>introng> extracellular region. Predicted to be active trong>introng> extracellular space. [provided by Alliance of Genome Resources, Mar 2025]
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choltrong>introng>e ktrong>introng>ase trong>betatrong>
Choltrong>introng>e ktrong>introng>ase (CK) and ethanolamtrong>introng>e ktrong>introng>ase (EK) catalyze the phosphorylation of choltrong>introng>e/ethanolamtrong>introng>e to phosphocholtrong>introng>e/phosphoethanolamtrong>introng>e. This is the first enzyme trong>introng> the biosynthesis of phosphatidylcholtrong>introng>e/phosphatidylethanolamtrong>introng>e trong>introng> all animal cells. The highly purified CKs from mammalian sources and their recombtrong>introng>ant gene products have been shown to have EK activity also, trong>introng>dicattrong>introng>g that both activities reside on the same protetrong>introng>. The choltrong>introng>e ktrong>introng>ase-like protetrong>introng> encoded by CHKL belongs to the choltrong>introng>e/ethanolamtrong>introng>e ktrong>introng>ase family; however, its exact function is not known. Read-through transcripts are expressed from this locus that trong>introng>clude exons from the downstream CPT1B locus. [provided by RefSeq, Jun 2009]
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cyclic nucleotide gated channel trong>betatrong> 3
This gene encodes the trong>betatrong> subunit of a cyclic nucleotide-gated ion channel. The encoded trong>betatrong> subunit appears to play a role trong>introng> modulation of channel function trong>introng> cone phototrong>receptortrong>s. This heterotetrameric channel is necessary for sensory transduction, and mutations trong>introng> this gene have been associated with achromatopsia 3, progressive cone dystrophy, and juvenile macular degeneration, also known as Stargardt Disease. [provided by RefSeq, Feb 2010]
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ST6 (alpha-N-acetyl-neuramtrong>introng>yl-2,3-trong>betatrong>-galactosyl-1,3)-N-acetylgalactosamtrong>introng>ide alpha-2,6-sialyltransferase 4 pseudogene 1
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adaptor-related protetrong>introng> complex 2, trong>betatrong> 1 subunit
The protetrong>introng> encoded by this gene is one of two large trong>chatrong>introng>trong> components of the assembly protetrong>introng> complex 2, which serves to ltrong>introng>k clathrtrong>introng> to trong>receptortrong>s trong>introng> coated vesicles. The encoded protetrong>introng> is found on the cytoplasmic face of coated vesicles trong>introng> the plasma membrane. Two transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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trong>betatrong>-lactoglobultrong>introng>-like
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trong>introng>terleuktrong>introng> 1, trong>betatrong>
The protetrong>introng> encoded by this gene is a member of the trong>introng>terleuktrong>introng> 1 cytoktrong>introng>e family. This cytoktrong>introng>e is produced by activated macrophages as a proprotetrong>introng>, which is proteolytically processed to its active form by caspase 1 (CASP1/ICE). This cytoktrong>introng>e is an important mediator of the trong>introng>flammatory response, and is trong>introng>volved trong>introng> a variety of cellular activities, trong>introng>cludtrong>introng>g cell proliferation, differentiation, and apoptosis. The trong>introng>duction of cyclooxygenase-2 (PTGS2/COX2) by this cytoktrong>introng>e trong>introng> the central nervous system (CNS) is found to contribute to trong>introng>flammatory patrong>introng> hypersensitivity. Similarly, IL-1B has been implicated trong>introng> human osteoarthritis pathogenesis. Patients with severe Coronavirus Disease 2019 (COVID-19) present elevated levels of pro-trong>introng>flammatory cytoktrong>introng>es such as IL-1B trong>introng> bronchial alveolar lavage fluid samples. The lung damage trong>introng>duced by the Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is to a large extent, a result of the trong>introng>flammatory response promoted by cytoktrong>introng>es such as IL-1B. This gene and eight other trong>introng>terleuktrong>introng> 1 family genes form a cytoktrong>introng>e gene cluster on chromosome 2. [provided by RefSeq, Jul 2020]
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protetrong>introng> ktrong>introng>ase (cAMP-dependent, catalytic) trong>introng>hibitor trong>betatrong>
This gene encodes a member of the cAMP-dependent protetrong>introng> ktrong>introng>ase trong>introng>hibitor family. The encoded protetrong>introng> may play a role trong>introng> the protetrong>introng> ktrong>introng>ase A (PKA) pathway by trong>introng>teracttrong>introng>g with the catalytic subunit of PKA, and overexpression of this gene may play a role trong>introng> prostate cancer. Alternatively spliced transcript variants encodtrong>introng>g multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
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trong>betatrong>-carotene oxygenase 1
Vitamtrong>introng> A metabolism is important for vital processes such as vision, embryonic development, cell differentiation, and membrane and sktrong>introng> protection. The protetrong>introng> encoded by this gene is a key enzyme trong>introng> trong>betatrong>-carotene metabolism to vitamtrong>introng> A. It catalyzes the oxidative cleavage of trong>betatrong>,trong>betatrong>-carotene trong>introng>to two rettrong>introng>al molecules. [provided by RefSeq, Jul 2008]
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ATPase, Na+/K+ transporttrong>introng>g, trong>betatrong> 1 polypeptide pseudogene 1
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tectontrong>introng> trong>betatrong>-propeller repeat contatrong>introng>trong>introng>g 1
This gene encodes a tethertrong>introng>g factor trong>introng>volved trong>introng> autophagy. The encoded protetrong>introng> is found at autolysosomes, and is trong>introng>volved trong>introng> targettrong>introng>g protetrong>introng> aggregates, damaged mitochondria, and bacterial pathogens for autophagy [provided by RefSeq, Nov 2012]
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tectontrong>introng> trong>betatrong>-propeller repeat contatrong>introng>trong>introng>g 2
The protetrong>introng> encoded by this gene is a member of the tectontrong>introng> trong>betatrong>-propeller repeat-contatrong>introng>trong>introng>g (TECPR) family, and contatrong>introng>s both TECPR and tryptophan-aspartic acid repeat (WD repeat) domatrong>introng>s. This gene has been implicated trong>introng> autophagy, as reduced expression levels of this gene have been associated with impaired autophagy. Recessive mutations trong>introng> this gene have been associated with a hereditary form of spastic paraparesis (HSP). HSP is characterized by progressive spasticity and paralysis of the legs. There is also some evidence ltrong>introng>ktrong>introng>g mutations trong>introng> this gene with birdshot choriorettrong>introng>opathy (BSCR), which results trong>introng> trong>introng>flammation of the choroid and rettrong>introng>a. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g different isoforms. [provided by RefSeq, Aug 2015]
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amyloid trong>betatrong> (A4) precursor protetrong>introng>-btrong>introng>dtrong>introng>g, family B, member 1 trong>introng>teracttrong>introng>g protetrong>introng>
Predicted to be trong>introng>volved trong>introng> signal transduction. Predicted to act upstream of or withtrong>introng> T cell activation via T cell trong>receptortrong> contact with antigen bound to MHC molecule on antigen presenttrong>introng>g cell and positive regulation of cell adhesion. Located trong>introng> cytosol and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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ST6 trong>betatrong>-galactosamide alpha-2,6-sialyltranferase 2
This locus encodes a sialyltransferase. The encoded type II transmembrane protetrong>introng> catalyzes the transfer of sialic acid from CMP to an oligosaccharide substrate. Polymorphisms at this locus may be associated with variations trong>introng> risperidone response trong>introng> schizophrenic patients. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]
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ATP synthase, H+ transporttrong>introng>g, mitochondrial F1 complex, trong>betatrong> polypeptide pseudogene 1
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chorionic gonadotroptrong>introng>, trong>betatrong> polypeptide 8
This gene is a member of the glycoprotetrong>introng> hormone trong>betatrong> trong>chatrong>introng>trong> family and encodes the trong>betatrong> 8 subunit of chorionic gonadotroptrong>introng> (CG). Glycoprotetrong>introng> hormones are heterodimers consisttrong>introng>g of a common alpha subunit and an unique trong>betatrong> subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the matrong>introng>tenance of pregnancy. The trong>betatrong> subunit of CG is encoded by 6 genes which are arranged trong>introng> tandem and trong>introng>verted pairs on chromosome 19q13.3 and contiguous with the lutetrong>introng>iztrong>introng>g hormone trong>betatrong> subunit gene. [provided by RefSeq, Jul 2008]
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chorionic gonadotroptrong>introng>, trong>betatrong> polypeptide 5
This gene is a member of the glycoprotetrong>introng> hormone trong>betatrong> trong>chatrong>introng>trong> family and encodes the trong>betatrong> 5 subunit of chorionic gonadotroptrong>introng> (CG). Glycoprotetrong>introng> hormones are heterodimers consisttrong>introng>g of a common alpha subunit and an unique trong>betatrong> subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the matrong>introng>tenance of pregnancy. The trong>betatrong> subunit of CG is encoded by 6 genes which are arranged trong>introng> tandem and trong>introng>verted pairs on chromosome 19q13.3 and contiguous with the lutetrong>introng>iztrong>introng>g hormone trong>betatrong> subunit gene. [provided by RefSeq, Jul 2008]
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chorionic gonadotroptrong>introng>, trong>betatrong> polypeptide 7
This gene is a member of the glycoprotetrong>introng> hormone trong>betatrong> trong>chatrong>introng>trong> family and encodes the trong>betatrong> 7 subunit of chorionic gonadotroptrong>introng> (CG). Glycoprotetrong>introng> hormones are heterodimers consisttrong>introng>g of a common alpha subunit and an unique trong>betatrong> subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the matrong>introng>tenance of pregnancy. The trong>betatrong> subunit of CG is encoded by 6 genes which are arranged trong>introng> tandem and trong>introng>verted pairs on chromosome 19q13.3 and contiguous with the lutetrong>introng>iztrong>introng>g hormone trong>betatrong> subunit gene. [provided by RefSeq, Jul 2008]
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chorionic gonadotroptrong>introng>, trong>betatrong> polypeptide 1
The trong>betatrong> subunit of chorionic gonadotroptrong>introng> (CGB) is encoded by six highly homologous and structurally similar genes that are arranged trong>introng> tandem and trong>introng>verted pairs on chromosome 19q13.3, and contiguous with the lutetrong>introng>iztrong>introng>g hormone trong>betatrong> (LHB) subunit gene. The CGB genes are primarily disttrong>introng>guished by differences trong>introng> the 5' untranscribed region. This gene was origtrong>introng>ally thought to be one of the two pseudogenes (CGB1 and CGB2) of CGB subunit, however, detection of CGB1 and CGB2 transcripts trong>introng> vivo, and their presence on the polysomes, suggested that these transcripts are translated. To date, a protetrong>introng> product correspondtrong>introng>g to CGB1 has not been isolated. The deduced sequence of the hypothetical protetrong>introng> of 132 aa does not share any similarity with that of functional CGB subunits (PMID:8954017). However, a 155 aa protetrong>introng>, translated from a different frame, is about the same size, and shares 98% identity with other CGB subunits. [provided by RefSeq, Jul 2008]
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chorionic gonadotroptrong>introng>, trong>betatrong> polypeptide 2
The trong>betatrong> subunit of chorionic gonadotroptrong>introng> (CGB) is encoded by six highly homologous and structurally similar genes that are arranged trong>introng> tandem and trong>introng>verted pairs on chromosome 19q13.3, and contiguous with the lutetrong>introng>iztrong>introng>g hormone trong>betatrong> (LHB) subunit gene. The CGB genes are primarily disttrong>introng>guished by differences trong>introng> the 5' untranscribed region. This gene was origtrong>introng>ally thought to be one of the two pseudogenes (CGB1 and CGB2) of CGB subunit, however, detection of CGB1 and CGB2 transcripts trong>introng> vivo, and their presence on the polysomes, suggested that these transcripts are translated. To date, a protetrong>introng> product correspondtrong>introng>g to CGB2 has not been isolated. The deduced sequence of the hypothetical protetrong>introng> of 132 aa does not share any similarity with that of functional CGB subunits (PMID:8954017). However, a 163 aa protetrong>introng>, translated from a different frame, is about the same size, and shares 98% identity with other CGB subunits. [provided by RefSeq, Jul 2008]
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NADH dehydrogenase (ubiqutrong>introng>one) 1 trong>betatrong> subcomplex, 10, 22kDa pseudogene
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thymostrong>introng> trong>betatrong> 4, X-ltrong>introng>ked
This gene encodes an acttrong>introng> sequestertrong>introng>g protetrong>introng> which plays a role trong>introng> regulation of acttrong>introng> polymerization. The protetrong>introng> is also trong>introng>volved trong>introng> cell proliferation, migration, and differentiation. This gene escapes X trong>introng>activation and has a homolog on chromosome Y. [provided by RefSeq, Jul 2008]
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thymostrong>introng> trong>betatrong> 4, Y-ltrong>introng>ked
This gene lies withtrong>introng> the male specific region of chromosome Y. Its homolog on chromosome X escapes X trong>introng>activation and encodes an acttrong>introng> sequestertrong>introng>g protetrong>introng>. [provided by RefSeq, Jul 2008]
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amyloid trong>betatrong> (A4) precursor protetrong>introng>-btrong>introng>dtrong>introng>g, family B, member 1 (Fe65)
The protetrong>introng> encoded by this gene is a member of the Fe65 protetrong>introng> family. It is an adaptor protetrong>introng> localized trong>introng> the nucleus. It trong>introng>teracts with the Alzheimer's disease amyloid precursor protetrong>introng> (APP), transcription factor CP2/LSF/LBP1 and the low-density lipoprotetrong>introng> trong>receptortrong>-related protetrong>introng>. APP functions as a cytosolic anchortrong>introng>g site that can prevent the gene product's nuclear translocation. This encoded protetrong>introng> could play an important role trong>introng> the pathogenesis of Alzheimer's disease. It is thought to regulate transcription. Also it is observed to block cell cycle progression by downregulattrong>introng>g thymidylate synthase expression. Multiple alternatively spliced transcript variants encodtrong>introng>g different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]
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amyloid trong>betatrong> (A4) precursor protetrong>introng>-btrong>introng>dtrong>introng>g, family B, member 2
The protetrong>introng> encoded by this gene trong>introng>teracts with the cytoplasmic domatrong>introng>s of amyloid trong>betatrong> (A4) precursor protetrong>introng> and amyloid trong>betatrong> (A4) precursor-like protetrong>introng> 2. This protetrong>introng> contatrong>introng>s two phosphotyrostrong>introng>e btrong>introng>dtrong>introng>g (PTB) domatrong>introng>s, which are thought to function trong>introng> signal transduction. Polymorphisms trong>introng> this gene have been associated with Alzheimer's disease. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Oct 2009]
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amyloid trong>betatrong> (A4) precursor protetrong>introng>-btrong>introng>dtrong>introng>g, family B, member 3
The protetrong>introng> encoded by this gene is a member of the APBB protetrong>introng> family. It is found trong>introng> the cytoplasm and btrong>introng>ds to the trong>introng>tracellular domatrong>introng> of the Alzheimer's disease trong>betatrong>-amyloid precursor protetrong>introng> (APP) as well as to other APP-like protetrong>introng>s. It is thought that the protetrong>introng> encoded by this gene may modulate the trong>introng>ternalization of APP. Multiple transcript variants encodtrong>introng>g several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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glucuronidase, trong>betatrong> pseudogene 11
This transcribed pseudogene is similar to two functional genes. The 5' portion of the pseudogene is related to glucuronidase, trong>betatrong>, and the 3' portion is related to immunoglobultrong>introng> lambda-like polypeptide 1. [provided by RefSeq, Jul 2011]
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hydroxysteroid (17-trong>betatrong>) dehydrogenase 8
trong>Introng> mice, the Ke6 protetrong>introng> is a 17-trong>betatrong>-hydroxysteroid dehydrogenase that can regulate the concentration of biologically active estrogens and androgens. It is preferentially an oxidative enzyme and trong>introng>activates estradiol, testosterone, and dihydrotestosterone. However, the enzyme has some reductive activity and can synthesize estradiol from estrone. The protetrong>introng> encoded by this gene is similar to Ke6 and is a member of the short-trong>chatrong>introng>trong> dehydrogenase superfamily. An alternatively spliced transcript of this gene has been detected, but the full-length nature of this variant has not been determtrong>introng>ed. [provided by RefSeq, Jul 2008]
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hydroxysteroid (17-trong>betatrong>) dehydrogenase 1
This gene encodes a member of the 17trong>betatrong>-hydroxysteroid dehydrogenase family of short-trong>chatrong>introng>trong> dehydrogenases/reductases. It has a dual function trong>introng> estrogen activation and androgen trong>introng>activation and plays a major role trong>introng> establishtrong>introng>g the estrogen E2 concentration gradient between serum and peripheral tissues. The encoded protetrong>introng> catalyzes the last step trong>introng> estrogen activation, ustrong>introng>g NADPH to convert estrogens E1 and E2 and androgens like 4-androstenedione, to testosterone. It has an N-termtrong>introng>al short-trong>chatrong>introng>trong> dehydrogenase domatrong>introng> with a cofactor btrong>introng>dtrong>introng>g site, and a narrow, hydrophobic C-termtrong>introng>al domatrong>introng> with a steroid substrate btrong>introng>dtrong>introng>g site. This gene is expressed primarily trong>introng> the placenta and ovarian granulosa cells, and to a lesser extent, trong>introng> the endometrium, adipose tissue, and prostate. Polymorphisms trong>introng> this gene have been ltrong>introng>ked to breast and prostate cancer. A pseudogene of this gene has been identified. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Sep 2016]
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hydroxysteroid (17-trong>betatrong>) dehydrogenase 2
Enables estradiol 17-trong>betatrong>-dehydrogenase [NAD(P)+] activity and testosterone dehydrogenase (NAD+) activity. trong>Introng>volved trong>introng> androgen metabolic process; estrogen biosynthetic process; and response to rettrong>introng>oic acid. Located trong>introng> endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Mar 2025]
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hydroxysteroid (17-trong>betatrong>) dehydrogenase 3
This isoform of 17 trong>betatrong>-hydroxysteroid dehydrogenase is expressed predomtrong>introng>antly trong>introng> the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result trong>introng> male pseudohermaphroditism with gynecomastia. [provided by RefSeq, Jul 2008]
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hydroxysteroid (17-trong>betatrong>) dehydrogenase 4
The protetrong>introng> encoded by this gene is a bifunctional enzyme that is trong>introng>volved trong>introng> the peroxisomal trong>betatrong>-oxidation pathway for fatty acids. It also acts as a catalyst for the formation of 3-ketoacyl-CoA trong>introng>termediates from both straight-trong>chatrong>introng>trong> and 2-methyl-branched-trong>chatrong>introng>trong> fatty acids. Defects trong>introng> this gene that affect the peroxisomal fatty acid trong>betatrong>-oxidation activity are a cause of D-bifunctional protetrong>introng> deficiency (DBPD). An apparent pseudogene of this gene is present on chromosome 8. Multiple alternatively spliced transcript variants encodtrong>introng>g disttrong>introng>ct isoforms have been found for this gene. [provided by RefSeq, May 2014]
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hydroxysteroid (17-trong>betatrong>) dehydrogenase 6
The protetrong>introng> encoded by this gene has both oxidoreductase and epimerase activities and is trong>introng>volved trong>introng> androgen catabolism. The oxidoreductase activity can convert 3 alpha-adiol to dihydrotestosterone, while the epimerase activity can convert androsterone to epi-androsterone. Both reactions use NAD+ as the preferred cofactor. This gene is a member of the rettrong>introng>ol dehydrogenase family. [provided by RefSeq, Aug 2013]
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hydroxysteroid (17-trong>betatrong>) dehydrogenase 7
HSD17B7 encodes an enzyme that functions both as a 17-trong>betatrong>-hydroxysteroid dehydrogenase (EC 1.1.1.62) trong>introng> the biosynthesis of sex steroids and as a 3-ketosteroid reductase (EC 1.1.1.270) trong>introng> the biosynthesis of cholesterol (Marijanovic et al., 2003 [PubMed 12829805]).[supplied by OMIM, May 2010]
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Sec61 trong>betatrong> subunit pseudogene
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glucuronidase, trong>betatrong> pseudogene
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tubultrong>introng>, trong>betatrong> 2B class IIb pseudogene
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defenstrong>introng>, trong>betatrong> 131 pseudogene
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tryptase trong>betatrong> 2 (gene/pseudogene)
Tryptases comprise a family of trypstrong>introng>-like sertrong>introng>e proteases, the peptidase family S1. Tryptases are enzymatically active only as hepartrong>introng>-stabilized tetramers, and they are resistant to all known endogenous protetrong>introng>ase trong>introng>hibitors. Several tryptase genes are clustered on chromosome 16p13.3. These genes are characterized by several disttrong>introng>ct features. They have a highly conserved 3' UTR and contatrong>introng> tandem repeat sequences at the 5' flank and 3' UTR which are thought to play a role trong>introng> regulation of the mRNA stability. These genes have an trong>introng>tron immediately upstream of the trong>introng>itiator Met codon, which separates the site of transcription trong>introng>itiation from protetrong>introng> codtrong>introng>g sequence. This feature is characteristic of tryptases but is unusual trong>introng> other genes. The alleles of this gene exhibit an unusual amount of sequence variation, such that the alleles were once thought to represent two separate genes, trong>betatrong> II and trong>betatrong> III. trong>Betatrong> tryptases appear to be the matrong>introng> isoenzymes expressed trong>introng> mast cells, whereas trong>introng> basophils, alpha-tryptases predomtrong>introng>ate. Tryptases have been implicated as mediators trong>introng> the pathogenesis of asthma and other allergic and trong>introng>flammatory disorders. [provided by RefSeq, Jul 2008]
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ST6 trong>betatrong>-galactosamide alpha-2,6-sialyltranferase 1
This gene encodes a member of glycosyltransferase family 29. The encoded protetrong>introng> is a type II membrane protetrong>introng> that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-contatrong>introng>trong>introng>g substrates. The protetrong>introng>, which is normally found trong>introng> the Golgi but can be proteolytically processed to a soluble form, is trong>introng>volved trong>introng> the generation of the cell-surface carbohydrate determtrong>introng>ants and differentiation antigens HB-6, CD75, and CD76. This gene has been trong>introng>correctly referred to as CD75. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jul 2017]
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ERO1-like trong>betatrong> (S. cerevisiae)
Enables protetrong>introng>-disulfide reductase activity and thiol oxidase activity. trong>Introng>volved trong>introng> protetrong>introng> foldtrong>introng>g trong>introng> endoplasmic reticulum. Predicted to be located trong>introng> endoplasmic reticulum. Predicted to be active trong>introng> endoplasmic reticulum lumen and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Mar 2025]
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defenstrong>introng>, trong>betatrong> 4B
Defenstrong>introng>s form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defenstrong>introng> family are highly similar trong>introng> protetrong>introng> sequence. This gene encodes defenstrong>introng>, trong>betatrong> 4, an antibiotic peptide which is locally regulated by trong>introng>flammation. [provided by RefSeq, Oct 2014]
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defenstrong>introng>, trong>betatrong> 4A
Defenstrong>introng>s form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defenstrong>introng> family are highly similar trong>introng> protetrong>introng> sequence. This gene encodes defenstrong>introng>, trong>betatrong> 4, an antibiotic peptide which is locally regulated by trong>introng>flammation. [provided by RefSeq, Jul 2008]
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calcium/calmodultrong>introng>-dependent protetrong>introng> ktrong>introng>ase II trong>betatrong>
The product of this gene belongs to the sertrong>introng>e/threontrong>introng>e protetrong>introng> ktrong>introng>ase family and to the Ca(2+)/calmodultrong>introng>-dependent protetrong>introng> ktrong>introng>ase subfamily. Calcium signaltrong>introng>g is crucial for several aspects of plasticity at glutamatergic synapses. trong>Introng> mammalian cells, the enzyme is composed of four different trong>chatrong>introng>trong>s: alpha, trong>betatrong>, gamma, and delta. The product of this gene is a trong>betatrong> trong>chatrong>introng>trong>. It is possible that disttrong>introng>ct isoforms of this trong>chatrong>introng>trong> have different cellular localizations and trong>introng>teract differently with calmodultrong>introng>. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, May 2014]
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alpha/trong>betatrong> hydrolase domatrong>introng>-contatrong>introng>trong>introng>g protetrong>introng> 17A-like
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acttrong>introng>, trong>betatrong>-like 2 pseudogene
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protetrong>introng> phosphatase 2, regulatory subunit B'', trong>betatrong> pseudogene
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lysosomal protetrong>introng> transmembrane 4 trong>betatrong>
Enables ceramide btrong>introng>dtrong>introng>g activity; enzyme btrong>introng>dtrong>introng>g activity; and phosphatidyltrong>introng>ositol bisphosphate btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g endosome transport via multivesicular body sorttrong>introng>g pathway; negative regulation of macromolecule metabolic process; and regulation of lysosomal membrane permeability. Located trong>introng> several cellular components, trong>introng>cludtrong>introng>g endosome; lysosomal membrane; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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crystalltrong>introng>, trong>betatrong> B2
Crystalltrong>introng>s are separated trong>introng>to two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major protetrong>introng>s of vertebrate eye lens and matrong>introng>tatrong>introng>s the transparency and refractive trong>introng>dex of the lens. Strong>introng>ce lens central fiber cells lose their nuclei durtrong>introng>g development, these crystalltrong>introng>s are made and then retatrong>introng>ed throughout life, maktrong>introng>g them extremely stable protetrong>introng>s. Mammalian lens crystalltrong>introng>s are divided trong>introng>to alpha, trong>betatrong>, and gamma families; trong>betatrong> and gamma crystalltrong>introng>s are also considered as a superfamily. Alpha and trong>betatrong> families are further divided trong>introng>to acidic and basic groups. Seven protetrong>introng> regions exist trong>introng> crystalltrong>introng>s: four homologous motifs, a connecttrong>introng>g peptide, and N- and C-termtrong>introng>al extensions. trong>Betatrong>-crystalltrong>introng>s, the most heterogeneous, differ by the presence of the C-termtrong>introng>al extension (present trong>introng> the basic group, none trong>introng> the acidic group). trong>Betatrong>-crystalltrong>introng>s form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other trong>betatrong>-crystalltrong>introng>s. This gene, a trong>betatrong> basic group member, is part of a gene cluster with trong>betatrong>-A4, trong>betatrong>-B1, and trong>betatrong>-B3. A trong>chatrong>introng>trong>-termtrong>introng>attrong>introng>g mutation was found to cause type 2 cerulean cataracts. [provided by RefSeq, Jul 2008]
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crystalltrong>introng>, trong>betatrong> B3
Crystalltrong>introng>s are separated trong>introng>to two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major protetrong>introng>s of vertebrate eye lens and matrong>introng>tatrong>introng>s the transparency and refractive trong>introng>dex of the lens. Strong>introng>ce lens central fiber cells lose their nuclei durtrong>introng>g development, these crystalltrong>introng>s are made and then retatrong>introng>ed throughout life, maktrong>introng>g them extremely stable protetrong>introng>s. Mammalian lens crystalltrong>introng>s are divided trong>introng>to alpha, trong>betatrong>, and gamma families; trong>betatrong> and gamma crystalltrong>introng>s are also considered as a superfamily. Alpha and trong>betatrong> families are further divided trong>introng>to acidic and basic groups. Seven protetrong>introng> regions exist trong>introng> crystalltrong>introng>s: four homologous motifs, a connecttrong>introng>g peptide, and N- and C-termtrong>introng>al extensions. trong>Betatrong>-crystalltrong>introng>s, the most heterogeneous, differ by the presence of the C-termtrong>introng>al extension (present trong>introng> the basic group, none trong>introng> the acidic group). trong>Betatrong>-crystalltrong>introng>s form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other trong>betatrong>-crystalltrong>introng>s. This gene, a trong>betatrong> basic group member, is part of a gene cluster with trong>betatrong>-A4, trong>betatrong>-B1, and trong>betatrong>-B2. Mutations trong>introng> this gene result trong>introng> cataract congenital nuclear autosomal recessive type 2. [provided by RefSeq, Feb 2013]
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crystalltrong>introng>, trong>betatrong> B1
Crystalltrong>introng>s are separated trong>introng>to two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major protetrong>introng>s of vertebrate eye lens and matrong>introng>tatrong>introng>s the transparency and refractive trong>introng>dex of the lens. Strong>introng>ce lens central fiber cells lose their nuclei durtrong>introng>g development, these crystalltrong>introng>s are made and then retatrong>introng>ed throughout life, maktrong>introng>g them extremely stable protetrong>introng>s. Mammalian lens crystalltrong>introng>s are divided trong>introng>to alpha, trong>betatrong>, and gamma families; trong>betatrong> and gamma crystalltrong>introng>s are also considered as a superfamily. Alpha and trong>betatrong> families are further divided trong>introng>to acidic and basic groups. Seven protetrong>introng> regions exist trong>introng> crystalltrong>introng>s: four homologous motifs, a connecttrong>introng>g peptide, and N- and C-termtrong>introng>al extensions. trong>Betatrong>-crystalltrong>introng>s, the most heterogeneous, differ by the presence of the C-termtrong>introng>al extension (present trong>introng> the basic group, none trong>introng> the acidic group). trong>Betatrong>-crystalltrong>introng>s form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other trong>betatrong>-crystalltrong>introng>s. This gene, a trong>betatrong> basic group member, undergoes extensive cleavage at its N-termtrong>introng>al extension durtrong>introng>g lens maturation. It is also a member of a gene cluster with trong>betatrong>-A4, trong>betatrong>-B2, and trong>betatrong>-B3. [provided by RefSeq, Jul 2008]
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defenstrong>introng>, trong>betatrong> 107B
Defenstrong>introng>s form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defenstrong>introng>s are short, processed peptide molecules that are classified by structure trong>introng>to three groups: alpha-defenstrong>introng>s, trong>betatrong>-defenstrong>introng>s and theta-defenstrong>introng>s. All trong>betatrong>-defenstrong>introng> genes are densely clustered trong>introng> four to five syntenic chromosomal regions. Chromosome 8p23 contatrong>introng>s at least two copies of the duplicated trong>betatrong>-defenstrong>introng> cluster. This duplication results trong>introng> two identical copies of defenstrong>introng>, trong>betatrong> 107, DEFB107A and DEFB107B, trong>introng> tail-to-tail orientation. This gene, DEFB107B, represents the more telomeric copy. [provided by RefSeq, Oct 2014]
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defenstrong>introng>, trong>betatrong> 107A
Defenstrong>introng>s form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defenstrong>introng>s are short, processed peptide molecules that are classified by structure trong>introng>to three groups: alpha-defenstrong>introng>s, trong>betatrong>-defenstrong>introng>s and theta-defenstrong>introng>s. All trong>betatrong>-defenstrong>introng> genes are densely clustered trong>introng> four to five syntenic chromosomal regions. Chromosome 8p23 contatrong>introng>s at least two copies of the duplicated trong>betatrong>-defenstrong>introng> cluster. This duplication results trong>introng> two identical copies of defenstrong>introng>, trong>betatrong> 107, DEFB107A and DEFB107B, trong>introng> tail-to-tail orientation. This gene, DEFB107A, represents the more centromeric copy. [provided by RefSeq, Oct 2014]
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acttrong>introng>, trong>betatrong> pseudogene
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thymostrong>introng> trong>betatrong> 10 pseudogene 1
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thymostrong>introng> trong>betatrong> 10 pseudogene 2
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resisttrong>introng> like trong>betatrong>
Predicted to enable hormone activity. trong>Introng>volved trong>introng> epithelial cell proliferation. Predicted to be located trong>introng> extracellular region. Predicted to be active trong>introng> extracellular space. [provided by Alliance of Genome Resources, Mar 2025]
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acttrong>introng>, trong>betatrong> pseudogene
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methiontrong>introng>e adenosyltransferase II, trong>betatrong>
The protetrong>introng> encoded by this gene belongs to the methiontrong>introng>e adenosyltransferase (MAT) family. MAT catalyzes the biosynthesis of S-adenosylmethiontrong>introng>e from methiontrong>introng>e and ATP. This protetrong>introng> is the regulatory trong>betatrong> subunit of MAT. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g different isoforms. [provided by RefSeq, Nov 2012]
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guanylate cyclase 1, soluble, trong>betatrong> 3
This gene encodes the trong>betatrong> subunit of the soluble guanylate cyclase (sGC), which catalyzes the conversion of GTP (guanostrong>introng>e triphosphate) to cGMP (cyclic guanostrong>introng>e monophosphate). The encoded protetrong>introng> contatrong>introng>s an HNOX domatrong>introng>, which serves as a trong>receptortrong> for ligands such as nitric oxide, oxygen and nitrovasodilator drugs. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, May 2014]
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guantrong>introng>e nucleotide btrong>introng>dtrong>introng>g protetrong>introng> (G protetrong>introng>), trong>betatrong> polypeptide 2-like 1
Enables several functions, trong>introng>cludtrong>introng>g cycltrong>introng> btrong>introng>dtrong>introng>g activity; enzyme btrong>introng>dtrong>introng>g activity; and protetrong>introng> domatrong>introng> specific btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g regulation of protetrong>introng> metabolic process; regulation of signal transduction; and regulation of vesicle-mediated transport. Located trong>introng> several cellular components, trong>introng>cludtrong>introng>g midbody; pertrong>introng>uclear region of cytoplasm; and phagocytic cup. Part of IRE1-RACK1-PP2A complex. [provided by Alliance of Genome Resources, Mar 2025]
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trong>betatrong>-glucuronidase-like protetrong>introng> SMA4
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hydroxysteroid (17-trong>betatrong>) dehydrogenase 12
This gene encodes a very important 17trong>betatrong>-hydroxysteroid dehydrogenase (17trong>betatrong>-HSD) that converts estrone trong>introng>to estradiol trong>introng> ovarian tissue. This enzyme is also trong>introng>volved trong>introng> fatty acid elongation. [provided by RefSeq, Oct 2011]
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hydroxysteroid (17-trong>betatrong>) dehydrogenase 13
Predicted to enable oxidoreductase activity, acttrong>introng>g on the CH-OH group of donors, NAD or NADP as acceptor and steroid dehydrogenase activity. Acts upstream of or withtrong>introng> positive regulation of lipid biosynthetic process. Located trong>introng> lipid droplet. [provided by Alliance of Genome Resources, Mar 2025]
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hydroxysteroid (17-trong>betatrong>) dehydrogenase 11
Short-trong>chatrong>introng>trong> alcohol dehydrogenases, such as HSD17B11, metabolize secondary alcohols and ketones (Brereton et al., 2001 [PubMed 11165019]).[supplied by OMIM, Jun 2009]
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hydroxysteroid (17-trong>betatrong>) dehydrogenase 14
17-trong>betatrong>-hydroxysteroid dehydrogenases, such as HSD17B14, are primarily trong>introng>volved trong>introng> metabolism of steroids at the C17 position and also of other substrates, such as fatty acids, prostaglandtrong>introng>s, and xenobiotics (Lukacik et al., 2007 [PubMed 17067289]).[supplied by OMIM, Jun 2009]
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Rab geranylgeranyltransferase, trong>betatrong> subunit
This gene encodes the trong>betatrong>-subunit of the enzyme Rab geranylgeranyl-transferase (RabGGTase), which belongs to the protetrong>introng> prenyltransferase family. RabGGTase catalyzes the post-translational addition of geranylgeranyl groups to C-termtrong>introng>al cystetrong>introng>e residues of Rab GTPases. Three small nucleolar RNA genes are present trong>introng> the trong>introng>tronic regions of this gene. Alternately spliced transcript variants have been observed for this gene. A pseudogene associated with this gene is located on chromosome 3. [provided by RefSeq, Jan 2013]
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tubultrong>introng>, trong>betatrong> class I
This gene encodes a trong>betatrong> tubultrong>introng> protetrong>introng>. This protetrong>introng> forms a dimer with alpha tubultrong>introng> and acts as a structural component of microtubules. Mutations trong>introng> this gene cause cortical dysplasia, complex, with other bratrong>introng> malformations 6. Alternative splictrong>introng>g results trong>introng> multiple splice variants. There are multiple pseudogenes for this gene on chromosomes 1, 6, 7, 8, 9, and 13. [provided by RefSeq, Jun 2014]
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CCAAT/enhancer btrong>introng>dtrong>introng>g protetrong>introng> (C/EBP), trong>betatrong>
This trong>introng>tronless gene encodes a transcription factor that contatrong>introng>s a basic leuctrong>introng>e zipper (bZIP) domatrong>introng>. The encoded protetrong>introng> functions as a homodimer but can also form heterodimers with CCAAT/enhancer-btrong>introng>dtrong>introng>g protetrong>introng>s alpha, delta, and gamma. Activity of this protetrong>introng> is important trong>introng> the regulation of genes trong>introng>volved trong>introng> immune and trong>introng>flammatory responses, among other processes. The use of alternative trong>introng>-frame AUG start codons results trong>introng> multiple protetrong>introng> isoforms, each with disttrong>introng>ct biological functions. [provided by RefSeq, Oct 2013]
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phosphorylase ktrong>introng>ase, trong>betatrong>
Phosphorylase ktrong>introng>ase is a polymer of 16 subunits, four each of alpha, trong>betatrong>, gamma and delta. The alpha subunit trong>introng>cludes the skeletal muscle and hepatic isoforms, encoded by two different genes. The trong>betatrong> subunit is the same trong>introng> both the muscle and hepatic isoforms, encoded by this gene, which is a member of the phosphorylase b ktrong>introng>ase regulatory subunit family. The gamma subunit also trong>introng>cludes the skeletal muscle and hepatic isoforms, encoded by two different genes. The delta subunit is a calmodultrong>introng> and can be encoded by three different genes. The gamma subunits contatrong>introng> the active site of the enzyme, whereas the alpha and trong>betatrong> subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations trong>introng> this gene cause glycogen storage disease type 9B, also known as phosphorylase ktrong>introng>ase deficiency of liver and muscle. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been identified trong>introng> this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively.[provided by RefSeq, Feb 2010]
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karyophertrong>introng> (importtrong>introng>) trong>betatrong> 1 pseudogene
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adaptor-related protetrong>introng> complex 4, trong>betatrong> 1 subunit
This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is trong>introng>volved trong>introng> targettrong>introng>g protetrong>introng>s from the trans-Golgi network to the endosomal-lysosomal system. Mutations trong>introng> this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
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tubultrong>introng>, trong>betatrong> 3 class III pseudogene 1
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NADH dehydrogenase (ubiqutrong>introng>one) 1 trong>betatrong> subcomplex, 9, 22kDa pseudogene
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trong>betatrong>-2-microglobultrong>introng>
This gene encodes a serum protetrong>introng> found trong>introng> association with the major histocompatibility complex (MHC) class I heavy trong>chatrong>introng>trong> on the surface of nearly all nucleated cells. The protetrong>introng> has a predomtrong>introng>antly trong>betatrong>-pleated sheet structure that can form amyloid fibrils trong>introng> some pathological conditions. The encoded antimicrobial protetrong>introng> displays antibacterial activity trong>introng> amniotic fluid. A mutation trong>introng> this gene has been shown to result trong>introng> hypercatabolic hypoprotetrong>introng>emia.[provided by RefSeq, Aug 2014]
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trong>betatrong>-defenstrong>introng> 131-like
Predicted to be trong>introng>volved trong>introng> defense response to bacterium and trong>introng>nate immune response. Predicted to be located trong>introng> extracellular region. Predicted to be active trong>introng> extracellular space. [provided by Alliance of Genome Resources, Mar 2025]
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phenylalanyl-tRNA synthetase, trong>betatrong> subunit pseudogene 1
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amyloid trong>betatrong> (A4) precursor protetrong>introng>
This gene encodes a cell surface trong>receptortrong> and transmembrane precursor protetrong>introng> that is cleaved by secretases to form a number of peptides. Some of these peptides are secreted and can btrong>introng>d to the acetyltransferase complex APBB1/TIP60 to promote transcriptional activation, while others form the protetrong>introng> basis of the amyloid plaques found trong>introng> the bratrong>introng>s of patients with Alzheimer disease. trong>Introng> addition, two of the peptides are antimicrobial peptides, havtrong>introng>g been shown to have bacteriocidal and antifungal activities. Mutations trong>introng> this gene have been implicated trong>introng> autosomal domtrong>introng>ant Alzheimer disease and cerebroarterial amyloidosis (cerebral amyloid angiopathy). Multiple transcript variants encodtrong>introng>g several different isoforms have been found for this gene. [provided by RefSeq, Aug 2014]
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protetrong>introng> geranylgeranyltransferase type I, trong>betatrong> subunit pseudogene 1
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acttrong>introng>, trong>betatrong> pseudogene 1
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acttrong>introng>, trong>betatrong> pseudogene 2
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protetrong>introng> ktrong>introng>ase, cAMP-dependent, catalytic, trong>betatrong>
The protetrong>introng> encoded by this gene is a member of the sertrong>introng>e/threontrong>introng>e protetrong>introng> ktrong>introng>ase family. The encoded protetrong>introng> is a catalytic subunit of cAMP (cyclic AMP)-dependent protetrong>introng> ktrong>introng>ase, which mediates signalltrong>introng>g though cAMP. cAMP signaltrong>introng>g is important to a number of processes, trong>introng>cludtrong>introng>g cell proliferaton and differentiation. Multiple alternatively spliced transcript variants encodtrong>introng>g disttrong>introng>ct isoforms have been observed. [provided by RefSeq, Jul 2014]
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acttrong>introng>, trong>betatrong> pseudogene
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catentrong>introng>, trong>betatrong> trong>introng>teracttrong>introng>g protetrong>introng> 1
The protetrong>introng> encoded by this gene btrong>introng>ds CTNNB1 and prevents trong>introng>teraction between CTNNB1 and TCF family members. The encoded protetrong>introng> is a negative regulator of the Wnt signaltrong>introng>g pathway. Two transcript variants encodtrong>introng>g the same protetrong>introng> have been found for this gene. [provided by RefSeq, Jul 2008]
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lysosomal protetrong>introng> transmembrane 4 trong>betatrong> pseudogene
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trong>introng>tegrtrong>introng>, trong>betatrong>-like 1 (with EGF-like repeat domatrong>introng>s)
This gene encodes a trong>betatrong> trong>introng>tegrtrong>introng>-related protetrong>introng> that is a member of the EGF-like protetrong>introng> family. The encoded protetrong>introng> contatrong>introng>s trong>introng>tegrtrong>introng>-like cystetrong>introng>e-rich repeats. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Nov 2012]
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tubultrong>introng>, trong>betatrong> 4B class IVb pseudogene 2
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eukaryotic translation trong>introng>itiation factor 2, subunit 2 trong>betatrong> pseudogene 1
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eukaryotic translation trong>introng>itiation factor 2, subunit 2 trong>betatrong> pseudogene 3
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eukaryotic translation trong>introng>itiation factor 2, subunit 2 trong>betatrong> pseudogene 2
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eukaryotic translation trong>introng>itiation factor 2, subunit 2 trong>betatrong> pseudogene 5
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eukaryotic translation trong>introng>itiation factor 2, subunit 2 trong>betatrong> pseudogene 4
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eukaryotic translation trong>introng>itiation factor 2, subunit 2 trong>betatrong> pseudogene 7
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eukaryotic translation trong>introng>itiation factor 2, subunit 2 trong>betatrong> pseudogene 6
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dishevelled-btrong>introng>dtrong>introng>g antagonist of trong>betatrong>-catentrong>introng> 1
The protetrong>introng> encoded by this gene belongs to the dapper family, characterized by the presence of PDZ-btrong>introng>dtrong>introng>g motif at the C-termtrong>introng>us. It trong>introng>teracts with, and positively regulates dishevelled-mediated signaltrong>introng>g pathways durtrong>introng>g development. Depletion of this mRNA from xenopus embryos resulted trong>introng> loss of notochord and head structures, and mice lacktrong>introng>g this gene died shortly after birth from severe posterior malformations. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]
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dishevelled-btrong>introng>dtrong>introng>g antagonist of trong>betatrong>-catentrong>introng> 3
Predicted to enable delta-catentrong>introng> btrong>introng>dtrong>introng>g activity; protetrong>introng> ktrong>introng>ase A btrong>introng>dtrong>introng>g activity; and protetrong>introng> ktrong>introng>ase C btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> negative regulation of canonical Wnt signaltrong>introng>g pathway and negative regulation of cell growth. Predicted to be active trong>introng> cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]
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dishevelled-btrong>introng>dtrong>introng>g antagonist of trong>betatrong>-catentrong>introng> 2
Predicted to enable several functions, trong>introng>cludtrong>introng>g trong>betatrong>-catentrong>introng> btrong>introng>dtrong>introng>g activity; delta-catentrong>introng> btrong>introng>dtrong>introng>g activity; and protetrong>introng> ktrong>introng>ase C btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g epithelial cell morphogenesis; trong>introng>ner medullary collecttrong>introng>g duct development; and negative regulation of nodal signaltrong>introng>g pathway. Predicted to act upstream of or withtrong>introng> hematopoietic progenitor cell differentiation. Predicted to be active trong>introng> cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]
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spectrtrong>introng>, trong>betatrong>, non-erythrocytic 5
Enables cytoskeletal protetrong>introng> btrong>introng>dtrong>introng>g activity; dynetrong>introng> trong>introng>termediate trong>chatrong>introng>trong> btrong>introng>dtrong>introng>g activity; and identical protetrong>introng> btrong>introng>dtrong>introng>g activity. Acts upstream of or withtrong>introng> Golgi organization and lysosomal transport. Located trong>introng> cytoplasm; phototrong>receptortrong> connecttrong>introng>g cilium; and phototrong>receptortrong> disc membrane. [provided by Alliance of Genome Resources, Mar 2025]
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spectrtrong>introng>, trong>betatrong>, non-erythrocytic 4
Spectrtrong>introng> is an acttrong>introng> crossltrong>introng>ktrong>introng>g and molecular scaffold protetrong>introng> that ltrong>introng>ks the plasma membrane to the acttrong>introng> cytoskeleton, and functions trong>introng> the determtrong>introng>ation of cell shape, arrangement of transmembrane protetrong>introng>s, and organization of organelles. It is composed of two antiparallel dimers of alpha- and trong>betatrong>- subunits. This gene is one member of a family of trong>betatrong>-spectrtrong>introng> genes. The encoded protetrong>introng> localizes to the nuclear matrix, PML nuclear bodies, and cytoplasmic vesicles. A highly similar gene trong>introng> the mouse is required for localization of specific membrane protetrong>introng>s trong>introng> polarized regions of neurons. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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spectrtrong>introng>, trong>betatrong>, non-erythrocytic 2
Spectrtrong>introng>s are prtrong>introng>ciple components of a cell's membrane-cytoskeleton and are composed of two alpha and two trong>betatrong> spectrtrong>introng> subunits. The protetrong>introng> encoded by this gene (SPTBN2), is called spectrtrong>introng> trong>betatrong> non-erythrocytic 2 or trong>betatrong>-III spectrtrong>introng>. It is related to, but disttrong>introng>ct from, the trong>betatrong>-II spectrtrong>introng> gene which is also known as spectrtrong>introng> trong>betatrong> non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaltrong>introng>g pathway by stabiliztrong>introng>g the glutamate transporter EAAT4 at the surface of the plasma membrane. Mutations trong>introng> this gene cause a form of sptrong>introng>ocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor trong>introng>coordtrong>introng>ation, dysarthria, and uncoordtrong>introng>ated eye movements. [provided by RefSeq, Dec 2009]
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spectrtrong>introng>, trong>betatrong>, non-erythrocytic 1
Spectrtrong>introng> is an acttrong>introng> crossltrong>introng>ktrong>introng>g and molecular scaffold protetrong>introng> that ltrong>introng>ks the plasma membrane to the acttrong>introng> cytoskeleton, and functions trong>introng> the determtrong>introng>ation of cell shape, arrangement of transmembrane protetrong>introng>s, and organization of organelles. It is composed of two antiparallel dimers of alpha- and trong>betatrong>- subunits. This gene is one member of a family of trong>betatrong>-spectrtrong>introng> genes. The encoded protetrong>introng> contatrong>introng>s an N-termtrong>introng>al acttrong>introng>-btrong>introng>dtrong>introng>g domatrong>introng>, and 17 spectrtrong>introng> repeats which are trong>introng>volved trong>introng> dimer formation. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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adaptor-related protetrong>introng> complex 2, trong>betatrong> 1 subunit pseudogene
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glycoprotetrong>introng> Ib (platelet), trong>betatrong> polypeptide
Platelet glycoprotetrong>introng> Ib (GPIb) is a heterodimeric transmembrane protetrong>introng> consisttrong>introng>g of a disulfide-ltrong>introng>ked 140 kD alpha trong>chatrong>introng>trong> and 22 kD trong>betatrong> trong>chatrong>introng>trong>. It is part of the GPIb-V-IX system that constitutes the trong>receptortrong> for von Willebrand factor (VWF), and mediates platelet adhesion trong>introng> the arterial circulation. GPIb alpha trong>chatrong>introng>trong> provides the VWF btrong>introng>dtrong>introng>g site, and GPIb trong>betatrong> contributes to surface expression of the trong>receptortrong> and participates trong>introng> transmembrane signaltrong>introng>g through phosphorylation of its trong>introng>tracellular domatrong>introng>. Mutations trong>introng> the GPIb trong>betatrong> subunit have been associated with Bernard-Soulier syndrome, velocardiofacial syndrome and giant platelet disorder. The 206 amtrong>introng>o acid precursor of GPIb trong>betatrong> is synthesized from a 1.0 kb mRNA expressed trong>introng> plateletes and megakaryocytes. A 411 amtrong>introng>o acid protetrong>introng> aristrong>introng>g from a longer, unspliced transcript trong>introng> endothelial cells has been described; however, the authenticity of this product has been questioned. Yet another less abundant GPIb trong>betatrong> mRNA species of 3.5 kb, expressed trong>introng> nonhematopoietic tissues such as endothelium, bratrong>introng> and heart, was shown to result from trong>introng>efficient usage of a non-consensus polyA signal trong>introng> the neighbortrong>introng>g upstream gene (SEPT5, septtrong>introng> 5). trong>Introng> the absence of polyadenylation from its own imperfect site, the SEPT5 gene produces read-through transcripts that use the consensus polyA signal of this gene. [provided by RefSeq, Dec 2010]
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galactosidase, trong>betatrong> 1
This gene encodes a member of the glycosyl hydrolase 35 family of protetrong>introng>s. Alternative splictrong>introng>g results trong>introng> multiple transcript variants, at least one of which encodes a preproprotetrong>introng> that is proteolytically processed to generate the mature lysosomal enzyme. This enzyme catalyzes the hydrolysis of a termtrong>introng>al trong>betatrong>-ltrong>introng>ked galactose residue from ganglioside substrates and other glycoconjugates. Mutations trong>introng> this gene may result trong>introng> GM1-gangliosidosis and Morquio B syndrome. [provided by RefSeq, Nov 2015]
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hydroxysteroid (17-trong>betatrong>) dehydrogenase 7 pseudogene 1
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hydroxysteroid (17-trong>betatrong>) dehydrogenase 7 pseudogene 2
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defenstrong>introng>, trong>betatrong> 108, pseudogene 3
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defenstrong>introng>, trong>betatrong> 108, pseudogene 2
Predicted to be trong>introng>volved trong>introng> defense response to bacterium and trong>introng>nate immune response. Predicted to be located trong>introng> extracellular region. [provided by Alliance of Genome Resources, Mar 2025]
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apolipoprotetrong>introng> H (trong>betatrong>-2-glycoprotetrong>introng> I)
Apolipoprotetrong>introng> H, also known as trong>betatrong>-2-glycoprotetrong>introng> I, is a component of circulattrong>introng>g plasma lipoprotetrong>introng>s. It has been implicated trong>introng> a variety of physiologic pathways trong>introng>cludtrong>introng>g lipoprotetrong>introng> metabolism, coagulation, hemostasis, and the production of antiphospholipid autoantibodies. APOH may be a required cofactor for anionic phospholipid btrong>introng>dtrong>introng>g by the antiphospholipid autoantibodies found trong>introng> sera of many patients with lupus and primary antiphospholipid syndrome (APS). The anti-trong>betatrong> (2) glycoprotetrong>introng> I antibodies from APS patients, mediate trong>introng>hibition of activated protetrong>introng> C which has anticoagulant properties. Because trong>betatrong>-2-GPI is the matrong>introng> autoantigen trong>introng> patients with APS, the disruption of this pathway by autoantibodies may be an important mechanism for thrombosis trong>introng> patients with APS.[provided by RefSeq, Dec 2019]
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amyloid trong>betatrong> (A4) precursor protetrong>introng>-btrong>introng>dtrong>introng>g, family A, member 1
The protetrong>introng> encoded by this gene is a member of the X11 protetrong>introng> family. It is a neuronal adapter protetrong>introng> that trong>introng>teracts with the Alzheimer's disease amyloid precursor protetrong>introng> (APP). It stabilizes APP and trong>introng>hibits production of proteolytic APP fragments trong>introng>cludtrong>introng>g the A trong>betatrong> peptide that is deposited trong>introng> the bratrong>introng>s of Alzheimer's disease patients. This gene product is believed to be trong>introng>volved trong>introng> signal transduction processes. It is also regarded as a putative vesicular trafficktrong>introng>g protetrong>introng> trong>introng> the bratrong>introng> that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq, Jul 2008]
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amyloid trong>betatrong> (A4) precursor protetrong>introng>-btrong>introng>dtrong>introng>g, family A, member 3
The protetrong>introng> encoded by this gene is a member of the X11 protetrong>introng> family. It is an adapter protetrong>introng> that trong>introng>teracts with the Alzheimer's disease amyloid precursor protetrong>introng>. This gene product is believed to be trong>introng>volved trong>introng> signal transduction processes. This gene is a candidate gene for Alzheimer's disease. [provided by RefSeq, Jul 2008]
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amyloid trong>betatrong> (A4) precursor protetrong>introng>-btrong>introng>dtrong>introng>g, family A, member 2
The protetrong>introng> encoded by this gene is a member of the X11 protetrong>introng> family. It is a neuronal adapter protetrong>introng> that trong>introng>teracts with the Alzheimer's disease amyloid precursor protetrong>introng> (APP). It stabilizes APP and trong>introng>hibits production of proteolytic APP fragments trong>introng>cludtrong>introng>g the A trong>betatrong> peptide that is deposited trong>introng> the bratrong>introng>s of Alzheimer's disease patients. This gene product is believed to be trong>introng>volved trong>introng> signal transduction processes. It is also regarded as a putative vesicular trafficktrong>introng>g protetrong>introng> trong>introng> the bratrong>introng> that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq, Jul 2017]
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DNA fragmentation factor, 40kDa, trong>betatrong> polypeptide (caspase-activated DNase)
Apoptosis is a cell death process that removes toxic and/or useless cells durtrong>introng>g mammalian development. The apoptotic process is accompanied by shrtrong>introng>kage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA trong>introng>to nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protetrong>introng> of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation durtrong>introng>g apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromattrong>introng> condensation durtrong>introng>g apoptosis. Alternatively spliced transcript variants encodtrong>introng>g disttrong>introng>ct isoforms have been found for this gene but the biological validity of some of these variants has not been determtrong>introng>ed. [provided by RefSeq, Sep 2013]
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nerve growth factor (trong>betatrong> polypeptide)
This gene is a member of the NGF-trong>betatrong> family and encodes a secreted protetrong>introng> which homodimerizes and is trong>introng>corporated trong>introng>to a larger complex. This protetrong>introng> has nerve growth stimulattrong>introng>g activity and the complex is trong>introng>volved trong>introng> the regulation of growth and the differentiation of sympathetic and certatrong>introng> sensory neurons. Mutations trong>introng> this gene have been associated with hereditary sensory and autonomic neuropathy, type 5 (HSAN5), and dysregulation of this gene's expression is associated with allergic rhtrong>introng>itis. [provided by RefSeq, Jul 2008]
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protocadhertrong>introng> trong>betatrong> 18 pseudogene
Predicted to enable calcium ion btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> cell adhesion. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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phosphatidyltrong>introng>ositol transfer protetrong>introng>, trong>betatrong>
This gene encodes a cytoplasmic protetrong>introng> that catalyzes the transfer of phosphatidyltrong>introng>ositol and phosphatidylcholtrong>introng>e between membranes. This transfer activity is required for COPI complex-mediated retrograde transport from the Golgi apparatus to the endoplasmic reticulum. Alternative splictrong>introng>g of this gene results trong>introng> multiple transcript variants. [provided by RefSeq, Sep 2013]
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hemoglobtrong>introng>, trong>betatrong> pseudogene 1
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acttrong>introng>, trong>betatrong> pseudogene
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glucosidase, trong>betatrong> (bile acid) 2
This gene encodes a microsomal trong>betatrong>-glucosidase that catalyzes the hydrolysis of bile acid 3-O-glucosides as endogenous compounds. Studies to determtrong>introng>e subcellular localization of this protetrong>introng> trong>introng> the liver trong>introng>dicated that the enzyme was matrong>introng>ly enriched trong>introng> the microsomal fraction where it appeared to be conftrong>introng>ed to the endoplasmic reticulum. This putative transmembrane protetrong>introng> is thought to play a role trong>introng> carbohydrate transport and metabolism. [provided by RefSeq, Jul 2008]
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glucosidase, trong>betatrong>, acid 3 (gene/pseudogene)
The protetrong>introng> encoded by this gene is a cytosolic enzyme that can hydrolyze several types of glycosides. The enzyme has its highest activity at neutral pH and is predomtrong>introng>antly expressed trong>introng> human liver, kidney, trong>introng>testtrong>introng>e, and spleen. This gene is a polymorphic pseudogene, with the most common allele betrong>introng>g the functional allele that encodes the full-length protetrong>introng>. Some trong>introng>dividuals contatrong>introng> a strong>introng>gle nucleotide polymorphism that results trong>introng> a premature stop codon trong>introng> the codtrong>introng>g region, and therefore this allele is pseudogenic due to the failure to produce a functional full-length protetrong>introng>. Alternative splictrong>introng>g of this gene results trong>introng> multiple transcript variants. [provided by RefSeq, Apr 2022]
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ATP synthase, H+ transporttrong>introng>g, mitochondrial F1 complex, trong>betatrong> polypeptide
This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utiliztrong>introng>g an electrochemical gradient of protons across the trong>introng>ner membrane durtrong>introng>g oxidative phosphorylation. ATP synthase is composed of two ltrong>introng>ked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanntrong>introng>g component, Fo, compristrong>introng>g the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, trong>betatrong>, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 trong>betatrong>, and a strong>introng>gle representative of the other 3. The proton channel consists of three matrong>introng> subunits (a, b, c). This gene encodes the trong>betatrong> subunit of the catalytic core. [provided by RefSeq, Jul 2008]
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double C2-like domatrong>introng>s, trong>betatrong>
There are at least two protetrong>introng> isoforms of the Double C2 protetrong>introng>, namely alpha (DOC2A) and trong>betatrong> (DOC2B), which contatrong>introng> two C2-like domatrong>introng>s. DOC2A and DOC2B are encoded by different genes; these genes are at times confused with the unrelated DAB2 gene which was trong>introng>itially named DOC-2. DOC2B is expressed ubiquitously and is suggested to be trong>introng>volved trong>introng> Ca(2+)-dependent trong>introng>tracellular vesicle trafficktrong>introng>g trong>introng> various types of cells. [provided by RefSeq, Jul 2008]
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cytochrome b-245, trong>betatrong> polypeptide
Cytochrome b (-245) is composed of cytochrome b alpha (CYBA) and trong>betatrong> (CYBB) trong>chatrong>introng>trong>. It has been proposed as a primary component of the microbicidal oxidase system of phagocytes. CYBB deficiency is one of five described biochemical defects associated with chronic granulomatous disease (CGD). trong>Introng> this disorder, there is decreased activity of phagocyte NADPH oxidase; neutrophils are able to phagocytize bacteria but cannot kill them trong>introng> the phagocytic vacuoles. The cause of the killtrong>introng>g defect is an trong>introng>ability to trong>introng>crease the cell's respiration and consequent failure to deliver activated oxygen trong>introng>to the phagocytic vacuole. [provided by RefSeq, Jul 2008]
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UDP-Gal:trong>betatrong>GlcNAc trong>betatrong> 1,4- galactosyltransferase, polypeptide 1
This gene is one of seven trong>betatrong>-1,4-galactosyltransferase (trong>betatrong>4GalT) genes. They encode type II membrane-bound glycoprotetrong>introng>s that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose trong>introng> a trong>betatrong>1,4 ltrong>introng>kage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each trong>betatrong>4GalT has a disttrong>introng>ct function trong>introng> the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane protetrong>introng>s, they have an N-termtrong>introng>al hydrophobic signal sequence that directs the protetrong>introng> to the Golgi apparatus and which then rematrong>introng>s uncleaved to function as a transmembrane anchor. By sequence similarity, the trong>betatrong>4GalTs form four groups: trong>betatrong>4GalT1 and trong>betatrong>4GalT2, trong>betatrong>4GalT3 and trong>betatrong>4GalT4, trong>betatrong>4GalT5 and trong>betatrong>4GalT6, and trong>betatrong>4GalT7. This gene is unique among the trong>betatrong>4GalT genes because it encodes an enzyme that participates both trong>introng> glycoconjugate and lactose biosynthesis. For the first activity, the enzyme adds galactose to N-acetylglucosamtrong>introng>e residues that are either monosaccharides or the nonreductrong>introng>g ends of glycoprotetrong>introng> carbohydrate trong>chatrong>introng>trong>s. The second activity is restricted to lactattrong>introng>g mammary tissues where the enzyme forms a heterodimer with alpha-lactalbumtrong>introng> to catalyze UDP-galactose + D-glucose <=> UDP + lactose. The two enzymatic forms result from alternate transcription trong>introng>itiation sites and post-translational processtrong>introng>g. Two transcripts, which differ only at the 5' end, with approximate lengths of 4.1 kb and 3.9 kb encode the same protetrong>introng>. The longer transcript encodes the type II membrane-bound, trans-Golgi resident protetrong>introng> trong>introng>volved trong>introng> glycoconjugate biosynthesis. The shorter transcript encodes a protetrong>introng> which is cleaved to form the soluble lactose synthase. [provided by RefSeq, Jul 2008]
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UDP-Gal:trong>betatrong>GlcNAc trong>betatrong> 1,4- galactosyltransferase, polypeptide 3
This gene is one of seven trong>betatrong>-1,4-galactosyltransferase (trong>betatrong>4GalT) genes. They encode type II membrane-bound glycoprotetrong>introng>s that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose trong>introng> a trong>betatrong>1,4 ltrong>introng>kage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each trong>betatrong>4GalT has a disttrong>introng>ct function trong>introng> the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane protetrong>introng>s, they have an N-termtrong>introng>al hydrophobic signal sequence that directs the protetrong>introng> to the Golgi apparatus and which then rematrong>introng>s uncleaved to function as a transmembrane anchor. By sequence similarity, the trong>betatrong>4GalTs form four groups: trong>betatrong>4GalT1 and trong>betatrong>4GalT2, trong>betatrong>4GalT3 and trong>betatrong>4GalT4, trong>betatrong>4GalT5 and trong>betatrong>4GalT6, and trong>betatrong>4GalT7. This gene encodes an enzyme that may be matrong>introng>ly trong>introng>volved trong>introng> the synthesis of the first N-acetyllactosamtrong>introng>e unit of poly-N-acetyllactosamtrong>introng>e trong>chatrong>introng>trong>s. Multiple alternatively spliced transcript variants encodtrong>introng>g the same protetrong>introng> have been found for this gene. [provided by RefSeq, Dec 2010]
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UDP-Gal:trong>betatrong>GlcNAc trong>betatrong> 1,4- galactosyltransferase, polypeptide 2
This gene is one of seven trong>betatrong>-1,4-galactosyltransferase (trong>betatrong>4GalT) genes. They encode type II membrane-bound glycoprotetrong>introng>s that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose trong>introng> a trong>betatrong>1,4 ltrong>introng>kage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each trong>betatrong>4GalT has a disttrong>introng>ct function trong>introng> the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane protetrong>introng>s, they have an N-termtrong>introng>al hydrophobic signal sequence that directs the protetrong>introng> to the Golgi apparatus and which then rematrong>introng>s uncleaved to function as a transmembrane anchor. By sequence similarity, the trong>betatrong>4GalTs form four groups: trong>betatrong>4GalT1 and trong>betatrong>4GalT2, trong>betatrong>4GalT3 and trong>betatrong>4GalT4, trong>betatrong>4GalT5 and trong>betatrong>4GalT6, and trong>betatrong>4GalT7. The enzyme encoded by this gene synthesizes N-acetyllactosamtrong>introng>e trong>introng> glycolipids and glycoprotetrong>introng>s. Its substrate specificity is affected by alpha-lactalbumtrong>introng> but it is not expressed trong>introng> lactattrong>introng>g mammary tissue. Three transcript variants encodtrong>introng>g two different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
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UDP-Gal:trong>betatrong>GlcNAc trong>betatrong> 1,4- galactosyltransferase, polypeptide 5
This gene is one of seven trong>betatrong>-1,4-galactosyltransferase (trong>betatrong>4GalT) genes. They encode type II membrane-bound glycoprotetrong>introng>s that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose trong>introng> a trong>betatrong>1,4 ltrong>introng>kage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each trong>betatrong>4GalT has a disttrong>introng>ct function trong>introng> the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane protetrong>introng>s, they have an N-termtrong>introng>al hydrophobic signal sequence that directs the protetrong>introng> to the Golgi apparatus and which then rematrong>introng>s uncleaved to function as a transmembrane anchor. By sequence similarity, the trong>betatrong>4GalTs form four groups: trong>betatrong>4GalT1 and trong>betatrong>4GalT2, trong>betatrong>4GalT3 and trong>betatrong>4GalT4, trong>betatrong>4GalT5 and trong>betatrong>4GalT6, and trong>betatrong>4GalT7. The function of the enzyme encoded by this gene is not clear. This gene was previously designated as B4GALT4 but was renamed to B4GALT5. trong>Introng> the literature it is also referred to as trong>betatrong>4GalT2. [provided by RefSeq, Jul 2008]
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UDP-Gal:trong>betatrong>GlcNAc trong>betatrong> 1,4- galactosyltransferase, polypeptide 4
This gene is one of seven trong>betatrong>-1,4-galactosyltransferase (trong>betatrong>4GalT) genes. They encode type II membrane-bound glycoprotetrong>introng>s that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose trong>introng> a trong>betatrong>1,4 ltrong>introng>kage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each trong>betatrong>4GalT has a disttrong>introng>ct function trong>introng> the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane protetrong>introng>s, they have an N-termtrong>introng>al hydrophobic signal sequence that directs the protetrong>introng> to the Golgi apparatus and which then rematrong>introng>s uncleaved to function as a transmembrane anchor. By sequence similarity, the trong>betatrong>4GalTs form four groups: trong>betatrong>4GalT1 and trong>betatrong>4GalT2, trong>betatrong>4GalT3 and trong>betatrong>4GalT4, trong>betatrong>4GalT5 and trong>betatrong>4GalT6, and trong>betatrong>4GalT7. The enzyme encoded by this gene appears to matrong>introng>ly play a role trong>introng> glycolipid biosynthesis. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
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xylosylprotetrong>introng> trong>betatrong> 1,4-galactosyltransferase, polypeptide 7
This gene is a member of the trong>betatrong>-1,4-galactosyltransferase (trong>betatrong>4GalT) family. Family members encode type II membrane-bound glycoprotetrong>introng>s that appear to have exclusive specificity for the donor substrate UDP-galactose. Each trong>betatrong>4GalT member has a disttrong>introng>ct function trong>introng> the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane protetrong>introng>s, they have an N-termtrong>introng>al hydrophobic signal sequence that directs the protetrong>introng> to the Golgi apparatus which then rematrong>introng>s uncleaved to function as a transmembrane anchor. The enzyme encoded by this gene attaches the first galactose trong>introng> the common carbohydrate-protetrong>introng> ltrong>introng>kage (GlcA-trong>betatrong>1,3-Gal-trong>betatrong>1,3-Gal-trong>betatrong>1,4-Xyl-trong>betatrong>1-O-Ser) found trong>introng> proteoglycans. This enzyme differs from other trong>betatrong>4GalTs because it lacks the conserved Cys residues found trong>introng> trong>betatrong>4GalT1-trong>betatrong>4GalT6 and it is located trong>introng> cis-Golgi trong>introng>stead of trans-Golgi. Mutations trong>introng> this gene have been associated with the progeroid form of Ehlers-Danlos syndrome. [provided by RefSeq, Oct 2009]
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protetrong>introng> phosphatase 2, regulatory subunit A, trong>betatrong>
This gene encodes a constant regulatory subunit of protetrong>introng> phosphatase 2. Protetrong>introng> phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated trong>introng> the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The constant regulatory subunit A serves as a scaffoldtrong>introng>g molecule to coordtrong>introng>ate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes a trong>betatrong> isoform of the constant regulatory subunit A. Mutations trong>introng> this gene have been associated with some lung and colon cancers. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]
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STE20-related ktrong>introng>ase adaptor trong>betatrong> pseudogene 1
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neurotrophtrong>introng> 6 trong>betatrong> (pseudogene)
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mannosidase, trong>betatrong> A, lysosomal-like
Predicted to be located trong>introng> membrane. [provided by Alliance of Genome Resources, Mar 2025]
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ARP1 acttrong>introng>-related protetrong>introng> 1 homolog B, centracttrong>introng> trong>betatrong> (yeast)
This gene encodes a 42.3 kD subunit of dynacttrong>introng>, a macromolecular complex consisttrong>introng>g of 10 subunits rangtrong>introng>g trong>introng> size from 22 to 150 kD. Dynacttrong>introng> btrong>introng>ds to both microtubules and cytoplasmic dynetrong>introng> and is trong>introng>volved trong>introng> a diverse array of cellular functions, trong>introng>cludtrong>introng>g ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, sptrong>introng>dle formation, chromosome movement, nuclear positiontrong>introng>g, and axonogenesis. This subunit, like ACTR1A, is an acttrong>introng>-related protetrong>introng>. These two protetrong>introng>s, which are of equal length and share 90% amtrong>introng>o acid identity, are present trong>introng> a constant ratio of approximately 1:15 trong>introng> the dynacttrong>introng> complex. [provided by RefSeq, Aug 2008]
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phosphatidyltrong>introng>ositol-5-phosphate 4-ktrong>introng>ase, type II, trong>betatrong>
The protetrong>introng> encoded by this gene catalyzes the phosphorylation of phosphatidyltrong>introng>ositol-5-phosphate on the fourth hydroxyl of the myo-trong>introng>ositol rtrong>introng>g to form phosphatidyltrong>introng>ositol-5,4-bisphosphate. This gene is a member of the phosphatidyltrong>introng>ositol-5-phosphate 4-ktrong>introng>ase family. The encoded protetrong>introng> sequence does not show similarity to other ktrong>introng>ases, but the protetrong>introng> does exhibit ktrong>introng>ase activity. Additionally, the encoded protetrong>introng> trong>introng>teracts with p55 TNF trong>receptortrong>. [provided by RefSeq, Jul 2008]
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trong>introng>tegrtrong>introng> trong>betatrong> 1 pseudogene 1
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defenstrong>introng>, trong>betatrong> 116
Defenstrong>introng>s form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defenstrong>introng>s are short, processed peptide molecules that are classified by structure trong>introng>to three groups: alpha-defenstrong>introng>s, trong>betatrong>-defenstrong>introng>s and theta-defenstrong>introng>s. All trong>betatrong>-defenstrong>introng> genes are densely clustered trong>introng> four to five syntenic chromosomal regions. [provided by RefSeq, Oct 2014]
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defenstrong>introng>, trong>betatrong> 117 (pseudogene)
Predicted to be trong>introng>volved trong>introng> defense response to Gram-negative bacterium and trong>introng>nate immune response. Predicted to be located trong>introng> extracellular region. [provided by Alliance of Genome Resources, Mar 2025]
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defenstrong>introng>, trong>betatrong> 114
Defenstrong>introng>s form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defenstrong>introng>s are short, processed peptide molecules that are classified by structure trong>introng>to three groups: alpha-defenstrong>introng>s, trong>betatrong>-defenstrong>introng>s and theta-defenstrong>introng>s. All trong>betatrong>-defenstrong>introng> genes are densely clustered trong>introng> four to five syntenic chromosomal regions. The protetrong>introng> encoded by this gene is a trong>betatrong>-defenstrong>introng> with antimicrobial activity agatrong>introng>st E. coli, S. aureus, and C. albicans. The encoded protetrong>introng> also btrong>introng>ds and neutralizes lipopolysaccharide (LPS), a factor trong>introng>volved trong>introng> trong>introng>flammatory diseases and male reproductive issues. [provided by RefSeq, Nov 2014]
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defenstrong>introng>, trong>betatrong> 115
Defenstrong>introng>s form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defenstrong>introng>s are short, processed peptide molecules that are classified by structure trong>introng>to three groups: alpha-defenstrong>introng>s, trong>betatrong>-defenstrong>introng>s and theta-defenstrong>introng>s. All trong>betatrong>-defenstrong>introng> genes are densely clustered trong>introng> four to five syntenic chromosomal regions. [provided by RefSeq, Oct 2014]
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defenstrong>introng>, trong>betatrong> 112
Defenstrong>introng>s form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defenstrong>introng>s are short, processed peptide molecules that are classified by structure trong>introng>to three groups: alpha-defenstrong>introng>s, trong>betatrong>-defenstrong>introng>s and theta-defenstrong>introng>s. All trong>betatrong>-defenstrong>introng> genes are densely clustered trong>introng> four to five syntenic chromosomal regions. [provided by RefSeq, Oct 2014]
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defenstrong>introng>, trong>betatrong> 113
Defenstrong>introng>s form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defenstrong>introng>s are short, processed peptide molecules that are classified by structure trong>introng>to three groups: alpha-defenstrong>introng>s, trong>betatrong>-defenstrong>introng>s and theta-defenstrong>introng>s. All trong>betatrong>-defenstrong>introng> genes are densely clustered trong>introng> four to five syntenic chromosomal regions. [provided by RefSeq, Oct 2014]
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defenstrong>introng>, trong>betatrong> 110
Defenstrong>introng>s form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defenstrong>introng>s are short, processed peptide molecules that are classified by structure trong>introng>to three groups: alpha-defenstrong>introng>s, trong>betatrong>-defenstrong>introng>s and theta-defenstrong>introng>s. All trong>betatrong>-defenstrong>introng> genes are densely clustered trong>introng> four to five syntenic chromosomal regions. Two transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Oct 2014]
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defenstrong>introng>, trong>betatrong> 118
This gene encodes a member of the trong>betatrong> subfamily of defenstrong>introng>s. trong>Betatrong>-defenstrong>introng>s are antimicrobial peptides that protect tissues and organs from trong>introng>fection by a variety of microorganisms. Expression of this gene is regulated by androgen, and the encoded protetrong>introng> btrong>introng>ds to sperm and exhibits antibacterial activity agatrong>introng>st E. coli. This gene is found trong>introng> a cluster with other trong>betatrong>-defenstrong>introng> genes on the long arm of chromosome 20. [provided by RefSeq, Nov 2014]
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defenstrong>introng>, trong>betatrong> 119
This gene encodes a member of the trong>betatrong> subfamily of defenstrong>introng>s. trong>Betatrong>-defenstrong>introng>s are antimicrobial peptides that protect tissues and organs from trong>introng>fection by a variety of microorganisms. This gene is found trong>introng> a cluster with other trong>betatrong>-defenstrong>introng> genes on the long arm of chromosome 20. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]
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thymostrong>introng> trong>betatrong> 10
Predicted to enable acttrong>introng> monomer btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> regulation of cell migration and sequestertrong>introng>g of acttrong>introng> monomers. Predicted to be located trong>introng> cytoskeleton. Predicted to be active trong>introng> cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]
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trong>betatrong>-1,4-glucuronyltransferase 1
This gene encodes a member of the trong>betatrong>-1,3-N-acetylglucosamtrong>introng>yltransferase family. This enzyme is a type II transmembrane protetrong>introng>. It is essential for the synthesis of poly-N-acetyllactosamtrong>introng>e, a determtrong>introng>ant for the blood group i antigen. [provided by RefSeq, Jul 2008]
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trong>betatrong>-1,3-N-acetylgalactosamtrong>introng>yltransferase 1 (globoside blood group) pseudogene
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amyloid trong>betatrong> (A4) precursor protetrong>introng>-btrong>introng>dtrong>introng>g, family A, member 2 pseudogene
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amyloid trong>betatrong> (A4) precursor protetrong>introng>-btrong>introng>dtrong>introng>g, family A, member 2 pseudogene
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trong>betatrong>-1,3-N-acetylgalactosamtrong>introng>yltransferase 2 pseudogene 1
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proteasome (prosome, macropatrong>introng>) subunit, trong>betatrong> type, 11
Proteasomes generate peptides that are presented by major histocompatibility complex (MHC) I molecules to other cells of the immune system. Proteolysis is conducted by 20S proteasomes, complexes of 28 subunits arranged as a cyltrong>introng>der trong>introng> 4 heteroheptameric rtrong>introng>gs: alpha-1 to -7, trong>betatrong>-1 to -7, trong>betatrong>-1 to -7, and alpha-1 to -7. The catalytic subunits are trong>betatrong>-1 (PSMB6; MIM 600307), trong>betatrong>-2 (PSMB7; MIM 604030), and trong>betatrong>-5 (PSMB5; MIM 600306). Three additional subunits, trong>betatrong>-1i (PSMB9; MIM 177045), trong>betatrong>-2i (PSMB10; MIM 176847), and trong>betatrong>-5i (PSMB8; MIM 177046), are trong>introng>duced by gamma-trong>introng>terferon (IFNG; MIM 147570) and are preferentially trong>introng>corporated trong>introng>to proteasomes to make immunoproteasomes. PSMB11, or trong>betatrong>-5t, is a catalytic subunit expressed exclusively trong>introng> cortical thymic epithelial cells (Murata et al., 2007 [PubMed 17540904]).[supplied by OMIM, Mar 2008]
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proteasome (prosome, macropatrong>introng>) subunit, trong>betatrong> type, 10
The proteasome is a multicatalytic protetrong>introng>ase complex with a highly ordered rtrong>introng>g-shaped 20S core structure. The core structure is composed of 4 rtrong>introng>gs of 28 non-identical subunits; 2 rtrong>introng>gs are composed of 7 alpha subunits and 2 rtrong>introng>gs are composed of 7 trong>betatrong> subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides trong>introng> an ATP/ubiquittrong>introng>-dependent process trong>introng> a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processtrong>introng>g of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core trong>betatrong> subunit. Proteolytic processtrong>introng>g is required to generate a mature subunit. Expression of this gene is trong>introng>duced by gamma trong>introng>terferon, and this gene product replaces catalytic subunit 2 (proteasome trong>betatrong> 7 subunit) trong>introng> the immunoproteasome. [provided by RefSeq, Jul 2008]
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trong>betatrong>-gamma crystalltrong>introng> domatrong>introng> contatrong>introng>trong>introng>g 3
Enables protetrong>introng> ktrong>introng>ase A btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> lens development trong>introng> camera-type eye and visual perception. Part of protetrong>introng>-contatrong>introng>trong>introng>g complex. [provided by Alliance of Genome Resources, Mar 2025]
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phosphate cytidylyltransferase 1, choltrong>introng>e, trong>betatrong>
The protetrong>introng> encoded by this gene belongs to the cytidylyltransferase family. It is trong>introng>volved trong>introng> the regulation of phosphatidylcholtrong>introng>e biosynthesis. Several alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
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sodium channel, voltage gated, type III trong>betatrong> subunit
Voltage-gated sodium channels are transmembrane glycoprotetrong>introng> complexes composed of a large alpha subunit and one or more regulatory trong>betatrong> subunits. They are responsible for the generation and propagation of action potentials trong>introng> neurons and muscle. This gene encodes one member of the sodium channel trong>betatrong> subunit gene family, and trong>introng>fluences the trong>introng>activation ktrong>introng>etics of the sodium channel. Two alternatively spliced variants, encodtrong>introng>g the same protetrong>introng>, have been identified. [provided by RefSeq, Jul 2008]
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mannosyl (alpha-1,6-)-glycoprotetrong>introng> trong>betatrong>-1,6-N-acetyl-glucosamtrong>introng>yltransferase, isozyme B
Enables alpha-1,6-mannosylglycoprotetrong>introng> 6-trong>betatrong>-N-acetylglucosamtrong>introng>yltransferase activity and manganese ion btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> protetrong>introng> O-ltrong>introng>ked glycosylation via sertrong>introng>e. Predicted to be located trong>introng> Golgi membrane. Predicted to be active trong>introng> Golgi apparatus. [provided by Alliance of Genome Resources, Mar 2025]
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GA btrong>introng>dtrong>introng>g protetrong>introng> transcription factor, trong>betatrong> subunit 2
Enables transcription cis-regulatory region btrong>introng>dtrong>introng>g activity. Acts upstream of or withtrong>introng> positive regulation of transcription by RNA polymerase II. Located trong>introng> nucleus. [provided by Alliance of Genome Resources, Mar 2025]
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GA btrong>introng>dtrong>introng>g protetrong>introng> transcription factor, trong>betatrong> subunit 1
This gene encodes the GA-btrong>introng>dtrong>introng>g protetrong>introng> transcription factor, trong>betatrong> subunit. This protetrong>introng> forms a tetrameric complex with the alpha subunit, and stimulates transcription of target genes. The encoded protetrong>introng> may be trong>introng>volved trong>introng> activation of cytochrome oxidase expression and nuclear control of mitochondrial function. The crystal structure of a similar protetrong>introng> trong>introng> mouse has been resolved as a ternary protetrong>introng> complex. Multiple transcript variants encodtrong>introng>g disttrong>introng>ct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
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phosphatidyltrong>introng>ositol-4-phosphate 3-ktrong>introng>ase, catalytic subunit type 2 trong>betatrong>
The protetrong>introng> encoded by this gene belongs to the phosphotrong>introng>ositide 3-ktrong>introng>ase (PI3K) family. PI3-ktrong>introng>ases play roles trong>introng> signaltrong>introng>g pathways trong>introng>volved trong>introng> cell proliferation, oncogenic transformation, cell survival, cell migration, and trong>introng>tracellular protetrong>introng> trafficktrong>introng>g. This protetrong>introng> contatrong>introng>s a lipid ktrong>introng>ase catalytic domatrong>introng> as well as a C-termtrong>introng>al C2 domatrong>introng>, a characteristic of class II PI3-ktrong>introng>ases. C2 domatrong>introng>s act as calcium-dependent phospholipid btrong>introng>dtrong>introng>g motifs that mediate translocation of protetrong>introng>s to membranes, and may also mediate protetrong>introng>-protetrong>introng> trong>introng>teractions. The PI3-ktrong>introng>ase activity of this protetrong>introng> is sensitive to low nanomolar levels of the trong>introng>hibitor wortmantrong>introng>. The C2 domatrong>introng> of this protetrong>introng> was shown to btrong>introng>d phospholipids but not Ca2+, which suggests that this enzyme may function trong>introng> a calcium-trong>introng>dependent manner. [provided by RefSeq, Jul 2008]
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peroxisomal biogenesis factor 11 trong>betatrong>
The protetrong>introng> encoded by this gene facilitates peroxisomal proliferation and trong>introng>teracts with PEX19. The encoded protetrong>introng> is found trong>introng> the peroxisomal membrane. Several transcript variants, some protetrong>introng>-codtrong>introng>g and some not protetrong>introng>-codtrong>introng>g, have been found for this gene. [provided by RefSeq, Dec 2012]
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acttrong>introng>, trong>betatrong>
This gene encodes one of six different acttrong>introng> protetrong>introng>s. Acttrong>introng>s are highly conserved protetrong>introng>s that are trong>introng>volved trong>introng> cell motility, structure, trong>introng>tegrity, and trong>introng>tercellular signaltrong>introng>g. The encoded protetrong>introng> is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal acttrong>introng>s that are ubiquitously expressed. Mutations trong>introng> this gene cause Baraitser-Wtrong>introng>ter syndrome 1, which is characterized by trong>introng>tellectual disability with a disttrong>introng>ctive facial appearance trong>introng> human patients. Numerous pseudogenes of this gene have been identified throughout the human genome. [provided by RefSeq, Aug 2017]
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mannosyl (alpha-1,3-)-glycoprotetrong>introng> trong>betatrong>-1,2-N-acetylglucosamtrong>introng>yltransferase
There are believed to be over 100 different glycosyltransferases trong>introng>volved trong>introng> the synthesis of protetrong>introng>-bound and lipid-bound oligosaccharides. UDP-N-acetylglucosamtrong>introng>e:alpha-3-D-mannoside trong>betatrong>-1,2-N-acetylglucosamtrong>introng>yltransferase I is a medial-Golgi enzyme essential for the synthesis of hybrid and complex N-glycans. The protetrong>introng>, encoded by a strong>introng>gle exon, shows typical features of a type II transmembrane protetrong>introng>. The protetrong>introng> is believed to be essential for normal embryogenesis. Several variants encodtrong>introng>g the same protetrong>introng> have been found for this gene. [provided by RefSeq, Jul 2008]
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mannosyl (alpha-1,6-)-glycoprotetrong>introng> trong>betatrong>-1,2-N-acetylglucosamtrong>introng>yltransferase
The product of this gene is a Golgi enzyme catalyztrong>introng>g an essential step trong>introng> the conversion of oligomannose to complex N-glycans. The enzyme has the typical glycosyltransferase domatrong>introng>s: a short N-termtrong>introng>al cytoplasmic domatrong>introng>, a hydrophobic non-cleavable signal-anchor domatrong>introng>, and a C-termtrong>introng>al catalytic domatrong>introng>. Mutations trong>introng> this gene may lead to carbohydrate-deficient glycoprotetrong>introng> syndrome, type II. The codtrong>introng>g region of this gene is trong>introng>tronless. Transcript variants with a spliced 5' UTR may exist, but their biological validity has not been determtrong>introng>ed. [provided by RefSeq, Jul 2008]
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mannosyl (alpha-1,6-)-glycoprotetrong>introng> trong>betatrong>-1,6-N-acetyl-glucosamtrong>introng>yltransferase
The protetrong>introng> encoded by this gene belongs to the glycosyltransferase family. It catalyzes the addition of trong>betatrong>-1,6-N-acetylglucosamtrong>introng>e to the alpha-ltrong>introng>ked mannose of biantennary N-ltrong>introng>ked oligosaccharides present on the newly synthesized glycoprotetrong>introng>s. It is one of the most important enzymes trong>introng>volved trong>introng> the regulation of the biosynthesis of glycoprotetrong>introng> oligosaccharides. Alterations of the oligosaccharides on cell surface glycoprotetrong>introng>s cause significant changes trong>introng> the adhesive or migratory behavior of a cell. trong>Introng>crease trong>introng> the activity of this enzyme has been correlated with the progression of trong>introng>vasive malignancies. [provided by RefSeq, Oct 2011]
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N-acetylglucosamtrong>introng>e-1-phosphate transferase, alpha and trong>betatrong> subunits
This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamtrong>introng>e-1-phosphotransferase, a heterohexameric complex composed of two alpha, two trong>betatrong>, and two gamma subunits. The encoded protetrong>introng> is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and trong>betatrong> polypeptides while the gamma subunits are the product of a disttrong>introng>ct gene (GeneID 84572). trong>Introng> the Golgi apparatus, the heterohexameric complex catalyzes the first step trong>introng> the synthesis of mannose 6-phosphate recognition markers on certatrong>introng> oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficktrong>introng>g of lysosomal enzymes. Mutations trong>introng> this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010]
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PTPRF trong>introng>teracttrong>introng>g protetrong>introng>, btrong>introng>dtrong>introng>g protetrong>introng> 1 (liprtrong>introng> trong>betatrong> 1)
The protetrong>introng> encoded by this gene is a member of the LAR protetrong>introng>-tyrostrong>introng>e phosphatase-trong>introng>teracttrong>introng>g protetrong>introng> (liprtrong>introng>) family. Liprtrong>introng>s trong>introng>teract with members of LAR family of transmembrane protetrong>introng> tyrostrong>introng>e phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprtrong>introng>s are multivalent protetrong>introng>s that form complex structures and act as scaffolds for the recruitment and anchortrong>introng>g of LAR family of tyrostrong>introng>e phosphatases. This protetrong>introng> was found to trong>introng>teract with S100A4, a calcium-btrong>introng>dtrong>introng>g protetrong>introng> related to tumor trong>introng>vasiveness and metastasis. trong>Introng> vitro experiment demonstrated that the trong>introng>teraction trong>introng>hibited the phosphorylation of this protetrong>introng> by protetrong>introng> ktrong>introng>ase C and protetrong>introng> ktrong>introng>ase CK2. Alternatively spliced transcript variants encodtrong>introng>g disttrong>introng>ct isoforms have been reported. [provided by RefSeq, Jul 2008]
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PTPRF trong>introng>teracttrong>introng>g protetrong>introng>, btrong>introng>dtrong>introng>g protetrong>introng> 2 (liprtrong>introng> trong>betatrong> 2)
This gene encodes a member of the LAR protetrong>introng>-tyrostrong>introng>e phosphatase-trong>introng>teracttrong>introng>g protetrong>introng> (liprtrong>introng>) family. The encoded protetrong>introng> is a trong>betatrong> liprtrong>introng> and plays a role trong>introng> axon guidance and neuronal synapse development by recruittrong>introng>g LAR protetrong>introng>-tyrostrong>introng>e phosphatases to the plasma membrane. Alternatively spliced transcript variants encodtrong>introng>g multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
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tubultrong>introng>, trong>betatrong> 1 class VI pseudogene 1
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tubultrong>introng>, trong>betatrong> 1 class VI pseudogene 2
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defenstrong>introng>, trong>betatrong> 134
Defenstrong>introng>s are cystetrong>introng>e-rich cationic polypeptides that are important trong>introng> the immunologic response to trong>introng>vadtrong>introng>g microorganisms. The antimicrobial protetrong>introng> encoded by this gene is secreted and is a member of the trong>betatrong> defenstrong>introng> protetrong>introng> family. trong>Betatrong> defenstrong>introng> genes are found trong>introng> several clusters throughout the genome, with this gene mapptrong>introng>g to a cluster at 8p23. [provided by RefSeq, Nov 2014]
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defenstrong>introng>, trong>betatrong> 131
Defenstrong>introng>s are cystetrong>introng>e-rich cationic polypeptides that are important trong>introng> the immunologic response to trong>introng>vadtrong>introng>g microorganisms. The antimicrobial protetrong>introng> encoded by this gene is secreted and is a member of the trong>betatrong> defenstrong>introng> protetrong>introng> family. trong>Betatrong> defenstrong>introng> genes are found trong>introng> several clusters throughout the genome, with this gene mapptrong>introng>g to a cluster at 4p16. [provided by RefSeq, Nov 2014]
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transductrong>introng> (trong>betatrong>)-like 1, Y-ltrong>introng>ked pseudogene 1
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glycogen synthase ktrong>introng>ase 3 trong>betatrong>
The protetrong>introng> encoded by this gene is a sertrong>introng>e-threontrong>introng>e ktrong>introng>ase belongtrong>introng>g to the glycogen synthase ktrong>introng>ase subfamily. It is a negative regulator of glucose homeostasis and is trong>introng>volved trong>introng> energy metabolism, trong>introng>flammation, ER-stress, mitochondrial dysfunction, and apoptotic pathways. Defects trong>introng> this gene have been associated with Parktrong>introng>son disease and Alzheimer disease. [provided by RefSeq, Aug 2017]
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lactamase, trong>betatrong>
This gene encodes a mitochondrially-localized protetrong>introng> that has sequence similarity to prokaryotic trong>betatrong>-lactamases. Many of the residues responsible for trong>betatrong>-lactamase activity are not conserved trong>introng> this protetrong>introng>, suggesttrong>introng>g it may have a different enzymatic function. trong>Introng>creased expression of the related mouse gene was found to be associated with obesity. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g different protetrong>introng> isoforms. [provided by RefSeq, Dec 2013]
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succtrong>introng>ate-CoA ligase, ADP-formtrong>introng>g, trong>betatrong> subunit pseudogene 1
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succtrong>introng>ate-CoA ligase, ADP-formtrong>introng>g, trong>betatrong> subunit pseudogene 2
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succtrong>introng>ate-CoA ligase, ADP-formtrong>introng>g, trong>betatrong> subunit pseudogene 3
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pregnancy specific trong>betatrong>-1-glycoprotetrong>introng> 9 pseudogene
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protetrong>introng> phosphatase 2, catalytic subunit, trong>betatrong> isozyme pseudogene 1
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phosphotrong>introng>ositide-3-ktrong>introng>ase, regulatory subunit 2 (trong>betatrong>)
Phosphatidyltrong>introng>ositol 3-ktrong>introng>ase (PI3K) is a lipid ktrong>introng>ase that phosphorylates phosphatidyltrong>introng>ositol and similar compounds, creattrong>introng>g second messengers important trong>introng> growth signaltrong>introng>g pathways. PI3K functions as a heterodimer of a regulatory and a catalytic subunit. The protetrong>introng> encoded by this gene is a regulatory component of PI3K. Three transcript variants, one protetrong>introng> codtrong>introng>g and the other two non-protetrong>introng> codtrong>introng>g, have been found for this gene. [provided by RefSeq, Apr 2019]
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glucuronidase, trong>betatrong> pseudogene
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solute carrier family 51, trong>betatrong> subunit
Predicted to enable bile acid transmembrane transporter activity and protetrong>introng> heterodimerization activity. trong>Introng>volved trong>introng> bile acid secretion. Located trong>introng> basolateral plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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chorionic gonadotroptrong>introng>, trong>betatrong> polypeptide
This gene is a member of the glycoprotetrong>introng> hormone trong>betatrong> trong>chatrong>introng>trong> family and encodes the trong>betatrong> 3 subunit of chorionic gonadotroptrong>introng> (CG). Glycoprotetrong>introng> hormones are heterodimers consisttrong>introng>g of a common alpha subunit and an unique trong>betatrong> subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the matrong>introng>tenance of pregnancy. The trong>betatrong> subunit of CG is encoded by 6 genes which are arranged trong>introng> tandem and trong>introng>verted pairs on chromosome 19q13.3 and contiguous with the lutetrong>introng>iztrong>introng>g hormone trong>betatrong> subunit gene. [provided by RefSeq, Jul 2008]
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platelet-derived growth factor trong>betatrong> polypeptide
This gene encodes a member of the protetrong>introng> family comprised of both platelet-derived growth factors (PDGF) and vascular endothelial growth factors (VEGF). The encoded preproprotetrong>introng> is proteolytically processed to generate platelet-derived growth factor subunit B, which can homodimerize, or alternatively, heterodimerize with the related platelet-derived growth factor subunit A. These protetrong>introng>s btrong>introng>d and activate PDGF trong>receptortrong> tyrostrong>introng>e ktrong>introng>ases, which play a role trong>introng> a wide range of developmental processes. Mutations trong>introng> this gene are associated with mentrong>introng>gioma. Reciprocal translocations between chromosomes 22 and 17, at sites where this gene and that for collagen type 1, alpha 1 are located, are associated with dermatofibrosarcoma protuberans, a rare sktrong>introng> tumor. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Oct 2015]
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protetrong>introng> ktrong>introng>ase, cAMP-dependent, regulatory, type I, trong>betatrong>
The protetrong>introng> encoded by this gene is a regulatory subunit of cyclic AMP-dependent protetrong>introng> ktrong>introng>ase A (PKA), which is trong>introng>volved trong>introng> the signaltrong>introng>g pathway of the second messenger cAMP. Two regulatory and two catalytic subunits form the PKA holoenzyme, disbands after cAMP btrong>introng>dtrong>introng>g. The holoenzyme is trong>introng>volved trong>introng> many cellular events, trong>introng>cludtrong>introng>g ion transport, metabolism, and transcription. Several transcript variants encodtrong>introng>g the same protetrong>introng> have been found for this gene. [provided by RefSeq, Aug 2015]
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MFNG O-fucosylpeptide 3-trong>betatrong>-N-acetylglucosamtrong>introng>yltransferase
This gene is a member of the glycosyltransferase 31 gene family. Members of this gene family, which also trong>introng>cludes the LFNG (GeneID: 3955) and RFNG (GeneID: 5986) genes, encode evolutionarily conserved glycosyltransferases that act trong>introng> the Notch signaltrong>introng>g pathway to deftrong>introng>e boundaries durtrong>introng>g embryonic development. While their genomic structure is disttrong>introng>ct from other glycosyltransferases, these protetrong>introng>s have a fucose-specific trong>betatrong>-1,3-N-acetylglucosamtrong>introng>yltransferase activity that leads to elongation of O-ltrong>introng>ked fucose residues on Notch, which alters Notch signaltrong>introng>g. The protetrong>introng> encoded by this gene may control Notch signaltrong>introng>g trong>introng> claudtrong>introng>-low breast cancer. [provided by RefSeq, May 2018]
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complement component 4 btrong>introng>dtrong>introng>g protetrong>introng>, trong>betatrong>
This gene encodes a member of a superfamily of protetrong>introng>s composed predomtrong>introng>antly of tandemly arrayed short consensus repeats of approximately 60 amtrong>introng>o acids. A strong>introng>gle, unique trong>betatrong>-trong>chatrong>introng>trong> encoded by this gene assembles with seven identical alpha-trong>chatrong>introng>trong>s trong>introng>to the predomtrong>introng>ant isoform of C4b-btrong>introng>dtrong>introng>g protetrong>introng>, a multimeric protetrong>introng> that controls activation of the complement cascade through the classical pathway. C4b-btrong>introng>dtrong>introng>g protetrong>introng> has a regulatory role trong>introng> the coagulation system also, mediated through the trong>betatrong>-trong>chatrong>introng>trong> btrong>introng>dtrong>introng>g of protetrong>introng> S, a vitamtrong>introng> K-dependent protetrong>introng> that serves as a cofactor of activated protetrong>introng> C. The genes encodtrong>introng>g both alpha and trong>betatrong> trong>chatrong>introng>trong>s are located adjacent to each other on human chromosome 1 trong>introng> the regulator of complement activation gene cluster. Alternative splictrong>introng>g gives rise to multiple transcript variants. [provided by RefSeq, Jul 2008]
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NADH dehydrogenase (ubiqutrong>introng>one) 1 trong>betatrong> subcomplex, 8, pseudogene 1
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NADH dehydrogenase (ubiqutrong>introng>one) 1 trong>betatrong> subcomplex, 8, pseudogene 3
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arresttrong>introng>, trong>betatrong> 2
Members of arresttrong>introng>/trong>betatrong>-arresttrong>introng> protetrong>introng> family are thought to participate trong>introng> agonist-mediated desensitization of G-protetrong>introng>-coupled trong>receptortrong>s and cause specific dampentrong>introng>g of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. Arresttrong>introng> trong>betatrong> 2, like arresttrong>introng> trong>betatrong> 1, was shown to trong>introng>hibit trong>betatrong>-adrenergic trong>receptortrong> function trong>introng> vitro. It is expressed at high levels trong>introng> the central nervous system and may play a role trong>introng> the regulation of synaptic trong>receptortrong>s. Besides the bratrong>introng>, a cDNA for arresttrong>introng> trong>betatrong> 2 was isolated from thyroid gland, and thus it may also be trong>introng>volved trong>introng> hormone-specific desensitization of TSH trong>receptortrong>s. Multiple alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]
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arresttrong>introng>, trong>betatrong> 1
Members of arresttrong>introng>/trong>betatrong>-arresttrong>introng> protetrong>introng> family are thought to participate trong>introng> agonist-mediated desensitization of G-protetrong>introng>-coupled trong>receptortrong>s and cause specific dampentrong>introng>g of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. Arresttrong>introng> trong>betatrong> 1 is a cytosolic protetrong>introng> and acts as a cofactor trong>introng> the trong>betatrong>-adrenergic trong>receptortrong> ktrong>introng>ase (BARK) mediated desensitization of trong>betatrong>-adrenergic trong>receptortrong>s. Besides the central nervous system, it is expressed at high levels trong>introng> peripheral blood leukocytes, and thus the BARK/trong>betatrong>-arresttrong>introng> system is believed to play a major role trong>introng> regulattrong>introng>g trong>receptortrong>-mediated immune functions. Alternatively spliced transcripts encodtrong>introng>g different isoforms of arresttrong>introng> trong>betatrong> 1 have been described. [provided by RefSeq, Jan 2011]
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nuclear transcription factor Y, trong>betatrong> pseudogene
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pregnancy specific trong>betatrong>-1-glycoprotetrong>introng> 11
The human pregnancy-specific glycoprotetrong>introng>s (PSGs) are a group of molecules that are matrong>introng>ly produced by the placental syncytiotrophoblasts durtrong>introng>g pregnancy. PSGs comprise a subgroup of the carctrong>introng>oembryonic antigen (CEA) family, which belongs to the immunoglobultrong>introng> superfamily. For additional general trong>introng>formation about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009]
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lutetrong>introng>iztrong>introng>g hormone trong>betatrong> polypeptide
This gene is a member of the glycoprotetrong>introng> hormone trong>betatrong> trong>chatrong>introng>trong> family and encodes the trong>betatrong> subunit of lutetrong>introng>iztrong>introng>g hormone (LH). Glycoprotetrong>introng> hormones are heterodimers consisttrong>introng>g of a common alpha subunit and an unique trong>betatrong> subunit which confers biological specificity. LH is expressed trong>introng> the pituitary gland and promotes spermatogenesis and ovulation by stimulattrong>introng>g the testes and ovaries to synthesize steroids. The genes for the trong>betatrong> trong>chatrong>introng>trong>s of chorionic gonadotroptrong>introng> and for lutetrong>introng>iztrong>introng>g hormone are contiguous on chromosome 19q13.3. Mutations trong>introng> this gene are associated with hypogonadism which is characterized by trong>introng>fertility and pseudohermaphroditism. [provided by RefSeq, Jul 2008]
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capptrong>introng>g protetrong>introng> (acttrong>introng> filament) muscle Z-ltrong>introng>e, trong>betatrong>
This gene encodes the trong>betatrong> subunit of the barbed-end acttrong>introng> btrong>introng>dtrong>introng>g protetrong>introng>, which belongs to the F-acttrong>introng> capptrong>introng>g protetrong>introng> family. The capptrong>introng>g protetrong>introng> is a heterodimeric acttrong>introng> capptrong>introng>g protetrong>introng> that blocks acttrong>introng> filament assembly and disassembly at the fast growtrong>introng>g (barbed) filament ends and functions trong>introng> regulattrong>introng>g acttrong>introng> filament dynamics as well as trong>introng> stabiliztrong>introng>g acttrong>introng> filament lengths trong>introng> muscle and nonmuscle cells. A pseudogene of this gene is located on the long arm of chromosome 2. Multiple alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found.[provided by RefSeq, Aug 2013]
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topoisomerase (DNA) III trong>betatrong> pseudogene 1
This gene was predicted by automated computational analysis. It encodes a protetrong>introng> with similarity to human topoisomerase (DNA) III trong>betatrong>, which is thought to relax supercoiled DNA upon replication, transcription, and cell division. This gene lies trong>introng> the immunoglobultrong>introng> lambda gene cluster on chromosome 22q11.21. [provided by RefSeq, Jul 2008]
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tubultrong>introng>, trong>betatrong> 4B class IVb pseudogene 6
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tubultrong>introng>, trong>betatrong> 6 class V pseudogene
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thymostrong>introng> trong>betatrong> 15B
Predicted to enable acttrong>introng> monomer btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> positive regulation of cell migration. Predicted to be located trong>introng> cytoskeleton. Predicted to be active trong>introng> cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]
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thymostrong>introng> trong>betatrong> 15a
Predicted to enable acttrong>introng> monomer btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> positive regulation of cell migration. Predicted to be located trong>introng> cytoskeleton. Predicted to be active trong>introng> cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]
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protetrong>introng> S (trong>betatrong>) pseudogene
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STE20-related ktrong>introng>ase adaptor trong>betatrong>
This gene encodes a protetrong>introng> that belongs to the sertrong>introng>e/threontrong>introng>e protetrong>introng> ktrong>introng>ase STE20 subfamily. One of the active site residues trong>introng> the protetrong>introng> ktrong>introng>ase domatrong>introng> of this protetrong>introng> is altered, and it is thus a pseudoktrong>introng>ase. This protetrong>introng> is a component of a complex trong>introng>volved trong>introng> the activation of sertrong>introng>e/threontrong>introng>e ktrong>introng>ase 11, a master ktrong>introng>ase that regulates cell polarity and energy-generattrong>introng>g metabolism. This complex regulates the relocation of this ktrong>introng>ase from the nucleus to the cytoplasm, and it is essential for G1 cell cycle arrest mediated by this ktrong>introng>ase. The protetrong>introng> encoded by this gene can also trong>introng>teract with the X chromosome-ltrong>introng>ked trong>introng>hibitor of apoptosis protetrong>introng>, and this trong>introng>teraction enhances the anti-apoptotic activity of this protetrong>introng> via the JNK1 signal transduction pathway. Two pseudogenes, located on chromosomes 1 and 7, have been found for this gene. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, May 2011]
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acttrong>introng>, trong>betatrong> pseudogene
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ALG1, chitobiosyldiphosphodolichol trong>betatrong>-mannosyltransferase-like
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hydroxysteroid (17-trong>betatrong>) dehydrogenase 10
This gene encodes 3-hydroxyacyl-CoA dehydrogenase type II, a member of the short-trong>chatrong>introng>trong> dehydrogenase/reductase superfamily. The gene product is a mitochondrial protetrong>introng> that catalyzes the oxidation of a wide variety of fatty acids and steroids, and is a subunit of mitochondrial ribonuclease P, which is trong>introng>volved trong>introng> tRNA maturation. The protetrong>introng> has been implicated trong>introng> the development of Alzheimer disease, and mutations trong>introng> the gene are the cause of 17trong>betatrong>-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determtrong>introng>ed. [provided by RefSeq, Aug 2014]
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guantrong>introng>e nucleotide btrong>introng>dtrong>introng>g protetrong>introng> (G protetrong>introng>), trong>betatrong> 5
Heterotrimeric guantrong>introng>e nucleotide-btrong>introng>dtrong>introng>g protetrong>introng>s (G protetrong>introng>s), which trong>introng>tegrate signals between trong>receptortrong>s and effector protetrong>introng>s, are composed of an alpha, a trong>betatrong>, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a trong>betatrong> subunit. trong>Betatrong> subunits are important regulators of alpha subunits, as well as of certatrong>introng> signal transduction trong>receptortrong>s and effectors. Alternatively spliced transcript variants encodtrong>introng>g different isoforms exist. [provided by RefSeq, Jul 2008]
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guantrong>introng>e nucleotide btrong>introng>dtrong>introng>g protetrong>introng> (G protetrong>introng>), trong>betatrong> polypeptide 4
Heterotrimeric guantrong>introng>e nucleotide-btrong>introng>dtrong>introng>g protetrong>introng>s (G protetrong>introng>s), which trong>introng>tegrate signals between trong>receptortrong>s and effector protetrong>introng>s, are composed of an alpha, a trong>betatrong>, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a trong>betatrong> subunit. trong>Betatrong> subunits are important regulators of alpha subunits, as well as of certatrong>introng> signal transduction trong>receptortrong>s and effectors. [provided by RefSeq, Jul 2008]
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guantrong>introng>e nucleotide btrong>introng>dtrong>introng>g protetrong>introng> (G protetrong>introng>), trong>betatrong> polypeptide 1
Heterotrimeric guantrong>introng>e nucleotide-btrong>introng>dtrong>introng>g protetrong>introng>s (G protetrong>introng>s), which trong>introng>tegrate signals between trong>receptortrong>s and effector protetrong>introng>s, are composed of an alpha, a trong>betatrong>, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a trong>betatrong> subunit. trong>Betatrong> subunits are important regulators of alpha subunits, as well as of certatrong>introng> signal transduction trong>receptortrong>s and effectors. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Sep 2013]
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guantrong>introng>e nucleotide btrong>introng>dtrong>introng>g protetrong>introng> (G protetrong>introng>), trong>betatrong> polypeptide 3
Heterotrimeric guantrong>introng>e nucleotide-btrong>introng>dtrong>introng>g protetrong>introng>s (G protetrong>introng>s), which trong>introng>tegrate signals between trong>receptortrong>s and effector protetrong>introng>s, are composed of an alpha, a trong>betatrong>, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a trong>betatrong> subunit which belongs to the WD repeat G protetrong>introng> trong>betatrong> family. trong>Betatrong> subunits are important regulators of alpha subunits, as well as of certatrong>introng> signal transduction trong>receptortrong>s and effectors. A strong>introng>gle-nucleotide polymorphism (C825T) trong>introng> this gene is associated with essential hypertension and obesity. This polymorphism is also associated with the occurrence of the splice variant GNB3-s, which appears to have trong>introng>creased activity. GNB3-s is an example of alternative splictrong>introng>g caused by a nucleotide change outside of the splice donor and acceptor sites. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014]
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guantrong>introng>e nucleotide btrong>introng>dtrong>introng>g protetrong>introng> (G protetrong>introng>), trong>betatrong> polypeptide 2
Heterotrimeric guantrong>introng>e nucleotide-btrong>introng>dtrong>introng>g protetrong>introng>s (G protetrong>introng>s), which trong>introng>tegrate signals between trong>receptortrong>s and effector protetrong>introng>s, are composed of an alpha, a trong>betatrong>, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a trong>betatrong> subunit. trong>Betatrong> subunits are important regulators of alpha subunits, as well as of certatrong>introng> signal transduction trong>receptortrong>s and effectors. This gene contatrong>introng>s a trtrong>introng>ucleotide (CCG) repeat length polymorphism trong>introng> its 5' UTR. [provided by RefSeq, Jul 2008]
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filamtrong>introng> B, trong>betatrong>
This gene encodes a member of the filamtrong>introng> family. The encoded protetrong>introng> trong>introng>teracts with glycoprotetrong>introng> Ib alpha as part of the process to repair vascular trong>introng>juries. The platelet glycoprotetrong>introng> Ib complex trong>introng>cludes glycoprotetrong>introng> Ib alpha, and it btrong>introng>ds the acttrong>introng> cytoskeleton. Mutations trong>introng> this gene have been found trong>introng> several conditions: atelosteogenesis type 1 and type 3; boomerang dysplasia; autosomal domtrong>introng>ant Larsen syndrome; and spondylocarpotarsal synostosis syndrome. Multiple alternatively spliced transcript variants that encode different protetrong>introng> isoforms have been described for this gene. [provided by RefSeq, Nov 2009]
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amyloid trong>betatrong> (A4) precursor-like protetrong>introng> 1
This gene encodes a member of the highly conserved amyloid precursor protetrong>introng> gene family. The encoded protetrong>introng> is a membrane-associated glycoprotetrong>introng> that is cleaved by secretases trong>introng> a manner similar to amyloid trong>betatrong> A4 precursor protetrong>introng> cleavage. This cleavage liberates an trong>introng>tracellular cytoplasmic fragment that may act as a transcriptional activator. The encoded protetrong>introng> may also play a role trong>introng> synaptic maturation durtrong>introng>g cortical development. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been described. [provided by RefSeq, Jul 2008]
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polymerase (DNA directed), trong>betatrong>
The protetrong>introng> encoded by this gene is a DNA polymerase trong>introng>volved trong>introng> base excision and repair, also called gap-filltrong>introng>g DNA synthesis. The encoded protetrong>introng>, acttrong>introng>g as a monomer, is normally found trong>introng> the cytoplasm, but it translocates to the nucleus upon DNA damage. Several transcript variants of this gene exist, but the full-length nature of only one has been described to date. [provided by RefSeq, Sep 2011]
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glucuronidase, trong>betatrong> pseudogene
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NADH dehydrogenase (ubiqutrong>introng>one) 1 trong>betatrong> subcomplex, 9, 22kDa pseudogene
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defenstrong>introng>, trong>betatrong> 129
Defenstrong>introng>s are cystetrong>introng>e-rich cationic polypeptides that are important trong>introng> the immunologic response to trong>introng>vadtrong>introng>g microorganisms. The antimicrobial protetrong>introng> encoded by this gene is secreted and is a member of the trong>betatrong> defenstrong>introng> protetrong>introng> family. trong>Betatrong> defenstrong>introng> genes are found trong>introng> several clusters throughout the genome, with this gene mapptrong>introng>g to a cluster at 20p13. [provided by RefSeq, Nov 2014]
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defenstrong>introng>, trong>betatrong> 128
Defenstrong>introng>s are cystetrong>introng>e-rich cationic polypeptides that are important trong>introng> the immunologic response to trong>introng>vadtrong>introng>g microorganisms. The antimicrobial protetrong>introng> encoded by this gene is secreted and is a member of the trong>betatrong> defenstrong>introng> protetrong>introng> family. trong>Betatrong> defenstrong>introng> genes are found trong>introng> several clusters throughout the genome, with this gene mapptrong>introng>g to a cluster at 20p13. [provided by RefSeq, Nov 2014]
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defenstrong>introng>, trong>betatrong> 127
Defenstrong>introng>s are cystetrong>introng>e-rich cationic polypeptides that are important trong>introng> the immunologic response to trong>introng>vadtrong>introng>g microorganisms. The antimicrobial protetrong>introng> encoded by this gene is secreted and is a member of the trong>betatrong> defenstrong>introng> protetrong>introng> family. trong>Betatrong> defenstrong>introng> genes are found trong>introng> several clusters throughout the genome, with this gene mapptrong>introng>g to a cluster at 20p13. [provided by RefSeq, Nov 2014]
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defenstrong>introng>, trong>betatrong> 126
Defenstrong>introng>s are cystetrong>introng>e-rich cationic polypeptides that are important trong>introng> the immunologic response to trong>introng>vadtrong>introng>g microorganisms. The antimicrobial protetrong>introng> encoded by this gene is secreted and is a member of the trong>betatrong> defenstrong>introng> protetrong>introng> family. trong>Betatrong> defenstrong>introng> genes are found trong>introng> several clusters throughout the genome, with this gene mapptrong>introng>g to a cluster at 20p13. The encoded protetrong>introng> is highly similar to an epididymal-specific secretory protetrong>introng> (ESP13.2) from cynomolgus monkey. Mutation of this gene is associated with impaired sperm function. [provided by RefSeq, Nov 2014]
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defenstrong>introng>, trong>betatrong> 125
Defenstrong>introng>s are cystetrong>introng>e-rich cationic polypeptides that are important trong>introng> the host immunologic response to trong>introng>vadtrong>introng>g microorganisms. The antimicrobial protetrong>introng> encoded by this gene is secreted and is a member of the trong>betatrong> defenstrong>introng> protetrong>introng> family. trong>Betatrong> defenstrong>introng> genes are found trong>introng> several clusters throughout the genome, with this gene mapptrong>introng>g to a cluster at 20p13. [provided by RefSeq, Nov 2014]
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defenstrong>introng>, trong>betatrong> 123
Defenstrong>introng>s are cystetrong>introng>e-rich cationic polypeptides that are important trong>introng> the host immunologic response to trong>introng>vadtrong>introng>g microorganisms. This antimicrobial protetrong>introng> is secreted and is a member of the trong>betatrong> defenstrong>introng> protetrong>introng> family. trong>Betatrong> defenstrong>introng> genes are found trong>introng> several clusters throughout the genome, with this gene mapptrong>introng>g to a cluster at 20q11.1. Two transcript variants, one protetrong>introng>-codtrong>introng>g and the other not, have been found for this gene. [provided by RefSeq, Nov 2014]
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defenstrong>introng>, trong>betatrong> 122 (pseudogene)
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coatomer protetrong>introng> complex, subunit trong>betatrong> 1
This gene encodes a protetrong>introng> subunit of the coatomer complex associated with non-clathrtrong>introng> coated vesicles. The coatomer complex, also known as the coat protetrong>introng> complex 1, forms trong>introng> the cytoplasm and is recruited to the Golgi by activated guanostrong>introng>e triphosphatases. Once at the Golgi membrane, the coatomer complex may assist trong>introng> the movement of protetrong>introng> and lipid components back to the endoplasmic reticulum. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]
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galactosidase, trong>betatrong> 1-like
Predicted to enable trong>betatrong>-galactosidase activity. Predicted to be trong>introng>volved trong>introng> galactose catabolic process. Predicted to be located trong>introng> extracellular region. Predicted to be active trong>introng> vacuole. [provided by Alliance of Genome Resources, Mar 2025]
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eukaryotic translation elongation factor 1 trong>betatrong> 2
This gene encodes a translation elongation factor. The protetrong>introng> is a guantrong>introng>e nucleotide exchange factor trong>introng>volved trong>introng> the transfer of amtrong>introng>oacylated tRNAs to the ribosome. Alternative splictrong>introng>g results trong>introng> three transcript variants which differ only trong>introng> the 5' UTR. [provided by RefSeq, Jul 2008]
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protetrong>introng> ktrong>introng>ase, cAMP-dependent, regulatory, type II, trong>betatrong> pseudogene
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heat shock protetrong>introng> 90kDa trong>betatrong> (Grp94), member 2, pseudogene
Predicted to enable several functions, trong>introng>cludtrong>introng>g ATP btrong>introng>dtrong>introng>g activity; ATP hydrolysis activity; and unfolded protetrong>introng> btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> protetrong>introng> foldtrong>introng>g. Predicted to be active trong>introng> mitochondrial trong>introng>ner membrane. [provided by Alliance of Genome Resources, Mar 2025]
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transductrong>introng> (trong>betatrong>)-like 2
This gene encodes a member of the trong>betatrong>-transductrong>introng> protetrong>introng> family. Most protetrong>introng>s of the trong>betatrong>-transductrong>introng> family are trong>introng>volved trong>introng> regulatory functions. This protetrong>introng> is possibly trong>introng>volved trong>introng> some trong>introng>tracellular signaltrong>introng>g pathway. This gene is deleted trong>introng> Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008]
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transductrong>introng> (trong>betatrong>)-like 3
The protetrong>introng> encoded by this gene has sequence similarity with members of the WD40 repeat-contatrong>introng>trong>introng>g protetrong>introng> family. The WD40 group is a large family of protetrong>introng>s, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protetrong>introng>-protetrong>introng> trong>introng>teractions and members of the family are trong>introng>volved trong>introng> signal transduction, RNA processtrong>introng>g, gene regulation, vesicular trafficktrong>introng>g, cytoskeletal assembly and may play a role trong>introng> the control of cytotypic differentiation. This gene has multiple polyadenylation sites. It might have multiple alternatively spliced transcript variants but the variants have not been fully described yet. [provided by RefSeq, Jul 2008]
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mannosidase, trong>betatrong> B, soluble
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mannosidase, trong>betatrong> A, lysosomal
This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protetrong>introng> localizes to the lysosome where it is the ftrong>introng>al exoglycosidase trong>introng> the pathway for N-ltrong>introng>ked glycoprotetrong>introng> oligosaccharide catabolism. Mutations trong>introng> this gene are associated with trong>betatrong>-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological trong>introng>volvement. [provided by RefSeq, Jul 2008]
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tubultrong>introng>, trong>betatrong> 8 class VIII pseudogene 8
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tubultrong>introng>, trong>betatrong> 8 class VIII pseudogene 5
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casetrong>introng> ktrong>introng>ase 2, trong>betatrong> polypeptide
This gene encodes the trong>betatrong> subunit of casetrong>introng> ktrong>introng>ase II, a ubiquitous protetrong>introng> ktrong>introng>ase which regulates metabolic pathways, signal transduction, transcription, translation, and replication. The enzyme is composed of three subunits, alpha, alpha prime and trong>betatrong>, which form a tetrameric holoenzyme. The alpha and alpha prime subunits are catalytic, while the trong>betatrong> subunit serves regulatory functions. The enzyme localizes to the endoplasmic reticulum and the Golgi apparatus. Two transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
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ATPase, Na+/K+ transporttrong>introng>g, trong>betatrong> 3 pseudogene
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eukaryotic translation trong>introng>itiation factor 2, subunit 2 trong>betatrong>, 38kDa
Eukaryotic translation trong>introng>itiation factor 2 (EIF-2) functions trong>introng> the early steps of protetrong>introng> synthesis by formtrong>introng>g a ternary complex with GTP and trong>introng>itiator tRNA and btrong>introng>dtrong>introng>g to a 40S ribosomal subunit. EIF-2 is composed of three subunits, alpha, trong>betatrong>, and gamma, with the protetrong>introng> encoded by this gene representtrong>introng>g the trong>betatrong> subunit. The trong>betatrong> subunit catalyzes the exchange of GDP for GTP, which recycles the EIF-2 complex for another round of trong>introng>itiation. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
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catentrong>introng>, trong>betatrong> like 1 pseudogene
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NADH dehydrogenase (ubiqutrong>introng>one) 1 trong>betatrong> subcomplex, 4, 15kDa pseudogene 2
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phenylalanyl-tRNA synthetase, trong>betatrong> subunit
This gene encodes a highly conserved enzyme that belongs to the amtrong>introng>oacyl-tRNA synthetase class IIc subfamily. This enzyme comprises the regulatory trong>betatrong> subunits that form a tetramer with two catalytic alpha subunits. trong>Introng> the presence of ATP, this tetramer is responsible for attachtrong>introng>g L-phenylalantrong>introng>e to the termtrong>introng>al adenostrong>introng>e of the appropriate tRNA. A pseudogene located on chromosome 10 has been identified. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jan 2015]
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hydroxy-delta-5-steroid dehydrogenase, 3 trong>betatrong>, pseudogene 1
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hydroxy-delta-5-steroid dehydrogenase, 3 trong>betatrong>, pseudogene 3
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hydroxy-delta-5-steroid dehydrogenase, 3 trong>betatrong>, pseudogene 2
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hydroxy-delta-5-steroid dehydrogenase, 3 trong>betatrong>, pseudogene 5
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hydroxy-delta-5-steroid dehydrogenase, 3 trong>betatrong>, pseudogene 4
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topoisomerase (DNA) II trong>betatrong> 180kDa
This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA durtrong>introng>g transcription. This nuclear enzyme is trong>introng>volved trong>introng> processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs durtrong>introng>g DNA transcription and replication. It catalyzes the transient breaktrong>introng>g and rejotrong>introng>trong>introng>g of two strands of duplex DNA which allows the strands to pass through one another, thus altertrong>introng>g the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encodtrong>introng>g this form, trong>betatrong>, is localized to chromosome 3 and the alpha form is localized to chromosome 17. The gene encodtrong>introng>g this enzyme functions as the target for several anticancer agents and a variety of mutations trong>introng> this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role trong>introng> ataxia-telangiectasia. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Aug 2016]
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NADH dehydrogenase (ubiqutrong>introng>one) 1 trong>betatrong> subcomplex, 3, 12kDa pseudogene 5
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sarcoglycan, trong>betatrong> (43kDa dystrophtrong>introng>-associated glycoprotetrong>introng>)
This gene encodes a member of the sarcoglycan family. Sarcoglycans are transmembrane components trong>introng> the dystrophtrong>introng>-glycoprotetrong>introng> complex which help stabilize the muscle fiber membranes and ltrong>introng>k the muscle cytoskeleton to the extracellular matrix. Mutations trong>introng> this gene have been associated with limb-girdle muscular dystrophy.[provided by RefSeq, Oct 2008]
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isocitrate dehydrogenase 3 (NAD+) trong>betatrong>
Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two disttrong>introng>ct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predomtrong>introng>antly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limittrong>introng>g step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one trong>betatrong> subunit, and one gamma subunit. The protetrong>introng> encoded by this gene is the trong>betatrong> subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. Multiple alternatively spliced transcript variants encodtrong>introng>g different isoforms have been described for this gene. [provided by RefSeq, Sep 2016]
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diacylglycerol ktrong>introng>ase, trong>betatrong> 90kDa
Diacylglycerol ktrong>introng>ases (DGKs) are regulators of the trong>introng>tracellular concentration of the second messenger diacylglycerol (DAG) and thus play a key role trong>introng> cellular processes. Ntrong>introng>e mammalian isotypes have been identified, which are encoded by separate genes. Mammalian DGK isozymes contatrong>introng> a conserved catalytic (ktrong>introng>ase) domatrong>introng> and a cystetrong>introng>e-rich domatrong>introng> (CRD). The protetrong>introng> encoded by this gene is a diacylglycerol ktrong>introng>ase, trong>betatrong> isotype. Several alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Apr 2017]
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tectortrong>introng> trong>betatrong>
This gene encodes a non-collagenous glycoprotetrong>introng> component of the tectorial membrane, which covers the auditory hair cells trong>introng> the cochlea of the trong>introng>ner ear. A similar protetrong>introng> trong>introng> mouse functions trong>introng> low-frequency heartrong>introng>g. [provided by RefSeq, Jul 2013]
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amyloid trong>betatrong> precursor protetrong>introng> (cytoplasmic tail) btrong>introng>dtrong>introng>g protetrong>introng> 2
The protetrong>introng> encoded by this gene trong>introng>teracts with microtubules and is functionally associated with trong>betatrong>-amyloid precursor protetrong>introng> transport and/or processtrong>introng>g. The trong>betatrong>-amyloid precursor protetrong>introng> is a cell surface protetrong>introng> with signal-transductrong>introng>g properties, and it is thought to play a role trong>introng> the pathogenesis of Alzheimer's disease. The encoded protetrong>introng> may be trong>introng>volved trong>introng> regulattrong>introng>g cell death. This gene has been found to be highly expressed trong>introng> breast cancer. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Sep 2013]
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general transcription factor IIE, polypeptide 2, trong>betatrong> 34kDa pseudogene
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NADH dehydrogenase (ubiqutrong>introng>one) 1 trong>betatrong> subcomplex, 9, 22kDa
The protetrong>introng> encoded by this gene is a subunit of the mitochondrial oxidative phosphorylation complex I (nicottrong>introng>amide adentrong>introng>e dtrong>introng>ucleotide: ubiqutrong>introng>one oxidoreductase). Complex I is localized to the trong>introng>ner mitochondrial membrane and functions to dehydrogenate nicottrong>introng>amide adentrong>introng>e dtrong>introng>ucleotide and to shuttle electrons to coenzyme Q. Complex I deficiency is the most common defect found trong>introng> oxidative phosphorylation disorders and results trong>introng> a range of conditions, trong>introng>cludtrong>introng>g lethal neonatal disease, hypertrophic cardiomyopathy, liver disease, and adult-onset neurodegenerative disorders. Pseudogenes of this gene are found on chromosomes five, seven and eight. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jul 2015]
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NADH dehydrogenase (ubiqutrong>introng>one) 1 trong>betatrong> subcomplex, 8, 19kDa
Predicted to enable NADH dehydrogenase (ubiqutrong>introng>one) activity. trong>Introng>volved trong>introng> mitochondrial respiratory trong>chatrong>introng>trong> complex I assembly. Located trong>introng> mitochondrion. Part of mitochondrial trong>introng>ner membrane and respiratory trong>chatrong>introng>trong> complex I. Implicated trong>introng> nuclear type mitochondrial complex I deficiency 32. Biomarker of Alzheimer's disease and Parktrong>introng>son's disease. [provided by Alliance of Genome Resources, Mar 2025]
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NADH dehydrogenase (ubiqutrong>introng>one) 1 trong>betatrong> subcomplex, 7, 18kDa
The protetrong>introng> encoded by this gene is a subunit of the multisubunit NADH:ubiqutrong>introng>one oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It is located at the mitochondrial trong>introng>ner membrane. This protetrong>introng> has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory trong>chatrong>introng>trong>. The immediate electron acceptor for the enzyme is believed to be ubiqutrong>introng>one. [provided by RefSeq, Jul 2008]
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NADH dehydrogenase (ubiqutrong>introng>one) 1 trong>betatrong> subcomplex, 6, 17kDa
The protetrong>introng> encoded by this gene is a subunit of the multisubunit NADH:ubiqutrong>introng>one oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial trong>introng>ner membrane. This protetrong>introng> has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory trong>chatrong>introng>trong>. The immediate electron acceptor for the enzyme is believed to be ubiqutrong>introng>one. Alternative splictrong>introng>g occurs at this locus and three transcript variants encodtrong>introng>g disttrong>introng>ct isoforms have been identified. [provided by RefSeq, Jan 2011]
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NADH dehydrogenase (ubiqutrong>introng>one) 1 trong>betatrong> subcomplex, 5, 16kDa
The protetrong>introng> encoded by this gene is a subunit of the multisubunit NADH:ubiqutrong>introng>one oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial trong>introng>ner membrane. This protetrong>introng> has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory trong>chatrong>introng>trong>. The immediate electron acceptor for the enzyme is believed to be ubiqutrong>introng>one. Three transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
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NADH dehydrogenase (ubiqutrong>introng>one) 1 trong>betatrong> subcomplex, 4, 15kDa
This gene encodes a non-catalytic subunit of the multisubunit NADH:ubiqutrong>introng>one oxidoreductase, the first enzyme complex trong>introng> the mitochondrial electron transport trong>chatrong>introng>trong> (complex I). Mammalian complex I is composed of 45 different subunits and transfers electrons from NADH to ubiqutrong>introng>one. [provided by RefSeq, Dec 2009]
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NADH dehydrogenase (ubiqutrong>introng>one) 1 trong>betatrong> subcomplex, 3, 12kDa
This gene encodes an accessory subunit of the mitochondrial membrane respiratory trong>chatrong>introng>trong> NADH dehydrogenase (Complex I) which is the first enzyme trong>introng> the electron transport trong>chatrong>introng>trong> of mitochondria. This protetrong>introng> localizes to the trong>introng>ner membrane of the mitochondrion as a strong>introng>gle-pass membrane protetrong>introng>. Mutations trong>introng> this gene contribute to mitochondrial complex 1 deficiency. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g the same protetrong>introng>. Humans have multiple pseudogenes of this gene. [provided by RefSeq, Mar 2012]
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NADH dehydrogenase (ubiqutrong>introng>one) 1 trong>betatrong> subcomplex, 2, 8kDa
The protetrong>introng> encoded by this gene is a subunit of the multisubunit NADH:ubiqutrong>introng>one oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. This protetrong>introng> has NADH dehydrogenase activity and oxidoreductase activity. It plays a important role trong>introng> transfertrong>introng>g electrons from NADH to the respiratory trong>chatrong>introng>trong>. The immediate electron acceptor for the enzyme is believed to be ubiqutrong>introng>one. Hydropathy analysis revealed that this subunit and 4 other subunits have an overall hydrophilic pattern, even though they are found withtrong>introng> the hydrophobic protetrong>introng> (HP) fraction of complex I. [provided by RefSeq, Jul 2008]
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NADH dehydrogenase (ubiqutrong>introng>one) 1 trong>betatrong> subcomplex, 1, 7kDa
Predicted to enable NADH dehydrogenase (ubiqutrong>introng>one) activity. trong>Introng>volved trong>introng> mitochondrial respiratory trong>chatrong>introng>trong> complex I assembly. Located trong>introng> mitochondrion and nuclear speck. Part of mitochondrial trong>introng>ner membrane and respiratory trong>chatrong>introng>trong> complex I. [provided by Alliance of Genome Resources, Mar 2025]
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protetrong>introng> geranylgeranyltransferase type I, trong>betatrong> subunit
Protetrong>introng> geranylgeranyltransferase type I (GGTase-I) transfers a geranylgeranyl group to the cystetrong>introng>e residue of candidate protetrong>introng>s contatrong>introng>trong>introng>g a C-termtrong>introng>al CAAX motif trong>introng> which 'A' is an aliphatic amtrong>introng>o acid and 'X' is leuctrong>introng>e (summarized by Zhang et al., 1994 [PubMed 8106351]). The enzyme is composed of a 48-kD alpha subunit (FNTA; MIM 134635) and a 43-kD trong>betatrong> subunit, encoded by the PGGT1B gene. The FNTA gene encodes the alpha subunit for both GGTase-I and the related enzyme farnesyltransferase.[supplied by OMIM, Mar 2010]
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trong>betatrong>-defenstrong>introng> 131-like
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putative trong>betatrong>-glucuronidase-like protetrong>introng> MGC156142
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prolyl 4-hydroxylase, trong>betatrong> polypeptide
This gene encodes the trong>betatrong> subunit of prolyl 4-hydroxylase, a highly abundant multifunctional enzyme that belongs to the protetrong>introng> disulfide isomerase family. When present as a tetramer consisttrong>introng>g of two alpha and two trong>betatrong> subunits, this enzyme is trong>introng>volved trong>introng> hydroxylation of prolyl residues trong>introng> preprocollagen. This enzyme is also a disulfide isomerase contatrong>introng>trong>introng>g two thioredoxtrong>introng> domatrong>introng>s that catalyze the formation, breakage and rearrangement of disulfide bonds. Other known functions trong>introng>clude its ability to act as a chaperone that trong>introng>hibits aggregation of misfolded protetrong>introng>s trong>introng> a concentration-dependent manner, its ability to btrong>introng>d thyroid hormone, its role trong>introng> both the trong>introng>flux and efflux of S-nitrosothiol-bound nitric oxide, and its function as a subunit of the microsomal triglyceride transfer protetrong>introng> complex. [provided by RefSeq, Jul 2008]
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defenstrong>introng>, trong>betatrong> 105A
Defenstrong>introng>s form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defenstrong>introng>s are short, processed peptide molecules that are classified by structure trong>introng>to three groups: alpha-defenstrong>introng>s, trong>betatrong>-defenstrong>introng>s and theta-defenstrong>introng>s. All trong>betatrong>-defenstrong>introng> genes are densely clustered trong>introng> four to five syntenic chromosomal regions. Chromosome 8p23 contatrong>introng>s at least two copies of the duplicated trong>betatrong>-defenstrong>introng> cluster. This duplication results trong>introng> two identical copies of defenstrong>introng>, trong>betatrong> 105, DEFB105A and DEFB105B, trong>introng> tail-to-tail orientation. This gene, DEFB105A, represents the more centromeric copy. [provided by RefSeq, Oct 2014]
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defenstrong>introng>, trong>betatrong> 105B
Defenstrong>introng>s form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defenstrong>introng>s are short, processed peptide molecules that are classified by structure trong>introng>to three groups: alpha-defenstrong>introng>s, trong>betatrong>-defenstrong>introng>s and theta-defenstrong>introng>s. All trong>betatrong>-defenstrong>introng> genes are densely clustered trong>introng> four to five syntenic chromosomal regions. Chromosome 8p23 contatrong>introng>s at least two copies of the duplicated trong>betatrong>-defenstrong>introng> cluster. This duplication results trong>introng> two identical copies of defenstrong>introng>, trong>betatrong> 105, DEFB105A and DEFB105B, trong>introng> tail-to-tail orientation. This gene, DEFB105B, represents the more telomeric copy. [provided by RefSeq, Oct 2014]
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DNA fragmentation factor, 40kDa, trong>betatrong> polypeptide pseudogene 1
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thymostrong>introng> trong>betatrong> 4, X-ltrong>introng>ked pseudogene 3
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protocadhertrong>introng> trong>betatrong> 19 pseudogene
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spectrtrong>introng>, trong>betatrong>, erythrocytic
This locus encodes a member of the spectrtrong>introng> gene family. Spectrtrong>introng> protetrong>introng>s, along with ankyrtrong>introng>, play a role trong>introng> cell membrane organization and stability. The protetrong>introng> encoded by this locus functions trong>introng> stability of erythrocyte membranes, and mutations trong>introng> this gene have been associated with spherocytosis type 2, hereditary elliptocytosis, and neonatal hemolytic anemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]
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gap junction protetrong>introng>, trong>betatrong> 7, 25kDa
Connextrong>introng>s, such as GJB7, are trong>introng>volved trong>introng> the formation of gap junctions, trong>introng>tercellular conduits that directly connect the cytoplasms of contacttrong>introng>g cells. Each gap junction channel is formed by docktrong>introng>g of 2 hemichannels, each of which contatrong>introng>s 6 connextrong>introng> subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008]
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proteasome (prosome, macropatrong>introng>) subunit, trong>betatrong> type, 5 pseudogene
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succtrong>introng>ate-CoA ligase, ADP-formtrong>introng>g, trong>betatrong> subunit pseudogene
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succtrong>introng>ate-CoA ligase, ADP-formtrong>introng>g, trong>betatrong> subunit pseudogene
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trong>introng>tegrtrong>introng> trong>betatrong> 1 btrong>introng>dtrong>introng>g protetrong>introng> 1
The cytoplasmic domatrong>introng>s of trong>introng>tegrtrong>introng>s are essential for cell adhesion. The protetrong>introng> encoded by this gene btrong>introng>ds to the trong>betatrong>1 trong>introng>tegrtrong>introng> cytoplasmic domatrong>introng>. The trong>introng>teraction between this protetrong>introng> and trong>betatrong>1 trong>introng>tegrtrong>introng> is highly specific. Two isoforms of this protetrong>introng> are derived from alternatively spliced transcripts. The shorter form of this protetrong>introng> does not trong>introng>teract with the trong>betatrong>1 trong>introng>tegrtrong>introng> cytoplasmic domatrong>introng>. The longer form is a phosphoprotetrong>introng> and the extent of its phosphorylation is regulated by the cell-matrix trong>introng>teraction, suggesttrong>introng>g an important role of this protetrong>introng> durtrong>introng>g trong>introng>tegrtrong>introng>-dependent cell adhesion. Several transcript variants, some protetrong>introng>-codtrong>introng>g and some non-protetrong>introng> codtrong>introng>g, have been found for this gene. [provided by RefSeq, Jan 2016]
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trong>introng>tegrtrong>introng> trong>betatrong> 1 btrong>introng>dtrong>introng>g protetrong>introng> (melustrong>introng>) 2
This gene encodes a protetrong>introng> with two cystetrong>introng>e and histidtrong>introng>e-rich (CHORD) domatrong>introng>s, PXXP motifs, YXXI/P motifs, putative SH2 and SH3 domatrong>introng> btrong>introng>dtrong>introng>g motifs, and an acidic region at the C-termtrong>introng>us that can btrong>introng>d calcium. Two hybrid analysis showed that this protetrong>introng> trong>introng>teracts with the cytoplasmic domatrong>introng> of the trong>betatrong> 1 trong>introng>tegrtrong>introng> subunit and is thought to act as a chaperone protetrong>introng>. Studies trong>introng> the mouse ortholog of this gene trong>introng>dicate that absence of this gene trong>introng> mouse results trong>introng> failed cardiac hypertrophy trong>introng> response to mechanical stress. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g different isoforms, trong>introng>cludtrong>introng>g an isoform that lacks several domatrong>introng>s, trong>introng>cludtrong>introng>g one of the CHORD domatrong>introng>s. [provided by RefSeq, May 2017]
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tubultrong>introng> trong>betatrong> 8 pseudogene 12
Predicted to enable GTP btrong>introng>dtrong>introng>g activity. Predicted to be a structural constituent of cytoskeleton. Predicted to be trong>introng>volved trong>introng> microtubule cytoskeleton organization and mitotic cell cycle. Located trong>introng> trong>introng>tercellular bridge; microtubule; and mitotic sptrong>introng>dle. [provided by Alliance of Genome Resources, Mar 2025]
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tubultrong>introng>, trong>betatrong> 8 class VIII pseudogene 11
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tubultrong>introng>, trong>betatrong> class I pseudogene 10
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heat shock protetrong>introng> 90kDa trong>betatrong> (Grp94), member 1
This gene encodes a member of a family of adenostrong>introng>e triphosphate(ATP)-metaboliztrong>introng>g molecular chaperones with roles trong>introng> stabiliztrong>introng>g and foldtrong>introng>g other protetrong>introng>s. The encoded protetrong>introng> is localized to melanosomes and the endoplasmic reticulum. Expression of this protetrong>introng> is associated with a variety of pathogenic states, trong>introng>cludtrong>introng>g tumor formation. There is a microRNA gene located withtrong>introng> the 5' exon of this gene. There are pseudogenes for this gene on chromosomes 1 and 15. [provided by RefSeq, Aug 2012]
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UDP-GlcNAc:trong>betatrong>Gal trong>betatrong>-1,3-N-acetylglucosamtrong>introng>yltransferase 4
This gene encodes a member of the trong>betatrong>-1,3-N-acetylglucosamtrong>introng>yltransferase protetrong>introng> family. The encoded enzyme is trong>introng>volved trong>introng> the biosynthesis of poly-N-acetyllactosamtrong>introng>e trong>chatrong>introng>trong>s and prefers lacto-N-neotetraose as a substrate. It is a type II transmembrane protetrong>introng>. [provided by RefSeq, Jul 2008]
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UDP-GlcNAc:trong>betatrong>Gal trong>betatrong>-1,3-N-acetylglucosamtrong>introng>yltransferase 5
This gene encodes a member of the trong>betatrong>-1,3-N-acetylglucosamtrong>introng>yltransferase family. This enzyme is a type II membrane protetrong>introng>. It exhibits strong activity to transfer GlcNAc to glycolipid substrates and is identified as the most likely candidate for lactotriaosylceramide synthase. This enzyme is essential for the expression of Lewis X epitopes on glycolipids. [provided by RefSeq, Jul 2008]
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UDP-GlcNAc:trong>betatrong>Gal trong>betatrong>-1,3-N-acetylglucosamtrong>introng>yltransferase 6
The protetrong>introng> encoded by this gene is a trong>betatrong>-1,3-N-acetylglucosamtrong>introng>yltransferase that adds an N-acetylglucosamtrong>introng>e moiety to N-acetylgalactosamtrong>introng>e-modified sertrong>introng>e or threontrong>introng>e. The encoded enzyme is responsible for creattrong>introng>g the core 3 structure of O-glycans, which are important components of muctrong>introng>-type glycoprotetrong>introng>s. [provided by RefSeq, Dec 2016]
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UDP-GlcNAc:trong>betatrong>Gal trong>betatrong>-1,3-N-acetylglucosamtrong>introng>yltransferase 7
Enables acetylglucosamtrong>introng>yltransferase activity. trong>Introng>volved trong>introng> keratan sulfate biosynthetic process. Predicted to be located trong>introng> Golgi apparatus and membrane. Predicted to be active trong>introng> Golgi membrane. [provided by Alliance of Genome Resources, Mar 2025]
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UDP-GlcNAc:trong>betatrong>Gal trong>betatrong>-1,3-N-acetylglucosamtrong>introng>yltransferase 2
This gene encodes a member of the trong>betatrong>-1,3-N-acetylglucosamtrong>introng>yltransferase family. This enzyme is a type II transmembrane protetrong>introng>. It prefers the substrate of lacto-N-neotetraose, and is trong>introng>volved trong>introng> the biosynthesis of poly-N-acetyllactosamtrong>introng>e trong>chatrong>introng>trong>s. Two transcript variants encodtrong>introng>g the same protetrong>introng> have been found for this gene. [provided by RefSeq, Jan 2016]
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UDP-GlcNAc:trong>betatrong>Gal trong>betatrong>-1,3-N-acetylglucosamtrong>introng>yltransferase 3
This gene encodes a member of the trong>betatrong>-1,3-N-acetylglucosamtrong>introng>yltransferase family. This enzyme is a type II transmembrane protetrong>introng> and contatrong>introng>s a signal anchor that is not cleaved. It prefers the substrates of lacto-N-tetraose and lacto-N-neotetraose, and is trong>introng>volved trong>introng> the biosynthesis of poly-N-acetyllactosamtrong>introng>e trong>chatrong>introng>trong>s and the biosynthesis of the backbone structure of dimeric sialyl Lewis a. It plays domtrong>introng>ant roles trong>introng> L-selecttrong>introng> ligand biosynthesis, lymphocyte homtrong>introng>g and lymphocyte trafficktrong>introng>g. [provided by RefSeq, Jul 2008]
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liprtrong>introng>-trong>betatrong>-1-like
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UDP-GlcNAc:trong>betatrong>Gal trong>betatrong>-1,3-N-acetylglucosamtrong>introng>yltransferase 8
Enables protetrong>introng> N-acetylglucosamtrong>introng>yltransferase activity. trong>Introng>volved trong>introng> poly-N-acetyllactosamtrong>introng>e biosynthetic process. Located trong>introng> extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]
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UDP-GlcNAc:trong>betatrong>Gal trong>betatrong>-1,3-N-acetylglucosamtrong>introng>yltransferase 9
Predicted to enable UDP-glycosyltransferase activity. Predicted to be trong>introng>volved trong>introng> poly-N-acetyllactosamtrong>introng>e biosynthetic process and protetrong>introng> O-ltrong>introng>ked glycosylation. Predicted to be located trong>introng> Golgi apparatus and membrane. Predicted to be active trong>introng> Golgi membrane. [provided by Alliance of Genome Resources, Mar 2025]
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major histocompatibility complex, class II, DR trong>betatrong> 8 (pseudogene)
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major histocompatibility complex, class II, DR trong>betatrong> 9 (pseudogene)
Predicted to be trong>introng>volved trong>introng> antigen processtrong>introng>g and presentation and immune response. Predicted to be located trong>introng> membrane. Predicted to be part of MHC class II protetrong>introng> complex. [provided by Alliance of Genome Resources, Mar 2025]
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major histocompatibility complex, class II, DR trong>betatrong> 2 (pseudogene)
Predicted to be trong>introng>volved trong>introng> adaptive immune response and antigen processtrong>introng>g and presentation of peptide or polysaccharide antigen via MHC class II. Predicted to be located trong>introng> endosome membrane and lysosomal membrane. Predicted to be part of MHC class II protetrong>introng> complex. [provided by Alliance of Genome Resources, Mar 2025]
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major histocompatibility complex, class II, DR trong>betatrong> 3
HLA-DRB3 belongs to the HLA class II trong>betatrong> trong>chatrong>introng>trong> paralogues. This class II molecule is a heterodimer consisttrong>introng>g of an alpha (DRA) and a trong>betatrong> (DRB) trong>chatrong>introng>trong>, both anchored trong>introng> the membrane. It plays a central role trong>introng> the immune system by presenttrong>introng>g peptides derived from extracellular protetrong>introng>s. Class II molecules are expressed trong>introng> antigen presenttrong>introng>g cells. The trong>betatrong> trong>chatrong>introng>trong> is approximately 26-28 kDa and its gene contatrong>introng>s 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domatrong>introng>s, exon 4 encodes the transmembrane domatrong>introng> and exon 5 encodes the cytoplasmic tail. Withtrong>introng> the DR molecule the trong>betatrong> trong>chatrong>introng>trong> contatrong>introng>s all the polymorphisms specifytrong>introng>g the peptide btrong>introng>dtrong>introng>g specificities. Typtrong>introng>g for these polymorphisms is routtrong>introng>ely done for bone marrow and kidney transplantation. There are multiple pseudogenes of this gene. [provided by RefSeq, Feb 2020]
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major histocompatibility complex, class II, DR trong>betatrong> 1
HLA-DRB1 belongs to the HLA class II trong>betatrong> trong>chatrong>introng>trong> paralogs. The class II molecule is a heterodimer consisttrong>introng>g of an alpha (DRA) and a trong>betatrong> trong>chatrong>introng>trong> (DRB), both anchored trong>introng> the membrane. It plays a central role trong>introng> the immune system by presenttrong>introng>g peptides derived from extracellular protetrong>introng>s. Class II molecules are expressed trong>introng> antigen presenttrong>introng>g cells. The trong>betatrong> trong>chatrong>introng>trong> is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domatrong>introng>s; exon 4 encodes the transmembrane domatrong>introng>; and exon 5 encodes the cytoplasmic tail. Withtrong>introng> the DR molecule the trong>betatrong> trong>chatrong>introng>trong> contatrong>introng>s all the polymorphisms specifytrong>introng>g the peptide btrong>introng>dtrong>introng>g specificities. Hundreds of DRB1 alleles have been described and some alleles have trong>introng>creased frequencies associated with certatrong>introng> diseases or conditions. For example, DRB1*1302 has been related to acute and chronic hepatitis B virus persistence. There are multiple pseudogenes of this gene. [provided by RefSeq, Jul 2020]
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major histocompatibility complex, class II, DR trong>betatrong> 6 (pseudogene)
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major histocompatibility complex, class II, DR trong>betatrong> 7 (pseudogene)
Predicted to be trong>introng>volved trong>introng> antigen processtrong>introng>g and presentation and immune response. Predicted to be located trong>introng> membrane. Predicted to be part of MHC class II protetrong>introng> complex. [provided by Alliance of Genome Resources, Mar 2025]
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major histocompatibility complex, class II, DR trong>betatrong> 4
HLA-DRB4 belongs to the HLA class II trong>betatrong> trong>chatrong>introng>trong> paralogues. This class II molecule is a heterodimer consisttrong>introng>g of an alpha (DRA) and a trong>betatrong> (DRB) trong>chatrong>introng>trong>, both anchored trong>introng> the membrane. It plays a central role trong>introng> the immune system by presenttrong>introng>g peptides derived from extracellular protetrong>introng>s. Class II molecules are expressed trong>introng> antigen presenttrong>introng>g cells. The trong>betatrong> trong>chatrong>introng>trong> is approximately 26-28 kDa and its gene contatrong>introng>s 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domatrong>introng>s, exon 4 encodes the transmembrane domatrong>introng> and exon 5 encodes the cytoplasmic tail. Withtrong>introng> the DR molecule the trong>betatrong> trong>chatrong>introng>trong> contatrong>introng>s all the polymorphisms specifytrong>introng>g the peptide btrong>introng>dtrong>introng>g specificities. Typtrong>introng>g for these polymorphisms is routtrong>introng>ely done for bone marrow and kidney transplantation. There are multiple pseudogenes of this gene. [provided by RefSeq, Feb 2020]
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major histocompatibility complex, class II, DR trong>betatrong> 5
HLA-DRB5 belongs to the HLA class II trong>betatrong> trong>chatrong>introng>trong> paralogues. This class II molecule is a heterodimer consisttrong>introng>g of an alpha (DRA) and a trong>betatrong> (DRB) trong>chatrong>introng>trong>, both anchored trong>introng> the membrane. It plays a central role trong>introng> the immune system by presenttrong>introng>g peptides derived from extracellular protetrong>introng>s. Class II molecules are expressed trong>introng> antigen presenttrong>introng>g cells. The trong>betatrong> trong>chatrong>introng>trong> is approximately 26-28 kDa and its gene contatrong>introng>s 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domatrong>introng>s, exon 4 encodes the transmembrane domatrong>introng> and exon 5 encodes the cytoplasmic tail. Withtrong>introng> the DR molecule the trong>betatrong> trong>chatrong>introng>trong> contatrong>introng>s all the polymorphisms specifytrong>introng>g the peptide btrong>introng>dtrong>introng>g specificities. Typtrong>introng>g for these polymorphisms is routtrong>introng>ely done for bone marrow and kidney transplantation. There are multiple pseudogenes of this gene. [provided by RefSeq, Feb 2020]
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alpha/trong>betatrong> hydrolase domatrong>introng>-contatrong>introng>trong>introng>g protetrong>introng> 17A-like
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proteasome (prosome, macropatrong>introng>) subunit, trong>betatrong> type, 1 pseudogene
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trong>introng>tegrtrong>introng> trong>betatrong> 3 btrong>introng>dtrong>introng>g protetrong>introng> (trong>betatrong>3-endonextrong>introng>)
This gene encodes a transcriptional coregulator that btrong>introng>ds to and enhances the activity of members of the nuclear trong>receptortrong> families, thyroid hormone trong>receptortrong>s and rettrong>introng>oid X trong>receptortrong>s. This protetrong>introng> also acts as a corepressor of NF-kappaB-dependent signaltrong>introng>g. This protetrong>introng> trong>introng>duces apoptosis trong>introng> breast cancer cells through a caspase 2-mediated signaltrong>introng>g pathway. This protetrong>introng> is also a component of the centromere-specific histone H3 variant nucleosome associated complex (CENP-NAC) and may be trong>introng>volved trong>introng> mitotic progression by recruittrong>introng>g the histone H3 variant CENP-A to the centromere. Alternate splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Sep 2011]
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endo-trong>betatrong>-N-acetylglucosamtrong>introng>idase
This gene encodes a cytosolic enzyme which catalyzes the hydrolysis of peptides and protetrong>introng>s with mannose modifications to produce free oligosaccharides. [provided by RefSeq, Feb 2012]
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hemoglobtrong>introng>, trong>betatrong>
The alpha (HBA) and trong>betatrong> (HBB) loci determtrong>introng>e the structure of the 2 types of polypeptide trong>chatrong>introng>trong>s trong>introng> adult hemoglobtrong>introng>, Hb A. The normal adult hemoglobtrong>introng> tetramer consists of two alpha trong>chatrong>introng>trong>s and two trong>betatrong> trong>chatrong>introng>trong>s. Mutant trong>betatrong> globtrong>introng> causes sickle cell anemia. Absence of trong>betatrong> trong>chatrong>introng>trong> causes trong>betatrong>-zero-thalassemia. Reduced amounts of detectable trong>betatrong> globtrong>introng> causes trong>betatrong>-plus-thalassemia. The order of the genes trong>introng> the trong>betatrong>-globtrong>introng> cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- trong>betatrong>--3'. [provided by RefSeq, Jul 2008]
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N-ethylmaleimide-sensitive factor attachment protetrong>introng>, trong>betatrong>
This gene encodes a member of the soluble N-ethyl-maleimide-sensitive fusion attachment protetrong>introng> (SNAP) family. SNAP protetrong>introng>s play a critical role trong>introng> the docktrong>introng>g and fusion of vesicles to target membranes as part of the 20S NSF-SNAP-SNARE complex. This gene encodes the SNAP trong>betatrong> isoform which has been shown to be preferentially expressed trong>introng> bratrong>introng> tissue. The encoded protetrong>introng> also trong>introng>teracts with the GluR2 α-amtrong>introng>o-3-hydroxy-5-methyl-4-isoxazolepropionate (AMPA) trong>receptortrong> subunit C-termtrong>introng>us and may play a role as a chaperone trong>introng> the molecular processtrong>introng>g of the AMPA trong>receptortrong>. [provided by RefSeq, Mar 2017]
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protetrong>introng> geranylgeranyltransferase type I, trong>betatrong> subunit pseudogene 2
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small glutamtrong>introng>e-rich tetratricopeptide repeat (TPR)-contatrong>introng>trong>introng>g, trong>betatrong>
Predicted to enable molecular adaptor activity. Predicted to be trong>introng>volved trong>introng> post-translational protetrong>introng> targettrong>introng>g to endoplasmic reticulum membrane. Predicted to be part of TRC complex. Predicted to be active trong>introng> membrane. [provided by Alliance of Genome Resources, Mar 2025]
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dystrobrevtrong>introng>, trong>betatrong>
This gene encodes dystrobrevtrong>introng> trong>betatrong>, a component of the dystrophtrong>introng>-associated protetrong>introng> complex (DPC). The DPC consists of dystrophtrong>introng> and several trong>introng>tegral and peripheral membrane protetrong>introng>s, trong>introng>cludtrong>introng>g dystroglycans, sarcoglycans, syntrophtrong>introng>s and dystrobrevtrong>introng> alpha and trong>betatrong>. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Dystrobrevtrong>introng> trong>betatrong> is thought to trong>introng>teract with syntrophtrong>introng> and the DP71 short form of dystrophtrong>introng>. [provided by RefSeq, Mar 2016]
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lactamase, trong>betatrong>-like 1
Predicted to be located trong>introng> membrane. [provided by Alliance of Genome Resources, Mar 2025]
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potassium channel, voltage gated subfamily E regulatory trong>betatrong> subunit 2
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpotrong>introng>ts. Their diverse functions trong>introng>clude regulattrong>introng>g neurotransmitter release, heart rate, trong>introng>sultrong>introng> secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a small trong>introng>tegral membrane subunit that assembles with the KCNH2 gene product, a pore-formtrong>introng>g protetrong>introng>, to alter its function. This gene is expressed trong>introng> heart and muscle and the gene mutations are associated with cardiac arrhythmia. [provided by RefSeq, Jul 2008]
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potassium channel, voltage gated subfamily E regulatory trong>betatrong> subunit 3
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpotrong>introng>ts. Their diverse functions trong>introng>clude regulattrong>introng>g neurotransmitter release, heart rate, trong>introng>sultrong>introng> secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a type I membrane protetrong>introng>, and a trong>betatrong> subunit that assembles with a potassium channel alpha-subunit to modulate the gattrong>introng>g ktrong>introng>etics and enhance stability of the multimeric complex. This gene is promtrong>introng>ently expressed trong>introng> the kidney. A missense mutation trong>introng> this gene is associated with hypokalemic periodic paralysis. [provided by RefSeq, Jul 2008]
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potassium channel, voltage gated subfamily E regulatory trong>betatrong> subunit 1
The product of this gene belongs to the potassium channel KCNE family. Potassium ion channels are essential to many cellular functions and show a high degree of diversity, varytrong>introng>g trong>introng> their electrophysiologic and pharmacologic properties. This gene encodes a transmembrane protetrong>introng> known to associate with the product of the KVLQT1 gene to form the delayed rectifier potassium channel. Mutation trong>introng> this gene are associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome. Alternatively spliced transcript variants encodtrong>introng>g the same protetrong>introng> have been identified. [provided by RefSeq, Jul 2008]
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potassium channel, voltage gated subfamily E regulatory trong>betatrong> subunit 4
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpotrong>introng>ts. Their diverse functions trong>introng>clude regulattrong>introng>g neurotransmitter release, heart rate, trong>introng>sultrong>introng> secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a type I membrane protetrong>introng>, and a trong>betatrong> subunit that assembles with a potassium channel alpha-subunit to modulate the gattrong>introng>g ktrong>introng>etics and enhance stability of the multimeric complex. This gene is promtrong>introng>ently expressed trong>introng> the embryo and trong>introng> adult uterus. [provided by RefSeq, Jul 2008]
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potassium channel, voltage gated subfamily E regulatory trong>betatrong> subunit 5
This gene encodes a member of a family of strong>introng>gle pass transmembrane domatrong>introng> protetrong>introng>s that function as ancillary subunits to voltage-gated potassium channels. Members of this family affect diverse processes trong>introng> potassium channel regulation, trong>introng>cludtrong>introng>g ion selectivity, voltage dependence, and anterograde recycltrong>introng>g from the plasma membrane. Variants of this gene are associated with idiopathic ventricular fibrillation and Brugada syndrome. [provided by RefSeq, Nov 2016]
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alpha-1,3-mannosyl-glycoprotetrong>introng> 4-trong>betatrong>-N-acetylglucosamtrong>introng>yltransferase-like protetrong>introng> LOC641515 homolog
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succtrong>introng>ate-CoA ligase, ADP-formtrong>introng>g, trong>betatrong> subunit pseudogene
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protetrong>introng> phosphatase 2, regulatory subunit B'', trong>betatrong>
Protetrong>introng> phosphatase 2 (formerly named type 2A) is one of the four major Ser/Thr phosphatases and is implicated trong>introng> the negative control of cell growth and division. Protetrong>introng> phosphatase 2 holoenzymes are heterotrimeric protetrong>introng>s composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped trong>introng>to the B/PR55, B'/PR61, and B''/PR72 families. These different regulatory subunits confer disttrong>introng>ct enzymatic specificities and trong>introng>tracellular localizations to the holozenzyme. The product of this gene belongs to the B'' family. The B'' family has been further divided trong>introng>to subfamilies. The product of this gene belongs to the trong>betatrong> subfamily of regulatory subunit B''. [provided by RefSeq, Apr 2010]
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ST6 (alpha-N-acetyl-neuramtrong>introng>yl-2,3-trong>betatrong>-galactosyl-1,3)-N-acetylgalactosamtrong>introng>ide alpha-2,6-sialyltransferase 2 pseudogene 1
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glycoprotetrong>introng> hormone trong>betatrong> 5
GPHB5 is a cysttrong>introng>e knot-formtrong>introng>g polypeptide and a subunit of the dimeric glycoprotetrong>introng> hormone family (Hsu et al., 2002 [PubMed 12089349]).[supplied by OMIM, Mar 2008]
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tropomyostrong>introng> 2 (trong>betatrong>)
This gene encodes trong>betatrong>-tropomyostrong>introng>, a member of the acttrong>introng> filament btrong>introng>dtrong>introng>g protetrong>introng> family, and matrong>introng>ly expressed trong>introng> slow, type 1 muscle fibers. Mutations trong>introng> this gene can alter the expression of other sarcomeric tropomyostrong>introng> protetrong>introng>s, and cause cap disease, nemaltrong>introng>e myopathy and distal arthrogryposis syndromes. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]
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electron-transfer-flavoprotetrong>introng>, trong>betatrong> polypeptide
This gene encodes electron-transfer-flavoprotetrong>introng>, trong>betatrong> polypeptide, which shuttles electrons between primary flavoprotetrong>introng> dehydrogenases trong>introng>volved trong>introng> mitochondrial fatty acid and amtrong>introng>o acid catabolism and the membrane-bound electron transfer flavoprotetrong>introng> ubiqutrong>introng>one oxidoreductase. The gene deficiencies have been implicated trong>introng> type II glutaricaciduria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
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glucosidase, trong>betatrong>, acid
This gene encodes a lysosomal membrane protetrong>introng> that cleaves the trong>betatrong>-glucosidic ltrong>introng>kage of glycosylceramide, an trong>introng>termediate trong>introng> glycolipid metabolism. Mutations trong>introng> this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jan 2010]
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glia maturation factor, trong>betatrong>
Predicted to enable Arp2/3 complex btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> acttrong>introng> filament debranchtrong>introng>g and negative regulation of Arp2/3 complex-mediated acttrong>introng> nucleation. Predicted to act upstream of or withtrong>introng> learntrong>introng>g and locomotory behavior. Predicted to be active trong>introng> cortical acttrong>introng> cytoskeleton. [provided by Alliance of Genome Resources, Mar 2025]
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protetrong>introng> ktrong>introng>ase, cAMP-dependent, regulatory, type II, trong>betatrong> pseudogene
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ore 1 synthase, glycoprotetrong>introng>-N-acetylgalactosamtrong>introng>e 3-trong>betatrong>-galactosyltransferase 1 pseudogene 2
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calcium channel, voltage-dependent, trong>betatrong> 3 subunit
This gene encodes a regulatory trong>betatrong> subunit of the voltage-dependent calcium channel. trong>Betatrong> subunits are composed of five domatrong>introng>s, which contribute to the regulation of surface expression and gattrong>introng>g of calcium channels and may also play a role trong>introng> the regulation of transcription factors and calcium transport. [provided by RefSeq, Oct 2011]
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calcium channel, voltage-dependent, trong>betatrong> 2 subunit
This gene encodes a subunit of a voltage-dependent calcium channel protetrong>introng> that is a member of the voltage-gated calcium channel superfamily. The gene product was origtrong>introng>ally identified as an antigen target trong>introng> Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations trong>introng> this gene are associated with Brugada syndrome. Alternatively spliced variants encodtrong>introng>g different isoforms have been described. [provided by RefSeq, Feb 2013]
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calcium channel, voltage-dependent, trong>betatrong> 1 subunit
The protetrong>introng> encoded by this gene belongs to the calcium channel trong>betatrong> subunit family. It plays an important role trong>introng> the calcium channel by modulattrong>introng>g G protetrong>introng> trong>introng>hibition, trong>introng>creastrong>introng>g peak calcium current, controlltrong>introng>g the alpha-1 subunit membrane targettrong>introng>g and shifttrong>introng>g the voltage dependence of activation and trong>introng>activation. Alternative splictrong>introng>g occurs at this locus and three transcript variants encodtrong>introng>g three disttrong>introng>ct isoforms have been identified. [provided by RefSeq, Jul 2008]
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calcium channel, voltage-dependent, trong>betatrong> 4 subunit
This gene encodes a member of the trong>betatrong> subunit family of voltage-dependent calcium channel complex protetrong>introng>s. Calcium channels mediate the trong>introng>flux of calcium ions trong>introng>to the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, trong>betatrong>, and gamma subunits trong>introng> a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splictrong>introng>g. The protetrong>introng> encoded by this locus plays an important role trong>introng> calcium channel function by modulattrong>introng>g G protetrong>introng> trong>introng>hibition, trong>introng>creastrong>introng>g peak calcium current, controlltrong>introng>g the alpha-1 subunit membrane targettrong>introng>g and shifttrong>introng>g the voltage dependence of activation and trong>introng>activation. Certatrong>introng> mutations trong>introng> this gene have been associated with idiopathic generalized epilepsy (IGE), juvenile myoclonic epilepsy (JME), and episodic ataxia, type 5. [provided by RefSeq, Aug 2016]
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trong>betatrong>-1,3-N-acetylgalactosamtrong>introng>yltransferase 2
This gene encodes a member of the glycosyltransferase 31 family. The encoded protetrong>introng> synthesizes GalNAc:trong>betatrong>-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2013]
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trong>betatrong>-1,3-N-acetylgalactosamtrong>introng>yltransferase 1 (globoside blood group)
This gene is a member of the trong>betatrong>-1,3-galactosyltransferase (trong>betatrong>3GalT) gene family. This family encodes type II membrane-bound glycoprotetrong>introng>s with diverse enzymatic functions ustrong>introng>g different donor substrates (UDP-galactose and UDP-N-acetylglucosamtrong>introng>e) and different acceptor sugars (N-acetylglucosamtrong>introng>e, galactose, N-acetylgalactosamtrong>introng>e). The trong>betatrong>3GalT genes are distantly related to the Drosophila Bratrong>introng>iac gene and have the protetrong>introng> codtrong>introng>g sequence contatrong>introng>ed trong>introng> a strong>introng>gle exon. The trong>betatrong>3GalT protetrong>introng>s also contatrong>introng> conserved sequences not found trong>introng> the trong>betatrong>4GalT or alpha3GalT protetrong>introng>s. The carbohydrate trong>chatrong>introng>trong>s synthesized by these enzymes are designated as type 1, whereas trong>betatrong>4GalT enzymes synthesize type 2 carbohydrate trong>chatrong>introng>trong>s. The ratio of type 1:type 2 trong>chatrong>introng>trong>s changes durtrong>introng>g embryogenesis. By sequence similarity, the trong>betatrong>3GalT genes fall trong>introng>to at least two groups: trong>betatrong>3GalT4 and 4 other trong>betatrong>3GalT genes (trong>betatrong>3GalT1-3, trong>betatrong>3GalT5). The encoded protetrong>introng> of this gene does not use N-acetylglucosamtrong>introng>e as an acceptor sugar at all. [provided by RefSeq, Mar 2017]
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NADH dehydrogenase (ubiqutrong>introng>one) 1 trong>betatrong> subcomplex, 3, 12kDa pseudogene 2
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NADH dehydrogenase (ubiqutrong>introng>one) 1 trong>betatrong> subcomplex, 3, 12kDa pseudogene 3
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NADH dehydrogenase (ubiqutrong>introng>one) 1 trong>betatrong> subcomplex, 3, 12kDa pseudogene 1
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NADH dehydrogenase (ubiqutrong>introng>one) 1 trong>betatrong> subcomplex, 3, 12kDa pseudogene 4
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defenstrong>introng>, trong>betatrong> 124
Defenstrong>introng>s are cystetrong>introng>e-rich cationic polypeptides that are important trong>introng> the host immunologic response to trong>introng>vadtrong>introng>g microorganisms. This antimicrobial protetrong>introng> is secreted and is a member of the trong>betatrong> defenstrong>introng> protetrong>introng> family. trong>Betatrong> defenstrong>introng> genes are found trong>introng> several clusters throughout the genome, with this gene mapptrong>introng>g to a cluster at 20q11.1. The encoded protetrong>introng> may serve to enhance trong>introng>nate immunity trong>introng> the prostate. [provided by RefSeq, Nov 2014]
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defenstrong>introng>, trong>betatrong> 121
This gene encodes a member of the trong>betatrong> subfamily of defenstrong>introng>s. trong>Betatrong>-defenstrong>introng>s are antimicrobial peptides that protect tissues and organs from trong>introng>fection by a variety of microorganisms. This gene is found trong>introng> a cluster with other trong>betatrong>-defenstrong>introng> genes on the long arm of chromosome 20. Two transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]
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trong>betatrong> 1,3-galactosyltransferase-like
The protetrong>introng> encoded by this gene is a trong>betatrong>-1,3-glucosyltransferase that transfers glucose to O-ltrong>introng>ked fucosylglycans on thrombospondtrong>introng> type-1 repeats (TSRs) of several protetrong>introng>s. The encoded protetrong>introng> is a type II membrane protetrong>introng>. Defects trong>introng> this gene are a cause of Peters-plus syndrome (PPS).[provided by RefSeq, Mar 2009]
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UDP-Gal:trong>betatrong>GlcNAc trong>betatrong> 1,3-galactosyltransferase, polypeptide 4
This gene is a member of the trong>betatrong>-1,3-galactosyltransferase (trong>betatrong>3GalT) gene family. This family encodes type II membrane-bound glycoprotetrong>introng>s with diverse enzymatic functions ustrong>introng>g different donor substrates (UDP-galactose and UDP-N-acetylglucosamtrong>introng>e) and different acceptor sugars (N-acetylglucosamtrong>introng>e, galactose, N-acetylgalactosamtrong>introng>e). The trong>betatrong>3GalT genes are distantly related to the Drosophila Bratrong>introng>iac gene and have the protetrong>introng> codtrong>introng>g sequence contatrong>introng>ed trong>introng> a strong>introng>gle exon. The trong>betatrong>3GalT protetrong>introng>s also contatrong>introng> conserved sequences not found trong>introng> the trong>betatrong>4GalT or alpha3GalT protetrong>introng>s. The carbohydrate trong>chatrong>introng>trong>s synthesized by these enzymes are designated as type 1, whereas trong>betatrong>4GalT enzymes synthesize type 2 carbohydrate trong>chatrong>introng>trong>s. The ratio of type 1:type 2 trong>chatrong>introng>trong>s changes durtrong>introng>g embryogenesis. By sequence similarity, the trong>betatrong>3GalT genes fall trong>introng>to at least two groups: trong>betatrong>3GalT4 and 4 other trong>betatrong>3GalT genes (trong>betatrong>3GalT1-3, trong>betatrong>3GalT5). This gene is oriented telomere to centromere trong>introng> close proximity to the ribosomal protetrong>introng> S18 gene. The functionality of the encoded protetrong>introng> is limited to ganglioseries glycolipid biosynthesis. [provided by RefSeq, Jul 2008]
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UDP-Gal:trong>betatrong>GlcNAc trong>betatrong> 1,3-galactosyltransferase, polypeptide 5
This gene encodes a member of a family of membrane-bound glycoprotetrong>introng>s. The encoded protetrong>introng> may synthesize type 1 Lewis antigens, which are elevated trong>introng> gastrotrong>introng>testtrong>introng>al and pancreatic cancers. Alternatively spliced transcript variants ustrong>introng>g multiple alternate promoters have been observed for this gene. [provided by RefSeq, Sep 2017]
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UDP-Gal:trong>betatrong>Gal trong>betatrong> 1,3-galactosyltransferase polypeptide 6
The enzyme encoded by this trong>introng>tronless gene is a trong>betatrong>-1,3-galactosyltransferase found trong>introng> the medial Golgi apparatus, where it catalyzes the transfer of galactose from UDP-galactose to substrates contatrong>introng>trong>introng>g a termtrong>introng>al trong>betatrong>-ltrong>introng>ked galactose moiety. The encoded enzyme has a particular afftrong>introng>ity for galactose-trong>betatrong>-1,4-xylose found trong>introng> the ltrong>introng>ker region of glycosamtrong>introng>es. This enzyme is required for glycosamtrong>introng>oglycan synthesis. [provided by RefSeq, Jun 2013]
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UDP-Gal:trong>betatrong>GlcNAc trong>betatrong> 1,3-galactosyltransferase, polypeptide 1
This gene is a member of the trong>betatrong>-1,3-galactosyltransferase (trong>betatrong>3GalT) gene family. This family encodes type II membrane-bound glycoprotetrong>introng>s with diverse enzymatic functions ustrong>introng>g different donor substrates (UDP-galactose and UDP-N-acetylglucosamtrong>introng>e) and different acceptor sugars (N-acetylglucosamtrong>introng>e, galactose, N-acetylgalactosamtrong>introng>e). The trong>betatrong>3GalT genes are distantly related to the Drosophila Bratrong>introng>iac gene and have the protetrong>introng> codtrong>introng>g sequence contatrong>introng>ed trong>introng> a strong>introng>gle exon. The trong>betatrong>3GalT protetrong>introng>s also contatrong>introng> conserved sequences not found trong>introng> the trong>betatrong>4GalT or alpha3GalT protetrong>introng>s. The carbohydrate trong>chatrong>introng>trong>s synthesized by these enzymes are designated as type 1, whereas trong>betatrong>4GalT enzymes synthesize type 2 carbohydrate trong>chatrong>introng>trong>s. The ratio of type 1:type 2 trong>chatrong>introng>trong>s changes durtrong>introng>g embryogenesis. By sequence similarity, the trong>betatrong>3GalT genes fall trong>introng>to at least two groups: trong>betatrong>3GalT4 and 4 other trong>betatrong>3GalT genes (trong>betatrong>3GalT1-3, trong>betatrong>3GalT5). This gene is expressed exclusively trong>introng> the bratrong>introng>. The encoded protetrong>introng> shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq, Jul 2008]
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UDP-Gal:trong>betatrong>GlcNAc trong>betatrong> 1,3-galactosyltransferase, polypeptide 2
This gene is a member of the trong>betatrong>-1,3-galactosyltransferase (trong>betatrong>3GalT) gene family. This family encodes type II membrane-bound glycoprotetrong>introng>s with diverse enzymatic functions ustrong>introng>g different donor substrates (UDP-galactose and UDP-N-acetylglucosamtrong>introng>e) and different acceptor sugars (N-acetylglucosamtrong>introng>e, galactose, N-acetylgalactosamtrong>introng>e). The trong>betatrong>3GalT genes are distantly related to the Drosophila Bratrong>introng>iac gene and have the protetrong>introng> codtrong>introng>g sequence contatrong>introng>ed trong>introng> a strong>introng>gle exon. The trong>betatrong>3GalT protetrong>introng>s also contatrong>introng> conserved sequences not found trong>introng> the trong>betatrong>4GalT or alpha3GalT protetrong>introng>s. The carbohydrate trong>chatrong>introng>trong>s synthesized by these enzymes are designated as type 1, whereas trong>betatrong>4GalT enzymes synthesize type 2 carbohydrate trong>chatrong>introng>trong>s. The ratio of type 1:type 2 trong>chatrong>introng>trong>s changes durtrong>introng>g embryogenesis. By sequence similarity, the trong>betatrong>3GalT genes fall trong>introng>to at least two groups: trong>betatrong>3GalT4 and 4 other trong>betatrong>3GalT genes (trong>betatrong>3GalT1-3, trong>betatrong>3GalT5). This gene encodes a protetrong>introng> that functions trong>introng> N-ltrong>introng>ked glycoprotetrong>introng> glycosylation and shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq, Jul 2008]
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transformer 2 trong>betatrong> homolog (Drosophila)
This gene encodes a nuclear protetrong>introng> which functions as sequence-specific sertrong>introng>e/argtrong>introng>trong>introng>e splictrong>introng>g factor which plays a role trong>introng> mRNA processtrong>introng>g, splictrong>introng>g patterns, and gene expression. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Aug 2011]
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LFNG O-fucosylpeptide 3-trong>betatrong>-N-acetylglucosamtrong>introng>yltransferase
This gene is a member of the glycosyltransferase 31 gene family. Members of this gene family, which also trong>introng>cludes the MFNG (GeneID: 4242) and RFNG (GeneID: 5986) genes, encode evolutionarily conserved glycosyltransferases that act trong>introng> the Notch signaltrong>introng>g pathway to deftrong>introng>e boundaries durtrong>introng>g embryonic development. While their genomic structure is disttrong>introng>ct from other glycosyltransferases, these protetrong>introng>s have a fucose-specific trong>betatrong>-1,3-N-acetylglucosamtrong>introng>yltransferase activity that leads to elongation of O-ltrong>introng>ked fucose residues on Notch, which alters Notch signaltrong>introng>g. The protetrong>introng> encoded by this gene is predicted to be a strong>introng>gle-pass type II Golgi membrane protetrong>introng> but it may also be secreted and proteolytically processed like the related protetrong>introng>s trong>introng> mouse and Drosophila (PMID: 9187150). Mutations trong>introng> this gene have been associated with autosomal recessive spondylocostal dysostosis 3. [provided by RefSeq, May 2018]
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defenstrong>introng>, trong>betatrong> 106A
Defenstrong>introng>s form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defenstrong>introng>s are short, processed peptide molecules that are classified by structure trong>introng>to three groups: alpha-defenstrong>introng>s, trong>betatrong>-defenstrong>introng>s and theta-defenstrong>introng>s. All trong>betatrong>-defenstrong>introng> genes are densely clustered trong>introng> four to five syntenic chromosomal regions. Chromosome 8p23 contatrong>introng>s at least two copies of the duplicated trong>betatrong>-defenstrong>introng> cluster. This duplication results trong>introng> two identical copies of defenstrong>introng>, trong>betatrong> 106, DEFB106A and DEFB106B, trong>introng> head-to-head orientation. This gene, DEFB106A, represents the more centromeric copy. [provided by RefSeq, Oct 2014]
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defenstrong>introng>, trong>betatrong> 106B
Defenstrong>introng>s form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defenstrong>introng>s are short, processed peptide molecules that are classified by structure trong>introng>to three groups: alpha-defenstrong>introng>s, trong>betatrong>-defenstrong>introng>s and theta-defenstrong>introng>s. All trong>betatrong>-defenstrong>introng> genes are densely clustered trong>introng> four to five syntenic chromosomal regions. Chromosome 8p23 contatrong>introng>s at least two copies of the duplicated trong>betatrong>-defenstrong>introng> cluster. This duplication results trong>introng> two identical copies of defenstrong>introng>, trong>betatrong> 106, DEFB106A and DEFB106B, trong>introng> head-to-head orientation. This gene, DEFB106B, represents the more telomeric copy. [provided by RefSeq, Oct 2014]
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acttrong>introng>, trong>betatrong>-like 2
Predicted to enable protetrong>introng> ktrong>introng>ase btrong>introng>dtrong>introng>g activity. Predicted to be a structural constituent of postsynaptic acttrong>introng> cytoskeleton. Predicted to be trong>introng>volved trong>introng> axonogenesis and cell motility. Located trong>introng> extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]
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hexosamtrong>introng>idase B (trong>betatrong> polypeptide)
Hexosamtrong>introng>idase B is the trong>betatrong> subunit of the lysosomal enzyme trong>betatrong>-hexosamtrong>introng>idase that, together with the cofactor GM2 activator protetrong>introng>, catalyzes the degradation of the ganglioside GM2, and other molecules contatrong>introng>trong>introng>g termtrong>introng>al N-acetyl hexosamtrong>introng>es. trong>Betatrong>-hexosamtrong>introng>idase is composed of two subunits, alpha and trong>betatrong>, which are encoded by separate genes. Both trong>betatrong>-hexosamtrong>introng>idase alpha and trong>betatrong> subunits are members of family 20 of glycosyl hydrolases. Mutations trong>introng> the alpha or trong>betatrong> subunit genes lead to an accumulation of GM2 ganglioside trong>introng> neurons and neurodegenerative disorders termed the GM2 gangliosidoses. trong>Betatrong> subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, May 2014]
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transformtrong>introng>g growth factor, trong>betatrong> 1
This gene encodes a secreted ligand of the TGF-trong>betatrong> (transformtrong>introng>g growth factor-trong>betatrong>) superfamily of protetrong>introng>s. Ligands of this family btrong>introng>d various TGF-trong>betatrong> trong>receptortrong>s leadtrong>introng>g to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotetrong>introng> is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found trong>introng> either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-trong>betatrong> btrong>introng>dtrong>introng>g protetrong>introng>, or trong>introng> an active form consisttrong>introng>g solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGFB family members. This encoded protetrong>introng> regulates cell proliferation, differentiation and growth, and can modulate expression and activation of other growth factors trong>introng>cludtrong>introng>g trong>introng>terferon gamma and tumor necrosis factor alpha. This gene is frequently upregulated trong>introng> tumor cells, and mutations trong>introng> this gene result trong>introng> Camurati-Engelmann disease. [provided by RefSeq, Aug 2016]
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transformtrong>introng>g growth factor, trong>betatrong> 2
This gene encodes a secreted ligand of the TGF-trong>betatrong> (transformtrong>introng>g growth factor-trong>betatrong>) superfamily of protetrong>introng>s. Ligands of this family btrong>introng>d various TGF-trong>betatrong> trong>receptortrong>s leadtrong>introng>g to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotetrong>introng> is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found trong>introng> either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-trong>betatrong> btrong>introng>dtrong>introng>g protetrong>introng>, or trong>introng> an active form consisttrong>introng>g solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-trong>betatrong> family members. Disruption of the TGF-trong>betatrong>/SMAD pathway has been implicated trong>introng> a variety of human cancers. A chromosomal translocation that trong>introng>cludes this gene is associated with Peters' anomaly, a congenital defect of the anterior chamber of the eye. Mutations trong>introng> this gene may be associated with Loeys-Dietz syndrome. This gene encodes multiple isoforms that may undergo similar proteolytic processtrong>introng>g. [provided by RefSeq, Aug 2016]
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transformtrong>introng>g growth factor, trong>betatrong> 3
This gene encodes a secreted ligand of the TGF-trong>betatrong> (transformtrong>introng>g growth factor-trong>betatrong>) superfamily of protetrong>introng>s. Ligands of this family btrong>introng>d various TGF-trong>betatrong> trong>receptortrong>s leadtrong>introng>g to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotetrong>introng> is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found trong>introng> either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-trong>betatrong> btrong>introng>dtrong>introng>g protetrong>introng>, or trong>introng> an active form consisttrong>introng>g solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-trong>betatrong> family members. This protetrong>introng> is trong>introng>volved trong>introng> embryogenesis and cell differentiation, and may play a role trong>introng> wound healtrong>introng>g. Mutations trong>introng> this gene are a cause of aortic aneurysms and dissections, as well as familial arrhythmogenic right ventricular dysplasia 1. [provided by RefSeq, Aug 2016]
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transformtrong>introng>g growth factor, trong>betatrong>-trong>introng>duced, 68kDa
This gene encodes an RGD-contatrong>introng>trong>introng>g protetrong>introng> that btrong>introng>ds to type I, II and IV collagens. The RGD motif is found trong>introng> many extracellular matrix protetrong>introng>s modulattrong>introng>g cell adhesion and serves as a ligand recognition sequence for several trong>introng>tegrtrong>introng>s. This protetrong>introng> plays a role trong>introng> cell-collagen trong>introng>teractions and may be trong>introng>volved trong>introng> endochondrial bone formation trong>introng> cartilage. The protetrong>introng> is trong>introng>duced by transformtrong>introng>g growth factor-trong>betatrong> and acts to trong>introng>hibit cell adhesion. Mutations trong>introng> this gene are associated with multiple types of corneal dystrophy. [provided by RefSeq, Jul 2008]
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acttrong>introng>, trong>betatrong> pseudogene 12
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acttrong>introng>, trong>betatrong> pseudogene 13
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acttrong>introng>, trong>betatrong> pseudogene 10
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acttrong>introng>, trong>betatrong> pseudogene 11
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syntrophtrong>introng>, trong>betatrong> 2 (dystrophtrong>introng>-associated protetrong>introng> A1, 59kDa, basic component 2)
Dystrophtrong>introng> is a large, rod-like cytoskeletal protetrong>introng> found at the trong>introng>ner surface of muscle fibers. Dystrophtrong>introng> is misstrong>introng>g trong>introng> Duchenne Muscular Dystrophy patients and is present trong>introng> reduced amounts trong>introng> Becker Muscular Dystrophy patients. The protetrong>introng> encoded by this gene is a peripheral membrane protetrong>introng> found associated with dystrophtrong>introng> and dystrophtrong>introng>-related protetrong>introng>s. This gene is a member of the syntrophtrong>introng> gene family, which contatrong>introng>s at least two other structurally-related genes. [provided by RefSeq, Jul 2008]
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syntrophtrong>introng>, trong>betatrong> 1 (dystrophtrong>introng>-associated protetrong>introng> A1, 59kDa, basic component 1)
Dystrophtrong>introng> is a large, rod-like cytoskeletal protetrong>introng> found at the trong>introng>ner surface of muscle fibers. Dystrophtrong>introng> is misstrong>introng>g trong>introng> Duchenne Muscular Dystrophy patients and is present trong>introng> reduced amounts trong>introng> Becker Muscular Dystrophy patients. The protetrong>introng> encoded by this gene is a peripheral membrane protetrong>introng> found associated with dystrophtrong>introng> and dystrophtrong>introng>-related protetrong>introng>s. This gene is a member of the syntrophtrong>introng> gene family, which contatrong>introng>s at least two other structurally-related genes. [provided by RefSeq, Jul 2008]
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potassium channel subfamily M regulatory trong>betatrong> subunit 1
MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-formtrong>introng>g alpha subunit and the product of this gene, the modulatory trong>betatrong> subunit. trong>Introng>tracellular calcium regulates the physical association between the alpha and trong>betatrong> subunits. [provided by RefSeq, Jul 2008]
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potassium channel subfamily M regulatory trong>betatrong> subunit 3
MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-formtrong>introng>g alpha subunit and the modulatory trong>betatrong> subunit. The protetrong>introng> encoded by this gene is an auxiliary trong>betatrong> subunit which may partially trong>introng>activate or slightly decrease the activation time of MaxiK alpha subunit currents. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. A related pseudogene has been identified on chromosome 22. [provided by RefSeq, Jul 2009]
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potassium channel subfamily M regulatory trong>betatrong> subunit 2
MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-formtrong>introng>g alpha subunit and the modulatory trong>betatrong> subunit. The protetrong>introng> encoded by this gene is an auxiliary trong>betatrong> subunit which decreases the activation time of MaxiK alpha subunit currents. Alternative splictrong>introng>g results trong>introng> multiple transcript variants of this gene. Additional variants are discussed trong>introng> the literature, but their full length nature has not been described. [provided by RefSeq, Jul 2013]
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potassium channel subfamily M regulatory trong>betatrong> subunit 4
MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-formtrong>introng>g alpha subunit and the modulatory trong>betatrong> subunit. The protetrong>introng> encoded by this gene is an auxiliary trong>betatrong> subunit which slows activation ktrong>introng>etics, leads to steeper calcium sensitivity, and shifts the voltage range of current activation to more negative potentials than does the trong>betatrong> 1 subunit. [provided by RefSeq, Jul 2008]
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chaperontrong>introng> contatrong>introng>trong>introng>g TCP1, subunit 2 (trong>betatrong>)
The protetrong>introng> encoded by this gene is a molecular chaperone that is a member of the chaperontrong>introng> contatrong>introng>trong>introng>g TCP1 complex (CCT), also known as the TCP1 rtrong>introng>g complex (TRiC). This complex consists of two identical stacked rtrong>introng>gs, each contatrong>introng>trong>introng>g eight different protetrong>introng>s. Unfolded polypeptides enter the central cavity of the complex and are folded trong>introng> an ATP-dependent manner. The complex folds various protetrong>introng>s, trong>introng>cludtrong>introng>g acttrong>introng> and tubultrong>introng>. Two transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
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aspartate trong>betatrong>-hydroxylase
This gene is thought to play an important role trong>introng> calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splictrong>introng>g. The encoded set of protetrong>introng>s share varytrong>introng>g amounts of overlap near their N-termtrong>introng>i but have substantial variations trong>introng> their C-termtrong>introng>al domatrong>introng>s resulttrong>introng>g trong>introng> disttrong>introng>ct functional properties. The longest isoforms (a and f) trong>introng>clude a C-termtrong>introng>al Aspartyl/Asparagtrong>introng>yl trong>betatrong>-hydroxylase domatrong>introng> that hydroxylates aspartic acid or asparagtrong>introng>e residues trong>introng> the epidermal growth factor (EGF)-like domatrong>introng>s of some protetrong>introng>s, trong>introng>cludtrong>introng>g protetrong>introng> C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. Other isoforms differ primarily trong>introng> the C-termtrong>introng>al sequence and lack the hydroxylase domatrong>introng>, and some have been localized to the endoplasmic and sarcoplasmic reticulum. Some of these isoforms are found trong>introng> complexes with calsequestrtrong>introng>, triadtrong>introng>, and the ryanodtrong>introng>e trong>receptortrong>, and have been shown to regulate calcium release from the sarcoplasmic reticulum. Some isoforms have been implicated trong>introng> metastasis. [provided by RefSeq, Sep 2009]
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catentrong>introng> (cadhertrong>introng>-associated protetrong>introng>), trong>betatrong> 1, 88kDa
The protetrong>introng> encoded by this gene is part of a complex of protetrong>introng>s that constitute adherens junctions (AJs). AJs are necessary for the creation and matrong>introng>tenance of epithelial cell layers by regulattrong>introng>g cell growth and adhesion between cells. The encoded protetrong>introng> also anchors the acttrong>introng> cytoskeleton and may be responsible for transmitttrong>introng>g the contact trong>introng>hibition signal that causes cells to stop dividtrong>introng>g once the epithelial sheet is complete. Ftrong>introng>ally, this protetrong>introng> btrong>introng>ds to the product of the APC gene, which is mutated trong>introng> adenomatous polyposis of the colon. Mutations trong>introng> this gene are a cause of colorectal cancer (CRC), pilomatrixoma (PTR), medulloblastoma (MDB), and ovarian cancer. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Aug 2016]
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ATPase, Na+/K+ transporttrong>introng>g, trong>betatrong> 4 polypeptide
This gene has been found trong>introng> all vertebrate genomes sequenced to date. However, this gene has undergone a change trong>introng> function trong>introng> placental mammals compared to other species. Specifically, trong>introng> fish, avian, and amphibian species, this gene encodes plasma membrane-bound trong>betatrong>-subunits of Na,K-ATPase. trong>Introng> placental mammals, the encoded protetrong>introng> trong>introng>teracts with the nuclear transcriptional coregulator SKIP and may be trong>introng>volved trong>introng> the regulation of TGF-trong>betatrong> signaltrong>introng>g. Two transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
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ATPase, Na+/K+ transporttrong>introng>g, trong>betatrong> 2 polypeptide
The protetrong>introng> encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases trong>betatrong> trong>chatrong>introng>trong> protetrong>introng>s, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an trong>introng>tegral membrane protetrong>introng> responsible for establishtrong>introng>g and matrong>introng>tatrong>introng>trong>introng>g the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and trong>introng>organic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotetrong>introng> subunit (trong>betatrong>). The trong>betatrong> subunit regulates, through assembly of alpha/trong>betatrong> heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotetrong>introng> subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a trong>betatrong> 2 subunit. Two transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]
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ATPase, Na+/K+ transporttrong>introng>g, trong>betatrong> 3 polypeptide
The protetrong>introng> encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases trong>betatrong> trong>chatrong>introng>trong> protetrong>introng>s, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an trong>introng>tegral membrane protetrong>introng> responsible for establishtrong>introng>g and matrong>introng>tatrong>introng>trong>introng>g the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and trong>introng>organic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotetrong>introng> subunit (trong>betatrong>). The trong>betatrong> subunit regulates, through assembly of alpha/trong>betatrong> heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotetrong>introng> subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a trong>betatrong> 3 subunit. This gene encodes a trong>betatrong> 3 subunit. A pseudogene exists for this gene, and it is located on chromosome 2. [provided by RefSeq, Jul 2008]
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ATPase, Na+/K+ transporttrong>introng>g, trong>betatrong> 1 polypeptide
The protetrong>introng> encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases trong>betatrong> trong>chatrong>introng>trong> protetrong>introng>s, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an trong>introng>tegral membrane protetrong>introng> responsible for establishtrong>introng>g and matrong>introng>tatrong>introng>trong>introng>g the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and trong>introng>organic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotetrong>introng> subunit (trong>betatrong>). The trong>betatrong> subunit regulates, through assembly of alpha/trong>betatrong> heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotetrong>introng> subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a trong>betatrong> 1 subunit. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been described, but their biological validity is not known. [provided by RefSeq, Mar 2010]
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Sec61 trong>betatrong> subunit
The Sec61 complex is the central component of the protetrong>introng> translocation apparatus of the endoplasmic reticulum (ER) membrane. Oligomers of the Sec61 complex form a transmembrane channel where protetrong>introng>s are translocated across and trong>introng>tegrated trong>introng>to the ER membrane. This complex consists of three membrane protetrong>introng>s- alpha, trong>betatrong>, and gamma. This gene encodes the trong>betatrong>-subunit protetrong>introng>. The Sec61 subunits are also observed trong>introng> the post-ER compartment, suggesttrong>introng>g that these protetrong>introng>s can escape the ER and recycle back. There is evidence for multiple polyadenylated sites for this transcript. [provided by RefSeq, Jul 2008]
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alcohol dehydrogenase 1B (class I), trong>betatrong> polypeptide
The protetrong>introng> encoded by this gene is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, trong>introng>cludtrong>introng>g ethanol, rettrong>introng>ol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. This encoded protetrong>introng>, consisttrong>introng>g of several homo- and heterodimers of alpha, trong>betatrong>, and gamma subunits, exhibits high activity for ethanol oxidation and plays a major role trong>introng> ethanol catabolism. Three genes encodtrong>introng>g alpha, trong>betatrong> and gamma subunits are tandemly organized trong>introng> a genomic segment as a gene cluster. Two transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
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major histocompatibility complex, class II, DP trong>betatrong> 1
HLA-DPB belongs to the HLA class II trong>betatrong> trong>chatrong>introng>trong> paralogues. This class II molecule is a heterodimer consisttrong>introng>g of an alpha (DPA) and a trong>betatrong> trong>chatrong>introng>trong> (DPB), both anchored trong>introng> the membrane. It plays a central role trong>introng> the immune system by presenttrong>introng>g peptides derived from extracellular protetrong>introng>s. Class II molecules are expressed trong>introng> antigen presenttrong>introng>g cells (APC: B lymphocytes, dendritic cells, macrophages). The trong>betatrong> trong>chatrong>introng>trong> is approximately 26-28 kDa and its gene contatrong>introng>s 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domatrong>introng>s, exon 4 encodes the transmembrane domatrong>introng> and exon 5 encodes the cytoplasmic tail. Withtrong>introng> the DP molecule both the alpha trong>chatrong>introng>trong> and the trong>betatrong> trong>chatrong>introng>trong> contatrong>introng> the polymorphisms specifytrong>introng>g the peptide btrong>introng>dtrong>introng>g specificities, resulttrong>introng>g trong>introng> up to 4 different molecules. [provided by RefSeq, Jul 2008]
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major histocompatibility complex, class II, DP trong>betatrong> 2 (pseudogene)
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tubultrong>introng>, trong>betatrong> 8 class VIII
The protetrong>introng> encoded by this gene represents the primary trong>betatrong>-tubultrong>introng> subunit of oocytes and the early embryo. Defects trong>introng> this gene, which is primate-specific, are a cause of oocyte maturation defect 2 and trong>introng>fertility. [provided by RefSeq, Mar 2016]
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tubultrong>introng>, trong>betatrong> 6 class V
Predicted to enable GTP btrong>introng>dtrong>introng>g activity. Predicted to be a structural constituent of cytoskeleton. Predicted to be trong>introng>volved trong>introng> microtubule cytoskeleton organization and mitotic cell cycle. Located trong>introng> trong>introng>tercellular bridge; microtubule; and mitotic sptrong>introng>dle. [provided by Alliance of Genome Resources, Mar 2025]
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tubultrong>introng>, trong>betatrong> 3 class III
This gene encodes a class III member of the trong>betatrong> tubultrong>introng> protetrong>introng> family. trong>Betatrong> tubultrong>introng>s are one of two core protetrong>introng> families (alpha and trong>betatrong> tubultrong>introng>s) that heterodimerize and assemble to form microtubules. This protetrong>introng> is primarily expressed trong>introng> neurons and may be trong>introng>volved trong>introng> neurogenesis and axon guidance and matrong>introng>tenance. Mutations trong>introng> this gene are the cause of congenital fibrosis of the extraocular muscles type 3. Alternate splictrong>introng>g results trong>introng> multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Oct 2010]
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tubultrong>introng>, trong>betatrong> 1 class VI
This gene encodes a member of the trong>betatrong> tubultrong>introng> protetrong>introng> family. trong>Betatrong> tubultrong>introng>s are one of two core protetrong>introng> families (alpha and trong>betatrong> tubultrong>introng>s) that heterodimerize and assemble to form microtubules. This protetrong>introng> is specifically expressed trong>introng> platelets and megakaryocytes and may be trong>introng>volved trong>introng> proplatelet production and platelet release. A mutations trong>introng> this gene is associated with autosomal domtrong>introng>ant macrothrombocytopenia. Two pseudogenes of this gene are found on chromosome Y.[provided by RefSeq, Jul 2010]
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NADH dehydrogenase (ubiqutrong>introng>one) 1 trong>betatrong> subcomplex, 5, 16kDa pseudogene
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protocadhertrong>introng> trong>betatrong> 17 pseudogene
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locus control region, trong>betatrong>
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hydroxy-delta-5-steroid dehydrogenase, 3 trong>betatrong>- and steroid delta-isomerase 7
This gene encodes an enzyme which is trong>introng>volved trong>introng> the trong>introng>itial stages of the synthesis of bile acids from cholesterol and a member of the short-trong>chatrong>introng>trong> dehydrogenase/reductase superfamily. The encoded protetrong>introng> is a membrane-associated endoplasmic reticulum protetrong>introng> which is active agatrong>introng>st 7-alpha hydrosylated sterol substrates. Mutations trong>introng> this gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
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hydroxy-delta-5-steroid dehydrogenase, 3 trong>betatrong>- and steroid delta-isomerase 1
The protetrong>introng> encoded by this gene is an enzyme that catalyzes the oxidative conversion of delta-5-3-trong>betatrong>-hydroxysteroid precursors trong>introng>to delta-4-ketosteroids, which leads to the production of all classes of steroid hormones. The encoded protetrong>introng> also catalyzes the trong>introng>terconversion of 3-trong>betatrong>-hydroxy- and 3-keto-5-alpha-androstane steroids. [provided by RefSeq, Jun 2016]
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hydroxy-delta-5-steroid dehydrogenase, 3 trong>betatrong>- and steroid delta-isomerase 2
The protetrong>introng> encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-trong>betatrong>-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role trong>introng> the biosynthesis of all classes of hormonal steroids. This gene is predomtrong>introng>antly expressed trong>introng> the adrenals and the gonads. Mutations trong>introng> this gene are associated with 3-trong>betatrong>-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]
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tubultrong>introng>, trong>betatrong> 4B class IVb pseudogene 7
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protetrong>introng> ktrong>introng>ase, AMP-activated, trong>betatrong> 2 non-catalytic subunit
The protetrong>introng> encoded by this gene is a regulatory subunit of the AMP-activated protetrong>introng> ktrong>introng>ase (AMPK). AMPK is a heterotrimer consisttrong>introng>g of an alpha catalytic subunit, and non-catalytic trong>betatrong> and gamma subunits. AMPK is an important energy-senstrong>introng>g enzyme that monitors cellular energy status. trong>Introng> response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and trong>introng>activates acetyl-CoA carboxylase (ACC) and trong>betatrong>-hydroxy trong>betatrong>-methylglutaryl-CoA reductase (HMGCR), key enzymes trong>introng>volved trong>introng> regulattrong>introng>g de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. It is highly expressed trong>introng> skeletal muscle and thus may have tissue-specific roles. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013]
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protetrong>introng> ktrong>introng>ase, AMP-activated, trong>betatrong> 1 non-catalytic subunit
The protetrong>introng> encoded by this gene is a regulatory subunit of the AMP-activated protetrong>introng> ktrong>introng>ase (AMPK). AMPK is a heterotrimer consisttrong>introng>g of an alpha catalytic subunit, and non-catalytic trong>betatrong> and gamma subunits. AMPK is an important energy-senstrong>introng>g enzyme that monitors cellular energy status. trong>Introng> response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and trong>introng>activates acetyl-CoA carboxylase (ACC) and trong>betatrong>-hydroxy trong>betatrong>-methylglutaryl-CoA reductase (HMGCR), key enzymes trong>introng>volved trong>introng> regulattrong>introng>g de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. The myristoylation and phosphorylation of this subunit have been shown to affect the enzyme activity and cellular localization of AMPK. This subunit may also serve as an adaptor molecule mediattrong>introng>g the association of the AMPK complex. [provided by RefSeq, Jul 2008]
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hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protetrong>introng>), trong>betatrong> subunit pseudogene
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transformtrong>introng>g growth factor trong>betatrong> regulator 1
trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g DNA replication; protetrong>introng> localization to nucleoplasm; and protetrong>introng> stabilization. Located trong>introng> nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]
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transformtrong>introng>g growth factor trong>betatrong> regulator 4
Enables RNA btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> mitochondrial mRNA processtrong>introng>g and regulation of mitochondrial mRNA stability. Located trong>introng> mitochondrial matrix. [provided by Alliance of Genome Resources, Mar 2025]
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hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protetrong>introng>), trong>betatrong> subunit
This gene encodes the trong>betatrong> subunit of the mitochondrial trifunctional protetrong>introng>, which catalyzes the last three steps of mitochondrial trong>betatrong>-oxidation of long trong>chatrong>introng>trong> fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four trong>betatrong> subunits, with the trong>betatrong> subunit catalyztrong>introng>g the 3-ketoacyl-CoA thiolase activity. The encoded protetrong>introng> can also btrong>introng>d RNA and decreases the stability of some mRNAs. The genes of the alpha and trong>betatrong> subunits of the mitochondrial trifunctional protetrong>introng> are located adjacent to each other trong>introng> the human genome trong>introng> a head-to-head orientation. Mutations trong>introng> this gene result trong>introng> trifunctional protetrong>introng> deficiency. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been described. [provided by RefSeq, Jul 2013]
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tubultrong>introng>, trong>betatrong> 4B class IVb
Enables double-stranded RNA btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> microtubule cytoskeleton organization and mitotic cell cycle. Located trong>introng> axonemal microtubule; trong>introng>tercellular bridge; and mitotic sptrong>introng>dle. Implicated trong>introng> Leber congenital amaurosis with early-onset deafness. [provided by Alliance of Genome Resources, Mar 2025]
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tubultrong>introng>, trong>betatrong> 4A class IVa
This gene encodes a member of the trong>betatrong> tubultrong>introng> family. trong>Betatrong> tubultrong>introng>s are one of two core protetrong>introng> families (alpha and trong>betatrong> tubultrong>introng>s) that heterodimerize and assemble to form microtubules. Mutations trong>introng> this gene cause hypomyeltrong>introng>attrong>introng>g leukodystrophy-6 and autosomal domtrong>introng>ant torsion dystonia-4. Alternate splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g different isoforms. A pseudogene of this gene is found on chromosome X. [provided by RefSeq, Jan 2014]
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glucuronidase, trong>betatrong> pseudogene 10
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glucuronidase, trong>betatrong> pseudogene 12
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gap junction protetrong>introng>, trong>betatrong> 1, 32kDa
This gene encodes a member of the gap junction protetrong>introng> family. The gap junction protetrong>introng>s are membrane-spanntrong>introng>g protetrong>introng>s that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. Accordtrong>introng>g to sequence similarities at the nucleotide and amtrong>introng>o acid levels, the gap junction protetrong>introng>s are divided trong>introng>to two categories, alpha and trong>betatrong>. Mutations trong>introng> this gene cause X-ltrong>introng>ked Charcot-Marie-Tooth disease, an trong>introng>herited peripheral neuropathy. Alternatively spliced transcript variants encodtrong>introng>g the same protetrong>introng> have been found for this gene. [provided by RefSeq, Oct 2008]
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gap junction protetrong>introng>, trong>betatrong> 3, 31kDa
This gene is a member of the connextrong>introng> gene family. The encoded protetrong>introng> is a component of gap junctions, which are composed of arrays of trong>introng>tercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations trong>introng> this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a sktrong>introng> disorder. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g the same protetrong>introng>. [provided by RefSeq, Jul 2008]
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gap junction protetrong>introng>, trong>betatrong> 2, 26kDa
This gene encodes a member of the gap junction protetrong>introng> family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacttrong>introng>g adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction protetrong>introng>s, also known as connextrong>introng>s, purified from fractions of enriched gap junctions from different tissues differ. Accordtrong>introng>g to sequence similarities at the nucleotide and amtrong>introng>o acid levels, the gap junction protetrong>introng>s are divided trong>introng>to two categories, alpha and trong>betatrong>. Mutations trong>introng> this gene are responsible for as much as 50% of pre-ltrong>introng>gual, recessive deafness. [provided by RefSeq, Oct 2008]
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gap junction protetrong>introng>, trong>betatrong> 5, 31.1kDa
This gene encodes a member of the trong>betatrong>-type (group I) connextrong>introng> family. The encoded protetrong>introng> is a gap junction protetrong>introng> trong>introng>volved trong>introng> trong>introng>tercellular communication related to epidermal differentiation and environmental senstrong>introng>g. This gene has been ltrong>introng>ked to non-small cell lung cancer. [provided by RefSeq, Nov 2012]
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gap junction protetrong>introng>, trong>betatrong> 4, 30.3kDa
This gene encodes a transmembrane connextrong>introng> protetrong>introng> that is a component of gap junctions. Mutations trong>introng> this gene have been associated with erythrokeratodermia variabilis, progressive symmetric erythrokeratoderma and heartrong>introng>g impairment. [provided by RefSeq, Dec 2009]
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glucuronidase, trong>betatrong> pseudogene
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glucuronidase, trong>betatrong> pseudogene
Predicted to be trong>introng>volved trong>introng> nervous system development and skeletal system development. [provided by Alliance of Genome Resources, Mar 2025]
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collagen trong>betatrong>(1-O)galactosyltransferase 2
Predicted to enable procollagen galactosyltransferase activity. Predicted to be trong>introng>volved trong>introng> collagen fibril organization. Predicted to be located trong>introng> endoplasmic reticulum lumen. [provided by Alliance of Genome Resources, Mar 2025]
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collagen trong>betatrong>(1-O)galactosyltransferase 1
The protetrong>introng> encoded by this gene is one of two enzymes that transfers galactose moieties to hydroxylystrong>introng>e residues of collagen and mannose btrong>introng>dtrong>introng>g lecttrong>introng>. This gene is constitutively expressed and encodes a soluble protetrong>introng> that localizes to the endoplasmic reticulum. [provided by RefSeq, Dec 2015]
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signal-regulatory protetrong>introng> trong>betatrong> 2
Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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signal-regulatory protetrong>introng> trong>betatrong> 1
The protetrong>introng> encoded by this gene is a member of the signal-regulatory-protetrong>introng> (SIRP) family, and also belongs to the immunoglobultrong>introng> superfamily. SIRP family members are trong>receptortrong>-type transmembrane glycoprotetrong>introng>s known to be trong>introng>volved trong>introng> the negative regulation of trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase-coupled signaltrong>introng>g processes. This protetrong>introng> was found to trong>introng>teract with TYROBP/DAP12, a protetrong>introng> beartrong>introng>g immunotrong>receptortrong> tyrostrong>introng>e-based activation motifs. This protetrong>introng> was also reported to participate trong>introng> the recruitment of tyrostrong>introng>e ktrong>introng>ase SYK. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
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ureidopropionase, trong>betatrong>
This gene encodes a protetrong>introng> that belongs to the CN hydrolase family. trong>Betatrong>-ureidopropionase catalyzes the last step trong>introng> the pyrimidtrong>introng>e degradation pathway. The pyrimidtrong>introng>e bases uracil and thymtrong>introng>e are degraded via the consecutive action of dihydropyrimidtrong>introng>e dehydrogenase (DHPDH), dihydropyrimidtrong>introng>ase (DHP) and trong>betatrong>-ureidopropionase (UP) to trong>betatrong>-alantrong>introng>e and trong>betatrong>-amtrong>introng>oisobutyric acid, respectively. UP deficiencies are associated with N-carbamyl-trong>betatrong>-amtrong>introng>o aciduria and may lead to abnormalities trong>introng> neurological activity. [provided by RefSeq, Jul 2008]
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defenstrong>introng>, trong>betatrong> 109, pseudogene 2
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defenstrong>introng>, trong>betatrong> 109, pseudogene 1
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methylcrotonoyl-CoA carboxylase 2 (trong>betatrong>)
This gene encodes the small subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations trong>introng> this gene are associated with 3-Methylcrotonylglyctrong>introng>uria, an autosomal recessive disorder of leuctrong>introng>e catabolism. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g disttrong>introng>ct isoforms. [provided by RefSeq, May 2018]
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karyophertrong>introng> (importtrong>introng>) trong>betatrong> 1
Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded trong>introng> the nuclear envelope. The import of protetrong>introng>s contatrong>introng>trong>introng>g a nuclear localization signal (NLS) requires the NLS import trong>receptortrong>, a heterodimer of importtrong>introng> alpha and trong>betatrong> subunits also known as karyophertrong>introng>s. Importtrong>introng> alpha btrong>introng>ds the NLS-contatrong>introng>trong>introng>g cargo trong>introng> the cytoplasm and importtrong>introng> trong>betatrong> docks the complex at the cytoplasmic side of the nuclear pore complex. trong>Introng> the presence of nucleoside triphosphates and the small GTP btrong>introng>dtrong>introng>g protetrong>introng> Ran, the complex moves trong>introng>to the nuclear pore complex and the importtrong>introng> subunits dissociate. Importtrong>introng> alpha enters the nucleoplasm with its passenger protetrong>introng> and importtrong>introng> trong>betatrong> rematrong>introng>s at the pore. trong>Introng>teractions between importtrong>introng> trong>betatrong> and the FG repeats of nucleoportrong>introng>s are essential trong>introng> translocation through the pore complex. The protetrong>introng> encoded by this gene is a member of the importtrong>introng> trong>betatrong> family. Two transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]
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trong>betatrong>-site APP-cleavtrong>introng>g enzyme 1
This gene encodes a member of the peptidase A1 family of aspartic proteases. Alternative splictrong>introng>g results trong>introng> multiple transcript variants, at least one of which encodes a preproprotetrong>introng> that is proteolytically processed to generate the mature protease. This transmembrane protease catalyzes the first step trong>introng> the formation of amyloid trong>betatrong> peptide from amyloid precursor protetrong>introng>. Amyloid trong>betatrong> peptides are the matrong>introng> constituent of amyloid trong>betatrong> plaques, which accumulate trong>introng> the bratrong>introng>s of human Alzheimer's disease patients. [provided by RefSeq, Nov 2015]
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trong>betatrong>-site APP-cleavtrong>introng>g enzyme 2
This gene encodes an trong>introng>tegral membrane glycoprotetrong>introng> that functions as an aspartic protease. The encoded protetrong>introng> cleaves amyloid precursor protetrong>introng> trong>introng>to amyloid trong>betatrong> peptide, which is a critical step trong>introng> the etiology of Alzheimer's disease and Down syndrome. The protetrong>introng> precursor is further processed trong>introng>to an active mature peptide. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jul 2013]
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metallo-trong>betatrong>-lactamase domatrong>introng> contatrong>introng>trong>introng>g 2
Enables trong>betatrong>-lactamase activity and long-trong>chatrong>introng>trong> fatty acyl-CoA hydrolase activity. Predicted to be trong>introng>volved trong>introng> fatty acid metabolic process. Located trong>introng> endoplasmic reticulum membrane and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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metallo-trong>betatrong>-lactamase domatrong>introng> contatrong>introng>trong>introng>g 1
Enables RNA endonuclease activity and metal ion btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> histone mRNA metabolic process; mRNA 3'-end processtrong>introng>g; and positive regulation of G1/S transition of mitotic cell cycle. Located trong>introng> cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]
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glucuronidase, trong>betatrong> pseudogene
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protocadhertrong>introng> trong>betatrong> 9
This gene is a member of the protocadhertrong>introng> trong>betatrong> gene cluster, one of three related gene clusters tandemly ltrong>introng>ked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell trong>receptortrong> gene clusters. The trong>betatrong> cluster contatrong>introng>s 16 genes and 3 pseudogenes, each encodtrong>introng>g 6 extracellular cadhertrong>introng> domatrong>introng>s and a cytoplasmic tail that deviates from others trong>introng> the cadhertrong>introng> superfamily. The extracellular domatrong>introng>s trong>introng>teract trong>introng> a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not shartrong>introng>g common 3' exons as expected. These neural cadhertrong>introng>-like cell adhesion protetrong>introng>s are trong>introng>tegral plasma membrane protetrong>introng>s. Their specific functions are unknown but they most likely play a critical role trong>introng> the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]
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protocadhertrong>introng> trong>betatrong> 8
This gene is a member of the protocadhertrong>introng> trong>betatrong> gene cluster, one of three related gene clusters tandemly ltrong>introng>ked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell trong>receptortrong> gene clusters. The trong>betatrong> cluster contatrong>introng>s 16 genes and 3 pseudogenes, each encodtrong>introng>g 6 extracellular cadhertrong>introng> domatrong>introng>s and a cytoplasmic tail that deviates from others trong>introng> the cadhertrong>introng> superfamily. The extracellular domatrong>introng>s trong>introng>teract trong>introng> a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not shartrong>introng>g common 3' exons as expected. These neural cadhertrong>introng>-like cell adhesion protetrong>introng>s are trong>introng>tegral plasma membrane protetrong>introng>s. Their specific functions are unknown but they most likely play a critical role trong>introng> the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]
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protocadhertrong>introng> trong>betatrong> 3
This gene is a member of the protocadhertrong>introng> trong>betatrong> gene cluster, one of three related gene clusters tandemly ltrong>introng>ked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell trong>receptortrong> gene clusters. The trong>betatrong> cluster contatrong>introng>s 16 genes and 3 pseudogenes, each encodtrong>introng>g 6 extracellular cadhertrong>introng> domatrong>introng>s and a cytoplasmic tail that deviates from others trong>introng> the cadhertrong>introng> superfamily. The extracellular domatrong>introng>s trong>introng>teract trong>introng> a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not shartrong>introng>g common 3' exons as expected. These neural cadhertrong>introng>-like cell adhesion protetrong>introng>s are trong>introng>tegral plasma membrane protetrong>introng>s. Their specific functions are unknown but they most likely play a critical role trong>introng> the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]
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protocadhertrong>introng> trong>betatrong> 2
This gene is a member of the protocadhertrong>introng> trong>betatrong> gene cluster, one of three related gene clusters tandemly ltrong>introng>ked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell trong>receptortrong> gene clusters. The trong>betatrong> cluster contatrong>introng>s 16 genes and 3 pseudogenes, each encodtrong>introng>g 6 extracellular cadhertrong>introng> domatrong>introng>s and a cytoplasmic tail that deviates from others trong>introng> the cadhertrong>introng> superfamily. The extracellular domatrong>introng>s trong>introng>teract trong>introng> a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not shartrong>introng>g common 3' exons as expected. These neural cadhertrong>introng>-like cell adhesion protetrong>introng>s are trong>introng>tegral plasma membrane protetrong>introng>s. Their specific functions are unknown but they most likely play a critical role trong>introng> the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]
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protocadhertrong>introng> trong>betatrong> 1
This gene is a member of the protocadhertrong>introng> trong>betatrong> gene cluster, one of three related gene clusters tandemly ltrong>introng>ked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell trong>receptortrong> gene clusters. The trong>betatrong> cluster contatrong>introng>s 16 genes and 3 pseudogenes, each encodtrong>introng>g 6 extracellular cadhertrong>introng> domatrong>introng>s and a cytoplasmic tail that deviates from others trong>introng> the cadhertrong>introng> superfamily. The extracellular domatrong>introng>s trong>introng>teract trong>introng> a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not shartrong>introng>g common 3' exons as expected. These neural cadhertrong>introng>-like cell adhesion protetrong>introng>s are trong>introng>tegral plasma membrane protetrong>introng>s. Their specific functions are unknown but they most likely play a critical role trong>introng> the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]
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protocadhertrong>introng> trong>betatrong> 7
This gene is a member of the protocadhertrong>introng> trong>betatrong> gene cluster, one of three related gene clusters tandemly ltrong>introng>ked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell trong>receptortrong> gene clusters. The trong>betatrong> cluster contatrong>introng>s 16 genes and 3 pseudogenes, each encodtrong>introng>g 6 extracellular cadhertrong>introng> domatrong>introng>s and a cytoplasmic tail that deviates from others trong>introng> the cadhertrong>introng> superfamily. The extracellular domatrong>introng>s trong>introng>teract trong>introng> a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not shartrong>introng>g common 3' exons as expected. These neural cadhertrong>introng>-like cell adhesion protetrong>introng>s are trong>introng>tegral plasma membrane protetrong>introng>s. Their specific functions are unknown but they most likely play a critical role trong>introng> the establishment and function of specific cell-cell neural connections. The transcript for this particular family member uses more than one polyadenylation site. [provided by RefSeq, Jul 2008]
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protocadhertrong>introng> trong>betatrong> 6
This gene is a member of the protocadhertrong>introng> trong>betatrong> gene cluster, one of three related gene clusters tandemly ltrong>introng>ked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell trong>receptortrong> gene clusters. Unlike the alpha and gamma clusters, the transcripts from these genes do not share common 3' exons. These neural cadhertrong>introng>-like cell adhesion protetrong>introng>s are trong>introng>tegral plasma membrane protetrong>introng>s that most likely play a critical role trong>introng> the establishment and function of specific cell-cell neural connections. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Dec 2014]
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protocadhertrong>introng> trong>betatrong> 5
This gene is a member of the protocadhertrong>introng> trong>betatrong> gene cluster, one of three related gene clusters tandemly ltrong>introng>ked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell trong>receptortrong> gene clusters. The trong>betatrong> cluster contatrong>introng>s 16 genes and 3 pseudogenes, each encodtrong>introng>g 6 extracellular cadhertrong>introng> domatrong>introng>s and a cytoplasmic tail that deviates from others trong>introng> the cadhertrong>introng> superfamily. The extracellular domatrong>introng>s trong>introng>teract trong>introng> a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not shartrong>introng>g common 3' exons as expected. These neural cadhertrong>introng>-like cell adhesion protetrong>introng>s are trong>introng>tegral plasma membrane protetrong>introng>s. Their specific functions are unknown but they most likely play a critical role trong>introng> the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]
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protocadhertrong>introng> trong>betatrong> 4
This gene is a member of the protocadhertrong>introng> trong>betatrong> gene cluster, one of three related gene clusters tandemly ltrong>introng>ked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell trong>receptortrong> gene clusters. The trong>betatrong> cluster contatrong>introng>s 16 genes and 3 pseudogenes, each encodtrong>introng>g 6 extracellular cadhertrong>introng> domatrong>introng>s and a cytoplasmic tail that deviates from others trong>introng> the cadhertrong>introng> superfamily. The extracellular domatrong>introng>s trong>introng>teract trong>introng> a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not shartrong>introng>g common 3' exons as expected. These neural cadhertrong>introng>-like cell adhesion protetrong>introng>s are trong>introng>tegral plasma membrane protetrong>introng>s. Their specific functions are unknown but they most likely play a critical role trong>introng> the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]
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protocadhertrong>introng> trong>betatrong> cluster
The protocadhertrong>introng> trong>betatrong> cluster is one of three related gene clusters tandemly ltrong>introng>ked on chromosome five. The protocadhertrong>introng> genes have an immunoglobultrong>introng>-like genomic organization, suggesttrong>introng>g that a novel mechanism may be trong>introng>volved trong>introng> their regulation and expression. The trong>betatrong> cluster contatrong>introng>s 16 genes and 3 pseudogenes. Each gene product contatrong>introng>s 6 extracellular cadhertrong>introng> domatrong>introng>s and a cytoplasmic tail that diverges from other cadhertrong>introng> superfamily members. Unlike the alpha and gamma clusters, the trong>betatrong> cluster has a variable region but lacks a constant region. Without this downstream region of shared exons, each transcript encodes a unique cytoplasmic tail. The specific functions of these one-exon gene products are unknown; however, they are thought to play a critical role trong>introng> the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]
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defenstrong>introng>, trong>betatrong> 109
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adrenoceptor trong>betatrong> 2, surface
This gene encodes trong>betatrong>-2-adrenergic trong>receptortrong> which is a member of the G protetrong>introng>-coupled trong>receptortrong> superfamily. This trong>receptortrong> is directly associated with one of its ultimate effectors, the class C L-type calcium channel Ca(V)1.2. This trong>receptortrong>-channel complex also contatrong>introng>s a G protetrong>introng>, an adenylyl cyclase, cAMP-dependent ktrong>introng>ase, and the counterbalanctrong>introng>g phosphatase, PP2A. The assembly of the signaltrong>introng>g complex provides a mechanism that ensures specific and rapid signaltrong>introng>g by this G protetrong>introng>-coupled trong>receptortrong>. This trong>receptortrong> is also a transcription regulator of the alpha-synucletrong>introng> gene, and together, both genes are believed to be associated with risk of Parktrong>introng>son's Disease. This gene is trong>introng>tronless. Different polymorphic forms, potrong>introng>t mutations, and/or downregulation of this gene are associated with nocturnal asthma, obesity, type 2 diabetes and cardiovascular disease. [provided by RefSeq, Oct 2019]
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defenstrong>introng>, trong>betatrong> 108, pseudogene 1
Predicted to be trong>introng>volved trong>introng> defense response to bacterium and trong>introng>nate immune response. Predicted to be located trong>introng> extracellular region. [provided by Alliance of Genome Resources, Mar 2025]
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cystathiontrong>introng>e trong>betatrong>-synthase
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trong>Betatrong>-defenstrong>introng> 108B-like
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bartttrong>introng> CLCNK-type chloride channel accessory trong>betatrong> subunit
This gene encodes an essential trong>betatrong> subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secrettrong>introng>g epithelia of the trong>introng>ner ear. Mutations trong>introng> this gene have been associated with Bartter syndrome with sensortrong>introng>eural deafness. [provided by RefSeq, Jul 2008]
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trong>introng>hibitor of kappa light polypeptide gene enhancer trong>introng> B-cells, ktrong>introng>ase trong>betatrong>
The protetrong>introng> encoded by this gene phosphorylates the trong>introng>hibitor trong>introng> the trong>introng>hibitor/NF-kappa-B complex, caustrong>introng>g dissociation of the trong>introng>hibitor and activation of NF-kappa-B. The encoded protetrong>introng> itself is found trong>introng> a complex of protetrong>introng>s. Several transcript variants, some protetrong>introng>-codtrong>introng>g and some not, have been found for this gene. [provided by RefSeq, Sep 2011]
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trong>introng>tegrtrong>introng> trong>betatrong> 1 btrong>introng>dtrong>introng>g protetrong>introng> 1 pseudogene
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sodium channel, voltage gated, type II trong>betatrong> subunit
The protetrong>introng> encoded by this gene is the trong>betatrong> 2 subunit of the type II voltage-gated sodium channel. The encoded protetrong>introng> is trong>introng>volved trong>introng> cell-cell adhesion and cell migration. Defects trong>introng> this gene can be a cause of Brugada Syndrome, atrial fibrillation, or sudden trong>introng>fant death syndrome. [provided by RefSeq, Jul 2015]
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protetrong>introng> phosphatase 3, regulatory subunit B, trong>betatrong>
Enables calcium-dependent protetrong>introng> sertrong>introng>e/threontrong>introng>e phosphatase regulator activity. Predicted to be trong>introng>volved trong>introng> calctrong>introng>eurtrong>introng>-mediated signaltrong>introng>g. Predicted to act upstream of or withtrong>introng> penetration of zona pellucida. Predicted to be located trong>introng> mitochondrion and sperm mitochondrial sheath. Predicted to be part of calctrong>introng>eurtrong>introng> complex. [provided by Alliance of Genome Resources, Mar 2025]
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ALG1, chitobiosyldiphosphodolichol trong>betatrong>-mannosyltransferase-like 2
Predicted to enable mannosyltransferase activity. Predicted to be trong>introng>volved trong>introng> protetrong>introng> glycosylation. Predicted to be active trong>introng> endoplasmic reticulum. [provided by Alliance of Genome Resources, Mar 2025]
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DnaJ (Hsp40) homolog, subfamily C, member 5 trong>betatrong>
This gene encodes a member of the DNAJ heat shock protetrong>introng> 40 family of co-chaperone protetrong>introng>s that is characterized by an N-termtrong>introng>al DNAJ domatrong>introng>, a ltrong>introng>ker region, and a cystetrong>introng>e-rich C-termtrong>introng>al domatrong>introng>. The encoded protetrong>introng>, together with heat shock protetrong>introng> 70, is thought to regulate the proper foldtrong>introng>g of other protetrong>introng>s. The orthologous mouse protetrong>introng> is membrane-associated and is targeted to the trans-golgi network. [provided by RefSeq, Mar 2017]
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taxiltrong>introng> trong>betatrong>
Predicted to enable syntaxtrong>introng> btrong>introng>dtrong>introng>g activity. Located trong>introng> cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]
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phosphodiesterase 6B, cGMP-specific, rod, trong>betatrong>
Photon absorption triggers a signaltrong>introng>g cascade trong>introng> rod phototrong>receptortrong>s that activates cGMP phosphodiesterase (PDE), resulttrong>introng>g trong>introng> the rapid hydrolysis of cGMP, closure of cGMP-gated cation channels, and hyperpolarization of the cell. PDE is a peripheral membrane heterotrimeric enzyme made up of alpha, trong>betatrong>, and gamma subunits. This gene encodes the trong>betatrong> subunit. Mutations trong>introng> this gene result trong>introng> rettrong>introng>itis pigmentosa and autosomal domtrong>introng>ant congenital stationary night bltrong>introng>dness. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
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succtrong>introng>ate-CoA ligase, ADP-formtrong>introng>g, trong>betatrong> subunit
Succtrong>introng>yl-CoA synthetase (SCS) is a mitochondrial matrix enzyme that acts as a heterodimer, betrong>introng>g composed of an trong>introng>variant alpha subunit and a substrate-specific trong>betatrong> subunit. The protetrong>introng> encoded by this gene is an ATP-specific SCS trong>betatrong> subunit that dimerizes with the SCS alpha subunit to form SCS-A, an essential component of the tricarboxylic acid cycle. SCS-A hydrolyzes ATP to convert succtrong>introng>ate to succtrong>introng>yl-CoA. Defects trong>introng> this gene are a cause of myopathic mitochondrial DNA depletion syndrome. A pseudogene of this gene has been found on chromosome 6. [provided by RefSeq, Jul 2008]
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core 1 synthase, glycoprotetrong>introng>-N-acetylgalactosamtrong>introng>e 3-trong>betatrong>-galactosyltransferase 1 pseudogene 1
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tubultrong>introng>, trong>betatrong> 3 class III pseudogene 2
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defenstrong>introng>, trong>betatrong> 103B
Defenstrong>introng>s form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defenstrong>introng> family are highly similar trong>introng> protetrong>introng> sequence. This gene encodes defenstrong>introng>, trong>betatrong> 103, which has broad spectrum antimicrobial activity and may play an important role trong>introng> trong>introng>nate epithelial defense. [provided by RefSeq, Oct 2014]
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defenstrong>introng>, trong>betatrong> 103A
Defenstrong>introng>s form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defenstrong>introng> family are highly similar trong>introng> protetrong>introng> sequence. This gene encodes defenstrong>introng>, trong>betatrong> 103, an antibiotic peptide which is trong>introng>duced by bacteria and trong>introng>terferon gamma, and which displays antimicrobial activity agatrong>introng>st S. aureus, S. pyogenes, P. aerugtrong>introng>osa, E. coli, and C. albicans. [provided by RefSeq, Oct 2014]
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trong>introng>hibtrong>introng>, trong>betatrong> A
This gene encodes a member of the TGF-trong>betatrong> (transformtrong>introng>g growth factor-trong>betatrong>) superfamily of protetrong>introng>s. The encoded preproprotetrong>introng> is proteolytically processed to generate a subunit of the dimeric activtrong>introng> and trong>introng>hibtrong>introng> protetrong>introng> complexes. These complexes activate and trong>introng>hibit, respectively, follicle stimulattrong>introng>g hormone secretion from the pituitary gland. The encoded protetrong>introng> also plays a role trong>introng> eye, tooth and testis development. Elevated expression of this gene may be associated with cancer cachexia trong>introng> human patients. [provided by RefSeq, Aug 2016]
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trong>introng>hibtrong>introng>, trong>betatrong> B
This gene encodes a member of the TGF-trong>betatrong> (transformtrong>introng>g growth factor-trong>betatrong>) superfamily of protetrong>introng>s. The encoded preproprotetrong>introng> is proteolytically processed to generate a subunit of the dimeric activtrong>introng> and trong>introng>hibtrong>introng> protetrong>introng> complexes. These complexes activate and trong>introng>hibit, respectively, follicle stimulattrong>introng>g hormone secretion from the pituitary gland. Polymorphisms near this gene are associated with pre-eclampsia trong>introng> female human patients. [provided by RefSeq, Aug 2016]
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trong>introng>hibtrong>introng>, trong>betatrong> C
This gene encodes a member of the TGF-trong>betatrong> (transformtrong>introng>g growth factor-trong>betatrong>) superfamily of protetrong>introng>s. The encoded preproprotetrong>introng> is proteolytically processed to generate a subunit of homodimeric and heterodimeric activtrong>introng> complexes. The heterodimeric complex may function trong>introng> the trong>introng>hibition of activtrong>introng> A signaltrong>introng>g. Transgenic mice overexpresstrong>introng>g this gene exhibit defects trong>introng> testis, liver and prostate. [provided by RefSeq, Aug 2016]
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trong>introng>hibtrong>introng>, trong>betatrong> E
This gene encodes a member of the TGF-trong>betatrong> (transformtrong>introng>g growth factor-trong>betatrong>) superfamily of protetrong>introng>s. The encoded preproprotetrong>introng> is proteolytically processed to generate an trong>introng>hibtrong>introng> trong>betatrong> subunit. trong>Introng>hibtrong>introng>s have been implicated trong>introng> regulattrong>introng>g numerous cellular processes trong>introng>cludtrong>introng>g cell proliferation, apoptosis, immune response and hormone secretion. This gene may be upregulated under conditions of endoplasmic reticulum stress, and this protetrong>introng> may trong>introng>hibit cellular proliferation and growth trong>introng> pancreas and liver. [provided by RefSeq, Sep 2016]
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thyroid stimulattrong>introng>g hormone, trong>betatrong>
The four human glycoprotetrong>introng> hormones chorionic gonadotroptrong>introng> (CG), lutetrong>introng>iztrong>introng>g hormone (LH), follicle stimulattrong>introng>g hormone (FSH), and thyroid stimulattrong>introng>g hormone (TSH) are dimers consisttrong>introng>g of alpha and trong>betatrong> subunits that are associated noncovalently. The alpha subunits of these hormones are identical, however, their trong>betatrong> trong>chatrong>introng>trong>s are unique and confer biological specificity. Thyroid stimulattrong>introng>g hormone functions trong>introng> the control of thyroid structure and metabolism. The protetrong>introng> encoded by this gene is the trong>betatrong> subunit of thyroid stimulattrong>introng>g hormone. Mutations trong>introng> this gene are associated with congenital central and secondary hypothyroidism and Hashimoto's thyroiditis. Alternative splictrong>introng>g of this gene results trong>introng> multiple transcript variants. [provided by RefSeq, May 2013]
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adaptor-related protetrong>introng> complex 1, trong>betatrong> 1 subunit pseudogene 1
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adaptor-related protetrong>introng> complex 1, trong>betatrong> 1 subunit pseudogene 2
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tubultrong>introng>, trong>betatrong> 7, pseudogene
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eukaryotic translation trong>introng>itiation factor 2B, subunit 2 trong>betatrong>, 39kDa
This gene encodes the trong>betatrong> subunit of eukaryotic trong>introng>itiation factor-2B (EIF2B). EIF2B is trong>introng>volved trong>introng> protetrong>introng> synthesis and exchanges GDP and GTP for its activation and deactivation. [provided by RefSeq, Aug 2011]
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acttrong>introng>, trong>betatrong> pseudogene 14
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trong>Betatrong>-adrenergic stimulation, response to
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peptidase (mitochondrial processtrong>introng>g) trong>betatrong>
This gene is a member of the peptidase M16 family and encodes a protetrong>introng> with a ztrong>introng>c-btrong>introng>dtrong>introng>g motif. This protetrong>introng> is located trong>introng> the mitochondrial matrix and catalyzes the cleavage of the leader peptides of precursor protetrong>introng>s newly imported trong>introng>to the mitochondria, though it only functions as part of a heterodimeric complex. [provided by RefSeq, Jul 2008]
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meprtrong>introng> A, trong>betatrong>
Meprtrong>introng>s are multidomatrong>introng> ztrong>introng>c metalloproteases that are highly expressed trong>introng> mammalian kidney and trong>introng>testtrong>introng>al brush border membranes, and trong>introng> leukocytes and certatrong>introng> cancer cells. They are trong>introng>volved trong>introng> the hydrolysis of a variety of peptide and protetrong>introng> substrates, and have been implicated trong>introng> cancer and trong>introng>testtrong>introng>al trong>introng>flammation. Mature meprtrong>introng>s are oligomers of evolutionarily related, but separately encoded alpha and/or trong>betatrong> subunits. Homooligomers of alpha subunit are secreted, whereas, oligomers contatrong>introng>trong>introng>g the trong>betatrong> subunit are plasma membrane-bound. This gene encodes the trong>betatrong> subunit. Targeted disruption of this gene trong>introng> mice affects embryonic viability, renal gene expression profiles, and distribution of the membrane-associated alpha subunit trong>introng> kidney and trong>introng>testtrong>introng>e. [provided by RefSeq, Oct 2011]
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Rho GDP dissociation trong>introng>hibitor (GDI) trong>betatrong>
Members of the Rho (or ARH) protetrong>introng> family (see MIM 165390) and other Ras-related small GTP-btrong>introng>dtrong>introng>g protetrong>introng>s (see MIM 179520) are trong>introng>volved trong>introng> diverse cellular events, trong>introng>cludtrong>introng>g cell signaltrong>introng>g, proliferation, cytoskeletal organization, and secretion. The GTP-btrong>introng>dtrong>introng>g protetrong>introng>s are active only trong>introng> the GTP-bound state. At least 3 classes of protetrong>introng>s tightly regulate cycltrong>introng>g between the GTP-bound and GDP-bound states: GTPase-activattrong>introng>g protetrong>introng>s (GAPs), guantrong>introng>e nucleotide-releastrong>introng>g factors (GRFs), and GDP-dissociation trong>introng>hibitors (GDIs). The GDIs, trong>introng>cludtrong>introng>g ARHGDIB, decrease the rate of GDP dissociation from Ras-like GTPases (summary by Scherle et al., 1993 [PubMed 8356058]).[supplied by OMIM, Dec 2010]
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mannosidase, trong>betatrong> A, lysosomal-like pseudogene
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DNA (cytostrong>introng>e-5-)-methyltransferase 3 trong>betatrong>
CpG methylation is an epigenetic modification that is important for embryonic development, imprtrong>introng>ttrong>introng>g, and X-chromosome trong>introng>activation. Studies trong>introng> mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function trong>introng> de novo methylation, rather than matrong>introng>tenance methylation. The protetrong>introng> localizes primarily to the nucleus and its expression is developmentally regulated. Mutations trong>introng> this gene cause the immunodeficiency-centromeric trong>introng>stability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determtrong>introng>ed. [provided by RefSeq, May 2011]
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tubultrong>introng>, trong>betatrong> 4A class IVa pseudogene 1
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NADH dehydrogenase (ubiqutrong>introng>one) 1 trong>betatrong> subcomplex, 4, 15kDa pseudogene
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trong>introng>terleuktrong>introng> 36, trong>betatrong>
The protetrong>introng> encoded by this gene is a member of the trong>introng>terleuktrong>introng> 1 cytoktrong>introng>e family. Protetrong>introng> structure modeltrong>introng>g trong>introng>dicated that this cytoktrong>introng>e may contatrong>introng> a 12-stranded trong>betatrong>-trefoil structure that is conserved between IL1A (IL-A alpha) and IL1B (IL-1 trong>betatrong>). This gene and eight other trong>introng>terleuktrong>introng> 1 family genes form a cytoktrong>introng>e gene cluster on chromosome 2. Two alternatively spliced transcript variants encodtrong>introng>g disttrong>introng>ct isoforms have been reported. [provided by RefSeq, Jul 2008]
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adaptor-related protetrong>introng> complex 1, trong>betatrong> 1 subunit
Adaptor protetrong>introng> complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrtrong>introng> to the membrane and the recognition of sorttrong>introng>g signals withtrong>introng> the cytosolic tails of transmembrane trong>receptortrong>s. This complex is a heterotetramer composed of two large, one medium, and one small adapttrong>introng> subunit. The protetrong>introng> encoded by this gene serves as one of the large subunits of this complex and is a member of the adapttrong>introng> protetrong>introng> family. This gene is a candidate mentrong>introng>gioma gene. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Oct 2009]
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general transcription factor IIIC, polypeptide 2, trong>betatrong> 110kDa
Enables RNA polymerase III general transcription trong>introng>itiation factor activity. Contributes to DNA btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> transcription by RNA polymerase III. Located trong>introng> nucleoplasm. Part of transcription factor TFIIIC complex. [provided by Alliance of Genome Resources, Mar 2025]
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protetrong>introng> phosphatase 2, regulatory subunit B', trong>betatrong>
The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protetrong>introng> phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated trong>introng> the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a trong>betatrong> isoform of the regulatory subunit B56 subfamily. [provided by RefSeq, Jul 2008]
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aspartate trong>betatrong>-hydroxylase domatrong>introng> contatrong>introng>trong>introng>g 2
Predicted to enable dioxygenase activity and metal ion btrong>introng>dtrong>introng>g activity. Located trong>introng> membrane. [provided by Alliance of Genome Resources, Mar 2025]
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aspartate trong>betatrong>-hydroxylase domatrong>introng> contatrong>introng>trong>introng>g 1
Predicted to enable dioxygenase activity. Predicted to be located trong>introng> membrane. [provided by Alliance of Genome Resources, Mar 2025]
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protocadhertrong>introng> trong>betatrong> 14
This gene is a member of the protocadhertrong>introng> trong>betatrong> gene cluster, one of three related gene clusters tandemly ltrong>introng>ked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell trong>receptortrong> gene clusters. The trong>betatrong> cluster contatrong>introng>s 16 genes and 3 pseudogenes, each encodtrong>introng>g 6 extracellular cadhertrong>introng> domatrong>introng>s and a cytoplasmic tail that deviates from others trong>introng> the cadhertrong>introng> superfamily. The extracellular domatrong>introng>s trong>introng>teract trong>introng> a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not shartrong>introng>g common 3' exons as expected. These neural cadhertrong>introng>-like cell adhesion protetrong>introng>s are trong>introng>tegral plasma membrane protetrong>introng>s. Their specific functions are unknown but they most likely play a critical role trong>introng> the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]
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protocadhertrong>introng> trong>betatrong> 13
This gene is a member of the protocadhertrong>introng> trong>betatrong> gene cluster, one of three related gene clusters tandemly ltrong>introng>ked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell trong>receptortrong> gene clusters. The trong>betatrong> cluster contatrong>introng>s 16 genes and 3 pseudogenes, each encodtrong>introng>g 6 extracellular cadhertrong>introng> domatrong>introng>s and a cytoplasmic tail that deviates from others trong>introng> the cadhertrong>introng> superfamily. The extracellular domatrong>introng>s trong>introng>teract trong>introng> a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not shartrong>introng>g common 3' exons as expected. These neural cadhertrong>introng>-like cell adhesion protetrong>introng>s are trong>introng>tegral plasma membrane protetrong>introng>s. Their specific functions are unknown but they most likely play a critical role trong>introng> the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]
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protocadhertrong>introng> trong>betatrong> 12
This gene is a member of the protocadhertrong>introng> trong>betatrong> gene cluster, one of three related gene clusters tandemly ltrong>introng>ked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell trong>receptortrong> gene clusters. The trong>betatrong> cluster contatrong>introng>s 16 genes and 3 pseudogenes, each encodtrong>introng>g 6 extracellular cadhertrong>introng> domatrong>introng>s and a cytoplasmic tail that deviates from others trong>introng> the cadhertrong>introng> superfamily. The extracellular domatrong>introng>s trong>introng>teract trong>introng> a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not shartrong>introng>g common 3' exons as expected. These neural cadhertrong>introng>-like cell adhesion protetrong>introng>s are trong>introng>tegral plasma membrane protetrong>introng>s. Their specific functions are unknown but they most likely play a critical role trong>introng> the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]
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protocadhertrong>introng> trong>betatrong> 11
This gene is a member of the protocadhertrong>introng> trong>betatrong> gene cluster, one of three related gene clusters tandemly ltrong>introng>ked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell trong>receptortrong> gene clusters. The trong>betatrong> cluster contatrong>introng>s 16 genes and 3 pseudogenes, each encodtrong>introng>g 6 extracellular cadhertrong>introng> domatrong>introng>s and a cytoplasmic tail that deviates from others trong>introng> the cadhertrong>introng> superfamily. The extracellular domatrong>introng>s trong>introng>teract trong>introng> a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not shartrong>introng>g common 3' exons as expected. These neural cadhertrong>introng>-like cell adhesion protetrong>introng>s are trong>introng>tegral plasma membrane protetrong>introng>s. Their specific functions are unknown but they most likely play a critical role trong>introng> the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]
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protocadhertrong>introng> trong>betatrong> 10
This gene is a member of the protocadhertrong>introng> trong>betatrong> gene cluster, one of three related gene clusters tandemly ltrong>introng>ked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell trong>receptortrong> gene clusters. The trong>betatrong> cluster contatrong>introng>s 16 genes and 3 pseudogenes, each encodtrong>introng>g 6 extracellular cadhertrong>introng> domatrong>introng>s and a cytoplasmic tail that deviates from others trong>introng> the cadhertrong>introng> superfamily. The extracellular domatrong>introng>s trong>introng>teract trong>introng> a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not shartrong>introng>g common 3' exons as expected. These neural cadhertrong>introng>-like cell adhesion protetrong>introng>s are trong>introng>tegral plasma membrane protetrong>introng>s. Their specific functions are unknown but they most likely play a critical role trong>introng> the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]
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protocadhertrong>introng> trong>betatrong> 16
This gene is a member of the protocadhertrong>introng> trong>betatrong> gene cluster, one of three related gene clusters tandemly ltrong>introng>ked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell trong>receptortrong> gene clusters. The trong>betatrong> cluster contatrong>introng>s 16 genes and 3 pseudogenes, each encodtrong>introng>g 6 extracellular cadhertrong>introng> domatrong>introng>s and a cytoplasmic tail that deviates from others trong>introng> the cadhertrong>introng> superfamily. The extracellular domatrong>introng>s trong>introng>teract trong>introng> a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not shartrong>introng>g common 3' exons as expected. These neural cadhertrong>introng>-like cell adhesion protetrong>introng>s are trong>introng>tegral plasma membrane protetrong>introng>s. Their specific functions are unknown but they most likely play a critical role trong>introng> the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]
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protocadhertrong>introng> trong>betatrong> 15
This gene is a member of the protocadhertrong>introng> trong>betatrong> gene cluster, one of three related gene clusters tandemly ltrong>introng>ked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell trong>receptortrong> gene clusters. The trong>betatrong> cluster contatrong>introng>s 16 genes and 3 pseudogenes, each encodtrong>introng>g 6 extracellular cadhertrong>introng> domatrong>introng>s and a cytoplasmic tail that deviates from others trong>introng> the cadhertrong>introng> superfamily. The extracellular domatrong>introng>s trong>introng>teract trong>introng> a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not shartrong>introng>g common 3' exons as expected. These neural cadhertrong>introng>-like cell adhesion protetrong>introng>s are trong>introng>tegral plasma membrane protetrong>introng>s. Their specific functions are unknown but they most likely play a critical role trong>introng> the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]
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latent transformtrong>introng>g growth factor trong>betatrong> btrong>introng>dtrong>introng>g protetrong>introng> 4
The protetrong>introng> encoded by this gene btrong>introng>ds transformtrong>introng>g growth factor trong>betatrong> (TGFB) as it is secreted and targeted to the extracellular matrix. TGFB is biologically latent after secretion and trong>introng>sertion trong>introng>to the extracellular matrix, and sheds TGFB and other protetrong>introng>s upon activation. Defects trong>introng> this gene may be a cause of cutis laxa and severe pulmonary, gastrotrong>introng>testtrong>introng>al, and urtrong>introng>ary abnormalities. Three transcript variants encodtrong>introng>g different isoforms have been found for this gene.[provided by RefSeq, May 2010]
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latent transformtrong>introng>g growth factor trong>betatrong> btrong>introng>dtrong>introng>g protetrong>introng> 3
The protetrong>introng> encoded by this gene forms a complex with transformtrong>introng>g growth factor trong>betatrong> (TGF-trong>betatrong>) protetrong>introng>s and may be trong>introng>volved trong>introng> their subcellular localization. Activation of this complex requires removal of the encoded btrong>introng>dtrong>introng>g protetrong>introng>. This protetrong>introng> also may play a structural role trong>introng> the extracellular matrix. Three transcript variants encodtrong>introng>g different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]
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latent transformtrong>introng>g growth factor trong>betatrong> btrong>introng>dtrong>introng>g protetrong>introng> 2
The protetrong>introng> encoded by this gene belongs to the family of latent transformtrong>introng>g growth factor (TGF)-trong>betatrong> btrong>introng>dtrong>introng>g protetrong>introng>s (LTBP), which are extracellular matrix protetrong>introng>s with multi-domatrong>introng> structure. This protetrong>introng> is the largest member of the LTBP family possesstrong>introng>g unique regions and with most similarity to the fibrilltrong>introng>s. It has thus been suggested that it may have multiple functions: as a member of the TGF-trong>betatrong> latent complex, as a structural component of microfibrils, and a role trong>introng> cell adhesion. [provided by RefSeq, Jul 2008]
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latent transformtrong>introng>g growth factor trong>betatrong> btrong>introng>dtrong>introng>g protetrong>introng> 1
The protetrong>introng> encoded by this gene belongs to the family of latent TGF-trong>betatrong> btrong>introng>dtrong>introng>g protetrong>introng>s (LTBPs). The secretion and activation of TGF-trong>betatrong>s is regulated by their association with latency-associated protetrong>introng>s and with latent TGF-trong>betatrong> btrong>introng>dtrong>introng>g protetrong>introng>s. The product of this gene targets latent complexes of transformtrong>introng>g growth factor trong>betatrong> to the extracellular matrix, where the latent cytoktrong>introng>e is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been identified. [provided by RefSeq, Jul 2008]
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defenstrong>introng>, trong>betatrong> 1
Defenstrong>introng>s form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defenstrong>introng> family are highly similar trong>introng> protetrong>introng> sequence. This gene encodes defenstrong>introng>, trong>betatrong> 1, an antimicrobial peptide implicated trong>introng> the resistance of epithelial surfaces to microbial colonization. This gene maps trong>introng> close proximity to defenstrong>introng> family member, defenstrong>introng>, alpha 1 and has been implicated trong>introng> the pathogenesis of cystic fibrosis. [provided by RefSeq, Jul 2008]
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glucuronidase, trong>betatrong>
This gene encodes a hydrolase that degrades glycosamtrong>introng>oglycans, trong>introng>cludtrong>introng>g heparan sulfate, dermatan sulfate, and chondroittrong>introng>-4,6-sulfate. The enzyme forms a homotetramer that is localized to the lysosome. Mutations trong>introng> this gene result trong>introng> mucopolysaccharidosis type VII. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. There are many pseudogenes of this locus trong>introng> the human genome.[provided by RefSeq, May 2014]
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pregnancy specific trong>betatrong>-1-glycoprotetrong>introng> 10, pseudogene
The human pregnancy-specific glycoprotetrong>introng>s (PSGs) are a group of molecules that are matrong>introng>ly produced by the placental syncytiotrophoblasts durtrong>introng>g pregnancy. PSGs comprise a subgroup of the carctrong>introng>oembryonic antigen (CEA) family, which belongs to the immunoglobultrong>introng> superfamily. For additional general trong>introng>formation about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009]
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phosphatidyltrong>introng>ositol 4-ktrong>introng>ase type 2 trong>betatrong> pseudogene
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farnesyltransferase, CAAX box, trong>betatrong>
Enables ztrong>introng>c ion btrong>introng>dtrong>introng>g activity. Contributes to protetrong>introng> farnesyltransferase activity. trong>Introng>volved trong>introng> protetrong>introng> farnesylation. Part of microtubule associated complex and protetrong>introng> farnesyltransferase complex. Implicated trong>introng> anxiety disorder. [provided by Alliance of Genome Resources, Mar 2025]
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NADH dehydrogenase (ubiqutrong>introng>one) 1 trong>betatrong> subcomplex, 5, 16kDa pseudogene
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phosphorylase ktrong>introng>ase, trong>betatrong> pseudogene 1
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phosphorylase ktrong>introng>ase, trong>betatrong> pseudogene 2
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trong>betatrong> globtrong>introng> locus transcript 3 (non-protetrong>introng> codtrong>introng>g)
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transductrong>introng> (trong>betatrong>)-like 1X-ltrong>introng>ked
The protetrong>introng> encoded by this gene has sequence similarity with members of the WD40 repeat-contatrong>introng>trong>introng>g protetrong>introng> family. The WD40 group is a large family of protetrong>introng>s, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protetrong>introng>-protetrong>introng> trong>introng>teractions and members of the family are trong>introng>volved trong>introng> signal transduction, RNA processtrong>introng>g, gene regulation, vesicular trafficktrong>introng>g, cytoskeletal assembly and may play a role trong>introng> the control of cytotypic differentiation. This encoded protetrong>introng> is found as a subunit trong>introng> corepressor SMRT (silenctrong>introng>g mediator for rettrong>introng>oid and thyroid trong>receptortrong>s) complex along with histone deacetylase 3 protetrong>introng>. This gene is located adjacent to the ocular albtrong>introng>ism gene and it is thought to be trong>introng>volved trong>introng> the pathogenesis of the ocular albtrong>introng>ism with late-onset sensortrong>introng>eural deafness phenotype. Four transcript variants encodtrong>introng>g two different isoforms have been found for this gene. This gene is highly similar to the Y chromosome TBL1Y gene. [provided by RefSeq, Nov 2008]
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transductrong>introng> (trong>betatrong>)-like 1, Y-ltrong>introng>ked
The protetrong>introng> encoded by this gene has sequence similarity with members of the WD40 repeat-contatrong>introng>trong>introng>g protetrong>introng> family. The WD40 group is a large family of protetrong>introng>s, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protetrong>introng>-protetrong>introng> trong>introng>teractions and members of the family are trong>introng>volved trong>introng> signal transduction, RNA processtrong>introng>g, gene regulation, vesicular trafficktrong>introng>g, cytoskeletal assembly and may play a role trong>introng> the control of cytotypic differentiation. This gene is highly similar to TBL1X gene trong>introng> nucleotide sequence and protetrong>introng> sequence, but the TBL1X gene is located on chromosome X and this gene is on chromosome Y. This gene has three alternatively spliced transcript variants encodtrong>introng>g the same protetrong>introng>. [provided by RefSeq, Jul 2008]
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calcitontrong>introng>-related polypeptide trong>betatrong>
Enables hormone activity. trong>Introng>volved trong>introng> calcitontrong>introng> gene-related peptide trong>receptortrong> signaltrong>introng>g pathway. Is active trong>introng> extracellular space. [provided by Alliance of Genome Resources, Mar 2025]
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CD79b molecule, immunoglobultrong>introng>-associated trong>betatrong>
The B lymphocyte antigen trong>receptortrong> is a multimeric complex that trong>introng>cludes the antigen-specific component, surface immunoglobultrong>introng> (Ig). Surface Ig non-covalently associates with two other protetrong>introng>s, Ig-alpha and Ig-trong>betatrong>, which are necessary for expression and function of the B-cell antigen trong>receptortrong>. This gene encodes the Ig-trong>betatrong> protetrong>introng> of the B-cell antigen component. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been described. [provided by RefSeq, Jul 2008]
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thymostrong>introng> trong>betatrong> 4, X-ltrong>introng>ked pseudogene 7
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thymostrong>introng> trong>betatrong> 4, X-ltrong>introng>ked pseudogene 5
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thymostrong>introng> trong>betatrong> 4, X-ltrong>introng>ked pseudogene 2
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thymostrong>introng> trong>betatrong> 4, X-ltrong>introng>ked pseudogene 1
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thymostrong>introng> trong>betatrong> 4, X-ltrong>introng>ked pseudogene 8
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trong>betatrong>-2-microglobultrong>introng> regulator
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tubultrong>introng>, trong>betatrong> 2B class IIb pseudogene 1
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TGF-trong>betatrong> activated ktrong>introng>ase 1/MAP3K7 btrong>introng>dtrong>introng>g protetrong>introng> 3
The product of this gene functions trong>introng> the NF-kappaB signal transduction pathway. The encoded protetrong>introng>, and the similar and functionally redundant protetrong>introng> MAP3K7IP2/TAB2, forms a ternary complex with the protetrong>introng> ktrong>introng>ase MAP3K7/TAK1 and either TRAF2 or TRAF6 trong>introng> response to stimulation with the pro-trong>introng>flammatory cytoktrong>introng>es TNF or IL-1. Subsequent MAP3K7/TAK1 ktrong>introng>ase activity triggers a signaltrong>introng>g cascade leadtrong>introng>g to activation of the NF-kappaB transcription factor. The human genome contatrong>introng>s a related pseudogene. Alternatively spliced transcript variants have been described, but their biological validity has not been determtrong>introng>ed. [provided by RefSeq, Jul 2008]
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TGF-trong>betatrong> activated ktrong>introng>ase 1/MAP3K7 btrong>introng>dtrong>introng>g protetrong>introng> 2
The protetrong>introng> encoded by this gene is an activator of MAP3K7/TAK1, which is required for for the IL-1 trong>introng>duced activation of nuclear factor kappaB and MAPK8/JNK. This protetrong>introng> forms a ktrong>introng>ase complex with TRAF6, MAP3K7 and TAB1, and it thus serves as an adaptor that ltrong>introng>ks MAP3K7 and TRAF6. This protetrong>introng>, along with TAB1 and MAP3K7, also participates trong>introng> the signal transduction trong>introng>duced by TNFSF11/RANKl through the activation of the trong>receptortrong> activator of NF-kappaB (TNFRSF11A/RANK), which may regulate the development and function of osteoclasts. Studies of the related mouse protetrong>introng> trong>introng>dicate that it functions to protect agatrong>introng>st liver damage caused by chemical stressors. Mutations trong>introng> this gene cause congenital heart defects, multiple types, 2 (CHTD2). Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, May 2014]
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TGF-trong>betatrong> activated ktrong>introng>ase 1/MAP3K7 btrong>introng>dtrong>introng>g protetrong>introng> 1
The protetrong>introng> encoded by this gene was identified as a regulator of the MAP ktrong>introng>ase ktrong>introng>ase ktrong>introng>ase MAP3K7/TAK1, which is known to mediate various trong>introng>tracellular signaltrong>introng>g pathways, such as those trong>introng>duced by TGF trong>betatrong>, trong>introng>terleuktrong>introng> 1, and WNT-1. This protetrong>introng> trong>introng>teracts and thus activates TAK1 ktrong>introng>ase. It has been shown that the C-termtrong>introng>al portion of this protetrong>introng> is sufficient for btrong>introng>dtrong>introng>g and activation of TAK1, while a portion of the N-termtrong>introng>us acts as a domtrong>introng>ant-negative trong>introng>hibitor of TGF trong>betatrong>, suggesttrong>introng>g that this protetrong>introng> may function as a mediator between TGF trong>betatrong> trong>receptortrong>s and TAK1. This protetrong>introng> can also trong>introng>teract with and activate the mitogen-activated protetrong>introng> ktrong>introng>ase 14 (MAPK14/p38alpha), and thus represents an alternative activation pathway, trong>introng> addition to the MAPKK pathways, which contributes to the biological responses of MAPK14 to various stimuli. Alternatively spliced transcript variants encodtrong>introng>g disttrong>introng>ct isoforms have been reported. [provided by RefSeq, Jul 2008]
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glucuronidase, trong>betatrong> pseudogene
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guantrong>introng>e nucleotide btrong>introng>dtrong>introng>g protetrong>introng> (G protetrong>introng>), trong>betatrong> polypeptide 2-like 1 pseudogene
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CDC42 btrong>introng>dtrong>introng>g protetrong>introng> ktrong>introng>ase trong>betatrong> (DMPK-like) pseudogene
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lactamase, trong>betatrong> 2
Enables RNA endonuclease activity; strong>introng>gle-stranded RNA btrong>introng>dtrong>introng>g activity; and ztrong>introng>c ion btrong>introng>dtrong>introng>g activity. Located trong>introng> mitochondrial matrix. [provided by Alliance of Genome Resources, Mar 2025]
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trong>betatrong>-transductrong>introng> repeat contatrong>introng>trong>introng>g E3 ubiquittrong>introng> protetrong>introng> ligase
This gene encodes a member of the F-box protetrong>introng> family which is characterized by an approximately 40 amtrong>introng>o acid motif, the F-box. The F-box protetrong>introng>s constitute one of the four subunits of ubiquittrong>introng> protetrong>introng> ligase complex called SCFs (SKP1-culltrong>introng>-F-box), which function trong>introng> phosphorylation-dependent ubiquittrong>introng>ation. The F-box protetrong>introng>s are divided trong>introng>to 3 classes: Fbws contatrong>introng>trong>introng>g WD-40 domatrong>introng>s, Fbls contatrong>introng>trong>introng>g leuctrong>introng>e-rich repeats, and Fbxs contatrong>introng>trong>introng>g either different protetrong>introng>-protetrong>introng> trong>introng>teraction modules or no recognizable motifs. The protetrong>introng> encoded by this gene belongs to the Fbws class; trong>introng> addition to an F-box, this protetrong>introng> contatrong>introng>s multiple WD-40 repeats. The encoded protetrong>introng> mediates degradation of CD4 via its trong>introng>teraction with HIV-1 Vpu. It has also been shown to ubiquittrong>introng>ate phosphorylated NFKBIA (nuclear factor of kappa light polypeptide gene enhancer trong>introng> B-cells trong>introng>hibitor, alpha), targettrong>introng>g it for degradation and thus activattrong>introng>g nuclear factor kappa-B. Alternatively spliced transcript variants have been described. A related pseudogene exists trong>introng> chromosome 6. [provided by RefSeq, Mar 2012]
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deoxyribonuclease II trong>betatrong>
The protetrong>introng> encoded by this gene shares considerable sequence similarity to, and is structurally related to DNase II. The latter is a well characterized endonuclease that catalyzes DNA hydrolysis trong>introng> the absence of divalent cations at acidic pH. Unlike DNase II which is ubiquitously expressed, expression of this gene product is restricted to the salivary gland and lungs. The gene has been localized to chromosome 1p22.3 adjacent (and trong>introng> opposite orientation) to the uricase pseudogene. Two transcript variants encodtrong>introng>g different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
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protetrong>introng> ktrong>introng>ase C, trong>betatrong>
Protetrong>introng> ktrong>introng>ase C (PKC) is a family of sertrong>introng>e- and threontrong>introng>e-specific protetrong>introng> ktrong>introng>ases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protetrong>introng> targets and are known to be trong>introng>volved trong>introng> diverse cellular signaltrong>introng>g pathways. PKC family members also serve as major trong>receptortrong>s for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a disttrong>introng>ct role trong>introng> cells. The protetrong>introng> encoded by this gene is one of the PKC family members. This protetrong>introng> ktrong>introng>ase has been reported to be trong>introng>volved trong>introng> many different cellular functions, such as B cell activation, apoptosis trong>introng>duction, endothelial cell proliferation, and trong>introng>testtrong>introng>al sugar absorption. Studies trong>introng> mice also suggest that this ktrong>introng>ase may also regulate neuronal functions and correlate fear-trong>introng>duced conflict behavior after stress. Alternatively spliced transcript variants encodtrong>introng>g disttrong>introng>ct isoforms have been reported. [provided by RefSeq, Jul 2008]
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potassium channel, voltage gated subfamily A regulatory trong>betatrong> subunit 1
Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpotrong>introng>ts. Their diverse functions trong>introng>clude regulattrong>introng>g neurotransmitter release, heart rate, trong>introng>sultrong>introng> secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified trong>introng> Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member trong>introng>cludes disttrong>introng>ct isoforms which are encoded by alternatively spliced transcript variants of this gene. Some of these isoforms are trong>betatrong> subunits, which form heteromultimeric complexes with alpha subunits and modulate the activity of the pore-formtrong>introng>g alpha subunits. [provided by RefSeq, Apr 2015]
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potassium channel, voltage gated subfamily A regulatory trong>betatrong> subunit 3
This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. The encoded protetrong>introng> is one of the trong>betatrong> subunits, which are auxiliary protetrong>introng>s associattrong>introng>g with functional Kv-alpha subunits. The encoded protetrong>introng> forms a heterodimer with the potassium voltage-gated channel, shaker-related subfamily, member 5 gene product and regulates the activity of the alpha subunit. [provided by RefSeq, May 2012]
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potassium channel, voltage gated subfamily A regulatory trong>betatrong> subunit 2
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpotrong>introng>ts. Their diverse functions trong>introng>clude regulattrong>introng>g neurotransmitter release, heart rate, trong>introng>sultrong>introng> secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified trong>introng> Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member is one of the trong>betatrong> subunits, which are auxiliary protetrong>introng>s associattrong>introng>g with functional Kv-alpha subunits. This member alters functional properties of the KCNA4 gene product. Alternative splictrong>introng>g of this gene results trong>introng> multiple transcript variants encodtrong>introng>g disttrong>introng>ct isoforms. [provided by RefSeq, Dec 2010]
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UDP-Gal:trong>betatrong>GlcNAc trong>betatrong> 1,4- galactosyltransferase, polypeptide 6
This gene is one of seven trong>betatrong>-1,4-galactosyltransferase (trong>betatrong>4GalT) genes trong>introng> human. They encode type II membrane-bound glycoprotetrong>introng>s that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose trong>introng> a trong>betatrong>1,4 ltrong>introng>kage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each trong>betatrong>4GalT has a disttrong>introng>ct function trong>introng> the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane protetrong>introng>s, they have an N-termtrong>introng>al hydrophobic signal sequence that directs the protetrong>introng> to the Golgi apparatus and which then rematrong>introng>s uncleaved to function as a transmembrane anchor. This gene produces multiple protetrong>introng> isoforms - some of which are predicted to lack the N-termtrong>introng>al hydrophobic signal sequence and transmembrane domatrong>introng>. By sequence similarity, the trong>betatrong>4GalTs form four groups: trong>betatrong>4GalT1 and trong>betatrong>4GalT2, trong>betatrong>4GalT3 and trong>betatrong>4GalT4, trong>betatrong>4GalT5 and trong>betatrong>4GalT6, and trong>betatrong>4GalT7. The canonical enzyme encoded by this gene is a lactosylceramide synthase important for glycolipid biosynthesis. [provided by RefSeq, Jan 2020]
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topoisomerase (DNA) III trong>betatrong>
This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA durtrong>introng>g transcription. This enzyme catalyzes the transient breaktrong>introng>g and rejotrong>introng>trong>introng>g of a strong>introng>gle strand of DNA which allows the strands to pass through one another, thus relaxtrong>introng>g the supercoils and altertrong>introng>g the topology of DNA. The enzyme trong>introng>teracts with DNA helicase SGS1 and plays a role trong>introng> DNA recombtrong>introng>ation, cellular agtrong>introng>g and matrong>introng>tenance of genome stability. Low expression of this gene may be related to higher survival rates trong>introng> breast cancer patients. This gene has a pseudogene on chromosome 22. Alternate splictrong>introng>g results trong>introng> multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Aug 2013]
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phosphatidyltrong>introng>ositol 4-ktrong>introng>ase type 2 trong>betatrong>
This gene encodes a member of the type II PI4 ktrong>introng>ase protetrong>introng> family. The encoded protetrong>introng> is primarily cytosolic and contributes to overall PI4-ktrong>introng>ase activity along with other protetrong>introng> family members. This protetrong>introng> is trong>introng>volved trong>introng> early T cell activation. [provided by RefSeq, Dec 2016]
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eukaryotic translation elongation factor 1 trong>betatrong> 2 pseudogene 8
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eukaryotic translation elongation factor 1 trong>betatrong> 2 pseudogene 1
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eukaryotic translation elongation factor 1 trong>betatrong> 2 pseudogene 3
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eukaryotic translation elongation factor 1 trong>betatrong> 2 pseudogene 2
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eukaryotic translation elongation factor 1 trong>betatrong> 2 pseudogene 5
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eukaryotic translation elongation factor 1 trong>betatrong> 2 pseudogene 6
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core-btrong>introng>dtrong>introng>g factor, trong>betatrong> subunit
The protetrong>introng> encoded by this gene is the trong>betatrong> subunit of a heterodimeric core-btrong>introng>dtrong>introng>g transcription factor belongtrong>introng>g to the PEBP2/CBF transcription factor family which master-regulates a host of genes specific to hematopoiesis (e.g., RUNX1) and osteogenesis (e.g., RUNX2). The trong>betatrong> subunit is a non-DNA btrong>introng>dtrong>introng>g regulatory subunit; it allosterically enhances DNA btrong>introng>dtrong>introng>g by alpha subunit as the complex btrong>introng>ds to the core site of various enhancers and promoters, trong>introng>cludtrong>introng>g murtrong>introng>e leukemia virus, polyomavirus enhancer, T-cell trong>receptortrong> enhancers and GM-CSF promoters. Alternative splictrong>introng>g generates two mRNA variants, each encodtrong>introng>g a disttrong>introng>ct carboxyl termtrong>introng>us. trong>Introng> some cases, a pericentric trong>introng>version of chromosome 16 [trong>introng>v(16)(p13q22)] produces a chimeric transcript consisttrong>introng>g of the N termtrong>introng>us of core-btrong>introng>dtrong>introng>g factor trong>betatrong> trong>introng> a fusion with the C-termtrong>introng>al portion of the smooth muscle myostrong>introng> heavy trong>chatrong>introng>trong> 11. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Two transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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defenstrong>introng>, trong>betatrong> 104B
Defenstrong>introng>s form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defenstrong>introng>s are short, processed peptide molecules that are classified by structure trong>introng>to three groups: alpha-defenstrong>introng>s, trong>betatrong>-defenstrong>introng>s and theta-defenstrong>introng>s. All trong>betatrong>-defenstrong>introng> genes are densely clustered trong>introng> four to five syntenic chromosomal regions. Chromosome 8p23 contatrong>introng>s at least two copies of the duplicated trong>betatrong>-defenstrong>introng> cluster. This duplication results trong>introng> two identical copies of defenstrong>introng>, trong>betatrong> 104, DEFB104A and DEFB104B, trong>introng> head-to-head orientation. This gene, DEFB104B, represents the more telomeric copy. [provided by RefSeq, Oct 2014]
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defenstrong>introng>, trong>betatrong> 104A
Defenstrong>introng>s form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defenstrong>introng>s are short, processed peptide molecules that are classified by structure trong>introng>to three groups: alpha-defenstrong>introng>s, trong>betatrong>-defenstrong>introng>s and theta-defenstrong>introng>s. All trong>betatrong>-defenstrong>introng> genes are densely clustered trong>introng> four to five syntenic chromosomal regions. Chromosome 8p23 contatrong>introng>s at least two copies of the duplicated trong>betatrong>-defenstrong>introng> cluster. This duplication results trong>introng> two identical copies of defenstrong>introng>, trong>betatrong> 104, DEFB104A and DEFB104B, trong>introng> head-to-head orientation. This gene, DEFB104A, represents the more centromeric copy. [provided by RefSeq, Oct 2014]
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phospholipase C, trong>betatrong> 1 (phosphotrong>introng>ositide-specific)
The protetrong>introng> encoded by this gene catalyzes the formation of trong>introng>ositol 1,4,5-trisphosphate and diacylglycerol from phosphatidyltrong>introng>ositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role trong>introng> the trong>introng>tracellular transduction of many extracellular signals. This gene is activated by two G-protetrong>introng> alpha subunits, alpha-q and alpha-11. Two transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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phospholipase C, trong>betatrong> 2
The protetrong>introng> encoded by this gene is a phosphodiesterase that catalyzes the hydrolysis of phosphatidyltrong>introng>ositol 4,5-bisphosphate to the second messengers trong>introng>ositol 1,4,5-trisphosphate (IP3) and diacylglycerol. The encoded protetrong>introng> is activated by G protetrong>introng>s and has been shown to be trong>introng>volved trong>introng> the type 2 taste trong>receptortrong> signal transduction pathway. trong>Introng> addition, nuclear factor kappa B can regulate the transcription of this gene, whose protetrong>introng> product is also an important regulator of platelet responses. [provided by RefSeq, Jan 2017]
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phospholipase C, trong>betatrong> 3 (phosphatidyltrong>introng>ositol-specific)
This gene encodes a member of the phosphotrong>introng>ositide phospholipase C trong>betatrong> enzyme family that catalyze the production of the secondary messengers diacylglycerol and trong>introng>ositol 1,4,5-triphosphate from phosphatidyltrong>introng>ositol trong>introng> G-protetrong>introng>-ltrong>introng>ked trong>receptortrong>-mediated signal transduction. Alternative splictrong>introng>g results trong>introng> multiple transcript variants.[provided by RefSeq, May 2010]
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phospholipase C, trong>betatrong> 4
The protetrong>introng> encoded by this gene catalyzes the formation of trong>introng>ositol 1,4,5-trisphosphate and diacylglycerol from phosphatidyltrong>introng>ositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role trong>introng> the trong>introng>tracellular transduction of many extracellular signals trong>introng> the rettrong>introng>a. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Feb 2010]
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UDP-GlcNAc:trong>betatrong>Gal trong>betatrong>-1,3-N-acetylglucosamtrong>introng>yltransferase 2 pseudogene 1
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NADH dehydrogenase (ubiqutrong>introng>one) 1, alpha/trong>betatrong> subcomplex, 1, 8kDa
Enables mitochondrial large ribosomal subunit btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> [2Fe-2S] cluster assembly; mitochondrial respiratory trong>chatrong>introng>trong> complex I assembly; and protetrong>introng> lipoylation. Located trong>introng> mitochondrion and nucleoplasm. Part of mitochondrial [2Fe-2S] assembly complex; mitochondrial trong>introng>ner membrane; and respiratory trong>chatrong>introng>trong> complex I. [provided by Alliance of Genome Resources, Mar 2025]
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tubultrong>introng>, trong>betatrong> 2A class IIa
Microtubules, key participants trong>introng> processes such as mitosis and trong>introng>tracellular transport, are composed of heterodimers of alpha- and trong>betatrong>-tubultrong>introng>s. The protetrong>introng> encoded by this gene is a trong>betatrong>-tubultrong>introng>. Defects trong>introng> this gene are associated with complex cortical dysplasia with other bratrong>introng> malformations-5. Two transcript variants encodtrong>introng>g disttrong>introng>ct isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
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tubultrong>introng>, trong>betatrong> 2B class IIb
The protetrong>introng> encoded by this gene is a trong>betatrong> isoform of tubultrong>introng>, which btrong>introng>ds GTP and is a major component of microtubules. This gene is highly similar to TUBB2A and TUBB2C. Defects trong>introng> this gene are a cause of asymmetric polymicrogyria. [provided by RefSeq, Mar 2010]
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proteasome (prosome, macropatrong>introng>) activator subunit 2 (PA28 trong>betatrong>)
The 26S proteasome is a multicatalytic protetrong>introng>ase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rtrong>introng>gs of 28 non-identical subunits; 2 rtrong>introng>gs are composed of 7 alpha subunits and 2 rtrong>introng>gs are composed of 7 trong>betatrong> subunits. The 19S regulator is composed of a base, which contatrong>introng>s 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contatrong>introng>s up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides trong>introng> an ATP/ubiquittrong>introng>-dependent process trong>introng> a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processtrong>introng>g of class I MHC peptides. The immunoproteasome contatrong>introng>s an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, trong>betatrong> and gamma) of the 11S regulator have been identified. This gene encodes the trong>betatrong> subunit of the 11S regulator, one of the two 11S subunits that is trong>introng>duced by gamma-trong>introng>terferon. Three trong>betatrong> and three alpha subunits combtrong>introng>e to form a heterohexameric rtrong>introng>g. Six pseudogenes have been identified on chromosomes 4, 5, 8, 10 and 13. [provided by RefSeq, Jul 2008]
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ST3 trong>betatrong>-galactoside alpha-2,3-sialyltransferase 1 pseudogene 1
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catentrong>introng>, trong>betatrong> like 1
The protetrong>introng> encoded by this gene is a component of the pre-mRNA-processtrong>introng>g factor 19-cell division cycle 5-like (PRP19-CDC5L) protetrong>introng> complex, which activates pre-mRNA splictrong>introng>g and is an trong>introng>tegral part of the spliceosome. The encoded protetrong>introng> is also a nuclear localization sequence btrong>introng>dtrong>introng>g protetrong>introng>, and btrong>introng>ds to activation-trong>introng>duced deamtrong>introng>ase and is important for antibody diversification. This gene may also be associated with the development of obesity. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. A pseudogene of this gene has been deftrong>introng>ed on the X chromosome. [provided by RefSeq, Jul 2013]
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casetrong>introng> trong>betatrong>
This gene is a member of the trong>betatrong> casetrong>introng> family. There are two types of casetrong>introng> protetrong>introng>, trong>betatrong> (encoded by this gene) and kappa, both of which are secreted trong>introng> human milk. trong>Betatrong> casetrong>introng> is the prtrong>introng>cipal protetrong>introng> trong>introng> human milk and the primary source of essential amtrong>introng>o acids for a suckltrong>introng>g trong>introng>fant. trong>Betatrong> and kappa casetrong>introng> protetrong>introng>s acttrong>introng>g together form spherical micelles which btrong>introng>d withtrong>introng> them important dietary mtrong>introng>erals, such as calcium and phosphorous. trong>Introng> addition, the C-termtrong>introng>al 14 aa of the protetrong>introng> has antimicrobial activity, especially trong>introng> preterm milk, displaytrong>introng>g antibacterial activity agatrong>introng>st S. aureus and Y. enterocolitica. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jul 2020]
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phosphatidyltrong>introng>ositol-4,5-bisphosphate 3-ktrong>introng>ase, catalytic subunit trong>betatrong>
This gene encodes an isoform of the catalytic subunit of phosphotrong>introng>ositide 3-ktrong>introng>ase (PI3K). These ktrong>introng>ases are important trong>introng> signaltrong>introng>g pathways trong>introng>volvtrong>introng>g trong>receptortrong>s on the outer membrane of eukaryotic cells and are named for their catalytic subunit. The encoded protetrong>introng> is the catalytic subunit for PI3Ktrong>betatrong> (PI3KB). PI3KB has been shown to be part of the activation pathway trong>introng> neutrophils which have bound immune complexes at sites of trong>introng>jury or trong>introng>fection. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Dec 2011]
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defenstrong>introng>, trong>betatrong> 130-like
Predicted to enable CCR6 chemoktrong>introng>e trong>receptortrong> btrong>introng>dtrong>introng>g activity and chemoattractant activity. Predicted to be trong>introng>volved trong>introng> cell chemotaxis and defense response to bacterium. Located trong>introng> cytosol. [provided by Alliance of Genome Resources, Mar 2025]
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ST3 trong>betatrong>-galactoside alpha-2,3-sialyltransferase 3
The protetrong>introng> encoded by this gene is a type II membrane protetrong>introng> that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-contatrong>introng>trong>introng>g substrates. The encoded protetrong>introng> is normally found trong>introng> the Golgi apparatus but can be proteolytically processed to a soluble form. This protetrong>introng> is a member of glycosyltransferase family 29. Mutations trong>introng> this gene have been associated with a form of autosomal recessive nonsymdromic cognitive disability as well as trong>introng>fantile epileptic encephalopathy. Multiple transcript variants encodtrong>introng>g several different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
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ST3 trong>betatrong>-galactoside alpha-2,3-sialyltransferase 2
The protetrong>introng> encoded by this gene is a type II membrane protetrong>introng> that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-contatrong>introng>trong>introng>g substrates. The encoded protetrong>introng> is normally found trong>introng> the Golgi but can be proteolytically processed to a soluble form. This protetrong>introng>, which is a member of glycosyltransferase family 29, can use the same acceptor substrates as does sialyltransferase 4A. [provided by RefSeq, Jul 2008]
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ST3 trong>betatrong>-galactoside alpha-2,3-sialyltransferase 1
The protetrong>introng> encoded by this gene is a type II membrane protetrong>introng> that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-contatrong>introng>trong>introng>g substrates. The encoded protetrong>introng> is normally found trong>introng> the Golgi but can be proteolytically processed to a soluble form. Correct glycosylation of the encoded protetrong>introng> may be critical to its sialyltransferase activity. This protetrong>introng>, which is a member of glycosyltransferase family 29, can use the same acceptor substrates as does sialyltransferase 4B. Two transcript variants encodtrong>introng>g the same protetrong>introng> have been found for this gene. Other transcript variants may exist, but have not been fully characterized yet. [provided by RefSeq, Jul 2008]
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ST3 trong>betatrong>-galactoside alpha-2,3-sialyltransferase 6
The protetrong>introng> encoded by this gene is a member of the sialyltransferase family. Members of this family are enzymes that transfer sialic acid from the activated cytidtrong>introng>e 5'-monophospho-N-acetylneuramtrong>introng>ic acid to termtrong>introng>al positions on sialylated glycolipids (gangliosides) or to the N- or O-ltrong>introng>ked sugar trong>chatrong>introng>trong>s of glycoprotetrong>introng>s. This protetrong>introng> has high specificity for neolactotetraosylceramide and neolactohexaosylceramide as glycolipid substrates and may contribute to the formation of selecttrong>introng> ligands and sialyl Lewis X, a carbohydrate important for cell-to-cell recognition and a blood group antigen. [provided by RefSeq, Apr 2016]
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ST3 trong>betatrong>-galactoside alpha-2,3-sialyltransferase 5
Ganglioside GM3 is known to participate trong>introng> the trong>introng>duction of cell differentiation, modulation of cell proliferation, matrong>introng>tenance of fibroblast morphology, signal transduction, and trong>introng>tegrtrong>introng>-mediated cell adhesion. The protetrong>introng> encoded by this gene is a type II membrane protetrong>introng> which catalyzes the formation of GM3 ustrong>introng>g lactosylceramide as the substrate. The encoded protetrong>introng> is a member of glycosyltransferase family 29 and may be localized to the Golgi apparatus. Mutation trong>introng> this gene has been associated with Amish trong>introng>fantile epilepsy syndrome. Transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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ST3 trong>betatrong>-galactoside alpha-2,3-sialyltransferase 4
This gene encodes a member of the glycosyltransferase 29 family, a group of enzymes trong>introng>volved trong>introng> protetrong>introng> glycosylation. The encoded protetrong>introng> is targeted to Golgi membranes but may be proteolytically processed and secreted. The gene product may also be trong>introng>volved trong>introng> the trong>introng>creased expression of sialyl Lewis X antigen seen trong>introng> trong>introng>flammatory responses. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
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adaptor-related protetrong>introng> complex 3, trong>betatrong> 1 subunit
This gene encodes a protetrong>introng> that may play a role trong>introng> organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protetrong>introng> is part of the heterotetrameric AP-3 protetrong>introng> complex which trong>introng>teracts with the scaffoldtrong>introng>g protetrong>introng> clathrtrong>introng>. Mutations trong>introng> this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]
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adaptor-related protetrong>introng> complex 3, trong>betatrong> 2 subunit
Adaptor protetrong>introng> complex 3 (AP-3 complex) is a heterotrimeric protetrong>introng> complex trong>introng>volved trong>introng> the formation of clathrtrong>introng>-coated synaptic vesicles. The protetrong>introng> encoded by this gene represents the trong>betatrong> subunit of the neuron-specific AP-3 complex and was first identified as the target antigen trong>introng> human paraneoplastic neurologic disorders. The encoded subunit btrong>introng>ds clathrtrong>introng> and is phosphorylated by a casetrong>introng> ktrong>introng>ase-like protetrong>introng>, which mediates synaptic vesicle coat assembly. Defects trong>introng> this gene are a cause of early-onset epileptic encephalopathy. [provided by RefSeq, Feb 2017]
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protetrong>introng> phosphatase 1, catalytic subunit, trong>betatrong> isozyme
The protetrong>introng> encoded by this gene is one of the three catalytic subunits of protetrong>introng> phosphatase 1 (PP1). PP1 is a sertrong>introng>e/threontrong>introng>e specific protetrong>introng> phosphatase known to be trong>introng>volved trong>introng> the regulation of a variety of cellular processes, such as cell division, glycogen metabolism, muscle contractility, protetrong>introng> synthesis, and HIV-1 viral transcription. Mouse studies suggest that PP1 functions as a suppressor of learntrong>introng>g and memory. Two alternatively spliced transcript variants encodtrong>introng>g disttrong>introng>ct isoforms have been observed. [provided by RefSeq, Jul 2008]
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protetrong>introng> phosphatase 2, catalytic subunit, trong>betatrong> isozyme
This gene encodes the phosphatase 2A catalytic subunit. Protetrong>introng> phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated trong>introng> the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. This gene encodes a trong>betatrong> isoform of the catalytic subunit. [provided by RefSeq, Mar 2010]
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sertrong>introng>e/threontrong>introng>e-protetrong>introng> phosphatase 2A regulatory subunit B'' subunit trong>betatrong>
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succtrong>introng>ate-CoA ligase, GDP-formtrong>introng>g, trong>betatrong> subunit pseudogene 4
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succtrong>introng>ate-CoA ligase, GDP-formtrong>introng>g, trong>betatrong> subunit pseudogene 2
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succtrong>introng>ate-CoA ligase, GDP-formtrong>introng>g, trong>betatrong> subunit pseudogene 3
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succtrong>introng>ate-CoA ligase, GDP-formtrong>introng>g, trong>betatrong> subunit pseudogene 1
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general transcription factor IIE, polypeptide 2, trong>betatrong> 34kDa
The general transcription factor IIE (TFIIE) is part of the RNA polymerase II transcription trong>introng>itiation complex, recruittrong>introng>g TFIIH and betrong>introng>g essential for promoter clearance by RNA polymerase II. TFIIE is a heterodimer (and sometimes heterotetramer) of alpha and trong>betatrong> subunits. The protetrong>introng> encoded by this gene represents the trong>betatrong> subunit of TFIIE. [provided by RefSeq, Jan 2017]
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tubultrong>introng>, trong>betatrong> 8 class VIII pseudogene 9
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tubultrong>introng>, trong>betatrong> 8 class VIII pseudogene 4
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tubultrong>introng>, trong>betatrong> 8 class VIII pseudogene 6
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tubultrong>introng>, trong>betatrong> 8 class VIII pseudogene 7
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tubultrong>introng> trong>betatrong> 8 class VIII pseudogene 1
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tubultrong>introng> trong>betatrong> 8 class VIII pseudogene 3
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lymphotoxtrong>introng> trong>betatrong> (TNF superfamily, member 3)
Lymphotoxtrong>introng> trong>betatrong> is a type II membrane protetrong>introng> of the TNF family. It anchors lymphotoxtrong>introng>-alpha to the cell surface through heterotrimer formation. The predomtrong>introng>ant form on the lymphocyte surface is the lymphotoxtrong>introng>-alpha 1/trong>betatrong> 2 complex (e.g. 1 molecule alpha/2 molecules trong>betatrong>) and this complex is the primary ligand for the lymphotoxtrong>introng>-trong>betatrong> trong>receptortrong>. The mtrong>introng>or complex is lymphotoxtrong>introng>-alpha 2/trong>betatrong> 1. LTB is an trong>introng>ducer of the trong>introng>flammatory response system and trong>introng>volved trong>introng> normal development of lymphoid tissue. Lymphotoxtrong>introng>-trong>betatrong> isoform b is unable to complex with lymphotoxtrong>introng>-alpha suggesttrong>introng>g a function for lymphotoxtrong>introng>-trong>betatrong> which is trong>introng>dependent of lympyhotoxtrong>introng>-alpha. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g different isoforms. [provided by RefSeq, Jul 2008]
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protetrong>introng> tyrostrong>introng>e ktrong>introng>ase 2 trong>betatrong>
This gene encodes a cytoplasmic protetrong>introng> tyrostrong>introng>e ktrong>introng>ase which is trong>introng>volved trong>introng> calcium-trong>introng>duced regulation of ion channels and activation of the map ktrong>introng>ase signaltrong>introng>g pathway. The encoded protetrong>introng> may represent an important signaltrong>introng>g trong>introng>termediate between neuropeptide-activated trong>receptortrong>s or neurotransmitters that trong>introng>crease calcium flux and the downstream signals that regulate neuronal activity. The encoded protetrong>introng> undergoes rapid tyrostrong>introng>e phosphorylation and activation trong>introng> response to trong>introng>creases trong>introng> the trong>introng>tracellular calcium concentration, nicottrong>introng>ic acetylcholtrong>introng>e trong>receptortrong> activation, membrane depolarization, or protetrong>introng> ktrong>introng>ase C activation. This protetrong>introng> has been shown to btrong>introng>d CRK-associated substrate, nephrocysttrong>introng>, GTPase regulator associated with FAK, and the SH2 domatrong>introng> of GRB2. The encoded protetrong>introng> is a member of the FAK subfamily of protetrong>introng> tyrostrong>introng>e ktrong>introng>ases but lacks significant sequence similarity to ktrong>introng>ases from other subfamilies. Four transcript variants encodtrong>introng>g two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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trong>betatrong>-glucuronidase-like protetrong>introng> SMA4
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CDC42 btrong>introng>dtrong>introng>g protetrong>introng> ktrong>introng>ase trong>betatrong> (DMPK-like)
This gene encodes a member of the sertrong>introng>e/threontrong>introng>e protetrong>introng> ktrong>introng>ase family. The encoded protetrong>introng> contatrong>introng>s a Cdc42/Rac-btrong>introng>dtrong>introng>g p21 btrong>introng>dtrong>introng>g domatrong>introng> resembltrong>introng>g that of PAK ktrong>introng>ase. The ktrong>introng>ase domatrong>introng> of this protetrong>introng> is most closely related to that of myotonic dystrophy ktrong>introng>ase-related ROK. Studies of the similar gene trong>introng> rat suggested that this ktrong>introng>ase may act as a downstream effector of Cdc42 trong>introng> cytoskeletal reorganization. [provided by RefSeq, Jul 2008]
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ST3 trong>betatrong>-galactoside alpha-2,3-sialyltransferase 5 pseudogene 1
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propionyl CoA carboxylase, trong>betatrong> polypeptide
The protetrong>introng> encoded by this gene is a subunit of the propionyl-CoA carboxylase (PCC) enzyme, which is trong>introng>volved trong>introng> the catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that probably acts as a dodecamer of six alpha subunits and six trong>betatrong> subunits. This gene encodes the trong>betatrong> subunit of PCC. Defects trong>introng> this gene are a cause of propionic acidemia type II (PA-2). Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene.[provided by RefSeq, May 2010]
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hydroxysteroid (11-trong>betatrong>) dehydrogenase 1-like
This gene is a member of the hydroxysteroid dehydrogenase family. The encoded protetrong>introng> is similar to an enzyme that catalyzes the trong>introng>terconversion of trong>introng>active to active glucocorticoids (e.g. cortisone). Alternatively spliced transcript variants encodtrong>introng>g multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012]
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cystathiontrong>introng>e-trong>betatrong>-synthase
The protetrong>introng> encoded by this gene acts as a homotetramer to catalyze the conversion of homocystetrong>introng>e to cystathiontrong>introng>e, the first step trong>introng> the transsulfuration pathway. The encoded protetrong>introng> is allosterically activated by adenosyl-methiontrong>introng>e and uses pyridoxal phosphate as a cofactor. Defects trong>introng> this gene can cause cystathiontrong>introng>e trong>betatrong>-synthase deficiency (CBSD), which can lead to homocysttrong>introng>uria. This gene is a major contributor to cellular hydrogen sulfide production. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]
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signal-regulatory protetrong>introng> trong>betatrong> 3, pseudogene
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ATPase, H+/K+ exchangtrong>introng>g, trong>betatrong> polypeptide
The protetrong>introng> encoded by this gene belongs to a family of P-type cation-transporttrong>introng>g ATPases. The gastric H+, K+-ATPase is a heterodimer consisttrong>introng>g of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated trong>betatrong> subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion. This gene encodes the trong>betatrong> subunit of the gastric H+, K+-ATPase. [provided by RefSeq, Jul 2008]
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ST6 (alpha-N-acetyl-neuramtrong>introng>yl-2,3-trong>betatrong>-galactosyl-1,3)-N-acetylgalactosamtrong>introng>ide alpha-2,6-sialyltransferase 6
ST6GALNAC6 belongs to a family of sialyltransferases that modify protetrong>introng>s and ceramides on the cell surface to alter cell-cell or cell-extracellular matrix trong>introng>teractions (Tsuchida et al., 2003 [PubMed 12668675]).[supplied by OMIM, Mar 2008]
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trong>betatrong>-carotene oxygenase 2
This gene encodes an enzyme which oxidizes carotenoids such as trong>betatrong>-carotene durtrong>introng>g the biosynthesis of vitamtrong>introng> A. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
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guantrong>introng>e nucleotide btrong>introng>dtrong>introng>g protetrong>introng> (G protetrong>introng>), trong>betatrong> polypeptide 1-like
This gene encodes a G-protetrong>introng> trong>betatrong>-subunit-like polypeptide which is a member of the WD repeat protetrong>introng> family. WD repeats are mtrong>introng>imally conserved regions of approximately 40 amtrong>introng>o acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotetrong>introng> complexes. Members of this family are trong>introng>volved trong>introng> a variety of cellular processes, trong>introng>cludtrong>introng>g cell cycle progression, signal transduction, apoptosis, and gene regulation. This protetrong>introng> contatrong>introng>s 6 WD repeats and is highly expressed trong>introng> the heart. The gene maps to the region on chromosome 22q11, which is deleted trong>introng> DiGeorge syndrome, trisomic trong>introng> derivative 22 syndrome and tetrasomic trong>introng> cat-eye syndrome. Therefore, this gene may contribute to the etiology of those disorders. Transcripts from this gene share exons with some transcripts from the C22orf29 gene. [provided by RefSeq, Jul 2008]
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succtrong>introng>ate-CoA ligase, ADP-formtrong>introng>g, trong>betatrong> subunit pseudogene
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succtrong>introng>ate-CoA ligase, ADP-formtrong>introng>g, trong>betatrong> subunit pseudogene
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succtrong>introng>ate-CoA ligase, ADP-formtrong>introng>g, trong>betatrong> subunit pseudogene
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succtrong>introng>ate-CoA ligase, ADP-formtrong>introng>g, trong>betatrong> subunit pseudogene
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defenstrong>introng>, trong>betatrong> 109, pseudogene 3
Predicted to be trong>introng>volved trong>introng> defense response to bacterium. Predicted to be located trong>introng> Golgi lumen and extracellular region. [provided by Alliance of Genome Resources, Mar 2025]
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crystalltrong>introng>, trong>betatrong> B2 pseudogene 1
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UDP-GlcNAc:trong>betatrong>Gal trong>betatrong>-1,3-N-acetylglucosamtrong>introng>yltransferase 5 pseudogene
Predicted to enable glycosyltransferase activity. Predicted to be trong>introng>volved trong>introng> protetrong>introng> O-ltrong>introng>ked glycosylation. Predicted to be located trong>introng> Golgi apparatus and membrane. Predicted to be active trong>introng> Golgi membrane. [provided by Alliance of Genome Resources, Mar 2025]
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adaptor-related protetrong>introng> complex 2, trong>betatrong> 1 subunit pseudogene
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protetrong>introng> phosphatase 2, regulatory subunit B, trong>betatrong>
The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protetrong>introng> phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated trong>introng> the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a trong>betatrong> isoform of the regulatory subunit B55 subfamily. Defects trong>introng> this gene cause autosomal domtrong>introng>ant sptrong>introng>ocerebellar ataxia 12 (SCA12), a disease caused by degeneration of the cerebellum, sometimes trong>introng>volvtrong>introng>g the bratrong>introng>stem and sptrong>introng>al cord, and trong>introng> resulttrong>introng>g trong>introng> poor coordtrong>introng>ation of speech and body movements. Multiple alternatively spliced variants, which encode different isoforms, have been identified for this gene. The 5' UTR of some of these variants trong>introng>cludes a CAG trtrong>introng>ucleotide repeat sequence (7-28 copies) that can be expanded to 55-78 copies trong>introng> cases of SCA12. [provided by RefSeq, Jul 2016]
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NADH dehydrogenase (ubiqutrong>introng>one) 1 trong>betatrong> subcomplex, 8, pseudogene 2
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guantrong>introng>e nucleotide btrong>introng>dtrong>introng>g protetrong>introng> (G protetrong>introng>), trong>betatrong> polypeptide 2-like 1 pseudogene
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guantrong>introng>e nucleotide btrong>introng>dtrong>introng>g protetrong>introng> (G protetrong>introng>), trong>betatrong> polypeptide 2-like 1 pseudogene
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thymostrong>introng> trong>betatrong> 4, X-ltrong>introng>ked pseudogene 6
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thymostrong>introng> trong>betatrong> 4, X-ltrong>introng>ked pseudogene 4
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catsper channel auxiliary subunit trong>betatrong>
Predicted to be trong>introng>volved trong>introng> cell differentiation and spermatogenesis. Predicted to be located trong>introng> sperm prtrong>introng>cipal piece. Predicted to be part of CatSper complex. Predicted to be active trong>introng> cilium. [provided by Alliance of Genome Resources, Mar 2025]
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poly(A) polymerase trong>betatrong> (testis specific)
Predicted to enable poly(A) RNA polymerase activity. Predicted to be trong>introng>volved trong>introng> RNA 3'-end processtrong>introng>g and mRNA processtrong>introng>g. Predicted to be located trong>introng> endoplasmic reticulum. Predicted to be active trong>introng> nucleus. [provided by Alliance of Genome Resources, Mar 2025]
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tyrostrong>introng>e 3-monooxygenase/tryptophan 5-monooxygenase activation protetrong>introng>, trong>betatrong> pseudogene 2
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tyrostrong>introng>e 3-monooxygenase/tryptophan 5-monooxygenase activation protetrong>introng>, trong>betatrong> pseudogene 1
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trong>betatrong>-1,3-glucuronyltransferase 3 pseudogene 1
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adrenoceptor trong>betatrong> 1
The adrenergic trong>receptortrong>s (subtypes alpha 1, alpha 2, trong>betatrong> 1, and trong>betatrong> 2) are a prototypic family of guantrong>introng>e nucleotide btrong>introng>dtrong>introng>g regulatory protetrong>introng>-coupled trong>receptortrong>s that mediate the physiological effects of the hormone eptrong>introng>ephrtrong>introng>e and the neurotransmitter noreptrong>introng>ephrtrong>introng>e. trong>Betatrong>-1 adrenoceptors are predomtrong>introng>ately located trong>introng> the heart. Specific polymorphisms trong>introng> this gene have been shown to affect the resttrong>introng>g heart rate and can be trong>introng>volved trong>introng> heart failure. [provided by RefSeq, Sep 2019]
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adrenoceptor trong>betatrong> 3
The protetrong>introng> encoded by this gene belongs to the family of trong>betatrong> adrenergic trong>receptortrong>s, which mediate catecholamtrong>introng>e-trong>introng>duced activation of adenylate cyclase through the action of G protetrong>introng>s. This trong>receptortrong> is located matrong>introng>ly trong>introng> the adipose tissue and is trong>introng>volved trong>introng> the regulation of lipolysis and thermogenesis. Obesity and bodyweight-related disorders are correlated with certatrong>introng> polymorphisms trong>introng> three subtypes of trong>betatrong>-adrenoceptor, among them, the ADRB3 gene.[provided by RefSeq, Oct 2019]
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klotho trong>betatrong>
Enables fibroblast growth factor btrong>introng>dtrong>introng>g activity and fibroblast growth factor trong>receptortrong> btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> carbohydrate metabolic process. Predicted to act upstream of or withtrong>introng> positive regulation of MAPKKK cascade by fibroblast growth factor trong>receptortrong> signaltrong>introng>g pathway and positive regulation of cell population proliferation. Predicted to be located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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defenstrong>introng>, trong>betatrong> 108, pseudogene 4
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proteasome (prosome, macropatrong>introng>) subunit, trong>betatrong> type, 3 pseudogene 2
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adductrong>introng> 2 (trong>betatrong>)
Adductrong>introng>s are heteromeric protetrong>introng>s composed of different subunits referred to as adductrong>introng> alpha, trong>betatrong> and gamma. The three subunits are encoded by disttrong>introng>ct genes and belong to a family of membrane skeletal protetrong>introng>s trong>introng>volved trong>introng> the assembly of spectrtrong>introng>-acttrong>introng> network trong>introng> erythrocytes and at sites of cell-cell contact trong>introng> epithelial tissues. While adductrong>introng>s alpha and gamma are ubiquitously expressed, the expression of adductrong>introng> trong>betatrong> is restricted to bratrong>introng> and hematopoietic tissues. Adductrong>introng>, origtrong>introng>ally purified from human erythrocytes, was found to be a heterodimer of adductrong>introng>s alpha and trong>betatrong>. Polymorphisms resulttrong>introng>g trong>introng> amtrong>introng>o acid substitutions trong>introng> these two subunits have been associated with the regulation of blood pressure trong>introng> an animal model of hypertension. Heterodimers consisttrong>introng>g of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two disttrong>introng>ct domatrong>introng>s. The amtrong>introng>o-termtrong>introng>al region is protease resistant and globular trong>introng> shape, while the carboxy-termtrong>introng>al region is protease sensitive. The latter contatrong>introng>s multiple phosphorylation sites for protetrong>introng> ktrong>introng>ase C, the btrong>introng>dtrong>introng>g site for calmodultrong>introng>, and is required for association with spectrtrong>introng> and acttrong>introng>. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2010]
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NADH dehydrogenase (ubiqutrong>introng>one) 1 trong>betatrong> subcomplex, 1 pseudogene 1
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capptrong>introng>g protetrong>introng> (acttrong>introng> filament) muscle Z-ltrong>introng>e, trong>betatrong> pseudogene
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NADH dehydrogenase (ubiqutrong>introng>one) 1 trong>betatrong> subcomplex, 11, 17.3kDa
The protetrong>introng> encoded by this gene is a subunit of the multisubunit NADH:ubiqutrong>introng>one oxidoreductase (complex I). Mammalian complex I is located at the mitochondrial trong>introng>ner membrane. This protetrong>introng> has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to ubiqutrong>introng>one. Mutations trong>introng> the human gene are associated with ltrong>introng>ear sktrong>introng> defects with multiple congenital anomalies 3 and mitochondrial complex I deficiency. [provided by RefSeq, Dec 2016]
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NADH dehydrogenase (ubiqutrong>introng>one) 1 trong>betatrong> subcomplex, 10, 22kDa
Predicted to enable NADH dehydrogenase (ubiqutrong>introng>one) activity. trong>Introng>volved trong>introng> mitochondrial respiratory trong>chatrong>introng>trong> complex I assembly. Located trong>introng> mitochondrion. Part of mitochondrial trong>introng>ner membrane and respiratory trong>chatrong>introng>trong> complex I. Implicated trong>introng> nuclear type mitochondrial complex I deficiency 35. [provided by Alliance of Genome Resources, Mar 2025]
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sodium channel, voltage gated, type IV trong>betatrong> subunit
The protetrong>introng> encoded by this gene is one of several sodium channel trong>betatrong> subunits. These subunits trong>introng>teract with voltage-gated alpha subunits to change sodium channel ktrong>introng>etics. The encoded transmembrane protetrong>introng> forms trong>introng>tertrong>chatrong>introng>trong> disulfide bonds with SCN2A. Defects trong>introng> this gene are a cause of long QT syndrome type 10 (LQT10). Three protetrong>introng>-codtrong>introng>g and one non-codtrong>introng>g transcript variant have been found for this gene.[provided by RefSeq, Mar 2009]
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mannosyl (alpha-1,3-)-glycoprotetrong>introng> trong>betatrong>-1,4-N-acetylglucosamtrong>introng>yltransferase, isozyme A
This gene encodes a key glycosyltransferase that regulates the formation of tri- and multiantennary branchtrong>introng>g structures trong>introng> the Golgi apparatus. The encoded protetrong>introng>, trong>introng> addition to the related isoenzyme B, catalyzes the transfer of N-acetylglucosamtrong>introng>e (GlcNAc) from UDP-GlcNAc trong>introng> a trong>betatrong>-1,4 ltrong>introng>kage to the Man-alpha-1,3-Man-trong>betatrong>-1,4-GlcNAc arm of R-Man-alpha-1,6(GlcNAc-trong>betatrong>-1,2-Man-alpha-1,3)Man-trong>betatrong>-1,4-GlcNAc-trong>betatrong>-1,4-GlcNAc-trong>betatrong>-1-Asn. The encoded protetrong>introng> may play a role trong>introng> regulattrong>introng>g the availability of serum glycoprotetrong>introng>s, oncogenesis, and differentiation. [provided by RefSeq, Jul 2008]
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mannosyl (alpha-1,3-)-glycoprotetrong>introng> trong>betatrong>-1,4-N-acetylglucosamtrong>introng>yltransferase, isozyme B
This gene encodes a key glycosyltransferase that regulates the formation of tri- and multiantennary branchtrong>introng>g structures trong>introng> the Golgi apparatus. The encoded protetrong>introng>, trong>introng> addition to the related isoenzyme A, catalyzes the transfer of N-acetylglucosamtrong>introng>e (GlcNAc) from UDP-GlcNAc trong>introng> a trong>betatrong>-1,4 ltrong>introng>kage to the Man-alpha-1,3-Man-trong>betatrong>-1,4-GlcNAc arm of R-Man-alpha-1,6(GlcNAc-trong>betatrong>-1,2-Man-alpha-1,3)Man-trong>betatrong>-1,4-GlcNAc-trong>betatrong>-1,4-GlcNAc-trong>betatrong>-1-Asn. The encoded protetrong>introng> may play a role trong>introng> regulattrong>introng>g the availability of serum glycoprotetrong>introng>s, oncogenesis, and differentiation. [provided by RefSeq, Jul 2008]
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UDP-GlcNAc:trong>betatrong>Gal trong>betatrong>-1,3-N-acetylglucosamtrong>introng>yltransferase-like 1
Enables tRNA-queuostrong>introng>e(34) galactosyltransferase activity. trong>Introng>volved trong>introng> regulation of translation and tRNA modification. Is active trong>introng> cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]
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phosphatidyltrong>introng>ositol-4-phosphate 5-ktrong>introng>ase, type I, trong>betatrong>
Predicted to enable 1-phosphatidyltrong>introng>ositol-4-phosphate 5-ktrong>introng>ase activity. Predicted to be trong>introng>volved trong>introng> phosphatidyltrong>introng>ositol phosphate biosynthetic process. Predicted to act upstream of or withtrong>introng> phosphatidyltrong>introng>ositol biosynthetic process. Located trong>introng> uropod. [provided by Alliance of Genome Resources, Mar 2025]
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amyloid trong>betatrong> (A4) precursor-like protetrong>introng> 2
This gene encodes amyloid precursor- like protetrong>introng> 2 (APLP2), which is a member of the APP (amyloid precursor protetrong>introng>) family trong>introng>cludtrong>introng>g APP, APLP1 and APLP2. This protetrong>introng> is ubiquitously expressed. It contatrong>introng>s hepartrong>introng>-, copper- and ztrong>introng>c- btrong>introng>dtrong>introng>g domatrong>introng>s at the N-termtrong>introng>us, BPTI/Kunitz trong>introng>hibitor and E2 domatrong>introng>s trong>introng> the middle region, and transmembrane and trong>introng>tracellular domatrong>introng>s at the C-termtrong>introng>us. This protetrong>introng> trong>introng>teracts with major histocompatibility complex (MHC) class I molecules. The synergy of this protetrong>introng> and the APP is required to mediate neuromuscular transmission, spatial learntrong>introng>g and synaptic plasticity. This protetrong>introng> has been implicated trong>introng> the pathogenesis of Alzheimer's disease. Multiple alternatively spliced transcript variants encodtrong>introng>g different isoforms have been identified. [provided by RefSeq, Aug 2011]
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protetrong>introng> O-ltrong>introng>ked mannose N-acetylglucosamtrong>introng>yltransferase 1 (trong>betatrong> 1,2-)
This gene encodes a type II transmembrane protetrong>introng> that resides trong>introng> the Golgi apparatus. It participates trong>introng> O-mannosyl glycosylation and is specific for alpha ltrong>introng>ked termtrong>introng>al mannose. Mutations trong>introng> this gene may be associated with muscle-eye-bratrong>introng> disease and several congenital muscular dystrophies. Alternatively spliced transcript variants that encode different protetrong>introng> isoforms have been described. [provided by RefSeq, Feb 2014]
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protetrong>introng> O-ltrong>introng>ked mannose N-acetylglucosamtrong>introng>yltransferase 2 (trong>betatrong> 1,4-)
This gene encodes a protetrong>introng> with glycosyltransferase activity although its function is not currently known. [provided by RefSeq, Sep 2012]
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tubultrong>introng>, trong>betatrong> class I pseudogene 7
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tubultrong>introng>, trong>betatrong> class I pseudogene 6
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tubultrong>introng>, trong>betatrong> pseudogene 5
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tubultrong>introng>, trong>betatrong> pseudogene 4
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tubultrong>introng>, trong>betatrong> pseudogene 3
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tubultrong>introng>, trong>betatrong> pseudogene 2
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tubultrong>introng>, trong>betatrong> pseudogene 1
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tubultrong>introng>, trong>betatrong> class I pseudogene 9
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tubultrong>introng>, trong>betatrong> 6 class V pseudogene 1
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core 1 synthase, glycoprotetrong>introng>-N-acetylgalactosamtrong>introng>e 3-trong>betatrong>-galactosyltransferase 1
The protetrong>introng> encoded by this gene generates the common core 1 O-glycan structure, Gal-trong>betatrong>-1-3GalNAc-R, by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R. Core 1 is a precursor for many extended muctrong>introng>-type O-glycans on cell surface and secreted glycoprotetrong>introng>s. Studies trong>introng> mice suggest that this gene plays a key role trong>introng> thrombopoiesis and kidney homeostasis.[provided by RefSeq, Sep 2010]
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NADH dehydrogenase (ubiqutrong>introng>one) 1 trong>betatrong> subcomplex, 4, 15kDa pseudogene
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hydroxysteroid (17-trong>betatrong>) dehydrogenase 1 pseudogene 1
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parvtrong>introng>, trong>betatrong>
This gene encodes a member of the parvtrong>introng> family of acttrong>introng>-btrong>introng>dtrong>introng>g protetrong>introng>s, which play a role trong>introng> cytoskeleton organization and cell adhesion. These protetrong>introng>s are associated with focal contacts and contatrong>introng> calpontrong>introng> homology domatrong>introng>s that btrong>introng>d to acttrong>introng> filaments. This family member btrong>introng>ds to alphaPIX and alpha-acttrong>introng>trong>introng>, and it can trong>introng>hibit the activity of trong>introng>tegrtrong>introng>-ltrong>introng>ked ktrong>introng>ase. This protetrong>introng> also functions trong>introng> tumor suppression. Alternative splictrong>introng>g of this gene results trong>introng> multiple transcript variants. [provided by RefSeq, Aug 2011]
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ST6 (alpha-N-acetyl-neuramtrong>introng>yl-2,3-trong>betatrong>-galactosyl-1,3)-N-acetylgalactosamtrong>introng>ide alpha-2,6-sialyltransferase 5
The protetrong>introng> encoded by this gene is a Golgi type II transmembrane glycosyltransferase. The encoded protetrong>introng> catalyzes the transfer of sialic acid to cell surface protetrong>introng>s to modulate cell-cell trong>introng>teractions. Several transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
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ST6 (alpha-N-acetyl-neuramtrong>introng>yl-2,3-trong>betatrong>-galactosyl-1,3)-N-acetylgalactosamtrong>introng>ide alpha-2,6-sialyltransferase 4
The protetrong>introng> encoded by this gene is a type II membrane protetrong>introng> that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-contatrong>introng>trong>introng>g substrates. The encoded protetrong>introng> prefers glycoprotetrong>introng>s rather than glycolipids as substrates and shows restricted substrate specificity, utiliztrong>introng>g only the trisaccharide sequence Neu5Ac-alpha-2,3-Gal-trong>betatrong>-1,3-GalNAc. trong>Introng> addition, it is trong>introng>volved trong>introng> the synthesis of ganglioside GD1A from GM1B. The encoded protetrong>introng> is normally found trong>introng> the Golgi apparatus but can be proteolytically processed to a soluble form. This protetrong>introng> is a member of glycosyltransferase family 29. Transcript variants encodtrong>introng>g different isoforms have been found for this gene. Readthrough transcripts exist for this gene and the downstream ST6GALNAC6 gene. [provided by RefSeq, Jan 2022]
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ST6 (alpha-N-acetyl-neuramtrong>introng>yl-2,3-trong>betatrong>-galactosyl-1,3)-N-acetylgalactosamtrong>introng>ide alpha-2,6-sialyltransferase 3
ST6GALNAC3 belongs to a family of sialyltransferases that transfer sialic acids from CMP-sialic acid to termtrong>introng>al positions of carbohydrate groups trong>introng> glycoprotetrong>introng>s and glycolipids (Lee et al., 1999 [PubMed 10207017]).[supplied by OMIM, Mar 2008]
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ST6 (alpha-N-acetyl-neuramtrong>introng>yl-2,3-trong>betatrong>-galactosyl-1,3)-N-acetylgalactosamtrong>introng>ide alpha-2,6-sialyltransferase 2
ST6GALNAC2 belongs to a family of sialyltransferases that add sialic acids to the nonreductrong>introng>g ends of glycoconjugates. At the cell surface, these modifications have roles trong>introng> cell-cell and cell-substrate trong>introng>teractions, bacterial adhesion, and protetrong>introng> targettrong>introng>g (Samyn-Petit et al., 2000 [PubMed 10742600]).[supplied by OMIM, Mar 2008]
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ST6 (alpha-N-acetyl-neuramtrong>introng>yl-2,3-trong>betatrong>-galactosyl-1,3)-N-acetylgalactosamtrong>introng>ide alpha-2,6-sialyltransferase 1
Glycosylation of protetrong>introng>s affects cell-cell trong>introng>teraction, trong>introng>teractions with the matrix, and the functions of trong>introng>tracellular molecules. ST6GALNAC1 transfers a sialic acid, N-acetylneuramtrong>introng>ic acid (NeuAc), trong>introng> an alpha-2,6 ltrong>introng>kage to O-ltrong>introng>ked GalNAc residues. The cancer-associated sialyl-Tn (sTn) antigen is formed by ST6GALNAC1-catalyzed sialylation of GalNAc residues on muctrong>introng>s (Ikehara et al., 1999 [PubMed 10536037]; Sewell et al., 2006 [PubMed 16319059]).[supplied by OMIM, Mar 2008]
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ATPase, Cu++ transporttrong>introng>g, trong>betatrong> polypeptide pseudogene 1
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phosphatidyltrong>introng>ositol 4-ktrong>introng>ase, catalytic, trong>betatrong>
Enables 1-phosphatidyltrong>introng>ositol 4-ktrong>introng>ase activity and 14-3-3 protetrong>introng> btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> trong>introng>ner ear development. Acts upstream of or withtrong>introng> lysosome organization. Located trong>introng> Golgi membrane. Implicated trong>introng> autosomal domtrong>introng>ant nonsyndromic deafness 87. [provided by Alliance of Genome Resources, Mar 2025]
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Ral GTPase activattrong>introng>g protetrong>introng>, trong>betatrong> subunit (non-catalytic)
Enables protetrong>introng> heterodimerization activity. Predicted to be trong>introng>volved trong>introng> Ral protetrong>introng> signal transduction and activation of GTPase activity. Predicted to act upstream of or withtrong>introng> regulation of exocyst localization and regulation of protetrong>introng> localization. [provided by Alliance of Genome Resources, Mar 2025]
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bartttrong>introng> CLCNK-type chloride channel accessory trong>betatrong> subunit pseudogene 2
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succtrong>introng>ate-CoA ligase, GDP-formtrong>introng>g, trong>betatrong> subunit
This gene encodes a GTP-specific trong>betatrong> subunit of succtrong>introng>yl-CoA synthetase. Succtrong>introng>yl-CoA synthetase catalyzes the reversible reaction trong>introng>volvtrong>introng>g the formation of succtrong>introng>yl-CoA and succtrong>introng>ate. Alternate splictrong>introng>g results trong>introng> multiple transcript variants. Pseudogenes of this gene are found on chromosomes 5 and 12. [provided by RefSeq, Apr 2010]
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thymostrong>introng> trong>betatrong> 4, X-ltrong>introng>ked pseudogene
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hydroxysteroid (17-trong>betatrong>) dehydrogenase 12 pseudogene
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defenstrong>introng>, trong>betatrong> 108B
Defenstrong>introng>s form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defenstrong>introng>s are short, processed peptide molecules that are classified by structure trong>introng>to three groups: alpha-defenstrong>introng>s, trong>betatrong>-defenstrong>introng>s and theta-defenstrong>introng>s. All trong>betatrong>-defenstrong>introng> genes are densely clustered trong>introng> four to five syntenic chromosomal regions. A pseudogene of this gene has been found on chromosome 8. [provided by RefSeq, Oct 2014]
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endoplasmic reticulum oxidoreductase 1 trong>betatrong>
Enables protetrong>introng>-disulfide reductase activity and thiol oxidase activity. trong>Introng>volved trong>introng> protetrong>introng> foldtrong>introng>g trong>introng> endoplasmic reticulum. Predicted to be located trong>introng> endoplasmic reticulum. Predicted to be active trong>introng> endoplasmic reticulum lumen and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Mar 2025]
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crystalltrong>introng> trong>betatrong>-gamma domatrong>introng> contatrong>introng>trong>introng>g 1
Predicted to enable carbohydrate btrong>introng>dtrong>introng>g activity. [provided by Alliance of Genome Resources, Mar 2025]
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ATP synthase F1 subunit trong>betatrong>
This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utiliztrong>introng>g an electrochemical gradient of protons across the trong>introng>ner membrane durtrong>introng>g oxidative phosphorylation. ATP synthase is composed of two ltrong>introng>ked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanntrong>introng>g component, Fo, compristrong>introng>g the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, trong>betatrong>, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 trong>betatrong>, and a strong>introng>gle representative of the other 3. The proton channel consists of three matrong>introng> subunits (a, b, c). This gene encodes the trong>betatrong> subunit of the catalytic core. [provided by RefSeq, Jul 2008]
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crystalltrong>introng> trong>betatrong>-gamma domatrong>introng> contatrong>introng>trong>introng>g 2
Predicted to enable carbohydrate btrong>introng>dtrong>introng>g activity. [provided by Alliance of Genome Resources, Mar 2025]
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trong>betatrong> 3-glucosyltransferase
The protetrong>introng> encoded by this gene is a trong>betatrong>-1,3-glucosyltransferase that transfers glucose to O-ltrong>introng>ked fucosylglycans on thrombospondtrong>introng> type-1 repeats (TSRs) of several protetrong>introng>s. The encoded protetrong>introng> is a type II membrane protetrong>introng>. Defects trong>introng> this gene are a cause of Peters-plus syndrome (PPS).[provided by RefSeq, Mar 2009]
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mitochondrial calcium uniporter domtrong>introng>ant negative subunit trong>betatrong>
Enables calcium channel trong>introng>hibitor activity. trong>Introng>volved trong>introng> negative regulation of calcium import trong>introng>to the mitochondrion. Located trong>introng> mitochondrial trong>introng>ner membrane and nucleoplasm. Part of uniplex complex. [provided by Alliance of Genome Resources, Mar 2025]
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CACN subunit trong>betatrong> associated regulatory protetrong>introng>
Predicted to enable transmembrane transporter btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> negative regulation of calcium ion-dependent exocytosis and negative regulation of voltage-gated calcium channel activity. Predicted to be located trong>introng> growth cone and secretory granule. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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guanylate cyclase 1 soluble subunit trong>betatrong> 1
This gene encodes the trong>betatrong> subunit of the soluble guanylate cyclase (sGC), which catalyzes the conversion of GTP (guanostrong>introng>e triphosphate) to cGMP (cyclic guanostrong>introng>e monophosphate). The encoded protetrong>introng> contatrong>introng>s an HNOX domatrong>introng>, which serves as a trong>receptortrong> for ligands such as nitric oxide, oxygen and nitrovasodilator drugs. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, May 2014]
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electron transfer flavoprotetrong>introng> subunit trong>betatrong> lystrong>introng>e methyltransferase
Enables heat shock protetrong>introng> btrong>introng>dtrong>introng>g activity and protetrong>introng>-lystrong>introng>e N-methyltransferase activity. trong>Introng>volved trong>introng> negative regulation of fatty acid trong>betatrong>-oxidation ustrong>introng>g acyl-CoA dehydrogenase. Located trong>introng> mitochondrial matrix. Part of protetrong>introng>-contatrong>introng>trong>introng>g complex. [provided by Alliance of Genome Resources, Mar 2025]
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glucosylceramidase trong>betatrong> 1
This gene encodes a lysosomal membrane protetrong>introng> that cleaves the trong>betatrong>-glucosidic ltrong>introng>kage of glycosylceramide, an trong>introng>termediate trong>introng> glycolipid metabolism. Mutations trong>introng> this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jan 2010]
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chorionic gonadotroptrong>introng> subunit trong>betatrong> 3
This gene is a member of the glycoprotetrong>introng> hormone trong>betatrong> trong>chatrong>introng>trong> family and encodes the trong>betatrong> 3 subunit of chorionic gonadotroptrong>introng> (CG). Glycoprotetrong>introng> hormones are heterodimers consisttrong>introng>g of a common alpha subunit and an unique trong>betatrong> subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the matrong>introng>tenance of pregnancy. The trong>betatrong> subunit of CG is encoded by 6 genes which are arranged trong>introng> tandem and trong>introng>verted pairs on chromosome 19q13.3 and contiguous with the lutetrong>introng>iztrong>introng>g hormone trong>betatrong> subunit gene. [provided by RefSeq, Jul 2008]
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defenstrong>introng> trong>betatrong> 131B
Predicted to be trong>introng>volved trong>introng> defense response to bacterium and trong>introng>nate immune response. Predicted to be located trong>introng> extracellular region. Predicted to be active trong>introng> extracellular space. [provided by Alliance of Genome Resources, Mar 2025]
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tubultrong>introng> trong>betatrong> 8B
Predicted to enable GTP btrong>introng>dtrong>introng>g activity. Predicted to be a structural constituent of cytoskeleton. Predicted to be trong>introng>volved trong>introng> microtubule cytoskeleton organization and mitotic cell cycle. Located trong>introng> trong>introng>tercellular bridge; microtubule; and mitotic sptrong>introng>dle. [provided by Alliance of Genome Resources, Mar 2025]
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defenstrong>introng> trong>betatrong> 131A
Defenstrong>introng>s are cystetrong>introng>e-rich cationic polypeptides that are important trong>introng> the immunologic response to trong>introng>vadtrong>introng>g microorganisms. The antimicrobial protetrong>introng> encoded by this gene is secreted and is a member of the trong>betatrong> defenstrong>introng> protetrong>introng> family. trong>Betatrong> defenstrong>introng> genes are found trong>introng> several clusters throughout the genome, with this gene mapptrong>introng>g to a cluster at 4p16. [provided by RefSeq, Nov 2014]
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trong>betatrong>-defenstrong>introng> 4A
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defenstrong>introng> trong>betatrong> 109B
Predicted to enable CCR6 chemoktrong>introng>e trong>receptortrong> btrong>introng>dtrong>introng>g activity and chemoattractant activity. Predicted to be trong>introng>volved trong>introng> cell chemotaxis and defense response to bacterium. Predicted to be located trong>introng> extracellular region. Predicted to be active trong>introng> extracellular space. [provided by Alliance of Genome Resources, Mar 2025]
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defenstrong>introng> trong>betatrong> 130A
Defenstrong>introng>s are cystetrong>introng>e-rich cationic polypeptides that are important trong>introng> the immunologic response to trong>introng>vadtrong>introng>g microorganisms. The antimicrobial protetrong>introng> encoded by this gene is secreted and is a member of the trong>betatrong> defenstrong>introng> protetrong>introng> family. trong>Betatrong> defenstrong>introng> genes are found trong>introng> several clusters throughout the genome, with this gene mapptrong>introng>g to a cluster at 8p23. [provided by RefSeq, Nov 2014]
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defenstrong>introng> trong>betatrong> 130B
Predicted to enable CCR6 chemoktrong>introng>e trong>receptortrong> btrong>introng>dtrong>introng>g activity and chemoattractant activity. Predicted to be trong>introng>volved trong>introng> cell chemotaxis and defense response to bacterium. Located trong>introng> cytosol. [provided by Alliance of Genome Resources, Mar 2025]
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thymostrong>introng> trong>betatrong> 15C
Predicted to enable acttrong>introng> monomer btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> positive regulation of cell migration. Predicted to be located trong>introng> cytoskeleton. Predicted to be active trong>introng> cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]
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trong>betatrong>-keto-L-gulonate decarboxylase
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UDP-GlcNAc:trong>betatrong>Gal trong>betatrong>-1,3-N-acetylglucosamtrong>introng>yltransferase-like protetrong>introng> 1
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mouse mammary tumor virus trong>receptortrong> homolog 2
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trong>introng>tegrtrong>introng>, alpha 2 (CD49B, alpha 2 subunit of VLA-2 trong>receptortrong>)
This gene encodes the alpha subunit of a transmembrane trong>receptortrong> for collagens and related protetrong>introng>s. The encoded protetrong>introng> forms a heterodimer with a trong>betatrong> subunit and mediates the adhesion of platelets and other cell types to the extracellular matrix. Loss of the encoded protetrong>introng> is associated with bleedtrong>introng>g disorder platelet-type 9. Antibodies agatrong>introng>st this protetrong>introng> are found trong>introng> several immune disorders, trong>introng>cludtrong>introng>g neonatal alloimmune thrombocytopenia. This gene is located adjacent to a related alpha subunit gene. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Aug 2012]
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trong>introng>tegrtrong>introng>, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 trong>receptortrong>)
The gene encodes a member of the trong>introng>tegrtrong>introng> alpha trong>chatrong>introng>trong> family of protetrong>introng>s. trong>Introng>tegrtrong>introng>s are heterodimeric trong>introng>tegral membrane protetrong>introng>s composed of an alpha trong>chatrong>introng>trong> and a trong>betatrong> trong>chatrong>introng>trong> that function as cell surface adhesion molecules. The encoded preproprotetrong>introng> is proteolytically processed to generate light and heavy trong>chatrong>introng>trong>s that comprise the alpha 3 subunit. This subunit jotrong>introng>s with a trong>betatrong> 1 subunit to form an trong>introng>tegrtrong>introng> that trong>introng>teracts with extracellular matrix protetrong>introng>s trong>introng>cludtrong>introng>g members of the lamtrong>introng>trong>introng> family. Expression of this gene may be correlated with breast cancer metastasis. [provided by RefSeq, Oct 2015]
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trong>introng>tegrtrong>introng>, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 trong>receptortrong>)
The gene encodes a member of the trong>introng>tegrtrong>introng> alpha trong>chatrong>introng>trong> family of protetrong>introng>s. trong>Introng>tegrtrong>introng>s are heterodimeric trong>introng>tegral membrane protetrong>introng>s composed of an alpha trong>chatrong>introng>trong> and a trong>betatrong> trong>chatrong>introng>trong> that function trong>introng> cell surface adhesion and signaltrong>introng>g. The encoded preproprotetrong>introng> is proteolytically processed to generate light and heavy trong>chatrong>introng>trong>s that comprise the alpha 4 subunit. This subunit associates with a trong>betatrong> 1 or trong>betatrong> 7 subunit to form an trong>introng>tegrtrong>introng> that may play a role trong>introng> cell motility and migration. This trong>introng>tegrtrong>introng> is a therapeutic target for the treatment of multiple sclerosis, Crohn's disease and trong>introng>flammatory bowel disease. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Oct 2015]
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trong>introng>tegrtrong>introng>, alpha 5 (fibronecttrong>introng> trong>receptortrong>, alpha polypeptide)
The product of this gene belongs to the trong>introng>tegrtrong>introng> alpha trong>chatrong>introng>trong> family. trong>Introng>tegrtrong>introng>s are heterodimeric trong>introng>tegral membrane protetrong>introng>s composed of an alpha subunit and a trong>betatrong> subunit that function trong>introng> cell surface adhesion and signaltrong>introng>g. The encoded preproprotetrong>introng> is proteolytically processed to generate light and heavy trong>chatrong>introng>trong>s that comprise the alpha 5 subunit. This subunit associates with the trong>betatrong> 1 subunit to form a fibronecttrong>introng> trong>receptortrong>. This trong>introng>tegrtrong>introng> may promote tumor trong>introng>vasion, and higher expression of this gene may be correlated with shorter survival time trong>introng> lung cancer patients. Note that the trong>introng>tegrtrong>introng> alpha 5 and trong>introng>tegrtrong>introng> alpha V subunits are encoded by disttrong>introng>ct genes. [provided by RefSeq, Oct 2015]
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thyrotroptrong>introng>-releastrong>introng>g hormone trong>receptortrong>
This gene encodes a G protetrong>introng>-coupled trong>receptortrong> for thyrotroptrong>introng>-releastrong>introng>g hormone (TRH). Upon btrong>introng>dtrong>introng>g to TRH, this trong>receptortrong> activates the trong>introng>ositol phospholipid-calcium-protetrong>introng> ktrong>introng>ase C transduction pathway. Mutations trong>introng> this gene have been associated with generalized thyrotroptrong>introng>-releastrong>introng>g hormone resistance. [provided by RefSeq, Sep 2011]
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trong>introng>tegrtrong>introng>, alpha X (complement component 3 trong>receptortrong> 4 subunit)
This gene encodes the trong>introng>tegrtrong>introng> alpha X trong>chatrong>introng>trong> protetrong>introng>. trong>Introng>tegrtrong>introng>s are heterodimeric trong>introng>tegral membrane protetrong>introng>s composed of an alpha trong>chatrong>introng>trong> and a trong>betatrong> trong>chatrong>introng>trong>. This protetrong>introng> combtrong>introng>es with the trong>betatrong> 2 trong>chatrong>introng>trong> (ITGB2) to form a leukocyte-specific trong>introng>tegrtrong>introng> referred to as trong>introng>activated-C3b (iC3b) trong>receptortrong> 4 (CR4). The alpha X trong>betatrong> 2 complex seems to overlap the properties of the alpha M trong>betatrong> 2 trong>introng>tegrtrong>introng> trong>introng> the adherence of neutrophils and monocytes to stimulated endothelium cells, and trong>introng> the phagocytosis of complement coated particles. Two transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
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trong>introng>tegrtrong>introng>, alpha M (complement component 3 trong>receptortrong> 3 subunit)
This gene encodes the trong>introng>tegrtrong>introng> alpha M trong>chatrong>introng>trong>. trong>Introng>tegrtrong>introng>s are heterodimeric trong>introng>tegral membrane protetrong>introng>s composed of an alpha trong>chatrong>introng>trong> and a trong>betatrong> trong>chatrong>introng>trong>. This I-domatrong>introng> contatrong>introng>trong>introng>g alpha trong>introng>tegrtrong>introng> combtrong>introng>es with the trong>betatrong> 2 trong>chatrong>introng>trong> (ITGB2) to form a leukocyte-specific trong>introng>tegrtrong>introng> referred to as macrophage trong>receptortrong> 1 ('Mac-1'), or trong>introng>activated-C3b (iC3b) trong>receptortrong> 3 ('CR3'). The alpha M trong>betatrong> 2 trong>introng>tegrtrong>introng> is important trong>introng> the adherence of neutrophils and monocytes to stimulated endothelium, and also trong>introng> the phagocytosis of complement coated particles. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
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trong>introng>sultrong>introng>-like growth factor 2 trong>receptortrong>
This gene encodes a trong>receptortrong> for both trong>introng>sultrong>introng>-like growth factor 2 and mannose 6-phosphate. The btrong>introng>dtrong>introng>g sites for each ligand are located on different segments of the protetrong>introng>. This trong>receptortrong> has various functions, trong>introng>cludtrong>introng>g trong>introng> the trong>introng>tracellular trafficktrong>introng>g of lysosomal enzymes, the activation of transformtrong>introng>g growth factor trong>betatrong>, and the degradation of trong>introng>sultrong>introng>-like growth factor 2. Mutation or loss of heterozygosity of this gene has been association with risk of hepatocellular carctrong>introng>oma. The orthologous mouse gene is imprtrong>introng>ted and shows exclusive expression from the maternal allele; however, imprtrong>introng>ttrong>introng>g of the human gene may be polymorphic, as only a mtrong>introng>ority of trong>introng>dividuals showed biased expression from the maternal allele (PMID:8267611). [provided by RefSeq, Nov 2015]
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olfactory trong>receptortrong>, family 4, subfamily A, member 44 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 6, subfamily C, member 3 pseudogene
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olfactory trong>receptortrong>, family 6, subfamily C, member 1 pseudogene
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olfactory trong>receptortrong>, family 9, subfamily K, member 2 pseudogene
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olfactory trong>receptortrong>, family 6, subfamily C, member 2 pseudogene
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olfactory trong>receptortrong>, family 6, subfamily Y, member 1 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily K, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily F, member 14 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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nuclear trong>receptortrong> subfamily 1, group D, member 1
This gene encodes a transcription factor that is a member of the nuclear trong>receptortrong> subfamily 1. The encoded protetrong>introng> is a ligand-sensitive transcription factor that negatively regulates the expression of core clock protetrong>introng>s. trong>Introng> particular this protetrong>introng> represses the circadian clock transcription factor aryl hydrocarbon trong>receptortrong> nuclear translocator-like protetrong>introng> 1 (ARNTL). This protetrong>introng> may also be trong>introng>volved trong>introng> regulattrong>introng>g genes that function trong>introng> metabolic, trong>introng>flammatory and cardiovascular processes. [provided by RefSeq, Jan 2013]
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nuclear trong>receptortrong> subfamily 1, group D, member 2
This gene encodes a member of the nuclear hormone trong>receptortrong> family, specifically the NR1 subfamily of trong>receptortrong>s. The encoded protetrong>introng> functions as a transcriptional repressor and may play a role trong>introng> circadian rhythms and carbohydrate and lipid metabolism. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]
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opioid growth factor trong>receptortrong>
The protetrong>introng> encoded by this gene is a trong>receptortrong> for opioid growth factor (OGF), also known as [Met(5)]-enkephaltrong>introng>. OGF is a negative regulator of cell proliferation and tissue organization trong>introng> a variety of processes. The encoded unbound trong>receptortrong> for OGF has been localized to the outer nuclear envelope, where it btrong>introng>ds OGF and is translocated trong>introng>to the nucleus. The codtrong>introng>g sequence of this gene contatrong>introng>s a polymorphic region of 60 nt tandem imperfect repeat units. Several transcripts contatrong>introng>trong>introng>g between zero and eight repeat units have been reported. [provided by RefSeq, Jul 2008]
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vomeronasal 2 trong>receptortrong> 10 pseudogene
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protetrong>introng> tyrostrong>introng>e phosphatase, non-trong>receptortrong> type 18 (bratrong>introng>-derived)
The protetrong>introng> encoded by this gene is a member of the protetrong>introng> tyrostrong>introng>e phosphatase (PTP) family. PTPs are known to be signaltrong>introng>g molecules that regulate a variety of cellular processes trong>introng>cludtrong>introng>g cell growth, differentiation, the mitotic cycle, and oncogenic transformation. This PTP contatrong>introng>s a PEST motif, which often serves as a protetrong>introng>-protetrong>introng> trong>introng>teraction domatrong>introng>, and may be related to protetrong>introng> trong>introng>tracellular half-live. This protetrong>introng> can differentially dephosphorylate autophosphorylated tyrostrong>introng>e ktrong>introng>ases that are overexpressed trong>introng> tumor tissues, and it appears to regulate HER2, a member of the epidermal growth factor trong>receptortrong> family of trong>receptortrong> tyrostrong>introng>e ktrong>introng>ases. Two transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
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protetrong>introng> tyrostrong>introng>e phosphatase, non-trong>receptortrong> type 13 (APO-1/CD95 (Fas)-associated phosphatase)
The protetrong>introng> encoded by this gene is a member of the protetrong>introng> tyrostrong>introng>e phosphatase (PTP) family. PTPs are signaltrong>introng>g molecules that regulate a variety of cellular processes trong>introng>cludtrong>introng>g cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP is a large trong>introng>tracellular protetrong>introng>. It has a catalytic PTP domatrong>introng> at its C-termtrong>introng>us and two major structural domatrong>introng>s: a region with five PDZ domatrong>introng>s and a FERM domatrong>introng> that btrong>introng>ds to plasma membrane and cytoskeletal elements. This PTP was found to trong>introng>teract with, and dephosphorylate, Fas trong>receptortrong> and IkappaBalpha through the PDZ domatrong>introng>s. This suggests it has a role trong>introng> Fas mediated programmed cell death. This PTP was also shown to trong>introng>teract with GTPase-activattrong>introng>g protetrong>introng>, and thus may function as a regulator of Rho signaltrong>introng>g pathways. Four alternatively spliced transcript variants, which encode disttrong>introng>ct protetrong>introng>s, have been reported. [provided by RefSeq, Oct 2008]
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protetrong>introng> tyrostrong>introng>e phosphatase, non-trong>receptortrong> type 12
The protetrong>introng> encoded by this gene is a member of the protetrong>introng> tyrostrong>introng>e phosphatase (PTP) family. PTPs are signaltrong>introng>g molecules that regulate a variety of cellular processes trong>introng>cludtrong>introng>g cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contatrong>introng>s a C-termtrong>introng>al PEST motif, which serves as a protetrong>introng>-protetrong>introng> trong>introng>teraction domatrong>introng>, and may regulate protetrong>introng> trong>introng>tracellular half-life. This PTP was found to btrong>introng>d and dephosphorylate the product of the oncogene c-ABL and thus may play a role trong>introng> oncogenesis. This PTP was also shown to trong>introng>teract with, and dephosphorylate, various products related to cytoskeletal structure and cell adhesion, such as p130 (Cas), CAKtrong>betatrong>/PTK2B, PSTPIP1, and paxilltrong>introng>. This suggests it has a regulatory role trong>introng> controlltrong>introng>g cell shape and mobility. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g disttrong>introng>ct isoforms. [provided by RefSeq, Oct 2008]
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protetrong>introng> tyrostrong>introng>e phosphatase, non-trong>receptortrong> type 11
The protetrong>introng> encoded by this gene is a member of the protetrong>introng> tyrostrong>introng>e phosphatase (PTP) family. PTPs are known to be signaltrong>introng>g molecules that regulate a variety of cellular processes trong>introng>cludtrong>introng>g cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contatrong>introng>s two tandem Src homology-2 domatrong>introng>s, which function as phospho-tyrostrong>introng>e btrong>introng>dtrong>introng>g domatrong>introng>s and mediate the trong>introng>teraction of this PTP with its substrates. This PTP is widely expressed trong>introng> most tissues and plays a regulatory role trong>introng> various cell signaltrong>introng>g events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations trong>introng> this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. [provided by RefSeq, Aug 2016]
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protetrong>introng> tyrostrong>introng>e phosphatase, non-trong>receptortrong> type 14
The protetrong>introng> encoded by this gene is a member of the protetrong>introng> tyrostrong>introng>e phosphatase (PTP) family. PTPs are known to be signaltrong>introng>g molecules that regulate a variety of cellular processes trong>introng>cludtrong>introng>g cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contatrong>introng>s an N-termtrong>introng>al noncatalytic domatrong>introng> similar to that of band 4.1 superfamily cytoskeleton-associated protetrong>introng>s, which suggested the membrane or cytoskeleton localization of this protetrong>introng>. It appears to regulate lymphatic development trong>introng> mammals, and a loss of function mutation has been found trong>introng> a ktrong>introng>dred with a lymphedema-choanal atresia. [provided by RefSeq, Sep 2010]
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lysophosphatidic acid trong>receptortrong> 1
The trong>introng>tegral membrane protetrong>introng> encoded by this gene is a lysophosphatidic acid (LPA) trong>receptortrong> from a group known as EDG trong>receptortrong>s. These trong>receptortrong>s are members of the G protetrong>introng>-coupled trong>receptortrong> superfamily. Utilized by LPA for cell signaltrong>introng>g, EDG trong>receptortrong>s mediate diverse biologic functions, trong>introng>cludtrong>introng>g proliferation, platelet aggregation, smooth muscle contraction, trong>introng>hibition of neuroblastoma cell differentiation, chemotaxis, and tumor cell trong>introng>vasion. Many transcript variants encodtrong>introng>g a few different isoforms have been identified for this gene. [provided by RefSeq, Oct 2020]
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olfactory trong>receptortrong>, family 52, subfamily N, member 4 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 52, subfamily N, member 5
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 52, subfamily N, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 52, subfamily N, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily R, member 1 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jun 2015]
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IGF-like family trong>receptortrong> 1 pseudogene
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aryl hydrocarbon trong>receptortrong> pseudogene
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olfactory trong>receptortrong>, family 1, subfamily S, member 1 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jun 2015]
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olfactory trong>receptortrong>, family 1, subfamily S, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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Fc fragment of IgE, high afftrong>introng>ity I, trong>receptortrong> for; gamma polypeptide
The high afftrong>introng>ity IgE trong>receptortrong> is a key molecule trong>introng>volved trong>introng> allergic reactions. It is a tetramer composed of 1 alpha, 1 trong>betatrong>, and 2 gamma trong>chatrong>introng>trong>s. The gamma trong>chatrong>introng>trong>s are also subunits of other Fc trong>receptortrong>s. [provided by RefSeq, Jul 2008]
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Fc fragment of IgE, high afftrong>introng>ity I, trong>receptortrong> for; alpha polypeptide
The immunoglobultrong>introng> epsilon trong>receptortrong> (IgE trong>receptortrong>) is the trong>introng>itiator of the allergic response. When two or more high-afftrong>introng>ity IgE trong>receptortrong>s are brought together by allergen-bound IgE molecules, mediators such as histamtrong>introng>e that are responsible for allergy symptoms are released. This trong>receptortrong> is comprised of an alpha subunit, a trong>betatrong> subunit, and two gamma subunits. The protetrong>introng> encoded by this gene represents the alpha subunit. [provided by RefSeq, Aug 2011]
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olfactory trong>receptortrong>, family 52, subfamily H, member 1 pseudogene
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olfactory trong>receptortrong>, family 56, subfamily A, member 1 pseudogene
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olfactory trong>receptortrong>, family 51, subfamily B, member 2 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily D, member 12 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 20 pseudogene
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ligand dependent nuclear trong>receptortrong> trong>introng>teracttrong>introng>g factor 1
Predicted to enable nuclear rettrong>introng>oic acid trong>receptortrong> btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> dosage compensation by trong>introng>activation of X chromosome. Located trong>introng> centriolar satellite; chromosome, telomeric region; and nuclear lumen. Implicated trong>introng> facioscapulohumeral muscular dystrophy 3. [provided by Alliance of Genome Resources, Mar 2025]
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thyroid hormone trong>receptortrong> associated protetrong>introng> 3 pseudogene
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vomeronasal 1 trong>receptortrong> 94 pseudogene
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macrophage trong>receptortrong> with collagenous structure
The protetrong>introng> encoded by this gene is a member of the class A scavenger trong>receptortrong> family and is part of the trong>introng>nate antimicrobial immune system. The protetrong>introng> may btrong>introng>d both Gram-negative and Gram-positive bacteria via an extracellular, C-termtrong>introng>al, scavenger trong>receptortrong> cystetrong>introng>e-rich (SRCR) domatrong>introng>. trong>Introng> addition to short cytoplasmic and transmembrane domatrong>introng>s, there is an extracellular spacer domatrong>introng> and a long, extracellular collagenous domatrong>introng>. The protetrong>introng> may form a trimeric molecule by the association of the collagenous domatrong>introng>s of three identical polypeptide trong>chatrong>introng>trong>s. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 96 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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neuropeptide Y trong>receptortrong> Y2
Predicted to enable calcium channel regulator activity and neuropeptide Y trong>receptortrong> activity. trong>Introng>volved trong>introng> cardiac left ventricle morphogenesis and outflow tract morphogenesis. Located trong>introng> cilium. Implicated trong>introng> Hunttrong>introng>gton's disease; morbid obesity; and obesity. Biomarker of peripheral artery disease and temporal lobe epilepsy. [provided by Alliance of Genome Resources, Mar 2025]
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trong>introng>terleuktrong>introng> 18 trong>receptortrong> accessory protetrong>introng>
The protetrong>introng> encoded by this gene is an accessory subunit of the heterodimeric trong>receptortrong> for trong>introng>terleuktrong>introng> 18 (IL18), a protrong>introng>flammatory cytoktrong>introng>e trong>introng>volved trong>introng> trong>introng>ductrong>introng>g cell-mediated immunity. This protetrong>introng> enhances the IL18-btrong>introng>dtrong>introng>g activity of the IL18 trong>receptortrong> and plays a role trong>introng> signaltrong>introng>g by IL18. Mutations trong>introng> this gene are associated with Crohn's disease and trong>introng>flammatory bowel disease, and susceptibility to celiac disease and leprosy. Alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]
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olfactory trong>receptortrong>, family 4, subfamily P, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong> 4F6-like
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olfactory trong>receptortrong>, family 4, subfamily C, member 14 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 157 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 6, subfamily V, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 106 pseudogene
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cannabtrong>introng>oid trong>receptortrong> 1 (bratrong>introng>)
This gene encodes one of two cannabtrong>introng>oid trong>receptortrong>s. The cannabtrong>introng>oids, prtrong>introng>cipally delta-9-tetrahydrocannabtrong>introng>ol and synthetic analogs, are psychoactive trong>introng>gredients of marijuana. The cannabtrong>introng>oid trong>receptortrong>s are members of the guantrong>introng>e-nucleotide-btrong>introng>dtrong>introng>g protetrong>introng> (G-protetrong>introng>) coupled trong>receptortrong> family, which trong>introng>hibit adenylate cyclase activity trong>introng> a dose-dependent, stereoselective and pertussis toxtrong>introng>-sensitive manner. The two trong>receptortrong>s have been found to be trong>introng>volved trong>introng> the cannabtrong>introng>oid-trong>introng>duced CNS effects (trong>introng>cludtrong>introng>g alterations trong>introng> mood and cognition) experienced by users of marijuana. Multiple transcript variants encodtrong>introng>g two different protetrong>introng> isoforms have been described for this gene. [provided by RefSeq, May 2009]
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cannabtrong>introng>oid trong>receptortrong> 2 (macrophage)
The cannabtrong>introng>oid delta-9-tetrahydrocannabtrong>introng>ol is the prtrong>introng>cipal psychoactive trong>introng>gredient of marijuana. The protetrong>introng>s encoded by this gene and the cannabtrong>introng>oid trong>receptortrong> 1 (bratrong>introng>) (CNR1) gene have the characteristics of a guantrong>introng>e nucleotide-btrong>introng>dtrong>introng>g protetrong>introng> (G-protetrong>introng>)-coupled trong>receptortrong> for cannabtrong>introng>oids. They trong>introng>hibit adenylate cyclase activity trong>introng> a dose-dependent, stereoselective, and pertussis toxtrong>introng>-sensitive manner. These protetrong>introng>s have been found to be trong>introng>volved trong>introng> the cannabtrong>introng>oid-trong>introng>duced CNS effects (trong>introng>cludtrong>introng>g alterations trong>introng> mood and cognition) experienced by users of marijuana. The cannabtrong>introng>oid trong>receptortrong>s are members of family 1 of the G-protetrong>introng>-coupled trong>receptortrong>s. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily A, member 15 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 6, subfamily C, member 2 pseudogene
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adhesion G protetrong>introng>-coupled trong>receptortrong> A1 antisense RNA 1
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tyrostrong>introng>e-protetrong>introng> phosphatase non-trong>receptortrong> type 20
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cannabtrong>introng>oid trong>receptortrong> trong>introng>teracttrong>introng>g protetrong>introng> 1
This gene encodes a protetrong>introng> that trong>introng>teracts with the C-termtrong>introng>al tail of cannabtrong>introng>oid trong>receptortrong> 1. Two transcript variants encodtrong>introng>g different isoforms have been described for this gene. [provided by RefSeq, Jul 2013]
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olfactory trong>receptortrong>, family 2, subfamily T, member 34
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily T, member 35
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily T, member 33
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 38 pseudogene
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olfactory trong>receptortrong>, family 5, subfamily P, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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glutamate trong>receptortrong>, ionotropic, delta 2 (Grid2) trong>introng>teracttrong>introng>g protetrong>introng>
Glutamate trong>receptortrong> delta-2 (GRID2; MIM 602368) is predomtrong>introng>antly expressed at parallel fiber-Purktrong>introng>je cell postsynapses and plays crucial roles trong>introng> synaptogenesis and synaptic plasticity. GRID2IP1 trong>introng>teracts with GRID2 and may control GRID2 signaltrong>introng>g trong>introng> Purktrong>introng>je cells (Matsuda et al., 2006 [PubMed 16835239]).[supplied by OMIM, Mar 2008]
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5-hydroxytryptamtrong>introng>e (serotontrong>introng>) trong>receptortrong> 3, family member E pseudogene
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olfactory trong>receptortrong>, family 4, subfamily A, member 47
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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gamma-amtrong>introng>obutyric acid (GABA) B trong>receptortrong>, 1
This gene encodes a trong>receptortrong> for gamma-amtrong>introng>obutyric acid (GABA), which is the matrong>introng> trong>introng>hibitory neurotransmitter trong>introng> the mammalian central nervous system. This trong>receptortrong> functions as a heterodimer with GABA(B) trong>receptortrong> 2. Defects trong>introng> this gene may underlie bratrong>introng> disorders such as schizophrenia and epilepsy. Alternative splictrong>introng>g generates multiple transcript variants, but the full-length nature of some of these variants has not been determtrong>introng>ed. [provided by RefSeq, Jan 2016]
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G protetrong>introng>-coupled trong>receptortrong>, class C, group 6, member A
Members of family C of the G protetrong>introng>-coupled trong>receptortrong> (GPCR) superfamily, such as GPRC6A, are characterized by an evolutionarily conserved amtrong>introng>o acid-senstrong>introng>g motif ltrong>introng>ked to an trong>introng>tramembranous 7-transmembrane loop region. Several members of GPCR family C, trong>introng>cludtrong>introng>g GPRC6A, also have a long N-termtrong>introng>al domatrong>introng> (summary by Pi et al., 2005 [PubMed 16199532]).[supplied by OMIM, Nov 2010]
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olfactory trong>receptortrong>, family 2, subfamily AS, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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aryl-hydrocarbon trong>receptortrong> repressor
The protetrong>introng> encoded by this gene participates trong>introng> the aryl hydrocarbon trong>receptortrong> (AhR) signaltrong>introng>g cascade, which mediates dioxtrong>introng> toxicity, and is trong>introng>volved trong>introng> regulation of cell growth and differentiation. It functions as a feedback modulator by represstrong>introng>g AhR-dependent gene expression. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been described for this gene. [provided by RefSeq, Jun 2011]
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leukocyte immunoglobultrong>introng>-like trong>receptortrong> subfamily B member 3
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vomeronasal 1 trong>receptortrong> 65 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily J, member 3 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily W, member 1 pseudogene
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olfactory trong>receptortrong>, family 8, subfamily J, member 2 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jan 2017]
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olfactory trong>receptortrong>, family 8, subfamily J, member 3
Predicted to enable odorant btrong>introng>dtrong>introng>g activity and olfactory trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway and sensory perception of smell. Predicted to be located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong>, family 2, subfamily G, member 6 pseudogene
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olfactory trong>receptortrong>, family 8, subfamily J, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily J, member 3 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily B, member 6 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily Y, member 1 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily B, member 2 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily C, member 3
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily C, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 51, subfamily A, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 105 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 2 trong>receptortrong> 18 pseudogene
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vomeronasal 1 trong>receptortrong> 66 pseudogene
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olfactory trong>receptortrong>, family 7, subfamily E, member 53 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 52, subfamily E, member 7 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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G protetrong>introng>-coupled trong>receptortrong> 146
Enables G protetrong>introng>-coupled trong>receptortrong> activity. trong>Introng>volved trong>introng> adenylate cyclase-trong>introng>hibittrong>introng>g G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway and regulation of cholesterol biosynthetic process. Is active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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G protetrong>introng>-coupled trong>receptortrong> 142
GPR142 is a member of the rhodopstrong>introng> family of G protetrong>introng>-coupled trong>receptortrong>s (GPRs) (Fredriksson et al., 2003 [PubMed 14623098]).[supplied by OMIM, Mar 2008]
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G protetrong>introng>-coupled trong>receptortrong> 143
This gene encodes a protetrong>introng> that btrong>introng>ds to heterotrimeric G protetrong>introng>s and is targeted to melanosomes trong>introng> pigment cells. This protetrong>introng> is thought to be trong>introng>volved trong>introng> trong>introng>tracellular signal transduction mechanisms. Mutations trong>introng> this gene cause ocular albtrong>introng>ism type 1, also referred to as Nettleship-Falls type ocular albtrong>introng>ism, a severe visual disorder. A related pseudogene has been identified on chromosome Y. [provided by RefSeq, Dec 2009]
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G protetrong>introng>-coupled trong>receptortrong> 148
Predicted to enable odorant btrong>introng>dtrong>introng>g activity and olfactory trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> detection of chemical stimulus trong>introng>volved trong>introng> sensory perception of smell. Located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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G protetrong>introng>-coupled trong>receptortrong> 149
This gene encodes a seven-transmembrane G protetrong>introng> coupled trong>receptortrong> (GPCR) class A family member. Although categorized as a class A GPCR, the encoded protetrong>introng> lacks the first two charged amtrong>introng>o acids of the highly conserved Asp-Arg-Tyr (DRY) motif found trong>introng> the third transmembrane helix of class A trong>receptortrong>s which is important for efficient G protetrong>introng>-coupled signal transduction. Mice with a knockout of the orthologous gene are viable and have normal maturation of the ovarian follicle, but show enhanced fertility and ovulation. All GPCRs have a common structural architecture consisttrong>introng>g of seven transmembrane alpha-helices trong>introng>terconnected by three extracellular and three trong>introng>tracellular loops. A general feature of GPCR signaltrong>introng>g is agonist-trong>introng>duced conformational changes trong>introng> the trong>receptortrong>, leadtrong>introng>g to activation of the heterotrimeric G protetrong>introng>s, which consist of the guantrong>introng>e nucleotide-btrong>introng>dtrong>introng>g G-alpha subunit and the dimeric G-trong>betatrong>-gamma subunits. The activated G protetrong>introng>s then btrong>introng>d to and activate numerous downstream effector protetrong>introng>s, which generate second messengers that mediate a broad range of cellular and physiological processes. [provided by RefSeq, Jul 2017]
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trong>receptortrong> (TNFRSF)-trong>introng>teracttrong>introng>g sertrong>introng>e-threontrong>introng>e ktrong>introng>ase 1
This gene encodes a member of the trong>receptortrong>-trong>introng>teracttrong>introng>g protetrong>introng> (RIP) family of sertrong>introng>e/threontrong>introng>e protetrong>introng> ktrong>introng>ases. The encoded protetrong>introng> plays a role trong>introng> trong>introng>flammation and cell death trong>introng> response to tissue damage, pathogen recognition, and as part of developmental regulation. RIPK1/RIPK3 ktrong>introng>ase-mediated necrosis is referred to as necroptosis. Genetic disruption of this gene trong>introng> mice results trong>introng> death shortly after birth. [provided by RefSeq, Aug 2017]
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trong>receptortrong>-trong>introng>teracttrong>introng>g sertrong>introng>e-threontrong>introng>e ktrong>introng>ase 3
The product of this gene is a member of the trong>receptortrong>-trong>introng>teracttrong>introng>g protetrong>introng> (RIP) family of sertrong>introng>e/threontrong>introng>e protetrong>introng> ktrong>introng>ases, and contatrong>introng>s a C-termtrong>introng>al domatrong>introng> unique from other RIP family members. The encoded protetrong>introng> is predomtrong>introng>antly localized to the cytoplasm, and can undergo nucleocytoplasmic shuttltrong>introng>g dependent on novel nuclear localization and export signals. It is a component of the tumor necrosis factor (TNF) trong>receptortrong>-I signaltrong>introng>g complex, and can trong>introng>duce apoptosis and weakly activate the NF-kappaB transcription factor. [provided by RefSeq, Jul 2008]
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trong>receptortrong>-trong>introng>teracttrong>introng>g sertrong>introng>e-threontrong>introng>e ktrong>introng>ase 2
This gene encodes a member of the trong>receptortrong>-trong>introng>teracttrong>introng>g protetrong>introng> (RIP) family of sertrong>introng>e/threontrong>introng>e protetrong>introng> ktrong>introng>ases. The encoded protetrong>introng> contatrong>introng>s a C-termtrong>introng>al caspase activation and recruitment domatrong>introng> (CARD), and is a component of signaltrong>introng>g complexes trong>introng> both the trong>introng>nate and adaptive immune pathways. It is a potent activator of NF-kappaB and trong>introng>ducer of apoptosis trong>introng> response to various stimuli. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 13, subfamily C, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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nerve growth factor trong>receptortrong> (TNFRSF16) associated protetrong>introng> 1
Enables identical protetrong>introng> btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> negative regulation of protetrong>introng> ubiquittrong>introng>ation and signal transduction. Predicted to act upstream of or withtrong>introng> extrtrong>introng>sic apoptotic signaltrong>introng>g pathway via death domatrong>introng> trong>receptortrong>s. Located trong>introng> cytosol. [provided by Alliance of Genome Resources, Mar 2025]
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G protetrong>introng>-coupled trong>receptortrong> 165 pseudogene
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olfactory trong>receptortrong>, family 5, subfamily J, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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G protetrong>introng>-coupled trong>receptortrong> 152
Enables identical protetrong>introng> btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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G protetrong>introng>-coupled trong>receptortrong> 150
This gene encodes an orphan member of the class A rhodopstrong>introng>-like family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCRs). Withtrong>introng> the rhodopstrong>introng>-like family, this gene is a member of the vasopresstrong>introng>-like subfamily that also trong>introng>cludes vasopresstrong>introng> and oxytoctrong>introng> trong>receptortrong>s. The silenctrong>introng>g of this gene, due to promoter methylation, is associated with ovarian cancer progression. All GPCRs have a transmembrane domatrong>introng> that trong>introng>cludes seven transmembrane alpha-helices. A general feature of GPCR signaltrong>introng>g is the agonist-trong>introng>duced conformational change trong>introng> the trong>receptortrong>, leadtrong>introng>g to activation of the heterotrimeric G protetrong>introng>. The activated G protetrong>introng> then btrong>introng>ds to and activates numerous downstream effector protetrong>introng>s, which generate second messengers that mediate a broad range of cellular and physiological processes. [provided by RefSeq, Jul 2017]
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G protetrong>introng>-coupled trong>receptortrong> 157
Predicted to enable G protetrong>introng>-coupled trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> adenylate cyclase-activattrong>introng>g G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway; phospholipase C-activattrong>introng>g G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway; and radial glial cell differentiation. Predicted to be located trong>introng> ciliary membrane. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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nuclear trong>receptortrong> btrong>introng>dtrong>introng>g factor 2 pseudogene 5
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coxsackievirus and adenovirus trong>receptortrong>-like
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olfactory trong>receptortrong>, family 4, subfamily L, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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adhesion G protetrong>introng>-coupled trong>receptortrong> L4
Predicted to enable G protetrong>introng>-coupled trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> adenylate cyclase-activattrong>introng>g G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway. Predicted to be located trong>introng> cytoplasmic vesicle. Predicted to be active trong>introng> plasma membrane. Biomarker of glioblastoma and hypertrophic cardiomyopathy. [provided by Alliance of Genome Resources, Mar 2025]
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adhesion G protetrong>introng>-coupled trong>receptortrong> L2
This gene encodes a member of the latrophiltrong>introng> subfamily of G-protetrong>introng> coupled trong>receptortrong>s. The encoded protetrong>introng> participates trong>introng> the regulation of exocytosis. The proprotetrong>introng> is thought to be further cleaved withtrong>introng> a cystetrong>introng>e-rich G-protetrong>introng>-coupled trong>receptortrong> proteolysis site trong>introng>to two trong>chatrong>introng>trong>s that are non-covalently bound at the cell membrane. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jul 2014]
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adhesion G protetrong>introng>-coupled trong>receptortrong> L3
This gene encodes a member of the latrophiltrong>introng> subfamily of G-protetrong>introng> coupled trong>receptortrong>s (GPCR). Latrophiltrong>introng>s may function trong>introng> both cell adhesion and signal transduction. trong>Introng> experiments with non-human species, endogenous proteolytic cleavage withtrong>introng> a cystetrong>introng>e-rich GPS (G-protetrong>introng>-coupled-trong>receptortrong> proteolysis site) domatrong>introng> resulted trong>introng> two subunits (a large extracellular N-termtrong>introng>al cell adhesion subunit and a subunit with substantial similarity to the secrettrong>introng>/calcitontrong>introng> family of GPCRs) betrong>introng>g non-covalently bound at the cell membrane. [provided by RefSeq, Jul 2008]
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adhesion G protetrong>introng>-coupled trong>receptortrong> L1
This gene encodes a member of the latrophiltrong>introng> subfamily of G-protetrong>introng> coupled trong>receptortrong>s (GPCR). Latrophiltrong>introng>s may function trong>introng> both cell adhesion and signal transduction. trong>Introng> experiments with non-human species, endogenous proteolytic cleavage withtrong>introng> a cystetrong>introng>e-rich GPS (G-protetrong>introng>-coupled-trong>receptortrong> proteolysis site) domatrong>introng> resulted trong>introng> two subunits (a large extracellular N-termtrong>introng>al cell adhesion subunit and a subunit with substantial similarity to the secrettrong>introng>/calcitontrong>introng> family of GPCRs) betrong>introng>g non-covalently bound at the cell membrane. Latrophiltrong>introng>-1 has been shown to recruit the neurotoxtrong>introng> from black widow spider venom, alpha-latrotoxtrong>introng>, to the synapse plasma membrane. Alternative splictrong>introng>g results trong>introng> multiple variants encodtrong>introng>g disttrong>introng>ct isoforms.[provided by RefSeq, Oct 2008]
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protetrong>introng> tyrostrong>introng>e phosphatase, trong>receptortrong> type, f polypeptide (PTPRF), trong>introng>teracttrong>introng>g protetrong>introng> (liprtrong>introng>), alpha 4
PPFIA4, or liprtrong>introng>-alpha-4, belongs to the liprtrong>introng>-alpha gene family. See liprtrong>introng>-alpha-1 (LIP1, or PPFIA1; MIM 611054) for background on liprtrong>introng>s.[supplied by OMIM, Mar 2008]
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olfactory trong>receptortrong>, family 11, subfamily K, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily Q, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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mitochondrial import trong>receptortrong> subunit TOM22 homolog pseudogene
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olfactory trong>receptortrong>, family 7, subfamily A, member 18 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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D(1B) dopamtrong>introng>e trong>receptortrong>-like
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olfactory trong>receptortrong>, family 5, subfamily J, member 7 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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progesttrong>introng> and adipoQ trong>receptortrong> family member IX
Predicted to enable signaltrong>introng>g trong>receptortrong> activity. Predicted to be located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong>, family 51, subfamily H, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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signal sequence trong>receptortrong>, gamma (translocon-associated protetrong>introng> gamma) pseudogene
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olfactory trong>receptortrong>, family 10, subfamily J, member 6 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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neuromedtrong>introng> B trong>receptortrong>
This gene encodes a 7-transmembrane G protetrong>introng>-coupled trong>receptortrong> that btrong>introng>ds neuromedtrong>introng> B, which is a growth factor and mitogen for gastrotrong>introng>testtrong>introng>al epithelial tissue and for normal and neoplastic lung. This trong>receptortrong> may play a role trong>introng> smooth muscle contraction, neuronal responses, and the regulation of cell growth. Antagonists of this trong>receptortrong> have a potential therapeutic use trong>introng> trong>introng>hibittrong>introng>g tumor cell growth. Polymorphisms trong>introng> this gene may be associated with a susceptibility for schizophrenia. Alternative splictrong>introng>g of this gene results trong>introng> multiple transcript variants. [provided by RefSeq, Apr 2016]
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olfactory trong>receptortrong>, family 6, subfamily M, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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ROS proto-oncogene 1 , trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase
This proto-oncogene, highly-expressed trong>introng> a variety of tumor cell ltrong>introng>es, belongs to the sevenless subfamily of tyrostrong>introng>e ktrong>introng>ase trong>introng>sultrong>introng> trong>receptortrong> genes. The protetrong>introng> encoded by this gene is a type I trong>introng>tegral membrane protetrong>introng> with tyrostrong>introng>e ktrong>introng>ase activity. The protetrong>introng> may function as a growth or differentiation factor trong>receptortrong>. [provided by RefSeq, Jul 2008]
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adiponecttrong>introng> trong>receptortrong> 2
The adiponecttrong>introng> trong>receptortrong>s, ADIPOR1 (MIM 607945) and ADIPOR2, serve as trong>receptortrong>s for globular and full-length adiponecttrong>introng> (MIM 605441) and mediate trong>introng>creased AMPK (see MIM 602739) and PPAR-alpha (PPARA; MIM 170998) ligand activities, as well as fatty acid oxidation and glucose uptake by adiponecttrong>introng> (Yamauchi et al., 2003 [PubMed 12802337]).[supplied by OMIM, Mar 2008]
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adiponecttrong>introng> trong>receptortrong> 1
This gene encodes a protetrong>introng> which acts as a trong>receptortrong> for adiponecttrong>introng>, a hormone secreted by adipocytes which regulates fatty acid catabolism and glucose levels. Btrong>introng>dtrong>introng>g of adiponecttrong>introng> to the encoded protetrong>introng> results trong>introng> activation of an AMP-activated ktrong>introng>ase signaltrong>introng>g pathway which affects levels of fatty acid oxidation and trong>introng>sultrong>introng> sensitivity. A pseudogene of this gene is located on chromosome 14. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2014]
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olfactory trong>receptortrong>, family 7, subfamily E, member 47 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. The nomenclature assigned to the olfactory trong>receptortrong> genes and protetrong>introng>s for this organism is trong>introng>dependent of other organisms. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 105 pseudogene
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neuronal pentraxtrong>introng> trong>receptortrong>
This gene encodes a protetrong>introng> similar to the rat neuronal pentraxtrong>introng> trong>receptortrong>. The rat pentraxtrong>introng> trong>receptortrong> is an trong>introng>tegral membrane protetrong>introng> that is thought to mediate neuronal uptake of the snake venom toxtrong>introng>, taipoxtrong>introng>, and its transport trong>introng>to the synapses. Studies trong>introng> rat trong>introng>dicate that translation of this mRNA trong>introng>itiates at a non-AUG (CUG) codon. This may also be true for mouse and human, based on strong sequence conservation amongst these species. [provided by RefSeq, Jul 2008]
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estrogen-related trong>receptortrong> alpha pseudogene 2
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estrogen-related trong>receptortrong> alpha pseudogene 1
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low density lipoprotetrong>introng> trong>receptortrong> class A domatrong>introng> contatrong>introng>trong>introng>g 1
Predicted to be located trong>introng> membrane. [provided by Alliance of Genome Resources, Mar 2025]
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low density lipoprotetrong>introng> trong>receptortrong> class A domatrong>introng> contatrong>introng>trong>introng>g 2
Predicted to be located trong>introng> membrane. [provided by Alliance of Genome Resources, Mar 2025]
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low density lipoprotetrong>introng> trong>receptortrong> class A domatrong>introng> contatrong>introng>trong>introng>g 3
Predicted to enable amyloid-trong>betatrong> btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> trong>receptortrong>-mediated endocytosis. Predicted to act upstream of or withtrong>introng> regulation of protetrong>introng> processtrong>introng>g. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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CGRP trong>receptortrong> component
This gene encodes a membrane protetrong>introng> that functions as part of a trong>receptortrong> complex for a small neuropeptide that trong>introng>creases trong>introng>tracellular cAMP levels. Alternate transcriptional splice variants, encodtrong>introng>g different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 9, subfamily K, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 13, subfamily C, member 6 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 13, subfamily G, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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tyrostrong>introng>e-protetrong>introng> phosphatase non-trong>receptortrong> type 23-like
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gonadotroptrong>introng>-releastrong>introng>g hormone (type 2) trong>receptortrong> 2 pseudogene 1
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trong>introng>terleuktrong>introng>-1 trong>receptortrong>-associated ktrong>introng>ase 1 btrong>introng>dtrong>introng>g protetrong>introng> 1
Predicted to enable signaltrong>introng>g adaptor activity. Predicted to be trong>introng>volved trong>introng> canonical NF-kappaB signal transduction. Predicted to be located trong>introng> cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong>, family 4, subfamily D, member 7 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 11, subfamily G, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 52, subfamily P, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily S, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 52, subfamily X, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 51, subfamily B, member 3 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 51, subfamily A, member 10 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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G protetrong>introng>-coupled trong>receptortrong> 125 pseudogene
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colony stimulattrong>introng>g factor 1 trong>receptortrong>
The protetrong>introng> encoded by this gene is the trong>receptortrong> for colony stimulattrong>introng>g factor 1, a cytoktrong>introng>e which controls the production, differentiation, and function of macrophages. This trong>receptortrong> mediates most if not all of the biological effects of this cytoktrong>introng>e. Ligand btrong>introng>dtrong>introng>g activates the trong>receptortrong> ktrong>introng>ase through a process of oligomerization and transphosphorylation. The encoded protetrong>introng> is a tyrostrong>introng>e ktrong>introng>ase transmembrane trong>receptortrong> and member of the CSF1/PDGF trong>receptortrong> family of tyrostrong>introng>e-protetrong>introng> ktrong>introng>ases. Mutations trong>introng> this gene have been associated with a predisposition to myeloid malignancy. The first trong>introng>tron of this gene contatrong>introng>s a transcriptionally trong>introng>active ribosomal protetrong>introng> L7 processed pseudogene oriented trong>introng> the opposite direction. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. Expression of a splice variant from an LTR promoter has been found trong>introng> Hodgktrong>introng> lymphoma (HL), HL cell ltrong>introng>es and anaplastic large cell lymphoma. [provided by RefSeq, Mar 2017]
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olfactory trong>receptortrong>, family 7, subfamily A, member 5
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 82 pseudogene
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vomeronasal 1 trong>receptortrong> 17 pseudogene
Predicted to enable pheromone trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway; response to pheromone; and sensory perception of chemical stimulus. Predicted to act upstream of or withtrong>introng> hematopoietic progenitor cell differentiation. Predicted to be located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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glucagon trong>receptortrong>
The protetrong>introng> encoded by this gene is a glucagon trong>receptortrong> that is important trong>introng> controlltrong>introng>g blood glucose levels. Defects trong>introng> this gene are a cause of non-trong>introng>sultrong>introng>-dependent diabetes mellitus (NIDDM).[provided by RefSeq, Jan 2010]
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olfactory trong>receptortrong>, family 7, subfamily E, member 84 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 15 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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DCC netrtrong>introng> 1 trong>receptortrong>
This gene encodes a netrtrong>introng> 1 trong>receptortrong>. The transmembrane protetrong>introng> is a member of the immunoglobultrong>introng> superfamily of cell adhesion molecules, and mediates axon guidance of neuronal growth cones towards sources of netrtrong>introng> 1 ligand. The cytoplasmic tail trong>introng>teracts with the tyrostrong>introng>e ktrong>introng>ases Src and focal adhesion ktrong>introng>ase (FAK, also known as PTK2) to mediate axon attraction. The protetrong>introng> partially localizes to lipid rafts, and trong>introng>duces apoptosis trong>introng> the absence of ligand. The protetrong>introng> functions as a tumor suppressor, and is frequently mutated or downregulated trong>introng> colorectal cancer and esophageal carctrong>introng>oma. [provided by RefSeq, Oct 2009]
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thyroid hormone trong>receptortrong>, alpha
The protetrong>introng> encoded by this gene is a nuclear hormone trong>receptortrong> for triiodothyrontrong>introng>e. It is one of the several trong>receptortrong>s for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies trong>introng> mice suggest that the different trong>receptortrong>s, while havtrong>introng>g certatrong>introng> extent of redundancy, may mediate different functions of thyroid hormone. Alternatively spliced transcript variants encodtrong>introng>g disttrong>introng>ct isoforms have been reported. [provided by RefSeq, Jul 2008]
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proltrong>introng>e-rich trong>receptortrong>-like protetrong>introng> ktrong>introng>ase PERK2
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vomeronasal 1 trong>receptortrong> 78 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily F, member 29
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily F, member 21
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 8, subfamily B, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 8, subfamily B, member 3
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 8, subfamily B, member 4 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jul 2015]
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olfactory trong>receptortrong>, family 8, subfamily B, member 8
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily B, member 12 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily A, member 42 pseudogene
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olfactory trong>receptortrong>, family 10, subfamily Q, member 1 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily AT, member 4 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily F, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 52, subfamily B, member 4 pseudogene
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olfactory trong>receptortrong>, family 51, subfamily G, member 2 pseudogene
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trong>receptortrong>-like tyrostrong>introng>e ktrong>introng>ase
The protetrong>introng> encoded by this gene is an atypical member of the family of growth factor trong>receptortrong> protetrong>introng> tyrostrong>introng>e ktrong>introng>ases, differtrong>introng>g from other members at a number of conserved residues trong>introng> the activation and nucleotide btrong>introng>dtrong>introng>g domatrong>introng>s. This gene product belongs to a subfamily whose members do not appear to be regulated by phosphorylation trong>introng> the activation segment. It has been suggested that mediation of biological activity by recruitment of a signaltrong>introng>g-competent auxiliary protetrong>introng> may occur through an as yet uncharacterized mechanism. The encoded protetrong>introng> has a leuctrong>introng>e-rich extracellular domatrong>introng> with a WIF-type Wnt btrong>introng>dtrong>introng>g region, a strong>introng>gle transmembrane domatrong>introng>, and an trong>introng>tracellular tyrostrong>introng>e ktrong>introng>ase domatrong>introng>. This protetrong>introng> is trong>introng>volved trong>introng> stimulattrong>introng>g Wnt signaltrong>introng>g pathways such as the regulation of axon pathftrong>introng>dtrong>introng>g. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g disttrong>introng>ct isoforms. [provided by RefSeq, Feb 2012]
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vomeronasal 1 trong>receptortrong> 37 pseudogene
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formyl peptide trong>receptortrong> 1 pseudogene
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nuclear trong>receptortrong> coactivator 2
The protetrong>introng> encoded by this gene functions as a transcriptional coactivator for nuclear hormone trong>receptortrong>s, trong>introng>cludtrong>introng>g steroid, thyroid, rettrong>introng>oid, and vitamtrong>introng> D trong>receptortrong>s. The encoded protetrong>introng> acts as an trong>introng>termediary factor for the ligand-dependent activity of these nuclear trong>receptortrong>s, which regulate their target genes upon btrong>introng>dtrong>introng>g of cognate response elements. This gene has been found to be trong>introng>volved trong>introng> translocations that result trong>introng> fusions with other genes trong>introng> various cancers, trong>introng>cludtrong>introng>g the lystrong>introng>e acetyltransferase 6A (KAT6A) gene trong>introng> acute myeloid leukemia, the ETS variant 6 (ETV6) gene trong>introng> acute lymphoblastic leukemia, and the hes related family bHLH transcription factor with YRPW motif 1 (HEY1) gene trong>introng> mesenchymal chondrosarcoma. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Mar 2016]
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nuclear trong>receptortrong> coactivator 3
The protetrong>introng> encoded by this gene is a nuclear trong>receptortrong> coactivator that trong>introng>teracts with nuclear hormone trong>receptortrong>s to enhance their transcriptional activator functions. The encoded protetrong>introng> has histone acetyltransferase activity and recruits p300/CBP-associated factor and CREB btrong>introng>dtrong>introng>g protetrong>introng> as part of a multisubunit coactivation complex. This protetrong>introng> is trong>introng>itially found trong>introng> the cytoplasm but is translocated trong>introng>to the nucleus upon phosphorylation. Several transcript variants encodtrong>introng>g different isoforms have been found for this gene. trong>Introng> addition, a polymorphic repeat region is found trong>introng> the C-termtrong>introng>us of the encoded protetrong>introng>. [provided by RefSeq, Mar 2010]
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nuclear trong>receptortrong> coactivator 1
The protetrong>introng> encoded by this gene acts as a transcriptional coactivator for steroid and nuclear hormone trong>receptortrong>s. It is a member of the p160/steroid trong>receptortrong> coactivator (SRC) family and like other family members has histone acetyltransferase activity and contatrong>introng>s a nuclear localization signal, as well as bHLH and PAS domatrong>introng>s. The product of this gene btrong>introng>ds nuclear trong>receptortrong>s directly and stimulates the transcriptional activities trong>introng> a hormone-dependent fashion. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been identified. [provided by RefSeq, Jul 2008]
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nuclear trong>receptortrong> coactivator 6
The protetrong>introng> encoded by this gene is a transcriptional coactivator that can trong>introng>teract with nuclear hormone trong>receptortrong>s to enhance their transcriptional activator functions. This protetrong>introng> has been shown to be trong>introng>volved trong>introng> the hormone-dependent coactivation of several trong>receptortrong>s, trong>introng>cludtrong>introng>g prostanoid, rettrong>introng>oid, vitamtrong>introng> D3, thyroid hormone, and steroid trong>receptortrong>s. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been described for this gene. [provided by RefSeq, Jun 2011]
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nuclear trong>receptortrong> coactivator 7
Enables nuclear trong>receptortrong> btrong>introng>dtrong>introng>g activity and nuclear trong>receptortrong> coactivator activity. trong>Introng>volved trong>introng> positive regulation of transcription by RNA polymerase II. Predicted to be active trong>introng> nucleus. [provided by Alliance of Genome Resources, Mar 2025]
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nuclear trong>receptortrong> coactivator 4
This gene encodes an androgen trong>receptortrong> coactivator. The encoded protetrong>introng> trong>introng>teracts with the androgen trong>receptortrong> trong>introng> a ligand-dependent manner to enhance its transcriptional activity. Chromosomal translocations between this gene and the ret tyrostrong>introng>e ktrong>introng>ase gene, also located on chromosome 10, have been associated with papillary thyroid carctrong>introng>oma. Alternatively spliced transcript variants have been described. Pseudogenes are present on chromosomes 4, 5, 10, and 14. [provided by RefSeq, Feb 2009]
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nuclear trong>receptortrong> coactivator 5
This gene encodes a coregulator for the alpha and trong>betatrong> estrogen trong>receptortrong>s and the orphan nuclear trong>receptortrong> NR1D2. The protetrong>introng> localizes to the nucleus, and is thought to have both coactivator and corepressor functions. Its trong>introng>teraction with nuclear trong>receptortrong>s is trong>introng>dependent of the AF2 domatrong>introng> on the trong>receptortrong>s, which is known to regulate trong>introng>teraction with other cotrong>receptortrong>s. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2017]
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vomeronasal 1 trong>receptortrong> 81 pseudogene
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natural cytotoxicity triggertrong>introng>g trong>receptortrong> 3
The protetrong>introng> encoded by this gene is a natural cytotoxicity trong>receptortrong> (NCR) that may aid NK cells trong>introng> the lysis of tumor cells. The encoded protetrong>introng> trong>introng>teracts with CD3-zeta (CD247), a T-cell trong>receptortrong>. A strong>introng>gle nucleotide polymorphism trong>introng> the 5' untranslated region of this gene has been associated with mild malaria suceptibility. Three transcript variants encodtrong>introng>g different isoforms have been found for this gene.[provided by RefSeq, May 2010]
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natural cytotoxicity triggertrong>introng>g trong>receptortrong> 1
Predicted to be trong>introng>volved trong>introng> immune response-regulattrong>introng>g signaltrong>introng>g pathway. Predicted to act upstream of or withtrong>introng> defense response to virus and detection of virus. Predicted to be located trong>introng> cell surface. Predicted to be part of SWI/SNF complex. Predicted to be active trong>introng> plasma membrane. Biomarker of acquired immunodeficiency syndrome; anogenital venereal wart; hepatitis C; and lymphoproliferative syndrome. [provided by Alliance of Genome Resources, Mar 2025]
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progesterone trong>receptortrong>
This gene encodes a member of the steroid trong>receptortrong> superfamily. The encoded protetrong>introng> mediates the physiological effects of progesterone, which plays a central role trong>introng> reproductive events associated with the establishment and matrong>introng>tenance of pregnancy. This gene uses two disttrong>introng>ct promotors and translation start sites trong>introng> the first exon to produce several transcript variants, both protetrong>introng> codtrong>introng>g and non-protetrong>introng> codtrong>introng>g. Two of the isoforms (A and B) are identical except for an additional 165 amtrong>introng>o acids found trong>introng> the N-termtrong>introng>us of isoform B and mediate their own response genes and physiologic effects with little overlap. [provided by RefSeq, Sep 2015]
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IZUMO1 trong>receptortrong>, JUNO
Enables signaltrong>introng>g trong>receptortrong> activity. trong>Introng>volved trong>introng> fusion of sperm to egg plasma membrane trong>introng>volved trong>introng> strong>introng>gle fertilization. Located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong>, family 10, subfamily G, member 5 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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thyroid hormone trong>receptortrong> associated protetrong>introng> 3 pseudogene 1
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olfactory trong>receptortrong>, family 5, subfamily B, member 3
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily B, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily D, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily D, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily D, member 5
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily D, member 6
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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adhesion G protetrong>introng>-coupled trong>receptortrong> D2
Predicted to enable G protetrong>introng>-coupled trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> adenylate cyclase-activattrong>introng>g G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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adhesion G protetrong>introng>-coupled trong>receptortrong> D1
The adhesion G-protetrong>introng>-coupled trong>receptortrong>s (GPCRs), trong>introng>cludtrong>introng>g GPR133, are membrane-bound protetrong>introng>s with long N termtrong>introng>i contatrong>introng>trong>introng>g multiple domatrong>introng>s. GPCRs, or GPRs, contatrong>introng> 7 transmembrane domatrong>introng>s and transduce extracellular signals through heterotrimeric G protetrong>introng>s (summary by Bjarnadottir et al., 2004 [PubMed 15203201]).[supplied by OMIM, Nov 2010]
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olfactory trong>receptortrong>, family 8, subfamily B, member 6 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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taste trong>receptortrong>, type 2, member 63, pseudogene
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olfactory trong>receptortrong>, family 4, subfamily K, member 8 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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G protetrong>introng>-coupled trong>receptortrong> 65
Enables G protetrong>introng>-coupled trong>receptortrong> activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g activation of GTPase activity; positive regulation of stress fiber assembly; and response to acidic pH. Located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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G protetrong>introng>-coupled trong>receptortrong> 62
Enables arresttrong>introng> family protetrong>introng> btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> ligand-trong>introng>dependent adenylate cyclase-activattrong>introng>g G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway and positive regulation of calcium-mediated signaltrong>introng>g. Located trong>introng> endosome and plasma membrane. Part of trong>receptortrong> complex. [provided by Alliance of Genome Resources, Mar 2025]
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G protetrong>introng>-coupled trong>receptortrong> 63
Predicted to enable G protetrong>introng>-coupled trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway. Located trong>introng> cytosol; nucleoplasm; and plasma membrane. Part of trong>receptortrong> complex. [provided by Alliance of Genome Resources, Mar 2025]
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G protetrong>introng>-coupled trong>receptortrong> 61
This gene belongs to the G-protetrong>introng> coupled trong>receptortrong> 1 family. G protetrong>introng>-coupled trong>receptortrong>s contatrong>introng> 7 transmembrane domatrong>introng>s and transduce extracellular signals through heterotrimeric G protetrong>introng>s. The protetrong>introng> encoded by this gene is most closely related to biogenic amtrong>introng>e trong>receptortrong>s. [provided by RefSeq, Jul 2008]
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G protetrong>introng>-coupled trong>receptortrong> 68
The protetrong>introng> encoded by this gene is a G protetrong>introng>-coupled trong>receptortrong> for sphtrong>introng>gosylphosphorylcholtrong>introng>e. The encoded protetrong>introng> is a proton-senstrong>introng>g trong>receptortrong>, trong>introng>active at pH 7.8 but active at pH 6.8. Mutations trong>introng> this gene are a cause of amelogenesis imperfecta. [provided by RefSeq, Feb 2017]
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thyroid hormone trong>receptortrong> trong>introng>teractor 13 pseudogene
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olfactory trong>receptortrong>, family 14, subfamily J, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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zona pellucida glycoprotetrong>introng> 3 (sperm trong>receptortrong>) pseudogene
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nuclear trong>receptortrong> subfamily 5, group A, member 2
The protetrong>introng> encoded by this gene is a DNA-btrong>introng>dtrong>introng>g ztrong>introng>c ftrong>introng>ger transcription factor and is a member of the fushi tarazu factor-1 subfamily of orphan nuclear trong>receptortrong>s. The encoded protetrong>introng> is trong>introng>volved trong>introng> the expression of genes for hepatitis B virus and cholesterol biosynthesis, and may be an important regulator of embryonic development. [provided by RefSeq, Jun 2016]
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nuclear trong>receptortrong> subfamily 5, group A, member 1
The protetrong>introng> encoded by this gene is a transcriptional activator trong>introng>volved trong>introng> sex determtrong>introng>ation. The encoded protetrong>introng> btrong>introng>ds DNA as a monomer. Defects trong>introng> this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical trong>introng>sufficiency without ovarian defect. [provided by RefSeq, Jul 2008]
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coxsackie virus and adenovirus trong>receptortrong> pseudogene 3
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olfactory trong>receptortrong>, family 5, subfamily BD, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 115 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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transient trong>receptortrong> potential cation channel, subfamily C, member 6 pseudogene
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nuclear trong>receptortrong> subfamily 6, group A, member 1
This gene encodes an orphan nuclear trong>receptortrong> which is a member of the nuclear hormone trong>receptortrong> family. Its expression pattern suggests that it may be trong>introng>volved trong>introng> neurogenesis and germ cell development. The protetrong>introng> can homodimerize and btrong>introng>d DNA, but trong>introng> vivo targets have not been identified. Alternate splictrong>introng>g results trong>introng> multiple transcript variants.[provided by RefSeq, Jun 2013]
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olfactory trong>receptortrong>, family 2, subfamily A, member 3 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily B, member 8 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 148 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 52, subfamily B, member 3 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 99 pseudogene
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olfactory trong>receptortrong>, family 1, subfamily J, member 4
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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sertrong>introng>e/threontrong>introng>e ktrong>introng>ase trong>receptortrong> associated protetrong>introng>
Enables RNA btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> matrong>introng>tenance of gastrotrong>introng>testtrong>introng>al epithelium and spliceosomal snRNP assembly. Acts upstream of with a positive effect on negative regulation of transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> signaltrong>introng>g pathway. Located trong>introng> cytosol. Part of SMN complex. Implicated trong>introng> adenocarctrong>introng>oma; colorectal carctrong>introng>oma; large cell carctrong>introng>oma; lung carctrong>introng>oma; and squamous cell neoplasm. [provided by Alliance of Genome Resources, Mar 2025]
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erythropoiettrong>introng> trong>receptortrong>
This gene encodes the erythropoiettrong>introng> trong>receptortrong> which is a member of the cytoktrong>introng>e trong>receptortrong> family. Upon erythropoiettrong>introng> btrong>introng>dtrong>introng>g, this trong>receptortrong> activates Jak2 tyrostrong>introng>e ktrong>introng>ase which activates different trong>introng>tracellular pathways trong>introng>cludtrong>introng>g: Ras/MAP ktrong>introng>ase, phosphatidyltrong>introng>ositol 3-ktrong>introng>ase and STAT transcription factors. The stimulated erythropoiettrong>introng> trong>receptortrong> appears to have a role trong>introng> erythroid cell survival. Defects trong>introng> the erythropoiettrong>introng> trong>receptortrong> may produce erythroleukemia and familial erythrocytosis. Dysregulation of this gene may affect the growth of certatrong>introng> tumors. Alternate splictrong>introng>g results trong>introng> multiple transcript variants.[provided by RefSeq, May 2010]
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olfactory trong>receptortrong>, family 2, subfamily M, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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Fc trong>receptortrong>-like 1
This gene encodes a member of the immunoglobultrong>introng> trong>receptortrong> superfamily and is one of several Fc trong>receptortrong>-like glycoprotetrong>introng>s clustered on the long arm of chromosome 1. The encoded protetrong>introng> contatrong>introng>s three extracellular C2-like immunoglobultrong>introng> domatrong>introng>s, a transmembrane domatrong>introng> and a cytoplasmic domatrong>introng> with two immunotrong>receptortrong>-tyrostrong>introng>e activation motifs. This protetrong>introng> may play a role trong>introng> the regulation of cancer cell growth. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Apr 2009]
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Fc trong>receptortrong>-like 2
This gene encodes a member of the immunoglobultrong>introng> trong>receptortrong> superfamily and is one of several Fc trong>receptortrong>-like glycoprotetrong>introng>s clustered on the long arm of chromosome 1. The encoded protetrong>introng> has four extracellular C2-type immunoglobultrong>introng> domatrong>introng>s, a transmembrane domatrong>introng> and a cytoplasmic domatrong>introng> that contatrong>introng>s one immunotrong>receptortrong>-tyrostrong>introng>e activation motif and two immunotrong>receptortrong>-tyrostrong>introng>e trong>introng>hibitory motifs. This protetrong>introng> may be a prognostic marker for chronic lymphocytic leukemia. Alternatively spliced transcript variants have been described, but their biological validity has not been determtrong>introng>ed. [provided by RefSeq, Apr 2009]
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Fc trong>receptortrong>-like 3
This gene encodes a member of the immunoglobultrong>introng> trong>receptortrong> superfamily and is one of several Fc trong>receptortrong>-like glycoprotetrong>introng>s clustered on the long arm of chromosome 1. The encoded protetrong>introng> contatrong>introng>s immunotrong>receptortrong>-tyrostrong>introng>e activation motifs and immunotrong>receptortrong>-tyrostrong>introng>e trong>introng>hibitory motifs trong>introng> its cytoplasmic domatrong>introng> and may play a role trong>introng> regulation of the immune system. Mutations trong>introng> this gene have been associated with rheumatoid arthritis, autoimmune thyroid disease, and systemic lupus erythematosus. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Feb 2016]
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Fc trong>receptortrong>-like 4
This gene encodes a member of the immunoglobultrong>introng> trong>receptortrong> superfamily and is one of several Fc trong>receptortrong>-like glycoprotetrong>introng>s clustered on the long arm of chromosome 1. The encoded protetrong>introng> has four extracellular C2-type immunoglobultrong>introng> domatrong>introng>s, a transmembrane domatrong>introng> and a cytoplasmic domatrong>introng> that contatrong>introng>s three immune-trong>receptortrong> tyrostrong>introng>e-based trong>introng>hibitory motifs. This protetrong>introng> may play a role trong>introng> the function of memory B-cells trong>introng> the epithelia. Aberrations trong>introng> the chromosomal region encodtrong>introng>g this gene are associated with non-Hodgktrong>introng> lymphoma and multiple myeloma. [provided by RefSeq, Apr 2009]
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Fc trong>receptortrong>-like 6
Enables MHC class II protetrong>introng> btrong>introng>dtrong>introng>g activity and protetrong>introng> phosphatase btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway and immune response. Located trong>introng> external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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Fc trong>receptortrong>-like A
This gene encodes a protetrong>introng> similar to trong>receptortrong>s for the Fc fragment of gamma immunoglobultrong>introng> (IgG). These trong>receptortrong>s, referred to as FCGRs, mediate the destruction of IgG-coated antigens and of cells trong>introng>duced by antibodies. This encoded protetrong>introng> is selectively expressed trong>introng> B cells, and may be trong>introng>volved trong>introng> their development. This protetrong>introng> may also be trong>introng>volved trong>introng> the development of lymphomas. Multiple alternatively spliced transcript variants that encode different protetrong>introng> isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
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Fc trong>receptortrong>-like B
FCRL2 belongs to the Fc trong>receptortrong> family. Fc trong>receptortrong>s are trong>introng>volved trong>introng> phagocytosis, antibody-dependent cell cytotoxicity, immediate hypersensitivity, and transcytosis of immunoglobultrong>introng>s via their ability to btrong>introng>d immunoglobultrong>introng> (Ig) constant regions (Chikaev et al., 2005 [PubMed 15676285]).[supplied by OMIM, Mar 2008]
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5-hydroxytryptamtrong>introng>e (serotontrong>introng>) trong>receptortrong> 1D, G protetrong>introng>-coupled
Enables Gi/o-coupled serotontrong>introng> trong>receptortrong> activity and serotontrong>introng> trong>receptortrong> activity. trong>Introng>volved trong>introng> adenylate cyclase-trong>introng>hibittrong>introng>g serotontrong>introng> trong>receptortrong> signaltrong>introng>g pathway and trong>introng>testtrong>introng>e smooth muscle contraction. Located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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5-hydroxytryptamtrong>introng>e (serotontrong>introng>) trong>receptortrong> 1B, G protetrong>introng>-coupled
The protetrong>introng> encoded by this trong>introng>tronless gene is a G-protetrong>introng> coupled trong>receptortrong> for serotontrong>introng> (5-hydroxytryptamtrong>introng>e). Ligand btrong>introng>dtrong>introng>g activates second messengers that trong>introng>hibit the activity of adenylate cyclase and manage the release of serotontrong>introng>, dopamtrong>introng>e, and acetylcholtrong>introng>e trong>introng> the bratrong>introng>. The encoded protetrong>introng> may be trong>introng>volved trong>introng> several neuropsychiatric disorders and therefore is often a target of antidepressant and other psychotherapeutic drugs. [provided by RefSeq, Nov 2015]
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advanced glycosylation end product-specific trong>receptortrong>
The advanced glycosylation end product (AGE) trong>receptortrong> encoded by this gene is a member of the immunoglobultrong>introng> superfamily of cell surface trong>receptortrong>s. It is a multiligand trong>receptortrong>, and besides AGE, trong>introng>teracts with other molecules implicated trong>introng> homeostasis, development, and trong>introng>flammation, and certatrong>introng> diseases, such as diabetes and Alzheimer's disease. Many alternatively spliced transcript variants encodtrong>introng>g different isoforms, as well as non-protetrong>introng>-codtrong>introng>g variants, have been described for this gene (PMID:18089847). [provided by RefSeq, May 2011]
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olfactory trong>receptortrong>, family 5, subfamily H, member 4 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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GDNF family trong>receptortrong> alpha like
Enables glial cell-derived neurotrophic factor trong>receptortrong> activity and trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> GDF15-GFRAL signaltrong>introng>g pathway; positive regulation of MAPK cascade; and positive regulation of phosphatidyltrong>introng>ositol 3-ktrong>introng>ase/protetrong>introng> ktrong>introng>ase B signal transduction. Located trong>introng> several cellular components, trong>introng>cludtrong>introng>g acttrong>introng> cytoskeleton; focal adhesion; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]
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triggertrong>introng>g trong>receptortrong> expressed on myeloid cells-like 3, pseudogene
TREML3 is located trong>introng> a gene cluster on chromosome 6 with the strong>introng>gle Ig variable (IgV) domatrong>introng> activattrong>introng>g trong>receptortrong>s TREM1 (MIM 605085) and TREM2 (MIM 605086), but it has disttrong>introng>ct structural and functional properties (Allcock et al., 2003 [PubMed 12645956]).[supplied by OMIM, Mar 2008]
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glutamate trong>receptortrong>, ionotropic, AMPA 4
Glutamate trong>receptortrong>s are the predomtrong>introng>ant excitatory neurotransmitter trong>receptortrong>s trong>introng> the mammalian bratrong>introng> and are activated trong>introng> a variety of normal neurophysiologic processes. These trong>receptortrong>s are heteromeric protetrong>introng> complexes composed of multiple subunits, arranged to form ligand-gated ion channels. The classification of glutamate trong>receptortrong>s is based on their activation by different pharmacologic agonists. The subunit encoded by this gene belongs to a family of AMPA (alpha-amtrong>introng>o-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive glutamate trong>receptortrong>s, and is subject to RNA edittrong>introng>g (AGA->GGA; R->G). Alternative splictrong>introng>g of this gene results trong>introng> transcript variants encodtrong>introng>g different isoforms, which may vary trong>introng> their signal transduction properties. Some haplotypes of this gene show a positive association with schizophrenia. [provided by RefSeq, Jul 2008]
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transient trong>receptortrong> potential cation channel, subfamily A, member 1 pseudogene
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tumor necrosis factor trong>receptortrong> superfamily, member 12A
trong>Introng>volved trong>introng> positive regulation of extrtrong>introng>sic apoptotic signaltrong>introng>g pathway and regulation of wound healtrong>introng>g. Predicted to be located trong>introng> cell surface and ruffle. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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tumor necrosis factor trong>receptortrong> superfamily, member 10d, decoy with truncated death domatrong>introng> pseudogene
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olfactory trong>receptortrong>, family 7, subfamily E, member 7 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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trong>introng>tegrtrong>introng>, alpha X (complement component 3 trong>receptortrong> 4 subunit) pseudogene
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leukocyte immunoglobultrong>introng>-like trong>receptortrong> subfamily B member 3
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olfactory trong>receptortrong> pseudogene
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olfactory trong>receptortrong>, family 7, subfamily E, member 22 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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adhesion G protetrong>introng>-coupled trong>receptortrong> L3 antisense RNA 1
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neurotrophtrong>introng> trong>receptortrong> associated death domatrong>introng>, pseudogene
The neurotrophtrong>introng> trong>receptortrong> alike death domatrong>introng> protetrong>introng>s belong to the death domatrong>introng> superfamily and are trong>introng>volved trong>introng> mediattrong>introng>g apoptosis. This gene has been trong>introng>activated by mutation and is nonfunctional trong>introng> humans. [provided by RefSeq, Oct 2008]
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EPH trong>receptortrong> A8
This gene encodes a member of the ephrtrong>introng> trong>receptortrong> subfamily of the protetrong>introng>-tyrostrong>introng>e ktrong>introng>ase family. EPH and EPH-related trong>receptortrong>s have been implicated trong>introng> mediattrong>introng>g developmental events, particularly trong>introng> the nervous system. trong>Receptortrong>s trong>introng> the EPH subfamily typically have a strong>introng>gle ktrong>introng>ase domatrong>introng> and an extracellular region contatrong>introng>trong>introng>g a Cys-rich domatrong>introng> and 2 fibronecttrong>introng> type III repeats. The ephrtrong>introng> trong>receptortrong>s are divided trong>introng>to 2 groups based on the similarity of their extracellular domatrong>introng> sequences and their afftrong>introng>ities for btrong>introng>dtrong>introng>g ephrtrong>introng>-A and ephrtrong>introng>-B ligands. The protetrong>introng> encoded by this gene functions as a trong>receptortrong> for ephrtrong>introng> A2, A3 and A5 and plays a role trong>introng> short-range contact-mediated axonal guidance durtrong>introng>g development of the mammalian nervous system. [provided by RefSeq, Jul 2008]
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EPH trong>receptortrong> A7
This gene belongs to the ephrtrong>introng> trong>receptortrong> subfamily of the protetrong>introng>-tyrostrong>introng>e ktrong>introng>ase family. EPH and EPH-related trong>receptortrong>s have been implicated trong>introng> mediattrong>introng>g developmental events, particularly trong>introng> the nervous system. trong>Receptortrong>s trong>introng> the EPH subfamily typically have a strong>introng>gle ktrong>introng>ase domatrong>introng> and an extracellular region contatrong>introng>trong>introng>g a Cys-rich domatrong>introng> and 2 fibronecttrong>introng> type III repeats. The ephrtrong>introng> trong>receptortrong>s are divided trong>introng>to 2 groups based on the similarity of their extracellular domatrong>introng> sequences and their afftrong>introng>ities for btrong>introng>dtrong>introng>g ephrtrong>introng>-A and ephrtrong>introng>-B ligands. trong>Introng>creased expression of this gene is associated with multiple forms of carctrong>introng>oma. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Dec 2013]
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EPH trong>receptortrong> A6
Predicted to enable transmembrane-ephrtrong>introng> trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> axon guidance and ephrtrong>introng> trong>receptortrong> signaltrong>introng>g pathway. Located trong>introng> nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]
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EPH trong>receptortrong> A5
This gene belongs to the ephrtrong>introng> trong>receptortrong> subfamily of the protetrong>introng>-tyrostrong>introng>e ktrong>introng>ase family. EPH and EPH-related trong>receptortrong>s have been implicated trong>introng> mediattrong>introng>g developmental events, particularly trong>introng> the nervous system. trong>Receptortrong>s trong>introng> the EPH subfamily typically have a strong>introng>gle ktrong>introng>ase domatrong>introng> and an extracellular region contatrong>introng>trong>introng>g a Cys-rich domatrong>introng> and 2 fibronecttrong>introng> type III repeats. The ephrtrong>introng> trong>receptortrong>s are divided trong>introng>to 2 groups based on the similarity of their extracellular domatrong>introng> sequences and their afftrong>introng>ities for btrong>introng>dtrong>introng>g ephrtrong>introng>-A and ephrtrong>introng>-B ligands. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been described. [provided by RefSeq, Aug 2013]
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EPH trong>receptortrong> A4
This gene belongs to the ephrtrong>introng> trong>receptortrong> subfamily of the protetrong>introng>-tyrostrong>introng>e ktrong>introng>ase family. EPH and EPH-related trong>receptortrong>s have been implicated trong>introng> mediattrong>introng>g developmental events, particularly trong>introng> the nervous system. trong>Receptortrong>s trong>introng> the EPH subfamily typically have a strong>introng>gle ktrong>introng>ase domatrong>introng> and an extracellular region contatrong>introng>trong>introng>g a Cys-rich domatrong>introng> and 2 fibronecttrong>introng> type III repeats. The ephrtrong>introng> trong>receptortrong>s are divided trong>introng>to 2 groups based on the similarity of their extracellular domatrong>introng> sequences and their afftrong>introng>ities for btrong>introng>dtrong>introng>g ephrtrong>introng>-A and ephrtrong>introng>-B ligands. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]
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EPH trong>receptortrong> A3
This gene belongs to the ephrtrong>introng> trong>receptortrong> subfamily of the protetrong>introng>-tyrostrong>introng>e ktrong>introng>ase family. EPH and EPH-related trong>receptortrong>s have been implicated trong>introng> mediattrong>introng>g developmental events, particularly trong>introng> the nervous system. trong>Receptortrong>s trong>introng> the EPH subfamily typically have a strong>introng>gle ktrong>introng>ase domatrong>introng> and an extracellular region contatrong>introng>trong>introng>g a Cys-rich domatrong>introng> and 2 fibronecttrong>introng> type III repeats. The ephrtrong>introng> trong>receptortrong>s are divided trong>introng>to 2 groups based on the similarity of their extracellular domatrong>introng> sequences and their afftrong>introng>ities for btrong>introng>dtrong>introng>g ephrtrong>introng>-A and ephrtrong>introng>-B ligands. This gene encodes a protetrong>introng> that btrong>introng>ds ephrtrong>introng>-A ligands. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]
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EPH trong>receptortrong> A2
This gene belongs to the ephrtrong>introng> trong>receptortrong> subfamily of the protetrong>introng>-tyrostrong>introng>e ktrong>introng>ase family. EPH and EPH-related trong>receptortrong>s have been implicated trong>introng> mediattrong>introng>g developmental events, particularly trong>introng> the nervous system. trong>Receptortrong>s trong>introng> the EPH subfamily typically have a strong>introng>gle ktrong>introng>ase domatrong>introng> and an extracellular region contatrong>introng>trong>introng>g a Cys-rich domatrong>introng> and 2 fibronecttrong>introng> type III repeats. The ephrtrong>introng> trong>receptortrong>s are divided trong>introng>to 2 groups based on the similarity of their extracellular domatrong>introng> sequences and their afftrong>introng>ities for btrong>introng>dtrong>introng>g ephrtrong>introng>-A and ephrtrong>introng>-B ligands. This gene encodes a protetrong>introng> that btrong>introng>ds ephrtrong>introng>-A ligands. Mutations trong>introng> this gene are the cause of certatrong>introng> genetically-related cataract disorders.[provided by RefSeq, May 2010]
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EPH trong>receptortrong> A1
This gene belongs to the ephrtrong>introng> trong>receptortrong> subfamily of the protetrong>introng>-tyrostrong>introng>e ktrong>introng>ase family. EPH and EPH-related trong>receptortrong>s have been implicated trong>introng> mediattrong>introng>g developmental events, particularly trong>introng> the nervous system. trong>Receptortrong>s trong>introng> the EPH subfamily typically have a strong>introng>gle ktrong>introng>ase domatrong>introng> and an extracellular region contatrong>introng>trong>introng>g a Cys-rich domatrong>introng> and 2 fibronecttrong>introng> type III repeats. The ephrtrong>introng> trong>receptortrong>s are divided trong>introng>to 2 groups based on the similarity of their extracellular domatrong>introng> sequences and their afftrong>introng>ities for btrong>introng>dtrong>introng>g ephrtrong>introng>-A and ephrtrong>introng>-B ligands. This gene is expressed trong>introng> some human cancer cell ltrong>introng>es and has been implicated trong>introng> carctrong>introng>ogenesis. [provided by RefSeq, Jul 2008]
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nuclear trong>receptortrong> corepressor 1 pseudogene 2
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CD200 trong>receptortrong> 1
This gene encodes a trong>receptortrong> for the OX-2 membrane glycoprotetrong>introng>. Both the trong>receptortrong> and substrate are cell surface glycoprotetrong>introng>s contatrong>introng>trong>introng>g two immunoglobultrong>introng>-like domatrong>introng>s. This trong>receptortrong> is restricted to the surfaces of myeloid ltrong>introng>eage cells and the trong>receptortrong>-substrate trong>introng>teraction may function as a myeloid downregulatory signal. Mouse studies of a related gene suggest that this trong>introng>teraction may control myeloid function trong>introng> a tissue-specific manner. Alternative splictrong>introng>g of this gene results trong>introng> multiple transcript variants. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 29 pseudogene
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poliovirus trong>receptortrong>-related 1 (herpesvirus entry mediator C)
This gene encodes an adhesion protetrong>introng> that plays a role trong>introng> the organization of adherens junctions and tight junctions trong>introng> epithelial and endothelial cells. The protetrong>introng> is a calcium(2+)-trong>introng>dependent cell-cell adhesion molecule that belongs to the immunoglobultrong>introng> superfamily and has 3 extracellular immunoglobultrong>introng>-like loops, a strong>introng>gle transmembrane domatrong>introng> (trong>introng> some isoforms), and a cytoplasmic region. This protetrong>introng> acts as a trong>receptortrong> for glycoprotetrong>introng> D (gD) of herpes simplex viruses 1 and 2 (HSV-1, HSV-2), and pseudorabies virus (PRV) and mediates viral entry trong>introng>to epithelial and neuronal cells. Mutations trong>introng> this gene cause cleft lip and palate/ectodermal dysplasia 1 syndrome (CLPED1) as well as non-syndromic cleft lip with or without cleft palate (CL/P). Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g protetrong>introng>s with disttrong>introng>ct C-termtrong>introng>i. [provided by RefSeq, Oct 2009]
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poliovirus trong>receptortrong>-related 3
This gene encodes a member of the necttrong>introng> family of protetrong>introng>s, which function as adhesion molecules at adherens junctions. This family member trong>introng>teracts with other necttrong>introng>-like protetrong>introng>s and with afadtrong>introng>, a filamentous acttrong>introng>-btrong>introng>dtrong>introng>g protetrong>introng> trong>introng>volved trong>introng> the regulation of directional motility, cell proliferation and survival. This gene plays a role trong>introng> ocular development trong>introng>volvtrong>introng>g the ciliary body. Mutations trong>introng> this gene are believed to result trong>introng> congenital ocular defects. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Aug 2011]
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melanocorttrong>introng> 3 trong>receptortrong>
This gene encodes a G-protetrong>introng>-coupled trong>receptortrong> for melanocyte-stimulattrong>introng>g hormone and adrenocorticotropic hormone that is expressed trong>introng> tissues other than the adrenal cortex and melanocytes. This gene maps to the same region as the locus for benign neonatal epilepsy. Mice deficient for this gene have trong>introng>creased fat mass despite decreased food trong>introng>take, suggesttrong>introng>g a role for this gene product trong>introng> the regulation of energy homeostasis. Mutations trong>introng> this gene are associated with a susceptibility to obesity trong>introng> humans. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily AQ, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily A, member 49 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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trong>introng>terleuktrong>introng> 9 trong>receptortrong>
The protetrong>introng> encoded by this gene is a cytoktrong>introng>e trong>receptortrong> that specifically mediates the biological effects of trong>introng>terleuktrong>introng> 9 (IL9). The functional IL9 trong>receptortrong> complex requires this protetrong>introng> as well as the trong>introng>terleuktrong>introng> 2 trong>receptortrong>, gamma (IL2RG), a common gamma subunit shared by the trong>receptortrong>s of many different cytoktrong>introng>es. The ligand btrong>introng>dtrong>introng>g of this trong>receptortrong> leads to the activation of various JAK ktrong>introng>ases and STAT protetrong>introng>s, which connect to different biologic responses. This gene is located at the pseudoautosomal regions of X and Y chromosomes. Genetic studies suggested an association of this gene with the development of asthma. Multiple pseudogenes on chromosome 9, 10, 16, and 18 have been described. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
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trace amtrong>introng>e associated trong>receptortrong> 5
Enables trimethylamtrong>introng>e trong>receptortrong> activity. trong>Introng>volved trong>introng> adenylate cyclase-activattrong>introng>g G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway. Is active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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trace amtrong>introng>e associated trong>receptortrong> 6
This gene encodes a seven-transmembrane G-protetrong>introng>-coupled trong>receptortrong> that likely functions as a trong>receptortrong> for endogenous trace amtrong>introng>es. Mutations trong>introng> this gene may be associated with schizophrenia.[provided by RefSeq, Feb 2010]
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trace amtrong>introng>e associated trong>receptortrong> 1
The protetrong>introng> encoded by this gene is a G-protetrong>introng> coupled trong>receptortrong> activated by trace amtrong>introng>es. The encoded protetrong>introng> responds little or not at all to dopamtrong>introng>e, serotontrong>introng>, eptrong>introng>ephrtrong>introng>e, or histamtrong>introng>e, but responds well to trong>betatrong>-phenylethylamtrong>introng>e, p-tyramtrong>introng>e, octopamtrong>introng>e, and tryptamtrong>introng>e. While primarily functiontrong>introng>g trong>introng> neurologic systems, there is evidence that this gene is trong>introng>volved trong>introng> blood cell and immunologic functions as well. This gene is thought to be trong>introng>tronless. [provided by RefSeq, Nov 2015]
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trace amtrong>introng>e associated trong>receptortrong> 3 (gene/pseudogene)
Predicted to enable trace-amtrong>introng>e trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway and sensory perception of chemical stimulus. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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trace amtrong>introng>e associated trong>receptortrong> 2
Predicted to enable trace-amtrong>introng>e trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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trace amtrong>introng>e associated trong>receptortrong> 9 (gene/pseudogene)
TAAR9 is a member of a large family of rhodopstrong>introng> G protetrong>introng>-coupled trong>receptortrong>s (GPCRs, or GPRs). GPCRs contatrong>introng> 7 transmembrane domatrong>introng>s and transduce extracellular signals through heterotrimeric G protetrong>introng>s.[supplied by OMIM, Jul 2005]
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trace amtrong>introng>e associated trong>receptortrong> 8
This gene is part of the trace amtrong>introng>e trong>receptortrong> cluster on chromosome 6 and encodes an orphan G-protetrong>introng> coupled trong>receptortrong>. Upregulated expression of this gene trong>introng> astroglial cells upon exposure to lipopolysaccharides suggests a function for the encoded protetrong>introng> trong>introng> the bratrong>introng>. [provided by RefSeq, Jul 2016]
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cytoktrong>introng>e trong>receptortrong> CRL2
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olfactory trong>receptortrong>, family 4, subfamily Q, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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cholecystoktrong>introng>trong>introng> B trong>receptortrong>
This gene encodes a G-protetrong>introng> coupled trong>receptortrong> for gastrtrong>introng> and cholecystoktrong>introng>trong>introng> (CCK), regulatory peptides of the bratrong>introng> and gastrotrong>introng>testtrong>introng>al tract. This protetrong>introng> is a type B gastrtrong>introng> trong>receptortrong>, which has a high afftrong>introng>ity for both sulfated and nonsulfated CCK analogs and is found prtrong>introng>cipally trong>introng> the central nervous system and the gastrotrong>introng>testtrong>introng>al tract. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. A misspliced transcript variant trong>introng>cludtrong>introng>g an trong>introng>tron has been observed trong>introng> cells from colorectal and pancreatic tumors. [provided by RefSeq, Dec 2015]
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low density lipoprotetrong>introng> trong>receptortrong>-related protetrong>introng> 2
The protetrong>introng> encoded by this gene, low density lipoprotetrong>introng>-related protetrong>introng> 2 (LRP2) or megaltrong>introng>, is a multi-ligand endocytic trong>receptortrong> that is expressed trong>introng> many different tissues but primarily trong>introng> absorptive epithilial tissues such as the kidney. This glycoprotetrong>introng> has a large amtrong>introng>o-termtrong>introng>al extracellular domatrong>introng>, a strong>introng>gle transmembrane domatrong>introng>, and a short carboxy-termtrong>introng>al cytoplasmic tail. The extracellular ligand-btrong>introng>dtrong>introng>g-domatrong>introng>s btrong>introng>d diverse macromolecules trong>introng>cludtrong>introng>g albumtrong>introng>, apolipoprotetrong>introng>s B and E, and lipoprotetrong>introng> lipase. The LRP2 protetrong>introng> is critical for the reuptake of numerous ligands, trong>introng>cludtrong>introng>g lipoprotetrong>introng>s, sterols, vitamtrong>introng>-btrong>introng>dtrong>introng>g protetrong>introng>s, and hormones. This protetrong>introng> also has a role trong>introng> cell-signaltrong>introng>g; extracellular ligands trong>introng>clude parathyroid horomones and the morphogen sonic hedgehog while cytosolic ligands trong>introng>clude MAP ktrong>introng>ase scaffold protetrong>introng>s and JNK trong>introng>teracttrong>introng>g protetrong>introng>s. Recycltrong>introng>g of this membrane trong>receptortrong> is regulated by phosphorylation of its cytoplasmic domatrong>introng>. Mutations trong>introng> this gene cause Donnai-Barrow syndrome (DBS) and facio-oculoacoustico-renal syndrome (FOAR).[provided by RefSeq, Aug 2009]
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low density lipoprotetrong>introng> trong>receptortrong>-related protetrong>introng> 3
trong>Introng>volved trong>introng> negative regulation of fat cell differentiation; positive regulation of osteoblast differentiation; and regulation of gene expression. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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low density lipoprotetrong>introng> trong>receptortrong>-related protetrong>introng> 1
This gene encodes a member of the low-density lipoprotetrong>introng> trong>receptortrong> family of protetrong>introng>s. The encoded preproprotetrong>introng> is proteolytically processed by furtrong>introng> to generate 515 kDa and 85 kDa subunits that form the mature trong>receptortrong> (PMID: 8546712). This trong>receptortrong> is trong>introng>volved trong>introng> several cellular processes, trong>introng>cludtrong>introng>g trong>introng>tracellular signaltrong>introng>g, lipid homeostasis, and clearance of apoptotic cells. trong>Introng> addition, the encoded protetrong>introng> is necessary for the alpha 2-macroglobultrong>introng>-mediated clearance of secreted amyloid precursor protetrong>introng> and trong>betatrong>-amyloid, the matrong>introng> component of amyloid plaques found trong>introng> Alzheimer patients. Expression of this gene decreases with age and has been found to be lower than controls trong>introng> bratrong>introng> tissue from Alzheimer's disease patients. [provided by RefSeq, Oct 2015]
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low density lipoprotetrong>introng> trong>receptortrong>-related protetrong>introng> 6
This gene encodes a member of the low density lipoprotetrong>introng> (LDL) trong>receptortrong> gene family. LDL trong>receptortrong>s are transmembrane cell surface protetrong>introng>s trong>introng>volved trong>introng> trong>receptortrong>-mediated endocytosis of lipoprotetrong>introng> and protetrong>introng> ligands. The protetrong>introng> encoded by this gene functions as a trong>receptortrong> or, with Frizzled, a co-trong>receptortrong> for Wnt and thereby transmits the canonical Wnt/trong>betatrong>-catentrong>introng> signaltrong>introng>g cascade. Through its trong>introng>teraction with the Wnt/trong>betatrong>-catentrong>introng> signaltrong>introng>g cascade this gene plays a role trong>introng> the regulation of cell differentiation, proliferation, and migration and the development of many cancer types. This protetrong>introng> undergoes gamma-secretase dependent RIP- (regulated trong>introng>tramembrane proteolysis) processtrong>introng>g but the precise locations of the cleavage sites have not been determtrong>introng>ed.[provided by RefSeq, Dec 2009]
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low density lipoprotetrong>introng> trong>receptortrong>-related protetrong>introng> 4
This gene encodes a member of the low-density lipoprotetrong>introng> trong>receptortrong>-related protetrong>introng> family. The encoded protetrong>introng> may be a regulator of Wnt signaltrong>introng>g. Mutations trong>introng> this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010]
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low density lipoprotetrong>introng> trong>receptortrong>-related protetrong>introng> 5
This gene encodes a transmembrane low-density lipoprotetrong>introng> trong>receptortrong> that btrong>introng>ds and trong>introng>ternalizes ligands trong>introng> the process of trong>receptortrong>-mediated endocytosis. This protetrong>introng> also acts as a co-trong>receptortrong> with Frizzled protetrong>introng> family members for transductrong>introng>g signals by Wnt protetrong>introng>s and was origtrong>introng>ally cloned on the basis of its association with type 1 diabetes mellitus trong>introng> humans. This protetrong>introng> plays a key role trong>introng> skeletal homeostasis and many bone density related diseases are caused by mutations trong>introng> this gene. Mutations trong>introng> this gene also cause familial exudative vitreorettrong>introng>opathy. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, May 2014]
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vomeronasal 1 trong>receptortrong> 71 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily A, member 50 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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anthrax toxtrong>introng> trong>receptortrong> 1
This gene encodes a type I transmembrane protetrong>introng> and is a tumor-specific endothelial marker that has been implicated trong>introng> colorectal cancer. The encoded protetrong>introng> has been shown to also be a docktrong>introng>g protetrong>introng> or trong>receptortrong> for Bacillus anthracis toxtrong>introng>, the causative agent of the disease, anthrax. The btrong>introng>dtrong>introng>g of the protective antigen (PA) component, of the tripartite anthrax toxtrong>introng>, to this trong>receptortrong> protetrong>introng> mediates delivery of toxtrong>introng> components to the cytosol of cells. Once trong>introng>side the cell, the other two components of anthrax toxtrong>introng>, edema factor (EF) and lethal factor (LF) disrupt normal cellular processes. Three alternatively spliced variants that encode different protetrong>introng> isoforms have been described. [provided by RefSeq, Oct 2008]
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anthrax toxtrong>introng> trong>receptortrong> 2
This gene encodes a trong>receptortrong> for anthrax toxtrong>introng>. The protetrong>introng> btrong>introng>ds to collagen IV and lamtrong>introng>trong>introng>, suggesttrong>introng>g that it may be trong>introng>volved trong>introng> extracellular matrix adhesion. Mutations trong>introng> this gene cause juvenile hyaltrong>introng>e fibromatosis and trong>introng>fantile systemic hyaltrong>introng>osis. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
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olfactory trong>receptortrong>, family 51, subfamily S, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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protetrong>introng> tyrostrong>introng>e phosphatase, non-trong>receptortrong> type 22 (lymphoid)
This gene encodes of member of the non-trong>receptortrong> class 4 subfamily of the protetrong>introng>-tyrostrong>introng>e phosphatase family. The encoded protetrong>introng> is a lymphoid-specific trong>introng>tracellular phosphatase that associates with the molecular adapter protetrong>introng> CBL and may be trong>introng>volved trong>introng> regulattrong>introng>g CBL function trong>introng> the T-cell trong>receptortrong> signaltrong>introng>g pathway. Mutations trong>introng> this gene may be associated with a range of autoimmune disorders trong>introng>cludtrong>introng>g Type 1 Diabetes, rheumatoid arthritis, systemic lupus erythematosus and Graves' disease. Alternatively spliced transcript variants encodtrong>introng>g disttrong>introng>ct isoforms have been described. [provided by RefSeq, Mar 2009]
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protetrong>introng> tyrostrong>introng>e phosphatase, non-trong>receptortrong> type 23
This gene encodes a member of the non-trong>receptortrong> type protetrong>introng>-tyrostrong>introng>e phosphatase family. The encoded protetrong>introng> may be trong>introng>volved trong>introng> the regulation of small nuclear ribonucleo protetrong>introng> assembly and pre-mRNA splictrong>introng>g by modifytrong>introng>g the survival motor neuron (SMN) complex. The encoded protetrong>introng> additionally plays a role trong>introng> ciliogenesis and is part of endosomal sorttrong>introng>g complex required for transport (ESCRT) pathways. This gene may serve a tumor suppressor function. [provided by RefSeq, Jul 2016]
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protetrong>introng> tyrostrong>introng>e phosphatase, non-trong>receptortrong> type 20
The product of this gene belongs to the family of classical tyrostrong>introng>e-specific protetrong>introng> tyrostrong>introng>e phosphatases. Many protetrong>introng> tyrostrong>introng>e phosphatases have been shown to regulate fundamental cellular processes. The encoded protetrong>introng> appears to be targeted to sites of acttrong>introng> polymerization. A pseudogene of this gene has been deftrong>introng>ed on chromosome 10. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Apr 2014]
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protetrong>introng> tyrostrong>introng>e phosphatase, non-trong>receptortrong> type 21
The protetrong>introng> encoded by this gene is a member of the protetrong>introng> tyrostrong>introng>e phosphatase (PTP) family. PTPs are known to be signaltrong>introng>g molecules that regulate a variety of cellular processes trong>introng>cludtrong>introng>g cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contatrong>introng>s an N-termtrong>introng>al domatrong>introng>, similar to cytoskeletal- associated protetrong>introng>s trong>introng>cludtrong>introng>g band 4.1, ezrtrong>introng>, merltrong>introng>, and radixtrong>introng>. This PTP was shown to specially trong>introng>teract with BMX/ETK, a member of Tec tyrostrong>introng>e ktrong>introng>ase family characterized by a multimodular structures trong>introng>cludtrong>introng>g PH, SH3, and SH2 domatrong>introng>s. The trong>introng>teraction of this PTP with BMX ktrong>introng>ase was found to trong>introng>crease the activation of STAT3, but not STAT2 ktrong>introng>ase. Studies of the similar gene trong>introng> mice suggested the possible roles of this PTP trong>introng> liver regeneration and spermatogenesis. [provided by RefSeq, Jul 2008]
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vomeronasal 2 trong>receptortrong> 13 pseudogene
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EPH trong>receptortrong> A10
Ephrtrong>introng> trong>receptortrong>s, the largest subfamily of trong>receptortrong> tyrostrong>introng>e ktrong>introng>ases (RTKs), and their ephrtrong>introng> ligands are important mediators of cell-cell communication regulattrong>introng>g cell attachment, shape, and mobility trong>introng> neuronal and epithelial cells (Aasheim et al., 2005 [PubMed 15777695]). See MIM 179610 for additional background on Eph trong>receptortrong>s and ephrtrong>introng>s.[supplied by OMIM, Mar 2008]
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anthrax toxtrong>introng> trong>receptortrong>-like
Predicted to enable transmembrane signaltrong>introng>g trong>receptortrong> activity. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> cell surface and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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urotenstrong>introng> 2 trong>receptortrong>
Predicted to enable urotenstrong>introng> II trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> neuropeptide signaltrong>introng>g pathway. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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macrophage scavenger trong>receptortrong> 1
This gene encodes the class A macrophage scavenger trong>receptortrong>s, which trong>introng>clude three different types (1, 2, 3) generated by alternative splictrong>introng>g of this gene. These trong>receptortrong>s or isoforms are macrophage-specific trimeric trong>introng>tegral membrane glycoprotetrong>introng>s and have been implicated trong>introng> many macrophage-associated physiological and pathological processes trong>introng>cludtrong>introng>g atherosclerosis, Alzheimer's disease, and host defense. The isoforms type 1 and type 2 are functional trong>receptortrong>s and are able to mediate the endocytosis of modified low density lipoprotetrong>introng>s (LDLs). The isoform type 3 does not trong>introng>ternalize modified LDL (acetyl-LDL) despite havtrong>introng>g the domatrong>introng> shown to mediate this function trong>introng> the types 1 and 2 isoforms. It has an altered trong>introng>tracellular processtrong>introng>g and is trapped withtrong>introng> the endoplasmic reticulum, maktrong>introng>g it unable to perform endocytosis. The isoform type 3 can trong>introng>hibit the function of isoforms type 1 and type 2 when co-expressed, trong>introng>dicattrong>introng>g a domtrong>introng>ant negative effect and suggesttrong>introng>g a mechanism for regulation of scavenger trong>receptortrong> activity trong>introng> macrophages. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily W, member 1 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily B, member 2 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily K, member 13
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily G, member 6 pseudogene
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choltrong>introng>ergic trong>receptortrong>, nicottrong>introng>ic, alpha 4 (neuronal)
This gene encodes a nicottrong>introng>ic acetylcholtrong>introng>e trong>receptortrong>, which belongs to a superfamily of ligand-gated ion channels that play a role trong>introng> fast signal transmission at synapses. These pentameric trong>receptortrong>s can btrong>introng>d acetylcholtrong>introng>e, which causes an extensive change trong>introng> conformation that leads to the opentrong>introng>g of an ion-conducttrong>introng>g channel across the plasma membrane. This protetrong>introng> is an trong>introng>tegral membrane trong>receptortrong> subunit that can trong>introng>teract with either nAChR trong>betatrong>-2 or nAChR trong>betatrong>-4 to form a functional trong>receptortrong>. Mutations trong>introng> this gene cause nocturnal frontal lobe epilepsy type 1. Polymorphisms trong>introng> this gene that provide protection agatrong>introng>st nicottrong>introng>e addiction have been described. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Feb 2012]
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choltrong>introng>ergic trong>receptortrong>, nicottrong>introng>ic, alpha 5 (neuronal)
The protetrong>introng> encoded by this gene is a nicottrong>introng>ic acetylcholtrong>introng>e trong>receptortrong> subunit and a member of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. These trong>receptortrong>s are thought to be heteropentamers composed of separate but similar subunits. Defects trong>introng> this gene have been ltrong>introng>ked to susceptibility to lung cancer type 2 (LNCR2).[provided by RefSeq, Jun 2010]
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choltrong>introng>ergic trong>receptortrong>, nicottrong>introng>ic, alpha 6 (neuronal)
This gene encodes an alpha subunit of neuronal nicottrong>introng>ic acetylcholtrong>introng>e trong>receptortrong>s. These trong>receptortrong>s consist of five subunits and function as ion channels trong>introng>volved trong>introng> neurotransmission. The encoded protetrong>introng> is a subunit of neuronal nicottrong>introng>ic acetylcholtrong>introng>e trong>receptortrong>s that mediate dopamtrong>introng>ergic neurotransmission and are activated by acetylcholtrong>introng>e and exogenous nicottrong>introng>e. Alternatively spliced transcript variants have been observed for this gene. Strong>introng>gle nucleotide polymorphisms trong>introng> this gene have been associated with both nicottrong>introng>e and alcohol dependence. [provided by RefSeq, Dec 2010]
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choltrong>introng>ergic trong>receptortrong>, nicottrong>introng>ic, alpha 7 (neuronal)
The nicottrong>introng>ic acetylcholtrong>introng>e trong>receptortrong>s (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are thought to be hetero-pentamers composed of homologous subunits. The proposed structure for each subunit is a conserved N-termtrong>introng>al extracellular domatrong>introng> followed by three conserved transmembrane domatrong>introng>s, a variable cytoplasmic loop, a fourth conserved transmembrane domatrong>introng>, and a short C-termtrong>introng>al extracellular region. The protetrong>introng> encoded by this gene forms a homo-oligomeric channel, displays marked permeability to calcium ions and is a major component of bratrong>introng> nicottrong>introng>ic trong>receptortrong>s that are blocked by, and highly sensitive to, alpha-bungarotoxtrong>introng>. Once this trong>receptortrong> btrong>introng>ds acetylcholtrong>introng>e, it undergoes an extensive change trong>introng> conformation that affects all subunits and leads to opentrong>introng>g of an ion-conducttrong>introng>g channel across the plasma membrane. This gene is located trong>introng> a region identified as a major susceptibility locus for juvenile myoclonic epilepsy and a chromosomal location trong>introng>volved trong>introng> the genetic transmission of schizophrenia. An evolutionarily recent partial duplication event trong>introng> this region results trong>introng> a hybrid contatrong>introng>trong>introng>g sequence from this gene and a novel FAM7A gene. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Feb 2012]
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choltrong>introng>ergic trong>receptortrong>, nicottrong>introng>ic, alpha 1 (muscle)
The muscle acetylcholtrong>introng>e trong>receptortrong> consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the trong>betatrong>, gamma, and delta subunits. This gene encodes an alpha subunit that plays a role trong>introng> acetlycholtrong>introng>e btrong>introng>dtrong>introng>g/channel gattrong>introng>g. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been identified. [provided by RefSeq, Nov 2012]
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choltrong>introng>ergic trong>receptortrong>, nicottrong>introng>ic, alpha 2 (neuronal)
Nicottrong>introng>ic acetylcholtrong>introng>e trong>receptortrong>s (nAChRs) are ligand-gated ion channels formed by a pentameric arrangement of alpha and trong>betatrong> subunits to create disttrong>introng>ct muscle and neuronal trong>receptortrong>s. Neuronal trong>receptortrong>s are found throughout the peripheral and central nervous system where they are trong>introng>volved trong>introng> fast synaptic transmission. This gene encodes an alpha subunit that is widely expressed trong>introng> the bratrong>introng>. The proposed structure for nAChR subunits is a conserved N-termtrong>introng>al extracellular domatrong>introng> followed by three conserved transmembrane domatrong>introng>s, a variable cytoplasmic loop, a fourth conserved transmembrane domatrong>introng>, and a short C-termtrong>introng>al extracellular region. Mutations trong>introng> this gene cause autosomal domtrong>introng>ant nocturnal frontal lobe epilepsy type 4. Strong>introng>gle nucleotide polymorphisms (SNPs) trong>introng> this gene have been associated with nicottrong>introng>e dependence. [provided by RefSeq, Nov 2009]
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choltrong>introng>ergic trong>receptortrong>, nicottrong>introng>ic, alpha 3 (neuronal)
This locus encodes a member of the nicottrong>introng>ic acetylcholtrong>introng>e trong>receptortrong> family of protetrong>introng>s. Members of this family of protetrong>introng>s form pentameric complexes comprised of both alpha and trong>betatrong> subunits. This locus encodes an alpha-type subunit, as it contatrong>introng>s characteristic adjacent cystetrong>introng>e residues. The encoded protetrong>introng> is a ligand-gated ion channel that likely plays a role trong>introng> neurotransmission. Polymorphisms trong>introng> this gene have been associated with an trong>introng>creased risk of smoktrong>introng>g trong>introng>itiation and an trong>introng>creased susceptibility to lung cancer. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]
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choltrong>introng>ergic trong>receptortrong>, nicottrong>introng>ic, alpha 9 (neuronal)
This gene is a member of the ligand-gated ionic channel family and nicottrong>introng>ic acetylcholtrong>introng>e trong>receptortrong> gene superfamily. It encodes a plasma membrane protetrong>introng> that forms homo- or hetero-oligomeric divalent cation channels. This protetrong>introng> is trong>introng>volved trong>introng> cochlea hair cell development and is also expressed trong>introng> the outer hair cells (OHCs) of the adult cochlea. [provided by RefSeq, Feb 2012]
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olfactory trong>receptortrong>, family 2, subfamily W, member 1 pseudogene
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follicle stimulattrong>introng>g hormone trong>receptortrong>
The protetrong>introng> encoded by this gene belongs to family 1 of G-protetrong>introng> coupled trong>receptortrong>s. It is the trong>receptortrong> for follicle stimulattrong>introng>g hormone and functions trong>introng> gonad development. Mutations trong>introng> this gene cause ovarian dysgenesis type 1, and also ovarian hyperstimulation syndrome. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Mar 2010]
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olfactory trong>receptortrong>, family 7, subfamily H, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 23 pseudogene
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immunoglobultrong>introng>-like domatrong>introng> contatrong>introng>trong>introng>g trong>receptortrong> 2
trong>Introng>volved trong>introng> negative regulation of T cell activation. Predicted to be located trong>introng> tight junction. Predicted to be active trong>introng> membrane. [provided by Alliance of Genome Resources, Mar 2025]
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immunoglobultrong>introng>-like domatrong>introng> contatrong>introng>trong>introng>g trong>receptortrong> 1
This gene encodes a protetrong>introng> that contatrong>introng>s an immunoglobultrong>introng>-like domatrong>introng>. The encoded protetrong>introng> may function as a multimeric trong>receptortrong> at the cell surface. The expression of this gene may be a diagnostic marker for cancer progression. Alternatively spliced transcript variants encodtrong>introng>g multiple protetrong>introng> isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
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trong>introng>terleuktrong>introng> 3 trong>receptortrong>, alpha (low afftrong>introng>ity)
The protetrong>introng> encoded by this gene is an trong>introng>terleuktrong>introng> 3 specific subunit of a heterodimeric cytoktrong>introng>e trong>receptortrong>. The trong>receptortrong> is comprised of a ligand specific alpha subunit and a signal transductrong>introng>g trong>betatrong> subunit shared by the trong>receptortrong>s for trong>introng>terleuktrong>introng> 3 (IL3), colony stimulattrong>introng>g factor 2 (CSF2/GM-CSF), and trong>introng>terleuktrong>introng> 5 (IL5). The btrong>introng>dtrong>introng>g of this protetrong>introng> to IL3 depends on the trong>betatrong> subunit. The trong>betatrong> subunit is activated by the ligand btrong>introng>dtrong>introng>g, and is required for the biological activities of IL3. This gene and the gene encodtrong>introng>g the colony stimulattrong>introng>g factor 2 trong>receptortrong> alpha trong>chatrong>introng>trong> (CSF2RA) form a cytoktrong>introng>e trong>receptortrong> gene cluster trong>introng> a X-Y pseudoautosomal region on chromosomes X or Y. Alternatively spliced transcript variants encodtrong>introng>g disttrong>introng>ct isoforms have been found. [provided by RefSeq, Jun 2012]
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olfactory trong>receptortrong>, family 7, subfamily E, member 140 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily AC, member 4 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily B, member 19 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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RELT tumor necrosis factor trong>receptortrong>
The protetrong>introng> encoded by this gene is a member of the TNF-trong>receptortrong> superfamily. This trong>receptortrong> is especially abundant trong>introng> hematologic tissues. It has been shown to activate the NF-kappaB pathway and selectively btrong>introng>d TNF trong>receptortrong>-associated factor 1 (TRAF1). This trong>receptortrong> is capable of stimulattrong>introng>g T-cell proliferation trong>introng> the presence of CD3 signaltrong>introng>g, which suggests its regulatory role trong>introng> immune response. Two alternatively spliced transcript variants of this gene encodtrong>introng>g the same protetrong>introng> have been reported. [provided by RefSeq, Jul 2008]
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parathyroid hormone 2 trong>receptortrong>
The protetrong>introng> encoded by this gene is a member of the G-protetrong>introng> coupled trong>receptortrong> 2 family. This protetrong>introng> is a trong>receptortrong> for parathyroid hormone (PTH). This trong>receptortrong> is more selective trong>introng> ligand recognition and has a more specific tissue distribution compared to parathyroid hormone trong>receptortrong> 1 (PTHR1). It is activated only by PTH and not by parathyroid hormone-like hormone (PTHLH) and is particularly abundant trong>introng> bratrong>introng> and pancreas. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jan 2013]
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vomeronasal 1 trong>receptortrong> 91 pseudogene
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coxsackie virus and adenovirus trong>receptortrong>
The protetrong>introng> encoded by this gene is a type I membrane trong>receptortrong> for group B coxsackieviruses and subgroup C adenoviruses. Several transcript variants encodtrong>introng>g different isoforms have been found for this gene. Pseudogenes of this gene are found on chromosomes 15, 18, and 21. [provided by RefSeq, May 2011]
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olfactory trong>receptortrong>, family 8, subfamily B, member 2 pseudogene
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olfactory trong>receptortrong>, family 8, subfamily A, member 1 pseudogene
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olfactory trong>receptortrong>, family 7, subfamily E, member 93 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 13, subfamily D, member 3 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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neuropeptide Y trong>receptortrong> Y1
This gene belongs to the G-protetrong>introng>-coupled trong>receptortrong> superfamily. The encoded transmembrane protetrong>introng> mediates the function of neuropeptide Y (NPY), a neurotransmitter, and peptide YY (PYY), a gastrotrong>introng>testtrong>introng>al hormone. The encoded trong>receptortrong> undergoes fast agonist-trong>introng>duced trong>introng>ternalization through clathrtrong>introng>-coated pits and is subsequently recycled back to the cell membrane. Activation of Y1 trong>receptortrong>s may result trong>introng> mobilization of trong>introng>tracellular calcium and trong>introng>hibition of adenylate cyclase activity. [provided by RefSeq, Aug 2013]
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olfactory trong>receptortrong>, family 4, subfamily F, member 15 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily G, member 11 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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dopamtrong>introng>e trong>receptortrong> D5 pseudogene 1
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dopamtrong>introng>e trong>receptortrong> D5 pseudogene 2
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collagen, type I, alpha, trong>receptortrong>
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chemoktrong>introng>e (C-C motif) trong>receptortrong>-like 1 pseudogene
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purtrong>introng>ergic trong>receptortrong> P2X, ligand gated ion channel, 1
The protetrong>introng> encoded by this gene belongs to the P2X family of G-protetrong>introng>-coupled trong>receptortrong>s. These protetrong>introng>s can form homo-and heterotimers and function as ATP-gated ion channels and mediate rapid and selective permeability to cations. This protetrong>introng> is primarily localized to smooth muscle where btrong>introng>ds ATP and mediates synaptic transmission between neurons and from neurons to smooth muscle and may betrong>introng>g responsible for sympathetic vasoconstriction trong>introng> small arteries, arterioles and vas deferens. Mouse studies suggest that this trong>receptortrong> is essential for normal male reproductive function. This protetrong>introng> may also be trong>introng>volved trong>introng> promottrong>introng>g apoptosis. [provided by RefSeq, Jun 2013]
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purtrong>introng>ergic trong>receptortrong> P2X, ligand gated ion channel, 3
This gene encodes a member of the P2X purtrong>introng>ergic trong>receptortrong> (purtrong>introng>oceptor) gene family which trong>introng>cludes seven members (P2RX1 - P2RX7). P2X purtrong>introng>oceptors are a family of cation-permeable, ligand-gated ion channels that open trong>introng> response to the btrong>introng>dtrong>introng>g of extracellular adenostrong>introng>e 5'-triphosphate (ATP). The encoded protetrong>introng> is a subunit of the trimeric P2X3 trong>receptortrong> ion channel which is expressed by sensory or autonomic neurons. A deficiency of the orthologous protetrong>introng> trong>introng> mice is associated with reduced patrong>introng>-related behavior and urtrong>introng>ary bladder hyporeflexia. [provided by RefSeq, Aug 2017]
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purtrong>introng>ergic trong>receptortrong> P2X, ligand gated ion channel, 2
The product of this gene belongs to the family of purtrong>introng>oceptors for ATP. This trong>receptortrong> functions as a ligand-gated ion channel. Btrong>introng>dtrong>introng>g to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle. Multiple transcript variants encodtrong>introng>g disttrong>introng>ct isoforms have been identified for this gene. [provided by RefSeq, Aug 2013]
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purtrong>introng>ergic trong>receptortrong> P2X, ligand gated ion channel, 5
The product of this gene belongs to the family of purtrong>introng>oceptors for ATP. This trong>receptortrong> functions as a ligand-gated ion channel. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. Read-through transcription also exists between this gene and the neighbortrong>introng>g downstream gene, TAX1BP3 (Tax1 btrong>introng>dtrong>introng>g protetrong>introng> 3). [provided by RefSeq, Mar 2011]
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purtrong>introng>ergic trong>receptortrong> P2X, ligand gated ion channel, 4
The product of this gene belongs to the family of purtrong>introng>oceptors for ATP. This trong>receptortrong> functions as a ligand-gated ion channel with high calcium permeability. The matrong>introng> pharmacological disttrong>introng>ction between the members of the purtrong>introng>oceptor family is the relative sensitivity to the antagonists suramtrong>introng> and PPADS. The product of this gene has the lowest sensitivity for these antagonists. Multiple alternatively spliced transcript variants, some protetrong>introng>-codtrong>introng>g and some not protetrong>introng>-codtrong>introng>g, have been found for this gene. [provided by RefSeq, Feb 2012]
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purtrong>introng>ergic trong>receptortrong> P2X, ligand gated ion channel, 6
The protetrong>introng> encoded by this gene belongs to the family of P2X trong>receptortrong>s, which are ATP-gated ion channels and mediate rapid and selective permeability to cations. This gene is predomtrong>introng>antly expressed trong>introng> skeletal muscle, and regulated by p53. The encoded protetrong>introng> is associated with VE-cadhertrong>introng> at the adherens junctions of human umbilical vetrong>introng> endothelial cells. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. A related pseudogene, which is also located on chromosome 22, has been identified. [provided by RefSeq, Apr 2009]
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adhesion G protetrong>introng>-coupled trong>receptortrong> F5 pseudogene 2
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adhesion G protetrong>introng>-coupled trong>receptortrong> F5 pseudogene 1
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frizzled class trong>receptortrong> 10
This gene is a member of the frizzled gene family. Members of this family encode 7-transmembrane domatrong>introng> protetrong>introng>s that are trong>receptortrong>s for the Wtrong>introng>gless type MMTV trong>introng>tegration site family of signaltrong>introng>g protetrong>introng>s. Most frizzled trong>receptortrong>s are coupled to the trong>betatrong>-catentrong>introng> canonical signaltrong>introng>g pathway. Ustrong>introng>g array analysis, expression of this trong>introng>tronless gene is significantly up-regulated trong>introng> two cases of primary colon cancer. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 79 pseudogene
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scavenger trong>receptortrong> class F, member 2
The protetrong>introng> encoded by this gene is similar to SCARF1/SREC-I, a scavenger trong>receptortrong> protetrong>introng> that mediates the btrong>introng>dtrong>introng>g and degradation of acetylated low density lipoprotetrong>introng> (Ac-LDL). This protetrong>introng> has only little activity of trong>introng>ternaliztrong>introng>g modified low density lipoprotetrong>introng>s (LDL), but it can trong>introng>teract with SCARF1 through its extracellular domatrong>introng>. The association of this protetrong>introng> with SCARF1 is suppressed by the presence of scavenger ligands. Alternatively spliced transcript variants encodtrong>introng>g disttrong>introng>ct isoforms have been reported. [provided by RefSeq, Jul 2008]
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scavenger trong>receptortrong> class F, member 1
The protetrong>introng> encoded by this gene is a scavenger trong>receptortrong> that is expressed trong>introng> endothelial cells. It regulates the uptake of chemically modified low density lipoprotetrong>introng>s, trong>introng>cludtrong>introng>g acetylated low density lipoprotetrong>introng> (Ac-LDL), and it may be trong>introng>volved trong>introng> atherogenesis. This gene is regulated by the transcription factors ZNF444/EZF-2 and SP1. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Apr 2013]
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transient trong>receptortrong> potential cation channel, subfamily C, member 4 associated protetrong>introng>
Enables phosphatase btrong>introng>dtrong>introng>g activity and ubiquittrong>introng>-like ligase-substrate adaptor activity. trong>Introng>volved trong>introng> protetrong>introng> ubiquittrong>introng>ation and ubiquittrong>introng>-dependent protetrong>introng> catabolic process via the C-end degron rule pathway. Part of Cul4A-RING E3 ubiquittrong>introng> ligase complex. Is active trong>introng> Cul4-RING E3 ubiquittrong>introng> ligase complex. [provided by Alliance of Genome Resources, Mar 2025]
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glutamate trong>receptortrong>, ionotropic, N-methyl-D-aspartate 3A
This gene encodes a subunit of the N-methyl-D-aspartate (NMDA) trong>receptortrong>s, which belong to the superfamily of glutamate-regulated ion channels, and function trong>introng> physiological and pathological processes trong>introng> the central nervous system. This subunit shows greater than 90% identity to the correspondtrong>introng>g subunit trong>introng> rat. Studies trong>introng> the knockout mouse deficient trong>introng> this subunit suggest that this gene may be trong>introng>volved trong>introng> the development of synaptic elements by modulattrong>introng>g NMDA trong>receptortrong> activity. [provided by RefSeq, Jul 2008]
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glutamate trong>receptortrong>, ionotropic, N-methyl-D-aspartate 3B
The protetrong>introng> encoded by this gene is a subunit of an N-methyl-D-aspartate (NMDA) trong>receptortrong>. The encoded protetrong>introng> is found primarily trong>introng> motor neurons, where it forms a heterotetramer with GRIN1 to create an excitatory glyctrong>introng>e trong>receptortrong>. Variations trong>introng> this gene have been proposed to be ltrong>introng>ked to schizophrenia. [provided by RefSeq, Nov 2015]
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olfactory trong>receptortrong>, family 8, subfamily F, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 89 pseudogene
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taste trong>receptortrong>, type 2, member 20
This gene encodes a member of the taste trong>receptortrong> two family of class C G-protetrong>introng> coupled trong>receptortrong>s. trong>Receptortrong>s of this family have a short extracellular N-termtrong>introng>us, seven transmembrane helices, three extracellular loops and three trong>introng>tracellular loops, and an trong>introng>tracellular C-termtrong>introng>us. Members of this family are expressed trong>introng> a subset of taste trong>receptortrong> cells, where they function trong>introng> bitter taste reception, as well as trong>introng> non-gustatory cells trong>introng>cludtrong>introng>g those of the bratrong>introng>, reproductive organs, respiratory system, and gastrotrong>introng>testtrong>introng>al system. This gene maps to the taste trong>receptortrong> gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2016]
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taste trong>receptortrong>, type 2, member 22
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scavenger trong>receptortrong> cystetrong>introng>e rich family, 5 domatrong>introng>s
Predicted to enable fibronecttrong>introng> btrong>introng>dtrong>introng>g activity; lamtrong>introng>trong>introng> btrong>introng>dtrong>introng>g activity; and scavenger trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> defense response; detection of bacterial lipoprotetrong>introng>; and negative regulation of trong>introng>terleuktrong>introng>-8 production. Predicted to act upstream of or withtrong>introng> regulation of trong>introng>terleuktrong>introng>-8 production. Predicted to be located trong>introng> collagen-contatrong>introng>trong>introng>g extracellular matrix. Predicted to be active trong>introng> extracellular matrix and extracellular space. [provided by Alliance of Genome Resources, Mar 2025]
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poliovirus trong>receptortrong>
The protetrong>introng> encoded by this gene is a transmembrane glycoprotetrong>introng> belongtrong>introng>g to the immunoglobultrong>introng> superfamily. The external domatrong>introng> mediates cell attachment to the extracellular matrix molecule vitronecttrong>introng>, while its trong>introng>tracellular domatrong>introng> trong>introng>teracts with the dynetrong>introng> light trong>chatrong>introng>trong> Tctex-1/DYNLT1. The gene is specific to the primate ltrong>introng>eage, and serves as a cellular trong>receptortrong> for poliovirus trong>introng> the first step of poliovirus replication. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
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nuclear trong>receptortrong> trong>introng>teracttrong>introng>g protetrong>introng> 1
Nuclear trong>receptortrong> trong>introng>teracttrong>introng>g protetrong>introng> 1 (NRIP1) is a nuclear protetrong>introng> that specifically trong>introng>teracts with the hormone-dependent activation domatrong>introng> AF2 of nuclear trong>receptortrong>s. Also known as RIP140, this protetrong>introng> modulates transcriptional activity of the estrogen trong>receptortrong>. [provided by RefSeq, Jul 2008]
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nuclear trong>receptortrong> trong>introng>teracttrong>introng>g protetrong>introng> 2
Predicted to enable aspartic-type endopeptidase activity. Predicted to be trong>introng>volved trong>introng> proteolysis. Predicted to act upstream of or withtrong>introng> Notch signaltrong>introng>g pathway and negative regulation of transcription by RNA polymerase II. Located trong>introng> cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]
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nuclear trong>receptortrong> trong>introng>teracttrong>introng>g protetrong>introng> 3
Predicted to enable aspartic-type endopeptidase activity. Predicted to be trong>introng>volved trong>introng> proteolysis. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong>, family 4, subfamily A, member 9 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily A, member 41 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily AS, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily AO, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily A, member 8 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 52, subfamily L, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily U, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily W, member 1 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily W, member 1 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily J, member 3 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily B, member 2 pseudogene
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olfactory trong>receptortrong>, family 13, subfamily D, member 1 pseudogene
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olfactory trong>receptortrong>, family 5, subfamily M, member 8 pseudogene
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olfactory trong>receptortrong>, family 7, subfamily E, member 24 pseudogene
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olfactory trong>receptortrong>, family 7, subfamily E, member 24 pseudogene
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olfactory trong>receptortrong>, family 13, subfamily C, member 8 pseudogene
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olfactory trong>receptortrong>, family 13, subfamily C, member 2 pseudogene
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olfactory trong>receptortrong>, family 7, subfamily E, member 101 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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complement component (3b/4b) trong>receptortrong> 1-like
Acts upstream of or withtrong>introng> regulation of complement activation and regulation of complement-dependent cytotoxicity. Part of trong>receptortrong> complex. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong>, family 2, subfamily F, member 1 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jun 2015]
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sortiltrong>introng>-related VPS10 domatrong>introng> contatrong>introng>trong>introng>g trong>receptortrong> 1
This gene encodes one family member of vacuolar protetrong>introng> sorttrong>introng>g 10 (VPS10) domatrong>introng>-contatrong>introng>trong>introng>g trong>receptortrong> protetrong>introng>s. The VPS10 domatrong>introng> name comes from the yeast carboxypeptidase Y sorttrong>introng>g trong>receptortrong> Vps10 protetrong>introng>. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large trong>introng>trons typically separate the exons encodtrong>introng>g the VPS10 domatrong>introng>; the rematrong>introng>trong>introng>g exons are separated by much smaller-sized trong>introng>trons. These genes are strongly expressed trong>introng> the central nervous system. Two of the five family members (sortiltrong>introng> and sortiltrong>introng>-related trong>receptortrong>) are synthesized as preproprotetrong>introng>s; it is not yet known if this encoded protetrong>introng> is also a preproprotetrong>introng>. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been identified. [provided by RefSeq, Jul 2008]
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sortiltrong>introng>-related VPS10 domatrong>introng> contatrong>introng>trong>introng>g trong>receptortrong> 2
This gene encodes one family member of vacuolar protetrong>introng> sorttrong>introng>g 10 (VPS10) domatrong>introng>-contatrong>introng>trong>introng>g trong>receptortrong> protetrong>introng>s. The VPS10 domatrong>introng> name comes from the yeast carboxypeptidase Y sorttrong>introng>g trong>receptortrong> Vps10 protetrong>introng>. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large trong>introng>trons typically separate the exons encodtrong>introng>g the VPS10 domatrong>introng>; the rematrong>introng>trong>introng>g exons are separated by much smaller-sized trong>introng>trons. These genes are strongly expressed trong>introng> the central nervous system. [provided by RefSeq, Jul 2008]
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sortiltrong>introng>-related VPS10 domatrong>introng> contatrong>introng>trong>introng>g trong>receptortrong> 3
This gene encodes a type-I trong>receptortrong> transmembrane protetrong>introng> that is a member of the vacuolar protetrong>introng> sorttrong>introng>g 10 trong>receptortrong> family. Protetrong>introng>s of this family are deftrong>introng>ed by a vacuolar protetrong>introng> sorttrong>introng>g 10 domatrong>introng> at the N-termtrong>introng>us. The N-termtrong>introng>al segment of this domatrong>introng> has a consensus motif for proprotetrong>introng> convertase processtrong>introng>g, and the C-termtrong>introng>al segment of this domatrong>introng> is characterized by ten conserved cystetrong>introng>e residues. The vacuolar protetrong>introng> sorttrong>introng>g 10 domatrong>introng> is followed by a leuctrong>introng>e-rich segment, a transmembrane domatrong>introng>, and a short C-termtrong>introng>al cytoplasmic domatrong>introng> that trong>introng>teracts with adaptor molecules. The transcript is expressed at high levels trong>introng> the bratrong>introng>, and candidate gene studies suggest that genetic variation trong>introng> this gene is associated with Alzheimer's disease. Consistent with this observation, knockdown of the gene trong>introng> cell culture results trong>introng> an trong>introng>crease trong>introng> amyloid precursor protetrong>introng> processtrong>introng>g. [provided by RefSeq, Dec 2014]
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olfactory trong>receptortrong>, family 5, subfamily BT, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily BN, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 102 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 61 pseudogene
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olfactory trong>receptortrong>, family 51, subfamily F, member 3 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 52, subfamily K, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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G protetrong>introng>-coupled trong>receptortrong> 119
This gene encodes a member of the rhodopstrong>introng> subfamily of G-protetrong>introng>-coupled trong>receptortrong>s that is expressed trong>introng> the pancreas and gastrotrong>introng>testtrong>introng>al tract. The encoded protetrong>introng> is activated by lipid amides trong>introng>cludtrong>introng>g lysophosphatidylcholtrong>introng>e and oleoylethanolamide and may be trong>introng>volved trong>introng> glucose homeostasis. This protetrong>introng> is a potential drug target trong>introng> the treatment of type 2 diabetes.[provided by RefSeq, Jan 2010]
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olfactory trong>receptortrong>, family 2, subfamily L, member 3
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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purtrong>introng>ergic trong>receptortrong> P2Y, G-protetrong>introng> coupled, 14
The product of this gene belongs to the family of G-protetrong>introng> coupled trong>receptortrong>s, which contatrong>introng>s several trong>receptortrong> subtypes with different pharmacological selectivity for various adenostrong>introng>e and uridtrong>introng>e nucleotides. This trong>receptortrong> is a P2Y purtrong>introng>ergic trong>receptortrong> for UDP-glucose and other UDP-sugars coupled to G-protetrong>introng>s. It has been implicated trong>introng> extendtrong>introng>g the known immune system functions of P2Y trong>receptortrong>s by participattrong>introng>g trong>introng> the regulation of the stem cell compartment, and it may also play a role trong>introng> neuroimmune function. Two transcript variants encodtrong>introng>g the same protetrong>introng> have been identified for this gene. [provided by RefSeq, Jul 2008]
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purtrong>introng>ergic trong>receptortrong> P2Y, G-protetrong>introng> coupled, 10
The protetrong>introng> encoded by this gene belongs to the family of G-protetrong>introng> coupled trong>receptortrong>s that are preferentially activated by adenostrong>introng>e and uridtrong>introng>e nucleotides. There is a pseudogene for this gene nearby on chromosome X. Multiple alternatively spliced transcripts have been observed. [provided by RefSeq, Apr 2016]
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purtrong>introng>ergic trong>receptortrong> P2Y, G-protetrong>introng> coupled, 11
The product of this gene belongs to the family of G-protetrong>introng> coupled trong>receptortrong>s. This family has several trong>receptortrong> subtypes with different pharmacological selectivity, which overlaps trong>introng> some cases, for various adenostrong>introng>e and uridtrong>introng>e nucleotides. This trong>receptortrong> is coupled to the stimulation of the phosphotrong>introng>ositide and adenylyl cyclase pathways and behaves as a selective purtrong>introng>oceptor. Naturally occurtrong>introng>g read-through transcripts, resulttrong>introng>g from trong>introng>tergenic splictrong>introng>g between this gene and an immediately upstream gene (PPAN, encodtrong>introng>g peter pan homolog), have been found. The PPAN-P2RY11 read-through mRNA is ubiquitously expressed and encodes a fusion protetrong>introng> that shares identity with each trong>introng>dividual gene product. [provided by RefSeq, Jul 2008]
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purtrong>introng>ergic trong>receptortrong> P2Y, G-protetrong>introng> coupled, 12
The product of this gene belongs to the family of G-protetrong>introng> coupled trong>receptortrong>s. This family has several trong>receptortrong> subtypes with different pharmacological selectivity, which overlaps trong>introng> some cases, for various adenostrong>introng>e and uridtrong>introng>e nucleotides. This trong>receptortrong> is trong>introng>volved trong>introng> platelet aggregation, and is a potential target for the treatment of thromboembolisms and other clotttrong>introng>g disorders. Mutations trong>introng> this gene are implicated trong>introng> bleedtrong>introng>g disorder, platelet type 8 (BDPLT8). Alternative splictrong>introng>g results trong>introng> multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
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purtrong>introng>ergic trong>receptortrong> P2Y, G-protetrong>introng> coupled, 13
The product of this gene belongs to the family of G-protetrong>introng> coupled trong>receptortrong>s. This family has several trong>receptortrong> subtypes with different pharmacological selectivity, which overlaps trong>introng> some cases, for various adenostrong>introng>e and uridtrong>introng>e nucleotides. This trong>receptortrong> is activated by ADP. [provided by RefSeq, Sep 2008]
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TNF trong>receptortrong>-associated factor 4 pseudogene
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olfactory trong>receptortrong>, family 5, subfamily BH, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily W, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 1, subfamily X, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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osteoclast associated, immunoglobultrong>introng>-like trong>receptortrong>
Osteoclasts are multtrong>introng>ucleated cells that resorb bone and are essential for bone homeostasis. This gene encodes an osteoclast-associated trong>receptortrong> (OSCAR), which is a member of the leukocyte trong>receptortrong> complex protetrong>introng> family that plays critical roles trong>introng> the regulation of both trong>introng>nate and adaptive immune responses. The encoded protetrong>introng> may play a role trong>introng> oxidative stress-mediated atherogenesis as well as monocyte adhesion. Multiple alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]
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corticotroptrong>introng> releastrong>introng>g hormone trong>receptortrong> 2
The protetrong>introng> encoded by this gene belongs to the G-protetrong>introng> coupled trong>receptortrong> 2 family, and the subfamily of corticotroptrong>introng> releastrong>introng>g hormone trong>receptortrong>. This trong>receptortrong> shows high afftrong>introng>ity for corticotroptrong>introng> releastrong>introng>g hormone (CRH), and also btrong>introng>ds CRH-related peptides such as urocorttrong>introng>. CRH is synthesized trong>introng> the hypothalamus, and plays an important role trong>introng> coordtrong>introng>attrong>introng>g the endocrtrong>introng>e, autonomic, and behavioral responses to stress and immune challenge. Studies trong>introng> mice suggest that this trong>receptortrong> maybe trong>introng>volved trong>introng> mediattrong>introng>g cardiovascular homeostasis. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been described for this gene.[provided by RefSeq, Jan 2011]
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corticotroptrong>introng> releastrong>introng>g hormone trong>receptortrong> 1
This gene encodes a G-protetrong>introng> coupled trong>receptortrong> that btrong>introng>ds neuropeptides of the corticotroptrong>introng> releastrong>introng>g hormone family that are major regulators of the hypothalamic-pituitary-adrenal pathway. The encoded protetrong>introng> is essential for the activation of signal transduction pathways that regulate diverse physiological processes trong>introng>cludtrong>introng>g stress, reproduction, immune response and obesity. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. Naturally-occurrtrong>introng>g readthrough transcription between this gene and upstream GeneID:147081 results trong>introng> transcripts that encode isoforms that share similarity with the products of this gene. [provided by RefSeq, Aug 2016]
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olfactory trong>receptortrong>, family 51, subfamily C, member 4 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 160 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 1, subfamily E, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 1, subfamily E, member 3 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 1, subfamily E, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 24 pseudogene
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olfactory trong>receptortrong>, family 5, subfamily B, member 21 pseudogene
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dopamtrong>introng>e trong>receptortrong> D4
This gene encodes the D4 subtype of the dopamtrong>introng>e trong>receptortrong>. The D4 subtype is a G-protetrong>introng> coupled trong>receptortrong> which trong>introng>hibits adenylyl cyclase. It is a target for drugs which treat schizophrenia and Parktrong>introng>son disease. Mutations trong>introng> this gene have been associated with various behavioral phenotypes, trong>introng>cludtrong>introng>g autonomic nervous system dysfunction, attention deficit/hyperactivity disorder, and the personality trait of novelty seektrong>introng>g. This gene contatrong>introng>s a polymorphic number (2-10 copies) of tandem 48 nt repeats; the sequence shown contatrong>introng>s four repeats. [provided by RefSeq, Jul 2008]
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dopamtrong>introng>e trong>receptortrong> D5
This gene encodes the D5 subtype of the dopamtrong>introng>e trong>receptortrong>. The D5 subtype is a G-protetrong>introng> coupled trong>receptortrong> which stimulates adenylyl cyclase. This trong>receptortrong> is expressed trong>introng> neurons trong>introng> the limbic regions of the bratrong>introng>. It has a 10-fold higher afftrong>introng>ity for dopamtrong>introng>e than the D1 subtype. Pseudogenes related to this gene reside on chromosomes 1 and 2. [provided by RefSeq, Jul 2008]
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dopamtrong>introng>e trong>receptortrong> D2
This gene encodes the D2 subtype of the dopamtrong>introng>e trong>receptortrong>. This G-protetrong>introng> coupled trong>receptortrong> trong>introng>hibits adenylyl cyclase activity. A missense mutation trong>introng> this gene causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative splictrong>introng>g of this gene results trong>introng> two transcript variants encodtrong>introng>g different isoforms. A third variant has been described, but it has not been determtrong>introng>ed whether this form is normal or due to aberrant splictrong>introng>g. [provided by RefSeq, Jul 2008]
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dopamtrong>introng>e trong>receptortrong> D3
This gene encodes the D3 subtype of the five (D1-D5) dopamtrong>introng>e trong>receptortrong>s. The activity of the D3 subtype trong>receptortrong> is mediated by G protetrong>introng>s which trong>introng>hibit adenylyl cyclase. This trong>receptortrong> is localized to the limbic areas of the bratrong>introng>, which are associated with cognitive, emotional, and endocrtrong>introng>e functions. Genetic variation trong>introng> this gene may be associated with susceptibility to hereditary essential tremor 1. Alternative splictrong>introng>g of this gene results trong>introng> transcript variants encodtrong>introng>g different isoforms, although some variants may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Jul 2008]
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dopamtrong>introng>e trong>receptortrong> D1
This gene encodes the D1 subtype of the dopamtrong>introng>e trong>receptortrong>. The D1 subtype is the most abundant dopamtrong>introng>e trong>receptortrong> trong>introng> the central nervous system. This G-protetrong>introng> coupled trong>receptortrong> stimulates adenylyl cyclase and activates cyclic AMP-dependent protetrong>introng> ktrong>introng>ases. D1 trong>receptortrong>s regulate neuronal growth and development, mediate some behavioral responses, and modulate dopamtrong>introng>e trong>receptortrong> D2-mediated events. Alternate transcription trong>introng>itiation sites result trong>introng> two transcript variants of this gene. [provided by RefSeq, Jul 2008]
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vomeronasal 2 trong>receptortrong> 17 pseudogene
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tumor necrosis factor trong>receptortrong> superfamily, member 10a
The protetrong>introng> encoded by this gene is a member of the TNF-trong>receptortrong> superfamily. This trong>receptortrong> is activated by tumor necrosis factor-related apoptosis trong>introng>ductrong>introng>g ligand (TNFSF10/TRAIL), and thus transduces cell death signal and trong>introng>duces cell apoptosis. Studies with FADD-deficient mice suggested that FADD, a death domatrong>introng> contatrong>introng>trong>introng>g adaptor protetrong>introng>, is required for the apoptosis mediated by this protetrong>introng>. [provided by RefSeq, Jul 2008]
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protetrong>introng> C trong>receptortrong>, endothelial
The protetrong>introng> encoded by this gene is a trong>receptortrong> for activated protetrong>introng> C, a sertrong>introng>e protease activated by and trong>introng>volved trong>introng> the blood coagulation pathway. The encoded protetrong>introng> is an N-glycosylated type I membrane protetrong>introng> that enhances the activation of protetrong>introng> C. Mutations trong>introng> this gene have been associated with venous thromboembolism and myocardial trong>introng>farction, as well as with late fetal loss durtrong>introng>g pregnancy. The encoded protetrong>introng> may also play a role trong>introng> malarial trong>introng>fection and has been associated with cancer. [provided by RefSeq, Jul 2013]
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olfactory trong>receptortrong>, family 7, subfamily E, member 31 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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toll-like trong>receptortrong> 10
The protetrong>introng> encoded by this gene is a member of the Toll-like trong>receptortrong> (TLR) family which plays a fundamental role trong>introng> pathogen recognition and activation of trong>introng>nate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on trong>introng>fectious agents, and mediate the production of cytoktrong>introng>es necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is most highly expressed trong>introng> lymphoid tissues such as spleen, lymph node, thymus, and tonsil. Multiple alternatively spliced transcript variants which encode different protetrong>introng> isoforms have been found for this gene. [provided by RefSeq, Aug 2010]
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succtrong>introng>ate trong>receptortrong> 1
This gene encodes a G-protetrong>introng>-coupled trong>receptortrong> for succtrong>introng>ate, an trong>introng>termediate molecule of the citric acid cycle. It is trong>introng>volved trong>introng> the promotion of hematopoietic progenitor cell development, and it has a potential role trong>introng> renovascular hypertension which has known correlations to renal failure, diabetes and atherosclerosis. [provided by RefSeq, Oct 2009]
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thromboxane A2 trong>receptortrong>
This gene encodes a member of the G protetrong>introng>-coupled trong>receptortrong> family. The protetrong>introng> trong>introng>teracts with thromboxane A2 to trong>introng>duce platelet aggregation and regulate hemostasis. A mutation trong>introng> this gene results trong>introng> a bleedtrong>introng>g disorder. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
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apeltrong>introng> trong>receptortrong> early endogenous ligand
This gene encodes a peptide hormone that btrong>introng>ds to the Apeltrong>introng> trong>receptortrong>. The encoded protetrong>introng> is required for heart development trong>introng> zebrafish and has been shown to matrong>introng>tatrong>introng> self-renewal of human embryonic stem cells through activation of the PI3K/AKT pathway. Experiments trong>introng> human and mouse cell ltrong>introng>es potrong>introng>t to additional roles for the encoded protetrong>introng> trong>introng> angiogenesis and regulation of vascular tone. [provided by RefSeq, Jul 2016]
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gamma-amtrong>introng>obutyric acid (GABA) A trong>receptortrong>, rho 1
GABA is the major trong>introng>hibitory neurotransmitter trong>introng> the mammalian bratrong>introng> where it acts at GABA trong>receptortrong>s, which are ligand-gated chloride channels. GABRR1 is a member of the rho subunit family. Several transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
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gamma-amtrong>introng>obutyric acid (GABA) A trong>receptortrong>, rho 2
Gamma-amtrong>introng>obutyric acid (GABA) is the major trong>introng>hibitory neurotransmitter trong>introng> the mammalian bratrong>introng> where it acts at GABA trong>receptortrong>s, which are ligand-gated chloride channels. The protetrong>introng> encoded by this gene is a member of the rho subunit family and is a component of the GABA type A trong>receptortrong> complex. This gene exists on chromosome 6q next to the gene encodtrong>introng>g the rho 1 subunit of the GABA type A trong>receptortrong>, trong>introng> a region thought to be associated with susceptibility for psychiatric disorders and epilepsy. Polymorphisms trong>introng> this gene may also be associated with alcohol dependence, and general cognitive ability. [provided by RefSeq, Apr 2016]
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gamma-amtrong>introng>obutyric acid (GABA) A trong>receptortrong>, rho 3 (gene/pseudogene)
The neurotransmitter gamma-amtrong>introng>obutyric acid (GABA) functions trong>introng> the central nervous system to regulate synaptic transmission of neurons. This gene encodes one of three related subunits, which combtrong>introng>e as homo- or hetero-pentamers to form GABA(C) trong>receptortrong>s. trong>Introng> humans, some trong>introng>dividuals contatrong>introng> a strong>introng>gle-base polymorphism (dbSNP rs832032) that is predicted to trong>introng>activate the gene product. [provided by RefSeq, Jan 2012]
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olfactory trong>receptortrong>, family 11, subfamily H, member 12 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily AO, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 129 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily A, member 12 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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tumor necrosis factor trong>receptortrong> superfamily, member 21
This gene encodes a member of the tumor necrosis factor trong>receptortrong> superfamily. The encoded protetrong>introng> activates nuclear factor kappa-B and mitogen-activated protetrong>introng> ktrong>introng>ase 8 (also called c-Jun N-termtrong>introng>al ktrong>introng>ase 1), and trong>introng>duces cell apoptosis. Through its death domatrong>introng>, the encoded trong>receptortrong> trong>introng>teracts with tumor necrosis factor trong>receptortrong> type 1-associated death domatrong>introng> (TRADD) protetrong>introng>, which is known to mediate signal transduction of tumor necrosis factor trong>receptortrong>s. Knockout studies trong>introng> mice suggest that this gene plays a role trong>introng> T-helper cell activation, and may be trong>introng>volved trong>introng> trong>introng>flammation and immune regulation. [provided by RefSeq, Jul 2013]
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tumor necrosis factor trong>receptortrong> superfamily, member 25
The protetrong>introng> encoded by this gene is a member of the TNF-trong>receptortrong> superfamily. This trong>receptortrong> is expressed preferentially trong>introng> the tissues enriched trong>introng> lymphocytes, and it may play a role trong>introng> regulattrong>introng>g lymphocyte homeostasis. This trong>receptortrong> has been shown to stimulate NF-kappa B activity and regulate cell apoptosis. The signal transduction of this trong>receptortrong> is mediated by various death domatrong>introng> contatrong>introng>trong>introng>g adaptor protetrong>introng>s. Knockout studies trong>introng> mice suggested the role of this gene trong>introng> the removal of self-reactive T cells trong>introng> the thymus. Multiple alternatively spliced transcript variants of this gene encodtrong>introng>g disttrong>introng>ct isoforms have been reported, most of which are potentially secreted molecules. The alternative splictrong>introng>g of this gene trong>introng> B and T cells encounters a programmed change upon T-cell activation, which predomtrong>introng>antly produces full-length, membrane bound isoforms, and is thought to be trong>introng>volved trong>introng> controlltrong>introng>g lymphocyte proliferation trong>introng>duced by T-cell activation. [provided by RefSeq, Jul 2008]
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melanocorttrong>introng> 2 trong>receptortrong> accessory protetrong>introng>
This gene encodes a melanocorttrong>introng> trong>receptortrong>-trong>introng>teracttrong>introng>g protetrong>introng>. The encoded protetrong>introng> regulates trafficktrong>introng>g and function of the melanocorttrong>introng> 2 trong>receptortrong> trong>introng> the adrenal gland. The encoded protetrong>introng> can also modulate signaltrong>introng>g of other melanocorttrong>introng> trong>receptortrong>s. Mutations trong>introng> this gene have been associated with familial glucocorticoid deficiency type 2. Alternatively spliced transcript variants have been described. [provided by RefSeq, Dec 2009]
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vomeronasal 1 trong>receptortrong> 46 pseudogene
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olfactory trong>receptortrong>, family 5, subfamily AK, member 3 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 2 trong>receptortrong> 1 pseudogene
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olfactory trong>receptortrong>, family 10, subfamily Z, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily A, member 17 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily E, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily S, member 2 pseudogene
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olfactory trong>receptortrong>, family 6, subfamily R, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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signal sequence trong>receptortrong>, alpha
The signal sequence trong>receptortrong> (SSR) is a glycosylated endoplasmic reticulum (ER) membrane trong>receptortrong> associated with protetrong>introng> translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotetrong>introng> encoded by this gene and a 22-kD glycoprotetrong>introng>. This gene generates several mRNA species as a result of complex alternative polyadenylation. This gene is unusual trong>introng> that it utilizes arrays of polyA signal sequences that are mostly non-canonical. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, May 2014]
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signal sequence trong>receptortrong>, gamma (translocon-associated protetrong>introng> gamma)
The signal sequence trong>receptortrong> (SSR) is a glycosylated endoplasmic reticulum (ER) membrane trong>receptortrong> associated with protetrong>introng> translocation across the ER membrane. The SSR is comprised of four membrane protetrong>introng>s/subunits: alpha, trong>betatrong>, gamma, and delta. The first two are glycosylated subunits and the latter two are non-glycosylated subunits. This gene encodes the gamma subunit, which is predicted to span the membrane four times. [provided by RefSeq, Aug 2010]
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signal sequence trong>receptortrong>, delta
This gene encodes the delta subunit of the translocon-associated protetrong>introng> complex which is trong>introng>volved trong>introng> translocattrong>introng>g protetrong>introng>s across the endoplasmic reticulum membrane. The encoded protetrong>introng> is located trong>introng> the Xq28 region and is arranged trong>introng> a compact head-to-head manner with the isocitrate dehydrogenase 3 (NAD+) gamma gene and both genes are driven by a CpG-embedded bidirectional promoter. Alternate splictrong>introng>g results trong>introng> multiple transcript variants.[provided by RefSeq, Mar 2011]
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vomeronasal 1 trong>receptortrong> 43 pseudogene
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golgi SNAP trong>receptortrong> complex member 2 pseudogene
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olfactory trong>receptortrong>, family 7, subfamily E, member 87 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 10 pseudogene
Predicted to enable pheromone trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway and response to pheromone. Predicted to be located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong>, family 4, subfamily A, member 16
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily A, member 15
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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neuropeptides B/W trong>receptortrong> 1
Predicted to enable G protetrong>introng>-coupled trong>receptortrong> activity and neuropeptide btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> neuron projection and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong>, family 7, subfamily E, member 12 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily A, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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5-hydroxytryptamtrong>introng>e (serotontrong>introng>) trong>receptortrong> 1E, G protetrong>introng>-coupled
Enables Gi/o-coupled serotontrong>introng> trong>receptortrong> activity; serotontrong>introng> btrong>introng>dtrong>introng>g activity; and serotontrong>introng> trong>receptortrong> activity. trong>Introng>volved trong>introng> adenylate cyclase-trong>introng>hibittrong>introng>g serotontrong>introng> trong>receptortrong> signaltrong>introng>g pathway. Located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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5-hydroxytryptamtrong>introng>e (serotontrong>introng>) trong>receptortrong> 1F, G protetrong>introng>-coupled
Enables Gi/o-coupled serotontrong>introng> trong>receptortrong> activity; serotontrong>introng> btrong>introng>dtrong>introng>g activity; and serotontrong>introng> trong>receptortrong> activity. trong>Introng>volved trong>introng> adenylate cyclase-trong>introng>hibittrong>introng>g serotontrong>introng> trong>receptortrong> signaltrong>introng>g pathway. Located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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5-hydroxytryptamtrong>introng>e (serotontrong>introng>) trong>receptortrong> 1A, G protetrong>introng>-coupled
This gene encodes a G protetrong>introng>-coupled trong>receptortrong> for 5-hydroxytryptamtrong>introng>e (serotontrong>introng>), and belongs to the 5-hydroxytryptamtrong>introng>e trong>receptortrong> subfamily. Serotontrong>introng> has been implicated trong>introng> a number of physiologic processes and pathologic conditions. trong>Introng>activation of this gene trong>introng> mice results trong>introng> behavior consistent with an trong>introng>creased anxiety and stress response. Mutation trong>introng> the promoter of this gene has been associated with menstrual cycle-dependent periodic fevers. [provided by RefSeq, Jun 2012]
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olfactory trong>receptortrong>, family 8, subfamily C, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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D(1B) dopamtrong>introng>e trong>receptortrong>-like
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ABL proto-oncogene 1, non-trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase
This gene is a protooncogene that encodes a protetrong>introng> tyrostrong>introng>e ktrong>introng>ase trong>introng>volved trong>introng> a variety of cellular processes, trong>introng>cludtrong>introng>g cell division, adhesion, differentiation, and response to stress. The activity of the protetrong>introng> is negatively regulated by its SH3 domatrong>introng>, whereby deletion of the region encodtrong>introng>g this domatrong>introng> results trong>introng> an oncogene. The ubiquitously expressed protetrong>introng> has DNA-btrong>introng>dtrong>introng>g activity that is regulated by CDC2-mediated phosphorylation, suggesttrong>introng>g a cell cycle function. This gene has been found fused to a variety of translocation partner genes trong>introng> various leukemias, most notably the t(9;22) translocation that results trong>introng> a fusion with the 5' end of the breakpotrong>introng>t cluster region gene (BCR; MIM:151410). Alternative splictrong>introng>g of this gene results trong>introng> two transcript variants, which contatrong>introng> alternative first exons that are spliced to the rematrong>introng>trong>introng>g common exons. [provided by RefSeq, Aug 2014]
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ABL proto-oncogene 2, non-trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase
This gene encodes a member of the Abelson family of nontrong>receptortrong> tyrostrong>introng>e protetrong>introng> ktrong>introng>ases. The protetrong>introng> is highly similar to the c-abl oncogene 1 protetrong>introng>, trong>introng>cludtrong>introng>g the tyrostrong>introng>e ktrong>introng>ase, SH2 and SH3 domatrong>introng>s, and it plays a role trong>introng> cytoskeletal rearrangements through its C-termtrong>introng>al F-acttrong>introng>- and microtubule-btrong>introng>dtrong>introng>g sequences. This gene is expressed trong>introng> both normal and tumor cells, and is trong>introng>volved trong>introng> translocation with the ets variant 6 gene trong>introng> leukemia. Multiple alternatively spliced transcript variants encodtrong>introng>g different protetrong>introng> isoforms have been found for this gene. [provided by RefSeq, Nov 2009]
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plasmtrong>introng>ogen trong>receptortrong>, C-termtrong>introng>al lystrong>introng>e transmembrane protetrong>introng>
Predicted to be trong>introng>volved trong>introng> positive regulation of plasmtrong>introng>ogen activation. Located trong>introng> mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]
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steroid trong>receptortrong> RNA activator 1
Both long non-codtrong>introng>g and protetrong>introng>-codtrong>introng>g RNAs are transcribed from this gene, and they represent alternatively spliced transcript variants. This gene was trong>introng>itially deftrong>introng>ed as a non-codtrong>introng>g RNA, which is a coactivator for several nuclear trong>receptortrong>s (NRs) and is associated with breast cancer. It has now been found that this gene is trong>introng>volved trong>introng> the regulation of many NR and non-NR activities, trong>introng>cludtrong>introng>g metabolism, adipogenesis and chromattrong>introng> organization. The long non-codtrong>introng>g RNA transcripts trong>introng>teract with a variety of protetrong>introng>s, trong>introng>cludtrong>introng>g the protetrong>introng> encoded by this gene. The encoded protetrong>introng> acts as a transcriptional repressor by btrong>introng>dtrong>introng>g to the non-codtrong>introng>g RNA. [provided by RefSeq, Mar 2012]
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olfactory trong>receptortrong>, family 1, subfamily AC, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 9, subfamily I, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily D, member 18
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily D, member 13 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jun 2015]
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olfactory trong>receptortrong>, family 5, subfamily D, member 14
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily D, member 16
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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protetrong>introng> tyrostrong>introng>e phosphatase, trong>receptortrong> type, f polypeptide (PTPRF), trong>introng>teracttrong>introng>g protetrong>introng> (liprtrong>introng>), alpha 1 pseudogene
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protetrong>introng> tyrostrong>introng>e phosphatase, trong>receptortrong> type, f polypeptide (PTPRF), trong>introng>teracttrong>introng>g protetrong>introng> (liprtrong>introng>), alpha 1 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily F, member 21 pseudogene
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epidermal growth factor trong>receptortrong> pathway substrate 15-like 1
Enables cadhertrong>introng> btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> endosomal transport and synaptic vesicle endocytosis. Located trong>introng> membrane. [provided by Alliance of Genome Resources, Mar 2025]
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strong>introng>gle immunoglobultrong>introng> and toll-trong>introng>terleuktrong>introng> 1 trong>receptortrong> (TIR) domatrong>introng>
trong>Introng>volved trong>introng> negative regulation of Toll signaltrong>introng>g pathway. Located trong>introng> membrane. [provided by Alliance of Genome Resources, Mar 2025]
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vomeronasal 1 trong>receptortrong> 34 pseudogene
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vomeronasal 1 trong>receptortrong> 69 pseudogene
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polycysttrong>introng> (PKD) family trong>receptortrong> for egg jelly
This trong>introng>tronless gene encodes a member of the polycysttrong>introng> protetrong>introng> family. The encoded protetrong>introng> contatrong>introng>s 11 transmembrane domatrong>introng>s, a trong>receptortrong> for egg jelly (REJ) domatrong>introng>, a G-protetrong>introng>-coupled trong>receptortrong> proteolytic site (GPS) domatrong>introng>, and a polycysttrong>introng>-1, lipoxygenase, alpha-toxtrong>introng> (PLAT) domatrong>introng>. This protetrong>introng> may play a role trong>introng> human reproduction. Alternative splice variants have been described but their biological natures have not been determtrong>introng>ed. [provided by RefSeq, Jul 2008]
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neuropeptide FF trong>receptortrong> 2
This gene encodes a member of a subfamily of G-protetrong>introng>-coupled neuropeptide trong>receptortrong>s. This protetrong>introng> is activated by the neuropeptides A-18-amide (NPAF) and F-8-amide (NPFF) and may function trong>introng> patrong>introng> modulation and regulation of the opioid system. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jan 2009]
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neuropeptide FF trong>receptortrong> 1
Enables neuropeptide trong>receptortrong> activity. trong>Introng>volved trong>introng> neuropeptide signaltrong>introng>g pathway. Located trong>introng> cilium. Is active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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coagulation factor II (thrombtrong>introng>) trong>receptortrong>-like 3
This gene encodes a member of the protease-activated trong>receptortrong> subfamily, part of the G-protetrong>introng> coupled trong>receptortrong> 1 family of protetrong>introng>s. The encoded trong>receptortrong> is proteolytically processed to reveal an extracellular N-termtrong>introng>al tethered ligand that btrong>introng>ds to and activates the trong>receptortrong>. This trong>receptortrong> plays a role trong>introng> blood coagulation, trong>introng>flammation and response to patrong>introng>. Hypomethylation at this gene may be associated with lung cancer trong>introng> human patients. [provided by RefSeq, Sep 2016]
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coagulation factor II (thrombtrong>introng>) trong>receptortrong>-like 2
This gene encodes a member of the protease-activated trong>receptortrong> (PAR) family which is a subfamily of the seven transmembrane G protetrong>introng>-coupled cell surface trong>receptortrong> family. The encoded protetrong>introng> acts as a cofactor trong>introng> the thrombtrong>introng>-mediated cleavage and activation of the protease-activated trong>receptortrong> family member PAR4. The encoded protetrong>introng> plays an essential role trong>introng> hemostasis and thrombosis. Alternate splictrong>introng>g results trong>introng> multiple transcript variants that encode different isoforms. [provided by RefSeq, Feb 2012]
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coagulation factor II (thrombtrong>introng>) trong>receptortrong>-like 1
This gene encodes a member of the G-protetrong>introng> coupled trong>receptortrong> 1 family of protetrong>introng>s. The encoded cell surface trong>receptortrong> is activated through proteolytic cleavage of its extracellular amtrong>introng>o termtrong>introng>us, resulttrong>introng>g trong>introng> a new amtrong>introng>o termtrong>introng>us that acts as a tethered ligand that btrong>introng>ds to an extracellular loop domatrong>introng>. Activation of the trong>receptortrong> has been shown to stimulate vascular smooth muscle relaxation, dilate blood vessels, trong>introng>crease blood flow, and lower blood pressure. This protetrong>introng> is also important trong>introng> the trong>introng>flammatory response, as well as trong>introng>nate and adaptive immunity. [provided by RefSeq, Jun 2016]
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hepatitis A virus cellular trong>receptortrong> 1
The protetrong>introng> encoded by this gene is a membrane trong>receptortrong> for both human hepatitis A virus (HHAV) and TIMD4. The encoded protetrong>introng> may be trong>introng>volved trong>introng> the moderation of asthma and allergic diseases. The reference genome represents an allele that retatrong>introng>s a MTTVP amtrong>introng>o acid segment that confers protection agatrong>introng>st atopy trong>introng> HHAV seropositive trong>introng>dividuals. The protetrong>introng> is a trong>receptortrong> for multiple other viruses, trong>introng>cludtrong>introng>g Ebola virus, Marburg virus, Dengue virus, and Zika virus and is a possible entry factor for SARS-CoV-2 and other coronaviruses. [provided by RefSeq, Sep 2021]
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olfactory trong>receptortrong>, family 7, subfamily E, member 62 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 14 pseudogene
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leukocyte-associated immunoglobultrong>introng>-like trong>receptortrong> 1
The protetrong>introng> encoded by this gene is an trong>introng>hibitory trong>receptortrong> found on peripheral mononuclear cells, trong>introng>cludtrong>introng>g natural killer cells, T cells, and B cells. trong>Introng>hibitory trong>receptortrong>s regulate the immune response to prevent lysis of cells recognized as self. The gene is a member of both the immunoglobultrong>introng> superfamily and the leukocyte-associated trong>introng>hibitory trong>receptortrong> family. The gene maps to a region of 19q13.4 called the leukocyte trong>receptortrong> cluster, which contatrong>introng>s at least 29 genes encodtrong>introng>g leukocyte-expressed trong>receptortrong>s of the immunoglobultrong>introng> superfamily. The encoded protetrong>introng> has been identified as an anchor for tyrostrong>introng>e phosphatase SHP-1, and may trong>introng>duce cell death trong>introng> myeloid leukemias. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jan 2014]
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leukocyte-associated immunoglobultrong>introng>-like trong>receptortrong> 2
The protetrong>introng> encoded by this gene is a member of the immunoglobultrong>introng> superfamily. It was identified by its similarity to leukocyte-associated immunoglobultrong>introng>-like trong>receptortrong> 1, a membrane-bound trong>receptortrong> that modulates trong>introng>nate immune response. The protetrong>introng> encoded by this locus is a soluble trong>receptortrong> that may play roles trong>introng> both trong>introng>hibition of collagen-trong>introng>duced platelet aggregation and vessel formation durtrong>introng>g placental implantation. This gene maps to a region of 19q13.4, termed the leukocyte trong>receptortrong> cluster, which contatrong>introng>s 29 genes trong>introng> the immunoglobultrong>introng> superfamily. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2013]
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olfactory trong>receptortrong>, family 4, subfamily C, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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neuropeptides B/W trong>receptortrong> 2
The protetrong>introng> encoded by this gene is an trong>introng>tegral membrane protetrong>introng> and G protetrong>introng>-coupled trong>receptortrong>. The encoded protetrong>introng> is similar trong>introng> sequence to another G protetrong>introng>-coupled trong>receptortrong> (GPR7), and it is structurally similar to opioid and somatostattrong>introng> trong>receptortrong>s. This protetrong>introng> btrong>introng>ds neuropeptides B and W. This gene is trong>introng>tronless and is expressed primarily trong>introng> the frontal cortex of the bratrong>introng>. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily K, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily AK, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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trong>introng>terleuktrong>introng> 20 trong>receptortrong>, alpha
This gene encodes a member of the type II cytoktrong>introng>e trong>receptortrong> family. The encoded protetrong>introng> is a subunit of the trong>receptortrong> for trong>introng>terleuktrong>introng> 20, a cytoktrong>introng>e that may be trong>introng>volved trong>introng> epidermal function. The trong>introng>terleuktrong>introng> 20 trong>receptortrong> is a heterodimeric complex consisttrong>introng>g of the encoded protetrong>introng> and trong>introng>terleuktrong>introng> 20 trong>receptortrong> trong>betatrong>. This gene and trong>introng>terleuktrong>introng> 20 trong>receptortrong> trong>betatrong> are highly expressed trong>introng> sktrong>introng>, and are upregulated trong>introng> psoriasis. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jul 2013]
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protetrong>introng> tyrostrong>introng>e phosphatase, non-trong>receptortrong> type 11 pseudogene
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olfactory trong>receptortrong>, family 6, subfamily C, member 66 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 1, subfamily M, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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activtrong>introng> A trong>receptortrong>, type I
Activtrong>introng>s are dimeric growth and differentiation factors which belong to the transformtrong>introng>g growth factor-trong>betatrong> (TGF-trong>betatrong>) superfamily of structurally related signaltrong>introng>g protetrong>introng>s. Activtrong>introng>s signal through a heteromeric complex of trong>receptortrong> sertrong>introng>e ktrong>introng>ases which trong>introng>clude at least two type I ( I and IB) and two type II (II and IIB) trong>receptortrong>s. These trong>receptortrong>s are all transmembrane protetrong>introng>s, composed of a ligand-btrong>introng>dtrong>introng>g extracellular domatrong>introng> with cystetrong>introng>e-rich region, a transmembrane domatrong>introng>, and a cytoplasmic domatrong>introng> with predicted sertrong>introng>e/threontrong>introng>e specificity. Type I trong>receptortrong>s are essential for signaltrong>introng>g; and type II trong>receptortrong>s are required for btrong>introng>dtrong>introng>g ligands and for expression of type I trong>receptortrong>s. Type I and II trong>receptortrong>s form a stable complex after ligand btrong>introng>dtrong>introng>g, resulttrong>introng>g trong>introng> phosphorylation of type I trong>receptortrong>s by type II trong>receptortrong>s. This gene encodes activtrong>introng> A type I trong>receptortrong> which signals a particular transcriptional response trong>introng> concert with activtrong>introng> type II trong>receptortrong>s. Mutations trong>introng> this gene are associated with fibrodysplasia ossificans progressive. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily X, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 11, subfamily H, member 3 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily AM, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 1, subfamily M, member 4 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 39 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 110 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 55 pseudogene
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trong>introng>terleuktrong>introng> 21 trong>receptortrong>
The protetrong>introng> encoded by this gene is a cytoktrong>introng>e trong>receptortrong> for trong>introng>terleuktrong>introng> 21 (IL21). It belongs to the type I cytoktrong>introng>e trong>receptortrong>s, and has been shown to form a heterodimeric trong>receptortrong> complex with the common gamma-trong>chatrong>introng>trong>, a trong>receptortrong> subunit also shared by the trong>receptortrong>s for trong>introng>terleuktrong>introng> 2, 4, 7, 9, and 15. This trong>receptortrong> transduces the growth promottrong>introng>g signal of IL21, and is important for the proliferation and differentiation of T cells, B cells, and natural killer (NK) cells. The ligand btrong>introng>dtrong>introng>g of this trong>receptortrong> leads to the activation of multiple downstream signaltrong>introng>g molecules, trong>introng>cludtrong>introng>g JAK1, JAK3, STAT1, and STAT3. Knockout studies of a similar gene trong>introng> mouse suggest a role for this gene trong>introng> regulattrong>introng>g immunoglobultrong>introng> production. Three alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]
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progesterone trong>receptortrong> antisense RNA
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rettrong>introng>oic acid trong>receptortrong>, alpha
This gene represents a nuclear rettrong>introng>oic acid trong>receptortrong>. The encoded protetrong>introng>, rettrong>introng>oic acid trong>receptortrong> alpha, regulates transcription trong>introng> a ligand-dependent manner. This gene has been implicated trong>introng> regulation of development, differentiation, apoptosis, granulopoeisis, and transcription of clock genes. Translocations between this locus and several other loci have been associated with acute promyelocytic leukemia. Alternatively spliced transcript variants have been found for this locus.[provided by RefSeq, Sep 2010]
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taste trong>receptortrong>, type 2, member 50
TAS2R50 belongs to the large TAS2R trong>receptortrong> family. TAS2Rs are expressed on the surface of taste trong>receptortrong> cells and mediate the perception of bitterness through a G protetrong>introng>-coupled second messenger pathway (Conte et al., 2002 [PubMed 12584440]). See also TAS2R10 (MIM 604791).[supplied by OMIM, Mar 2008]
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G protetrong>introng>-coupled trong>receptortrong> 141 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily U, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 8, subfamily V, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 8, subfamily S, member 21 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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protetrong>introng> tyrostrong>introng>e phosphatase, trong>receptortrong> type, C-associated protetrong>introng>
The protetrong>introng> encoded by this gene was identified as a transmembrane phosphoprotetrong>introng> specifically associated with tyrostrong>introng>e phosphatase PTPRC/CD45, a key regulator of T- and B-lymphocyte activation. The trong>introng>teraction with PTPRC may be required for the stable expression of this protetrong>introng>. [provided by RefSeq, Jul 2008]
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vomeronasal 2 trong>receptortrong> 9 pseudogene
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olfactory trong>receptortrong>, family 5, subfamily H, member 15
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily H, member 14
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 24
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 125 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily R, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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lepttrong>introng> trong>receptortrong> overlapptrong>introng>g transcript
LEPROT is associated with the Golgi complex and endosomes and has a role trong>introng> cell surface expression of growth hormone trong>receptortrong> (GHR; MIM 600946) and lepttrong>introng> trong>receptortrong> (OBR, or LEPR; MIM 601007), thereby altertrong>introng>g trong>receptortrong>-mediated cell signaltrong>introng>g (Couturier et al., 2007 [PubMed 18042720]; Touvier et al., 2009 [PubMed 19907080]).[supplied by OMIM, Jul 2010]
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olfactory trong>receptortrong>, family 11, subfamily L, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 18 pseudogene
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cystetrong>introng>yl leukotriene trong>receptortrong> 2
The cystetrong>introng>yl leukotrienes LTC4, LTD4, and LTE4 are important mediators of human bronchial asthma. Pharmacologic studies have determtrong>introng>ed that cystetrong>introng>yl leukotrienes activate at least 2 trong>receptortrong>s, the protetrong>introng> encoded by this gene and CYSLTR1. This encoded trong>receptortrong> is a member of the superfamily of G protetrong>introng>-coupled trong>receptortrong>s. It seems to play a major role trong>introng> endocrtrong>introng>e and cardiovascular systems. [provided by RefSeq, Jul 2008]
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cystetrong>introng>yl leukotriene trong>receptortrong> 1
This gene encodes a member of the G-protetrong>introng> coupled trong>receptortrong> 1 family. The encoded protetrong>introng> is a trong>receptortrong> for cystetrong>introng>yl leukotrienes, and is trong>introng>volved trong>introng> mediattrong>introng>g bronchoconstriction via activation of a phosphatidyltrong>introng>ositol-calcium second messenger system. Activation of the encoded trong>receptortrong> results trong>introng> contraction and proliferation of bronchial smooth muscle cells, eostrong>introng>ophil migration, and damage to the mucus layer trong>introng> the lung. Upregulation of this gene is associated with asthma and dysregulation may also be implicated trong>introng> cancer. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Aug 2013]
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prostaglandtrong>introng> I2 (prostacycltrong>introng>) trong>receptortrong> (IP)
The protetrong>introng> encoded by this gene is a member of the G-protetrong>introng> coupled trong>receptortrong> family 1 and has been shown to be a trong>receptortrong> for prostacycltrong>introng>. Prostacycltrong>introng>, the major product of cyclooxygenase trong>introng> macrovascular endothelium, elicits a potent vasodilation and trong>introng>hibition of platelet aggregation through btrong>introng>dtrong>introng>g to this trong>receptortrong>. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 21 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 6, subfamily W, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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aryl hydrocarbon trong>receptortrong>
The protetrong>introng> encoded by this gene is a ligand-activated helix-loop-helix transcription factor trong>introng>volved trong>introng> the regulation of biological responses to planar aromatic hydrocarbons. This trong>receptortrong> has been shown to regulate xenobiotic-metaboliztrong>introng>g enzymes such as cytochrome P450. Before ligand btrong>introng>dtrong>introng>g, the encoded protetrong>introng> is sequestered trong>introng> the cytoplasm; upon ligand btrong>introng>dtrong>introng>g, this protetrong>introng> moves to the nucleus and stimulates transcription of target genes. [provided by RefSeq, Sep 2015]
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nuclear trong>receptortrong> 2C2-associated protetrong>introng>
Located trong>introng> nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]
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purtrong>introng>ergic trong>receptortrong> P2X, ligand gated ion channel, 6 pseudogene
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fibroblast growth factor trong>receptortrong> 3 pseudogene 5
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TNF trong>receptortrong>-associated factor 6
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chemoktrong>introng>e (C-X-C motif) trong>receptortrong> 3
This gene encodes a G protetrong>introng>-coupled trong>receptortrong> with selectivity for three chemoktrong>introng>es, termed CXCL9/Mig (monoktrong>introng>e trong>introng>duced by trong>introng>terferon-g), CXCL10/IP10 (trong>introng>terferon-g-trong>introng>ducible 10 kDa protetrong>introng>) and CXCL11/I-TAC (trong>introng>terferon-trong>introng>ducible T cell a-chemoattractant). Btrong>introng>dtrong>introng>g of chemoktrong>introng>es to this protetrong>introng> trong>introng>duces cellular responses that are trong>introng>volved trong>introng> leukocyte traffic, most notably trong>introng>tegrtrong>introng> activation, cytoskeletal changes and chemotactic migration. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene. One of the isoforms (CXCR3-B) shows high afftrong>introng>ity btrong>introng>dtrong>introng>g to chemoktrong>introng>e, CXCL4/PF4 (PMID:12782716). [provided by RefSeq, Jun 2011]
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chemoktrong>introng>e (C-X-C motif) trong>receptortrong> 2
The protetrong>introng> encoded by this gene is a member of the G-protetrong>introng>-coupled trong>receptortrong> family. This protetrong>introng> is a trong>receptortrong> for trong>introng>terleuktrong>introng> 8 (IL8). It btrong>introng>ds to IL8 with high afftrong>introng>ity, and transduces the signal through a G-protetrong>introng> activated second messenger system. This trong>receptortrong> also btrong>introng>ds to chemoktrong>introng>e (C-X-C motif) ligand 1 (CXCL1/MGSA), a protetrong>introng> with melanoma growth stimulattrong>introng>g activity, and has been shown to be a major component required for serum-dependent melanoma cell growth. This trong>receptortrong> mediates neutrophil migration to sites of trong>introng>flammation. The angiogenic effects of IL8 trong>introng> trong>introng>testtrong>introng>al microvascular endothelial cells are found to be mediated by this trong>receptortrong>. Knockout studies trong>introng> mice suggested that this trong>receptortrong> controls the positiontrong>introng>g of oligodendrocyte precursors trong>introng> developtrong>introng>g sptrong>introng>al cord by arresttrong>introng>g their migration. This gene, IL8RA, a gene encodtrong>introng>g another high afftrong>introng>ity IL8 trong>receptortrong>, as well as IL8RBP, a pseudogene of IL8RB, form a gene cluster trong>introng> a region mapped to chromosome 2q33-q36. Alternatively spliced variants, encodtrong>introng>g the same protetrong>introng>, have been identified. [provided by RefSeq, Nov 2009]
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chemoktrong>introng>e (C-X-C motif) trong>receptortrong> 1
The protetrong>introng> encoded by this gene is a member of the G-protetrong>introng>-coupled trong>receptortrong> family. This protetrong>introng> is a trong>receptortrong> for trong>introng>terleuktrong>introng> 8 (IL8). It btrong>introng>ds to IL8 with high afftrong>introng>ity, and transduces the signal through a G-protetrong>introng> activated second messenger system. Knockout studies trong>introng> mice suggested that this protetrong>introng> trong>introng>hibits embryonic oligodendrocyte precursor migration trong>introng> developtrong>introng>g sptrong>introng>al cord. This gene, IL8RB, a gene encodtrong>introng>g another high afftrong>introng>ity IL8 trong>receptortrong>, as well as IL8RBP, a pseudogene of IL8RB, form a gene cluster trong>introng> a region mapped to chromosome 2q33-q36. [provided by RefSeq, Jul 2008]
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chemoktrong>introng>e (C-X-C motif) trong>receptortrong> 6
The protetrong>introng> encoded by this gene is a G protetrong>introng>-coupled trong>receptortrong> with seven transmembrane domatrong>introng>s that belongs to the CXC chemoktrong>introng>e trong>receptortrong> family. This family also trong>introng>cludes CXCR1, CXCR2, CXCR3, CXCR4, CXCR5, and CXCR7. This gene, which maps to the chemoktrong>introng>e trong>receptortrong> gene cluster, is expressed trong>introng> several T lymphocyte subsets and bone marrow stromal cells. The encoded protetrong>introng> and its exclusive ligand, chemoktrong>introng>e ligand 16 (CCL16), are part of a signalltrong>introng>g pathway that regulates T lymphocyte migration to various peripheral tissues (the liver, spleen red pulp, trong>introng>testtrong>introng>e, lungs, and sktrong>introng>) and promotes cell-cell trong>introng>teraction with dendritic cells and fibroblastic reticular cells. CXCR6/CCL16 also controls the localization of resident memory T lymphocytes to different compartments of the lung and matrong>introng>tatrong>introng>s airway resident memory T lymphocytes, which are an important first ltrong>introng>e of defense agatrong>introng>st respiratory pathogens. The encoded protetrong>introng> serves as an entry cotrong>receptortrong> used by HIV-1 and SIV to enter target cells, trong>introng> conjunction with CD4. [provided by RefSeq, Aug 2020]
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chemoktrong>introng>e (C-X-C motif) trong>receptortrong> 5
This gene encodes a multi-pass membrane protetrong>introng> that belongs to the CXC chemoktrong>introng>e trong>receptortrong> family. It is expressed trong>introng> mature B-cells and Burkitt's lymphoma. This cytoktrong>introng>e trong>receptortrong> btrong>introng>ds to B-lymphocyte chemoattractant (BLC), and is trong>introng>volved trong>introng> B-cell migration trong>introng>to B-cell follicles of spleen and Peyer patches. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
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chemoktrong>introng>e (C-X-C motif) trong>receptortrong> 4
This gene encodes a CXC chemoktrong>introng>e trong>receptortrong> specific for stromal cell-derived factor-1. The protetrong>introng> has 7 transmembrane regions and is located on the cell surface. It acts with the CD4 protetrong>introng> to support HIV entry trong>introng>to cells and is also highly expressed trong>introng> breast cancer cells. Mutations trong>introng> this gene have been associated with WHIM (warts, hypogammaglobultrong>introng>emia, trong>introng>fections, and myelokathexis) syndrome. Alternate transcriptional splice variants, encodtrong>introng>g different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 9, subfamily A, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 9, subfamily A, member 4
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily A, member 10 pseudogene
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olfactory trong>receptortrong>, family 7, subfamily E, member 24 pseudogene
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olfactory trong>receptortrong>, family 52, subfamily B, member 6 pseudogene
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olfactory trong>receptortrong>, family 51, subfamily L, member 1 pseudogene
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olfactory trong>receptortrong>, family 52, subfamily M, member 1 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily V, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 9, subfamily G, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 9, subfamily H, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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adenostrong>introng>e A1 trong>receptortrong>
The protetrong>introng> encoded by this gene is an adenostrong>introng>e trong>receptortrong> that belongs to the G-protetrong>introng> coupled trong>receptortrong> 1 family. There are 3 types of adenostrong>introng>e trong>receptortrong>s, each with a specific pattern of ligand btrong>introng>dtrong>introng>g and tissue distribution, and together they regulate a diverse set of physiologic functions. The type A1 trong>receptortrong>s trong>introng>hibit adenylyl cyclase, and play a role trong>introng> the fertilization process. Animal studies also suggest a role for A1 trong>receptortrong>s trong>introng> kidney function and ethanol trong>introng>toxication. Transcript variants with alternative splictrong>introng>g trong>introng> the 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008]
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adenostrong>introng>e A3 trong>receptortrong>
This gene encodes a protetrong>introng> that belongs to the family of adenostrong>introng>e trong>receptortrong>s, which are G-protetrong>introng>-coupled trong>receptortrong>s that are trong>introng>volved trong>introng> a variety of trong>introng>tracellular signaltrong>introng>g pathways and physiological functions. The trong>receptortrong> encoded by this gene mediates a sustatrong>introng>ed cardioprotective function durtrong>introng>g cardiac ischemia, it is trong>introng>volved trong>introng> the trong>introng>hibition of neutrophil degranulation trong>introng> neutrophil-mediated tissue trong>introng>jury, it has been implicated trong>introng> both neuroprotective and neurodegenerative effects, and it may also mediate both cell proliferation and cell death. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. This gene shares its 5' termtrong>introng>al exon with some transcripts from overlapptrong>introng>g GeneID:57413, which encodes an immunoglobultrong>introng> domatrong>introng>-contatrong>introng>trong>introng>g protetrong>introng>. [provided by RefSeq, Nov 2014]
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olfactory trong>receptortrong>, family 8, subfamily G, member 7 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 51, subfamily A, member 8 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily BA, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily M, member 5
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily M, member 4
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily M, member 7
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily M, member 3
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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G protetrong>introng>-coupled trong>receptortrong> ktrong>introng>ase 6
This gene encodes a member of the guantrong>introng>e nucleotide-btrong>introng>dtrong>introng>g protetrong>introng> (G protetrong>introng>)-coupled trong>receptortrong> ktrong>introng>ase subfamily of the Ser/Thr protetrong>introng> ktrong>introng>ase family. The protetrong>introng> phosphorylates the activated forms of G protetrong>introng>-coupled trong>receptortrong>s thus trong>introng>itiattrong>introng>g their deactivation. Several transcript variants encodtrong>introng>g different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
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G protetrong>introng>-coupled trong>receptortrong> ktrong>introng>ase 7
This gene encodes a member of the guantrong>introng>e nucleotide-btrong>introng>dtrong>introng>g protetrong>introng> (G protetrong>introng>)-coupled trong>receptortrong> ktrong>introng>ase subfamily of the Ser/Thr protetrong>introng> ktrong>introng>ase family. It is specifically expressed trong>introng> the rettrong>introng>a and the encoded protetrong>introng> has been shown to phosphorylate cone opstrong>introng>s and trong>introng>itiate their deactivation. [provided by RefSeq, Jul 2008]
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G protetrong>introng>-coupled trong>receptortrong> ktrong>introng>ase 4
This gene encodes a member of the guantrong>introng>e nucleotide-btrong>introng>dtrong>introng>g protetrong>introng> (G protetrong>introng>)-coupled trong>receptortrong> ktrong>introng>ase subfamily of the Ser/Thr protetrong>introng> ktrong>introng>ase family. The protetrong>introng> phosphorylates the activated forms of G protetrong>introng>-coupled trong>receptortrong>s thus trong>introng>itiattrong>introng>g its deactivation. This gene has been ltrong>introng>ked to both genetic and acquired hypertension. Several transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
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G protetrong>introng>-coupled trong>receptortrong> ktrong>introng>ase 5
This gene encodes a member of the guantrong>introng>e nucleotide-btrong>introng>dtrong>introng>g protetrong>introng> (G protetrong>introng>)-coupled trong>receptortrong> ktrong>introng>ase subfamily of the Ser/Thr protetrong>introng> ktrong>introng>ase family. The protetrong>introng> phosphorylates the activated forms of G protetrong>introng>-coupled trong>receptortrong>s thus trong>introng>itiattrong>introng>g their deactivation. It has also been shown to play a role trong>introng> regulattrong>introng>g the motility of polymorphonuclear leukocytes (PMNs). [provided by RefSeq, Jul 2008]
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G protetrong>introng>-coupled trong>receptortrong> ktrong>introng>ase 1
This gene encodes a member of the guantrong>introng>e nucleotide-btrong>introng>dtrong>introng>g protetrong>introng> (G protetrong>introng>)-coupled trong>receptortrong> ktrong>introng>ase subfamily of the Ser/Thr protetrong>introng> ktrong>introng>ase family. The protetrong>introng> phosphorylates rhodopstrong>introng> and trong>introng>itiates its deactivation. Defects trong>introng> GRK1 are known to cause Oguchi disease 2 (also known as stationary night bltrong>introng>dness Oguchi type-2). [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 56, subfamily B, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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adhesion G protetrong>introng>-coupled trong>receptortrong> A1
This gene encodes a protetrong>introng> that belongs to the adhesion family of G-protetrong>introng>-coupled trong>receptortrong>s. Members of this family function trong>introng> several sensory systems and regulate blood pressure, immune responses, food trong>introng>take and development. A similar protetrong>introng> trong>introng> rodents is thought to play a role trong>introng> trong>introng> the regulation of neuronal signaltrong>introng>g pathways. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determtrong>introng>ed. [provided by RefSeq, Mar 2014]
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adhesion G protetrong>introng>-coupled trong>receptortrong> A3
This gene encodes a member of the G protetrong>introng>-coupled trong>receptortrong> superfamily. This membrane protetrong>introng> may play a role trong>introng> tumor angiogenesis through its trong>introng>teraction with the human homolog of the Drosophila disc large tumor suppressor gene. This gene is mapped to a candidate region of chromosome 4 which may be associated with bipolar disorder and schizophrenia. [provided by RefSeq, Oct 2012]
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adhesion G protetrong>introng>-coupled trong>receptortrong> A2
Predicted to enable G protetrong>introng>-coupled trong>receptortrong> activity. trong>Introng>volved trong>introng> canonical Wnt signaltrong>introng>g pathway. Located trong>introng> trong>introng>tracellular membrane-bounded organelle and plasma membrane. Part of Wnt signalosome. [provided by Alliance of Genome Resources, Mar 2025]
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taste trong>receptortrong>, type 2, member 64, pseudogene
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vomeronasal 1 trong>receptortrong> 93 pseudogene
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olfactory trong>receptortrong>, family 5, subfamily D, member 17 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 8, subfamily B, member 12
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 8, subfamily B, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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glutamate trong>receptortrong>, metabotropic 5 pseudogene
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growth factor trong>receptortrong>-bound protetrong>introng> 10
The product of this gene belongs to a small family of adapter protetrong>introng>s that are known to trong>introng>teract with a number of trong>receptortrong> tyrostrong>introng>e ktrong>introng>ases and signaltrong>introng>g molecules. This gene encodes a growth factor trong>receptortrong>-btrong>introng>dtrong>introng>g protetrong>introng> that trong>introng>teracts with trong>introng>sultrong>introng> trong>receptortrong>s and trong>introng>sultrong>introng>-like growth-factor trong>receptortrong>s. Overexpression of some isoforms of the encoded protetrong>introng> trong>introng>hibits tyrostrong>introng>e ktrong>introng>ase activity and results trong>introng> growth suppression. This gene is imprtrong>introng>ted trong>introng> a highly isoform- and tissue-specific manner, with expression observed from the paternal allele trong>introng> the bratrong>introng>, and from the maternal allele trong>introng> the placental trophoblasts. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been identified. [provided by RefSeq, Oct 2010]
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growth factor trong>receptortrong>-bound protetrong>introng> 14
The product of this gene belongs to a small family of adapter protetrong>introng>s that are known to trong>introng>teract with a number of trong>receptortrong> tyrostrong>introng>e ktrong>introng>ases and signaltrong>introng>g molecules. This gene encodes a growth factor trong>receptortrong>-btrong>introng>dtrong>introng>g protetrong>introng> that trong>introng>teracts with trong>introng>sultrong>introng> trong>receptortrong>s and trong>introng>sultrong>introng>-like growth-factor trong>receptortrong>s. This protetrong>introng> likely has an trong>introng>hibitory effect on trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase signaltrong>introng>g and, trong>introng> particular, on trong>introng>sultrong>introng> trong>receptortrong> signaltrong>introng>g. This gene may play a role trong>introng> signaltrong>introng>g pathways that regulate growth and metabolism. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Dec 2014]
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G protetrong>introng>-coupled trong>receptortrong> 15
This gene encodes a G protetrong>introng>-coupled trong>receptortrong> that acts as a chemoktrong>introng>e trong>receptortrong> for human immunodeficiency virus type 1 and 2. The encoded protetrong>introng> localizes to the cell membrane. [provided by RefSeq, Nov 2012]
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G protetrong>introng>-coupled trong>receptortrong> 12
Predicted to enable G protetrong>introng>-coupled trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> adenylate cyclase-activattrong>introng>g G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway and regulation of metabolic process. Predicted to act upstream of or withtrong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway and trong>introng>tracellular calcium ion homeostasis. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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G protetrong>introng>-coupled trong>receptortrong> 19
Predicted to enable G protetrong>introng>-coupled trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway. Located trong>introng> cilium. [provided by Alliance of Genome Resources, Mar 2025]
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G protetrong>introng>-coupled trong>receptortrong> 18
Predicted to enable G protetrong>introng>-coupled trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway. Predicted to act upstream of or withtrong>introng> T cell differentiation; negative regulation of leukocyte chemotaxis; and negative regulation of tumor necrosis factor production. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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aryl hydrocarbon trong>receptortrong> nuclear translocator-like
The protetrong>introng> encoded by this gene is a basic helix-loop-helix protetrong>introng> that forms a heterodimer with CLOCK. This heterodimer btrong>introng>ds E-box enhancer elements upstream of Period (PER1, PER2, PER3) and Cryptochrome (CRY1, CRY2) genes and activates transcription of these genes. PER and CRY protetrong>introng>s heterodimerize and repress their own transcription by trong>introng>teracttrong>introng>g trong>introng> a feedback loop with CLOCK/ARNTL complexes. Defects trong>introng> this gene have been ltrong>introng>ked to trong>introng>fertility, problems with gluconeogenesis and lipogenesis, and altered sleep patterns. The protetrong>introng> regulates trong>introng>terferon-stimulated gene expression and is an important factor trong>introng> viral trong>introng>fection, trong>introng>cludtrong>introng>g COVID-19. [provided by RefSeq, Oct 2021]
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olfactory trong>receptortrong>, family 14, subfamily C, member 36
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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aryl-hydrocarbon trong>receptortrong> nuclear translocator 2
This gene encodes a member of the basic-helix-loop-helix-Per-Arnt-Sim (bHLH-PAS) superfamily of transcription factors. The encoded protetrong>introng> acts as a partner for several sensor protetrong>introng>s of the bHLH-PAS family, formtrong>introng>g heterodimers with the sensor protetrong>introng>s that btrong>introng>d regulatory DNA sequences trong>introng> genes responsive to developmental and environmental stimuli. Under hypoxic conditions, the encoded protetrong>introng> complexes with hypoxia-trong>introng>ducible factor 1alpha trong>introng> the nucleus and this complex btrong>introng>ds to hypoxia-responsive elements trong>introng> enhancers and promoters of oxygen-responsive genes. A highly similar protetrong>introng> trong>introng> mouse forms functional complexes with both aryl hydrocarbon trong>receptortrong>s and Strong>introng>gle-mtrong>introng>ded protetrong>introng>s, suggesttrong>introng>g additional roles for the encoded protetrong>introng> trong>introng> the metabolism of xenobiotic compounds and the regulation of neurogenesis, respectively. [provided by RefSeq, Dec 2013]
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olfactory trong>receptortrong>, family 10, subfamily AE, member 3 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 51, subfamily N, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily E, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 145 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 6, subfamily K, member 4 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 51, subfamily A, member 7 pseudogene
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vomeronasal 1 trong>receptortrong> 26 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily B, member 7 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 11, subfamily N, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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phospholipase A2 trong>receptortrong> 1, 180kDa
This gene represents a phospholipase A2 trong>receptortrong>. The encoded protetrong>introng> likely exists as both a transmembrane form and a soluble form. The transmembrane trong>receptortrong> may play a role trong>introng> clearance of phospholipase A2, thereby trong>introng>hibittrong>introng>g its action. Polymorphisms at this locus have been associated with susceptibility to idiopathic membranous nephropathy. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been identified.[provided by RefSeq, Sep 2010]
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olfactory trong>receptortrong>, family 2, subfamily G, member 6 pseudogene
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olfactory trong>receptortrong>, family 52, subfamily H, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily AU, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 13, subfamily J, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 92 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily U, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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ectodysplastrong>introng> A2 trong>receptortrong>
The protetrong>introng> encoded by this gene is a type III transmembrane protetrong>introng> of the TNFR (tumor necrosis factor trong>receptortrong>) superfamily, and contatrong>introng>s cystetrong>introng>e-rich repeats and a strong>introng>gle transmembrane domatrong>introng>. This protetrong>introng> btrong>introng>ds to the EDA-A2 isoform of ectodysplastrong>introng>, which plays an important role trong>introng> matrong>introng>tenance of hair and teeth. Alternatively spliced transcript variants encodes disttrong>introng>ct protetrong>introng> isoforms. [provided by RefSeq, Apr 2016]
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rettrong>introng>oic acid trong>receptortrong>, gamma
This gene encodes a rettrong>introng>oic acid trong>receptortrong> that belongs to the nuclear hormone trong>receptortrong> family. Rettrong>introng>oic acid trong>receptortrong>s (RARs) act as ligand-dependent transcriptional regulators. When bound to ligands, RARs activate transcription by btrong>introng>dtrong>introng>g as heterodimers to the rettrong>introng>oic acid response elements (RARE) found trong>introng> the promoter regions of the target genes. trong>Introng> their unbound form, RARs repress transcription of their target genes. RARs are trong>introng>volved trong>introng> various biological processes, trong>introng>cludtrong>introng>g limb bud development, skeletal growth, and matrix homeostasis. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
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olfactory trong>receptortrong>, family 5, subfamily BP, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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neuropeptide Y trong>receptortrong> Y4
Enables pancreatic polypeptide trong>receptortrong> activity and peptide hormone btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway. Located trong>introng> membrane. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong>, family 7, subfamily E, member 90 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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opioid trong>receptortrong>, kappa 1
This gene encodes an opioid trong>receptortrong>, which is a member of the 7 transmembrane-spanntrong>introng>g G protetrong>introng>-coupled trong>receptortrong> family. It functions as a trong>receptortrong> for endogenous ligands, as well as a trong>receptortrong> for various synthetic opioids. Ligand btrong>introng>dtrong>introng>g results trong>introng> trong>introng>hibition of adenylate cyclase activity and neurotransmitter release. This opioid trong>receptortrong> plays a role trong>introng> the perception of patrong>introng> and mediattrong>introng>g the hypolocomotor, analgesic and aversive actions of synthetic opioids. Variations trong>introng> this gene have also been associated with alcohol dependence and opiate addiction. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene. A recent study provided evidence for translational readthrough trong>introng> this gene, and expression of an additional C-termtrong>introng>ally extended isoform via the use of an alternative trong>introng>-frame translation termtrong>introng>ation codon. [provided by RefSeq, Dec 2017]
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olfactory trong>receptortrong>, family 56, subfamily A, member 4
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 56, subfamily A, member 3
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 56, subfamily A, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily D, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily R, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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oxoglutarate (alpha-ketoglutarate) trong>receptortrong> 1
This gene encodes a G protetrong>introng>-coupled trong>receptortrong> (GPCR) that belongs to the oxoglutarate trong>receptortrong> family withtrong>introng> the GPCR superfamily. The encoded protetrong>introng> is activated by the citric acid trong>introng>termediate, oxoglutarate, as well as several cystetrong>introng>yl leukotrienes, trong>introng>cludtrong>introng>g leukotrienes E4, C4 and D4, which are implicated trong>introng> many trong>introng>flammatory disorders. trong>Introng> mice, a knock-out of this gene leads to middle ear trong>introng>flammation, changes trong>introng> the mucosal epithelium, and an trong>introng>crease trong>introng> fluid behtrong>introng>d the eardrum, and is associated with heartrong>introng>g loss. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Oct 2016]
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olfactory trong>receptortrong>, family 10, subfamily J, member 4 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jan 2017]
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olfactory trong>receptortrong>, family 10, subfamily J, member 5
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily J, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily J, member 3
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This gene is considered a pseudogene because the encoded protetrong>introng> is truncated and misstrong>introng>g the last transmembrane domatrong>introng> trong>introng> several mammals.[provided by RefSeq, Jun 2021]
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glutamate trong>receptortrong>, ionotropic, N-methyl D-aspartate 1
The protetrong>introng> encoded by this gene is a critical subunit of N-methyl-D-aspartate trong>receptortrong>s, members of the glutamate trong>receptortrong> channel superfamily which are heteromeric protetrong>introng> complexes with multiple subunits arranged to form a ligand-gated ion channel. These subunits play a key role trong>introng> the plasticity of synapses, which is believed to underlie memory and learntrong>introng>g. Cell-specific factors are thought to control expression of different isoforms, possibly contributtrong>introng>g to the functional diversity of the subunits. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]
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glutamate trong>receptortrong>, ionotropic, N-methyl D-aspartate-associated protetrong>introng> 1 (glutamate btrong>introng>dtrong>introng>g)
Predicted to enable calcium channel activity. Predicted to be trong>introng>volved trong>introng> apoptotic signaltrong>introng>g pathway; negative regulation of extrtrong>introng>sic apoptotic signaltrong>introng>g pathway via death domatrong>introng> trong>receptortrong>s; and negative regulation of neuron apoptotic process. Predicted to act upstream of or withtrong>introng> endoplasmic reticulum calcium ion homeostasis and negative regulation of endoplasmic reticulum stress-trong>introng>duced trong>introng>trtrong>introng>sic apoptotic signaltrong>introng>g pathway. Located trong>introng> Golgi membrane. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong>, family 2, subfamily B, member 2 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily W, member 3 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily W, member 1 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily B, member 2 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily W, member 1 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily B, member 6 pseudogene
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low density lipoprotetrong>introng> trong>receptortrong>-related protetrong>introng> associated protetrong>introng> 1
This gene encodes a protetrong>introng> that trong>introng>teracts with the low density lipoprotetrong>introng> (LDL) trong>receptortrong>-related protetrong>introng> and facilitates its proper foldtrong>introng>g and localization by preventtrong>introng>g the btrong>introng>dtrong>introng>g of ligands. Mutations trong>introng> this gene have been identified trong>introng> trong>introng>dividuals with myopia 23. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Dec 2013]
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olfactory trong>receptortrong>, family 6, subfamily P, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 76 pseudogene
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olfactory trong>receptortrong>, family 7, subfamily E, member 122 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily A, member 19 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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apeltrong>introng> trong>receptortrong>
This gene encodes a member of the G protetrong>introng>-coupled trong>receptortrong> gene family. The encoded protetrong>introng> is related to the angiotenstrong>introng> trong>receptortrong>, but is actually an apeltrong>introng> trong>receptortrong> that trong>introng>hibits adenylate cyclase activity and plays a counter-regulatory role agatrong>introng>st the pressure action of angiotenstrong>introng> II by exerttrong>introng>g hypertensive effect. It functions trong>introng> the cardiovascular and central nervous systems, trong>introng> glucose metabolism, trong>introng> embryonic and tumor angiogenesis and as a human immunodeficiency virus (HIV-1) cotrong>receptortrong>. Two transcript variants resulttrong>introng>g from alternative splictrong>introng>g have been identified. [provided by RefSeq, Jul 2009]
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leukocyte immunoglobultrong>introng>-like trong>receptortrong>, subfamily A (with TM domatrong>introng>), member 2 pseudogene
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trong>introng>terleuktrong>introng> 9 trong>receptortrong> pseudogene 1
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trong>introng>terleuktrong>introng> 9 trong>receptortrong> pseudogene 2
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trong>introng>terleuktrong>introng> 9 trong>receptortrong> pseudogene 3
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colony stimulattrong>introng>g factor 2 trong>receptortrong>, alpha, low-afftrong>introng>ity (granulocyte-macrophage)
The protetrong>introng> encoded by this gene is the alpha subunit of the heterodimeric trong>receptortrong> for colony stimulattrong>introng>g factor 2, a cytoktrong>introng>e which controls the production, differentiation, and function of granulocytes and macrophages. The encoded protetrong>introng> is a member of the cytoktrong>introng>e family of trong>receptortrong>s. This gene is found trong>introng> the pseudoautosomal region (PAR) of the X and Y chromosomes. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene, with some of the isoforms betrong>introng>g membrane-bound and others betrong>introng>g soluble. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 8, subfamily U, member 9
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 8, subfamily U, member 8
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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nuclear trong>receptortrong> btrong>introng>dtrong>introng>g factor 2 pseudogene 4
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olfactory trong>receptortrong>, family 8, subfamily U, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 51, subfamily R, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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calcitontrong>introng> trong>receptortrong>-like
Enables adrenomedulltrong>introng> btrong>introng>dtrong>introng>g activity; adrenomedulltrong>introng> trong>receptortrong> activity; and calcitontrong>introng> gene-related peptide trong>receptortrong> activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway; cellular response to sucrose stimulus; and trong>receptortrong> trong>introng>ternalization. Located trong>introng> several cellular components, trong>introng>cludtrong>introng>g endoplasmic reticulum; endosome; and lysosome. Part of CGRP trong>receptortrong> complex and adrenomedulltrong>introng> trong>receptortrong> complex. Implicated trong>introng> hereditary lymphedema. [provided by Alliance of Genome Resources, Mar 2025]
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oxidized low density lipoprotetrong>introng> (lecttrong>introng>-like) trong>receptortrong> 1
This gene encodes a low density lipoprotetrong>introng> trong>receptortrong> that belongs to the C-type lecttrong>introng> superfamily. This gene is regulated through the cyclic AMP signaltrong>introng>g pathway. The encoded protetrong>introng> btrong>introng>ds, trong>introng>ternalizes and degrades oxidized low-density lipoprotetrong>introng>. This protetrong>introng> may be trong>introng>volved trong>introng> the regulation of Fas-trong>introng>duced apoptosis. This protetrong>introng> may play a role as a scavenger trong>receptortrong>. Mutations of this gene have been associated with atherosclerosis, risk of myocardial trong>introng>farction, and may modify the risk of Alzheimer's disease. Alternate splictrong>introng>g results trong>introng> multiple transcript variants.[provided by RefSeq, Feb 2010]
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opioid growth factor trong>receptortrong>-like 1
Predicted to enable opioid growth factor trong>receptortrong> activity. Predicted to be located trong>introng> membrane. [provided by Alliance of Genome Resources, Mar 2025]
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trong>introng>terleuktrong>introng> 4 trong>receptortrong>
This gene encodes the alpha trong>chatrong>introng>trong> of the trong>introng>terleuktrong>introng>-4 trong>receptortrong>, a type I transmembrane protetrong>introng> that can btrong>introng>d trong>introng>terleuktrong>introng> 4 and trong>introng>terleuktrong>introng> 13 to regulate IgE production. The encoded protetrong>introng> also can btrong>introng>d trong>introng>terleuktrong>introng> 4 to promote differentiation of Th2 cells. A soluble form of the encoded protetrong>introng> can be produced by proteolysis of the membrane-bound protetrong>introng>, and this soluble form can trong>introng>hibit IL4-mediated cell proliferation and IL5 upregulation by T-cells. Allelic variations trong>introng> this gene have been associated with atopy, a condition that can manifest itself as allergic rhtrong>introng>itis, strong>introng>usitus, asthma, or eczema. Polymorphisms trong>introng> this gene are also associated with resistance to human immunodeficiency virus type-1 trong>introng>fection. Alternate splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Apr 2012]
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GRP1 (general trong>receptortrong> for phosphotrong>introng>ositides 1)-associated scaffold protetrong>introng>
This gene encodes a protetrong>introng> that functions as a molecular scaffold, ltrong>introng>ktrong>introng>g trong>receptortrong>s, trong>introng>cludtrong>introng>g group 1 metabotropic glutamate trong>receptortrong>s, to neuronal protetrong>introng>s. The encoded protetrong>introng> contatrong>introng>s conserved domatrong>introng>s, trong>introng>cludtrong>introng>g a leuctrong>introng>e zipper sequence, PDZ domatrong>introng> and a C-termtrong>introng>al PDZ-btrong>introng>dtrong>introng>g motif. Alternately spliced transcript variants have been observed for this gene.[provided by RefSeq, Dec 2012]
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olfactory trong>receptortrong>, family 5, subfamily R, member 1 pseudogene
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olfactory trong>receptortrong>, family 9, subfamily G, member 9 pseudogene
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olfactory trong>receptortrong>, family 9, subfamily I, member 1 pseudogene
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olfactory trong>receptortrong>, family 8, subfamily I, member 2 pseudogene
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olfactory trong>receptortrong>, family 8, subfamily J, member 3 pseudogene
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olfactory trong>receptortrong>, family 5, subfamily M, member 3 pseudogene
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olfactory trong>receptortrong>, family 5, subfamily B, member 3 pseudogene
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olfactory trong>receptortrong>, family 51, subfamily H, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 2 trong>receptortrong> 16 pseudogene
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olfactory trong>receptortrong>, family 7, subfamily E, member 55 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 51, subfamily V, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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low density lipoprotetrong>introng> trong>receptortrong>
The low density lipoprotetrong>introng> trong>receptortrong> (LDLR) gene family consists of cell surface protetrong>introng>s trong>introng>volved trong>introng> trong>receptortrong>-mediated endocytosis of specific ligands. The encoded protetrong>introng> is normally bound at the cell membrane, where it btrong>introng>ds low density lipoprotetrong>introng>/cholesterol and is taken trong>introng>to the cell. Lysosomes release the cholesterol, which is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limittrong>introng>g step trong>introng> cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations trong>introng> this gene cause the autosomal domtrong>introng>ant disorder, familial hypercholesterolemia. Alternate splictrong>introng>g results trong>introng> multiple transcript variants.[provided by RefSeq, May 2022]
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olfactory trong>receptortrong>, family 2, subfamily A, member 41 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 52, subfamily L, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 8, subfamily B, member 9 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily T, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily T, member 3
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily T, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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mitochondrial import trong>receptortrong> subunit TOM20 homolog pseudogene
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trong>introng>terleuktrong>introng> 17 trong>receptortrong> E-like
Predicted to enable trong>introng>terleuktrong>introng>-17 trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> cytoktrong>introng>e-mediated signaltrong>introng>g pathway. Predicted to be located trong>introng> extracellular region. [provided by Alliance of Genome Resources, Mar 2025]
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feltrong>introng>e leukemia virus subgroup C cellular trong>receptortrong> family, member 2
This gene encodes a member of the major facilitator superfamily. The encoded transmembrane protetrong>introng> is a calcium transporter. Unlike the related protetrong>introng> feltrong>introng>e leukemia virus subgroup C trong>receptortrong> 1, the protetrong>introng> encoded by this locus does not btrong>introng>d to feltrong>introng>e leukemia virus subgroup C envelope protetrong>introng>. The encoded protetrong>introng> may play a role trong>introng> development of bratrong>introng> vascular endothelial cells, as mutations at this locus have been associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Aug 2010]
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feltrong>introng>e leukemia virus subgroup C cellular trong>receptortrong> 1
This gene encodes a member of the major facilitator superfamily of transporter protetrong>introng>s. The encoded protetrong>introng> is a heme transporter that may play a critical role trong>introng> erythropoiesis by protecttrong>introng>g developtrong>introng>g erythroid cells from heme toxicity. This gene may play a role trong>introng> posterior column ataxia with rettrong>introng>itis pigmentosa and the hematological disorder Diamond-Blackfan syndrome. [provided by RefSeq, Jan 2011]
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seven transmembrane helix trong>receptortrong>
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trong>introng>sultrong>introng> trong>receptortrong>
This gene encodes a member of the trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase family of protetrong>introng>s. The encoded preproprotetrong>introng> is proteolytically processed to generate alpha and trong>betatrong> subunits that form a heterotetrameric trong>receptortrong>. Btrong>introng>dtrong>introng>g of trong>introng>sultrong>introng> or other ligands to this trong>receptortrong> activates the trong>introng>sultrong>introng> signaltrong>introng>g pathway, which regulates glucose uptake and release, as well as the synthesis and storage of carbohydrates, lipids and protetrong>introng>. Mutations trong>introng> this gene underlie the trong>introng>herited severe trong>introng>sultrong>introng> resistance syndromes trong>introng>cludtrong>introng>g type A trong>introng>sultrong>introng> resistance syndrome, Donohue syndrome and Rabson-Mendenhall syndrome. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Oct 2015]
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olfactory trong>receptortrong>, family 51, subfamily C, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily M, member 13 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 24 pseudogene
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olfactory trong>receptortrong>, family 7, subfamily E, member 24 pseudogene
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C1D nuclear trong>receptortrong> corepressor pseudogene 2
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dual endotheltrong>introng>-1(VEGFsp)/angiotenstrong>introng> II trong>receptortrong> pseudogene
Enables endotheltrong>introng> trong>receptortrong> activity and vascular endothelial growth factor btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> endotheltrong>introng> trong>receptortrong> signaltrong>introng>g pathway and vascular endothelial growth factor signaltrong>introng>g pathway. Located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong>, family 5, subfamily P, member 4 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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thromboxane A1 trong>receptortrong>
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endotheltrong>introng> trong>receptortrong> type A
This gene encodes the trong>receptortrong> for endotheltrong>introng>-1, a peptide that plays a role trong>introng> potent and long-lasttrong>introng>g vasoconstriction. This trong>receptortrong> associates with guantrong>introng>e-nucleotide-btrong>introng>dtrong>introng>g (G) protetrong>introng>s, and this coupltrong>introng>g activates a phosphatidyltrong>introng>ositol-calcium second messenger system. Polymorphisms trong>introng> this gene have been ltrong>introng>ked to migratrong>introng>e headache resistance. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Oct 2009]
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endotheltrong>introng> trong>receptortrong> type B
The protetrong>introng> encoded by this gene is a G protetrong>introng>-coupled trong>receptortrong> which activates a phosphatidyltrong>introng>ositol-calcium second messenger system. Its ligand, endotheltrong>introng>, consists of a family of three potent vasoactive peptides: ET1, ET2, and ET3. Studies suggest that the multigenic disorder, Hirschsprung disease type 2, is due to mutations trong>introng> the endotheltrong>introng> trong>receptortrong> type B gene. Alternative splictrong>introng>g and the use of alternative promoters results trong>introng> multiple transcript variants. [provided by RefSeq, Oct 2016]
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nuclear trong>receptortrong> subfamily 3, group C, member 1 pseudogene 1
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exporttrong>introng>, tRNA (nuclear export trong>receptortrong> for tRNAs) pseudogene
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opioid growth factor trong>receptortrong> pseudogene
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protetrong>introng> tyrostrong>introng>e phosphatase, trong>receptortrong>-type, Z polypeptide 2
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protetrong>introng> tyrostrong>introng>e phosphatase, trong>receptortrong>-type, Z polypeptide 1
This gene encodes a member of the trong>receptortrong> protetrong>introng> tyrostrong>introng>e phosphatase family. Expression of this gene is restricted to the central nervous system (CNS), and it may be trong>introng>volved trong>introng> the regulation of specific developmental processes trong>introng> the CNS. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been described for this gene. [provided by RefSeq, May 2011]
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olfactory trong>receptortrong>, family 2, subfamily P, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 52, subfamily J, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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thyroid hormone trong>receptortrong> trong>introng>teractor 6
This gene is a member of the zyxtrong>introng> family and encodes a protetrong>introng> with three LIM ztrong>introng>c-btrong>introng>dtrong>introng>g domatrong>introng>s. This protetrong>introng> localizes to focal adhesion sites and along acttrong>introng> stress fibers. Recruitment of this protetrong>introng> to the plasma membrane occurs trong>introng> a lysophosphatidic acid (LPA)-dependent manner and it regulates LPA-trong>introng>duced cell migration. Alternatively spliced variants which encode different protetrong>introng> isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
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BMX non-trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase
This gene encodes a non-trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase belongtrong>introng>g to the Tec ktrong>introng>ase family. The protetrong>introng> contatrong>introng>s a PH-like domatrong>introng>, which mediates membrane targettrong>introng>g by btrong>introng>dtrong>introng>g to phosphatidyltrong>introng>ositol 3,4,5-triphosphate (PIP3), and a SH2 domatrong>introng> that btrong>introng>ds to tyrostrong>introng>e-phosphorylated protetrong>introng>s and functions trong>introng> signal transduction. The protetrong>introng> is implicated trong>introng> several signal transduction pathways trong>introng>cludtrong>introng>g the Stat pathway, and regulates differentiation and tumorigenicity of several types of cancer cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]
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olfactory trong>receptortrong>, family 5, subfamily B, member 17
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily G, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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nuclear trong>receptortrong> btrong>introng>dtrong>introng>g SET domatrong>introng> protetrong>introng> 1
This gene encodes a protetrong>introng> contatrong>introng>trong>introng>g a SET domatrong>introng>, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomatrong>introng> (PHD) ftrong>introng>ger regions, and a proltrong>introng>e-rich region. The encoded protetrong>introng> enhances androgen trong>receptortrong> (AR) transactivation, and this enhancement can be trong>introng>creased further trong>introng> the presence of other androgen trong>receptortrong> associated coregulators. This protetrong>introng> may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpotrong>introng>ts occurrtrong>introng>g withtrong>introng> nuclear trong>receptortrong>-btrong>introng>dtrong>introng>g Su-var, enhancer of zeste, and trithorax domatrong>introng> protetrong>introng> 1 on chromosome 5 and nucleoportrong>introng>, 98-kd on chromosome 11. Multiple transcript variants encodtrong>introng>g disttrong>introng>ct isoforms have been identified for this gene. [provided by RefSeq, Sep 2018]
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olfactory trong>receptortrong>, family 7, subfamily E, member 155 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 6, subfamily X, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily A, member 11 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 6, subfamily C, member 75
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 6, subfamily C, member 74
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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AXL trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase
The protetrong>introng> encoded by this gene is a member of the Tyro3-Axl-Mer (TAM) trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase subfamily. The encoded protetrong>introng> possesses an extracellular domatrong>introng> which is composed of two immunoglobultrong>introng>-like motifs at the N-termtrong>introng>al, followed by two fibronecttrong>introng> type-III motifs. It transduces signals from the extracellular matrix trong>introng>to the cytoplasm by btrong>introng>dtrong>introng>g to the vitamtrong>introng> K-dependent protetrong>introng> growth arrest-specific 6 (Gas6). This gene may be trong>introng>volved trong>introng> several cellular functions trong>introng>cludtrong>introng>g growth, migration, aggregation and anti-trong>introng>flammation trong>introng> multiple cell types. The encoded protetrong>introng> acts as a host cell trong>receptortrong> for multiple viruses, trong>introng>cludtrong>introng>g Marburg, Ebola and Lassa viruses and is a candidate trong>receptortrong> for the SARS-CoV2 virus. [provided by RefSeq, Sep 2021]
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olfactory trong>receptortrong>, family 6, subfamily C, member 7 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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trong>introng>terleuktrong>introng> 13 trong>receptortrong>, alpha 2
The protetrong>introng> encoded by this gene is closely related to Il13RA1, a subutrong>introng>t of the trong>introng>terleuktrong>introng> 13 trong>receptortrong> complex. This protetrong>introng> btrong>introng>ds IL13 with high afftrong>introng>ity, but lacks cytoplasmic domatrong>introng>, and does not appear to function as a signal mediator. It is reported to play a role trong>introng> the trong>introng>ternalization of IL13. [provided by RefSeq, Jul 2008]
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trong>introng>terleuktrong>introng> 13 trong>receptortrong>, alpha 1
The protetrong>introng> encoded by this gene is a subunit of the trong>introng>terleuktrong>introng> 13 trong>receptortrong>. This subunit forms a trong>receptortrong> complex with IL4 trong>receptortrong> alpha, a subunit shared by IL13 and IL4 trong>receptortrong>s. This subunit serves as a primary IL13-btrong>introng>dtrong>introng>g subunit of the IL13 trong>receptortrong>, and may also be a component of IL4 trong>receptortrong>s. This protetrong>introng> has been shown to btrong>introng>d tyrostrong>introng>e ktrong>introng>ase TYK2, and thus may mediate the signaltrong>introng>g processes that lead to the activation of JAK1, STAT3 and STAT6 trong>introng>duced by IL13 and IL4. [provided by RefSeq, Jul 2008]
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sigma non-opioid trong>introng>tracellular trong>receptortrong> 1
This gene encodes a trong>receptortrong> protetrong>introng> that trong>introng>teracts with a variety of psychotomimetic drugs, trong>introng>cludtrong>introng>g cocatrong>introng>e and amphetamtrong>introng>es. The trong>receptortrong> is believed to play an important role trong>introng> the cellular functions of various tissues associated with the endocrtrong>introng>e, immune, and nervous systems. As trong>introng>dicated by its previous name, opioid trong>receptortrong> sigma 1 (OPRS1), the product of this gene was erroneously thought to function as an opioid trong>receptortrong>; it is now thought to be a non-opioid trong>receptortrong>. Mutations trong>introng> this gene has been associated with juvenile amyotrophic lateral sclerosis 16. Alternative splictrong>introng>g of this gene results trong>introng> transcript variants encodtrong>introng>g disttrong>introng>ct isoforms. [provided by RefSeq, Aug 2013]
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olfactory trong>receptortrong>, family 2, subfamily T, member 10
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily T, member 11 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jun 2015]
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olfactory trong>receptortrong>, family 2, subfamily T, member 12
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 84 pseudogene
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olfactory trong>receptortrong>, family 7, subfamily G, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily G, member 3
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily G, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily BQ, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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zona pellucida glycoprotetrong>introng> 1 (sperm trong>receptortrong>)
The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoprotetrong>introng>s with various functions durtrong>introng>g fertilization and preimplantation development. The protetrong>introng> encoded by this gene ensures the structural trong>introng>tegrity of the zona pellucida. Mutations trong>introng> this gene are a cause of oocyte maturation defect and trong>introng>fertility. [provided by RefSeq, May 2014]
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zona pellucida glycoprotetrong>introng> 3 (sperm trong>receptortrong>)
The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoprotetrong>introng>s with various functions durtrong>introng>g fertilization and preimplantation development. The protetrong>introng> encoded by this gene is a structural component of the zona pellucida and functions trong>introng> primary btrong>introng>dtrong>introng>g and trong>introng>duction of the sperm acrosome reaction. The nascent protetrong>introng> contatrong>introng>s a N-termtrong>introng>al signal peptide sequence, a conserved ZP domatrong>introng>, a C-termtrong>introng>al consensus furtrong>introng> cleavage site, and a transmembrane domatrong>introng>. It is hypothesized that furtrong>introng> cleavage results trong>introng> release of the mature protetrong>introng> from the plasma membrane for subsequent trong>introng>corporation trong>introng>to the zona pellucida matrix. However, the requirement for furtrong>introng> cleavage trong>introng> this process rematrong>introng>s controversial based on mouse studies. A variation trong>introng> the last exon of this gene has previously served as the basis for an additional ZP3 locus; however, sequence and literature review reveals that there is only one full-length ZP3 locus trong>introng> the human genome. Another locus encodtrong>introng>g a bipartite transcript designated POMZP3 contatrong>introng>s a duplication of the last four exons of ZP3, trong>introng>cludtrong>introng>g the above described variation, and maps closely to this gene. [provided by RefSeq, Jul 2008]
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zona pellucida glycoprotetrong>introng> 2 (sperm trong>receptortrong>)
The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed of three glycoprotetrong>introng>s with various functions durtrong>introng>g fertilization and preimplantation development. The glycosylated mature peptide is one of the structural components of the zona pellucida and functions trong>introng> secondary btrong>introng>dtrong>introng>g and penetration of acrosome-reacted spermatozoa. Female mice lacktrong>introng>g this gene do not form a stable zona matrix and are sterile. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Feb 2014]
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olfactory trong>receptortrong>, family 9, subfamily Q, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 9, subfamily Q, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily R, member 3 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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low density lipoprotetrong>introng> trong>receptortrong>-related protetrong>introng> 5-like
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olfactory trong>receptortrong>, family 4, subfamily A, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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5-hydroxytryptamtrong>introng>e (serotontrong>introng>) trong>receptortrong> 2A, G protetrong>introng>-coupled
This gene encodes one of the trong>receptortrong>s for serotontrong>introng>, a neurotransmitter with many roles. Mutations trong>introng> this gene are associated with susceptibility to schizophrenia and obsessive-compulsive disorder, and are also associated with response to the antidepressant citalopram trong>introng> patients with major depressive disorder (MDD). MDD patients who also have a mutation trong>introng> trong>introng>tron 2 of this gene show a significantly reduced response to citalopram as this antidepressant downregulates expression of this gene. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
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5-hydroxytryptamtrong>introng>e (serotontrong>introng>) trong>receptortrong> 2C, G protetrong>introng>-coupled
This gene encodes a seven-transmembrane G-protetrong>introng>-coupled trong>receptortrong>. The encoded protetrong>introng> responds to signaltrong>introng>g through the neurotransmitter serotontrong>introng>. The mRNA of this gene is subject to multiple RNA edittrong>introng>g events, where adenostrong>introng>e residues encoded by the genome are converted to trong>introng>ostrong>introng>es. RNA edittrong>introng>g is predicted to alter the structure of the second trong>introng>tracellular loop, thereby generattrong>introng>g alternate protetrong>introng> forms with decreased ability to trong>introng>teract with G protetrong>introng>s. Abnormalities trong>introng> RNA edittrong>introng>g of this gene have been detected trong>introng> victims of suicide that suffer from depression. trong>Introng> addition, naturally-occurtrong>introng>g variation trong>introng> the promoter and 5' non-codtrong>introng>g and codtrong>introng>g regions of this gene may show statistically-significant association with mental illness and behavioral disorders. Alternative splictrong>introng>g results trong>introng> multiple different transcript variants. [provided by RefSeq, Jan 2015]
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5-hydroxytryptamtrong>introng>e (serotontrong>introng>) trong>receptortrong> 2B, G protetrong>introng>-coupled
This gene encodes one of the several different trong>receptortrong>s for 5-hydroxytryptamtrong>introng>e (serotontrong>introng>) that belongs to the G-protetrong>introng> coupled trong>receptortrong> 1 family. Serotontrong>introng> is a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. Serotontrong>introng> trong>receptortrong>s mediate many of the central and peripheral physiologic functions of serotontrong>introng>, trong>introng>cludtrong>introng>g regulation of cardiovascular functions and impulsive behavior. Population and family-based analyses of a mtrong>introng>or allele (glutamtrong>introng>e-to-stop substitution, designated Q20*) which blocks expression of this protetrong>introng>, and knockout studies trong>introng> mice, suggest a role for this gene trong>introng> impulsivity. However, other factors, such as elevated testosterone levels, may also be trong>introng>volved. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]
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purtrong>introng>ergic trong>receptortrong> P2X, ligand gated ion channel, 7
The product of this gene belongs to the family of purtrong>introng>oceptors for ATP. This trong>receptortrong> functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear trong>receptortrong> by ATP trong>introng> the cytoplasm may be a mechanism by which cellular activity can be coupled to changes trong>introng> gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010]
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MET proto-oncogene, trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase
This gene encodes a member of the trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase family of protetrong>introng>s and the product of the proto-oncogene MET. The encoded preproprotetrong>introng> is proteolytically processed to generate alpha and trong>betatrong> subunits that are ltrong>introng>ked via disulfide bonds to form the mature trong>receptortrong>. Further processtrong>introng>g of the trong>betatrong> subunit results trong>introng> the formation of the M10 peptide, which has been shown to reduce lung fibrosis. Btrong>introng>dtrong>introng>g of its ligand, hepatocyte growth factor, trong>introng>duces dimerization and activation of the trong>receptortrong>, which plays a role trong>introng> cellular survival, embryogenesis, and cellular migration and trong>introng>vasion. Mutations trong>introng> this gene are associated with papillary renal cell carctrong>introng>oma, hepatocellular carctrong>introng>oma, and various head and neck cancers. Amplification and overexpression of this gene are also associated with multiple human cancers. [provided by RefSeq, May 2016]
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leukocyte immunoglobultrong>introng>-like trong>receptortrong> pseudogene 1
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leukocyte immunoglobultrong>introng>-like trong>receptortrong> pseudogene 2
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olfactory trong>receptortrong>, family 52, subfamily T, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 8, subfamily R, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily AE, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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gamma-amtrong>introng>obutyric acid (GABA) A trong>receptortrong>, theta
The gamma-amtrong>introng>obutyric acid (GABA) A trong>receptortrong> is a multisubunit chloride channel that mediates the fastest trong>introng>hibitory synaptic transmission trong>introng> the central nervous system. This gene encodes the theta subunit of the GABA A trong>receptortrong>. The gene is mapped to chromosome Xq28 trong>introng> a cluster of genes trong>introng>cludtrong>introng>g those that encode the alpha 3 and epsilon subunits of the GABA A trong>receptortrong>. [provided by RefSeq, Jul 2017]
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gamma-amtrong>introng>obutyric acid (GABA) A trong>receptortrong>, pi
The gamma-amtrong>introng>obutyric acid (GABA) A trong>receptortrong> is a multisubunit chloride channel that mediates the fastest trong>introng>hibitory synaptic transmission trong>introng> the central nervous system. The subunit encoded by this gene is expressed trong>introng> several non-neuronal tissues trong>introng>cludtrong>introng>g the uterus and ovaries. This subunit can assemble with known GABA A trong>receptortrong> subunits, and the presence of this subunit alters the sensitivity of recombtrong>introng>ant trong>receptortrong>s to modulatory agents such as pregnanolone. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, May 2014]
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gamma-amtrong>introng>obutyric acid (GABA) A trong>receptortrong>, epsilon
The product of this gene belongs to the ligand-gated ionic channel (TC 1.A.9) family. It encodes the gamma-amtrong>introng>obutyric acid (GABA) A trong>receptortrong> which is a multisubunit chloride channel that mediates the fastest trong>introng>hibitory synaptic transmission trong>introng> the central nervous system. This gene encodes an epsilon subunit. It is mapped to chromosome Xq28 trong>introng> a cluster comprised of genes encodtrong>introng>g alpha 3, trong>betatrong> 4 and theta subunits of the same trong>receptortrong>. Alternatively spliced transcript variants have been identified, but only one is thought to encode a protetrong>introng>. [provided by RefSeq, Oct 2008]
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gamma-amtrong>introng>obutyric acid (GABA) A trong>receptortrong>, delta
Gamma-amtrong>introng>obutyric acid (GABA) is the major trong>introng>hibitory neurotransmitter trong>introng> the mammalian bratrong>introng> where it acts at GABA-A trong>receptortrong>s, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazeptrong>introng>es that btrong>introng>d to the GABA-A trong>receptortrong>. The GABA-A trong>receptortrong> is generally pentameric and there are five types of subunits: alpha, trong>betatrong>, gamma, delta, and rho. This gene encodes the delta subunit. Mutations trong>introng> this gene have been associated with susceptibility to generalized epilepsy with febrile seizures, type 5. Alternatively spliced transcript variants have been described for this gene, but their biological validity has not been determtrong>introng>ed. [provided by RefSeq, Jul 2008]
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nerve growth factor trong>receptortrong>
Nerve growth factor trong>receptortrong> contatrong>introng>s an extracellular domatrong>introng> contatrong>introng>trong>introng>g four 40-amtrong>introng>o acid repeats with 6 cystetrong>introng>e residues at conserved positions followed by a sertrong>introng>e/threontrong>introng>e-rich region, a strong>introng>gle transmembrane domatrong>introng>, and a 155-amtrong>introng>o acid cytoplasmic domatrong>introng>. The cystetrong>introng>e-rich region contatrong>introng>s the nerve growth factor btrong>introng>dtrong>introng>g domatrong>introng>. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily W, member 1 pseudogene
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D(1B) dopamtrong>introng>e trong>receptortrong>-like
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olfactory trong>receptortrong>, family 3, subfamily A, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 3, subfamily A, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 3, subfamily A, member 3
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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glutamate trong>receptortrong>, ionotropic, AMPA 3
Glutamate trong>receptortrong>s are the predomtrong>introng>ant excitatory neurotransmitter trong>receptortrong>s trong>introng> the mammalian bratrong>introng> and are activated trong>introng> a variety of normal neurophysiologic processes. These trong>receptortrong>s are heteromeric protetrong>introng> complexes composed of multiple subunits, arranged to form ligand-gated ion channels. The classification of glutamate trong>receptortrong>s is based on their activation by different pharmacologic agonists. The subunit encoded by this gene belongs to a family of AMPA (alpha-amtrong>introng>o-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive glutamate trong>receptortrong>s, and is subject to RNA edittrong>introng>g (AGA->GGA; R->G). Alternative splictrong>introng>g at this locus results trong>introng> different isoforms, which may vary trong>introng> their signal transduction properties. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 8, subfamily H, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 8, subfamily H, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 8, subfamily H, member 3
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily H, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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CHRNA7 (choltrong>introng>ergic trong>receptortrong>, nicottrong>introng>ic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion
The nicottrong>introng>ic acetylcholtrong>introng>e trong>receptortrong>s (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The family member CHRNA7, which is located on chromosome 15 trong>introng> a region associated with several neuropsychiatric disorders, is partially duplicated and forms a hybrid with a novel gene from the family with sequence similarity 7 (FAM7A). Alternative splictrong>introng>g has been observed, and two variants exist, for this hybrid gene. The N-termtrong>introng>ally truncated products predicted by the largest open readtrong>introng>g frames for each variant would lack the majority of the neurotransmitter-gated ion-channel ligand btrong>introng>dtrong>introng>g domatrong>introng> but retatrong>introng> the transmembrane region that forms the ion channel. Although current evidence supports transcription of this hybrid gene, translation of the nicottrong>introng>ic acetylcholtrong>introng>e trong>receptortrong>-like protetrong>introng>-encodtrong>introng>g open readtrong>introng>g frames has not been confirmed. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 51, subfamily P, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 77 pseudogene
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vomeronasal 1 trong>receptortrong> 64 pseudogene
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olfactory trong>receptortrong>, family 1, subfamily F, member 12
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 39 pseudogene
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activtrong>introng> A trong>receptortrong>, type IIA
This gene encodes a trong>receptortrong> that mediates the functions of activtrong>introng>s, which are members of the transformtrong>introng>g growth factor-trong>betatrong> (TGF-trong>betatrong>) superfamily trong>introng>volved trong>introng> diverse biological processes. The encoded protetrong>introng> is a transmembrane sertrong>introng>e-threontrong>introng>e ktrong>introng>ase trong>receptortrong> which mediates signaltrong>introng>g by formtrong>introng>g heterodimeric complexes with various combtrong>introng>ations of type I and type II trong>receptortrong>s and ligands trong>introng> a cell-specific manner. The encoded type II trong>receptortrong> is primarily trong>introng>volved trong>introng> ligand-btrong>introng>dtrong>introng>g and trong>introng>cludes an extracellular ligand-btrong>introng>dtrong>introng>g domatrong>introng>, a transmembrane domatrong>introng> and a cytoplasmic sertrong>introng>e-threontrong>introng>e ktrong>introng>ase domatrong>introng>. This gene may be associated with susceptibility to preeclampsia, a pregnancy-related disease which can result trong>introng> maternal and fetal morbidity and mortality. Alternative splictrong>introng>g results trong>introng> multiple transcript variants of this gene. [provided by RefSeq, Jun 2013]
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activtrong>introng> A trong>receptortrong>, type IIB
Activtrong>introng>s are dimeric growth and differentiation factors which belong to the transformtrong>introng>g growth factor-trong>betatrong> (TGF-trong>betatrong>) superfamily of structurally related signaltrong>introng>g protetrong>introng>s. Activtrong>introng>s signal through a heteromeric complex of trong>receptortrong> sertrong>introng>e ktrong>introng>ases which trong>introng>clude at least two type I (I and IB) and two type II (II and IIB) trong>receptortrong>s. These trong>receptortrong>s are all transmembrane protetrong>introng>s, composed of a ligand-btrong>introng>dtrong>introng>g extracellular domatrong>introng> with cystetrong>introng>e-rich region, a transmembrane domatrong>introng>, and a cytoplasmic domatrong>introng> with predicted sertrong>introng>e/threontrong>introng>e specificity. Type I trong>receptortrong>s are essential for signaltrong>introng>g; and type II trong>receptortrong>s are required for btrong>introng>dtrong>introng>g ligands and for expression of type I trong>receptortrong>s. Type I and II trong>receptortrong>s form a stable complex after ligand btrong>introng>dtrong>introng>g, resulttrong>introng>g trong>introng> phosphorylation of type I trong>receptortrong>s by type II trong>receptortrong>s. Type II trong>receptortrong>s are considered to be constitutively active ktrong>introng>ases. This gene encodes activtrong>introng> A type IIB trong>receptortrong>, which displays a 3- to 4-fold higher afftrong>introng>ity for the ligand than activtrong>introng> A type II trong>receptortrong>. [provided by RefSeq, Jul 2008]
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RAR-related orphan trong>receptortrong> C
The protetrong>introng> encoded by this gene is a DNA-btrong>introng>dtrong>introng>g transcription factor and is a member of the NR1 subfamily of nuclear hormone trong>receptortrong>s. The specific functions of this protetrong>introng> are not known; however, studies of a similar gene trong>introng> mice have shown that this gene may be essential for lymphoid organogenesis and may play an important regulatory role trong>introng> thymopoiesis. trong>Introng> addition, studies trong>introng> mice suggest that the protetrong>introng> encoded by this gene may trong>introng>hibit the expression of Fas ligand and IL2. Two transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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RAR-related orphan trong>receptortrong> B
The protetrong>introng> encoded by this gene is a member of the NR1 subfamily of nuclear hormone trong>receptortrong>s. It is a DNA-btrong>introng>dtrong>introng>g protetrong>introng> that can btrong>introng>d as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The encoded protetrong>introng> has been shown to trong>introng>teract with NM23-2, a nucleoside diphosphate ktrong>introng>ase trong>introng>volved trong>introng> organogenesis and differentiation, and to help regulate the expression of some genes trong>introng>volved trong>introng> circadian rhythm. [provided by RefSeq, Feb 2014]
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RAR-related orphan trong>receptortrong> A
The protetrong>introng> encoded by this gene is a member of the NR1 subfamily of nuclear hormone trong>receptortrong>s. It can btrong>introng>d as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The encoded protetrong>introng> has been shown to trong>introng>teract with NM23-2, a nucleoside diphosphate ktrong>introng>ase trong>introng>volved trong>introng> organogenesis and differentiation, as well as with NM23-1, the product of a tumor metastasis suppressor candidate gene. Also, it has been shown to aid trong>introng> the transcriptional regulation of some genes trong>introng>volved trong>introng> circadian rhythm. Four transcript variants encodtrong>introng>g different isoforms have been described for this gene. [provided by RefSeq, Feb 2014]
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fibroblast growth factor trong>receptortrong> substrate 3
This gene encodes a substrate for the fibroblast growth factor trong>receptortrong>. The encoded protetrong>introng> is found trong>introng> the peripheral plasma membrane and ltrong>introng>ks fibroblast growth factor trong>receptortrong> stimulation to activators of Ras. The encoded protetrong>introng> down-regulates extracellular regulated ktrong>introng>ase 2 through direct btrong>introng>dtrong>introng>g. [provided by RefSeq, Jul 2013]
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fibroblast growth factor trong>receptortrong> substrate 2
Enables fibroblast growth factor trong>receptortrong> btrong>introng>dtrong>introng>g activity and neurotrophtrong>introng> TRKA trong>receptortrong> btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> negative regulation of cardiac muscle cell differentiation. Acts upstream of or withtrong>introng> fibroblast growth factor trong>receptortrong> signaltrong>introng>g pathway. Located trong>introng> adherens junction. Biomarker of renal cell carctrong>introng>oma. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong>, family 5, subfamily L, member 1 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jun 2015]
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olfactory trong>receptortrong>, family 5, subfamily L, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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protetrong>introng> tyrostrong>introng>e phosphatase, non-trong>receptortrong> type 3
The protetrong>introng> encoded by this gene is a member of the protetrong>introng> tyrostrong>introng>e phosphatase (PTP) family. PTPs are known to be signaltrong>introng>g molecules that regulate a variety of cellular processes trong>introng>cludtrong>introng>g cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protetrong>introng> contatrong>introng>s a C-termtrong>introng>al PTP domatrong>introng> and an N-termtrong>introng>al domatrong>introng> homologous to the band 4.1 superfamily of cytoskeletal-associated protetrong>introng>s. P97, a cell cycle regulator trong>introng>volved trong>introng> a variety of membrane related functions, has been shown to be a substrate of this PTP. This PTP was also found to trong>introng>teract with, and be regulated by adaptor protetrong>introng> 14-3-3 trong>betatrong>. Several alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
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olfactory trong>receptortrong>, family 9, subfamily L, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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G protetrong>introng>-coupled trong>receptortrong> 50
This gene product belongs to the G-protetrong>introng> coupled trong>receptortrong> 1 family. Even though this protetrong>introng> shares similarity with the melatontrong>introng> trong>receptortrong>s, it does not btrong>introng>d melatontrong>introng>, however, it trong>introng>hibits melatontrong>introng> trong>receptortrong> 1A function through heterodimerization. Polymorphic variants of this gene have been associated with bipolar affective disorder trong>introng> women. [provided by RefSeq, Jan 2010]
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olfactory trong>receptortrong>, family 4, subfamily B, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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hydroxycarboxylic acid trong>receptortrong> 3
Predicted to enable GTP btrong>introng>dtrong>introng>g activity; nicottrong>introng>ic acid trong>receptortrong> activity; and purtrong>introng>ergic nucleotide trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway. Located trong>introng> cell junction. [provided by Alliance of Genome Resources, Mar 2025]
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hydroxycarboxylic acid trong>receptortrong> 2
Predicted to enable nicottrong>introng>ic acid trong>receptortrong> activity. trong>Introng>volved trong>introng> neutrophil apoptotic process and positive regulation of neutrophil apoptotic process. Located trong>introng> cell junction and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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hydroxycarboxylic acid trong>receptortrong> 1
G protetrong>introng>-coupled trong>receptortrong>s (GPCRs, or GPRs), such as GPR81, contatrong>introng> 7 transmembrane domatrong>introng>s and transduce extracellular signals through heterotrimeric G protetrong>introng>s.[supplied by OMIM, Feb 2005]
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leukocyte immunoglobultrong>introng>-like trong>receptortrong> subfamily B member 3
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olfactory trong>receptortrong>, family 4, subfamily K, member 16 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 14, subfamily K, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 1, subfamily B, member 1 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jun 2015]
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lipolysis stimulated lipoprotetrong>introng> trong>receptortrong>
Predicted to be trong>introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g establishment of sktrong>introng> barrier; protetrong>introng> localization to tricellular tight junction; and tricellular tight junction assembly. Predicted to act upstream of or withtrong>introng> matrong>introng>tenance of blood-bratrong>introng> barrier. Located trong>introng> plasma membrane and tight junction. [provided by Alliance of Genome Resources, Mar 2025]
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vomeronasal 2 trong>receptortrong> 20 pseudogene
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vomeronasal 1 trong>receptortrong> 56 pseudogene
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olfactory trong>receptortrong>, family 52, subfamily B, member 5 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 103 pseudogene
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olfactory trong>receptortrong>, family 3, subfamily A, member 5 pseudogene
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platelet-derived growth factor trong>receptortrong>, alpha polypeptide
This gene encodes a cell surface tyrostrong>introng>e ktrong>introng>ase trong>receptortrong> for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origtrong>introng>. The identity of the growth factor bound to a trong>receptortrong> monomer determtrong>introng>es whether the functional trong>receptortrong> is a homodimer or a heterodimer, composed of both platelet-derived growth factor trong>receptortrong> alpha and trong>betatrong> polypeptides. Studies suggest that this gene plays a role trong>introng> organ development, wound healtrong>introng>g, and tumor progression. Mutations trong>introng> this gene have been associated with idiopathic hypereostrong>introng>ophilic syndrome, somatic and familial gastrotrong>introng>testtrong>introng>al stromal tumors, and a variety of other cancers. [provided by RefSeq, Mar 2012]
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platelet-derived growth factor trong>receptortrong>-like
This gene encodes a protetrong>introng> with significant sequence similarity to the ligand btrong>introng>dtrong>introng>g domatrong>introng> of platelet-derived growth factor trong>receptortrong> trong>betatrong>. Mutations trong>introng> this gene, or deletion of a chromosomal segment contatrong>introng>trong>introng>g this gene, are associated with sporadic hepatocellular carctrong>introng>omas, colorectal cancers, and non-small cell lung cancers. This suggests this gene product may function as a tumor suppressor. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 13, subfamily A, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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coagulation factor II (thrombtrong>introng>) trong>receptortrong>
Coagulation factor II trong>receptortrong> is a 7-transmembrane trong>receptortrong> trong>introng>volved trong>introng> the regulation of thrombotic response. Proteolytic cleavage leads to the activation of the trong>receptortrong>. F2R is a G-protetrong>introng> coupled trong>receptortrong> family member. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Aug 2015]
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neurotenstrong>introng> trong>receptortrong> 2
The protetrong>introng> encoded by this gene belongs to the G protetrong>introng>-coupled trong>receptortrong> family that activate a phosphatidyltrong>introng>ositol-calcium second messenger system. Btrong>introng>dtrong>introng>g and pharmacological studies demonstrate that this trong>receptortrong> btrong>introng>ds neurotenstrong>introng> as well as several other ligands already described for neurotenstrong>introng> NT1 trong>receptortrong>. However, unlike NT1 trong>receptortrong>, this gene recognizes, with high afftrong>introng>ity, levocabasttrong>introng>e, a histamtrong>introng>e H1 trong>receptortrong> antagonist previously shown to compete with neurotenstrong>introng> for low-afftrong>introng>ity btrong>introng>dtrong>introng>g sites trong>introng> bratrong>introng>. These activities suggest that this trong>receptortrong> may be of physiological importance and that a natural agonist for the trong>receptortrong> may exist. [provided by RefSeq, Jul 2008]
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neurotenstrong>introng> trong>receptortrong> 1 (high afftrong>introng>ity)
Neurotenstrong>introng> trong>receptortrong> 1 belongs to the large superfamily of G-protetrong>introng> coupled trong>receptortrong>s. NTSR1 mediates the multiple functions of neurotenstrong>introng>, such as hypotension, hyperglycemia, hypothermia, anttrong>introng>ociception, and regulation of trong>introng>testtrong>introng>al motility and secretion. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 11, subfamily J, member 6 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily D, member 10
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily D, member 11
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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hepatitis A virus cellular trong>receptortrong> 1 pseudogene 2
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trong>introng>terleuktrong>introng> 1 trong>receptortrong> accessory protetrong>introng>
This gene encodes a component of the trong>introng>terleuktrong>introng> 1 trong>receptortrong> complex, which trong>introng>itiates signalltrong>introng>g events that result trong>introng> the activation of trong>introng>terleuktrong>introng> 1-responsive genes. Alternative splictrong>introng>g of this gene results trong>introng> membrane-bound and soluble isoforms differtrong>introng>g trong>introng> their C-termtrong>introng>us. The ratio of soluble to membrane-bound forms trong>introng>creases durtrong>introng>g acute-phase trong>introng>duction or stress. [provided by RefSeq, Jul 2018]
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vomeronasal 2 trong>receptortrong> 6 pseudogene
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olfactory trong>receptortrong>, family 55, subfamily B, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily C, member 48 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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triggertrong>introng>g trong>receptortrong> expressed on myeloid cells-like 5, pseudogene
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frizzled class trong>receptortrong> 1
Members of the 'frizzled' gene family encode 7-transmembrane domatrong>introng> protetrong>introng>s that are trong>receptortrong>s for Wnt signaltrong>introng>g protetrong>introng>s. The FZD1 protetrong>introng> contatrong>introng>s a signal peptide, a cystetrong>introng>e-rich domatrong>introng> trong>introng> the N-termtrong>introng>al extracellular region, 7 transmembrane domatrong>introng>s, and a C-termtrong>introng>al PDZ domatrong>introng>-btrong>introng>dtrong>introng>g motif. The FZD1 transcript is expressed trong>introng> various tissues. [provided by RefSeq, Jul 2008]
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frizzled class trong>receptortrong> 2
This trong>introng>tronless gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domatrong>introng> protetrong>introng>s that are trong>receptortrong>s for the wtrong>introng>gless type MMTV trong>introng>tegration site family of signaltrong>introng>g protetrong>introng>s. This gene encodes a protetrong>introng> that is coupled to the trong>betatrong>-catentrong>introng> canonical signaltrong>introng>g pathway. Competition between the wtrong>introng>gless-type MMTV trong>introng>tegration site family, member 3A and wtrong>introng>gless-type MMTV trong>introng>tegration site family, member 5A gene products for btrong>introng>dtrong>introng>g of this protetrong>introng> is thought to regulate the trong>betatrong>-catentrong>introng>-dependent and -trong>introng>dependent pathways. [provided by RefSeq, Dec 2010]
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frizzled class trong>receptortrong> 3
This gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domatrong>introng> protetrong>introng>s that are trong>receptortrong>s for the wtrong>introng>gless type MMTV trong>introng>tegration site family of signaltrong>introng>g protetrong>introng>s. Most frizzled trong>receptortrong>s are coupled to the trong>betatrong>-catentrong>introng> canonical signaltrong>introng>g pathway. The function of this protetrong>introng> is unknown, although it may play a role trong>introng> mammalian hair follicle development. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. This gene is a susceptibility locus for schizophrenia. [provided by RefSeq, Dec 2010]
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frizzled class trong>receptortrong> 4
This gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domatrong>introng> protetrong>introng>s that are trong>receptortrong>s for the Wtrong>introng>gless type MMTV trong>introng>tegration site family of signaltrong>introng>g protetrong>introng>s. Most frizzled trong>receptortrong>s are coupled to the trong>betatrong>-catentrong>introng> canonical signaltrong>introng>g pathway. This protetrong>introng> may play a role as a positive regulator of the Wtrong>introng>gless type MMTV trong>introng>tegration site signaltrong>introng>g pathway. A transcript variant retatrong>introng>trong>introng>g trong>introng>tronic sequence and encodtrong>introng>g a shorter isoform has been described, however, its expression is not supported by other experimental evidence. [provided by RefSeq, Jul 2008]
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frizzled class trong>receptortrong> 5
Members of the 'frizzled' gene family encode 7-transmembrane domatrong>introng> protetrong>introng>s that are trong>receptortrong>s for Wnt signaltrong>introng>g protetrong>introng>s. The FZD5 protetrong>introng> is believed to be the trong>receptortrong> for the Wnt5A ligand. [provided by RefSeq, Jul 2008]
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frizzled class trong>receptortrong> 6
This gene represents a member of the 'frizzled' gene family, which encode 7-transmembrane domatrong>introng> protetrong>introng>s that are trong>receptortrong>s for Wnt signaltrong>introng>g protetrong>introng>s. The protetrong>introng> encoded by this family member contatrong>introng>s a signal peptide, a cystetrong>introng>e-rich domatrong>introng> trong>introng> the N-termtrong>introng>al extracellular region, and seven transmembrane domatrong>introng>s, but unlike other family members, this protetrong>introng> does not contatrong>introng> a C-termtrong>introng>al PDZ domatrong>introng>-btrong>introng>dtrong>introng>g motif. This protetrong>introng> functions as a negative regulator of the canonical Wnt/trong>betatrong>-catentrong>introng> signaltrong>introng>g cascade, thereby trong>introng>hibittrong>introng>g the processes that trigger oncogenic transformation, cell proliferation, and trong>introng>hibition of apoptosis. Alternative splictrong>introng>g results trong>introng> multiple transcript variants, some of which do not encode a protetrong>introng> with a predicted signal peptide.[provided by RefSeq, Aug 2011]
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frizzled class trong>receptortrong> 7
Members of the 'frizzled' gene family encode 7-transmembrane domatrong>introng> protetrong>introng>s that are trong>receptortrong>s for Wnt signaltrong>introng>g protetrong>introng>s. The FZD7 protetrong>introng> contatrong>introng>s an N-termtrong>introng>al signal sequence, 10 cystetrong>introng>e residues typical of the cystetrong>introng>e-rich extracellular domatrong>introng> of Fz family members, 7 putative transmembrane domatrong>introng>s, and an trong>introng>tracellular C-termtrong>introng>al tail with a PDZ domatrong>introng>-btrong>introng>dtrong>introng>g motif. FZD7 gene expression may downregulate APC function and enhance trong>betatrong>-catentrong>introng>-mediated signals trong>introng> poorly differentiated human esophageal carctrong>introng>omas. [provided by RefSeq, Jul 2008]
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frizzled class trong>receptortrong> 8
This trong>introng>tronless gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domatrong>introng> protetrong>introng>s that are trong>receptortrong>s for the Wtrong>introng>gless type MMTV trong>introng>tegration site family of signaltrong>introng>g protetrong>introng>s. Most frizzled trong>receptortrong>s are coupled to the trong>betatrong>-catentrong>introng> canonical signaltrong>introng>g pathway. This gene is highly expressed trong>introng> two human cancer cell ltrong>introng>es, trong>introng>dicattrong>introng>g that it may play a role trong>introng> several types of cancer. The crystal structure of the extracellular cystetrong>introng>e-rich domatrong>introng> of a similar mouse protetrong>introng> has been determtrong>introng>ed. [provided by RefSeq, Jul 2008]
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frizzled class trong>receptortrong> 9
Members of the 'frizzled' gene family encode 7-transmembrane domatrong>introng> protetrong>introng>s that are trong>receptortrong>s for Wnt signaltrong>introng>g protetrong>introng>s. The FZD9 gene is located withtrong>introng> the Williams syndrome common deletion region of chromosome 7, and heterozygous deletion of the FZD9 gene may contribute to the Williams syndrome phenotype. FZD9 is expressed predomtrong>introng>antly trong>introng> bratrong>introng>, testis, eye, skeletal muscle, and kidney. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily W, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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autocrtrong>introng>e motility factor trong>receptortrong>, E3 ubiquittrong>introng> protetrong>introng> ligase
This locus encodes a glycosylated transmembrane trong>receptortrong>. Its ligand, autocrtrong>introng>e motility factor, is a tumor motility-stimulattrong>introng>g protetrong>introng> secreted by tumor cells. The encoded trong>receptortrong> is also a member of the E3 ubiquittrong>introng> ligase family of protetrong>introng>s. It catalyzes ubiquittrong>introng>ation and endoplasmic reticulum-associated degradation of specific protetrong>introng>s. [provided by RefSeq, Feb 2012]
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protetrong>introng> tyrostrong>introng>e phosphatase, non-trong>receptortrong> type 4 (megakaryocyte) pseudogene
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olfactory trong>receptortrong>, family 7, subfamily E, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 9, subfamily I, member 3 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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colony stimulattrong>introng>g factor 3 trong>receptortrong> (granulocyte)
The protetrong>introng> encoded by this gene is the trong>receptortrong> for colony stimulattrong>introng>g factor 3, a cytoktrong>introng>e that controls the production, differentiation, and function of granulocytes. The encoded protetrong>introng>, which is a member of the family of cytoktrong>introng>e trong>receptortrong>s, may also function trong>introng> some cell surface adhesion or recognition processes. Alternatively spliced transcript variants have been described. Mutations trong>introng> this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia. [provided by RefSeq, Aug 2010]
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neuropeptide Y trong>receptortrong> type 4
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prostaglandtrong>introng> D2 trong>receptortrong> (DP)
This gene encodes a member of the guantrong>introng>e nucleotide-btrong>introng>dtrong>introng>g protetrong>introng> (G protetrong>introng>)-coupled trong>receptortrong> (GPCR) superfamily. The trong>receptortrong>s are seven-pass transmembrane protetrong>introng>s that respond to extracellular cues and activate trong>introng>tracellular signal transduction pathways. This protetrong>introng> is reported to be a trong>receptortrong> for prostaglandtrong>introng> D2, which is a mediator of allergic trong>introng>flammation and allergic airway trong>introng>flammation trong>introng> asthma. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jul 2013]
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olfactory trong>receptortrong> 11G2-like
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vomeronasal 1 trong>receptortrong> 15 pseudogene
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olfactory trong>receptortrong>, family 7, subfamily G, member 15 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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chemoktrong>introng>e (C-X-C motif) trong>receptortrong> 2 pseudogene 1
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seven transmembrane helix trong>receptortrong>
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GABA(A) trong>receptortrong>-associated protetrong>introng>-like 2 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily Q, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily AD, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong> 4S2-like
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olfactory trong>receptortrong>, family 10, subfamily V, member 3 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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platelet endothelial aggregation trong>receptortrong> 1-like
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vomeronasal 1 trong>receptortrong> 51 pseudogene
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melanocorttrong>introng> 5 trong>receptortrong>
This gene encodes a member of the seven-pass transmembrane G protetrong>introng>-coupled melanocorttrong>introng> trong>receptortrong> protetrong>introng> family that stimulate cAMP signal transduction. The encoded protetrong>introng> is a trong>receptortrong> for melanocyte-stimulattrong>introng>g hormone and adrenocorticotropic hormone and is suggested to play a role trong>introng> sebum generation. [provided by RefSeq, Jun 2010]
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lysophosphatidic acid trong>receptortrong> 2
This gene encodes a member of family I of the G protetrong>introng>-coupled trong>receptortrong>s, as well as the EDG family of protetrong>introng>s. This protetrong>introng> functions as a lysophosphatidic acid (LPA) trong>receptortrong> and contributes to Ca2+ mobilization, a critical cellular response to LPA trong>introng> cells, through association with Gi and Gq protetrong>introng>s. An alternative splice variant has been described but its full length sequence has not been determtrong>introng>ed. [provided by RefSeq, Jul 2008]
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lysophosphatidic acid trong>receptortrong> 3
This gene encodes a member of the G protetrong>introng>-coupled trong>receptortrong> family, as well as the EDG family of protetrong>introng>s. This protetrong>introng> functions as a cellular trong>receptortrong> for lysophosphatidic acid and mediates lysophosphatidic acid-evoked calcium mobilization. This trong>receptortrong> couples predomtrong>introng>antly to G(q/11) alpha protetrong>introng>s. [provided by RefSeq, Jul 2008]
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lysophosphatidic acid trong>receptortrong> 6
The protetrong>introng> encoded by this gene belongs to the family of G-protetrong>introng> coupled trong>receptortrong>s, that are preferentially activated by adenostrong>introng>e and uridtrong>introng>e nucleotides. This gene aligns with an trong>introng>ternal trong>introng>tron of the rettrong>introng>oblastoma susceptibility gene trong>introng> the reverse orientation. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jun 2009]
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lysophosphatidic acid trong>receptortrong> 4
This gene encodes a member of the lysophosphatidic acid trong>receptortrong> family. It may also be related to the P2Y trong>receptortrong>s, a family of trong>receptortrong>s that btrong>introng>d purtrong>introng>e and pyrimidtrong>introng>e nucleotides and are coupled to G protetrong>introng>s. The encoded protetrong>introng> may play a role trong>introng> monocytic differentiation. [provided by RefSeq, Feb 2009]
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lysophosphatidic acid trong>receptortrong> 5
This gene encodes a member of the rhodopstrong>introng> class of G protetrong>introng>-coupled transmembrane trong>receptortrong>s. This protetrong>introng> transmits extracellular signals from lysophosphatidic acid to cells through heterotrimeric G protetrong>introng>s and mediates numerous cellular processes. Many G protetrong>introng> trong>receptortrong>s serve as targets for pharmaceutical drugs. Transcript variants of this gene have been described.[provided by RefSeq, Dec 2008]
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atypical chemoktrong>introng>e trong>receptortrong> 4
The protetrong>introng> encoded by this gene is a member of the G protetrong>introng>-coupled trong>receptortrong> family, and is a trong>receptortrong> for C-C type chemoktrong>introng>es. This trong>receptortrong> has been shown to btrong>introng>d dendritic cell- and T cell-activated chemoktrong>introng>es trong>introng>cludtrong>introng>g CCL19/ELC, CCL21/SLC, and CCL25/TECK. A pseudogene of this gene is found on chromosome 6. Alternatively spliced transcript variants encodtrong>introng>g the same protetrong>introng> have been described. [provided by RefSeq, Jul 2013]
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olfactory trong>receptortrong>, family 51, subfamily I, member 1 pseudogene
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olfactory trong>receptortrong>, family 51, subfamily B, member 4 pseudogene
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atypical chemoktrong>introng>e trong>receptortrong> 1 (Duffy blood group)
The protetrong>introng> encoded by this gene is a glycosylated membrane protetrong>introng> and a non-specific trong>receptortrong> for several chemoktrong>introng>es. The encoded protetrong>introng> is the trong>receptortrong> for the human malarial parasites Plasmodium vivax and Plasmodium knowlesi. Polymorphisms trong>introng> this gene are the basis of the Duffy blood group system. Two transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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atypical chemoktrong>introng>e trong>receptortrong> 2
This gene encodes a trong>betatrong> chemoktrong>introng>e trong>receptortrong>, which is predicted to be a seven transmembrane protetrong>introng> similar to G protetrong>introng>-coupled trong>receptortrong>s. Chemoktrong>introng>es and their trong>receptortrong>-mediated signal transduction are critical for the recruitment of effector immune cells to the trong>introng>flammation site. This gene is expressed trong>introng> a range of tissues and hemopoietic cells. The expression of this trong>receptortrong> trong>introng> lymphatic endothelial cells and overexpression trong>introng> vascular tumors suggested its function trong>introng> chemoktrong>introng>e-driven recirculation of leukocytes and possible chemoktrong>introng>e effects on the development and growth of vascular tumors. This trong>receptortrong> appears to btrong>introng>d the majority of trong>betatrong>-chemoktrong>introng>e family members; however, its specific function rematrong>introng>s unknown. This gene is mapped to chromosome 3p21.3, a region that trong>introng>cludes a cluster of chemoktrong>introng>e trong>receptortrong> genes. [provided by RefSeq, Jul 2008]
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atypical chemoktrong>introng>e trong>receptortrong> 3
This gene encodes a member of the G-protetrong>introng> coupled trong>receptortrong> family. Although this protetrong>introng> was earlier thought to be a trong>receptortrong> for vasoactive trong>introng>testtrong>introng>al peptide (VIP), it is now considered to be an orphan trong>receptortrong>, trong>introng> that its endogenous ligand has not been identified. The protetrong>introng> is also a cotrong>receptortrong> for human immunodeficiency viruses (HIV). Translocations trong>introng>volvtrong>introng>g this gene and HMGA2 on chromosome 12 have been observed trong>introng> lipomas. [provided by RefSeq, Jul 2008]
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G protetrong>introng>-coupled estrogen trong>receptortrong> 1
This gene encodes a multi-pass membrane protetrong>introng> that localizes to the endoplasmic reticulum and a member of the G-protetrong>introng> coupled trong>receptortrong> 1 family. This trong>receptortrong> btrong>introng>ds estrogen and activates multiple downstream signaltrong>introng>g pathways, leadtrong>introng>g to stimulation of adenylate cyclase and an trong>introng>crease trong>introng> cyclic AMP levels, while also promottrong>introng>g trong>introng>tracellular calcium mobilization and synthesis of phosphatidyltrong>introng>ositol 3,4,5-trisphosphate trong>introng> the nucleus. This protetrong>introng> therefore plays a role trong>introng> the rapid nongenomic signaltrong>introng>g events widely observed followtrong>introng>g stimulation of cells and tissues with estrogen. This trong>receptortrong> has been shown to play a role trong>introng> diverse biological processes, trong>introng>cludtrong>introng>g bone and nervous system development, metabolism, cognition, male fertility and utertrong>introng>e function. [provided by RefSeq, Aug 2017]
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olfactory trong>receptortrong>, family 10, subfamily N, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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complement component 5a trong>receptortrong> 2
This gene encodes a G-protetrong>introng> coupled trong>receptortrong> 1 family member trong>introng>volved trong>introng> the complement system of the trong>introng>nate immune response. Unlike classical G-protetrong>introng> coupled trong>receptortrong>s, the encoded protetrong>introng> does not associate with trong>introng>tracellular G-protetrong>introng>s. It may trong>introng>stead modulate signal transduction through the trong>betatrong>-arresttrong>introng> pathway, and may alternatively act as a decoy trong>receptortrong>. This gene may be trong>introng>volved trong>introng> coronary artery disease and trong>introng> the pathogenesis of sepsis. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Nov 2012]
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complement component 5a trong>receptortrong> 1
Enables G protetrong>introng>-coupled trong>receptortrong> activity and complement component C5a trong>receptortrong> activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g complement component C5a signaltrong>introng>g pathway; mRNA transcription by RNA polymerase II; and positive regulation of ERK1 and ERK2 cascade. Located trong>introng> apical part of cell and basolateral plasma membrane. Biomarker of Alzheimer's disease; asthma; chronic obstructive pulmonary disease; rhtrong>introng>itis; and severe acute respiratory syndrome. [provided by Alliance of Genome Resources, Mar 2025]
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rettrong>introng>al G protetrong>introng> coupled trong>receptortrong>
This gene encodes a putative rettrong>introng>al G-protetrong>introng> coupled trong>receptortrong>. The gene is a member of the opstrong>introng> subfamily of the 7 transmembrane, G-protetrong>introng> coupled trong>receptortrong> 1 family. Like other opstrong>introng>s which btrong>introng>d rettrong>introng>aldehyde, it contatrong>introng>s a conserved lystrong>introng>e residue trong>introng> the seventh transmembrane domatrong>introng>. The protetrong>introng> acts as a photoisomerase to catalyze the conversion of all-trans-rettrong>introng>al to 11-cis-rettrong>introng>al. The reverse isomerization occurs with rhodopstrong>introng> trong>introng> rettrong>introng>al phototrong>receptortrong> cells. The protetrong>introng> is exclusively expressed trong>introng> tissue adjacent to rettrong>introng>al phototrong>receptortrong> cells, the rettrong>introng>al pigment epithelium and Mueller cells. This gene may be associated with autosomal recessive and autosomal domtrong>introng>ant rettrong>introng>itis pigmentosa (arRP and adRP, respectively). Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g different isoforms. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 31 pseudogene
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olfactory trong>receptortrong>, family 51, subfamily F, member 1 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jun 2015]
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olfactory trong>receptortrong>, family 51, subfamily F, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 154 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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signal sequence trong>receptortrong>, delta pseudogene 1
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nuclear trong>receptortrong> btrong>introng>dtrong>introng>g protetrong>introng> 2
Predicted to enable protetrong>introng> sertrong>introng>e/threontrong>introng>e ktrong>introng>ase activity. trong>Introng>volved trong>introng> negative regulation of macroautophagy. Predicted to be active trong>introng> cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]
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nuclear trong>receptortrong> btrong>introng>dtrong>introng>g protetrong>introng> 1
Predicted to enable protetrong>introng> homodimerization activity and protetrong>introng> sertrong>introng>e/threontrong>introng>e ktrong>introng>ase activity. trong>Introng>volved trong>introng> endoplasmic reticulum to Golgi vesicle-mediated transport. Located trong>introng> endomembrane system. [provided by Alliance of Genome Resources, Mar 2025]
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progesttrong>introng> and adipoQ trong>receptortrong> family member VIII
Predicted to enable nuclear steroid trong>receptortrong> activity and steroid btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> response to steroid hormone. Located trong>introng> Golgi apparatus and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong>, family 13, subfamily E, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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progesttrong>introng> and adipoQ trong>receptortrong> family member III
This gene encodes a seven-transmembrane protetrong>introng> localized trong>introng> the Golgi apparatus trong>introng> mammalian cells. The encoded protetrong>introng> belongs to the progesttrong>introng> and adipoQ trong>receptortrong> (PAQR) family. This protetrong>introng> functions as a tumor suppressor by trong>introng>hibittrong>introng>g the Raf/MEK/ERK signaltrong>introng>g cascade. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Apr 2017]
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progesttrong>introng> and adipoQ trong>receptortrong> family member V
Predicted to enable signaltrong>introng>g trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> oogenesis. Predicted to be located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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progesttrong>introng> and adipoQ trong>receptortrong> family member IV
Enables molecular adaptor activity. trong>Introng>volved trong>introng> protetrong>introng> stabilization and regulation of ceramide biosynthetic process. Located trong>introng> Golgi membrane. [provided by Alliance of Genome Resources, Mar 2025]
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progesttrong>introng> and adipoQ trong>receptortrong> family member VII
Predicted to enable nuclear steroid trong>receptortrong> activity and steroid btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> response to steroid hormone. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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progesttrong>introng> and adipoQ trong>receptortrong> family member VI
Predicted to enable signaltrong>introng>g trong>receptortrong> activity. Predicted to be located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong>, family 7, subfamily E, member 24 pseudogene
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adhesion G protetrong>introng>-coupled trong>receptortrong> F1
Predicted to enable G protetrong>introng>-coupled trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g energy reserve metabolic process; fat cell differentiation; and nervous system development. Predicted to act upstream of or withtrong>introng> memory and positive regulation of CREB transcription factor activity. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> cytoplasmic vesicle and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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adhesion G protetrong>introng>-coupled trong>receptortrong> F2
Predicted to enable G protetrong>introng>-coupled trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> adenylate cyclase-activattrong>introng>g G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway. Predicted to be located trong>introng> membrane. [provided by Alliance of Genome Resources, Mar 2025]
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adhesion G protetrong>introng>-coupled trong>receptortrong> F3
Predicted to enable G protetrong>introng>-coupled trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> adenylate cyclase-activattrong>introng>g G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway. Predicted to be located trong>introng> membrane. [provided by Alliance of Genome Resources, Mar 2025]
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adhesion G protetrong>introng>-coupled trong>receptortrong> F4
Sequence analysis of this gene suggests that it is encodes a member of the superfamily of G protetrong>introng>-couple trong>receptortrong>s. G protetrong>introng>-coupled trong>receptortrong>s typically contatrong>introng> seven hydrophobic transmembrane domatrong>introng>s, trong>introng>teract with guantrong>introng>e nucleotide btrong>introng>dtrong>introng>g regulatory protetrong>introng>s, and detect molecules outside the cell and act to transduce these signals trong>introng>to trong>introng>tracellular responses. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Dec 2016]
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adhesion G protetrong>introng>-coupled trong>receptortrong> F5
Predicted to enable G protetrong>introng>-coupled trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g adenylate cyclase-activattrong>introng>g G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway; energy reserve metabolic process; and fat cell differentiation. Predicted to act upstream of or withtrong>introng> several processes, trong>introng>cludtrong>introng>g glomerular filtration; negative regulation of macrophage activation; and pharyngeal arch artery morphogenesis. Located trong>introng> cell surface and cytoplasmic vesicle. [provided by Alliance of Genome Resources, Mar 2025]
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nuclear trong>receptortrong> subfamily 2, group E, member 1
The protetrong>introng> encoded by this gene is an orphan trong>receptortrong> trong>introng>volved trong>introng> rettrong>introng>al development. The encoded protetrong>introng> also regulates adult neural stem cell proliferation and may be trong>introng>volved trong>introng> control of aggressive behavior. Two transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
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nuclear trong>receptortrong> subfamily 2, group E, member 3
This protetrong>introng> is part of a large family of nuclear trong>receptortrong> transcription factors trong>introng>volved trong>introng> signaltrong>introng>g pathways. Nuclear trong>receptortrong>s have been shown to regulate pathways trong>introng>volved trong>introng> embryonic development, as well as trong>introng> matrong>introng>tenance of proper cell function trong>introng> adults. Members of this family are characterized by discrete domatrong>introng>s that function trong>introng> DNA and ligand btrong>introng>dtrong>introng>g. This gene encodes a rettrong>introng>al nuclear trong>receptortrong> that is a ligand-dependent transcription factor. Defects trong>introng> this gene are a cause of enhanced S cone syndrome. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been identified. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily A, member 20 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily C, member 7 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily V, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily AP, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily M, member 6 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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G protetrong>introng>-coupled trong>receptortrong> 45
This trong>introng>tronless gene encodes a member of the G protetrong>introng>-coupled trong>receptortrong> (GPCR) family. Members of this protetrong>introng> family contatrong>introng> seven putative transmembrane domatrong>introng>s and may mediate signaltrong>introng>g processes to the trong>introng>terior of the cell via activation of heterotrimeric G protetrong>introng>s. This protetrong>introng> may function trong>introng> the central nervous system. [provided by RefSeq, Jul 2008]
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G protetrong>introng>-coupled trong>receptortrong> 42 (gene/pseudogene)
Predicted to enable G protetrong>introng>-coupled trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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growth hormone trong>receptortrong>
This gene encodes a member of the type I cytoktrong>introng>e trong>receptortrong> family, which is a transmembrane trong>receptortrong> for growth hormone. Btrong>introng>dtrong>introng>g of growth hormone to the trong>receptortrong> leads to trong>receptortrong> dimerization and the activation of an trong>introng>tra- and trong>introng>tercellular signal transduction pathway leadtrong>introng>g to growth. Mutations trong>introng> this gene have been associated with Laron syndrome, also known as the growth hormone trong>introng>sensitivity syndrome (GHIS), a disorder characterized by short stature. trong>Introng> humans and rabbits, but not rodents, growth hormone btrong>introng>dtrong>introng>g protetrong>introng> (GHBP) is generated by proteolytic cleavage of the extracellular ligand-btrong>introng>dtrong>introng>g domatrong>introng> from the mature growth hormone trong>receptortrong> protetrong>introng>. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011]
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protetrong>introng> tyrostrong>introng>e phosphatase, non-trong>receptortrong> type 2 pseudogene 2
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zona pellucida glycoprotetrong>introng> 3 (sperm trong>receptortrong>) pseudogene
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olfactory trong>receptortrong>, family 1, subfamily J, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 1, subfamily J, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily S, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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choltrong>introng>ergic trong>receptortrong>, muscartrong>introng>ic 5
The muscartrong>introng>ic choltrong>introng>ergic trong>receptortrong>s belong to a larger family of G protetrong>introng>-coupled trong>receptortrong>s. The functional diversity of these trong>receptortrong>s is deftrong>introng>ed by the btrong>introng>dtrong>introng>g of acetylcholtrong>introng>e and trong>introng>cludes cellular responses such as adenylate cyclase trong>introng>hibition, phosphotrong>introng>ositide degeneration, and potassium channel mediation. Muscartrong>introng>ic trong>receptortrong>s trong>introng>fluence many effects of acetylcholtrong>introng>e trong>introng> the central and peripheral nervous system. The cltrong>introng>ical implications of this trong>receptortrong> are unknown; however, stimulation of this trong>receptortrong> is known to trong>introng>crease cyclic AMP levels. [provided by RefSeq, Jul 2008]
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choltrong>introng>ergic trong>receptortrong>, muscartrong>introng>ic 4
The muscartrong>introng>ic choltrong>introng>ergic trong>receptortrong>s belong to a larger family of G protetrong>introng>-coupled trong>receptortrong>s. The functional diversity of these trong>receptortrong>s is deftrong>introng>ed by the btrong>introng>dtrong>introng>g of acetylcholtrong>introng>e and trong>introng>cludes cellular responses such as adenylate cyclase trong>introng>hibition, phosphotrong>introng>ositide degeneration, and potassium channel mediation. Muscartrong>introng>ic trong>receptortrong>s trong>introng>fluence many effects of acetylcholtrong>introng>e trong>introng> the central and peripheral nervous system. The cltrong>introng>ical implications of this trong>receptortrong> are unknown; however, mouse studies ltrong>introng>k its function to adenylyl cyclase trong>introng>hibition. [provided by RefSeq, Jul 2008]
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choltrong>introng>ergic trong>receptortrong>, muscartrong>introng>ic 3
The muscartrong>introng>ic choltrong>introng>ergic trong>receptortrong>s belong to a larger family of G protetrong>introng>-coupled trong>receptortrong>s. The functional diversity of these trong>receptortrong>s is deftrong>introng>ed by the btrong>introng>dtrong>introng>g of acetylcholtrong>introng>e and trong>introng>cludes cellular responses such as adenylate cyclase trong>introng>hibition, phosphotrong>introng>ositide degeneration, and potassium channel mediation. Muscartrong>introng>ic trong>receptortrong>s trong>introng>fluence many effects of acetylcholtrong>introng>e trong>introng> the central and peripheral nervous system. The muscartrong>introng>ic choltrong>introng>ergic trong>receptortrong> 3 controls smooth muscle contraction and its stimulation causes secretion of glandular tissue. Alternative promoter use and alternative splictrong>introng>g results trong>introng> multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]
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choltrong>introng>ergic trong>receptortrong>, muscartrong>introng>ic 2
The muscartrong>introng>ic choltrong>introng>ergic trong>receptortrong>s belong to a larger family of G protetrong>introng>-coupled trong>receptortrong>s. The functional diversity of these trong>receptortrong>s is deftrong>introng>ed by the btrong>introng>dtrong>introng>g of acetylcholtrong>introng>e to these trong>receptortrong>s and trong>introng>cludes cellular responses such as adenylate cyclase trong>introng>hibition, phosphotrong>introng>ositide degeneration, and potassium channel mediation. Muscartrong>introng>ic trong>receptortrong>s trong>introng>fluence many effects of acetylcholtrong>introng>e trong>introng> the central and peripheral nervous system. The muscartrong>introng>ic choltrong>introng>ergic trong>receptortrong> 2 is trong>introng>volved trong>introng> mediation of bradycardia and a decrease trong>introng> cardiac contractility. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]
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choltrong>introng>ergic trong>receptortrong>, muscartrong>introng>ic 1
The muscartrong>introng>ic choltrong>introng>ergic trong>receptortrong>s belong to a larger family of G protetrong>introng>-coupled trong>receptortrong>s. The functional diversity of these trong>receptortrong>s is deftrong>introng>ed by the btrong>introng>dtrong>introng>g of acetylcholtrong>introng>e and trong>introng>cludes cellular responses such as adenylate cyclase trong>introng>hibition, phosphotrong>introng>ositide degeneration, and potassium channel mediation. Muscartrong>introng>ic trong>receptortrong>s trong>introng>fluence many effects of acetylcholtrong>introng>e trong>introng> the central and peripheral nervous system. The muscartrong>introng>ic choltrong>introng>ergic trong>receptortrong> 1 is trong>introng>volved trong>introng> mediation of vagally-trong>introng>duced bronchoconstriction and trong>introng> the acid secretion of the gastrotrong>introng>testtrong>introng>al tract. The gene encodtrong>introng>g this trong>receptortrong> is localized to 11q13. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily D, member 5 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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low density lipoprotetrong>introng> trong>receptortrong> class A domatrong>introng> contatrong>introng>trong>introng>g 4
Enables R-SMAD btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> negative regulation of cell migration; negative regulation of epithelial to mesenchymal transition; and negative regulation of transmembrane trong>receptortrong> protetrong>introng> sertrong>introng>e/threontrong>introng>e ktrong>introng>ase signaltrong>introng>g pathway. Located trong>introng> early endosome membrane. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong>, family 5, subfamily P, member 3 pseudogene
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olfactory trong>receptortrong>, family 8, subfamily G, member 3 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily AP, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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trong>introng>terleuktrong>introng> 36 trong>receptortrong> antagonist
The protetrong>introng> encoded by this gene is a member of the trong>introng>terleuktrong>introng> 1 cytoktrong>introng>e family. This cytoktrong>introng>e was shown to specifically trong>introng>hibit the activation of NF-kappaB trong>introng>duced by trong>introng>terleuktrong>introng> 1 family, member 6 (IL1F6). This gene and eight other trong>introng>terleuktrong>introng> 1 family genes form a cytoktrong>introng>e gene cluster on chromosome 2. Two alternatively spliced transcript variants encodtrong>introng>g the same protetrong>introng> have been reported. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 9, subfamily M, member 1, pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 52, subfamily H, member 1 pseudogene
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olfactory trong>receptortrong>, family 7, subfamily E, member 24 pseudogene
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G protetrong>introng>-coupled trong>receptortrong> 141
GPR141 is a member of the rhodopstrong>introng> family of G protetrong>introng>-coupled trong>receptortrong>s (GPRs) (Fredriksson et al., 2003 [PubMed 14623098]).[supplied by OMIM, Mar 2008]
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G protetrong>introng>-coupled bile acid trong>receptortrong> 1
This gene encodes a member of the G protetrong>introng>-coupled trong>receptortrong> (GPCR) superfamily. This enzyme functions as a cell surface trong>receptortrong> for bile acids. Treatment of cells expresstrong>introng>g this GPCR with bile acids trong>introng>duces the production of trong>introng>tracellular cAMP, activation of a MAP ktrong>introng>ase signaltrong>introng>g pathway, and trong>introng>ternalization of the trong>receptortrong>. The trong>receptortrong> is implicated trong>introng> the suppression of macrophage functions and regulation of energy homeostasis by bile acids. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g the same protetrong>introng>. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 56, subfamily B, member 4
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 56, subfamily B, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily AK, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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tumor necrosis factor trong>receptortrong> superfamily, member 10c, decoy without an trong>introng>tracellular domatrong>introng>
The protetrong>introng> encoded by this gene is a member of the TNF-trong>receptortrong> superfamily. This trong>receptortrong> contatrong>introng>s an extracellular TRAIL-btrong>introng>dtrong>introng>g domatrong>introng> and a transmembrane domatrong>introng>, but no cytoplasmic death domatrong>introng>. This trong>receptortrong> is not capable of trong>introng>ductrong>introng>g apoptosis, and is thought to function as an antagonistic trong>receptortrong> that protects cells from TRAIL-trong>introng>duced apoptosis. This gene was found to be a p53-regulated DNA damage-trong>introng>ducible gene. The expression of this gene was detected trong>introng> many normal tissues but not trong>introng> most cancer cell ltrong>introng>es, which may explatrong>introng> the specific sensitivity of cancer cells to the apoptosis-trong>introng>ductrong>introng>g activity of TRAIL. [provided by RefSeq, Jul 2008]
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tumor necrosis factor trong>receptortrong> superfamily, member 10b
The protetrong>introng> encoded by this gene is a member of the TNF-trong>receptortrong> superfamily, and contatrong>introng>s an trong>introng>tracellular death domatrong>introng>. This trong>receptortrong> can be activated by tumor necrosis factor-related apoptosis trong>introng>ductrong>introng>g ligand (TNFSF10/TRAIL/APO-2L), and transduces an apoptosis signal. Studies with FADD-deficient mice suggested that FADD, a death domatrong>introng> contatrong>introng>trong>introng>g adaptor protetrong>introng>, is required for the apoptosis mediated by this protetrong>introng>. Two transcript variants encodtrong>introng>g different isoforms and one non-codtrong>introng>g transcript have been found for this gene. [provided by RefSeq, Mar 2009]
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tumor necrosis factor trong>receptortrong> superfamily, member 10d, decoy with truncated death domatrong>introng>
The protetrong>introng> encoded by this gene is a member of the TNF-trong>receptortrong> superfamily. This trong>receptortrong> contatrong>introng>s an extracellular TRAIL-btrong>introng>dtrong>introng>g domatrong>introng>, a transmembrane domatrong>introng>, and a truncated cytoplamic death domatrong>introng>. This trong>receptortrong> does not trong>introng>duce apoptosis, and has been shown to play an trong>introng>hibitory role trong>introng> TRAIL-trong>introng>duced cell apoptosis. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 14, subfamily A, member 16
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 11, subfamily G, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 1, subfamily N, member 1 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily K, member 2 pseudogene
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olfactory trong>receptortrong>, family 7, subfamily E, member 109 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 11, subfamily I, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily B, member 2 pseudogene
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olfactory trong>receptortrong>, family 11, subfamily H, member 13 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 48 pseudogene
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transient trong>receptortrong> potential cation channel, subfamily C, member 6 pseudogene
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vomeronasal 1 trong>receptortrong> 73 pseudogene
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olfactory trong>receptortrong>, family 13, subfamily K, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 8, subfamily I, member 4 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 6, subfamily C, member 73 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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proltrong>introng>e-rich trong>receptortrong>-like protetrong>introng> ktrong>introng>ase PERK2
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transient trong>receptortrong> potential cation channel, subfamily M, member 8
Predicted to enable ligand-gated calcium channel activity. Predicted to be trong>introng>volved trong>introng> calcium ion transmembrane transport and positive regulation of cold-trong>introng>duced thermogenesis. Predicted to act upstream of or withtrong>introng> several processes, trong>introng>cludtrong>introng>g trong>introng>tracellular calcium ion homeostasis; response to cold; and thermoception. Located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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transient trong>receptortrong> potential cation channel, subfamily M, member 4
The protetrong>introng> encoded by this gene is a calcium-activated nonselective ion channel that mediates transport of monovalent cations across membranes, thereby depolariztrong>introng>g the membrane. The activity of the encoded protetrong>introng> trong>introng>creases with trong>introng>creastrong>introng>g trong>introng>tracellular calcium concentration, but this channel does not transport calcium. [provided by RefSeq, Mar 2016]
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transient trong>receptortrong> potential cation channel, subfamily M, member 5
This gene encodes a member of the transient trong>receptortrong> potential (TRP) protetrong>introng> family, which is a diverse group of protetrong>introng>s with structural features typical of ion channels. This protetrong>introng> plays an important role trong>introng> taste transduction, and has characteristics of a calcium-activated, non-selective cation channel that carries Na+, K+, and Cs+ ions equally well, but not Ca(2+) ions. It is activated by lower concentrations of trong>introng>tracellular Ca(2+), and trong>introng>hibited by higher concentrations. It is also a highly temperature-sensitive, heat activated channel showtrong>introng>g a steep trong>introng>crease of trong>introng>ward currents at temperatures between 15 and 35 degrees Celsius. This gene is located withtrong>introng> the Beckwith-Wiedemann syndrome critical region-1 on chromosome 11p15.5, and has been shown to be imprtrong>introng>ted, with exclusive expression from the paternal allele. [provided by RefSeq, Oct 2010]
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transient trong>receptortrong> potential cation channel, subfamily M, member 6
This gene is predomtrong>introng>antly expressed trong>introng> the kidney and colon, and encodes a protetrong>introng> contatrong>introng>trong>introng>g an ion channel domatrong>introng> and a protetrong>introng> ktrong>introng>ase domatrong>introng>. It is crucial for magnesium homeostasis, and plays an essential role trong>introng> epithelial magnesium transport and trong>introng> the active magnesium absorption trong>introng> the gut and kidney. Mutations trong>introng> this gene are associated with hypomagnesemia with secondary hypocalcemia. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been noted for this gene. [provided by RefSeq, Apr 2010]
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transient trong>receptortrong> potential cation channel, subfamily M, member 7
This gene belongs to the melastattrong>introng> subfamily of transient trong>receptortrong> potential family of ion channels. The protetrong>introng> encoded by this gene is both an ion channel and a sertrong>introng>e/threontrong>introng>e protetrong>introng> ktrong>introng>ase. The ktrong>introng>ase activity is essential for the ion channel function, which serves to trong>introng>crease trong>introng>tracellular calcium levels and to help regulate magnesium ion homeostasis. The encoded protetrong>introng> is trong>introng>volved trong>introng> cytoskeletal organization, cell adhesion, cell migration and organogenesis. Defects trong>introng> this gene are a cause of amyotrophic lateral sclerosis-parktrong>introng>sonism/dementia complex of Guam. The gene may also be associated with defects of cardiac function. [provided by RefSeq, Aug 2017]
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transient trong>receptortrong> potential cation channel, subfamily M, member 1
This gene encodes a member of the transient trong>receptortrong> potential melastattrong>introng> subfamily of transient trong>receptortrong> potential ion channels. The encoded protetrong>introng> is a calcium permeable cation channel that is expressed trong>introng> melanocytes and may play a role trong>introng> melantrong>introng> synthesis. Specific mutations trong>introng> this gene are the cause autosomal recessive complete congenital stationary night bltrong>introng>dness-1C. The expression of this protetrong>introng> is trong>introng>versely correlated with melanoma aggressiveness and as such it is used as a prognostic marker for melanoma metastasis. Alternate splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Oct 2011]
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transient trong>receptortrong> potential cation channel, subfamily M, member 2
The protetrong>introng> encoded by this gene forms a tetrameric cation channel that is permeable to calcium, sodium, and potassium and is regulated by free trong>introng>tracellular ADP-ribose. The encoded protetrong>introng> is activated by oxidative stress and confers susceptibility to cell death. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g disttrong>introng>ct protetrong>introng> isoforms. Additional transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2016]
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transient trong>receptortrong> potential cation channel, subfamily M, member 3
The product of this gene belongs to the family of transient trong>receptortrong> potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium signaltrong>introng>g and homeostasis. The protetrong>introng> encoded by this gene mediates calcium entry, and this entry is potentiated by calcium store depletion. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been identified. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 13, subfamily Z, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily F, member 8 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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coxsackievirus and adenovirus trong>receptortrong> pseudogene
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scavenger trong>receptortrong> class F member 2-like
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reticulon 4 trong>receptortrong>-like 1
Enables signaltrong>introng>g trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> negative regulation of axon regeneration. Located trong>introng> cell surface and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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reticulon 4 trong>receptortrong>-like 2
Enables signaltrong>introng>g trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> cell surface trong>receptortrong> signaltrong>introng>g pathway; corpus callosum development; and negative regulation of neuron projection development. Located trong>introng> cell surface and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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toll-like trong>receptortrong> adaptor molecule 1
This gene encodes an adaptor protetrong>introng> contatrong>introng>trong>introng>g a Toll/trong>introng>terleuktrong>introng>-1 trong>receptortrong> (TIR) homology domatrong>introng>, which is an trong>introng>tracellular signaltrong>introng>g domatrong>introng> that mediates protetrong>introng>-protetrong>introng> trong>introng>teractions between the Toll-like trong>receptortrong>s (TLRs) and signal-transduction components. This protetrong>introng> is trong>introng>volved trong>introng> native immunity agatrong>introng>st trong>introng>vadtrong>introng>g pathogens. It specifically trong>introng>teracts with toll-like trong>receptortrong> 3, but not with other TLRs, and this association mediates dsRNA trong>introng>duction of trong>introng>terferon-trong>betatrong> through activation of nuclear factor kappa-B, durtrong>introng>g an antiviral immune response. Mutations trong>introng> this gene are associated with encephalopathy, acute, trong>introng>fection-trong>introng>duced. [provided by RefSeq, Jul 2020]
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toll-like trong>receptortrong> adaptor molecule 2
Enables molecular adaptor activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g positive regulation of trong>introng>terleuktrong>introng>-18-mediated signaltrong>introng>g pathway; regulation of cytoktrong>introng>e production; and regulation of trong>introng>nate immune response. Located trong>introng> endoplasmic reticulum; endosome; and phagocytic cup. Is active trong>introng> endosome membrane. [provided by Alliance of Genome Resources, Mar 2025]
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trong>introng>terleuktrong>introng> 6 trong>receptortrong> pseudogene 1
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trong>receptortrong> accessory protetrong>introng> 1
This gene encodes a mitochondrial protetrong>introng> that functions to enhance the cell surface expression of odorant trong>receptortrong>s. Mutations trong>introng> this gene cause spastic paraplegia autosomal domtrong>introng>ant type 31, a neurodegenerative disorder. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Sep 2009]
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trong>receptortrong> accessory protetrong>introng> 3
Predicted to enable microtubule btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> mitotic nuclear membrane reassembly. Predicted to be located trong>introng> endoplasmic reticulum; membrane; and microtubule. Predicted to be active trong>introng> cytoplasmic microtubule; endoplasmic reticulum membrane; and endoplasmic reticulum tubular network. [provided by Alliance of Genome Resources, Mar 2025]
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trong>receptortrong> accessory protetrong>introng> 2
This gene encodes a member of the trong>receptortrong> expression enhanctrong>introng>g protetrong>introng> family. Studies of a related gene trong>introng> mouse suggest that the encoded protetrong>introng> is found trong>introng> the cell membrane and enhances the function of sweet taste trong>receptortrong>s. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Nov 2012]
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trong>receptortrong> accessory protetrong>introng> 5
Predicted to be trong>introng>volved trong>introng> endoplasmic reticulum membrane organization and regulation of trong>introng>tracellular transport. Located trong>introng> endoplasmic reticulum tubular network. [provided by Alliance of Genome Resources, Mar 2025]
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trong>receptortrong> accessory protetrong>introng> 4
Predicted to enable microtubule btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> mitotic nuclear membrane reassembly. Located trong>introng> endoplasmic reticulum. [provided by Alliance of Genome Resources, Mar 2025]
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trong>receptortrong> accessory protetrong>introng> 6
The protetrong>introng> encoded by this gene may be trong>introng>volved trong>introng> the transport of trong>receptortrong>s from the endoplasmic reticulum (ER) to the cell surface. The encoded protetrong>introng> may also play a role trong>introng> regulattrong>introng>g ER membrane structure. This gene is required for the proper development of rettrong>introng>al rods and phototrong>receptortrong>s, with defects trong>introng> this gene betrong>introng>g associated with rettrong>introng>itis pigmentosa 77. [provided by RefSeq, May 2017]
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olfactory trong>receptortrong>, family 51, subfamily A, member 5 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 6, subfamily U, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 8, subfamily K, member 5 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily A, member 5 pseudogene
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olfactory trong>receptortrong>, family 8, subfamily U, member 1 pseudogene
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olfactory trong>receptortrong>, family 5, subfamily F, member 1 pseudogene
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olfactory trong>receptortrong>, family 8, subfamily D, member 4 pseudogene
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olfactory trong>receptortrong>, family 7, subfamily C, member 1 pseudogene
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olfactory trong>receptortrong>, family 5, subfamily P, member 3 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily A, member 5 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily H, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily H, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 51, subfamily Q, member 1 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily G, member 4
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 2 trong>receptortrong> 11 pseudogene
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trong>introng>terleuktrong>introng> 10 trong>receptortrong>, alpha
The protetrong>introng> encoded by this gene is a trong>receptortrong> for trong>introng>terleuktrong>introng> 10. This protetrong>introng> is structurally related to trong>introng>terferon trong>receptortrong>s. It has been shown to mediate the immunosuppressive signal of trong>introng>terleuktrong>introng> 10, and thus trong>introng>hibits the synthesis of protrong>introng>flammatory cytoktrong>introng>es. This trong>receptortrong> is reported to promote survival of progenitor myeloid cells through the trong>introng>sultrong>introng> trong>receptortrong> substrate-2/PI 3-ktrong>introng>ase/AKT pathway. Activation of this trong>receptortrong> leads to tyrostrong>introng>e phosphorylation of JAK1 and TYK2 ktrong>introng>ases. Two transcript variants, one protetrong>introng>-codtrong>introng>g and the other not protetrong>introng>-codtrong>introng>g, have been found for this gene. [provided by RefSeq, Jan 2009]
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trong>introng>terleuktrong>introng> 9 trong>receptortrong> pseudogene
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protetrong>introng> tyrostrong>introng>e phosphatase, non-trong>receptortrong> type 11 pseudogene
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nuclear trong>receptortrong> coactivator 4 pseudogene
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cadhertrong>introng>, EGF LAG seven-pass G-type trong>receptortrong> 3
This gene belongs to the flamtrong>introng>go subfamily, which is trong>introng>cluded trong>introng> the cadhertrong>introng> superfamily. The flamtrong>introng>go cadhertrong>introng>s consist of nonclassic-type cadhertrong>introng>s that do not trong>introng>teract with catentrong>introng>s. They are plasma membrane protetrong>introng>s contatrong>introng>trong>introng>g seven epidermal growth factor-like repeats, ntrong>introng>e cadhertrong>introng> domatrong>introng>s and two lamtrong>introng>trong>introng> A G-type repeats trong>introng> their ectodomatrong>introng>. They also have seven transmembrane domatrong>introng>s, a characteristic feature of their subfamily. The encoded protetrong>introng> may be trong>introng>volved trong>introng> the regulation of contact-dependent neurite growth and may play a role trong>introng> tumor formation. [provided by RefSeq, Jun 2013]
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cadhertrong>introng>, EGF LAG seven-pass G-type trong>receptortrong> 2
The protetrong>introng> encoded by this gene is a member of the flamtrong>introng>go subfamily, part of the cadhertrong>introng> superfamily. The flamtrong>introng>go subfamily consists of nonclassic-type cadhertrong>introng>s; a subpopulation that does not trong>introng>teract with catentrong>introng>s. The flamtrong>introng>go cadhertrong>introng>s are located at the plasma membrane and have ntrong>introng>e cadhertrong>introng> domatrong>introng>s, seven epidermal growth factor-like repeats and two lamtrong>introng>trong>introng> A G-type repeats trong>introng> their ectodomatrong>introng>. They also have seven transmembrane domatrong>introng>s, a characteristic unique to this subfamily. It is postulated that these protetrong>introng>s are trong>receptortrong>s trong>introng>volved trong>introng> contact-mediated communication, with cadhertrong>introng> domatrong>introng>s acttrong>introng>g as homophilic btrong>introng>dtrong>introng>g regions and the EGF-like domatrong>introng>s trong>introng>volved trong>introng> cell adhesion and trong>receptortrong>-ligand trong>introng>teractions. The specific function of this particular member has not been determtrong>introng>ed. [provided by RefSeq, Jul 2008]
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cadhertrong>introng>, EGF LAG seven-pass G-type trong>receptortrong> 1
The protetrong>introng> encoded by this gene is a member of the flamtrong>introng>go subfamily, part of the cadhertrong>introng> superfamily. The flamtrong>introng>go subfamily consists of nonclassic-type cadhertrong>introng>s; a subpopulation that does not trong>introng>teract with catentrong>introng>s. The flamtrong>introng>go cadhertrong>introng>s are located at the plasma membrane and have ntrong>introng>e cadhertrong>introng> domatrong>introng>s, seven epidermal growth factor-like repeats and two lamtrong>introng>trong>introng> A G-type repeats trong>introng> their ectodomatrong>introng>. They also have seven transmembrane domatrong>introng>s, a characteristic unique to this subfamily. It is postulated that these protetrong>introng>s are trong>receptortrong>s trong>introng>volved trong>introng> contact-mediated communication, with cadhertrong>introng> domatrong>introng>s acttrong>introng>g as homophilic btrong>introng>dtrong>introng>g regions and the EGF-like domatrong>introng>s trong>introng>volved trong>introng> cell adhesion and trong>receptortrong>-ligand trong>introng>teractions. This particular member is a developmentally regulated, neural-specific gene which plays an unspecified role trong>introng> early embryogenesis. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily G, member 3 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jan 2017]
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Fc fragment of IgA trong>receptortrong>
This gene is a member of the immunoglobultrong>introng> gene superfamily and encodes a trong>receptortrong> for the Fc region of IgA. The trong>receptortrong> is a transmembrane glycoprotetrong>introng> present on the surface of myeloid ltrong>introng>eage cells such as neutrophils, monocytes, macrophages, and eostrong>introng>ophils, where it mediates immunologic responses to pathogens. It trong>introng>teracts with IgA-opsonized targets and triggers several immunologic defense processes, trong>introng>cludtrong>introng>g phagocytosis, antibody-dependent cell-mediated cytotoxicity, and stimulation of the release of trong>introng>flammatory mediators. Multiple alternatively spliced transcript variants encodtrong>introng>g different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 52, subfamily S, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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protetrong>introng> tyrostrong>introng>e phosphatase, non-trong>receptortrong> type 9
The protetrong>introng> encoded by this gene is a member of the protetrong>introng> tyrostrong>introng>e phosphatase (PTP) family. PTPs are known to be signaltrong>introng>g molecules that regulate a variety of cellular processes trong>introng>cludtrong>introng>g cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contatrong>introng>s an N-termtrong>introng>al domatrong>introng> that shares a significant similarity with yeast SEC14, which is a protetrong>introng> that has phosphatidyltrong>introng>ositol transfer activity and is required for protetrong>introng> secretion through the Golgi complex trong>introng> yeast. This PTP was found to be activated by polyphosphotrong>introng>ositide, and is thought to be trong>introng>volved trong>introng> signaltrong>introng>g events regulattrong>introng>g phagocytosis. [provided by RefSeq, Jul 2008]
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protetrong>introng> tyrostrong>introng>e phosphatase, non-trong>receptortrong> type 2
The protetrong>introng> encoded by this gene is a member of the protetrong>introng> tyrostrong>introng>e phosphatase (PTP) family. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaltrong>introng>g molecules that regulate a variety of cellular processes trong>introng>cludtrong>introng>g cell growth, differentiation, mitotic cycle, and oncogenic transformation. Epidermal growth factor trong>receptortrong> and the adaptor protetrong>introng> Shc were reported to be substrates of this PTP, which suggested the roles trong>introng> growth factor mediated cell signaltrong>introng>g. Multiple alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found. Two highly related but disttrong>introng>ctly processed pseudogenes that localize to chromosomes 1 and 13, respectively, have been reported. [provided by RefSeq, May 2011]
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protetrong>introng> tyrostrong>introng>e phosphatase, non-trong>receptortrong> type 1
The protetrong>introng> encoded by this gene is the foundtrong>introng>g member of the protetrong>introng> tyrostrong>introng>e phosphatase (PTP) family, which was isolated and identified based on its enzymatic activity and amtrong>introng>o acid sequence. PTPs catalyze the hydrolysis of the phosphate monoesters specifically on tyrostrong>introng>e residues. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaltrong>introng>g molecules that regulate a variety of cellular processes trong>introng>cludtrong>introng>g cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP has been shown to act as a negative regulator of trong>introng>sultrong>introng> signaltrong>introng>g by dephosphorylattrong>introng>g the phosphotryostrong>introng>e residues of trong>introng>sultrong>introng> trong>receptortrong> ktrong>introng>ase. This PTP was also reported to dephosphorylate epidermal growth factor trong>receptortrong> ktrong>introng>ase, as well as JAK2 and TYK2 ktrong>introng>ases, which implicated the role of this PTP trong>introng> cell growth control, and cell response to trong>introng>terferon stimulation. Two transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
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protetrong>introng> tyrostrong>introng>e phosphatase, non-trong>receptortrong> type 7
The protetrong>introng> encoded by this gene is a member of the protetrong>introng> tyrostrong>introng>e phosphatase (PTP) family. PTPs are known to be signaltrong>introng>g molecules that regulate a variety of cellular processes trong>introng>cludtrong>introng>g cell growth, differentiation, mitotic cycle, and oncogenic transformation. This gene is preferentially expressed trong>introng> a variety of hematopoietic cells, and is an early response gene trong>introng> lymphoktrong>introng>e stimulated cells. The non-catalytic N-termtrong>introng>us of this PTP can trong>introng>teract with MAP ktrong>introng>ases and suppress the MAP ktrong>introng>ase activities. This PTP was shown to be trong>introng>volved trong>introng> the regulation of T cell antigen trong>receptortrong> (TCR) signaltrong>introng>g, which was thought to function through dephosphorylattrong>introng>g the molecules related to MAP ktrong>introng>ase pathway. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2010]
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protetrong>introng> tyrostrong>introng>e phosphatase, non-trong>receptortrong> type 6
The protetrong>introng> encoded by this gene is a member of the protetrong>introng> tyrostrong>introng>e phosphatase (PTP) family. PTPs are known to be signaltrong>introng>g molecules that regulate a variety of cellular processes trong>introng>cludtrong>introng>g cell growth, differentiation, mitotic cycle, and oncogenic transformation. N-termtrong>introng>al part of this PTP contatrong>introng>s two tandem Src homolog (SH2) domatrong>introng>s, which act as protetrong>introng> phospho-tyrostrong>introng>e btrong>introng>dtrong>introng>g domatrong>introng>s, and mediate the trong>introng>teraction of this PTP with its substrates. This PTP is expressed primarily trong>introng> hematopoietic cells, and functions as an important regulator of multiple signaltrong>introng>g pathways trong>introng> hematopoietic cells. This PTP has been shown to trong>introng>teract with, and dephosphorylate a wide spectrum of phospho-protetrong>introng>s trong>introng>volved trong>introng> hematopoietic cell signaltrong>introng>g. Multiple alternatively spliced variants of this gene, which encode disttrong>introng>ct isoforms, have been reported. [provided by RefSeq, Jul 2008]
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protetrong>introng> tyrostrong>introng>e phosphatase, non-trong>receptortrong> type 5 (striatum-enriched)
Enables phosphotyrostrong>introng>e residue btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> signal transduction. Predicted to act upstream of or withtrong>introng> protetrong>introng> dephosphorylation. Predicted to be located trong>introng> membrane and nucleoplasm. Predicted to be active trong>introng> cell junction; cytosol; and plasma membrane. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Mar 2025]
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protetrong>introng> tyrostrong>introng>e phosphatase, non-trong>receptortrong> type 4 (megakaryocyte)
The protetrong>introng> encoded by this gene is a member of the protetrong>introng> tyrostrong>introng>e phosphatase (PTP) family. PTPs are known to be signaltrong>introng>g molecules that regulate a variety of cellular processes trong>introng>cludtrong>introng>g cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protetrong>introng> contatrong>introng>s a C-termtrong>introng>al PTP domatrong>introng> and an N-termtrong>introng>al domatrong>introng> homologous to the band 4.1 superfamily of cytoskeletal-associated protetrong>introng>s. This PTP has been shown to trong>introng>teract with glutamate trong>receptortrong> delta 2 and epsilon subunits, and is thought to play a role trong>introng> signalltrong>introng>g downstream of the glutamate trong>receptortrong>s through tyrostrong>introng>e dephosphorylation. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 8 pseudogene
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olfactory trong>receptortrong>, family 5, subfamily BJ, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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5-hydroxytryptamtrong>introng>e (serotontrong>introng>) trong>receptortrong> 4, G protetrong>introng>-coupled
This gene is a member of the family of serotontrong>introng> trong>receptortrong>s, which are G protetrong>introng> coupled trong>receptortrong>s that stimulate cAMP production trong>introng> response to serotontrong>introng> (5-hydroxytryptamtrong>introng>e). The gene product is a glycosylated transmembrane protetrong>introng> that functions trong>introng> both the peripheral and central nervous system to modulate the release of various neurotransmitters. Multiple transcript variants encodtrong>introng>g protetrong>introng>s with disttrong>introng>ct C-termtrong>introng>al sequences have been described. [provided by RefSeq, May 2010]
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olfactory trong>receptortrong>, family 6, subfamily K, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily AE, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily AA, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 97 pseudogene
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olfactory trong>receptortrong>, family 7, subfamily E, member 24 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily Q, member 3 pseudogene
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olfactory trong>receptortrong>, family 6, subfamily C, member 2 pseudogene
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olfactory trong>receptortrong>, family 6, subfamily A, member 2 pseudogene
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olfactory trong>receptortrong>, family 6, subfamily A, member 2 pseudogene
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gamma-amtrong>introng>obutyric acid (GABA) A trong>receptortrong>, gamma 3
This gene encodes a gamma-amtrong>introng>obutyric acid (GABA) trong>receptortrong>. GABA is the major trong>introng>hibitory neurotransmitter trong>introng> the mammalian bratrong>introng> where it acts at GABA-A trong>receptortrong>s, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazeptrong>introng>es that btrong>introng>d to the GABA-A trong>receptortrong>. GABA-A trong>receptortrong>s are pentameric, consisttrong>introng>g of protetrong>introng>s from several subunit classes: alpha, trong>betatrong>, gamma, delta and rho. The protetrong>introng> encoded by this gene is a gamma subunit, which contatrong>introng>s the benzodiazeptrong>introng>e btrong>introng>dtrong>introng>g site. Two transcript variants encodtrong>introng>g disttrong>introng>ct isoforms have been found for this gene. [provided by RefSeq, Aug 2012]
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gamma-amtrong>introng>obutyric acid (GABA) A trong>receptortrong>, gamma 2
This gene encodes a gamma-amtrong>introng>obutyric acid (GABA) trong>receptortrong>. GABA is the major trong>introng>hibitory neurotransmitter trong>introng> the mammlian bratrong>introng>, where it acts at GABA-A trong>receptortrong>s, which are ligand-gated chloride channels. GABA-A trong>receptortrong>s are pentameric, consisttrong>introng>g of protetrong>introng>s from several subunit classes: alpha, trong>betatrong>, gamma, delta and rho. Mutations trong>introng> this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encodtrong>introng>g different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
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gamma-amtrong>introng>obutyric acid (GABA) A trong>receptortrong>, gamma 1
The protetrong>introng> encoded by this gene belongs to the ligand-gated ionic channel family. It is an trong>introng>tegral membrane protetrong>introng> and plays an important role trong>introng> trong>introng>hibittrong>introng>g neurotransmission by btrong>introng>dtrong>introng>g to the benzodiazeptrong>introng>e trong>receptortrong> and opentrong>introng>g an trong>introng>tegral chloride channel. This gene is clustered with three other family members on chromosome 4. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 37 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Mar 2011]
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olfactory trong>receptortrong>, family 5, subfamily AW, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily AC, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily AC, member 1 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jan 2017]
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olfactory trong>receptortrong>, family 9, subfamily R, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily G, member 7
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily G, member 6
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily G, member 3
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily G, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily G, member 9
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily G, member 8
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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glutamate trong>receptortrong>, ionotropic, katrong>introng>ate 1
Glutamate trong>receptortrong>s are the predomtrong>introng>ant excitatory neurotransmitter trong>receptortrong>s trong>introng> the mammalian bratrong>introng> and are activated trong>introng> a variety of normal neurophysiologic processes. This gene product belongs to the katrong>introng>ate family of glutamate trong>receptortrong>s, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA edittrong>introng>g (CAG->CGG; Q->R) withtrong>introng> the second transmembrane domatrong>introng>, which is thought to alter the properties of ion flow. Alternative splictrong>introng>g, resulttrong>introng>g trong>introng> transcript variants encodtrong>introng>g different isoforms, has been noted for this gene. [provided by RefSeq, Jul 2008]
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glutamate trong>receptortrong>, ionotropic, katrong>introng>ate 2
Glutamate trong>receptortrong>s are the predomtrong>introng>ant excitatory neurotransmitter trong>receptortrong>s trong>introng> the mammalian bratrong>introng> and are activated trong>introng> a variety of normal neurophysiologic processes. This gene product belongs to the katrong>introng>ate family of glutamate trong>receptortrong>s, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA edittrong>introng>g at multiple sites withtrong>introng> the first and second transmembrane domatrong>introng>s, which is thought to alter the structure and function of the trong>receptortrong> complex. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have also been described for this gene. Mutations trong>introng> this gene have been associated with autosomal recessive cognitive disability. [provided by RefSeq, Jul 2008]
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glutamate trong>receptortrong>, ionotropic, katrong>introng>ate 3
Glutamate trong>receptortrong>s are the predomtrong>introng>ant excitatory neurotransmitter trong>receptortrong>s trong>introng> the mammalian bratrong>introng> and are activated trong>introng> a variety of normal neurophysiologic processes. This gene product belongs to the katrong>introng>ate family of glutamate trong>receptortrong>s, which are composed of four subunits and function as ligand-activated ion channels. It is not certatrong>introng> if the subunit encoded by this gene is subject to RNA edittrong>introng>g as the other 2 family members (GRIK1 and GRIK2). A Ser310Ala polymorphism has been associated with schizophrenia, and there are conflicttrong>introng>g reports of its association with the pathogenesis of delirium tremens trong>introng> alcoholics. [provided by RefSeq, Jul 2008]
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glutamate trong>receptortrong>, ionotropic, katrong>introng>ate 4
This gene encodes a protetrong>introng> that belongs to the glutamate-gated ionic channel family. Glutamate functions as the major excitatory neurotransmitter trong>introng> the central nervous system through activation of ligand-gated ion channels and G protetrong>introng>-coupled membrane trong>receptortrong>s. The protetrong>introng> encoded by this gene forms functional heteromeric katrong>introng>ate-preferrtrong>introng>g ionic channels with the subunits encoded by related gene family members. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
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glutamate trong>receptortrong>, ionotropic, katrong>introng>ate 5
This gene encodes a protetrong>introng> that belongs to the glutamate-gated ionic channel family. Glutamate functions as the major excitatory neurotransmitter trong>introng> the central nervous system through activation of ligand-gated ion channels and G protetrong>introng>-coupled membrane trong>receptortrong>s. The protetrong>introng> encoded by this gene forms functional heteromeric katrong>introng>ate-preferrtrong>introng>g ionic channels with the subunits encoded by related gene family members. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jul 2014]
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glyctrong>introng>e trong>receptortrong>, alpha 1
The protetrong>introng> encoded by this gene is a subunit of a pentameric trong>introng>hibitory glyctrong>introng>e trong>receptortrong>, which mediates postsynaptic trong>introng>hibition trong>introng> the central nervous system. Defects trong>introng> this gene are a cause of startle disease (STHE), also known as hereditary hyperekplexia or congenital stiff-person syndrome. Multiple transcript variants encodtrong>introng>g different isoforms have been found. [provided by RefSeq, Dec 2015]
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chemoktrong>introng>e (C motif) trong>receptortrong> 1
The protetrong>introng> encoded by this gene is a chemoktrong>introng>e trong>receptortrong> belongtrong>introng>g to the G protetrong>introng>-coupled trong>receptortrong> superfamily. The family members are characterized by the presence of 7 transmembrane domatrong>introng>s. The encoded protetrong>introng> transduces a signal by trong>introng>creastrong>introng>g the trong>introng>tracellular calcium ion level. The viral macrophage trong>introng>flammatory protetrong>introng>-II is an antagonist of this trong>receptortrong> and blocks signaltrong>introng>g. Some studies have implicated a cluster of genes at 3p21.31, trong>introng>cludtrong>introng>g this gene, as associated with COVID-19 risk. The encoded protetrong>introng> may also play a role trong>introng> cell proliferation and migration trong>introng> several types of cancer. [provided by RefSeq, Jan 2023]
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xenotropic and polytropic retrovirus trong>receptortrong> 1
The protetrong>introng> encoded by this gene is a trong>receptortrong> for the xenotropic and polytropic classes of murtrong>introng>e leukemia viruses. The encoded protetrong>introng> is trong>introng>volved trong>introng> phosphate homeostasis by mediattrong>introng>g phosphate export from the cell. Defects trong>introng> this gene have been associated with idiopathic basal ganglia calcification-6. [provided by RefSeq, Jun 2016]
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vomeronasal 1 trong>receptortrong> 40 pseudogene
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folate trong>receptortrong> 3 (gamma) pseudogene 1
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olfactory trong>receptortrong>, family 4, subfamily A, member 14 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 158 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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calcium-senstrong>introng>g trong>receptortrong>
The protetrong>introng> encoded by this gene is a plasma membrane G protetrong>introng>-coupled trong>receptortrong> that senses small changes trong>introng> circulattrong>introng>g calcium concentration. The encoded protetrong>introng> couples this trong>introng>formation to trong>introng>tracellular signaltrong>introng>g pathways that modify parathyroid hormone secretion or renal cation handltrong>introng>g, and thus this protetrong>introng> plays an essential role trong>introng> matrong>introng>tatrong>introng>trong>introng>g mtrong>introng>eral ion homeostasis. Mutations trong>introng> this gene are a cause of familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal domtrong>introng>ant hypocalcemia. [provided by RefSeq, Aug 2017]
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mannose-6-phosphate trong>receptortrong> (cation dependent)
This gene encodes a member of the P-type lecttrong>introng> family. P-type lecttrong>introng>s play a critical role trong>introng> lysosome function through the specific transport of mannose-6-phosphate-contatrong>introng>trong>introng>g acid hydrolases from the Golgi complex to lysosomes. The encoded protetrong>introng> functions as a homodimer and requires divalent cations for ligand btrong>introng>dtrong>introng>g. Alternatively spliced transcript variants encodtrong>introng>g multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, May 2011]
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olfactory trong>receptortrong>, family 9, subfamily G, member 4 pseudogene
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macrophage stimulattrong>introng>g 1 trong>receptortrong>
This gene encodes a cell surface trong>receptortrong> for macrophage-stimulattrong>introng>g protetrong>introng> (MSP) with tyrostrong>introng>e ktrong>introng>ase activity. The mature form of this protetrong>introng> is a heterodimer of disulfide-ltrong>introng>ked alpha and trong>betatrong> subunits, generated by proteolytic cleavage of a strong>introng>gle-trong>chatrong>introng>trong> precursor. The trong>betatrong> subunit undergoes tyrostrong>introng>e phosphorylation upon stimulation by MSP. This protetrong>introng> is expressed on the ciliated epithelia of the mucociliary transport apparatus of the lung, and together with MSP, thought to be trong>introng>volved trong>introng> host defense. Alternative splictrong>introng>g generates multiple transcript variants encodtrong>introng>g different isoforms that may undergo similar proteolytic processtrong>introng>g. [provided by RefSeq, Jan 2016]
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glutamate trong>receptortrong> trong>introng>teracttrong>introng>g protetrong>introng> 1
This gene encodes a member of the glutamate trong>receptortrong> trong>introng>teracttrong>introng>g protetrong>introng> family. The encoded scaffold protetrong>introng> btrong>introng>ds to and mediates the trafficktrong>introng>g and membrane organization of a number of transmembrane protetrong>introng>s. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been described. [provided by RefSeq, May 2010]
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glutamate trong>receptortrong> trong>introng>teracttrong>introng>g protetrong>introng> 2
Predicted to enable glutamate trong>receptortrong> btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g neurotransmitter trong>receptortrong> transport, endosome to postsynaptic membrane; positive regulation of AMPA glutamate trong>receptortrong> clustertrong>introng>g; and positive regulation of excitatory postsynaptic potential. Predicted to act upstream of or withtrong>introng> Notch signaltrong>introng>g pathway; artery smooth muscle contraction; and positive regulation of blood pressure. Predicted to be located trong>introng> dendritic shaft. Predicted to be active trong>introng> glutamatergic synapse and postsynaptic density, trong>introng>tracellular component. [provided by Alliance of Genome Resources, Mar 2025]
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coxsackievirus and adenovirus trong>receptortrong>-like
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taste trong>receptortrong>, type 2, member 43
TAS2R43 belongs to the large TAS2R trong>receptortrong> family. TAS2Rs are expressed on the surface of taste trong>receptortrong> cells and mediate the perception of bitterness through a G protetrong>introng>-coupled second messenger pathway (Conte et al., 2002 [PubMed 12584440]). For further trong>introng>formation on TAS2Rs, see MIM 604791.[supplied by OMIM, Mar 2009]
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taste trong>receptortrong>, type 2, member 42
Predicted to enable G protetrong>introng>-coupled trong>receptortrong> activity and bitter taste trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway and detection of chemical stimulus trong>introng>volved trong>introng> sensory perception of bitter taste. Located trong>introng> membrane. [provided by Alliance of Genome Resources, Mar 2025]
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taste trong>receptortrong>, type 2, member 41
This gene encodes a member of the bitter taste trong>receptortrong> family which belong to the G protetrong>introng>-coupled trong>receptortrong> superfamily and are predomtrong>introng>antly expressed trong>introng> taste trong>receptortrong> cells of the tongue and palate epithelia. This trong>introng>tronless taste trong>receptortrong> gene encodes a seven-transmembrane trong>receptortrong> protetrong>introng>, functiontrong>introng>g as a bitter taste trong>receptortrong>. This gene is clustered together with eight other taste trong>receptortrong> genes on chromosome 7. Chloramphenicol is an agonist for the encoded protetrong>introng>. [provided by RefSeq, Jul 2017]
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taste trong>receptortrong>, type 2, member 40
This gene encodes a member of the bitter taste trong>receptortrong> family which belong to the G protetrong>introng>-coupled trong>receptortrong> superfamily and are predomtrong>introng>antly expressed trong>introng> taste trong>receptortrong> cells of the tongue and palate epithelia. This trong>introng>tronless taste trong>receptortrong> gene encodes a seven-transmembrane trong>receptortrong> protetrong>introng>, functiontrong>introng>g as a bitter taste trong>receptortrong>. This gene is clustered together with eight other taste trong>receptortrong> genes on chromosome 7. A decrease trong>introng> the expression of this gene is associated with hypogeusia. [provided by RefSeq, Jul 2017]
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taste trong>receptortrong>, type 2, member 46
TAS2R46 belongs to the large TAS2R trong>receptortrong> family. TAS2Rs are expressed on the surface of taste trong>receptortrong> cells and mediate the perception of bitterness through a G protetrong>introng>-coupled second messenger pathway (Conte et al., 2002 [PubMed 12584440]). For further trong>introng>formation on TAS2Rs, see MIM 604791.[supplied by OMIM, Sep 2009]
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taste trong>receptortrong>, type 2, member 45
Predicted to enable G protetrong>introng>-coupled trong>receptortrong> activity and bitter taste trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway and detection of chemical stimulus trong>introng>volved trong>introng> sensory perception of bitter taste. Located trong>introng> membrane. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong>, family 4, subfamily A, member 7 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 6, subfamily R, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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G protetrong>introng>-coupled trong>receptortrong>, class C, group 5, member D
The protetrong>introng> encoded by this gene is a member of the G protetrong>introng>-coupled trong>receptortrong> family; however, the specific function of this gene has not yet been determtrong>introng>ed. [provided by RefSeq, Jul 2008]
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G protetrong>introng>-coupled trong>receptortrong>, class C, group 5, member A
This gene encodes a member of the type 3 G protetrong>introng>-coupltrong>introng>g trong>receptortrong> family, characterized by the signature 7-transmembrane domatrong>introng> motif. The encoded protetrong>introng> may be trong>introng>volved trong>introng> trong>introng>teraction between rettrong>introng>oid acid and G protetrong>introng> signalltrong>introng>g pathways. Rettrong>introng>oic acid plays a critical role trong>introng> development, cellular growth, and differentiation. This gene may play a role trong>introng> embryonic development and epithelial cell differentiation. [provided by RefSeq, Jul 2008]
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G protetrong>introng>-coupled trong>receptortrong>, class C, group 5, member C
The protetrong>introng> encoded by this gene is a member of the type 3 G protetrong>introng>-coupled trong>receptortrong> family. Members of this superfamily are characterized by a signature 7-transmembrane domatrong>introng> motif. The specific function of this protetrong>introng> is unknown; however, this protetrong>introng> may mediate the cellular effects of rettrong>introng>oic acid on the G protetrong>introng> signal transduction cascade. Two transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 9, subfamily G, member 3 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily C, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily W, member 1 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily B, member 2 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily B, member 2 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily J, member 3 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily B, member 6 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily G, member 6 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily W, member 1 pseudogene
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G protetrong>introng>-coupled trong>receptortrong> 17
Predicted to enable G protetrong>introng>-coupled trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway. Predicted to act upstream of or withtrong>introng> negative regulation of trong>introng>flammatory response to antigenic stimulus. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong>, family 8, subfamily K, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 8, subfamily K, member 3 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jun 2015]
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olfactory trong>receptortrong>, family 1, subfamily F, member 2, pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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adhesion G protetrong>introng>-coupled trong>receptortrong> V1
This gene encodes a member of the G-protetrong>introng> coupled trong>receptortrong> superfamily. The encoded protetrong>introng> contatrong>introng>s a 7-transmembrane trong>receptortrong> domatrong>introng>, btrong>introng>ds calcium and is expressed trong>introng> the central nervous system. Mutations trong>introng> this gene are associated with Usher syndrome 2 and familial febrile seizures. Several alternatively spliced transcripts have been described. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 51, subfamily I, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 51, subfamily I, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 67 pseudogene
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olfactory trong>receptortrong>, family 52, subfamily I, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 52, subfamily I, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily AC, member 1 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jan 2017]
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G protetrong>introng>-coupled trong>receptortrong> 179
This gene encodes a member of the glutamate trong>receptortrong> subfamily of G protetrong>introng>-coupled trong>receptortrong>s. The encoded protetrong>introng> has an EGF-like calcium btrong>introng>dtrong>introng>g domatrong>introng> and a seven transmembrane domatrong>introng> trong>introng> the N-termtrong>introng>al region of the protetrong>introng>. Mutations trong>introng> this gene are associated with congenital stationary night bltrong>introng>dness type 1E. [provided by RefSeq, Apr 2012]
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G protetrong>introng>-coupled trong>receptortrong> 171
Predicted to enable G protetrong>introng>-coupled purtrong>introng>ergic nucleotide trong>receptortrong> activity; neuropeptide btrong>introng>dtrong>introng>g activity; and neuropeptide trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> adenylate cyclase-modulattrong>introng>g G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway; regulation of feedtrong>introng>g behavior; and regulation of sensory perception of patrong>introng>. Predicted to act upstream of or withtrong>introng> negative regulation of myeloid cell differentiation. Predicted to be located trong>introng> membrane. [provided by Alliance of Genome Resources, Mar 2025]
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G protetrong>introng>-coupled trong>receptortrong> 173
This gene encodes a member of the G-protetrong>introng> coupled trong>receptortrong> 1 family. This protetrong>introng> contatrong>introng>s 7 transmembrane domatrong>introng>s and conserved cystetrong>introng>e residues. [provided by RefSeq, Nov 2009]
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G protetrong>introng>-coupled trong>receptortrong> 174
This gene encodes a protetrong>introng> belongtrong>introng>g to the G protetrong>introng>-coupled trong>receptortrong> superfamily. These protetrong>introng>s are characterized by the presence of seven alpha-helical transmembrane domatrong>introng>s, and they activate or trong>introng>teract with various endogenous or exogenous ligands, trong>introng>cludtrong>introng>g neurotransmitters, hormones, and odorant and taste substances. This family member is classified as an orphan trong>receptortrong> because the cognate ligand has not been identified. [provided by RefSeq, Sep 2011]
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G protetrong>introng>-coupled trong>receptortrong> 176
Members of the G protetrong>introng>-coupled trong>receptortrong> family, such as GPR176, are cell surface trong>receptortrong>s trong>introng>volved trong>introng> responses to hormones, growth factors, and neurotransmitters (Hata et al., 1995 [PubMed 7893747]).[supplied by OMIM, Jul 2008]
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rettrong>introng>oic acid trong>receptortrong> responder (tazarotene trong>introng>duced) 2
This gene encodes a secreted chemotactic protetrong>introng> that trong>introng>itiates chemotaxis via the ChemR23 G protetrong>introng>-coupled seven-transmembrane domatrong>introng> ligand. Expression of this gene is upregulated by the synthetic rettrong>introng>oid tazarotene and occurs trong>introng> a wide variety of tissues. The active protetrong>introng> has several roles, trong>introng>cludtrong>introng>g that as an adipoktrong>introng>e and as an antimicrobial protetrong>introng> with activity agatrong>introng>st bacteria and fungi. [provided by RefSeq, Nov 2014]
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rettrong>introng>oic acid trong>receptortrong> responder (tazarotene trong>introng>duced) 3
Rettrong>introng>oids exert biologic effects such as potent growth trong>introng>hibitory and cell differentiation activities and are used trong>introng> the treatment of hyperproliferative dermatological diseases. These effects are mediated by specific nuclear trong>receptortrong> protetrong>introng>s that are members of the steroid and thyroid hormone trong>receptortrong> superfamily of transcriptional regulators. RARRES1, RARRES2, and RARRES3 are genes whose expression is upregulated by the synthetic rettrong>introng>oid tazarotene. RARRES3 is thought act as a tumor suppressor or growth regulator. [provided by RefSeq, Jul 2008]
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rettrong>introng>oic acid trong>receptortrong> responder (tazarotene trong>introng>duced) 1
This gene was identified as a rettrong>introng>oid acid (RA) trong>receptortrong>-responsive gene. It encodes a type 1 membrane protetrong>introng>. The expression of this gene is upregulated by tazarotene as well as by rettrong>introng>oic acid trong>receptortrong>s. The expression of this gene is found to be downregulated trong>introng> prostate cancer, which is caused by the methylation of its promoter and CpG island. Alternatively spliced transcript variant encodtrong>introng>g disttrong>introng>ct isoforms have been observed. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily I, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily D, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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protetrong>introng> tyrostrong>introng>e phosphatase, non-trong>receptortrong> type 11 pseudogene
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olfactory trong>receptortrong>, family 7, subfamily A, member 15 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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rettrong>introng>oic acid trong>receptortrong> responder protetrong>introng> 2 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily M, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily M, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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secrettrong>introng> trong>receptortrong>
The protetrong>introng> encoded by this gene is a G protetrong>introng>-coupled trong>receptortrong> and belongs to the glucagon-VIP-secrettrong>introng> trong>receptortrong> family. It btrong>introng>ds secrettrong>introng> which is the most potent regulator of pancreatic bicarbonate, electrolyte and volume secretion. Secrettrong>introng> and its trong>receptortrong> are suggested to be trong>introng>volved trong>introng> pancreatic cancer and autism. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 11, subfamily K, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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oxoeicosanoid (OXE) trong>receptortrong> 1
Enables G protetrong>introng>-coupled trong>receptortrong> activity and icosanoid btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> adenylate cyclase-trong>introng>hibittrong>introng>g G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong>, family 4, subfamily K, member 11 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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hyaluronan-mediated motility trong>receptortrong> (RHAMM)
The protetrong>introng> encoded by this gene is trong>introng>volved trong>introng> cell motility. It is expressed trong>introng> breast tissue and together with other protetrong>introng>s, it forms a complex with BRCA1 and BRCA2, thus is potentially associated with higher risk of breast cancer. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been noted for this gene. [provided by RefSeq, Dec 2008]
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olfactory trong>receptortrong>, family 5, subfamily M, member 14 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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leukotriene B4 trong>receptortrong>
Predicted to enable G protetrong>introng>-coupled peptide trong>receptortrong> activity and leukotriene B4 trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> neuropeptide signaltrong>introng>g pathway. Predicted to act upstream of or withtrong>introng> signal transduction. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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epidermal growth factor trong>receptortrong> pathway substrate 15
This gene encodes a protetrong>introng> that is part of the EGFR pathway. The protetrong>introng> is present at clathertrong>introng>-coated pits and is trong>introng>volved trong>introng> trong>receptortrong>-mediated endocytosis of EGF. Notably, this gene is rearranged with the HRX/ALL/MLL gene trong>introng> acute myelogeneous leukemias. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g disttrong>introng>ct isoforms. [provided by RefSeq, May 2009]
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olfactory trong>receptortrong>, family 14, subfamily A, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 1, subfamily G, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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C1D nuclear trong>receptortrong> corepressor pseudogene 4
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vasoactive trong>introng>testtrong>introng>al peptide trong>receptortrong> 2
This gene encodes a trong>receptortrong> for vasoactive trong>introng>testtrong>introng>al peptide, a small neuropeptide. Vasoactive trong>introng>testtrong>introng>al peptide is trong>introng>volved trong>introng> smooth muscle relaxation, exocrtrong>introng>e and endocrtrong>introng>e secretion, and water and ion flux trong>introng> lung and trong>introng>testtrong>introng>al epithelia. Its actions are effected through trong>introng>tegral membrane trong>receptortrong>s associated with a guantrong>introng>e nucleotide btrong>introng>dtrong>introng>g protetrong>introng> which activates adenylate cyclase. [provided by RefSeq, Aug 2011]
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vasoactive trong>introng>testtrong>introng>al peptide trong>receptortrong> 1
This gene encodes a trong>receptortrong> for vasoactive trong>introng>testtrong>introng>al peptide, a small neuropeptide. Vasoactive trong>introng>testtrong>introng>al peptide is trong>introng>volved trong>introng> smooth muscle relaxation, exocrtrong>introng>e and endocrtrong>introng>e secretion, and water and ion flux trong>introng> lung and trong>introng>testtrong>introng>al epithelia. Its actions are effected through trong>introng>tegral membrane trong>receptortrong>s associated with a guantrong>introng>e nucleotide btrong>introng>dtrong>introng>g protetrong>introng> which activates adenylate cyclase. Several transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
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olfactory trong>receptortrong>, family 5, subfamily BK, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 2 trong>receptortrong> 3 pseudogene
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olfactory trong>receptortrong>, family 10, subfamily T, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily C, member 46 pseudogene
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G protetrong>introng>-coupled trong>receptortrong> associated sorttrong>introng>g protetrong>introng> 2
The protetrong>introng> encoded by this gene is a member of a family that regulates the activity of G protetrong>introng>-coupled trong>receptortrong>s (GPCRs). The encoded protetrong>introng> has been shown to be capable of trong>introng>teracttrong>introng>g with several GPCRs, trong>introng>cludtrong>introng>g the M1 muscartrong>introng>ic acetylcholtrong>introng>e trong>receptortrong> and the calcitontrong>introng> trong>receptortrong>. Several transcript variants encodtrong>introng>g the same protetrong>introng> have been found for this gene. [provided by RefSeq, May 2010]
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G protetrong>introng>-coupled trong>receptortrong> associated sorttrong>introng>g protetrong>introng> 1
This gene encodes a member of the GPRASP (G protetrong>introng>-coupled trong>receptortrong> associated sorttrong>introng>g protetrong>introng>) family. The protetrong>introng> may modulate lysosomal sorttrong>introng>g and functional down-regulation of a variety of G-protetrong>introng> coupled trong>receptortrong>s. It targets trong>receptortrong>s for degradation trong>introng> lysosomes. The trong>receptortrong>s trong>introng>teracttrong>introng>g with this sorttrong>introng>g protetrong>introng> trong>introng>clude D2 dopamtrong>introng>e trong>receptortrong> (DRD2), delta opioid trong>receptortrong> (OPRD1), trong>betatrong>-2 adrenergic trong>receptortrong> (ADRB2), D4 dopamtrong>introng>e trong>receptortrong> (DRD4) and cannabtrong>introng>oid 1 trong>receptortrong> (CB1R). Multiple alternatively spliced transcript variants encodtrong>introng>g the same protetrong>introng> have been identified. [provided by RefSeq, May 2010]
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vomeronasal 1 trong>receptortrong> 83 pseudogene
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olfactory trong>receptortrong>, family 8, subfamily L, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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G protetrong>introng>-coupled trong>receptortrong> ktrong>introng>ase trong>introng>teracttrong>introng>g ArfGAP 1
Enables gamma-tubultrong>introng> btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> positive regulation of microtubule nucleation and regulation of cytoktrong>introng>esis. Located trong>introng> several cellular components, trong>introng>cludtrong>introng>g focal adhesion; microtubule cytoskeleton; and mitochondrion. Implicated trong>introng> attention deficit hyperactivity disorder. Biomarker of Hunttrong>introng>gton's disease. [provided by Alliance of Genome Resources, Mar 2025]
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G protetrong>introng>-coupled trong>receptortrong> ktrong>introng>ase trong>introng>teracttrong>introng>g ArfGAP 2
This gene encodes a member of the GIT protetrong>introng> family, which trong>introng>teract with G protetrong>introng>-coupled trong>receptortrong> ktrong>introng>ases and possess ADP-ribosylation factor (ARF) GTPase-activattrong>introng>g protetrong>introng> (GAP) activity. GIT protetrong>introng>s traffic between cytoplasmic complexes, focal adhesions, and the cell periphery, and trong>introng>teract with Pak trong>introng>teracttrong>introng>g exchange factor trong>betatrong> (PIX) to form large oligomeric complexes that transiently recruit other protetrong>introng>s. GIT protetrong>introng>s regulate cytoskeletal dynamics and participate trong>introng> trong>receptortrong> trong>introng>ternalization and membrane trafficktrong>introng>g. This gene has been shown to repress lamellipodial extension and focal adhesion turnover, and is thought to regulate cell motility. This gene undergoes extensive alternative splictrong>introng>g to generate multiple isoforms, but the full-length nature of some of these variants has not been determtrong>introng>ed. The various isoforms have functional differences, with respect to ARF GAP activity and to G protetrong>introng>-coupled trong>receptortrong> ktrong>introng>ase 2 btrong>introng>dtrong>introng>g. [provided by RefSeq, Sep 2008]
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5-hydroxytryptamtrong>introng>e (serotontrong>introng>) trong>receptortrong> 7 pseudogene 1
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olfactory trong>receptortrong>, family 7, subfamily E, member 85 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 6, subfamily B, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 6, subfamily B, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 6, subfamily B, member 3
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 16 pseudogene
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diazepam btrong>introng>dtrong>introng>g trong>introng>hibitor (GABA trong>receptortrong> modulator, acyl-CoA btrong>introng>dtrong>introng>g protetrong>introng>)
This gene encodes diazepam btrong>introng>dtrong>introng>g trong>introng>hibitor, a protetrong>introng> that is regulated by hormones and is trong>introng>volved trong>introng> lipid metabolism and the displacement of trong>betatrong>-carboltrong>introng>es and benzodiazeptrong>introng>es, which modulate signal transduction at type A gamma-amtrong>introng>obutyric acid trong>receptortrong>s located trong>introng> bratrong>introng> synapses. The protetrong>introng> is conserved from yeast to mammals, with the most highly conserved domatrong>introng> consisttrong>introng>g of seven contiguous residues that constitute the hydrophobic btrong>introng>dtrong>introng>g site for medium- and long-trong>chatrong>introng>trong> acyl-Coenzyme A esters. Diazepam btrong>introng>dtrong>introng>g trong>introng>hibitor is also known to mediate the feedback regulation of pancreatic secretion and the postprandial release of cholecystoktrong>introng>trong>introng>, trong>introng> addition to its role as a mediator trong>introng> corticotroptrong>introng>-dependent adrenal steroidogenesis. Three pseudogenes located on chromosomes 6, 8 and 16 have been identified. Multiple transcript variants encodtrong>introng>g different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 14 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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ephrtrong>introng> type-B trong>receptortrong> 6-like
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signal sequence trong>receptortrong>, alpha pseudogene 1
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CD36 molecule (thrombospondtrong>introng> trong>receptortrong>)
The protetrong>introng> encoded by this gene is the fourth major glycoprotetrong>introng> of the platelet surface and serves as a trong>receptortrong> for thrombospondtrong>introng> trong>introng> platelets and various cell ltrong>introng>es. Strong>introng>ce thrombospondtrong>introng>s are widely distributed protetrong>introng>s trong>introng>volved trong>introng> a variety of adhesive processes, this protetrong>introng> may have important functions as a cell adhesion molecule. It btrong>introng>ds to collagen, thrombospondtrong>introng>, anionic phospholipids and oxidized LDL. It directly mediates cytoadherence of Plasmodium falciparum parasitized erythrocytes and it btrong>introng>ds long trong>chatrong>introng>trong> fatty acids and may function trong>introng> the transport and/or as a regulator of fatty acid transport. Mutations trong>introng> this gene cause platelet glycoprotetrong>introng> deficiency. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2014]
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olfactory trong>receptortrong>, family 52, subfamily K, member 3 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 38 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily A, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 9, subfamily K, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily Q, member 1 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily D, member 11 pseudogene
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olfactory trong>receptortrong>, family 5, subfamily AK, member 2 pseudogene
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olfactory trong>receptortrong>, family 5, subfamily D, member 13 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily A, member 15 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily A, member 16 pseudogene
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olfactory trong>receptortrong>, family 10, subfamily Q, member 1 pseudogene
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olfactory trong>receptortrong>, family 5, subfamily D, member 3 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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Fc fragment of IgG, low afftrong>introng>ity IIIa, trong>receptortrong> (CD16a)
This gene encodes a trong>receptortrong> for the Fc portion of immunoglobultrong>introng> G, and it is trong>introng>volved trong>introng> the removal of antigen-antibody complexes from the circulation, as well as other responses, trong>introng>cludtrong>introng>g antibody dependent cellular mediated cytotoxicity and antibody dependent enhancement of virus trong>introng>fections. This gene (FCGR3A) is highly similar to another nearby gene (FCGR3B) located on chromosome 1. The trong>receptortrong> encoded by this gene is expressed on natural killer (NK) cells as an trong>introng>tegral membrane glycoprotetrong>introng> anchored through a transmembrane peptide, whereas FCGR3B is expressed on polymorphonuclear neutrophils (PMN) where the trong>receptortrong> is anchored through a phosphatidyltrong>introng>ositol (PI) ltrong>introng>kage. Mutations trong>introng> this gene are associated with immunodeficiency 20, and have been ltrong>introng>ked to susceptibility to recurrent viral trong>introng>fections, susceptibility to systemic lupus erythematosus, and alloimmune neonatal neutropenia. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Aug 2020]
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Fc fragment of IgG, low afftrong>introng>ity IIIb, trong>receptortrong> (CD16b)
The protetrong>introng> encoded by this gene is a low afftrong>introng>ity trong>receptortrong> for the Fc region of gamma immunoglobultrong>introng>s (IgG). The encoded protetrong>introng> acts as a monomer and can btrong>introng>d either monomeric or aggregated IgG. This gene may function to capture immune complexes trong>introng> the peripheral circulation. Several transcript variants encodtrong>introng>g different isoforms have been found for this gene. A highly-similar gene encodtrong>introng>g a related protetrong>introng> is also found on chromosome 1. [provided by RefSeq, Aug 2012]
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vomeronasal 1 trong>receptortrong> 36 pseudogene
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protetrong>introng> tyrostrong>introng>e phosphatase, trong>receptortrong> type, D pseudogene
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chemoktrong>introng>e (C-C motif) trong>receptortrong> 10
Chemoktrong>introng>es are a group of small (approximately 8 to 14 kD), mostly basic, structurally related molecules that regulate cell trafficktrong>introng>g of various types of leukocytes through trong>introng>teractions with a subset of 7-transmembrane, G protetrong>introng>-coupled trong>receptortrong>s. Chemoktrong>introng>es also play fundamental roles trong>introng> the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells trong>introng>volved trong>introng> angiogenesis or angiostasis. Chemoktrong>introng>es are divided trong>introng>to 2 major subfamilies, CXC and CC, based on the arrangement of the first 2 of the 4 conserved cystetrong>introng>e residues; the 2 cystetrong>introng>es are separated by a strong>introng>gle amtrong>introng>o acid trong>introng> CXC chemoktrong>introng>es and are adjacent trong>introng> CC chemoktrong>introng>es. CCR10 is the trong>receptortrong> for CCL27 (SCYA27; MIM 604833); CCR10-CCL27 trong>introng>teractions are trong>introng>volved trong>introng> T cell-mediated sktrong>introng> trong>introng>flammation (Homey et al., 2002 [PubMed 11821900]).[supplied by OMIM, Mar 2008]
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olfactory trong>receptortrong>, family 51, subfamily A, member 4
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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annextrong>introng> A2 trong>receptortrong>
Predicted to enable signaltrong>introng>g trong>receptortrong> activity. [provided by Alliance of Genome Resources, Mar 2025]
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relaxtrong>introng>/trong>introng>sultrong>introng>-like family peptide trong>receptortrong> 3 pseudogene
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G protetrong>introng>-coupled trong>receptortrong>, class C, group 5, member B
This gene encodes a member of the type 3 G protetrong>introng>-coupled trong>receptortrong> family. Members of this superfamily are characterized by a signature 7-transmembrane domatrong>introng> motif. The encoded protetrong>introng> may modulate trong>introng>sultrong>introng> secretion and trong>introng>creased protetrong>introng> expression is associated with type 2 diabetes. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Feb 2015]
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olfactory trong>receptortrong>, family 52, subfamily A, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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estrogen trong>receptortrong> btrong>introng>dtrong>introng>g site associated, antigen, 9 pseudogene 1
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MAS1 proto-oncogene like, G protetrong>introng>-coupled trong>receptortrong> pseudogene
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MAS1 proto-oncogene like, G protetrong>introng>-coupled trong>receptortrong> pseudogene
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MAS1 proto-oncogene like, G protetrong>introng>-coupled trong>receptortrong> pseudogene
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MAS1 proto-oncogene like, G protetrong>introng>-coupled trong>receptortrong> pseudogene
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MAS1 proto-oncogene like, G protetrong>introng>-coupled trong>receptortrong> pseudogene
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MAS1 proto-oncogene like, G protetrong>introng>-coupled trong>receptortrong> pseudogene
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MAS1 proto-oncogene like, G protetrong>introng>-coupled trong>receptortrong> pseudogene
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MAS1 proto-oncogene like, G protetrong>introng>-coupled trong>receptortrong> pseudogene
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olfactory trong>receptortrong>, family 2, subfamily W, member 6 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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TNF trong>receptortrong>-associated factor 1
The protetrong>introng> encoded by this gene is a member of the TNF trong>receptortrong> (TNFR) associated factor (TRAF) protetrong>introng> family. TRAF protetrong>introng>s associate with, and mediate the signal transduction from various trong>receptortrong>s of the TNFR superfamily. This protetrong>introng> and TRAF2 form a heterodimeric complex, which is required for TNF-alpha-mediated activation of MAPK8/JNK and NF-kappaB. The protetrong>introng> complex formed by this protetrong>introng> and TRAF2 also trong>introng>teracts with trong>introng>hibitor-of-apoptosis protetrong>introng>s (IAPs), and thus mediates the anti-apoptotic signals from TNF trong>receptortrong>s. The expression of this protetrong>introng> can be trong>introng>duced by Epstetrong>introng>-Barr virus (EBV). EBV trong>introng>fection membrane protetrong>introng> 1 (LMP1) is found to trong>introng>teract with this and other TRAF protetrong>introng>s; this trong>introng>teraction is thought to ltrong>introng>k LMP1-mediated B lymphocyte transformation to the signal transduction from TNFR family trong>receptortrong>s. Three transcript variants encodtrong>introng>g two different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
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TNF trong>receptortrong>-associated factor 2
The protetrong>introng> encoded by this gene is a member of the TNF trong>receptortrong> associated factor (TRAF) protetrong>introng> family. TRAF protetrong>introng>s associate with, and mediate the signal transduction from members of the TNF trong>receptortrong> superfamily. This protetrong>introng> directly trong>introng>teracts with TNF trong>receptortrong>s, and forms a heterodimeric complex with TRAF1. This protetrong>introng> is required for TNF-alpha-mediated activation of MAPK8/JNK and NF-kappaB. The protetrong>introng> complex formed by this protetrong>introng> and TRAF1 trong>introng>teracts with the trong>introng>hibitor-of-apoptosis protetrong>introng>s (IAPs), and functions as a mediator of the anti-apoptotic signals from TNF trong>receptortrong>s. The trong>introng>teraction of this protetrong>introng> with TRADD, a TNF trong>receptortrong> associated apoptotic signal transducer, ensures the recruitment of IAPs for the direct trong>introng>hibition of caspase activation. BIRC2/c-IAP1, an apoptosis trong>introng>hibitor possesstrong>introng>g ubiquittrong>introng> ligase activity, can unbiquittrong>introng>ate and trong>introng>duce the degradation of this protetrong>introng>, and thus potentiate TNF-trong>introng>duced apoptosis. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of only one transcript has been determtrong>introng>ed. [provided by RefSeq, Jul 2008]
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TNF trong>receptortrong>-associated factor 3
The protetrong>introng> encoded by this gene is a member of the TNF trong>receptortrong> associated factor (TRAF) protetrong>introng> family. TRAF protetrong>introng>s associate with, and mediate the signal transduction from, members of the TNF trong>receptortrong> (TNFR) superfamily. This protetrong>introng> participates trong>introng> the signal transduction of CD40, a TNFR family member important for the activation of the immune response. This protetrong>introng> is found to be a critical component of the lymphotoxtrong>introng>-trong>betatrong> trong>receptortrong> (LTtrong>betatrong>R) signaltrong>introng>g complex, which trong>introng>duces NF-kappaB activation and cell death trong>introng>itiated by LTtrong>betatrong> ligation. Epstetrong>introng>-Barr virus encoded latent trong>introng>fection membrane protetrong>introng>-1 (LMP1) can trong>introng>teract with this and several other members of the TRAF family, which may be essential for the oncogenic effects of LMP1. The protetrong>introng> also plays a role trong>introng> the regulation of antiviral response. Mutations trong>introng> this are associated with Encephalopathy, acute, trong>introng>fection-trong>introng>duced, herpes-specific 5. [provided by RefSeq, Jul 2020]
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TNF trong>receptortrong>-associated factor 4
This gene encodes a member of the TNF trong>receptortrong> associated factor (TRAF) family. TRAF protetrong>introng>s are associated with, and mediate signal transduction from members of the TNF trong>receptortrong> superfamily. The encoded protetrong>introng> has been shown to trong>introng>teract with neurotrophtrong>introng> trong>receptortrong>, p75 (NTR/NTSR1), and negatively regulate NTR trong>introng>duced cell death and NF-kappa B activation. This protetrong>introng> has been found to btrong>introng>d to p47phox, a cytosolic regulatory factor trong>introng>cluded trong>introng> a multi-protetrong>introng> complex known as NAD(P)H oxidase. This protetrong>introng> thus, is thought to be trong>introng>volved trong>introng> the oxidative activation of MAPK8/JNK. Alternatively spliced transcript variants have been observed but the full-length nature of only one has been determtrong>introng>ed. [provided by RefSeq, Jul 2008]
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TNF trong>receptortrong>-associated factor 5
The scaffold protetrong>introng> encoded by this gene is a member of the tumor necrosis factor trong>receptortrong>-associated factor (TRAF) protetrong>introng> family and contatrong>introng>s a meprtrong>introng> and TRAF homology (MATH) domatrong>introng>, a RING-type ztrong>introng>c ftrong>introng>ger, and two TRAF-type ztrong>introng>c ftrong>introng>gers. TRAF protetrong>introng>s are associated with, and mediate signal transduction from members of the TNF trong>receptortrong> superfamily. This protetrong>introng> is one of the components of a multiple protetrong>introng> complex which btrong>introng>ds to tumor necrosis factor (TNF) trong>receptortrong> cytoplasmic domatrong>introng>s and mediates TNF-trong>introng>duced activation. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
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TNF trong>receptortrong>-associated factor 6, E3 ubiquittrong>introng> protetrong>introng> ligase
The protetrong>introng> encoded by this gene is a member of the TNF trong>receptortrong> associated factor (TRAF) protetrong>introng> family. TRAF protetrong>introng>s are associated with, and mediate signal transduction from, members of the TNF trong>receptortrong> superfamily. This protetrong>introng> has an amtrong>introng>o termtrong>introng>al RING domatrong>introng> which is followed by four ztrong>introng>c-ftrong>introng>ger motifs, a central coiled-coil region and a highly conserved carboxyl termtrong>introng>al domatrong>introng>, known as the TRAF-C domatrong>introng> and mediates signaltrong>introng>g from members of the TNF trong>receptortrong> superfamily as well as the Toll/IL-1 family. Signals from trong>receptortrong>s such as CD40, TNFSF11/RANCE and IL-1 have been shown to be mediated by this protetrong>introng>. This protetrong>introng> also trong>introng>teracts with various protetrong>introng> ktrong>introng>ases trong>introng>cludtrong>introng>g IRAK1/IRAK, SRC and PKCzeta, which provides a ltrong>introng>k between disttrong>introng>ct signaltrong>introng>g pathways. This protetrong>introng> functions as a signal transducer trong>introng> the NF-kappaB pathway that activates IkappaB ktrong>introng>ase (IKK) trong>introng> response to protrong>introng>flammatory cytoktrong>introng>es. The trong>introng>teraction of this protetrong>introng> with UBE2N/UBC13, and UBE2V1/UEV1A, which are ubiquittrong>introng> conjugattrong>introng>g enzymes catalyztrong>introng>g the formation of polyubiquittrong>introng> trong>chatrong>introng>trong>s, has been found to be required for IKK activation by this protetrong>introng>. This protetrong>introng> also trong>introng>teracts with the transformtrong>introng>g growth factor (TGF) trong>betatrong> trong>receptortrong> complex and is required for Smad-trong>introng>dependent activation of the JNK and p38 ktrong>introng>ases. The protetrong>introng> encoded by this gene is a key molecule trong>introng> antiviral trong>introng>nate and antigen-specific immune responses. [provided by RefSeq, Nov 2021]
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TNF trong>receptortrong>-associated factor 7, E3 ubiquittrong>introng> protetrong>introng> ligase
Tumor necrosis factor (TNF; see MIM 191160) trong>receptortrong>-associated factors, such as TRAF7, are signal transducers for members of the TNF trong>receptortrong> superfamily (see MIM 191190). TRAFs are composed of an N-termtrong>introng>al cystetrong>introng>e/histidtrong>introng>e-rich region contatrong>introng>trong>introng>g ztrong>introng>c RING and/or ztrong>introng>c ftrong>introng>ger motifs; a coiled-coil (leuctrong>introng>e zipper) motif; and a homologous region that deftrong>introng>es the TRAF family, the TRAF domatrong>introng>, which is trong>introng>volved trong>introng> self-association and trong>receptortrong> btrong>introng>dtrong>introng>g.[supplied by OMIM, Apr 2004]
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natriuretic peptide trong>receptortrong> 2
This gene encodes natriuretic peptide trong>receptortrong> B, one of two trong>introng>tegral membrane trong>receptortrong>s for natriuretic peptides. Both NPR1 and NPR2 contatrong>introng> five functional domatrong>introng>s: an extracellular ligand-btrong>introng>dtrong>introng>g domatrong>introng>, a strong>introng>gle membrane-spanntrong>introng>g region, and trong>introng>tracellularly a protetrong>introng> ktrong>introng>ase homology domatrong>introng>, a helical htrong>introng>ge region trong>introng>volved trong>introng> oligomerization, and a carboxyl-termtrong>introng>al guanylyl cyclase catalytic domatrong>introng>. The protetrong>introng> is the primary trong>receptortrong> for C-type natriuretic peptide (CNP), which upon ligand btrong>introng>dtrong>introng>g exhibits greatly trong>introng>creased guanylyl cyclase activity. Mutations trong>introng> this gene are the cause of acromesomelic dysplasia Maroteaux type. [provided by RefSeq, Jul 2008]
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natriuretic peptide trong>receptortrong> 3
This gene encodes one of three natriuretic peptide trong>receptortrong>s. Natriutetic peptides are small peptides which regulate blood volume and pressure, pulmonary hypertension, and cardiac function as well as some metabolic and growth processes. The product of this gene encodes a natriuretic peptide trong>receptortrong> responsible for cleartrong>introng>g circulattrong>introng>g and extracellular natriuretic peptides through endocytosis of the trong>receptortrong>. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]
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olfactory trong>receptortrong>, family 5, subfamily A, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily A, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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glutamate trong>receptortrong>, metabotropic 8
L-glutamate is the major excitatory neurotransmitter trong>introng> the central nervous system and activates both ionotropic and metabotropic glutamate trong>receptortrong>s. Glutamatergic neurotransmission is trong>introng>volved trong>introng> most aspects of normal bratrong>introng> function and can be perturbed trong>introng> many neuropathologic conditions. The metabotropic glutamate trong>receptortrong>s are a family of G protetrong>introng>-coupled trong>receptortrong>s, that have been divided trong>introng>to 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I trong>introng>cludes GRM1 and GRM5 and these trong>receptortrong>s have been shown to activate phospholipase C. Group II trong>introng>cludes GRM2 and GRM3 while Group III trong>introng>cludes GRM4, GRM6, GRM7 and GRM8. Group II and III trong>receptortrong>s are ltrong>introng>ked to the trong>introng>hibition of the cyclic AMP cascade but differ trong>introng> their agonist selectivities. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
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glutamate trong>receptortrong>, metabotropic 4
L-glutamate is the major excitatory neurotransmitter trong>introng> the central nervous system and activates both ionotropic and metabotropic glutamate trong>receptortrong>s. Glutamatergic neurotransmission is trong>introng>volved trong>introng> most aspects of normal bratrong>introng> function and can be perturbed trong>introng> many neuropathologic conditions. The metabotropic glutamate trong>receptortrong>s are a family of G protetrong>introng>-coupled trong>receptortrong>s, that have been divided trong>introng>to 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I trong>introng>cludes GRM1 and GRM5 and these trong>receptortrong>s have been shown to activate phospholipase C. Group II trong>introng>cludes GRM2 and GRM3 while Group III trong>introng>cludes GRM4, GRM6, GRM7 and GRM8. Group II and III trong>receptortrong>s are ltrong>introng>ked to the trong>introng>hibition of the cyclic AMP cascade but differ trong>introng> their agonist selectivities. Several transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
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glutamate trong>receptortrong>, metabotropic 5
This gene encodes a member of the G-protetrong>introng> coupled trong>receptortrong> 3 protetrong>introng> family. The encoded protetrong>introng> is a metabatropic glutamate trong>receptortrong>, whose signaltrong>introng>g activates a phosphatidyltrong>introng>ositol-calcium second messenger system. This protetrong>introng> may be trong>introng>volved trong>introng> the regulation of neural network activity and synaptic plasticity. Glutamatergic neurotransmission is trong>introng>volved trong>introng> most aspects of normal bratrong>introng> function and can be perturbed trong>introng> many neuropathologic conditions. A pseudogene of this gene has been deftrong>introng>ed on chromosome 11. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, May 2014]
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glutamate trong>receptortrong>, metabotropic 6
L-glutamate is the major excitatory neurotransmitter trong>introng> the central nervous system and activates both ionotropic and metabotropic glutamate trong>receptortrong>s. Glutamatergic neurotransmission is trong>introng>volved trong>introng> most aspects of normal bratrong>introng> function and can be perturbed trong>introng> many neuropathologic conditions. The metabotropic glutamate trong>receptortrong>s are a family of G protetrong>introng>-coupled trong>receptortrong>s, that have been divided trong>introng>to 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I trong>introng>cludes GRM1 and GRM5 and these trong>receptortrong>s have been shown to activate phospholipase C. Group II trong>introng>cludes GRM2 and GRM3 while Group III trong>introng>cludes GRM4, GRM6, GRM7 and GRM8. Group II and III trong>receptortrong>s are ltrong>introng>ked to the trong>introng>hibition of the cyclic AMP cascade but differ trong>introng> their agonist selectivities. Mutations trong>introng> this gene result trong>introng> congenital stationary night bltrong>introng>dness type 1B. [provided by RefSeq, May 2018]
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glutamate trong>receptortrong>, metabotropic 7
L-glutamate is the major excitatory neurotransmitter trong>introng> the central nervous system, and it activates both ionotropic and metabotropic glutamate trong>receptortrong>s. Glutamatergic neurotransmission is trong>introng>volved trong>introng> most aspects of normal bratrong>introng> function and can be perturbed trong>introng> many neuropathologic conditions. The metabotropic glutamate trong>receptortrong>s are a family of G protetrong>introng>-coupled trong>receptortrong>s that have been divided trong>introng>to three groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I trong>introng>cludes GRM1 and GRM5, and these trong>receptortrong>s have been shown to activate phospholipase C. Group II trong>introng>cludes GRM2 and GRM3, while Group III trong>introng>cludes GRM4, GRM6, GRM7 and GRM8. Group II and III trong>receptortrong>s are ltrong>introng>ked to the trong>introng>hibition of the cyclic AMP cascade but differ trong>introng> their agonist selectivities. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]
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glutamate trong>receptortrong>, metabotropic 1
This gene encodes a metabotropic glutamate trong>receptortrong> that functions by activattrong>introng>g phospholipase C. L-glutamate is the major excitatory neurotransmitter trong>introng> the central nervous system and activates both ionotropic and metabotropic glutamate trong>receptortrong>s. Glutamatergic neurotransmission is trong>introng>volved trong>introng> most aspects of normal bratrong>introng> function and can be perturbed trong>introng> many neuropathologic conditions. The canonical alpha isoform of the encoded protetrong>introng> is a disulfide-ltrong>introng>ked homodimer whose activity is mediated by a G-protetrong>introng>-coupled phosphatidyltrong>introng>ositol-calcium second messenger system. This gene may be associated with many disease states, trong>introng>cludtrong>introng>g schizophrenia, bipolar disorder, depression, and breast cancer. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g different isoforms. [provided by RefSeq, May 2013]
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glutamate trong>receptortrong>, metabotropic 2
L-glutamate is the major excitatory neurotransmitter trong>introng> the central nervous system and activates both ionotropic and metabotropic glutamate trong>receptortrong>s. Glutamatergic neurotransmission is trong>introng>volved trong>introng> most aspects of normal bratrong>introng> function and can be perturbed trong>introng> many neuropathologic conditions. The metabotropic glutamate trong>receptortrong>s are a family of G protetrong>introng>-coupled trong>receptortrong>s, that have been divided trong>introng>to 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I trong>introng>cludes GRM1 and GRM5 and these trong>receptortrong>s have been shown to activate phospholipase C. Group II trong>introng>cludes GRM2 and GRM3 while Group III trong>introng>cludes GRM4, GRM6, GRM7 and GRM8. Group II and III trong>receptortrong>s are ltrong>introng>ked to the trong>introng>hibition of the cyclic AMP cascade but differ trong>introng> their agonist selectivities. Several transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Mar 2017]
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glutamate trong>receptortrong>, metabotropic 3
L-glutamate is the major excitatory neurotransmitter trong>introng> the central nervous system and activates both ionotropic and metabotropic glutamate trong>receptortrong>s. Glutamatergic neurotransmission is trong>introng>volved trong>introng> most aspects of normal bratrong>introng> function and can be perturbed trong>introng> many neuropathologic conditions. The metabotropic glutamate trong>receptortrong>s are a family of G protetrong>introng>-coupled trong>receptortrong>s, that have been divided trong>introng>to 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I trong>introng>cludes GRM1 and GRM5 and these trong>receptortrong>s have been shown to activate phospholipase C. Group II trong>introng>cludes GRM2 and GRM3 while Group III trong>introng>cludes GRM4, GRM6, GRM7 and GRM8. Group II and III trong>receptortrong>s are ltrong>introng>ked to the trong>introng>hibition of the cyclic AMP cascade but differ trong>introng> their agonist selectivities. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily E, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily E, member 1 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily C, member 4 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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nuclear trong>receptortrong> subfamily 2, group F, member 6
Enables DNA-btrong>introng>dtrong>introng>g transcription factor activity and sequence-specific double-stranded DNA btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> negative regulation of transcription by RNA polymerase II. Located trong>introng> nucleus. [provided by Alliance of Genome Resources, Mar 2025]
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nuclear trong>receptortrong> subfamily 2, group F, member 1
The protetrong>introng> encoded by this gene is a nuclear hormone trong>receptortrong> and transcriptional regulator. The encoded protetrong>introng> acts as a homodimer and btrong>introng>ds to 5'-AGGTCA-3' repeats. Defects trong>introng> this gene are a cause of Bosch-Boonstra optic atrophy syndrome (BBOAS). [provided by RefSeq, Apr 2014]
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nuclear trong>receptortrong> subfamily 2, group F, member 2
This gene encodes a member of the steroid thyroid hormone superfamily of nuclear trong>receptortrong>s. The encoded protetrong>introng> is a ligand trong>introng>ducible transcription factor that is trong>introng>volved trong>introng> the regulation of many different genes. Alternate splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Mar 2010]
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olfactory trong>receptortrong>, family 4, subfamily C, member 46
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily C, member 45
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 1, subfamily R, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 8, subfamily B, member 7 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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taste trong>receptortrong>, type 2, member 62, pseudogene
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olfactory trong>receptortrong>, family 4, subfamily K, member 7 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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G protetrong>introng>-coupled trong>receptortrong> 79, pseudogene
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G protetrong>introng>-coupled trong>receptortrong> 78
The protetrong>introng> encoded by this gene belongs to the G protetrong>introng>-coupled trong>receptortrong> family, which contatrong>introng> 7 transmembrane domatrong>introng>s and transduce extracellular signals through heterotrimeric G protetrong>introng>s. This is an orphan trong>receptortrong>, which displays significant level of constitutive activity. Association analysis shows prelimtrong>introng>ary evidence for the trong>introng>volvement of this gene trong>introng> susceptibility to bipolar affective disorder and schizophrenia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2011]
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G protetrong>introng>-coupled trong>receptortrong> 160 pseudogene
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thyroid stimulattrong>introng>g hormone trong>receptortrong>
The protetrong>introng> encoded by this gene is a membrane protetrong>introng> and a major controller of thyroid cell metabolism. The encoded protetrong>introng> is a trong>receptortrong> for thyrothroptrong>introng> and thyrostimultrong>introng>, and its activity is mediated by adenylate cyclase. Defects trong>introng> this gene are a cause of several types of hyperthyroidism. Three transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
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olfactory trong>receptortrong>, family 14, subfamily I, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily X, member 1 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jul 2015]
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olfactory trong>receptortrong>, family 4, subfamily X, member 2 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jun 2015]
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olfactory trong>receptortrong>, family 10, subfamily J, member 9 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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signal recognition particle trong>receptortrong>, B subunit
The protetrong>introng> encoded by this gene has similarity to mouse protetrong>introng> which is a subunit of the signal recognition particle trong>receptortrong> (SR). This subunit is a transmembrane GTPase belongtrong>introng>g to the GTPase superfamily. It anchors alpha subunit, a peripheral membrane GTPase, to the ER membrane. SR is required for the cotranslational targettrong>introng>g of both secretory and membrane protetrong>introng>s to the ER membrane. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 116 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 53 pseudogene
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trong>introng>terleuktrong>introng> 23 trong>receptortrong>
The protetrong>introng> encoded by this gene is a subunit of the trong>receptortrong> for IL23A/IL23. This protetrong>introng> pairs with the trong>receptortrong> molecule IL12RB1/IL12Rtrong>betatrong>1, and both are required for IL23A signaltrong>introng>g. This protetrong>introng> associates constitutively with Janus ktrong>introng>ase 2 (JAK2), and also btrong>introng>ds to transcription activator STAT3 trong>introng> a ligand-dependent manner. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 6, subfamily C, member 64 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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G protetrong>introng>-coupled trong>receptortrong> ktrong>introng>ase 6 pseudogene 1
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olfactory trong>receptortrong>, family 5, subfamily AS, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily AZ, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 98 pseudogene
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olfactory trong>receptortrong>, family 11, subfamily J, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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cytoktrong>introng>e trong>receptortrong>-like factor 3 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily J, member 3 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily Y, member 1 pseudogene
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proltrong>introng>e-rich nuclear trong>receptortrong> coactivator 2 pseudogene
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olfactory trong>receptortrong>, family 7, subfamily E, member 4 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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trong>receptortrong> (G protetrong>introng>-coupled) activity modifytrong>introng>g protetrong>introng> 1
The protetrong>introng> encoded by this gene is a member of the RAMP family of strong>introng>gle-transmembrane-domatrong>introng> protetrong>introng>s, called trong>receptortrong> (calcitontrong>introng>) activity modifytrong>introng>g protetrong>introng>s (RAMPs). RAMPs are type I transmembrane protetrong>introng>s with an extracellular N termtrong>introng>us and a cytoplasmic C termtrong>introng>us. RAMPs are required to transport calcitontrong>introng>-trong>receptortrong>-like trong>receptortrong> (CRLR) to the plasma membrane. CRLR, a trong>receptortrong> with seven transmembrane domatrong>introng>s, can function as either a calcitontrong>introng>-gene-related peptide (CGRP) trong>receptortrong> or an adrenomedulltrong>introng> trong>receptortrong>, dependtrong>introng>g on which members of the RAMP family are expressed. trong>Introng> the presence of this (RAMP1) protetrong>introng>, CRLR functions as a CGRP trong>receptortrong>. The RAMP1 protetrong>introng> is trong>introng>volved trong>introng> the termtrong>introng>al glycosylation, maturation, and presentation of the CGRP trong>receptortrong> to the cell surface. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g different isoforms. [provided by RefSeq, Apr 2015]
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trong>receptortrong> (G protetrong>introng>-coupled) activity modifytrong>introng>g protetrong>introng> 3
The protetrong>introng> encoded by this gene is a member of the RAMP family of strong>introng>gle-transmembrane-domatrong>introng> protetrong>introng>s, called trong>receptortrong> (calcitontrong>introng>) activity modifytrong>introng>g protetrong>introng>s (RAMPs). RAMPs are type I transmembrane protetrong>introng>s with an extracellular N termtrong>introng>us and a cytoplasmic C termtrong>introng>us. RAMPs are required to transport calcitontrong>introng>-trong>receptortrong>-like trong>receptortrong> (CRLR) to the plasma membrane. CRLR, a trong>receptortrong> with seven transmembrane domatrong>introng>s, can function as either a calcitontrong>introng>-gene-related peptide (CGRP) trong>receptortrong> or an adrenomedulltrong>introng> trong>receptortrong>, dependtrong>introng>g on which members of the RAMP family are expressed. trong>Introng> the presence of this (RAMP3) protetrong>introng>, CRLR functions as an adrenomedulltrong>introng> trong>receptortrong>. [provided by RefSeq, Jul 2008]
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trong>receptortrong> (G protetrong>introng>-coupled) activity modifytrong>introng>g protetrong>introng> 2
The protetrong>introng> encoded by this gene is a member of the RAMP family of strong>introng>gle-transmembrane-domatrong>introng> protetrong>introng>s, called trong>receptortrong> (calcitontrong>introng>) activity modifytrong>introng>g protetrong>introng>s (RAMPs). RAMPs are type I transmembrane protetrong>introng>s with an extracellular N termtrong>introng>us and a cytoplasmic C termtrong>introng>us. RAMPs are required to transport calcitontrong>introng>-trong>receptortrong>-like trong>receptortrong> (CRLR) to the plasma membrane. CRLR, a trong>receptortrong> with seven transmembrane domatrong>introng>s, can function as either a calcitontrong>introng>-gene-related peptide (CGRP) trong>receptortrong> or an adrenomedulltrong>introng> trong>receptortrong>, dependtrong>introng>g on which members of the RAMP family are expressed. trong>Introng> the presence of this (RAMP2) protetrong>introng>, CRLR functions as an adrenomedulltrong>introng> trong>receptortrong>. The RAMP2 protetrong>introng> is trong>introng>volved trong>introng> core glycosylation and transportation of adrenomedulltrong>introng> trong>receptortrong> to the cell surface. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily H, member 3 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 6, subfamily L, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily D, member 2 pseudogene
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trong>introng>sultrong>introng> trong>receptortrong> substrate 3, pseudogene
Predicted to enable phosphatidyltrong>introng>ositol 3-ktrong>introng>ase activator activity and phosphatidyltrong>introng>ositol 3-ktrong>introng>ase btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> positive regulation of phosphatidyltrong>introng>ositol 3-ktrong>introng>ase/protetrong>introng> ktrong>introng>ase B signal transduction. Predicted to be located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong>, family 8, subfamily K, member 5
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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nuclear trong>receptortrong> subfamily 4, group A, member 2
This gene encodes a member of the steroid-thyroid hormone-rettrong>introng>oid trong>receptortrong> superfamily. The encoded protetrong>introng> may act as a transcription factor. Mutations trong>introng> this gene have been associated with disorders related to dopamtrong>introng>ergic dysfunction, trong>introng>cludtrong>introng>g Parktrong>introng>son disease, schizophernia, and manic depression. Misregulation of this gene may be associated with rheumatoid arthritis. Alternatively spliced transcript variants have been described, but their biological validity has not been determtrong>introng>ed. [provided by RefSeq, Jul 2008]
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nuclear trong>receptortrong> subfamily 4, group A, member 3
This gene encodes a member of the steroid-thyroid hormone-rettrong>introng>oid trong>receptortrong> superfamily. The encoded protetrong>introng> may act as a transcriptional activator. The protetrong>introng> can efficiently btrong>introng>d the NGFI-B Response Element (NBRE). Three different versions of extraskeletal myxoid chondrosarcomas (EMCs) are the result of reciprocal translocations between this gene and other genes. The translocation breakpotrong>introng>ts are associated with Nuclear trong>Receptortrong> Subfamily 4, Group A, Member 3 (on chromosome 9) and either Ewtrong>introng>g Sarcome Breakpotrong>introng>t Region 1 (on chromosome 22), RNA Polymerase II, TATA Box-Btrong>introng>dtrong>introng>g Protetrong>introng>-Associated Factor, 68-KD (on chromosome 17), or Transcription factor 12 (on chromosome 15). Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
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nuclear trong>receptortrong> subfamily 4, group A, member 1
This gene encodes a member of the steroid-thyroid hormone-rettrong>introng>oid trong>receptortrong> superfamily. Expression is trong>introng>duced by phytohemaggluttrong>introng>trong>introng> trong>introng> human lymphocytes and by serum stimulation of arrested fibroblasts. The encoded protetrong>introng> acts as a nuclear transcription factor. Translocation of the protetrong>introng> from the nucleus to mitochondria trong>introng>duces apoptosis. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
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olfactory trong>receptortrong>, family 6, subfamily J, member 1 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jan 2017]
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G protetrong>introng>-coupled trong>receptortrong> 153
This gene encodes an trong>introng>tegral membrane protetrong>introng> that belongs to the Class A rhodopstrong>introng> superfamily of G protetrong>introng> coupled trong>receptortrong>s. The encoded protetrong>introng> is expressed primarily trong>introng> the central nervous system. A knockdown of the orthologous gene trong>introng> rat is associated with a significant reduction trong>introng> food trong>introng>take and impaired decision maktrong>introng>g ability. Mutations trong>introng> this gene are associated with schizophrenia, autism, and other neuropsychiatric disorders. The expression of this gene is activated by the glioma-associated oncogene homolog 1 transcription factor which, trong>introng> turn, is activated by sonic hedgehog trong>introng> normal and tumorigenic cells. [provided by RefSeq, Feb 2017]
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olfactory trong>receptortrong>, family 7, subfamily E, member 23 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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EPH trong>receptortrong> B2
This gene encodes a member of the Eph trong>receptortrong> family of trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase transmembrane glycoprotetrong>introng>s. These trong>receptortrong>s are composed of an N-termtrong>introng>al glycosylated ligand-btrong>introng>dtrong>introng>g domatrong>introng>, a transmembrane region and an trong>introng>tracellular ktrong>introng>ase domatrong>introng>. They btrong>introng>d ligands called ephrtrong>introng>s and are trong>introng>volved trong>introng> diverse cellular processes trong>introng>cludtrong>introng>g motility, division, and differentiation. A disttrong>introng>guishtrong>introng>g characteristic of Eph-ephrtrong>introng> signaltrong>introng>g is that both trong>receptortrong>s and ligands are competent to transduce a signaltrong>introng>g cascade, resulttrong>introng>g trong>introng> bidirectional signaltrong>introng>g. This protetrong>introng> belongs to a subgroup of the Eph trong>receptortrong>s called EphB. Protetrong>introng>s of this subgroup are disttrong>introng>guished from other members of the family by sequence homology and preferential btrong>introng>dtrong>introng>g afftrong>introng>ity for membrane-bound ephrtrong>introng>-B ligands. Allelic variants are associated with prostate and bratrong>introng> cancer susceptibility. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, May 2015]
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EPH trong>receptortrong> B3
Ephrtrong>introng> trong>receptortrong>s and their ligands, the ephrtrong>introng>s, mediate numerous developmental processes, particularly trong>introng> the nervous system. Based on their structures and sequence relationships, ephrtrong>introng>s are divided trong>introng>to the ephrtrong>introng>-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidyltrong>introng>ositol ltrong>introng>kage, and the ephrtrong>introng>-B (EFNB) class, which are transmembrane protetrong>introng>s. The Eph family of trong>receptortrong>s are divided trong>introng>to two groups based on the similarity of their extracellular domatrong>introng> sequences and their afftrong>introng>ities for btrong>introng>dtrong>introng>g ephrtrong>introng>-A and ephrtrong>introng>-B ligands. Ephrtrong>introng> trong>receptortrong>s make up the largest subgroup of the trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase (RTK) family. This gene encodes a trong>receptortrong> for ephrtrong>introng>-B family members. [provided by RefSeq, Mar 2010]
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EPH trong>receptortrong> B1
Ephrtrong>introng> trong>receptortrong>s and their ligands, the ephrtrong>introng>s, mediate numerous developmental processes, particularly trong>introng> the nervous system. Based on their structures and sequence relationships, ephrtrong>introng>s are divided trong>introng>to the ephrtrong>introng>-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidyltrong>introng>ositol ltrong>introng>kage, and the ephrtrong>introng>-B (EFNB) class, which are transmembrane protetrong>introng>s. The Eph family of trong>receptortrong>s are divided trong>introng>to 2 groups based on the similarity of their extracellular domatrong>introng> sequences and their afftrong>introng>ities for btrong>introng>dtrong>introng>g ephrtrong>introng>-A and ephrtrong>introng>-B ligands. Ephrtrong>introng> trong>receptortrong>s make up the largest subgroup of the trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase (RTK) family. The protetrong>introng> encoded by this gene is a trong>receptortrong> for ephrtrong>introng>-B family members. [provided by RefSeq, Jul 2008]
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EPH trong>receptortrong> B6
This gene encodes a member of a family of transmembrane protetrong>introng>s that function as trong>receptortrong>s for ephrtrong>introng>-B family protetrong>introng>s. Unlike other members of this family, the encoded protetrong>introng> does not contatrong>introng> a functional ktrong>introng>ase domatrong>introng>. Activity of this protetrong>introng> can trong>introng>fluence cell adhesion and migration. Expression of this gene is downregulated durtrong>introng>g tumor progression, suggesttrong>introng>g that the protetrong>introng> may suppress tumor trong>introng>vasion and metastasis. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jul 2013]
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EPH trong>receptortrong> B4
Ephrtrong>introng> trong>receptortrong>s and their ligands, the ephrtrong>introng>s, mediate numerous developmental processes, particularly trong>introng> the nervous system. Based on their structures and sequence relationships, ephrtrong>introng>s are divided trong>introng>to the ephrtrong>introng>-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidyltrong>introng>ositol ltrong>introng>kage, and the ephrtrong>introng>-B (EFNB) class, which are transmembrane protetrong>introng>s. The Eph family of trong>receptortrong>s are divided trong>introng>to 2 groups based on the similarity of their extracellular domatrong>introng> sequences and their afftrong>introng>ities for btrong>introng>dtrong>introng>g ephrtrong>introng>-A and ephrtrong>introng>-B ligands. Ephrtrong>introng> trong>receptortrong>s make up the largest subgroup of the trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase (RTK) family. The protetrong>introng> encoded by this gene btrong>introng>ds to ephrtrong>introng>-B2 and plays an essential role trong>introng> vascular development. [provided by RefSeq, Jul 2008]
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ryanodtrong>introng>e trong>receptortrong> 2 (cardiac)
This gene encodes a ryanodtrong>introng>e trong>receptortrong> found trong>introng> cardiac muscle sarcoplasmic reticulum. The encoded protetrong>introng> is one of the components of a calcium channel, composed of a tetramer of the ryanodtrong>introng>e trong>receptortrong> protetrong>introng>s and a tetramer of FK506 btrong>introng>dtrong>introng>g protetrong>introng> 1B protetrong>introng>s, that supplies calcium to cardiac muscle. Mutations trong>introng> this gene are associated with stress-trong>introng>duced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008]
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trong>introng>ositol 1,4,5-trisphosphate trong>receptortrong> trong>introng>teracttrong>introng>g protetrong>introng>-like 2
Predicted to be located trong>introng> membrane. [provided by Alliance of Genome Resources, Mar 2025]
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trong>introng>ositol 1,4,5-trisphosphate trong>receptortrong> trong>introng>teracttrong>introng>g protetrong>introng>-like 1
Enables trong>receptortrong> ligand activity. trong>Introng>volved trong>introng> negative regulation of T cell trong>receptortrong> signaltrong>introng>g pathway. Located trong>introng> membrane. Is active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong>, family 13, subfamily Z, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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melanocorttrong>introng> 2 trong>receptortrong> (adrenocorticotropic hormone)
MC2R encodes one member of the five-member G-protetrong>introng> associated melanocorttrong>introng> trong>receptortrong> family. Melanocorttrong>introng>s (melanocyte-stimulattrong>introng>g hormones and adrenocorticotropic hormone) are peptides derived from pro-opiomelanocorttrong>introng> (POMC). MC2R is selectively activated by adrenocorticotropic hormone, whereas the other four melanocorttrong>introng> trong>receptortrong>s recognize a variety of melanocorttrong>introng> ligands. Mutations trong>introng> MC2R can result trong>introng> familial glucocorticoid deficiency. Alternate transcript variants have been found for this gene. [provided by RefSeq, May 2014]
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olfactory trong>receptortrong>, family 1, subfamily AB, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 56, subfamily A, member 5
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Mar 2009]
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oncostattrong>introng> M trong>receptortrong>
This gene encodes a member of the type I cytoktrong>introng>e trong>receptortrong> family. The encoded protetrong>introng> heterodimerizes with trong>introng>terleuktrong>introng> 6 signal transducer to form the type II oncostattrong>introng> M trong>receptortrong> and with trong>introng>terleuktrong>introng> 31 trong>receptortrong> A to form the trong>introng>terleuktrong>introng> 31 trong>receptortrong>, and thus transduces oncostattrong>introng> M and trong>introng>terleuktrong>introng> 31 trong>introng>duced signaltrong>introng>g events. Mutations trong>introng> this gene have been associated with familial primary localized cutaneous amyloidosis. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
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trong>introng>terleuktrong>introng> 18 trong>receptortrong> 1
The protetrong>introng> encoded by this gene is a cytoktrong>introng>e trong>receptortrong> that belongs to the trong>introng>terleuktrong>introng> 1 trong>receptortrong> family. This trong>receptortrong> specifically btrong>introng>ds trong>introng>terleuktrong>introng> 18 (IL18), and is essential for IL18 mediated signal transduction. IFN-alpha and IL12 are reported to trong>introng>duce the expression of this trong>receptortrong> trong>introng> NK and T cells. This gene along with four other members of the trong>introng>terleuktrong>introng> 1 trong>receptortrong> family, trong>introng>cludtrong>introng>g IL1R2, IL1R1, ILRL2 (IL-1Rrp2), and IL1RL1 (T1/ST2), form a gene cluster on chromosome 2q. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
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GABA(A) trong>receptortrong>-associated protetrong>introng>
Gamma-amtrong>introng>obutyric acid A trong>receptortrong>s [GABA(A) trong>receptortrong>s] are ligand-gated chloride channels that mediate trong>introng>hibitory neurotransmission. This gene encodes GABA(A) trong>receptortrong>-associated protetrong>introng>, which is highly positively charged trong>introng> its N-termtrong>introng>us and shares sequence similarity with light trong>chatrong>introng>trong>-3 of microtubule-associated protetrong>introng>s 1A and 1B. This protetrong>introng> clusters neurotransmitter trong>receptortrong>s by mediattrong>introng>g trong>introng>teraction with the cytoskeleton. [provided by RefSeq, Jul 2008]
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choltrong>introng>ergic trong>receptortrong>, nicottrong>introng>ic, alpha 10 (neuronal)
Predicted to enable acetylcholtrong>introng>e-gated monoatomic cation-selective channel activity. Acts upstream of or withtrong>introng> positive regulation of cytosolic calcium ion concentration. Predicted to be located trong>introng> membrane. Predicted to be part of transmembrane transporter complex. Predicted to be active trong>introng> choltrong>introng>ergic synapse; neuron projection; and postsynaptic specialization membrane. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong>, family 4, subfamily A, member 48 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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mannose-6-phosphate trong>receptortrong> (cation dependent) pseudogene
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rettrong>introng>oid X trong>receptortrong>, gamma
This gene encodes a member of the rettrong>introng>oid X trong>receptortrong> (RXR) family of nuclear trong>receptortrong>s which are trong>introng>volved trong>introng> mediattrong>introng>g the antiproliferative effects of rettrong>introng>oic acid (RA). This trong>receptortrong> forms dimers with the rettrong>introng>oic acid, thyroid hormone, and vitamtrong>introng> D trong>receptortrong>s, trong>introng>creastrong>introng>g both DNA btrong>introng>dtrong>introng>g and transcriptional function on their respective response elements. This gene is expressed at significantly lower levels trong>introng> non-small cell lung cancer cells. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2010]
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rettrong>introng>oid X trong>receptortrong>, alpha
Rettrong>introng>oid X trong>receptortrong>s (RXRs) and rettrong>introng>oic acid trong>receptortrong>s (RARs) are nuclear trong>receptortrong>s that mediate the biological effects of rettrong>introng>oids by their trong>introng>volvement trong>introng> rettrong>introng>oic acid-mediated gene activation. These trong>receptortrong>s function as transcription factors by btrong>introng>dtrong>introng>g as homodimers or heterodimers to specific sequences trong>introng> the promoters of target genes. The protetrong>introng> encoded by this gene is a member of the steroid and thyroid hormone trong>receptortrong> superfamily of transcriptional regulators. Alternative splictrong>introng>g of this gene results trong>introng> multiple transcript variants. [provided by RefSeq, May 2014]
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olfactory trong>receptortrong>, family 51, subfamily A, member 6 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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trong>receptortrong> (chemosensory) transporter protetrong>introng> 4
Predicted to enable olfactory trong>receptortrong> btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> detection of chemical stimulus trong>introng>volved trong>introng> sensory perception of bitter taste and protetrong>introng> targettrong>introng>g to membrane. Located trong>introng> cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]
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trong>receptortrong> (chemosensory) transporter protetrong>introng> 5 (putative)
Predicted to enable olfactory trong>receptortrong> btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> detection of chemical stimulus trong>introng>volved trong>introng> sensory perception of bitter taste; protetrong>introng> trong>introng>sertion trong>introng>to membrane; and protetrong>introng> targettrong>introng>g to membrane. Predicted to be located trong>introng> membrane. [provided by Alliance of Genome Resources, Mar 2025]
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trong>receptortrong> (chemosensory) transporter protetrong>introng> 2
Enables olfactory trong>receptortrong> btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> protetrong>introng> trong>introng>sertion trong>introng>to membrane. Located trong>introng> cell surface. [provided by Alliance of Genome Resources, Mar 2025]
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trong>receptortrong> (chemosensory) transporter protetrong>introng> 3
Predicted to enable olfactory trong>receptortrong> btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> detection of chemical stimulus trong>introng>volved trong>introng> sensory perception of bitter taste and protetrong>introng> targettrong>introng>g to membrane. Located trong>introng> cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]
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trong>receptortrong> (chemosensory) transporter protetrong>introng> 1
Enables olfactory trong>receptortrong> btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> protetrong>introng> trong>introng>sertion trong>introng>to membrane. Located trong>introng> cell surface. [provided by Alliance of Genome Resources, Mar 2025]
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neuromedtrong>introng> U trong>receptortrong> 2
This gene encodes a protetrong>introng> from the G-protetrong>introng> coupled trong>receptortrong> 1 family. This protetrong>introng> is a trong>receptortrong> for neuromedtrong>introng> U, which is a neuropeptide that is widely distributed trong>introng> the gut and central nervous system. This trong>receptortrong> plays an important role trong>introng> the regulation of food trong>introng>take and body weight. [provided by RefSeq, Jul 2008]
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neuromedtrong>introng> U trong>receptortrong> 1
Enables neuromedtrong>introng> U btrong>introng>dtrong>introng>g activity and neuromedtrong>introng> U trong>receptortrong> activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g calcium-mediated signaltrong>introng>g; chloride transport; and positive regulation of calcium-mediated signaltrong>introng>g. Located trong>introng> membrane. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong>, family 7, subfamily E, member 104 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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cytoktrong>introng>e trong>receptortrong>-like factor 3 pseudogene
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very low density lipoprotetrong>introng> trong>receptortrong>
The low density lipoprotetrong>introng> trong>receptortrong> (LDLR) gene family consists of cell surface protetrong>introng>s trong>introng>volved trong>introng> trong>receptortrong>-mediated endocytosis of specific ligands. This gene encodes a lipoprotetrong>introng> trong>receptortrong> that is a member of the LDLR family and plays important roles trong>introng> VLDL-triglyceride metabolism and the reeltrong>introng> signaltrong>introng>g pathway. Mutations trong>introng> this gene cause VLDLR-associated cerebellar hypoplasia. Alternative splictrong>introng>g generates multiple transcript variants encodtrong>introng>g disttrong>introng>ct isoforms for this gene. [provided by RefSeq, Aug 2009]
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natural cytotoxicity triggertrong>introng>g trong>receptortrong> 2
Predicted to enable signaltrong>introng>g trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> cellular defense response and signal transduction. Predicted to be located trong>introng> plasma membrane. Predicted to be active trong>introng> cell surface. [provided by Alliance of Genome Resources, Mar 2025]
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vomeronasal 2 trong>receptortrong> 19 pseudogene
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macrophage trong>receptortrong> MARCO-like
Predicted to be an extracellular matrix structural constituent conferrtrong>introng>g tensile strength. Predicted to be trong>introng>volved trong>introng> extracellular matrix organization. Predicted to be active trong>introng> collagen-contatrong>introng>trong>introng>g extracellular matrix and extracellular space. [provided by Alliance of Genome Resources, Mar 2025]
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MAS1 proto-oncogene, G protetrong>introng>-coupled trong>receptortrong>
This gene encodes a class I seven-transmembrane G-protetrong>introng>-coupled trong>receptortrong>. The encoded protetrong>introng> is a trong>receptortrong> for angiotenstrong>introng>-(1-7) and preferentially couples to the Gq protetrong>introng>, activattrong>introng>g the phospholipase C signaltrong>introng>g pathway. The encoded protetrong>introng> may play a role trong>introng> multiple processes trong>introng>cludtrong>introng>g hypotension, smooth muscle relaxation and cardioprotection by mediattrong>introng>g the effects of angiotenstrong>introng>-(1-7). [provided by RefSeq, May 2012]
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olfactory trong>receptortrong>, family 4, subfamily G, member 3 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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5-hydroxytryptamtrong>introng>e (serotontrong>introng>) trong>receptortrong> 1D pseudogene 1
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olfactory trong>receptortrong>, family 5, subfamily D, member 15 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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peroxisome proliferator-activated trong>receptortrong> gamma, coactivator-related 1
The protetrong>introng> encoded by this gene is similar to PPAR-gamma coactivator 1 (PPARGC1/PGC-1), a protetrong>introng> that can activate mitochondrial biogenesis trong>introng> part through a direct trong>introng>teraction with nuclear respiratory factor 1 (NRF1). This protetrong>introng> has been shown to trong>introng>teract with NRF1. It is thought to be a functional relative of PPAR-gamma coactivator 1 that activates mitochondrial biogenesis through NRF1 trong>introng> response to proliferative signals. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Dec 2013]
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olfactory trong>receptortrong>, family 5, subfamily M, member 10
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily M, member 11
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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taste trong>receptortrong>, type 2, member 7 pseudogene
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taste trong>receptortrong>, type 2, member 7 pseudogene
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anthrax toxtrong>introng> trong>receptortrong>-like pseudogene 1
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taste trong>receptortrong>, type 2, member 12, pseudogene
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olfactory trong>receptortrong>, family 4, subfamily P, member 4
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily D, member 8 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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gastrtrong>introng>-releastrong>introng>g peptide trong>receptortrong>
Gastrtrong>introng>-releastrong>introng>g peptide (GRP) regulates numerous functions of the gastrotrong>introng>testtrong>introng>al and central nervous systems, trong>introng>cludtrong>introng>g release of gastrotrong>introng>testtrong>introng>al hormones, smooth muscle cell contraction, and epithelial cell proliferation and is a potent mitogen for neoplastic tissues. The effects of GRP are mediated through the gastrtrong>introng>-releastrong>introng>g peptide trong>receptortrong>. This trong>receptortrong> is a glycosylated, 7-transmembrane G-protetrong>introng> coupled trong>receptortrong> that activates the phospholipase C signaltrong>introng>g pathway. The trong>receptortrong> is aberrantly expressed trong>introng> numerous cancers such as those of the lung, colon, and prostate. An trong>introng>dividual with autism and multiple exostoses was found to have a balanced translocation between chromosome 8 and a chromosome X breakpotrong>introng>t located withtrong>introng> the gastrtrong>introng>-releastrong>introng>g peptide trong>receptortrong> gene. [provided by RefSeq, Jul 2008]
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aryl hydrocarbon trong>receptortrong> trong>introng>teracttrong>introng>g protetrong>introng>-like 1
Leber congenital amaurosis (LCA) is the most severe trong>introng>herited rettrong>introng>opathy with the earliest age of onset and accounts for at least 5% of all trong>introng>herited rettrong>introng>al diseases. Affected trong>introng>dividuals are diagnosed at birth or trong>introng> the first few months of life with nystagmus, severely impaired vision or bltrong>introng>dness and an abnormal or flat electrorettrong>introng>ogram. The phototrong>receptortrong>/ptrong>introng>eal-expressed gene, AIPL1, encodtrong>introng>g aryl-hydrocarbon trong>introng>teracttrong>introng>g protetrong>introng>-like 1, is located withtrong>introng> the LCA4 candidate region. The encoded protetrong>introng> contatrong>introng>s three tetratricopeptide motifs, consistent with chaperone or nuclear transport activity. Mutations trong>introng> this gene may cause approximately 20% of recessive LCA. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jan 2014]
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olfactory trong>receptortrong>, family 2, subfamily B, member 11
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily AN, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 90 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily H, member 4 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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neuropeptide Y trong>receptortrong> Y6 (pseudogene)
Predicted to enable neuropeptide btrong>introng>dtrong>introng>g activity and peptide YY trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> neuropeptide signaltrong>introng>g pathway. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> neuron projection and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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KISS1 trong>receptortrong>
The protetrong>introng> encoded by this gene is a galantrong>introng>-like G protetrong>introng>-coupled trong>receptortrong> that btrong>introng>ds metasttrong>introng>, a peptide encoded by the metastasis suppressor gene KISS1. The tissue distribution of the expressed gene suggests that it is trong>introng>volved trong>introng> the regulation of endocrtrong>introng>e function, and this is supported by the ftrong>introng>dtrong>introng>g that this gene appears to play a role trong>introng> the onset of puberty. Mutations trong>introng> this gene have been associated with hypogonadotropic hypogonadism and central precocious puberty. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily D, member 9
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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asialoglycoprotetrong>introng> trong>receptortrong> 1
This gene encodes a subunit of the asialoglycoprotetrong>introng> trong>receptortrong>. This trong>receptortrong> is a transmembrane protetrong>introng> that plays a critical role trong>introng> serum glycoprotetrong>introng> homeostasis by mediattrong>introng>g the endocytosis and lysosomal degradation of glycoprotetrong>introng>s with exposed termtrong>introng>al galactose or N-acetylgalactosamtrong>introng>e residues. The asialoglycoprotetrong>introng> trong>receptortrong> may facilitate hepatic trong>introng>fection by multiple viruses trong>introng>cludtrong>introng>g hepatitis B, and is also a target for liver-specific drug delivery. The asialoglycoprotetrong>introng> trong>receptortrong> is a hetero-oligomeric protetrong>introng> composed of major and mtrong>introng>or subunits, which are encoded by different genes. The protetrong>introng> encoded by this gene is the more abundant major subunit. Alternatively spliced transcript variants encodtrong>introng>g multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
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asialoglycoprotetrong>introng> trong>receptortrong> 2
This gene encodes a subunit of the asialoglycoprotetrong>introng> trong>receptortrong>. This trong>receptortrong> is a transmembrane protetrong>introng> that plays a critical role trong>introng> serum glycoprotetrong>introng> homeostasis by mediattrong>introng>g the endocytosis and lysosomal degradation of glycoprotetrong>introng>s with exposed termtrong>introng>al galactose or N-acetylgalactosamtrong>introng>e residues. The asialoglycoprotetrong>introng> trong>receptortrong> may facilitate hepatic trong>introng>fection by multiple viruses trong>introng>cludtrong>introng>g hepatitis B, and is also a target for liver-specific drug delivery. The asialoglycoprotetrong>introng> trong>receptortrong> is a hetero-oligomeric protetrong>introng> composed of major and mtrong>introng>or subunits, which are encoded by different genes. The protetrong>introng> encoded by this gene is the less abundant mtrong>introng>or subunit. Alternatively spliced transcript variants encodtrong>introng>g multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
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olfactory trong>receptortrong>, family 9, subfamily A, member 3 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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triggertrong>introng>g trong>receptortrong> expressed on myeloid cells 1-like
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nuclear trong>receptortrong> btrong>introng>dtrong>introng>g factor 2 pseudogene 1
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nuclear trong>receptortrong> btrong>introng>dtrong>introng>g factor 2 pseudogene 3
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nuclear trong>receptortrong> btrong>introng>dtrong>introng>g factor 2 pseudogene 2
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olfactory trong>receptortrong>, family 2, subfamily W, member 1 pseudogene
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olfactory trong>receptortrong>, family 10, subfamily D, member 3 (non-functional)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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galantrong>introng> trong>receptortrong> 3
The neuropeptide galantrong>introng> modulates a variety of physiologic processes trong>introng>cludtrong>introng>g cognition/memory, sensory/patrong>introng> processtrong>introng>g, hormone secretion, and feedtrong>introng>g behavior. The human galantrong>introng> trong>receptortrong>s are G protetrong>introng>-coupled trong>receptortrong>s that functionally couple to their trong>introng>tracellular effector through disttrong>introng>ct signaltrong>introng>g pathways. GALR3 is found trong>introng> many tissues and may be expressed as 1.4-, 2.4-, and 5-kb transcripts [provided by RefSeq, Jul 2008]
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galantrong>introng> trong>receptortrong> 2
Galantrong>introng> is an important neuromodulator present trong>introng> the bratrong>introng>, gastrotrong>introng>testtrong>introng>al system, and hypothalamopituitary axis. It is a 30-amtrong>introng>o acid non-C-termtrong>introng>ally amidated peptide that potently stimulates growth hormone secretion, trong>introng>hibits cardiac vagal slowtrong>introng>g of heart rate, abolishes strong>introng>us arrhythmia, and trong>introng>hibits postprandial gastrotrong>introng>testtrong>introng>al motility. The actions of galantrong>introng> are mediated through trong>introng>teraction with specific membrane trong>receptortrong>s that are members of the 7-transmembrane family of G protetrong>introng>-coupled trong>receptortrong>s. GALR2 trong>introng>teracts with the N-termtrong>introng>al residues of the galantrong>introng> peptide. The primary signaltrong>introng>g mechanism for GALR2 is through the phospholipase C/protetrong>introng> ktrong>introng>ase C pathway (via Gq), trong>introng> contrast to GALR1, which communicates its trong>introng>tracellular signal by trong>introng>hibition of adenylyl cyclase through Gi. However, it has been demonstrated that GALR2 couples efficiently to both the Gq and Gi protetrong>introng>s to simultaneously activate 2 trong>introng>dependent signal transduction pathways. [provided by RefSeq, Jul 2008]
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galantrong>introng> trong>receptortrong> 1
The neuropeptide galantrong>introng> elicits a range of biological effects by trong>introng>teraction with specific G-protetrong>introng>-coupled trong>receptortrong>s. Galantrong>introng> trong>receptortrong>s are seven-transmembrane protetrong>introng>s shown to activate a variety of trong>introng>tracellular second-messenger pathways. GALR1 trong>introng>hibits adenylyl cyclase via a G protetrong>introng> of the Gi/Go family. GALR1 is widely expressed trong>introng> the bratrong>introng> and sptrong>introng>al cord, as well as trong>introng> peripheral sites such as the small trong>introng>testtrong>introng>e and heart. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily C, member 10 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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mannose trong>receptortrong>, C type 1
The recognition of complex carbohydrate structures on glycoprotetrong>introng>s is an important part of several biological processes, trong>introng>cludtrong>introng>g cell-cell recognition, serum glycoprotetrong>introng> turnover, and neutralization of pathogens. The protetrong>introng> encoded by this gene is a type I membrane trong>receptortrong> that mediates the endocytosis of glycoprotetrong>introng>s by macrophages. The protetrong>introng> has been shown to btrong>introng>d high-mannose structures on the surface of potentially pathogenic viruses, bacteria, and fungi so that they can be neutralized by phagocytic engulfment.[provided by RefSeq, Sep 2015]
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olfactory trong>receptortrong>, family 4, subfamily B, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily G, member 4 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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MPL proto-oncogene, thrombopoiettrong>introng> trong>receptortrong>
trong>Introng> 1990 an oncogene, v-mpl, was identified from the murtrong>introng>e myeloproliferative leukemia virus that was capable of immortaliztrong>introng>g bone marrow hematopoietic cells from different ltrong>introng>eages. trong>Introng> 1992 the human homologue, named, c-mpl, was cloned. Sequence data revealed that c-mpl encoded a protetrong>introng> that was homologous with members of the hematopoietic trong>receptortrong> superfamily. Presence of anti-sense oligodeoxynucleotides of c-mpl trong>introng>hibited megakaryocyte colony formation. The ligand for c-mpl, thrombopoiettrong>introng>, was cloned trong>introng> 1994. Thrombopoiettrong>introng> was shown to be the major regulator of megakaryocytopoiesis and platelet formation. The protetrong>introng> encoded by the c-mpl gene, CD110, is a 635 amtrong>introng>o acid transmembrane domatrong>introng>, with two extracellular cytoktrong>introng>e trong>receptortrong> domatrong>introng>s and two trong>introng>tracellular cytoktrong>introng>e trong>receptortrong> box motifs . TPO-R deficient mice were severely thrombocytopenic, emphasiztrong>introng>g the important role of CD110 and thrombopoiettrong>introng> trong>introng> megakaryocyte and platelet formation. Upon btrong>introng>dtrong>introng>g of thrombopoiettrong>introng> CD110 is dimerized and the JAK family of non-trong>receptortrong> tyrostrong>introng>e ktrong>introng>ases, as well as the STAT family, the MAPK family, the adaptor protetrong>introng> Shc and the trong>receptortrong>s themselves become tyrostrong>introng>e phosphorylated. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 112 pseudogene
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glutamate trong>receptortrong>, ionotropic, N-methyl D-aspartate 2B
This gene encodes a member of the N-methyl-D-aspartate (NMDA) trong>receptortrong> family withtrong>introng> the ionotropic glutamate trong>receptortrong> superfamily. The encoded protetrong>introng> is a subunit of the NMDA trong>receptortrong> ion channel which acts as an agonist btrong>introng>dtrong>introng>g site for glutamate. The NMDA trong>receptortrong>s mediate a slow calcium-permeable component of excitatory synaptic transmission trong>introng> the central nervous system. The NMDA trong>receptortrong>s are heterotetramers of seven genetically encoded, differentially expressed subunits trong>introng>cludtrong>introng>g NR1 (GRIN1), NR2 (GRIN2A, GRIN2B, GRIN2C, or GRIN2D) and NR3 (GRIN3A or GRIN3B). The early expression of this gene trong>introng> development suggests a role trong>introng> bratrong>introng> development, circuit formation, synaptic plasticity, and cellular migration and differentiation. Naturally occurrtrong>introng>g mutations withtrong>introng> this gene are associated with neurodevelopmental disorders trong>introng>cludtrong>introng>g autism spectrum disorder, attention deficit hyperactivity disorder, epilepsy, and schizophrenia. [provided by RefSeq, Aug 2017]
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glutamate trong>receptortrong>, ionotropic, N-methyl D-aspartate 2C
This gene encodes a subunit of the N-methyl-D-aspartate (NMDA) trong>receptortrong>, which is a subtype of ionotropic glutamate trong>receptortrong>. NMDA trong>receptortrong>s are found trong>introng> the central nervous system, are permeable to cations and have an important role trong>introng> physiological processes such as learntrong>introng>g, memory, and synaptic development. The trong>receptortrong> is a tetramer of different subunits (typically heterodimer of subunit 1 with one or more of subunits 2A-D), formtrong>introng>g a channel that is permeable to calcium, potassium, and sodium, and whose properties are determtrong>introng>ed by subunit composition. Alterations trong>introng> the subunit composition of the trong>receptortrong> are associated with pathophysiological conditions such as Parktrong>introng>son's disease, Alzheimer's disease, depression, and schizophrenia. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jun 2013]
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glutamate trong>receptortrong>, ionotropic, N-methyl D-aspartate 2A
This gene encodes a member of the glutamate-gated ion channel protetrong>introng> family. The encoded protetrong>introng> is an N-methyl-D-aspartate (NMDA) trong>receptortrong> subunit. NMDA trong>receptortrong>s are both ligand-gated and voltage-dependent, and are trong>introng>volved trong>introng> long-term potentiation, an activity-dependent trong>introng>crease trong>introng> the efficiency of synaptic transmission thought to underlie certatrong>introng> ktrong>introng>ds of memory and learntrong>introng>g. These trong>receptortrong>s are permeable to calcium ions, and activation results trong>introng> a calcium trong>introng>flux trong>introng>to post-synaptic cells, which results trong>introng> the activation of several signaltrong>introng>g cascades. Disruption of this gene is associated with focal epilepsy and speech disorder with or without cognitive disability. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, May 2014]
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glutamate trong>receptortrong>, ionotropic, N-methyl D-aspartate 2D
N-methyl-D-aspartate (NMDA) trong>receptortrong>s are a class of ionotropic glutamate trong>receptortrong>s. NMDA channel has been shown to be trong>introng>volved trong>introng> long-term potentiation, an activity-dependent trong>introng>crease trong>introng> the efficiency of synaptic transmission thought to underlie certatrong>introng> ktrong>introng>ds of memory and learntrong>introng>g. NMDA trong>receptortrong> channels are heteromers composed of the key trong>receptortrong> subunit NMDAR1 (GRIN1) and 1 or more of the 4 NMDAR2 subunits: NMDAR2A (GRIN2A), NMDAR2B (GRIN2B), NMDAR2C (GRIN2C), and NMDAR2D (GRIN2D). [provided by RefSeq, Mar 2010]
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taste trong>receptortrong>, type 2, member 19
Predicted to enable G protetrong>introng>-coupled trong>receptortrong> activity and bitter taste trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway and detection of chemical stimulus trong>introng>volved trong>introng> sensory perception of bitter taste. Located trong>introng> membrane. [provided by Alliance of Genome Resources, Mar 2025]
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taste trong>receptortrong>, type 2, member 14
This gene product belongs to the family of candidate taste trong>receptortrong>s that are members of the G-protetrong>introng>-coupled trong>receptortrong> superfamily. These protetrong>introng>s are specifically expressed trong>introng> the taste trong>receptortrong> cells of the tongue and palate epithelia. They are organized trong>introng> the genome trong>introng> clusters and are genetically ltrong>introng>ked to loci that trong>introng>fluence bitter perception trong>introng> mice and humans. trong>Introng> functional expression studies, they respond to bitter tastants. This gene maps to the taste trong>receptortrong> gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]
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taste trong>receptortrong>, type 2, member 16
This gene encodes a member of a family of candidate taste trong>receptortrong>s that are members of the G protetrong>introng>-coupled trong>receptortrong> superfamily. These family members are specifically expressed by taste trong>receptortrong> cells of the tongue and palate epithelia. Each of these apparently trong>introng>tronless genes encodes a 7-transmembrane trong>receptortrong> protetrong>introng>, functiontrong>introng>g as a bitter taste trong>receptortrong>. This gene is clustered with another 3 candidate taste trong>receptortrong> genes trong>introng> chromosome 7 and is genetically ltrong>introng>ked to loci that trong>introng>fluence bitter perception. [provided by RefSeq, Jul 2008]
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taste trong>receptortrong>, type 2, member 10
This gene product belongs to the family of candidate taste trong>receptortrong>s that are members of the G-protetrong>introng>-coupled trong>receptortrong> superfamily. These protetrong>introng>s are specifically expressed trong>introng> the taste trong>receptortrong> cells of the tongue and palate epithelia. They are organized trong>introng> the genome trong>introng> clusters and are genetically ltrong>introng>ked to loci that trong>introng>fluence bitter perception trong>introng> mice and humans. trong>Introng> functional expression studies, they respond to bitter tastants. This gene maps to the taste trong>receptortrong> gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]
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taste trong>receptortrong>, type 2, member 13
This gene product belongs to the family of candidate taste trong>receptortrong>s that are members of the G-protetrong>introng>-coupled trong>receptortrong> superfamily. These protetrong>introng>s are specifically expressed trong>introng> the taste trong>receptortrong> cells of the tongue and palate epithelia. They are organized trong>introng> the genome trong>introng> clusters and are genetically ltrong>introng>ked to loci that trong>introng>fluence bitter perception trong>introng> mice and humans. trong>Introng> functional expression studies, they respond to bitter tastants. This gene maps to the taste trong>receptortrong> gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]
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glutamate trong>receptortrong>, metabotropic 8 pseudogene
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nuclear trong>receptortrong> corepressor 1 pseudogene 1
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nuclear trong>receptortrong> corepressor 1 pseudogene 3
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olfactory trong>receptortrong>, family 8, subfamily S, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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trong>introng>terleuktrong>introng> 2 trong>receptortrong>, alpha
The trong>introng>terleuktrong>introng> 2 (IL2) trong>receptortrong> alpha (IL2RA) and trong>betatrong> (IL2RB) trong>chatrong>introng>trong>s, together with the common gamma trong>chatrong>introng>trong> (IL2RG), constitute the high-afftrong>introng>ity IL2 trong>receptortrong>. Homodimeric alpha trong>chatrong>introng>trong>s (IL2RA) result trong>introng> low-afftrong>introng>ity trong>receptortrong>, while homodimeric trong>betatrong> (IL2RB) trong>chatrong>introng>trong>s produce a medium-afftrong>introng>ity trong>receptortrong>. Normally an trong>introng>tegral-membrane protetrong>introng>, soluble IL2RA has been isolated and determtrong>introng>ed to result from extracellular proteolyisis. Alternately-spliced IL2RA mRNAs have been isolated, but the significance of each is presently unknown. Mutations trong>introng> this gene are associated with trong>introng>terleuktrong>introng> 2 trong>receptortrong> alpha deficiency. Patients with severe Coronavirus Disease 2019 (COVID-19), the disease caused by the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), have significantly elevated levels of IL2R trong>introng> their plasma. Similarly, serum IL-2R levels are found to be elevated trong>introng> patients with different types of carctrong>introng>omas. Certatrong>introng> IL2RA and IL2RB gene polymorphisms have been associated with lung cancer risk. [provided by RefSeq, Jul 2020]
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trong>introng>terleuktrong>introng> 2 trong>receptortrong>, gamma
The protetrong>introng> encoded by this gene is an important signaltrong>introng>g component of many trong>introng>terleuktrong>introng> trong>receptortrong>s, trong>introng>cludtrong>introng>g those of trong>introng>terleuktrong>introng> -2, -4, -7 and -21, and is thus referred to as the common gamma trong>chatrong>introng>trong>. Mutations trong>introng> this gene cause X-ltrong>introng>ked severe combtrong>introng>ed immunodeficiency (XSCID), as well as X-ltrong>introng>ked combtrong>introng>ed immunodeficiency (XCID), a less severe immunodeficiency disorder. [provided by RefSeq, Mar 2010]
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olfactory trong>receptortrong>, family 4, subfamily A, member 40 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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trong>introng>terleuktrong>introng> 6 trong>receptortrong>
This gene encodes a subunit of the trong>introng>terleuktrong>introng> 6 (IL6) trong>receptortrong> complex. trong>Introng>terleuktrong>introng> 6 is a potent pleiotropic cytoktrong>introng>e that regulates cell growth and differentiation and plays an important role trong>introng> the immune response. The IL6 trong>receptortrong> is a protetrong>introng> complex consisttrong>introng>g of this protetrong>introng> and trong>introng>terleuktrong>introng> 6 signal transducer (IL6ST/GP130/IL6-trong>betatrong>), a trong>receptortrong> subunit also shared by many other cytoktrong>introng>es. Dysregulated production of IL6 and this trong>receptortrong> are implicated trong>introng> the pathogenesis of many diseases, such as multiple myeloma, autoimmune diseases and prostate cancer. Alternatively spliced transcript variants encodtrong>introng>g disttrong>introng>ct isoforms have been identified trong>introng> this gene. A pseudogene of this gene is found on chromosome 9. [provided by RefSeq, Aug 2020]
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olfactory trong>receptortrong>, family 2, subfamily N, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 9, subfamily A, member 2 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily A, member 5 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily F, member 1 pseudogene
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olfactory trong>receptortrong>, family 8, subfamily B, member 4 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily G, member 3
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily G, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily G, member 6
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 2 trong>receptortrong> 14 pseudogene
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vomeronasal 1 trong>receptortrong> 62 pseudogene
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triggertrong>introng>g trong>receptortrong> expressed on myeloid cells-like 2
TREML2 is located trong>introng> a gene cluster on chromosome 6 with the strong>introng>gle Ig variable (IgV) domatrong>introng> activattrong>introng>g trong>receptortrong>s TREM1 (MIM 605085) and TREM2 (MIM 605086), but it has disttrong>introng>ct structural and functional properties (Allcock et al., 2003 [PubMed 12645956]).[supplied by OMIM, Mar 2008]
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triggertrong>introng>g trong>receptortrong> expressed on myeloid cells-like 1
This gene encodes a member of the triggertrong>introng>g trong>receptortrong> expressed on myeloid cells-like (TREM) family. The encoded protetrong>introng> is a type 1 strong>introng>gle Ig domatrong>introng> orphan trong>receptortrong> localized to the alpha-granule membranes of platelets. The encoded protetrong>introng> is trong>introng>volved trong>introng> platelet aggregation, trong>introng>flammation, and cellular activation and has been ltrong>introng>ked to Gray platelet syndrome. Alternative splictrong>introng>g results trong>introng> multiple transcript variants [provided by RefSeq, Nov 2012]
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triggertrong>introng>g trong>receptortrong> expressed on myeloid cells-like 4
Predicted to enable signaltrong>introng>g trong>receptortrong> activity. trong>Introng>volved trong>introng> positive regulation of toll-like trong>receptortrong> 7 signaltrong>introng>g pathway. Predicted to be located trong>introng> endoplasmic reticulum; endosome membrane; and lysosomal membrane. Predicted to be active trong>introng> cell surface. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong>, family 52, subfamily E, member 3 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 110 pseudogene
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olfactory trong>receptortrong>, family 51, subfamily F, member 4 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 51, subfamily T, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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C1D nuclear trong>receptortrong> corepressor
The protetrong>introng> encoded by this gene is a DNA btrong>introng>dtrong>introng>g and apoptosis-trong>introng>ductrong>introng>g protetrong>introng> and is localized trong>introng> the nucleus. It is also a Rac3-trong>introng>teracttrong>introng>g protetrong>introng> which acts as a corepressor for the thyroid hormone trong>receptortrong>. This protetrong>introng> is thought to regulate TRAX/Transltrong>introng> complex formation. Alternate splictrong>introng>g results trong>introng> multiple transcript variants that encode the same protetrong>introng>. Multiple pseudogenes of this gene are found on chromosome 10.[provided by RefSeq, Jun 2010]
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olfactory trong>receptortrong>, family 52, subfamily J, member 3
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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G protetrong>introng>-coupled trong>receptortrong> 101
The protetrong>introng> encoded by this gene is an orphan G protetrong>introng>-coupled trong>receptortrong> of unknown function. The encoded protetrong>introng> is a member of a family of protetrong>introng>s that contatrong>introng> seven transmembrane domatrong>introng>s and transduce extracellular signals through heterotrimeric G protetrong>introng>s. [provided by RefSeq, Sep 2011]
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G protetrong>introng>-coupled trong>receptortrong> 107
Predicted to enable clathrtrong>introng> heavy trong>chatrong>introng>trong> btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> clathrtrong>introng>-dependent endocytosis. Located trong>introng> Golgi apparatus and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]
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G protetrong>introng>-coupled trong>receptortrong> 108
Predicted to be trong>introng>volved trong>introng> negative regulation of toll-like trong>receptortrong> signaltrong>introng>g pathway. Located trong>introng> trans-Golgi network. [provided by Alliance of Genome Resources, Mar 2025]
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gonadotroptrong>introng>-releastrong>introng>g hormone trong>receptortrong>
This gene encodes the trong>receptortrong> for type 1 gonadotroptrong>introng>-releastrong>introng>g hormone. This trong>receptortrong> is a member of the seven-transmembrane, G-protetrong>introng> coupled trong>receptortrong> (GPCR) family. It is expressed on the surface of pituitary gonadotrope cells as well as lymphocytes, breast, ovary, and prostate. Followtrong>introng>g btrong>introng>dtrong>introng>g of gonadotroptrong>introng>-releastrong>introng>g hormone, the trong>receptortrong> associates with G-protetrong>introng>s that activate a phosphatidyltrong>introng>ositol-calcium second messenger system. Activation of the trong>receptortrong> ultimately causes the release of gonadotropic lutetrong>introng>iztrong>introng>g hormone (LH) and follicle stimulattrong>introng>g hormone (FSH). Defects trong>introng> this gene are a cause of hypogonadotropic hypogonadism (HH). Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g different isoforms. More than 18 transcription trong>introng>itiation sites trong>introng> the 5' region and multiple polyA signals trong>introng> the 3' region have been identified for this gene. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily V, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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leuctrong>introng>e-rich repeat contatrong>introng>trong>introng>g G protetrong>introng>-coupled trong>receptortrong> 5
The protetrong>introng> encoded by this gene is a leuctrong>introng>e-rich repeat-contatrong>introng>trong>introng>g trong>receptortrong> (LGR) and member of the G protetrong>introng>-coupled, 7-transmembrane trong>receptortrong> (GPCR) superfamily. The encoded protetrong>introng> is a trong>receptortrong> for R-spondtrong>introng>s and is trong>introng>volved trong>introng> the canonical Wnt signaltrong>introng>g pathway. This protetrong>introng> plays a role trong>introng> the formation and matrong>introng>tenance of adult trong>introng>testtrong>introng>al stem cells durtrong>introng>g postembryonic development. Several transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
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leuctrong>introng>e-rich repeat contatrong>introng>trong>introng>g G protetrong>introng>-coupled trong>receptortrong> 4
The protetrong>introng> encoded by this gene is a G-protetrong>introng> coupled trong>receptortrong> that btrong>introng>ds R-spondtrong>introng>s and activates the Wnt signaltrong>introng>g pathway. This Wnt signaltrong>introng>g pathway activation is necessary for proper development of many organs of the body. [provided by RefSeq, Oct 2016]
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leuctrong>introng>e-rich repeat contatrong>introng>trong>introng>g G protetrong>introng>-coupled trong>receptortrong> 6
This gene encodes a member of the leuctrong>introng>e-rich repeat-contatrong>introng>trong>introng>g subgroup of the G protetrong>introng>-coupled 7-transmembrane protetrong>introng> superfamily. The encoded protetrong>introng> is a glycoprotetrong>introng> hormone trong>receptortrong> with a large N-termtrong>introng>al extracellular domatrong>introng> that contatrong>introng>s leuctrong>introng>e-rich repeats important for the formation of a horseshoe-shaped trong>introng>teraction motif for ligand btrong>introng>dtrong>introng>g. Alternative splictrong>introng>g of this gene results trong>introng> multiple transcript variants. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily C, member 9 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily I, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily L, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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scavenger trong>receptortrong> class F member 2-like
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very low density lipoprotetrong>introng> trong>receptortrong> pseudogene
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olfactory trong>receptortrong>, family 1, subfamily D, member 5
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 1, subfamily D, member 4 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jan 2017]
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olfactory trong>receptortrong>, family 1, subfamily D, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily J, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 11, subfamily H, member 4 pseudogene
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olfactory trong>receptortrong>, family 13, subfamily H, member 1 pseudogene
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olfactory trong>receptortrong>, family 11, subfamily A, member 1 pseudogene
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olfactory trong>receptortrong>, family 7, subfamily E, member 163, pseudogene
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transferrtrong>introng> trong>receptortrong>
This gene encodes a cell surface trong>receptortrong> necessary for cellular iron uptake by the process of trong>receptortrong>-mediated endocytosis. This trong>receptortrong> is required for erythropoiesis and neurologic development. Multiple alternatively spliced variants have been identified. [provided by RefSeq, Sep 2015]
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transferrtrong>introng> trong>receptortrong> 2
This gene encodes a strong>introng>gle-pass type II membrane protetrong>introng>, which is a member of the transferrtrong>introng> trong>receptortrong>-like family. This protetrong>introng> mediates cellular uptake of transferrtrong>introng>-bound iron, and may be trong>introng>volved trong>introng> iron metabolism, hepatocyte function and erythrocyte differentiation. Mutations trong>introng> this gene have been associated with hereditary hemochromatosis type III. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been described for this gene. [provided by RefSeq, May 2011]
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olfactory trong>receptortrong>, family 8, subfamily A, member 3 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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motiltrong>introng> trong>receptortrong>
Motiltrong>introng> is a 22 amtrong>introng>o acid peptide hormone expressed throughout the gastrotrong>introng>testtrong>introng>al (GI) tract. The protetrong>introng> encoded by this gene is a motiltrong>introng> trong>receptortrong> which is a member of the G-protetrong>introng> coupled trong>receptortrong> 1 family. This member is a multi-pass transmembrane protetrong>introng>, and is an important therapeutic target for the treatment of hypomotility disorders. [provided by RefSeq, Aug 2011]
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vomeronasal 1 trong>receptortrong> 59 pseudogene
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smoothened, frizzled class trong>receptortrong>
The protetrong>introng> encoded by this gene is a G protetrong>introng>-coupled trong>receptortrong> that trong>introng>teracts with the patched protetrong>introng>, a trong>receptortrong> for hedgehog protetrong>introng>s. The encoded protetrong>introng> tranduces signals to other protetrong>introng>s after activation by a hedgehog protetrong>introng>/patched protetrong>introng> complex. [provided by RefSeq, Jul 2010]
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chemoktrong>introng>e (C-X3-C motif) trong>receptortrong> 1
Fractalktrong>introng>e is a transmembrane protetrong>introng> and chemoktrong>introng>e trong>introng>volved trong>introng> the adhesion and migration of leukocytes. The protetrong>introng> encoded by this gene is a trong>receptortrong> for fractalktrong>introng>e. The encoded protetrong>introng> also is a cotrong>receptortrong> for HIV-1, and some variations trong>introng> this gene lead to trong>introng>creased susceptibility to HIV-1 trong>introng>fection and rapid progression to AIDS. Four transcript variants encodtrong>introng>g two different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
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olfactory trong>receptortrong>, family 4, subfamily T, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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glutamate trong>receptortrong> ionotropic, NMDA 2D-like
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Monkey RBC trong>receptortrong>
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vomeronasal 1 trong>receptortrong> 47 pseudogene
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reticulon 4 trong>receptortrong>
This gene encodes the trong>receptortrong> for reticulon 4, oligodendrocyte myeltrong>introng> glycoprotetrong>introng> and myeltrong>introng>-associated glycoprotetrong>introng>. This trong>receptortrong> mediates axonal growth trong>introng>hibition and may play a role trong>introng> regulattrong>introng>g axonal regeneration and plasticity trong>introng> the adult central nervous system. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 128 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily A, member 13 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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glucose-dependent trong>introng>sultrong>introng>otropic trong>receptortrong>-like
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activtrong>introng> A trong>receptortrong> type II-like 1
This gene encodes a type I cell-surface trong>receptortrong> for the TGF-trong>betatrong> superfamily of ligands. It shares with other type I trong>receptortrong>s a high degree of similarity trong>introng> sertrong>introng>e-threontrong>introng>e ktrong>introng>ase subdomatrong>introng>s, a glyctrong>introng>e- and sertrong>introng>e-rich region (called the GS domatrong>introng>) precedtrong>introng>g the ktrong>introng>ase domatrong>introng>, and a short C-termtrong>introng>al tail. The encoded protetrong>introng>, sometimes termed ALK1, shares similar domatrong>introng> structures with other closely related ALK or activtrong>introng> trong>receptortrong>-like ktrong>introng>ase protetrong>introng>s that form a subfamily of trong>receptortrong> sertrong>introng>e/threontrong>introng>e ktrong>introng>ases. Mutations trong>introng> this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 6, subfamily C, member 5 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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coxsackie virus and adenovirus trong>receptortrong> pseudogene 2
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coxsackie virus and adenovirus trong>receptortrong> pseudogene 1
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trace amtrong>introng>e associated trong>receptortrong> 7, pseudogene
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apolipoprotetrong>introng> B trong>receptortrong>
Apolipoprotetrong>introng> B48 trong>receptortrong> is a macrophage trong>receptortrong> that btrong>introng>ds to the apolipoprotetrong>introng> B48 of dietary triglyceride (TG)-rich lipoprotetrong>introng>s. This trong>receptortrong> may provide essential lipids, lipid-soluble vitamtrong>introng>s and other nutrients to reticuloendothelial cells. If overwhelmed with elevated plasma triglyceride, the apolipoprotetrong>introng> B48 trong>receptortrong> may contribute to foam cell formation, endothelial dysfunction, and atherothrombogenesis. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 11, subfamily H, member 5 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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trong>introng>terleuktrong>introng> 9 trong>receptortrong> pseudogene 4
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vomeronasal 1 trong>receptortrong> 86 pseudogene
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vomeronasal 1 trong>receptortrong> 13 pseudogene
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leukocyte immunoglobultrong>introng>-like trong>receptortrong> subfamily B member 3
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olfactory trong>receptortrong>, family 6, subfamily A, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily R, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 11 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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complement component (3d/Epstetrong>introng> Barr virus) trong>receptortrong> 2
This gene encodes a membrane protetrong>introng>, which functions as a trong>receptortrong> for Epstetrong>introng>-Barr virus (EBV) btrong>introng>dtrong>introng>g on B and T lymphocytes. Genetic variations trong>introng> this gene are associated with susceptibility to systemic lupus erythematosus type 9 (SLEB9). Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
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complement component (3b/4b) trong>receptortrong> 1 (Knops blood group)
This gene is a member of the trong>receptortrong>s of complement activation (RCA) family and is located trong>introng> the 'cluster RCA' region of chromosome 1. The genome is polymorphic at this locus with allele-specific splice variants encodtrong>introng>g different isoforms, based on the presence/absence of long homologous repeats (LHRs). The gene encodes a monomeric strong>introng>gle-pass type I membrane glycoprotetrong>introng> found on erythrocytes, leukocytes, glomerular podocytes, and splenic follicular dendritic cells. The Knops blood group system is a system of antigens located on this protetrong>introng>. The protetrong>introng> mediates cellular btrong>introng>dtrong>introng>g to particles and immune complexes that have activated complement. Decreases trong>introng> expression of this protetrong>introng> and/or mutations trong>introng> this gene have been associated with gallbladder carctrong>introng>omas, mesangiocapillary glomerulonephritis, systemic lupus erythematosus, sarcoidosis and Alzheimer's disease. Mutations trong>introng> this gene have also been associated with a reduction trong>introng> Plasmodium falciparum rosetttrong>introng>g, conferrtrong>introng>g protection agatrong>introng>st severe malaria. [provided by RefSeq, May 2020]
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olfactory trong>receptortrong>, family 7, subfamily A, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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aryl hydrocarbon trong>receptortrong> nuclear translocator-like 2
This gene encodes a basic helix-loop-helix transcription factor belongtrong>introng>g to the PAS (PER, ARNT, SIM) superfamily. The PAS protetrong>introng>s play important roles trong>introng> adaptation to low atmospheric and cellular oxygen levels, exposure to certatrong>introng> environmental pollutants, and diurnal oscillations trong>introng> light and temperature. This protetrong>introng> forms a transcriptionally active heterodimer with the circadian CLOCK protetrong>introng>, the structurally related MOP4, and hypoxia-trong>introng>ducible factors, such as HIF1alpha. Consistent with its role as a biologically relevant partner of circadian and hypoxia factors, this protetrong>introng> is coexpressed trong>introng> regions of the bratrong>introng> such as the thalamus, hypothalamus, and amygdala. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
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olfactory trong>receptortrong>, family 7, subfamily A, member 17
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily V, member 2 pseudogene
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olfactory trong>receptortrong>, family 8, subfamily B, member 3 pseudogene
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olfactory trong>receptortrong>, family 8, subfamily B, member 8 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily W, member 1 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily B, member 6 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily B, member 2 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily G, member 6 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily J, member 3 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily W, member 1 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily Y, member 1 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily B, member 2 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily K, member 15 pseudogene
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olfactory trong>receptortrong>, family 7, subfamily E, member 24 pseudogene
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olfactory trong>receptortrong>, family 7, subfamily E, member 24 pseudogene
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olfactory trong>receptortrong>, family 10, subfamily AK, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily AL, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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exporttrong>introng>, tRNA (nuclear export trong>receptortrong> for tRNAs) pseudogene
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olfactory trong>receptortrong>, family 51, subfamily L, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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cubiltrong>introng> (trong>introng>trtrong>introng>sic factor-cobalamtrong>introng> trong>receptortrong>)
Cubiltrong>introng> (CUBN) acts as a trong>receptortrong> for trong>introng>trtrong>introng>sic factor-vitamtrong>introng> B12 complexes. The role of trong>receptortrong> is supported by the presence of 27 CUB domatrong>introng>s. Cubultrong>introng> is located withtrong>introng> the epithelium of trong>introng>testtrong>introng>e and kidney. Mutations trong>introng> CUBN may play a role trong>introng> autosomal recessive megaloblastic anemia. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 52, subfamily B, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 52, subfamily B, member 6
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 52, subfamily B, member 4 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jun 2015]
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G protetrong>introng>-coupled trong>receptortrong> 182
Adrenomedulltrong>introng> is a potent vasodilator peptide that exerts major effects on cardiovascular function. This gene encodes a seven-transmembrane protetrong>introng> that belongs to the family 1 of G-protetrong>introng> coupled trong>receptortrong>s. Studies of the rat counterpart suggest that the encoded protetrong>introng> may function as a trong>receptortrong> for adrenomedulltrong>introng>. [provided by RefSeq, Jul 2008]
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G protetrong>introng>-coupled trong>receptortrong> 183
This gene was identified by the up-regulation of its expression upon Epstetrong>introng>-Barr virus trong>introng>fection of primary B lymphocytes. This gene is predicted to encode a G protetrong>introng>-coupled trong>receptortrong> that is most closely related to the thrombtrong>introng> trong>receptortrong>. Expression of this gene was detected trong>introng> B-lymphocyte cell ltrong>introng>es and lymphoid tissues but not trong>introng> T-lymphocyte cell ltrong>introng>es or peripheral blood T lymphocytes. The function of this gene is unknown. [provided by RefSeq, Jul 2008]
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chemoktrong>introng>e (C-C motif) trong>receptortrong> 12, pseudogene
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G protetrong>introng>-coupled trong>receptortrong> 89 pseudogene
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olfactory trong>receptortrong>, family 10, subfamily G, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily BB, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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glyctrong>introng>e trong>receptortrong>, alpha 3
This gene encodes a member of the ligand-gated ion channel protetrong>introng> family. The encoded protetrong>introng> is a member of the glyctrong>introng>e trong>receptortrong> subfamily. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Nov 2013]
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glyctrong>introng>e trong>receptortrong>, alpha 2
The glyctrong>introng>e trong>receptortrong> consists of two subunits, alpha and trong>betatrong>, and acts as a pentamer. The protetrong>introng> encoded by this gene is an alpha subunit and can btrong>introng>d strychntrong>introng>e. Several transcript variants encodtrong>introng>g different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]
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glyctrong>introng>e trong>receptortrong>, alpha 4
This gene encodes a glyctrong>introng>e trong>receptortrong> and member of the ligand-gated ion channel family of protetrong>introng>s. The encoded protetrong>introng> is misstrong>introng>g the fourth transmembrane region compared to related protetrong>introng>s trong>introng> mouse and rat, and experimental data suggests that the human protetrong>introng> is functionally trong>introng>active. However, there is strong evidence to support transcription of this gene. As a result, RefSeq, trong>introng> collaboration with Ensembl-GENCODE, has determtrong>introng>ed that this locus is best described as a transcribed pseudogene. [provided by RefSeq, Aug 2019]
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olfactory trong>receptortrong>, family 4, subfamily F, member 21 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily C, member 15
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily C, member 16 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jun 2015]
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olfactory trong>receptortrong>, family 4, subfamily C, member 11
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily C, member 13
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily C, member 12
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily AJ, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily AN, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily K, member 4 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily AR, member 1 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jun 2015]
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proltrong>introng>e-rich nuclear trong>receptortrong> coactivator 1
Predicted to be trong>introng>volved trong>introng> nuclear-transcribed mRNA catabolic process, nonsense-mediated decay. Predicted to be active trong>introng> P-body and nucleus. [provided by Alliance of Genome Resources, Mar 2025]
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proltrong>introng>e-rich nuclear trong>receptortrong> coactivator 2
trong>Introng>volved trong>introng> nuclear-transcribed mRNA catabolic process, nonsense-mediated decay. Located trong>introng> Golgi apparatus; P-body; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]
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prolacttrong>introng> trong>receptortrong>
This gene encodes a trong>receptortrong> for the anterior pituitary hormone, prolacttrong>introng>, and belongs to the type I cytoktrong>introng>e trong>receptortrong> family. Prolacttrong>introng>-dependent signaltrong>introng>g occurs as the result of ligand-trong>introng>duced dimerization of the prolacttrong>introng> trong>receptortrong>. Several alternatively spliced transcript variants encodtrong>introng>g different membrane-bound and soluble isoforms have been described for this gene, which may function to modulate the endocrtrong>introng>e and autocrtrong>introng>e effects of prolacttrong>introng> trong>introng> normal tissue and cancer. [provided by RefSeq, Feb 2011]
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olfactory trong>receptortrong>, family 11, subfamily H, member 12 pseudogene
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olfactory trong>receptortrong>, family 1, subfamily L, member 8
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 1, subfamily L, member 4
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 1, subfamily L, member 6
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 1, subfamily L, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 1, subfamily L, member 3
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily A, member 42 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 6 pseudogene
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olfactory trong>receptortrong>, family 7, subfamily E, member 111 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 54 pseudogene
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olfactory trong>receptortrong>, family 7, subfamily E, member 43 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 101 pseudogene
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vomeronasal 1 trong>receptortrong> 33 pseudogene
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vomeronasal 1 trong>receptortrong> 104 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily C, member 6 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily B, member 1 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily A, member 5 pseudogene
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coxsackie virus and adenovirus trong>receptortrong> pseudogene
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tyrostrong>introng>e-protetrong>introng> phosphatase non-trong>receptortrong> type 20-like
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prostaglandtrong>introng> E trong>receptortrong> 4 (subtype EP4)
The protetrong>introng> encoded by this gene is a member of the G-protetrong>introng> coupled trong>receptortrong> family. This protetrong>introng> is one of four trong>receptortrong>s identified for prostaglandtrong>introng> E2 (PGE2). This trong>receptortrong> can activate T-cell factor signaltrong>introng>g. It has been shown to mediate PGE2 trong>introng>duced expression of early growth response 1 (EGR1), regulate the level and stability of cyclooxygenase-2 mRNA, and lead to the phosphorylation of glycogen synthase ktrong>introng>ase-3. Knockout studies trong>introng> mice suggest that this trong>receptortrong> may be trong>introng>volved trong>introng> the neonatal adaptation of circulatory system, osteoporosis, as well as trong>introng>itiation of sktrong>introng> immune responses. [provided by RefSeq, Jul 2008]
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prostaglandtrong>introng> E trong>receptortrong> 1 (subtype EP1), 42kDa
The protetrong>introng> encoded by this gene is a member of the G protetrong>introng>-coupled trong>receptortrong> family. This protetrong>introng> is one of four trong>receptortrong>s identified for prostaglandtrong>introng> E2 (PGE2). Through a phosphatidyltrong>introng>ositol-calcium second messenger system, G-Q protetrong>introng>s mediate this trong>receptortrong>'s activity. Knockout studies trong>introng> mice suggested a role of this trong>receptortrong> trong>introng> mediattrong>introng>g algesia and trong>introng> regulation of blood pressure. Studies trong>introng> mice also suggested that this gene may mediate adrenocorticotropic hormone response to bacterial endotoxtrong>introng>. [provided by RefSeq, Jul 2008]
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prostaglandtrong>introng> E trong>receptortrong> 2 (subtype EP2), 53kDa
This gene encodes a trong>receptortrong> for prostaglandtrong>introng> E2, a metabolite of arachidonic acid which has different biologic activities trong>introng> a wide range of tissues. Mutations trong>introng> this gene are associated with aspirtrong>introng>-trong>introng>duced susceptibility to asthma. [provided by RefSeq, Oct 2009]
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prostaglandtrong>introng> E trong>receptortrong> 3 (subtype EP3)
The protetrong>introng> encoded by this gene is a member of the G-protetrong>introng> coupled trong>receptortrong> family. This protetrong>introng> is one of four trong>receptortrong>s identified for prostaglandtrong>introng> E2 (PGE2). This trong>receptortrong> may have many biological functions, which trong>introng>volve digestion, nervous system, kidney reabsorption, and utertrong>introng>e contraction activities. Studies of the mouse counterpart suggest that this trong>receptortrong> may also mediate adrenocorticotropic hormone response as well as fever generation trong>introng> response to exogenous and endogenous stimuli. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
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olfactory trong>receptortrong>, family 13, subfamily C, member 4
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 13, subfamily C, member 5
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 13, subfamily C, member 7 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jan 2017]
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olfactory trong>receptortrong>, family 13, subfamily C, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 13, subfamily C, member 3
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 13, subfamily C, member 8
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 13, subfamily C, member 9
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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tumor necrosis factor trong>receptortrong> superfamily, member 8
The protetrong>introng> encoded by this gene is a member of the TNF-trong>receptortrong> superfamily. This trong>receptortrong> is expressed by activated, but not by resttrong>introng>g, T and B cells. TRAF2 and TRAF5 can trong>introng>teract with this trong>receptortrong>, and mediate the signal transduction that leads to the activation of NF-kappaB. This trong>receptortrong> is a positive regulator of apoptosis, and also has been shown to limit the proliferative potential of autoreactive CD8 effector T cells and protect the body agatrong>introng>st autoimmunity. Two alternatively spliced transcript variants of this gene encodtrong>introng>g disttrong>introng>ct isoforms have been reported. [provided by RefSeq, Jul 2008]
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tumor necrosis factor trong>receptortrong> superfamily, member 9
The protetrong>introng> encoded by this gene is a member of the TNF-trong>receptortrong> superfamily. This trong>receptortrong> contributes to the clonal expansion, survival, and development of T cells. It can also trong>introng>duce proliferation trong>introng> peripheral monocytes, enhance T cell apoptosis trong>introng>duced by TCR/CD3 triggered activation, and regulate CD28 co-stimulation to promote Th1 cell responses. The expression of this trong>receptortrong> is trong>introng>duced by lymphocyte activation. TRAF adaptor protetrong>introng>s have been shown to btrong>introng>d to this trong>receptortrong> and transduce the signals leadtrong>introng>g to activation of NF-kappaB. [provided by RefSeq, Jul 2008]
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tumor necrosis factor trong>receptortrong> superfamily, member 4
The protetrong>introng> encoded by this gene is a member of the TNF-trong>receptortrong> superfamily. This trong>receptortrong> has been shown to activate NF-kappaB through its trong>introng>teraction with adaptor protetrong>introng>s TRAF2 and TRAF5. Knockout studies trong>introng> mice suggested that this trong>receptortrong> promotes the expression of apoptosis trong>introng>hibitors BCL2 and BCL2lL1/BCL2-XL, and thus suppresses apoptosis. The knockout studies also suggested the roles of this trong>receptortrong> trong>introng> CD4+ T cell response, as well as trong>introng> T cell-dependent B cell proliferation and differentiation. [provided by RefSeq, Jul 2008]
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ligand dependent nuclear trong>receptortrong> corepressor
LCOR is a transcriptional corepressor widely expressed trong>introng> fetal and adult tissues that is recruited to agonist-bound nuclear trong>receptortrong>s through a strong>introng>gle LxxLL motif, also referred to as a nuclear trong>receptortrong> (NR) box (Fernandes et al., 2003 [PubMed 12535528]).[supplied by OMIM, Mar 2008]
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olfactory trong>receptortrong>, family 4, subfamily F, member 28 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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oxytoctrong>introng> trong>receptortrong>
The protetrong>introng> encoded by this gene belongs to the G-protetrong>introng> coupled trong>receptortrong> family and acts as a trong>receptortrong> for oxytoctrong>introng>. Its activity is mediated by G protetrong>introng>s which activate a phosphatidyltrong>introng>ositol-calcium second messenger system. The oxytoctrong>introng>-oxytoctrong>introng> trong>receptortrong> system plays an important role trong>introng> the uterus durtrong>introng>g parturition. [provided by RefSeq, Jul 2008]
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epidermal growth factor trong>receptortrong> pathway substrate 8
This gene encodes a member of the EPS8 family. This protetrong>introng> contatrong>introng>s one PH domatrong>introng> and one SH3 domatrong>introng>. It functions as part of the EGFR pathway, though its exact role has not been determtrong>introng>ed. Highly similar protetrong>introng>s trong>introng> other organisms are trong>introng>volved trong>introng> the transduction of signals from Ras to Rac and growth factor-mediated acttrong>introng> remodeltrong>introng>g. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
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Fc fragment of IgG, trong>receptortrong>, transporter, alpha
This gene encodes a trong>receptortrong> that btrong>introng>ds the Fc region of monomeric immunoglobultrong>introng> G. The encoded protetrong>introng> transfers immunoglobultrong>introng> G antibodies from mother to fetus across the placenta. This protetrong>introng> also btrong>introng>ds immunoglobultrong>introng> G to protect the antibody from degradation. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Apr 2009]
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leukocyte immunoglobultrong>introng>-like trong>receptortrong>, subfamily A (with TM domatrong>introng>), member 6 pseudogene
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olfactory trong>receptortrong>, family 7, subfamily M, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily AH, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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thyroid hormone trong>receptortrong> trong>introng>teractor 11 pseudogene
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trong>introng>sultrong>introng> trong>receptortrong> substrate 4
IRS4 encodes the trong>introng>sultrong>introng> trong>receptortrong> substrate 4, a cytoplasmic protetrong>introng> that contatrong>introng>s many potential tyrostrong>introng>e and sertrong>introng>e/threontrong>introng>e phosphorylation sites. Tyrostrong>introng>e-phosphorylated IRS4 protetrong>introng> has been shown to associate with cytoplasmic signalltrong>introng>g molecules that contatrong>introng> SH2 domatrong>introng>s. The IRS4 protetrong>introng> is phosphorylated by the trong>introng>sultrong>introng> trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase upon trong>receptortrong> stimulation.. [provided by RefSeq, Jul 2008]
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trong>introng>sultrong>introng> trong>receptortrong> substrate 1
This gene encodes a protetrong>introng> which is phosphorylated by trong>introng>sultrong>introng> trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase. Mutations trong>introng> this gene are associated with type II diabetes and susceptibility to trong>introng>sultrong>introng> resistance. [provided by RefSeq, Nov 2009]
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trong>introng>sultrong>introng> trong>receptortrong> substrate 2
This gene encodes the trong>introng>sultrong>introng> trong>receptortrong> substrate 2, a cytoplasmic signaltrong>introng>g molecule that mediates effects of trong>introng>sultrong>introng>, trong>introng>sultrong>introng>-like growth factor 1, and other cytoktrong>introng>es by acttrong>introng>g as a molecular adaptor between diverse trong>receptortrong> tyrostrong>introng>e ktrong>introng>ases and downstream effectors. The product of this gene is phosphorylated by the trong>introng>sultrong>introng> trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase upon trong>receptortrong> stimulation, as well as by an trong>introng>terleuktrong>introng> 4 trong>receptortrong>-associated ktrong>introng>ase trong>introng> response to IL4 treatment. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily Q, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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trong>receptortrong>-associated protetrong>introng> of the synapse
This gene encodes a member of a family of protetrong>introng>s that are trong>receptortrong> associated protetrong>introng>s of the synapse. The encoded protetrong>introng> contatrong>introng>s a conserved cAMP-dependent protetrong>introng> ktrong>introng>ase phosphorylation site, and plays a critical role trong>introng> clustertrong>introng>g and anchortrong>introng>g nicottrong>introng>ic acetylcholtrong>introng>e trong>receptortrong>s at synaptic sites by ltrong>introng>ktrong>introng>g the trong>receptortrong>s to the underlytrong>introng>g postsynaptic cytoskeleton, possibly by direct association with acttrong>introng> or spectrtrong>introng>. Mutations trong>introng> this gene may play a role trong>introng> postsynaptic congenital myasthenic syndromes. Alternatively spliced transcript variants encodtrong>introng>g multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2011]
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roundabout, axon guidance trong>receptortrong>, homolog 2 (Drosophila)
The protetrong>introng> encoded by this gene belongs to the ROBO family, part of the immunoglobultrong>introng> superfamily of protetrong>introng>s that are highly conserved from fly to human. The encoded protetrong>introng> is a transmembrane trong>receptortrong> for the slit homolog 2 protetrong>introng> and functions trong>introng> axon guidance and cell migration. Mutations trong>introng> this gene are associated with vesicoureteral reflux, characterized by the backward flow of urtrong>introng>e from the bladder trong>introng>to the ureters or the kidney. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Feb 2014]
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protetrong>introng> tyrostrong>introng>e phosphatase, non-trong>receptortrong> type 11 pseudogene
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transient trong>receptortrong> potential cation channel, subfamily V, member 5
This gene is a member of the transient trong>receptortrong> family and the TrpV subfamily. The calcium-selective channel encoded by this gene has 6 transmembrane-spanntrong>introng>g domatrong>introng>s, multiple potential phosphorylation sites, an N-ltrong>introng>ked glycosylation site, and 5 ANK repeats. This protetrong>introng> forms homotetramers or heterotetramers and is activated by a low trong>introng>ternal calcium level. [provided by RefSeq, Jul 2008]
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transient trong>receptortrong> potential cation channel, subfamily V, member 4
This gene encodes a member of the OSM9-like transient trong>receptortrong> potential channel (OTRPC) subfamily trong>introng> the transient trong>receptortrong> potential (TRP) superfamily of ion channels. The encoded protetrong>introng> is a Ca2+-permeable, nonselective cation channel that is thought to be trong>introng>volved trong>introng> the regulation of systemic osmotic pressure. Mutations trong>introng> this gene are the cause of spondylometaphyseal and metatropic dysplasia and hereditary motor and sensory neuropathy type IIC. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]
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transient trong>receptortrong> potential cation channel, subfamily V, member 6
This gene encodes a member of a family of multipass membrane protetrong>introng>s that functions as calcium channels. The encoded protetrong>introng> contatrong>introng>s N-termtrong>introng>al ankyrtrong>introng> repeats, which are required for channel assembly and regulation. Translation trong>introng>itiation for this protetrong>introng> occurs at a non-AUG start codon that is decoded as methiontrong>introng>e. This gene is situated next to a closely related gene for transient trong>receptortrong> potential cation channel subfamily V member 5 (TRPV5). This locus has experienced positive selection trong>introng> non-African populations, resulttrong>introng>g trong>introng> several non-synonymous codon differences among trong>introng>dividuals of different genetic backgrounds. [provided by RefSeq, Feb 2015]
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transient trong>receptortrong> potential cation channel, subfamily V, member 1
Capsaictrong>introng>, the matrong>introng> pungent trong>introng>gredient trong>introng> hot chili peppers, elicits a sensation of burntrong>introng>g patrong>introng> by selectively activattrong>introng>g sensory neurons that convey trong>introng>formation about noxious stimuli to the central nervous system. The protetrong>introng> encoded by this gene is a trong>receptortrong> for capsaictrong>introng> and is a non-selective cation channel that is structurally related to members of the TRP family of ion channels. This trong>receptortrong> is also activated by trong>introng>creases trong>introng> temperature trong>introng> the noxious range, suggesttrong>introng>g that it functions as a transducer of patrong>introng>ful thermal stimuli trong>introng> vivo. Four transcript variants encodtrong>introng>g the same protetrong>introng>, but with different 5' UTR sequence, have been described for this gene. [provided by RefSeq, Jul 2008]
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transient trong>receptortrong> potential cation channel, subfamily V, member 3
This gene product belongs to a family of nonselective cation channels that function trong>introng> a variety of processes, trong>introng>cludtrong>introng>g temperature sensation and vasoregulation. The thermosensitive members of this family are expressed trong>introng> subsets of sensory neurons that termtrong>introng>ate trong>introng> the sktrong>introng>, and are activated at disttrong>introng>ct physiological temperatures. This channel is activated at temperatures between 22 and 40 degrees C. This gene lies trong>introng> close proximity to another family member gene on chromosome 17, and the two encoded protetrong>introng>s are thought to associate with each other to form heteromeric channels. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
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transient trong>receptortrong> potential cation channel, subfamily V, member 2
This gene encodes an ion channel that is activated by high temperatures above 52 degrees Celsius. The protetrong>introng> may be trong>introng>volved trong>introng> transduction of high-temperature heat responses trong>introng> sensory ganglia. It is thought that trong>introng> other tissues the channel may be activated by stimuli other than heat. [provided by RefSeq, Jul 2008]
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fibroblast growth factor trong>receptortrong> 4
The protetrong>introng> encoded by this gene is a tyrostrong>introng>e ktrong>introng>ase and cell surface trong>receptortrong> for fibroblast growth factors. The encoded protetrong>introng> is trong>introng>volved trong>introng> the regulation of several pathways, trong>introng>cludtrong>introng>g cell proliferation, cell differentiation, cell migration, lipid metabolism, bile acid biosynthesis, vitamtrong>introng> D metabolism, glucose uptake, and phosphate homeostasis. This protetrong>introng> consists of an extracellular region, composed of three immunoglobultrong>introng>-like domatrong>introng>s, a strong>introng>gle hydrophobic membrane-spanntrong>introng>g segment, and a cytoplasmic tyrostrong>introng>e ktrong>introng>ase domatrong>introng>. The extracellular portion trong>introng>teracts with fibroblast growth factors, setttrong>introng>g trong>introng> motion a cascade of downstream signals, ultimately trong>introng>fluenctrong>introng>g mitogenesis and differentiation. [provided by RefSeq, Aug 2017]
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fibroblast growth factor trong>receptortrong> 2
The protetrong>introng> encoded by this gene is a member of the fibroblast growth factor trong>receptortrong> family, where amtrong>introng>o acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another trong>introng> their ligand afftrong>introng>ities and tissue distribution. A full-length representative protetrong>introng> consists of an extracellular region, composed of three immunoglobultrong>introng>-like domatrong>introng>s, a strong>introng>gle hydrophobic membrane-spanntrong>introng>g segment and a cytoplasmic tyrostrong>introng>e ktrong>introng>ase domatrong>introng>. The extracellular portion of the protetrong>introng> trong>introng>teracts with fibroblast growth factors, setttrong>introng>g trong>introng> motion a cascade of downstream signals, ultimately trong>introng>fluenctrong>introng>g mitogenesis and differentiation. This particular family member is a high-afftrong>introng>ity trong>receptortrong> for acidic, basic and/or kerattrong>introng>ocyte growth factor, dependtrong>introng>g on the isoform. Mutations trong>introng> this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encodtrong>introng>g different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]
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fibroblast growth factor trong>receptortrong> 3
This gene encodes a member of the fibroblast growth factor trong>receptortrong> (FGFR) family, with its amtrong>introng>o acid sequence betrong>introng>g highly conserved between members and among divergent species. FGFR family members differ from one another trong>introng> their ligand afftrong>introng>ities and tissue distribution. A full-length representative protetrong>introng> would consist of an extracellular region, composed of three immunoglobultrong>introng>-like domatrong>introng>s, a strong>introng>gle hydrophobic membrane-spanntrong>introng>g segment and a cytoplasmic tyrostrong>introng>e ktrong>introng>ase domatrong>introng>. The extracellular portion of the protetrong>introng> trong>introng>teracts with fibroblast growth factors, setttrong>introng>g trong>introng> motion a cascade of downstream signals, ultimately trong>introng>fluenctrong>introng>g mitogenesis and differentiation. This particular family member btrong>introng>ds acidic and basic fibroblast growth hormone and plays a role trong>introng> bone development and matrong>introng>tenance. Mutations trong>introng> this gene lead to craniosynostosis and multiple types of skeletal dysplasia. [provided by RefSeq, Aug 2017]
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fibroblast growth factor trong>receptortrong> 1
The protetrong>introng> encoded by this gene is a member of the fibroblast growth factor trong>receptortrong> (FGFR) family, where amtrong>introng>o acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another trong>introng> their ligand afftrong>introng>ities and tissue distribution. A full-length representative protetrong>introng> consists of an extracellular region, composed of three immunoglobultrong>introng>-like domatrong>introng>s, a strong>introng>gle hydrophobic membrane-spanntrong>introng>g segment and a cytoplasmic tyrostrong>introng>e ktrong>introng>ase domatrong>introng>. The extracellular portion of the protetrong>introng> trong>introng>teracts with fibroblast growth factors, setttrong>introng>g trong>introng> motion a cascade of downstream signals, ultimately trong>introng>fluenctrong>introng>g mitogenesis and differentiation. This particular family member btrong>introng>ds both acidic and basic fibroblast growth factors and is trong>introng>volved trong>introng> limb trong>introng>duction. Mutations trong>introng> this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal domtrong>introng>ant Kallmann syndrome 2. Chromosomal aberrations trong>introng>volvtrong>introng>g this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protetrong>introng> isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
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argtrong>introng>trong>introng>e vasopresstrong>introng> trong>receptortrong> 2
This gene encodes the vasopresstrong>introng> trong>receptortrong>, type 2, also known as the V2 trong>receptortrong>, which belongs to the seven-transmembrane-domatrong>introng> G protetrong>introng>-coupled trong>receptortrong> (GPCR) superfamily, and couples to Gs thus stimulattrong>introng>g adenylate cyclase. The subfamily that trong>introng>cludes the V2 trong>receptortrong>, the V1a and V1b vasopresstrong>introng> trong>receptortrong>s, the oxytoctrong>introng> trong>receptortrong>, and isotoctrong>introng> and mesotoctrong>introng> trong>receptortrong>s trong>introng> non-mammals, is well conserved, though several members signal via other G protetrong>introng>s. All btrong>introng>d similar cyclic nonapeptide hormones. The V2 trong>receptortrong> is expressed trong>introng> the kidney tubule, predomtrong>introng>antly trong>introng> the distal convoluted tubule and collecttrong>introng>g ducts, where its primary property is to respond to the pituitary hormone argtrong>introng>trong>introng>e vasopresstrong>introng> (AVP) by stimulattrong>introng>g mechanisms that concentrate the urtrong>introng>e and matrong>introng>tatrong>introng> water homeostasis trong>introng> the organism. When the function of this gene is lost, the disease Nephrogenic Diabetes trong>Introng>sipidus (NDI) results. The V2 trong>receptortrong> is also expressed outside the kidney although its tissue localization is uncertatrong>introng>. When these 'extrarenal trong>receptortrong>s' are stimulated by trong>introng>fusion of a V2 selective agonist (dDAVP), a variety of clotttrong>introng>g factors are released trong>introng>to the bloodstream. The physiologic importance of this property is not known - its absence does not appear to be detrimental trong>introng> NDI patients. The gene expression has also been described trong>introng> fetal lung tissue and lung cancer associated with alternative splictrong>introng>g. [provided by RefSeq, Jul 2008]
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prostaglandtrong>introng> F trong>receptortrong> (FP)
The protetrong>introng> encoded by this gene is member of the G-protetrong>introng> coupled trong>receptortrong> family. This protetrong>introng> is a trong>receptortrong> for prostaglandtrong>introng> F2-alpha (PGF2-alpha), which is known to be a potent luteolytic agent, and may also be trong>introng>volved trong>introng> modulattrong>introng>g trong>introng>traocular pressure and smooth muscle contraction trong>introng> uterus. Knockout studies trong>introng> mice suggest that the trong>introng>teraction of PGF2-alpha with this trong>receptortrong> may trong>introng>itiate parturition trong>introng> ovarian luteal cells and thus trong>introng>duce luteolysis. Two transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 19 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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leukocyte immunoglobultrong>introng>-like trong>receptortrong> subfamily B member 3
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olfactory trong>receptortrong>, family 4, subfamily W, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 13, subfamily D, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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nuclear trong>receptortrong> coactivator 4 pseudogene 1
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olfactory trong>receptortrong>, family 8, subfamily X, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 12, subfamily D, member 1 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jan 2017]
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olfactory trong>receptortrong>, family 12, subfamily D, member 2 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jun 2015]
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olfactory trong>receptortrong>, family 12, subfamily D, member 3
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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bombestrong>introng>-like trong>receptortrong> 3
The protetrong>introng> encoded by this gene is a G protetrong>introng>-coupled membrane trong>receptortrong> that btrong>introng>ds bombestrong>introng>-like peptides. This btrong>introng>dtrong>introng>g results trong>introng> activation of a phosphatidyltrong>introng>ositol-calcium second messenger system, with physiological effects trong>introng>cludtrong>introng>g regulation of metabolic rate, glucose metabolism, and hypertension. [provided by RefSeq, Sep 2011]
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olfactory trong>receptortrong>, family 7, subfamily A, member 17 pseudogene
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olfactory trong>receptortrong>, family 7, subfamily E, member 24 pseudogene
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olfactory trong>receptortrong>, family 6, subfamily C, member 65 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily F, member 21 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily W, member 3
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily W, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily W, member 5 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene has a codtrong>introng>g sequence that is comparable trong>introng> length to other olfactory trong>receptortrong> genes, but it should be noted that a frameshift is present trong>introng> the 3' codtrong>introng>g region that disrupts the 7-transmembrane domatrong>introng> structure trong>introng> the protetrong>introng>. It is unclear if the protetrong>introng> can function as an olfactory trong>receptortrong> or if an alternate function is served. For this reason, this gene has also been trong>introng>terpreted to be a pseudogene. [provided by RefSeq, Jan 2010]
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olfactory trong>receptortrong>, family 7, subfamily E, member 136 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 51, subfamily D, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily C, member 50 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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hypocrettrong>introng> (orextrong>introng>) trong>receptortrong> 2
The protetrong>introng> encoded by this gene is a G-protetrong>introng> coupled trong>receptortrong> trong>introng>volved trong>introng> the regulation of feedtrong>introng>g behavior. The encoded protetrong>introng> btrong>introng>ds the hypothalamic neuropeptides orextrong>introng> A and orextrong>introng> B. A related gene (HCRTR1) encodes a G-protetrong>introng> coupled trong>receptortrong> that selectively btrong>introng>ds orextrong>introng> A. [provided by RefSeq, Jan 2009]
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olfactory trong>receptortrong>, family 52, subfamily E, member 8
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily F, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily J, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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nuclear trong>receptortrong> subfamily 2, group C, member 2
This gene encodes a protetrong>introng> that belongs to the nuclear hormone trong>receptortrong> family. Members of this family act as ligand-activated transcription factors and function trong>introng> many biological processes such as development, cellular differentiation and homeostasis. The activated trong>receptortrong>/ligand complex is translocated to the nucleus where it btrong>introng>ds to hormone response elements of target genes. The protetrong>introng> encoded by this gene plays a role trong>introng> protecttrong>introng>g cells from oxidative stress and damage trong>introng>duced by ioniztrong>introng>g radiation. The lack of a similar gene trong>introng> mouse results trong>introng> growth retardation, severe sptrong>introng>al curvature, subfertility, premature agtrong>introng>g, and prostatic trong>introng>traepithelial neoplasia (PIN) development. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g different isoforms. [provided by RefSeq, Apr 2014]
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nuclear trong>receptortrong> subfamily 2, group C, member 1
This gene encodes a nuclear hormone trong>receptortrong> characterized by a highly conserved DNA btrong>introng>dtrong>introng>g domatrong>introng> (DBD), a variable htrong>introng>ge region, and a carboxy-termtrong>introng>al ligand btrong>introng>dtrong>introng>g domatrong>introng> (LBD) that is typical for all members of the steroid/thyroid hormone trong>receptortrong> superfamily. This protetrong>introng> also belongs to a large family of ligand-trong>introng>ducible transcription factors that regulate gene expression by btrong>introng>dtrong>introng>g to specific DNA sequences withtrong>introng> promoters of target genes. Multiple alternatively spliced transcript variants have been described, but the full-length nature of some of these variants has not been determtrong>introng>ed. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 52, subfamily W, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily M, member 4 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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golgi SNAP trong>receptortrong> complex member 2
This gene encodes a trafficktrong>introng>g membrane protetrong>introng> which transports protetrong>introng>s among the medial- and trans-Golgi compartments. Due to its chromosomal location and trafficktrong>introng>g function, this gene may be trong>introng>volved trong>introng> familial essential hypertension. [provided by RefSeq, Mar 2016]
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G protetrong>introng>-coupled trong>receptortrong> 22
This gene is a member of the G-protetrong>introng> coupled trong>receptortrong> 1 family and encodes a multi-pass membrane protetrong>introng>. [provided by RefSeq, Jul 2008]
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G protetrong>introng>-coupled trong>receptortrong> 20
Enables G protetrong>introng>-coupled trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway. Located trong>introng> cytosol and plasma membrane. Part of trong>receptortrong> complex. [provided by Alliance of Genome Resources, Mar 2025]
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G protetrong>introng>-coupled trong>receptortrong> 21
This gene encodes a member of the G-protetrong>introng>-coupled trong>receptortrong> 1 family. G-protetrong>introng> coupled trong>receptortrong>s are membrane protetrong>introng>s which activate signaltrong>introng>g cascades as a response to extracellular stress. The encoded protetrong>introng> activates a Gq signal transduction pathway which mobilizes calcium. [provided by RefSeq, Nov 2012]
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G protetrong>introng>-coupled trong>receptortrong> 26
This gene encodes a G protetrong>introng>-couple trong>receptortrong> protetrong>introng>. G-protetrong>introng>-coupled trong>receptortrong>s are a large family of membrane protetrong>introng>s that are trong>introng>volved trong>introng> cellular responses to environmental stimuli, neurotransmitters, and hormones. The encoded protetrong>introng> may play a role trong>introng> neurodegenerative diseases. Epigenetic silenctrong>introng>g of this gene has been observed trong>introng> gliomas. [provided by RefSeq, Sep 2016]
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G protetrong>introng>-coupled trong>receptortrong> 27
GPR27 is a member of the G protetrong>introng>-coupled trong>receptortrong>s (GPCRs), a large family of trong>receptortrong>s that have a similar structure characterized by 7 transmembrane domatrong>introng>s. Activation of GPCRs by extracellular stimuli such as neurotransmitters, hormones, or light trong>introng>duces an trong>introng>tracellular signaltrong>introng>g cascade mediated by heterotrimeric GTP-btrong>introng>dtrong>introng>g protetrong>introng>s, or G protetrong>introng>s.[supplied by OMIM, May 2010]
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G protetrong>introng>-coupled trong>receptortrong> 25
This gene is trong>introng>tronless and encodes a member of the G-protetrong>introng> coupled trong>receptortrong> 1 family. G-protetrong>introng> coupled trong>receptortrong>s are membrane protetrong>introng>s which activate signaltrong>introng>g cascades as a response to extracellular stress. This gene has been ltrong>introng>ked to arterial stiffness. [provided by RefSeq, Nov 2012]
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Fc trong>receptortrong>-like 5
This gene encodes a member of the immunoglobultrong>introng> trong>receptortrong> superfamily and the Fc-trong>receptortrong> like family. This gene and several other Fc trong>receptortrong>-like gene members are clustered on the long arm of chromosome 1. The encoded protetrong>introng> is a strong>introng>gle-pass type I membrane protetrong>introng> and contatrong>introng>s 8 immunoglobultrong>introng>-like C2-type domatrong>introng>s. This gene is implicated trong>introng> B cell development and lymphomagenesis. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been identified. [provided by RefSeq, Sep 2010]
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olfactory trong>receptortrong>, family 4, subfamily S, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily S, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 8, subfamily B, member 10 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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taste trong>receptortrong>, type 2, member 8
This gene product belongs to the family of candidate taste trong>receptortrong>s that are members of the G-protetrong>introng>-coupled trong>receptortrong> superfamily. These protetrong>introng>s are specifically expressed trong>introng> the taste trong>receptortrong> cells of the tongue and palate epithelia. They are organized trong>introng> the genome trong>introng> clusters and are genetically ltrong>introng>ked to loci that trong>introng>fluence bitter perception trong>introng> mice and humans. trong>Introng> functional expression studies, they respond to bitter tastants. This gene maps to the taste trong>receptortrong> gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 27 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily B, member 4 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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taste trong>receptortrong>, type 2, member 1
This gene encodes a member of a family of candidate taste trong>receptortrong>s that are members of the G protetrong>introng>-coupled trong>receptortrong> superfamily and that are specifically expressed by taste trong>receptortrong> cells of the tongue and palate epithelia. This trong>introng>tronless taste trong>receptortrong> gene encodes a 7-transmembrane trong>receptortrong> protetrong>introng>, functiontrong>introng>g as a bitter taste trong>receptortrong>. This gene is mapped to chromosome 5p15, the location of a genetic locus (PROP) that controls the detection of the bitter compound 6-n-propyl-2-thiouracil. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 109 pseudogene
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olfactory trong>receptortrong>, family 52, subfamily A, member 4, pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. Although origtrong>introng>ally considered to be a functional olfactory trong>receptortrong>, this family member is now considered to be pseudogene due to the presence of a C-termtrong>introng>al frameshift compared to other family members; this is also consistent with the Classifier for Olfactory trong>Receptortrong> Pseudogenes (CORP), as described trong>introng> PMID:16939646. [provided by RefSeq, Jun 2011]
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somatostattrong>introng> trong>receptortrong> 3
This gene encodes a member of the somatostattrong>introng> trong>receptortrong> protetrong>introng> family. Somatostattrong>introng>s are peptide hormones that regulate diverse cellular functions such as neurotransmission, cell proliferation, and endocrtrong>introng>e signaltrong>introng>g as well as trong>introng>hibittrong>introng>g the release of many hormones and other secretory protetrong>introng>s. Somatostattrong>introng> has two active forms of 14 and 28 amtrong>introng>o acids. The biological effects of somatostattrong>introng>s are mediated by a family of G-protetrong>introng> coupled somatostattrong>introng> trong>receptortrong>s that are expressed trong>introng> a tissue-specific manner. Somatostattrong>introng> trong>receptortrong>s form homodimers and heterodimers with other members of the superfamily as well as with other G-protetrong>introng> coupled trong>receptortrong>s and trong>receptortrong> tyrostrong>introng>e ktrong>introng>ases. This protetrong>introng> is functionally coupled to adenylyl cyclase. Alternate splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jul 2013]
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somatostattrong>introng> trong>receptortrong> 2
Somatostattrong>introng> acts at many sites to trong>introng>hibit the release of many hormones and other secretory protetrong>introng>s. The biologic effects of somatostattrong>introng> are probably mediated by a family of G protetrong>introng>-coupled trong>receptortrong>s that are expressed trong>introng> a tissue-specific manner. SSTR2 is a member of the superfamily of trong>receptortrong>s havtrong>introng>g seven transmembrane segments and is expressed trong>introng> highest levels trong>introng> cerebrum and kidney. [provided by RefSeq, Jul 2008]
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somatostattrong>introng> trong>receptortrong> 5
Somatostattrong>introng> and its related peptide cortistattrong>introng> exert multiple biological actions on normal and tumoral tissue targets by trong>introng>teracttrong>introng>g with somatostattrong>introng> trong>receptortrong>s (SSTRs). The protetrong>introng> encoded by this gene is one of the SSTRs, which is a multi-pass membrane protetrong>introng> and belongs to the G-protetrong>introng> coupled trong>receptortrong> 1 family. The activity of this trong>receptortrong> is mediated by G protetrong>introng>s which trong>introng>hibit adenylyl cyclase, and different regions of this trong>receptortrong> molecule are required for the activation of different signaltrong>introng>g pathways. A mutation trong>introng> this gene results trong>introng> somatostattrong>introng> analog resistance. Alternatively spliced transcript variants have been identified trong>introng> this gene.[provided by RefSeq, Feb 2010]
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somatostattrong>introng> trong>receptortrong> 4
Somatostattrong>introng> acts at many sites to trong>introng>hibit the release of many hormones and other secretory protetrong>introng>s. The biologic effects of somatostattrong>introng> are probably mediated by a family of G protetrong>introng>-coupled trong>receptortrong>s that are expressed trong>introng> a tissue-specific manner. SSTR4 is a member of the superfamily of trong>receptortrong>s havtrong>introng>g seven transmembrane segments and is expressed trong>introng> highest levels trong>introng> fetal and adult bratrong>introng> and lung. [provided by RefSeq, Jul 2008]
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low density lipoprotetrong>introng> trong>receptortrong> adaptor protetrong>introng> 1
The protetrong>introng> encoded by this gene is a cytosolic protetrong>introng> which contatrong>introng>s a phosphotyrostrong>introng>e btrong>introng>dtrong>introng>g (PTD) domatrong>introng>. The PTD domatrong>introng> has been found to trong>introng>teract with the cytoplasmic tail of the LDL trong>receptortrong>. Mutations trong>introng> this gene lead to LDL trong>receptortrong> malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 6, subfamily C, member 69 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily BC, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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lamtrong>introng> B trong>receptortrong>
The protetrong>introng> encoded by this gene belongs to the ERG4/ERG24 family. It localized trong>introng> the nuclear envelope trong>introng>ner membrane and anchors the lamtrong>introng>a and the heterochromattrong>introng> to the membrane. It may mediate trong>introng>teraction between chromattrong>introng> and lamtrong>introng> B. Mutations of this gene has been associated with autosomal recessive HEM/Greenberg skeletal dysplasia. Alternative splictrong>introng>g occurs at this locus and two transcript variants encodtrong>introng>g the same protetrong>introng> have been identified. [provided by RefSeq, Jul 2008]
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gamma-amtrong>introng>obutyric acid (GABA) A trong>receptortrong>, alpha 5
GABA is the major trong>introng>hibitory neurotransmitter trong>introng> the mammalian bratrong>introng> where it acts at GABA-A trong>receptortrong>s, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazeptrong>introng>es that btrong>introng>d to the GABA-A trong>receptortrong>. At least 16 disttrong>introng>ct subunits of GABA-A trong>receptortrong>s have been identified. Transcript variants utiliztrong>introng>g three different alternative non-codtrong>introng>g first exons have been described. [provided by RefSeq, Jul 2008]
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gamma-amtrong>introng>obutyric acid (GABA) A trong>receptortrong>, alpha 4
Gamma-amtrong>introng>obutyric acid (GABA) is the major trong>introng>hibitory neurotransmitter trong>introng> the mammalian bratrong>introng> where it acts at GABA-A trong>receptortrong>s, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazeptrong>introng>es that btrong>introng>d to the GABA-A trong>receptortrong>. At least 16 disttrong>introng>ct subunits of GABA-A trong>receptortrong>s have been identified. This gene encodes subunit alpha-4, which is trong>introng>volved trong>introng> the etiology of autism and eventually trong>introng>creases autism risk through trong>introng>teraction with another subunit, gamma-amtrong>introng>obutyric acid trong>receptortrong> trong>betatrong>-1 (GABRB1). Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found trong>introng> this gene.[provided by RefSeq, Feb 2011]
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gamma-amtrong>introng>obutyric acid (GABA) A trong>receptortrong>, alpha 6
GABA is the major trong>introng>hibitory neurotransmitter trong>introng> the mammalian bratrong>introng> where it acts at GABA-A trong>receptortrong>s, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazeptrong>introng>es that btrong>introng>d to the GABA-A trong>receptortrong>. At least 16 disttrong>introng>ct subunits of GABA-A trong>receptortrong>s have been identified. [provided by RefSeq, Jul 2008]
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gamma-amtrong>introng>obutyric acid (GABA) A trong>receptortrong>, alpha 1
This gene encodes a gamma-amtrong>introng>obutyric acid (GABA) trong>receptortrong>. GABA is the major trong>introng>hibitory neurotransmitter trong>introng> the mammalian bratrong>introng> where it acts at GABA-A trong>receptortrong>s, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazeptrong>introng>es that btrong>introng>d to the GABA-A trong>receptortrong>. GABA-A trong>receptortrong>s are pentameric, consisttrong>introng>g of protetrong>introng>s from several subunit classes: alpha, trong>betatrong>, gamma, delta and rho. Mutations trong>introng> this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encodtrong>introng>g the same protetrong>introng> have been identified for this gene. [provided by RefSeq, Jul 2008]
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gamma-amtrong>introng>obutyric acid (GABA) A trong>receptortrong>, alpha 3
GABA is the major trong>introng>hibitory neurotransmitter trong>introng> the mammalian bratrong>introng> where it acts at GABA-A trong>receptortrong>s, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazeptrong>introng>es that btrong>introng>d to the GABA-A trong>receptortrong>. At least 16 disttrong>introng>ct subunits of GABA-A trong>receptortrong>s have been identified. [provided by RefSeq, Jul 2008]
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gamma-amtrong>introng>obutyric acid (GABA) A trong>receptortrong>, alpha 2
GABA is the major trong>introng>hibitory neurotransmitter trong>introng> the mammalian bratrong>introng> where it acts at GABA-A trong>receptortrong>s, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazeptrong>introng>es that btrong>introng>d to the GABA-A trong>receptortrong>. At least 16 disttrong>introng>ct subunits of GABA-A trong>receptortrong>s have been identified. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
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glutamate trong>receptortrong>, ionotropic, AMPA 2
Glutamate trong>receptortrong>s are the predomtrong>introng>ant excitatory neurotransmitter trong>receptortrong>s trong>introng> the mammalian bratrong>introng> and are activated trong>introng> a variety of normal neurophysiologic processes. This gene product belongs to a family of glutamate trong>receptortrong>s that are sensitive to alpha-amtrong>introng>o-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA), and function as ligand-activated cation channels. These channels are assembled from 4 related subunits, GRIA1-4. The subunit encoded by this gene (GRIA2) is subject to RNA edittrong>introng>g (CAG->CGG; Q->R) withtrong>introng> the second transmembrane domatrong>introng>, which is thought to render the channel impermeable to Ca(2+). Human and animal studies suggest that pre-mRNA edittrong>introng>g is essential for bratrong>introng> function, and defective GRIA2 RNA edittrong>introng>g at the Q/R site may be relevant to amyotrophic lateral sclerosis (ALS) etiology. Alternative splictrong>introng>g, resulttrong>introng>g trong>introng> transcript variants encodtrong>introng>g different isoforms, (trong>introng>cludtrong>introng>g the flip and flop isoforms that vary trong>introng> their signal transduction properties), has been noted for this gene. [provided by RefSeq, Jul 2008]
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glutamate trong>receptortrong>, ionotropic, AMPA 1
Glutamate trong>receptortrong>s are the predomtrong>introng>ant excitatory neurotransmitter trong>receptortrong>s trong>introng> the mammalian bratrong>introng> and are activated trong>introng> a variety of normal neurophysiologic processes. These trong>receptortrong>s are heteromeric protetrong>introng> complexes with multiple subunits, each possesstrong>introng>g transmembrane regions, and all arranged to form a ligand-gated ion channel. The classification of glutamate trong>receptortrong>s is based on their activation by different pharmacologic agonists. This gene belongs to a family of alpha-amtrong>introng>o-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) trong>receptortrong>s. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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neuropeptide Y trong>receptortrong> Y5
The protetrong>introng> encoded by this gene is a trong>receptortrong> for neuropeptide Y and peptide YY. The encoded protetrong>introng> appears to be trong>introng>volved trong>introng> regulattrong>introng>g food trong>introng>take, with defects trong>introng> this gene betrong>introng>g associated with eattrong>introng>g disorders. Also, the encoded protetrong>introng> is trong>introng>volved trong>introng> a pathway that protects neuroblastoma cells from chemotherapy-trong>introng>duced cell death, providtrong>introng>g a possible therapeutic target agatrong>introng>st neuroblastoma. Three transcript variants encodtrong>introng>g the same protetrong>introng> have been found for this gene. [provided by RefSeq, Nov 2015]
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opiate trong>receptortrong>-like 1
The protetrong>introng> encoded by this gene is a member of the 7 transmembrane-spanntrong>introng>g G protetrong>introng>-coupled trong>receptortrong> family, and functions as a trong>receptortrong> for the endogenous, opioid-related neuropeptide, nocicepttrong>introng>/orphantrong>introng> FQ. This trong>receptortrong>-ligand system modulates a variety of biological functions and neurobehavior, trong>introng>cludtrong>introng>g stress responses and anxiety behavior, learntrong>introng>g and memory, locomotor activity, and trong>introng>flammatory and immune responses. A promoter region between this gene and the 5'-adjacent RGS19 (regulator of G-protetrong>introng> signaltrong>introng>g 19) gene on the opposite strand functions bi-directionally as a core-promoter for both genes, suggesttrong>introng>g co-operative transcriptional regulation of these two functionally related genes. Alternatively spliced transcript variants have been described for this gene. A recent study provided evidence for translational readthrough trong>introng> this gene, and expression of an additional C-termtrong>introng>ally extended isoform via the use of an alternative trong>introng>-frame translation termtrong>introng>ation codon. [provided by RefSeq, Dec 2017]
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muscle, skeletal, trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase
This gene encodes a muscle-specific tyrostrong>introng>e ktrong>introng>ase trong>receptortrong>. The encoded protetrong>introng> may play a role trong>introng> clustertrong>introng>g of the acetylcholtrong>introng>e trong>receptortrong> trong>introng> the postsynaptic neuromuscular junction. Mutations trong>introng> this gene have been associated with congenital myasthenic syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]
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estrogen-related trong>receptortrong> alpha
The protetrong>introng> encoded by this gene is a nuclear trong>receptortrong> that is most closely related to the estrogen trong>receptortrong>. This protetrong>introng> acts as a site-specific transcription factor and trong>introng>teracts with members of the PGC-1 family of transcription cofactors to regulate the expression of most genes trong>introng>volved trong>introng> cellular energy production as well as trong>introng> the process of mitochondrial biogenesis. A processed pseudogene of ESRRA is located on chromosome 13q12.1. [provided by RefSeq, Jun 2019]
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complement component (3b/4b) trong>receptortrong> 1 (Knops blood group) pseudogene
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olfactory trong>receptortrong>, family 5, subfamily H, member 2 pseudogene
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NMDA trong>receptortrong> synaptonuclear signaltrong>introng>g and neuronal migration factor
The protetrong>introng> encoded by this gene is trong>introng>volved trong>introng> guidance of olfactory axon projections and migration of lutetrong>introng>iztrong>introng>g hormone-releastrong>introng>g hormone neurons. Defects trong>introng> this gene are a cause of idiopathic hypogonadotropic hypogonadism (IHH). Several transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, May 2010]
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olfactory trong>receptortrong>, family 7, subfamily E, member 26 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 6, subfamily Q, member 1 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jul 2015]
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olfactory trong>receptortrong>, family 4, subfamily X, member 7 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 111 pseudogene
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nuclear trong>receptortrong> coactivator 4 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily A, member 21 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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protetrong>introng> tyrostrong>introng>e phosphatase, non-trong>receptortrong> type 2 pseudogene 1
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vomeronasal 1 trong>receptortrong> 75 pseudogene
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folate trong>receptortrong> 2 (fetal)
The protetrong>introng> encoded by this gene is a member of the folate trong>receptortrong> (FOLR) family, and these genes exist trong>introng> a cluster on chromosome 11. Members of this gene family have a high afftrong>introng>ity for folic acid and for several reduced folic acid derivatives, and they mediate delivery of 5-methyltetrahydrofolate to the trong>introng>terior of cells. This protetrong>introng> has a 68% and 79% sequence homology with the FOLR1 and FOLR3 protetrong>introng>s, respectively. Although this protetrong>introng> was origtrong>introng>ally thought to be specific to placenta, it can also exist trong>introng> other tissues, and it may play a role trong>introng> the transport of methotrexate trong>introng> synovial macrophages trong>introng> rheumatoid arthritis patients. Multiple transcript variants that encode the same protetrong>introng> have been found for this gene. [provided by RefSeq, Jul 2008]
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folate trong>receptortrong> 3 (gamma)
This gene encodes a member of the folate trong>receptortrong> (FOLR) family of protetrong>introng>s, which have a high afftrong>introng>ity for folic acid and for several reduced folic acid derivatives, and mediate delivery of 5-methyltetrahydrofolate to the trong>introng>terior of cells. Expression of this gene may be elevated trong>introng> ovarian and primary peritoneal carctrong>introng>oma. This gene is present trong>introng> a gene cluster on chromosome 11. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Dec 2015]
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taste trong>receptortrong>, type 2, member 67 pseudogene
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leukocyte immunoglobultrong>introng>-like trong>receptortrong>, subfamily B (with TM and ITIM domatrong>introng>s), member 5
This gene is a member of the leukocyte immunoglobultrong>introng>-like trong>receptortrong> (LIR) family, which is found trong>introng> a gene cluster at chromosomal region 19q13.4. The encoded protetrong>introng> belongs to the subfamily B class of LIR trong>receptortrong>s which contatrong>introng> two or four extracellular immunoglobultrong>introng> domatrong>introng>s, a transmembrane domatrong>introng>, and two to four cytoplasmic immunotrong>receptortrong> tyrostrong>introng>e-based trong>introng>hibitory motifs (ITIMs). Several other LIR subfamily B trong>receptortrong>s are expressed on immune cells where they btrong>introng>d to MHC class I molecules on antigen-presenttrong>introng>g cells and trong>introng>hibit stimulation of an immune response. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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leukocyte immunoglobultrong>introng>-like trong>receptortrong>, subfamily B (with TM and ITIM domatrong>introng>s), member 4
This gene is a member of the leukocyte immunoglobultrong>introng>-like trong>receptortrong> (LIR) family, which is found trong>introng> a gene cluster at chromosomal region 19q13.4. The encoded protetrong>introng> belongs to the subfamily B class of LIR trong>receptortrong>s which contatrong>introng> two or four extracellular immunoglobultrong>introng> domatrong>introng>s, a transmembrane domatrong>introng>, and two to four cytoplasmic immunotrong>receptortrong> tyrostrong>introng>e-based trong>introng>hibitory motifs (ITIMs). The trong>receptortrong> is expressed on immune cells where it btrong>introng>ds to MHC class I molecules on antigen-presenttrong>introng>g cells and transduces a negative signal that trong>introng>hibits stimulation of an immune response. The trong>receptortrong> can also function trong>introng> antigen capture and presentation. It is thought to control trong>introng>flammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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leukocyte immunoglobultrong>introng>-like trong>receptortrong>, subfamily B (with TM and ITIM domatrong>introng>s), member 3
This gene is a member of the leukocyte immunoglobultrong>introng>-like trong>receptortrong> (LIR) family, which is found trong>introng> a gene cluster at chromosomal region 19q13.4. The encoded protetrong>introng> belongs to the subfamily B class of LIR trong>receptortrong>s which contatrong>introng> two or four extracellular immunoglobultrong>introng> domatrong>introng>s, a transmembrane domatrong>introng>, and two to four cytoplasmic immunotrong>receptortrong> tyrostrong>introng>e-based trong>introng>hibitory motifs (ITIMs). The trong>receptortrong> is expressed on immune cells where it btrong>introng>ds to MHC class I molecules on antigen-presenttrong>introng>g cells and transduces a negative signal that trong>introng>hibits stimulation of an immune response. It is thought to control trong>introng>flammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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leukocyte immunoglobultrong>introng>-like trong>receptortrong>, subfamily B (with TM and ITIM domatrong>introng>s), member 2
This gene is a member of the leukocyte immunoglobultrong>introng>-like trong>receptortrong> (LIR) family, which is found trong>introng> a gene cluster at chromosomal region 19q13.4. The encoded protetrong>introng> belongs to the subfamily B class of LIR trong>receptortrong>s which contatrong>introng> two or four extracellular immunoglobultrong>introng> domatrong>introng>s, a transmembrane domatrong>introng>, and two to four cytoplasmic immunotrong>receptortrong> tyrostrong>introng>e-based trong>introng>hibitory motifs (ITIMs). The trong>receptortrong> is expressed on immune cells where it btrong>introng>ds to MHC class I molecules on antigen-presenttrong>introng>g cells and transduces a negative signal that trong>introng>hibits stimulation of an immune response. It is thought to control trong>introng>flammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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leukocyte immunoglobultrong>introng>-like trong>receptortrong>, subfamily B (with TM and ITIM domatrong>introng>s), member 1
This gene is a member of the leukocyte immunoglobultrong>introng>-like trong>receptortrong> (LIR) family, which is found trong>introng> a gene cluster at chromosomal region 19q13.4. The encoded protetrong>introng> belongs to the subfamily B class of LIR trong>receptortrong>s which contatrong>introng> two or four extracellular immunoglobultrong>introng> domatrong>introng>s, a transmembrane domatrong>introng>, and two to four cytoplasmic immunotrong>receptortrong> tyrostrong>introng>e-based trong>introng>hibitory motifs (ITIMs). The trong>receptortrong> is expressed on immune cells where it btrong>introng>ds to MHC class I molecules on antigen-presenttrong>introng>g cells and transduces a negative signal that trong>introng>hibits stimulation of an immune response. It is thought to control trong>introng>flammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 6, subfamily C, member 71 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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putative vomeronasal trong>receptortrong>-like protetrong>introng> 4
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olfactory trong>receptortrong>, family 5, subfamily BR, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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ligand dependent nuclear trong>receptortrong> corepressor-like
This gene encodes a transcription factor that appears to function trong>introng> spermatogenesis. Polymorphisms trong>introng> this gene are associated with measures of skeletal frame size and adult height. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Oct 2009]
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ktrong>introng>ecttrong>introng> 1 (ktrong>introng>estrong>introng> trong>receptortrong>)
This gene encodes an trong>introng>tegral membrane protetrong>introng> that is a member of the ktrong>introng>ecttrong>introng> protetrong>introng> family. The encoded protetrong>introng> is primarily localized to the endoplasmic reticulum membrane. This protetrong>introng> btrong>introng>ds ktrong>introng>estrong>introng> and may be trong>introng>volved trong>introng> trong>introng>tracellular organelle motility. This protetrong>introng> also btrong>introng>ds translation elongation factor-delta and may be trong>introng>volved trong>introng> the assembly of the elongation factor-1 complex. Alternate splictrong>introng>g results trong>introng> multiple transcript variants of this gene. [provided by RefSeq, Aug 2012]
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neuropeptide S trong>receptortrong> 1
This gene encodes a member of the vasopresstrong>introng>/oxytoctrong>introng> subfamily of G protetrong>introng>-coupled trong>receptortrong>s. The encoded membrane protetrong>introng> acts as a trong>receptortrong> for neuropeptide S and affects a variety of cellular processes through its signaltrong>introng>g. trong>Introng>creased expression of this gene trong>introng> ciliated cells of the respiratory epithelium and trong>introng> bronchial smooth muscle cells is associated with asthma. Polymorphisms trong>introng> this gene have also been associated with asthma susceptibility, panic disorders, trong>introng>flammatory bowel disease, and rheumatoid arthritis. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jul 2014]
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olfactory trong>receptortrong>, family 51, subfamily A, member 3 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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lymphatic vessel endothelial hyaluronan trong>receptortrong> 1
This gene encodes a type I trong>introng>tegral membrane glycoprotetrong>introng>. The encoded protetrong>introng> acts as a trong>receptortrong> and btrong>introng>ds to both soluble and immobilized hyaluronan. This protetrong>introng> may function trong>introng> lymphatic hyaluronan transport and have a role trong>introng> tumor metastasis. [provided by RefSeq, Jul 2008]
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discoidtrong>introng> domatrong>introng> trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase 2
This gene encodes a member of the discoidtrong>introng> domatrong>introng> trong>receptortrong> subclass of the trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase (RTKs) protetrong>introng> family. RTKs play a key role trong>introng> the communication of cells with their microenvironment. The encoded protetrong>introng> is a collagen-trong>introng>duced trong>receptortrong> that activates signal transduction pathways trong>introng>volved trong>introng> cell adhesion, proliferation, and extracellular matrix remodeltrong>introng>g. This protetrong>introng> is expressed trong>introng> numerous cell types and may alos be trong>introng>volved trong>introng> wound repair and regulate tumor growth and trong>introng>vasiveness. Mutations trong>introng> this gene are the cause of short limb-hand type spondylometaepiphyseal dysplasia. [provided by RefSeq, Aug 2017]
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discoidtrong>introng> domatrong>introng> trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase 1
trong>Receptortrong> tyrostrong>introng>e ktrong>introng>ases play a key role trong>introng> the communication of cells with their microenvironment. These ktrong>introng>ases are trong>introng>volved trong>introng> the regulation of cell growth, differentiation and metabolism. The protetrong>introng> encoded by this gene belongs to a subfamily of tyrostrong>introng>e ktrong>introng>ase trong>receptortrong>s with homology to Dictyostelium discoideum protetrong>introng> discoidtrong>introng> I trong>introng> their extracellular domatrong>introng>, and that are activated by various types of collagen. Expression of this protetrong>introng> is restricted to epithelial cells, particularly trong>introng> the kidney, lung, gastrotrong>introng>testtrong>introng>al tract, and bratrong>introng>. trong>Introng> addition, it has been shown to be significantly overexpressed trong>introng> several human tumors. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]
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olfactory trong>receptortrong> 4N4
Predicted to enable olfactory trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway and detection of chemical stimulus trong>introng>volved trong>introng> sensory perception of smell. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong>, family 6, subfamily M, member 1 pseudogene
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olfactory trong>receptortrong>, family 5, subfamily B, member 3 pseudogene
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olfactory trong>receptortrong>, family 6, subfamily M, member 1 pseudogene
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olfactory trong>receptortrong>, family 6, subfamily M, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily B, member 2 pseudogene
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nuclear trong>receptortrong> btrong>introng>dtrong>introng>g factor 2
trong>Introng>volved trong>introng> autophagy. Located trong>introng> cytoplasm and phosphatidyltrong>introng>ositol 3-ktrong>introng>ase complex, class III. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong>, family 8, subfamily K, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily J, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily J, member 3
This gene encodes a G-protetrong>introng>-coupled trong>receptortrong> (GPCR) that functions as an olfactory trong>receptortrong>. Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose to trong>introng>itiate a neuronal response that triggers the perception of a smell. The protetrong>introng> encoded by this gene responds to cis-3-hexen-1-ol, which is released by wounded plants, trong>introng>cludtrong>introng>g cut grass. This gene is situated trong>introng> a cluster of similar olfactory-trong>receptortrong> codtrong>introng>g genes on chromosome 6. [provided by RefSeq, May 2013]
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trong>introng>terleuktrong>introng> 17 trong>receptortrong> E
This gene encodes a transmembrane protetrong>introng> that functions as the trong>receptortrong> for trong>introng>terleuktrong>introng>-17C. The encoded protetrong>introng> signals to downstream components of the mitogen activated protetrong>introng> ktrong>introng>ase (MAPK) pathway. Activity of this protetrong>introng> is important trong>introng> the immune response to bacterial pathogens. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2013]
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trong>introng>terleuktrong>introng> 17 trong>receptortrong> D
This gene encodes a membrane protetrong>introng> belongtrong>introng>g to the trong>introng>terleuktrong>introng>-17 trong>receptortrong> (IL-17R) protetrong>introng> family. The encoded protetrong>introng> is a component of the trong>introng>terleuktrong>introng>-17 trong>receptortrong> signaltrong>introng>g complex, and the trong>introng>teraction between this protetrong>introng> and IL-17R does not require the trong>introng>terleuktrong>introng>. The gene product also affects fibroblast growth factor signaltrong>introng>g, trong>introng>hibittrong>introng>g or stimulattrong>introng>g growth through MAPK/ERK signaltrong>introng>g. Alternate splictrong>introng>g generates multiple transcript variants encodtrong>introng>g disttrong>introng>ct isoforms. [provided by RefSeq, Jan 2016]
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trong>introng>terleuktrong>introng> 17 trong>receptortrong> C
This gene encodes a strong>introng>gle-pass type I membrane protetrong>introng> that shares similarity with the trong>introng>terleuktrong>introng>-17 trong>receptortrong> (IL-17RA). Unlike IL-17RA, which is predomtrong>introng>antly expressed trong>introng> hemopoietic cells, and btrong>introng>ds with high afftrong>introng>ity to only IL-17A, this protetrong>introng> is expressed trong>introng> nonhemopoietic tissues, and btrong>introng>ds both IL-17A and IL-17F with similar afftrong>introng>ities. The protrong>introng>flammatory cytoktrong>introng>es, IL-17A and IL-17F, have been implicated trong>introng> the progression of trong>introng>flammatory and autoimmune diseases. Multiple alternatively spliced transcript variants encodtrong>introng>g different isoforms have been detected for this gene, and it has been proposed that soluble, secreted protetrong>introng>s lacktrong>introng>g transmembrane and trong>introng>tracellular domatrong>introng>s may function as extracellular antagonists to cytoktrong>introng>e signaltrong>introng>g. [provided by RefSeq, Feb 2011]
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trong>introng>terleuktrong>introng> 17 trong>receptortrong> A
trong>Introng>terleuktrong>introng> 17A (IL17A) is a protrong>introng>flammatory cytoktrong>introng>e secreted by activated T-lymphocytes. It is a potent trong>introng>ducer of the maturation of CD34-positive hematopoietic precursors trong>introng>to neutrophils. The transmembrane protetrong>introng> encoded by this gene (trong>introng>terleuktrong>introng> 17A trong>receptortrong>; IL17RA) is a ubiquitous type I membrane glycoprotetrong>introng> that btrong>introng>ds with low afftrong>introng>ity to trong>introng>terleuktrong>introng> 17A. trong>Introng>terleuktrong>introng> 17A and its trong>receptortrong> play a pathogenic role trong>introng> many trong>introng>flammatory and autoimmune diseases such as rheumatoid arthritis. Like other cytoktrong>introng>e trong>receptortrong>s, this trong>receptortrong> likely has a multimeric structure. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g different isoforms. [provided by RefSeq, Feb 2014]
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nuclear trong>receptortrong> corepressor 2
This gene encodes a nuclear trong>receptortrong> co-repressor that mediates transcriptional silenctrong>introng>g of certatrong>introng> target genes. The encoded protetrong>introng> is a member of a family of thyroid hormone- and rettrong>introng>oic acid trong>receptortrong>-associated co-repressors. This protetrong>introng> acts as part of a multisubunit complex which trong>introng>cludes histone deacetylases to modify chromattrong>introng> structure that prevents basal transcriptional activity of target genes. Aberrant expression of this gene is associated with certatrong>introng> cancers. Alternate splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g different isoforms.[provided by RefSeq, Apr 2011]
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nuclear trong>receptortrong> corepressor 1
This gene encodes a protetrong>introng> that mediates ligand-trong>introng>dependent transcription repression of thyroid-hormone and rettrong>introng>oic-acid trong>receptortrong>s by promottrong>introng>g chromattrong>introng> condensation and preventtrong>introng>g access of the transcription machtrong>introng>ery. It is part of a complex which also trong>introng>cludes histone deacetylases and transcriptional regulators similar to the yeast protetrong>introng> Strong>introng>3p. This gene is located between the Charcot-Marie-Tooth and Smith-Magenis syndrome critical regions on chromosome 17. Alternate splictrong>introng>g results trong>introng> multiple transcript variants. Pseudogenes of this gene are found on chromosomes 17 and 20.[provided by RefSeq, Jun 2010]
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free fatty acid trong>receptortrong> 4
This gene encodes a G protetrong>introng>-coupled trong>receptortrong> (GPR) which belongs to the rhodopstrong>introng> family of GPRs. The encoded protetrong>introng> functions as a trong>receptortrong> for free fatty acids, trong>introng>cludtrong>introng>g omega-3, and participates trong>introng> suppresstrong>introng>g anti-trong>introng>flammatory responses and trong>introng>sultrong>introng> sensitiztrong>introng>g. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
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G protetrong>introng>-coupled trong>receptortrong> 137C
Predicted to be trong>introng>volved trong>introng> positive regulation of TORC1 signaltrong>introng>g. Located trong>introng> lysosomal membrane. [provided by Alliance of Genome Resources, Mar 2025]
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G protetrong>introng>-coupled trong>receptortrong> 137B
trong>Introng>volved trong>introng> positive regulation of TORC1 signaltrong>introng>g; positive regulation of protetrong>introng> localization to lysosome; and regulation of autophagy. Located trong>introng> lysosomal membrane. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong>, family 4, subfamily V, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily K, member 5
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily K, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily K, member 3 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jan 2017]
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olfactory trong>receptortrong>, family 4, subfamily K, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 1, subfamily X, member 5 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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cytoktrong>introng>e trong>receptortrong>-like factor 3 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily AG, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily AG, member 1 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jul 2015]
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olfactory trong>receptortrong>, family 5, subfamily B, member 15 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 1, subfamily AA, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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pyroglutamylated RFamide peptide trong>receptortrong>
Enables G protetrong>introng>-coupled trong>receptortrong> activity. trong>Introng>volved trong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway. Predicted to be located trong>introng> non-motile cilium. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong>, family 5, subfamily M, member 12 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 95 pseudogene
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olfactory trong>receptortrong>, family 7, subfamily E, member 24 pseudogene
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olfactory trong>receptortrong>, family 7, subfamily E, member 97 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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platelet-activattrong>introng>g factor trong>receptortrong>
This gene encodes a seven-transmembrane G-protetrong>introng>-coupled trong>receptortrong> for platelet-activattrong>introng>g factor (PAF) that localizes to lipid rafts and/or caveolae trong>introng> the cell membrane. PAF (1-0-alkyl-2-acetyl-sn-glycero-3-phosphorylcholtrong>introng>e) is a phospholipid that plays a significant role trong>introng> oncogenic transformation, tumor growth, angiogenesis, metastasis, and pro-trong>introng>flammatory processes. Btrong>introng>dtrong>introng>g of PAF to the PAF-trong>receptortrong> (PAFR) stimulates numerous signal transduction pathways trong>introng>cludtrong>introng>g phospholipase C, D, A2, mitogen-activated protetrong>introng> ktrong>introng>ases (MAPKs), and the phosphatidyltrong>introng>ositol-calcium second messenger system. Followtrong>introng>g PAFR activation, cells become rapidly desensitized and this refractory state is dependent on PAFR phosphorylation, trong>introng>ternalization, and down-regulation. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Aug 2011]
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olfactory trong>receptortrong>, family 7, subfamily E, member 35 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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thyroid hormone trong>receptortrong> associated protetrong>introng> 3
Enables nuclear thyroid hormone trong>receptortrong> btrong>introng>dtrong>introng>g activity; phosphoprotetrong>introng> btrong>introng>dtrong>introng>g activity; and transcription coactivator activity. trong>Introng>volved trong>introng> positive regulation of circadian rhythm and regulation of gene expression. Acts upstream of or withtrong>introng> positive regulation of transcription by RNA polymerase II. Located trong>introng> exon-exon junction complex and nuclear speck. Part of mediator complex. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong>, family 2, subfamily AL, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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opioid trong>receptortrong>, delta 1
Enables G protetrong>introng>-coupled enkephaltrong>introng> trong>receptortrong> activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g G protetrong>introng>-coupled opioid trong>receptortrong> signaltrong>introng>g pathway; cellular response to hypoxia; and positive regulation of peptidyl-sertrong>introng>e phosphorylation. Located trong>introng> plasma membrane. Implicated trong>introng> alcohol dependence; alcohol use disorder; drug dependence (multiple); opioid abuse; and withdrawal disorder. Biomarker of opioid abuse. [provided by Alliance of Genome Resources, Mar 2025]
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vitamtrong>introng> D (1,25- dihydroxyvitamtrong>introng> D3) trong>receptortrong>
This gene encodes vitamtrong>introng> D3 trong>receptortrong>, which is a member of the nuclear hormone trong>receptortrong> superfamily of ligand-trong>introng>ducible transcription factors. This trong>receptortrong> also functions as a trong>receptortrong> for the secondary bile acid, lithocholic acid. Downstream targets of vitamtrong>introng> D3 trong>receptortrong> are prtrong>introng>cipally trong>introng>volved trong>introng> mtrong>introng>eral metabolism, though this trong>receptortrong> regulates a variety of other metabolic pathways, such as those trong>introng>volved trong>introng> immune response and cancer. Mutations trong>introng> this gene are associated with type II vitamtrong>introng> D-resistant rickets. A strong>introng>gle nucleotide polymorphism trong>introng> the trong>introng>itiation codon results trong>introng> an alternate translation start site three codons downstream. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been described for this gene. A recent study provided evidence for translational readthrough trong>introng> this gene, and expression of an additional C-termtrong>introng>ally extended isoform via the use of an alternative trong>introng>-frame translation termtrong>introng>ation codon. [provided by RefSeq, Jun 2018]
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olfactory trong>receptortrong>, family 10, subfamily A, member 3
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily A, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily A, member 5
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily A, member 4
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily A, member 7
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily A, member 6 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jun 2015]
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olfactory trong>receptortrong>, family 52, subfamily J, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily G, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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trong>introng>terleuktrong>introng> 5 trong>receptortrong>, alpha
The protetrong>introng> encoded by this gene is an trong>introng>terleuktrong>introng> 5 specific subunit of a heterodimeric cytoktrong>introng>e trong>receptortrong>. The trong>receptortrong> is comprised of a ligand specific alpha subunit and a signal transductrong>introng>g trong>betatrong> subunit shared by the trong>receptortrong>s for trong>introng>terleuktrong>introng> 3 (IL3), colony stimulattrong>introng>g factor 2 (CSF2/GM-CSF), and trong>introng>terleuktrong>introng> 5 (IL5). The btrong>introng>dtrong>introng>g of this protetrong>introng> to IL5 depends on the trong>betatrong> subunit. The trong>betatrong> subunit is activated by the ligand btrong>introng>dtrong>introng>g, and is required for the biological activities of IL5. This protetrong>introng> has been found to trong>introng>teract with syndecan btrong>introng>dtrong>introng>g protetrong>introng> (syntentrong>introng>), which is required for IL5 mediated activation of the transcription factor SOX4. Several alternatively spliced transcript variants encodtrong>introng>g four disttrong>introng>ct isoforms have been reported. [provided by RefSeq, Jul 2011]
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olfactory trong>receptortrong>, family 6, subfamily Y, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 156 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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lepttrong>introng> trong>receptortrong>
The protetrong>introng> encoded by this gene belongs to the gp130 family of cytoktrong>introng>e trong>receptortrong>s that are known to stimulate gene transcription via activation of cytosolic STAT protetrong>introng>s. This protetrong>introng> is a trong>receptortrong> for lepttrong>introng> (an adipocyte-specific hormone that regulates body weight), and is trong>introng>volved trong>introng> the regulation of fat metabolism, as well as trong>introng> a novel hematopoietic pathway that is required for normal lymphopoiesis. Mutations trong>introng> this gene have been associated with obesity and pituitary dysfunction. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been described for this gene. It is noteworthy that this gene and LEPROT gene (GeneID:54741) share the same promoter and the first 2 exons, however, encode disttrong>introng>ct protetrong>introng>s (PMID:9207021).[provided by RefSeq, Nov 2010]
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olfactory trong>receptortrong> 11G2-like
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platelet endothelial aggregation trong>receptortrong> 1
PEAR1 is a platelet trong>receptortrong> that signals upon the formation of platelet-platelet contacts trong>introng>dependent of platelet activation and secondary to platelet aggregation (Nanda et al., 2005 [PubMed 15851471]).[supplied by OMIM, Mar 2008]
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olfactory trong>receptortrong>, family 6, subfamily C, member 65
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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estrogen trong>receptortrong> btrong>introng>dtrong>introng>g site associated, antigen, 9
This gene was identified as an estrogen-responsive gene. Regulation of transcription by estrogen is mediated by estrogen trong>receptortrong>, which btrong>introng>ds to the estrogen-responsive element found trong>introng> the 5'-flanktrong>introng>g region of this gene. The encoded protetrong>introng> is a tumor-associated antigen that is expressed at high frequency trong>introng> a variety of cancers. Alternate splictrong>introng>g results trong>introng> multiple transcript variants. A pseudogene of this gene has been deftrong>introng>ed on chromosome 10. [provided by RefSeq, Jul 2013]
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vomeronasal 1 trong>receptortrong> 42 pseudogene
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scavenger trong>receptortrong> class B, member 2
The protetrong>introng> encoded by this gene is a type III glycoprotetrong>introng> that is located primarily trong>introng> limittrong>introng>g membranes of lysosomes and endosomes. Earlier studies trong>introng> mice and rat suggested that this protetrong>introng> may participate trong>introng> membrane transportation and the reorganization of endosomal/lysosomal compartment. The protetrong>introng> deficiency trong>introng> mice was reported to impair cell membrane transport processes and cause pelvic junction obstruction, deafness, and peripheral neuropathy. Further studies trong>introng> human showed that this protetrong>introng> is a ubiquitously expressed protetrong>introng> and that it is trong>introng>volved trong>introng> the pathogenesis of HFMD (hand, foot, and mouth disease) caused by enterovirus-71 and possibly by coxsackievirus A16. Mutations trong>introng> this gene caused an autosomal recessive progressive myoclonic epilepsy-4 (EPM4), also known as action myoclonus-renal failure syndrome (AMRF). Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]
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scavenger trong>receptortrong> class B, member 1
The protetrong>introng> encoded by this gene is a plasma membrane trong>receptortrong> for high density lipoprotetrong>introng> cholesterol (HDL). The encoded protetrong>introng> mediates cholesterol transfer to and from HDL. trong>Introng> addition, this protetrong>introng> is a trong>receptortrong> for hepatitis C virus glycoprotetrong>introng> E2 and facilitates cell entry by the virus, SARS-CoV2. [provided by RefSeq, Oct 2021]
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olfactory trong>receptortrong>, family 1, subfamily H, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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transient trong>receptortrong> potential cation channel, subfamily C, member 2, pseudogene
Predicted to enable diacylglycerol btrong>introng>dtrong>introng>g activity; trong>introng>ositol 1,4,5 trisphosphate btrong>introng>dtrong>introng>g activity; and store-operated calcium channel activity. Predicted to act upstream of or withtrong>introng> several processes, trong>introng>cludtrong>introng>g female courtship behavior; trong>introng>ter-male aggressive behavior; and mattrong>introng>g behavior, sex discrimtrong>introng>ation. Predicted to be located trong>introng> dendrite membrane and endomembrane system. [provided by Alliance of Genome Resources, Mar 2025]
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transient trong>receptortrong> potential cation channel, subfamily C, member 3
The protetrong>introng> encoded by this gene is a membrane protetrong>introng> that can form a non-selective channel permeable to calcium and other cations. The encoded protetrong>introng> appears to be trong>introng>duced to form channels by a trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase-activated phosphatidyltrong>introng>ositol second messenger system and also by depletion of trong>introng>tracellular calcium stores. Two transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
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transient trong>receptortrong> potential cation channel, subfamily C, member 6
The protetrong>introng> encoded by this gene forms a trong>receptortrong>-activated calcium channel trong>introng> the cell membrane. The channel is activated by diacylglycerol and is thought to be under the control of a phosphatidyltrong>introng>ositol second messenger system. Activation of this channel occurs trong>introng>dependently of protetrong>introng> ktrong>introng>ase C and is not triggered by low levels of trong>introng>tracellular calcium. Defects trong>introng> this gene are a cause of focal segmental glomerulosclerosis 2 (FSGS2). [provided by RefSeq, Mar 2009]
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transient trong>receptortrong> potential cation channel, subfamily C, member 4
This gene encodes a member of the canonical subfamily of transient trong>receptortrong> potential cation channels. The encoded protetrong>introng> forms a non-selective calcium-permeable cation channel that is activated by Gq-coupled trong>receptortrong>s and tyrostrong>introng>e ktrong>introng>ases, and plays a role trong>introng> multiple processes trong>introng>cludtrong>introng>g endothelial permeability, vasodilation, neurotransmitter release and cell proliferation. Strong>introng>gle nucleotide polymorphisms trong>introng> this gene may be associated with generalized epilepsy with photosensitivity. Alternatively spliced transcript variants encodtrong>introng>g multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
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olfactory trong>receptortrong>, family 2, subfamily T, member 29
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily T, member 27
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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TNF trong>receptortrong>-associated factor 6 pseudogene 1
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olfactory trong>receptortrong>, family 7, subfamily E, member 83 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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G protetrong>introng>-coupled trong>receptortrong> 32, pseudogene 1
Predicted to enable N-formyl peptide trong>receptortrong> activity and complement trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g complement trong>receptortrong> mediated signaltrong>introng>g pathway; phospholipase C-activattrong>introng>g G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway; and positive regulation of cytosolic calcium ion concentration. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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triiodothyrontrong>introng>e trong>receptortrong> auxiliary protetrong>introng>
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signal sequence trong>receptortrong>, alpha pseudogene 2
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olfactory trong>receptortrong>, family 7, subfamily E, member 24 pseudogene
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taste trong>receptortrong> type 1 member 2-like
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olfactory trong>receptortrong>, family 8, subfamily I, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily B, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily B, member 3
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily B, member 6
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily AC, member 2 pseudogene
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olfactory trong>receptortrong>, family 7, subfamily E, member 24 pseudogene
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trong>introng>terleuktrong>introng>-1 trong>receptortrong>-associated ktrong>introng>ase 2
IRAK2 encodes the trong>introng>terleuktrong>introng>-1 trong>receptortrong>-associated ktrong>introng>ase 2, one of two putative sertrong>introng>e/threontrong>introng>e ktrong>introng>ases that become associated with the trong>introng>terleuktrong>introng>-1 trong>receptortrong> (IL1R) upon stimulation. IRAK2 is reported to participate trong>introng> the IL1-trong>introng>duced upregulation of NF-kappaB. [provided by RefSeq, Jul 2008]
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trong>introng>terleuktrong>introng>-1 trong>receptortrong>-associated ktrong>introng>ase 3
This gene encodes a member of the trong>introng>terleuktrong>introng>-1 trong>receptortrong>-associated ktrong>introng>ase protetrong>introng> family. Members of this family are essential components of the Toll/IL-R immune signal transduction pathways. This protetrong>introng> is primarily expressed trong>introng> monocytes and macrophages and functions as a negative regulator of Toll-like trong>receptortrong> signaltrong>introng>g. Mutations trong>introng> this gene are associated with a susceptibility to asthma. Alternate splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, May 2010]
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trong>introng>terleuktrong>introng>-1 trong>receptortrong>-associated ktrong>introng>ase 1
This gene encodes the trong>introng>terleuktrong>introng>-1 trong>receptortrong>-associated ktrong>introng>ase 1, one of two putative sertrong>introng>e/threontrong>introng>e ktrong>introng>ases that become associated with the trong>introng>terleuktrong>introng>-1 trong>receptortrong> (IL1R) upon stimulation. This gene is partially responsible for IL1-trong>introng>duced upregulation of the transcription factor NF-kappa B. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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trong>introng>terleuktrong>introng>-1 trong>receptortrong>-associated ktrong>introng>ase 4
This gene encodes a ktrong>introng>ase that activates NF-kappaB trong>introng> both the Toll-like trong>receptortrong> (TLR) and T-cell trong>receptortrong> (TCR) signaltrong>introng>g pathways. The protetrong>introng> is essential for most trong>introng>nate immune responses. Mutations trong>introng> this gene result trong>introng> IRAK4 deficiency and recurrent trong>introng>vasive pneumococcal disease. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
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activtrong>introng> A trong>receptortrong>, type IC
ACVR1C is a type I trong>receptortrong> for the TGFB (see MIM 190180) family of signaltrong>introng>g molecules. Upon ligand btrong>introng>dtrong>introng>g, type I trong>receptortrong>s phosphorylate cytoplasmic SMAD transcription factors, which then translocate to the nucleus and trong>introng>teract directly with DNA or trong>introng> complex with other transcription factors (Bondestam et al., 2001 [PubMed 12063393]).[supplied by OMIM, Mar 2008]
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activtrong>introng> A trong>receptortrong>, type IB
This gene encodes an activtrong>introng> A type IB trong>receptortrong>. Activtrong>introng>s are dimeric growth and differentiation factors which belong to the transformtrong>introng>g growth factor-trong>betatrong> (TGF-trong>betatrong>) superfamily of structurally related signaltrong>introng>g protetrong>introng>s. Activtrong>introng>s signal through a heteromeric complex of trong>receptortrong> sertrong>introng>e ktrong>introng>ases which trong>introng>clude at least two type I and two type II trong>receptortrong>s. This protetrong>introng> is a type I trong>receptortrong> which is essential for signaltrong>introng>g. Mutations trong>introng> this gene are associated with pituitary tumors. Alternate splictrong>introng>g results trong>introng> multiple transcript variants.[provided by RefSeq, Jun 2010]
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gamma-amtrong>introng>obutyric acid (GABA) B trong>receptortrong>, 2
The multi-pass membrane protetrong>introng> encoded by this gene belongs to the G-protetrong>introng> coupled trong>receptortrong> 3 family and GABA-B trong>receptortrong> subfamily. The GABA-B trong>receptortrong>s trong>introng>hibit neuronal activity through G protetrong>introng>-coupled second-messenger systems, which regulate the release of neurotransmitters, and the activity of ion channels and adenylyl cyclase. This trong>receptortrong> subunit forms an active heterodimeric complex with GABA-B trong>receptortrong> subunit 1, neither of which is effective on its own. Allelic variants of this gene have been associated with nicottrong>introng>e dependence.[provided by RefSeq, Jan 2010]
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somatostattrong>introng> trong>receptortrong> 1
Somatostattrong>introng>s are peptide hormones that regulate diverse cellular functions such as neurotransmission, cell proliferation, and endocrtrong>introng>e signaltrong>introng>g as well as trong>introng>hibittrong>introng>g the release of many hormones and other secretory protetrong>introng>s. Somatostattrong>introng> has two active forms of 14 and 28 amtrong>introng>o acids. The biological effects of somatostattrong>introng>s are mediated by a family of G-protetrong>introng> coupled somatostattrong>introng> trong>receptortrong>s that are expressed trong>introng> a tissue-specific manner. The protetrong>introng> encoded by this gene is a member of the superfamily of somatostattrong>introng> trong>receptortrong>s havtrong>introng>g seven transmembrane segments. Somatostattrong>introng> trong>receptortrong>s form homodimers and heterodimers with other members of the superfamily as well as with other G-protetrong>introng> coupled trong>receptortrong>s and trong>receptortrong> tyrostrong>introng>e ktrong>introng>ases. This somatostattrong>introng> trong>receptortrong> has greater afftrong>introng>ity for somatostattrong>introng>-14 than -28. [provided by RefSeq, Jul 2012]
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olfactory trong>receptortrong>, family 7, subfamily E, member 106 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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tyrostrong>introng>e ktrong>introng>ase, non-trong>receptortrong>, 2
This gene encodes a tyrostrong>introng>e ktrong>introng>ase that btrong>introng>ds Cdc42Hs trong>introng> its GTP-bound form and trong>introng>hibits both the trong>introng>trtrong>introng>sic and GTPase-activattrong>introng>g protetrong>introng> (GAP)-stimulated GTPase activity of Cdc42Hs. This btrong>introng>dtrong>introng>g is mediated by a unique sequence of 47 amtrong>introng>o acids C-termtrong>introng>al to an SH3 domatrong>introng>. The protetrong>introng> may be trong>introng>volved trong>introng> a regulatory mechanism that sustatrong>introng>s the GTP-bound active form of Cdc42Hs and which is directly ltrong>introng>ked to a tyrostrong>introng>e phosphorylation signal transduction pathway. Several alternatively spliced transcript variants have been identified from this gene, but the full-length nature of only two transcript variants has been determtrong>introng>ed. [provided by RefSeq, Jul 2008]
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tyrostrong>introng>e ktrong>introng>ase, non-trong>receptortrong>, 1
The protetrong>introng> encoded by this gene belongs to the tyrostrong>introng>e protetrong>introng> ktrong>introng>ase family. Tyrostrong>introng>e protetrong>introng> ktrong>introng>ases are important regulators of trong>introng>tracellular signal transduction pathways, mediattrong>introng>g cellular proliferation, survival, and development. This gene is highly expressed trong>introng> fetal tissues and at lower levels trong>introng> few adult tissues, thus may function trong>introng> signaltrong>introng>g pathways utilized broadly durtrong>introng>g fetal development, and more selectively trong>introng> adult tissues. It plays a negative regulatory role trong>introng> the Ras-Raf1-MAPK pathway, and knockout mice have been shown to develop spontaneous tumors, suggesttrong>introng>g a role as a tumor suppressor gene. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
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proltrong>introng>e-rich nuclear trong>receptortrong> coactivator 2 pseudogene
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adhesion G protetrong>introng>-coupled trong>receptortrong> G4
This gene encodes a G-protetrong>introng> coupled trong>receptortrong> belongtrong>introng>g to a large family of diverse trong>introng>tegral membrane protetrong>introng>s that participate trong>introng> various physiological functions. Members of this superfamily are characterized by a signature 7-transmembrane domatrong>introng> motif. The ligand for this family member is unknown, and it is therefore an orphan trong>receptortrong>. This trong>receptortrong> is known to be expressed trong>introng> normal enterochromafftrong>introng> cells and trong>introng> gastrotrong>introng>testtrong>introng>al neuroendocrtrong>introng>e carctrong>introng>oma cells, and it is therefore considered to be a novel biomarker or target for immunotherapy. [provided by RefSeq, May 2010]
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olfactory trong>receptortrong>, family 2, subfamily S, member 2 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jul 2015]
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G protetrong>introng>-coupled trong>receptortrong> 151
This gene encodes an orphan member of the class A rhodopstrong>introng>-like family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCRs). Withtrong>introng> the rhodopstrong>introng>-like family, this gene is a member of the SOG subfamily that trong>introng>cludes somatostattrong>introng>, opioid, galantrong>introng>, and kisspepttrong>introng> trong>receptortrong>s. The orthologous mouse gene has a restricted pattern of neuronal expression which is trong>introng>duced followtrong>introng>g nerve trong>introng>jury. All GPCRs have a transmembrane domatrong>introng> that trong>introng>cludes seven transmembrane alpha-helices. A general feature of GPCR signaltrong>introng>g is the agonist-trong>introng>duced conformational change trong>introng> the trong>receptortrong>, leadtrong>introng>g to activation of the heterotrimeric G protetrong>introng>. The activated G protetrong>introng> then btrong>introng>ds to and activates numerous downstream effector protetrong>introng>s, which generate second messengers that mediate a broad range of cellular and physiological processes. [provided by RefSeq, Jul 2017]
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G protetrong>introng>-coupled trong>receptortrong> 156
G protetrong>introng>-coupled trong>receptortrong>s (GPCRs) are a large superfamily of cell surface trong>receptortrong>s characterized by 7 helical transmembrane domatrong>introng>s, together with N-termtrong>introng>al extracellular and C-termtrong>introng>al trong>introng>tracellular domatrong>introng>s.[supplied by OMIM, Mar 2008]
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G protetrong>introng>-coupled trong>receptortrong> 155
Enables cholesterol btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g cellular response to amtrong>introng>o acid starvation; cellular response to cholesterol; and positive regulation of TORC1 signaltrong>introng>g. Located trong>introng> extracellular exosome. Is active trong>introng> lysosomal membrane. [provided by Alliance of Genome Resources, Mar 2025]
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G protetrong>introng>-coupled trong>receptortrong> 158
Enables G protetrong>introng>-coupled glyctrong>introng>e trong>receptortrong> activity and enzyme activator activity. trong>Introng>volved trong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway; protetrong>introng> localization to plasma membrane; and regulation of G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway. Is active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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protetrong>introng> tyrostrong>introng>e phosphatase, trong>receptortrong> type, f polypeptide (PTPRF), trong>introng>teracttrong>introng>g protetrong>introng> (liprtrong>introng>), alpha 2
The protetrong>introng> encoded by this gene is a member of the LAR protetrong>introng>-tyrostrong>introng>e phosphatase-trong>introng>teracttrong>introng>g protetrong>introng> (liprtrong>introng>) family. Liprtrong>introng>s trong>introng>teract with members of LAR family of transmembrane protetrong>introng> tyrostrong>introng>e phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprtrong>introng>s are multivalent protetrong>introng>s that form complex structures and act as scaffolds for the recruitment and anchortrong>introng>g of LAR family of tyrostrong>introng>e phosphatases. This protetrong>introng> has been shown to btrong>introng>d the calcium/calmodultrong>introng>-dependent sertrong>introng>e protetrong>introng> ktrong>introng>ase (MAGUK family) protetrong>introng> (also known as CASK) and proposed to regulate higher-order bratrong>introng> functions trong>introng> mammals. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Sep 2013]
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protetrong>introng> tyrostrong>introng>e phosphatase, trong>receptortrong> type, f polypeptide (PTPRF), trong>introng>teracttrong>introng>g protetrong>introng> (liprtrong>introng>), alpha 3
The protetrong>introng> encoded by this gene is a member of the LAR protetrong>introng>-tyrostrong>introng>e phosphatase-trong>introng>teracttrong>introng>g protetrong>introng> (liprtrong>introng>) family. Liprtrong>introng>s trong>introng>teract with members of LAR family of transmembrane protetrong>introng> tyrostrong>introng>e phosphatases, which are known to be important for axon guidance and mammary gland development. Liprtrong>introng> family protetrong>introng> has been shown to localize phosphatase LAR to cell focal adhesions and may be trong>introng>volved trong>introng> the molecular organization of presynaptic active zones. [provided by RefSeq, Jul 2008]
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protetrong>introng> tyrostrong>introng>e phosphatase, trong>receptortrong> type, f polypeptide (PTPRF), trong>introng>teracttrong>introng>g protetrong>introng> (liprtrong>introng>), alpha 1
The protetrong>introng> encoded by this gene is a member of the LAR protetrong>introng>-tyrostrong>introng>e phosphatase-trong>introng>teracttrong>introng>g protetrong>introng> (liprtrong>introng>) family. Liprtrong>introng>s trong>introng>teract with members of LAR family of transmembrane protetrong>introng> tyrostrong>introng>e phosphatases, which are known to be important for axon guidance and mammary gland development. This protetrong>introng> btrong>introng>ds to the trong>introng>tracellular membrane-distal phosphatase domatrong>introng> of tyrostrong>introng>e phosphatase LAR, and appears to localize LAR to cell focal adhesions. This trong>introng>teraction may regulate the disassembly of focal adhesion and thus help orchestrate cell-matrix trong>introng>teractions. Alternatively spliced transcript variants encodtrong>introng>g disttrong>introng>ct isoforms have been described. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily K, member 4
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily K, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily K, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily K, member 3
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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toll-trong>introng>terleuktrong>introng> 1 trong>receptortrong> (TIR) domatrong>introng> contatrong>introng>trong>introng>g adaptor protetrong>introng>
The trong>introng>nate immune system recognizes microbial pathogens through Toll-like trong>receptortrong>s (TLRs), which identify pathogen-associated molecular patterns. Different TLRs recognize different pathogen-associated molecular patterns and all TLRs have a Toll-trong>introng>terleuktrong>introng> 1 trong>receptortrong> (TIR) domatrong>introng>, which is responsible for signal transduction. The protetrong>introng> encoded by this gene is a TIR adaptor protetrong>introng> trong>introng>volved trong>introng> the TLR4 signaltrong>introng>g pathway of the immune system. It activates NF-kappa-B, MAPK1, MAPK3 and JNK, which then results trong>introng> cytoktrong>introng>e secretion and the trong>introng>flammatory response. Alternative splictrong>introng>g of this gene results trong>introng> several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
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G protetrong>introng>-coupled trong>receptortrong> 166 pseudogene
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olfactory trong>receptortrong>, family 7, subfamily E, member 66 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily BS, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily C, member 5 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jan 2017]
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olfactory trong>receptortrong>, family 4, subfamily C, member 6
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily C, member 3
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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taste trong>receptortrong>, type 2, member 68 pseudogene
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olfactory trong>receptortrong>, family 6, subfamily E, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 52, subfamily V, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 8, subfamily T, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily K, member 15
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily K, member 14
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily K, member 17
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 88 pseudogene
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transient trong>receptortrong> potential cation channel, subfamily C, member 6 pseudogene
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transient trong>receptortrong> potential cation channel, subfamily C, member 6 pseudogene
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olfactory trong>receptortrong>, family 6, subfamily M, member 3 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 1, subfamily A, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 1, subfamily A, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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GDNF family trong>receptortrong> alpha 4
The protetrong>introng> encoded by this gene is a member of the GDNF trong>receptortrong> family. It is a glycosylphosphatidyltrong>introng>ositol(GPI)-ltrong>introng>ked cell surface trong>receptortrong> for persephtrong>introng>, and mediates activation of the RET tyrostrong>introng>e ktrong>introng>ase trong>receptortrong>. This gene is a candidate gene for RET-associated diseases. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
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GDNF family trong>receptortrong> alpha 1
This gene encodes a member of the glial cell ltrong>introng>e-derived neurotrophic factor trong>receptortrong> (GDNFR) family of protetrong>introng>s. The encoded preproprotetrong>introng> is proteolytically processed to generate the mature trong>receptortrong>. Glial cell ltrong>introng>e-derived neurotrophic factor (GDNF) and neurturtrong>introng> (NTN) are two structurally related, potent neurotrophic factors that play key roles trong>introng> the control of neuron survival and differentiation. This trong>receptortrong> is a glycosylphosphatidyltrong>introng>ositol (GPI)-ltrong>introng>ked cell surface trong>receptortrong> for both GDNF and NTN, and mediates activation of the RET tyrostrong>introng>e ktrong>introng>ase trong>receptortrong>. This gene is a candidate gene for Hirschsprung disease. Alternative splictrong>introng>g results trong>introng> multiple transcript variants, at least one of which encodes a preproprotetrong>introng> that is proteolytically processed. [provided by RefSeq, Jan 2016]
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GDNF family trong>receptortrong> alpha 3
The protetrong>introng> encoded by this gene is a glycosylphosphatidyltrong>introng>ositol(GPI)-ltrong>introng>ked cell surface trong>receptortrong> and a member of the GDNF trong>receptortrong> family. It forms a signaltrong>introng>g trong>receptortrong> complex with RET tyrostrong>introng>e ktrong>introng>ase trong>receptortrong> and btrong>introng>ds the ligand, artemtrong>introng>. [provided by RefSeq, Jul 2008]
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GDNF family trong>receptortrong> alpha 2
Glial cell ltrong>introng>e-derived neurotrophic factor (GDNF) and neurturtrong>introng> (NTN) are two structurally related, potent neurotrophic factors that play key roles trong>introng> the control of neuron survival and differentiation. The protetrong>introng> encoded by this gene is a member of the GDNF trong>receptortrong> family. It is a glycosylphosphatidyltrong>introng>ositol(GPI)-ltrong>introng>ked cell surface trong>receptortrong> for both GDNF and NTN, and mediates activation of the RET tyrostrong>introng>e ktrong>introng>ase trong>receptortrong>. This encoded protetrong>introng> acts preferentially as a trong>receptortrong> for NTN compared to its other family member, GDNF family trong>receptortrong> alpha 1. This gene is a candidate gene for RET-associated diseases. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
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olfactory trong>receptortrong>, family 52, subfamily N, member 3 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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poliovirus trong>receptortrong>-related 2 (herpesvirus entry mediator B)
This gene encodes a strong>introng>gle-pass type I membrane glycoprotetrong>introng> with two Ig-like C2-type domatrong>introng>s and an Ig-like V-type domatrong>introng>. This protetrong>introng> is one of the plasma membrane components of adherens junctions. It also serves as an entry for certatrong>introng> mutant stratrong>introng>s of herpes simplex virus and pseudorabies virus, and it is trong>introng>volved trong>introng> cell to cell spreadtrong>introng>g of these viruses. Variations trong>introng> this gene have been associated with differences trong>introng> the severity of multiple sclerosis. Alternate transcriptional splice variants, encodtrong>introng>g different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
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poliovirus trong>receptortrong>-related 4
This gene encodes a member of the necttrong>introng> family. The encoded protetrong>introng> contatrong>introng>s two immunoglobultrong>introng>-like (Ig-like) C2-type domatrong>introng>s and one Ig-like V-type domatrong>introng>. It is trong>introng>volved trong>introng> cell adhesion through trans-homophilic and -heterophilic trong>introng>teractions. It is a strong>introng>gle-pass type I membrane protetrong>introng>. The soluble form is produced by proteolytic cleavage at the cell surface by the metalloprotetrong>introng>ase ADAM17/TACE. The secreted form is found trong>introng> both breast tumor cell ltrong>introng>es and breast tumor patients. Mutations trong>introng> this gene are the cause of ectodermal dysplasia-syndactyly syndrome type 1, an autosomal recessive disorder. Alternatively spliced transcript variants have been found but the full-length nature of the variant has not been determtrong>introng>ed.[provided by RefSeq, Jan 2011]
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olfactory trong>receptortrong>, family 10, subfamily J, member 7 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 46 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily A, member 42
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 9, subfamily S, member 24 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 102 pseudogene
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olfactory trong>receptortrong>, family 52, subfamily Y, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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nuclear trong>receptortrong> subfamily 1, group H, member 5, pseudogene
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olfactory trong>receptortrong>, family 13, subfamily F, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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chemoktrong>introng>e (C-C motif) trong>receptortrong>-like 2
This gene encodes a chemoktrong>introng>e trong>receptortrong> like protetrong>introng>, which is predicted to be a seven transmembrane protetrong>introng> and most closely related to CCR1. Chemoktrong>introng>es and their trong>receptortrong>s mediated signal transduction are critical for the recruitment of effector immune cells to the site of trong>introng>flammation. This gene is expressed at high levels trong>introng> primary neutrophils and primary monocytes, and is further upregulated on neutrophil activation and durtrong>introng>g monocyte to macrophage differentiation. The function of this gene is unknown. This gene is mapped to the region where the chemoktrong>introng>e trong>receptortrong> gene cluster is located. [provided by RefSeq, Jul 2008]
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Fc trong>receptortrong>-like protetrong>introng> 2
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olfactory trong>receptortrong>, family 11, subfamily J, member 7 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily B, member 2 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily B, member 6 pseudogene
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tumor necrosis factor trong>receptortrong> superfamily, member 6b, decoy
This gene belongs to the tumor necrosis factor trong>receptortrong> superfamily. The encoded protetrong>introng> is postulated to play a regulatory role trong>introng> suppresstrong>introng>g FasL- and LIGHT-mediated cell death. It acts as a decoy trong>receptortrong> that competes with death trong>receptortrong>s for ligand btrong>introng>dtrong>introng>g. Over-expression of this gene has been noted trong>introng> gastrotrong>introng>testtrong>introng>al tract tumors. Read-through transcription trong>introng>to this gene from the neighbortrong>introng>g upstream gene, which encodes regulator of telomere elongation helicase 1 (RTEL1), generates a non-codtrong>introng>g transcript. [provided by RefSeq, Feb 2011]
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hypocrettrong>introng> (orextrong>introng>) trong>receptortrong> 1
The protetrong>introng> encoded by this gene is a G-protetrong>introng> coupled trong>receptortrong> trong>introng>volved trong>introng> the regulation of feedtrong>introng>g behavior. The encoded protetrong>introng> selectively btrong>introng>ds the hypothalamic neuropeptide orextrong>introng> A. A related gene (HCRTR2) encodes a G-protetrong>introng> coupled trong>receptortrong> that btrong>introng>ds orextrong>introng> A and orextrong>introng> B. [provided by RefSeq, Jan 2009]
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olfactory trong>receptortrong>, family 6, subfamily C, member 1 pseudogene
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olfactory trong>receptortrong>, family 10, subfamily V, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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peroxisome proliferator-activated trong>receptortrong> gamma, coactivator 1 alpha
The protetrong>introng> encoded by this gene is a transcriptional coactivator that regulates the genes trong>introng>volved trong>introng> energy metabolism. This protetrong>introng> trong>introng>teracts with PPARgamma, which permits the trong>introng>teraction of this protetrong>introng> with multiple transcription factors. This protetrong>introng> can trong>introng>teract with, and regulate the activities of, cAMP response element btrong>introng>dtrong>introng>g protetrong>introng> (CREB) and nuclear respiratory factors (NRFs). It provides a direct ltrong>introng>k between external physiological stimuli and the regulation of mitochondrial biogenesis, and is a major factor that regulates muscle fiber type determtrong>introng>ation. This protetrong>introng> may be also trong>introng>volved trong>introng> controlltrong>introng>g blood pressure, regulattrong>introng>g cellular cholesterol homoeostasis, and the development of obesity. [provided by RefSeq, Jul 2008]
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bone morphogenetic protetrong>introng> trong>receptortrong>, type IA pseudogene 1
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bone morphogenetic protetrong>introng> trong>receptortrong>, type IA pseudogene 2
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thyroid hormone trong>receptortrong> trong>introng>teractor 11 pseudogene
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hepatitis A virus cellular trong>receptortrong> 2
The protetrong>introng> encoded by this gene belongs to the immunoglobultrong>introng> superfamily, and TIM family of protetrong>introng>s. CD4-positive T helper lymphocytes can be divided trong>introng>to types 1 (Th1) and 2 (Th2) on the basis of their cytoktrong>introng>e secretion patterns. Th1 cells are trong>introng>volved trong>introng> cell-mediated immunity to trong>introng>tracellular pathogens and delayed-type hypersensitivity reactions, whereas, Th2 cells are trong>introng>volved trong>introng> the control of extracellular helmtrong>introng>thic trong>introng>fections and the promotion of atopic and allergic diseases. This protetrong>introng> is a Th1-specific cell surface protetrong>introng> that regulates macrophage activation, and trong>introng>hibits Th1-mediated auto- and alloimmune responses, and promotes immunological tolerance. [provided by RefSeq, Sep 2011]
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olfactory trong>receptortrong>, family 51, subfamily A, member 7
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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5-hydroxytryptamtrong>introng>e (serotontrong>introng>) trong>receptortrong> 5A, G protetrong>introng>-coupled
The neurotransmitter serotontrong>introng> (5-hydroxytryptamtrong>introng>e, 5-HT) has been implicated trong>introng> a wide range of psychiatric conditions and also has vasoconstrictive and vasodilatory effects. The gene described trong>introng> this record is a member of 5-hydroxytryptamtrong>introng>e (serotontrong>introng>) trong>receptortrong> family and encodes a multi-pass membrane protetrong>introng> that functions as a trong>receptortrong> for 5-hydroxytryptamtrong>introng>e and couples to G-protetrong>introng>s. This protetrong>introng> has been shown to function trong>introng> part through the regulation of trong>introng>tracellular Ca2+ mobilization. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 16 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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trong>introng>terleuktrong>introng> 22 trong>receptortrong>, alpha 2
This gene encodes a member of the class II cytoktrong>introng>e trong>receptortrong> family. The encoded soluble protetrong>introng> specifically btrong>introng>ds to and trong>introng>hibits trong>introng>terleuktrong>introng> 22 activity by blocktrong>introng>g the trong>introng>teraction of trong>introng>terleuktrong>introng> 22 with its cell surface trong>receptortrong>. The encoded protetrong>introng> may be important trong>introng> the regulation of trong>introng>flammatory response, and has been implicated trong>introng> the regulation of tumorigenesis trong>introng> the colon. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g disttrong>introng>ct isoforms. [provided by RefSeq, Jul 2013]
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trong>introng>terleuktrong>introng> 22 trong>receptortrong>, alpha 1
The protetrong>introng> encoded by this gene belongs to the class II cytoktrong>introng>e trong>receptortrong> family, and has been shown to be a trong>receptortrong> for trong>introng>terleuktrong>introng> 22 (IL22). IL22 trong>receptortrong> is a protetrong>introng> complex that consists of this protetrong>introng> and trong>introng>terleuktrong>introng> 10 trong>receptortrong>, trong>betatrong> (IL10BR/CRFB4), a subunit also shared by the trong>receptortrong> complex for trong>introng>terleuktrong>introng> 10 (IL10). This gene and trong>introng>terleuktrong>introng> 28 trong>receptortrong>, alpha (IL28RA) form a cytoktrong>introng>e trong>receptortrong> gene cluster trong>introng> the chromosomal region 1p36. [provided by RefSeq, Jul 2008]
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splA/ryanodtrong>introng>e trong>receptortrong> domatrong>introng> and SOCS box contatrong>introng>trong>introng>g 4
Enables ubiquittrong>introng>-like ligase-substrate adaptor activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g positive regulation of protetrong>introng> polyubiquittrong>introng>ation; protetrong>introng> ubiquittrong>introng>ation; and ubiquittrong>introng>-dependent protetrong>introng> catabolic process. Located trong>introng> cytosol. [provided by Alliance of Genome Resources, Mar 2025]
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nuclear trong>receptortrong> btrong>introng>dtrong>introng>g factor 2 pseudogene
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CD200 trong>receptortrong> 1-like
Predicted to enable signaltrong>introng>g trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> regulation of neurotrong>introng>flammatory response. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong>, family 4, subfamily N, member 3 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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fibroblast growth factor trong>receptortrong> 3 pseudogene 6
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fibroblast growth factor trong>receptortrong> 3 pseudogene 4
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fibroblast growth factor trong>receptortrong> 3 pseudogene 3
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fibroblast growth factor trong>receptortrong> 3 pseudogene 2
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fibroblast growth factor trong>receptortrong> 3 pseudogene 1
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melanocorttrong>introng> 4 trong>receptortrong>
The protetrong>introng> encoded by this gene is a membrane-bound trong>receptortrong> and member of the melanocorttrong>introng> trong>receptortrong> family. The encoded protetrong>introng> trong>introng>teracts with adrenocorticotropic and MSH hormones and is mediated by G protetrong>introng>s. This is an trong>introng>tronless gene. Defects trong>introng> this gene are a cause of autosomal domtrong>introng>ant obesity. [provided by RefSeq, Jan 2010]
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peroxisome proliferator-activated trong>receptortrong> gamma
This gene encodes a member of the peroxisome proliferator-activated trong>receptortrong> (PPAR) subfamily of nuclear trong>receptortrong>s. PPARs form heterodimers with rettrong>introng>oid X trong>receptortrong>s (RXRs) and these heterodimers regulate transcription of various genes. Three subtypes of PPARs are known: PPAR-alpha, PPAR-delta, and PPAR-gamma. The protetrong>introng> encoded by this gene is PPAR-gamma and is a regulator of adipocyte differentiation. Additionally, PPAR-gamma has been implicated trong>introng> the pathology of numerous diseases trong>introng>cludtrong>introng>g obesity, diabetes, atherosclerosis and cancer. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jul 2008]
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peroxisome proliferator-activated trong>receptortrong> delta
This gene encodes a member of the peroxisome proliferator-activated trong>receptortrong> (PPAR) family. The encoded protetrong>introng> is thought to function as an trong>introng>tegrator of transcriptional repression and nuclear trong>receptortrong> signaltrong>introng>g. It may trong>introng>hibit the ligand-trong>introng>duced transcriptional activity of peroxisome proliferator activated trong>receptortrong>s alpha and gamma, though evidence for this effect is trong>introng>consistent. Expression of this gene trong>introng> colorectal cancer cells may be variable but is typically relatively low. Knockout studies trong>introng> mice suggested a role for this protetrong>introng> trong>introng> myeltrong>introng>ation of the corpus callosum, lipid metabolism, differentiation, and epidermal cell proliferation. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g disttrong>introng>ct protetrong>introng> isoforms. [provided by RefSeq, Aug 2017]
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olfactory trong>receptortrong>, family 52, subfamily A, member 5
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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peroxisome proliferator-activated trong>receptortrong> alpha
Peroxisome proliferators trong>introng>clude hypolipidemic drugs, herbicides, leukotriene antagonists, and plasticizers; this term arises because they trong>introng>duce an trong>introng>crease trong>introng> the size and number of peroxisomes. Peroxisomes are subcellular organelles found trong>introng> plants and animals that contatrong>introng> enzymes for respiration and for cholesterol and lipid metabolism. The action of peroxisome proliferators is thought to be mediated via specific trong>receptortrong>s, called PPARs, which belong to the steroid hormone trong>receptortrong> superfamily. PPARs affect the expression of target genes trong>introng>volved trong>introng> cell proliferation, cell differentiation and trong>introng> immune and trong>introng>flammation responses. Three closely related subtypes (alpha, trong>betatrong>/delta, and gamma) have been identified. This gene encodes the subtype PPAR-alpha, which is a nuclear transcription factor. Multiple alternatively spliced transcript variants have been described for this gene, although the full-length nature of only two has been determtrong>introng>ed. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily V, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily F, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily F, member 15
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily F, member 16
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily F, member 17
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 8, subfamily A, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 52, subfamily N, member 2 pseudogene
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olfactory trong>receptortrong>, family 52, subfamily B, member 4 pseudogene
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olfactory trong>receptortrong>, family 52, subfamily J, member 3 pseudogene
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olfactory trong>receptortrong>, family 52, subfamily K, member 1 pseudogene
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olfactory trong>receptortrong>, family 51, subfamily L, member 1 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily Z, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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Fc fragment of IgG, high afftrong>introng>ity Ic, trong>receptortrong> (CD64), pseudogene
The gene represents one of three related immunoglobultrong>introng> gamma Fc trong>receptortrong> genes located on chromosome 1. This family member lacks the transmembrane and coiled-coiled domatrong>introng>s found trong>introng> other family members and is thought to be a pseudogene of Fc-gamma-trong>receptortrong> 1A. [provided by RefSeq, Apr 2009]
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Fc fragment of IgG, high afftrong>introng>ity Ib, trong>receptortrong> (CD64)
Three disttrong>introng>ct, but closely related classes of trong>receptortrong>s that btrong>introng>d the Fc portion of IgG have been identified (Fcgamma RI, II and III). The FcgammaRI family consists of three closely related genes termed A, B, and C. This gene likely encodes a non-functional protetrong>introng> that is not detectable at the cell surface and btrong>introng>ds ligand with low afftrong>introng>ity. [provided by RefSeq, Nov 2019]
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Fc fragment of IgG, high afftrong>introng>ity Ia, trong>receptortrong> (CD64)
This gene encodes a protetrong>introng> that plays an important role trong>introng> the immune response. This protetrong>introng> is a high-afftrong>introng>ity Fc-gamma trong>receptortrong>. The gene is one of three related gene family members located on chromosome 1. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 51, subfamily G, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 51, subfamily G, member 1 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jun 2015]
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vomeronasal 1 trong>receptortrong> 30 pseudogene
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olfactory trong>receptortrong>, family 3, subfamily B, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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prostaglandtrong>introng> E trong>receptortrong> 4 (subtype EP4) pseudogene 3
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prostaglandtrong>introng> E trong>receptortrong> 4 (subtype EP4) pseudogene 1
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olfactory trong>receptortrong>, family 2, subfamily W, member 4 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily A, member 10
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily C, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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MAS1 proto-oncogene like, G protetrong>introng>-coupled trong>receptortrong> pseudogene
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MAS1 proto-oncogene like, G protetrong>introng>-coupled trong>receptortrong> pseudogene
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adhesion G protetrong>introng>-coupled trong>receptortrong> E5
This gene encodes a member of the EGF-TM7 subfamily of adhesion G protetrong>introng>-coupled trong>receptortrong>s, which mediate cell-cell trong>introng>teractions. These protetrong>introng>s are cleaved by self-catalytic proteolysis trong>introng>to a large extracellular subunit and seven-span transmembrane subunit, which associate at the cell surface as a trong>receptortrong> complex. The encoded protetrong>introng> may play a role trong>introng> cell adhesion as well as leukocyte recruitment, activation and migration, and contatrong>introng>s multiple extracellular EGF-like repeats which mediate btrong>introng>dtrong>introng>g to chondroittrong>introng> sulfate and the cell surface complement regulatory protetrong>introng> CD55. Expression of this gene may play a role trong>introng> the progression of several types of cancer. Alternatively spliced transcript variants encodtrong>introng>g multiple isoforms with 3 to 5 EGF-like repeats have been observed for this gene. This gene is found trong>introng> a cluster with other EGF-TM7 genes on the short arm of chromosome 19. [provided by RefSeq, Jun 2011]
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adhesion G protetrong>introng>-coupled trong>receptortrong> E1
This gene encodes a protetrong>introng> that has a domatrong>introng> resembltrong>introng>g seven transmembrane G protetrong>introng>-coupled hormone trong>receptortrong>s (7TM trong>receptortrong>s) at its C-termtrong>introng>us. The N-termtrong>introng>us of the encoded protetrong>introng> has six EGF-like modules, separated from the transmembrane segments by a sertrong>introng>e/threontrong>introng>e-rich domatrong>introng>, a feature remtrong>introng>iscent of muctrong>introng>-like, strong>introng>gle-span, trong>introng>tegral membrane glycoprotetrong>introng>s with adhesive properties. Multiple alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
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adhesion G protetrong>introng>-coupled trong>receptortrong> E3
This gene encodes a member of the class B seven-span transmembrane (TM7) trong>receptortrong> family expressed predomtrong>introng>antly by cells of the immune system. Family members are characterized by an extended extracellular region with a variable number of N-termtrong>introng>al epidermal growth factor (EGF)-like domatrong>introng>s coupled to a TM7 domatrong>introng> via a muctrong>introng>-like spacer domatrong>introng>. This gene is closely ltrong>introng>ked to the gene encodtrong>introng>g egf-like molecule contatrong>introng>trong>introng>g muctrong>introng>-like hormone trong>receptortrong> 2 on chromosome 19. This protetrong>introng> may play a role trong>introng> myeloid-myeloid trong>introng>teractions durtrong>introng>g immune and trong>introng>flammatory responses. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g different isoforms. [provided by RefSeq, Jan 2014]
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adhesion G protetrong>introng>-coupled trong>receptortrong> E2
This gene encodes a member of the class B seven-span transmembrane (TM7) subfamily of G-protetrong>introng> coupled trong>receptortrong>s. These protetrong>introng>s are characterized by an extended extracellular region with a variable number of N-termtrong>introng>al epidermal growth factor-like domatrong>introng>s coupled to a TM7 domatrong>introng> via a muctrong>introng>-like spacer domatrong>introng>. The encoded protetrong>introng> is expressed matrong>introng>ly trong>introng> myeloid cells where it promotes cell-cell adhesion through trong>introng>teraction with chondroittrong>introng> sulfate trong>chatrong>introng>trong>s. This gene is situated trong>introng> a cluster of related genes on chromosome 19. Alternatively spliced transcript variants encodtrong>introng>g multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]
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olfactory trong>receptortrong>, family 5, subfamily B, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily B, member 12
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 8, subfamily B, member 5 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 11, subfamily Q, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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relaxtrong>introng>/trong>introng>sultrong>introng>-like family peptide trong>receptortrong> 1
This gene encodes a member of the leuctrong>introng>e-rich repeat-contatrong>introng>trong>introng>g subgroup of the G protetrong>introng>-coupled 7-transmembrane trong>receptortrong> superfamily. The encoded protetrong>introng> plays a critical role trong>introng> sperm motility, pregnancy and parturition as a trong>receptortrong> for the protetrong>introng> hormone relaxtrong>introng>. Decreased expression of this gene may play a role trong>introng> endometriosis. Alternatively spliced transcript variants encodtrong>introng>g multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
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relaxtrong>introng>/trong>introng>sultrong>introng>-like family peptide trong>receptortrong> 3
Predicted to enable G protetrong>introng>-coupled peptide trong>receptortrong> activity. trong>Introng>volved trong>introng> positive regulation of cytoktrong>introng>esis. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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relaxtrong>introng>/trong>introng>sultrong>introng>-like family peptide trong>receptortrong> 2
This gene encodes a member of the GPCR (G protetrong>introng>-coupled, 7-transmembrane trong>receptortrong>) family. Mutations trong>introng> this gene are associated with cryptorchidism. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
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relaxtrong>introng>/trong>introng>sultrong>introng>-like family peptide trong>receptortrong> 4
GPR100 is a member of the rhodopstrong>introng> family of G protetrong>introng>-coupled trong>receptortrong>s (GPRs) (Fredriksson et al., 2003 [PubMed 14623098]).[supplied by OMIM, Mar 2008]
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olfactory trong>receptortrong>, family 5, subfamily J, member 2 pseudogene
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roundabout, axon guidance trong>receptortrong>, homolog 1 (Drosophila)
Bilateral symmetric nervous systems have special midltrong>introng>e structures that establish a partition between the two mirror image halves. Some axons project toward and across the midltrong>introng>e trong>introng> response to long-range chemoattractants emanattrong>introng>g from the midltrong>introng>e. The product of this gene is a member of the immunoglobultrong>introng> gene superfamily and encodes an trong>introng>tegral membrane protetrong>introng> that functions trong>introng> axon guidance and neuronal precursor cell migration. This trong>receptortrong> is activated by SLIT-family protetrong>introng>s, resulttrong>introng>g trong>introng> a repulsive effect on glioma cell guidance trong>introng> the developtrong>introng>g bratrong>introng>. A related gene is located at an adjacent region on chromosome 3. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
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roundabout, axon guidance trong>receptortrong>, homolog 3 (Drosophila)
This gene is a member of the Roundabout (ROBO) gene family that controls neurite outgrowth, growth cone guidance, and axon fasciculation. ROBO protetrong>introng>s are a subfamily of the immunoglobultrong>introng> transmembrane trong>receptortrong> superfamily. SLIT protetrong>introng>s 1-3, a family of secreted chemorepellants, are ligands for ROBO protetrong>introng>s and SLIT/ROBO trong>introng>teractions regulate myogenesis, leukocyte migration, kidney morphogenesis, angiogenesis, and vasculogenesis trong>introng> addition to neurogenesis. This gene, ROBO3, has a putative extracellular domatrong>introng> with five immunoglobultrong>introng> (Ig)-like loops and three fibronecttrong>introng> (Fn) type III motifs, a transmembrane segment, and a cytoplasmic tail with three conserved signaltrong>introng>g motifs: CC0, CC2, and CC3 (CC for conserved cytoplasmic). Unlike other ROBO family members, ROBO3 lacks motif CC1. The ROBO3 gene regulates axonal navigation at the ventral midltrong>introng>e of the neural tube. trong>Introng> mouse, loss of Robo3 results trong>introng> a complete failure of commissural axons to cross the midltrong>introng>e throughout the sptrong>introng>al cord and the htrong>introng>dbratrong>introng>. Mutations ROBO3 result trong>introng> horizontal gaze palsy with progressive scoliosis (HGPPS); an autosomal recessive disorder characterized by congenital absence of horizontal gaze, progressive scoliosis, and failure of the corticosptrong>introng>al and somatosensory axon tracts to cross the midltrong>introng>e trong>introng> the medulla. [provided by RefSeq, May 2019]
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roundabout, axon guidance trong>receptortrong>, homolog 4 (Drosophila)
Predicted to enable cell-cell adhesion mediator activity. trong>Introng>volved trong>introng> establishment of endothelial barrier. Located trong>introng> extracellular exosome. Implicated trong>introng> aortic valve disease 3. Biomarker of pre-eclampsia and thyroid gland carctrong>introng>oma. [provided by Alliance of Genome Resources, Mar 2025]
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benzodiazeptrong>introng>e trong>receptortrong> (peripheral) associated protetrong>introng> 1
Enables benzodiazeptrong>introng>e trong>receptortrong> btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> regulation of neurotransmitter secretion. Located trong>introng> mitochondrion. Implicated trong>introng> dystonia 22, adult-onset and dystonia 22, juvenile-onset. [provided by Alliance of Genome Resources, Mar 2025]
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thyroid hormone trong>receptortrong> trong>introng>teractor 4
This gene encodes a subunit of the tetrameric nuclear activattrong>introng>g signal cotrong>introng>tegrator 1 (ASC-1) complex, which associates with transcriptional coactivators, nuclear trong>receptortrong>s and basal transcription factors to facilitate nuclear trong>receptortrong>s-mediated transcription. This protetrong>introng> is localized trong>introng> the nucleus and contatrong>introng>s an E1A-type ztrong>introng>c ftrong>introng>ger domatrong>introng>, which mediates trong>introng>teraction with transcriptional coactivators and ligand-bound nuclear trong>receptortrong>s, such as thyroid hormone trong>receptortrong> and rettrong>introng>oid X trong>receptortrong> alpha, but not glucocorticoid trong>receptortrong>. Mutations trong>introng> this gene are associated with sptrong>introng>al muscular atrophy with congenital bone fractures-1 (SMABF1). [provided by RefSeq, Apr 2016]
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olfactory trong>receptortrong>, family 5, subfamily M, member 7 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 52, subfamily H, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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G protetrong>introng>-coupled trong>receptortrong> 52
Members of the G protetrong>introng>-coupled trong>receptortrong> (GPR) family play important roles trong>introng> signal transduction from the external environment to the trong>introng>side of the cell.[supplied by OMIM, Jul 2002]
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G protetrong>introng>-coupled trong>receptortrong> 55
This gene belongs to the G-protetrong>introng>-coupled trong>receptortrong> superfamily. The encoded trong>introng>tegral membrane protetrong>introng> is a likely cannabtrong>introng>oid trong>receptortrong>. It may be trong>introng>volved trong>introng> several physiological and pathological processes by activattrong>introng>g a variety of signal transduction pathways. [provided by RefSeq, Aug 2013]
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taste trong>receptortrong>, type 2, member 18, pseudogene
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G protetrong>introng>-coupled trong>receptortrong> 162
This gene was identified upon genomic analysis of a gene-dense region at human chromosome 12p13. It appears to be matrong>introng>ly expressed trong>introng> the bratrong>introng>; however, its function is not known. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been identified. [provided by RefSeq, Jul 2008]
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thyroid hormone trong>receptortrong> associated protetrong>introng> 3 pseudogene
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olfactory trong>receptortrong>, family 1, subfamily I, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 149 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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diazepam btrong>introng>dtrong>introng>g trong>introng>hibitor (GABA trong>receptortrong> modulator, acyl-CoA btrong>introng>dtrong>introng>g protetrong>introng>) pseudogene 2
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diazepam btrong>introng>dtrong>introng>g trong>introng>hibitor (GABA trong>receptortrong> modulator, acyl-CoA btrong>introng>dtrong>introng>g protetrong>introng>) pseudogene 3
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diazepam btrong>introng>dtrong>introng>g trong>introng>hibitor (GABA trong>receptortrong> modulator, acyl-CoA btrong>introng>dtrong>introng>g protetrong>introng>) pseudogene 1
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thyroid stimulattrong>introng>g hormone trong>receptortrong>-like 1
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natriuretic peptide trong>receptortrong> 1
Guanylyl cyclases, catalyztrong>introng>g the production of cGMP from GTP, are classified as soluble and membrane forms (Garbers and Lowe, 1994 [PubMed 7982997]). The membrane guanylyl cyclases, often termed guanylyl cyclases A through F, form a family of cell-surface trong>receptortrong>s with a similar topographic structure: an extracellular ligand-btrong>introng>dtrong>introng>g domatrong>introng>, a strong>introng>gle membrane-spanntrong>introng>g domatrong>introng>, and an trong>introng>tracellular region that contatrong>introng>s a protetrong>introng> ktrong>introng>ase-like domatrong>introng> and a cyclase catalytic domatrong>introng>. GC-A and GC-B function as trong>receptortrong>s for natriuretic peptides; they are also referred to as atrial natriuretic peptide trong>receptortrong> A (NPR1) and type B (NPR2; MIM 108961). Also see NPR3 (MIM 108962), which encodes a protetrong>introng> with only the ligand-btrong>introng>dtrong>introng>g transmembrane and 37-amtrong>introng>o acid cytoplasmic domatrong>introng>s. NPR1 is a membrane-bound guanylate cyclase that serves as the trong>receptortrong> for both atrial and bratrong>introng> natriuretic peptides (ANP (MIM 108780) and BNP (MIM 600295), respectively).[supplied by OMIM, May 2009]
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epidermal growth factor trong>receptortrong>
The protetrong>introng> encoded by this gene is a transmembrane glycoprotetrong>introng> that is a member of the protetrong>introng> ktrong>introng>ase superfamily. This protetrong>introng> is a trong>receptortrong> for members of the epidermal growth factor family. EGFR is a cell surface protetrong>introng> that btrong>introng>ds to epidermal growth factor, thus trong>introng>ductrong>introng>g trong>receptortrong> dimerization and tyrostrong>introng>e autophosphorylation leadtrong>introng>g to cell proliferation. Mutations trong>introng> this gene are associated with lung cancer. EGFR is a component of the cytoktrong>introng>e storm which contributes to a severe form of Coronavirus Disease 2019 (COVID-19) resulttrong>introng>g from trong>introng>fection with severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2). [provided by RefSeq, Jul 2020]
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olfactory trong>receptortrong>, family 2, subfamily H, member 5 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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choltrong>introng>ergic trong>receptortrong>, nicottrong>introng>ic, gamma (muscle)
The mammalian muscle-type acetylcholtrong>introng>e trong>receptortrong> is a transmembrane pentameric glycoprotetrong>introng> with two alpha subunits, one trong>betatrong>, one delta, and one epsilon (trong>introng> adult skeletal muscle) or gamma (trong>introng> fetal and denervated muscle) subunit. This gene, which encodes the gamma subunit, is expressed prior to the thirty-third week of gestation trong>introng> humans. The gamma subunit of the acetylcholtrong>introng>e trong>receptortrong> plays a role trong>introng> neuromuscular organogenesis and ligand btrong>introng>dtrong>introng>g and disruption of gamma subunit expression prevents the correct localization of the trong>receptortrong> trong>introng> cell membranes. Mutations trong>introng> this gene cause Escobar syndrome and a lethal form of multiple pterygium syndrome. Muscle-type acetylcholtrong>introng>e trong>receptortrong> is the major antigen trong>introng> the autoimmune disease myasthenia gravis.[provided by RefSeq, Sep 2009]
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choltrong>introng>ergic trong>receptortrong>, nicottrong>introng>ic, delta (muscle)
The acetylcholtrong>introng>e trong>receptortrong> of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of trong>betatrong>, gamma and delta subunits. After acetylcholtrong>introng>e btrong>introng>dtrong>introng>g, the trong>receptortrong> undergoes an extensive conformation change that affects all subunits and leads to opentrong>introng>g of an ion-conducttrong>introng>g channel across the plasma membrane. Defects trong>introng> this gene are a cause of multiple pterygium syndrome lethal type (MUPSL), congenital myasthenic syndrome slow-channel type (SCCMS), and congenital myasthenic syndrome fast-channel type (FCCMS). Several transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
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choltrong>introng>ergic trong>receptortrong>, nicottrong>introng>ic, epsilon (muscle)
Acetylcholtrong>introng>e trong>receptortrong>s at mature mammalian neuromuscular junctions are pentameric protetrong>introng> complexes composed of four subunits trong>introng> the ratio of two alpha subunits to one trong>betatrong>, one epsilon, and one delta subunit. The acetylcholtrong>introng>e trong>receptortrong> changes subunit composition shortly after birth when the epsilon subunit replaces the gamma subunit seen trong>introng> embryonic trong>receptortrong>s. Mutations trong>introng> the epsilon subunit are associated with congenital myasthenic syndrome. [provided by RefSeq, Sep 2009]
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proktrong>introng>etictrong>introng> trong>receptortrong> 1
This gene encodes a member of the G-protetrong>introng>-coupled trong>receptortrong> family. The encoded protetrong>introng> btrong>introng>ds to proktrong>introng>etictrong>introng>s (1 and 2), leadtrong>introng>g to the activation of MAPK and STAT signaltrong>introng>g pathways. Proktrong>introng>etictrong>introng>s are protetrong>introng> ligands trong>introng>volved trong>introng> angiogenesis and trong>introng>flammation. The encoded protetrong>introng> is expressed trong>introng> peripheral tissues such as those compristrong>introng>g the circulatory system, lungs, reproductive system, endocrtrong>introng>e system and the gastrotrong>introng>testtrong>introng>al system. The protetrong>introng> may be trong>introng>volved trong>introng> signaltrong>introng>g trong>introng> human fetal ovary durtrong>introng>g trong>introng>itiation of primordial follicle formation. Sequence variants trong>introng> this gene may be associated with recurrent miscarriage. [provided by RefSeq, Aug 2016]
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proktrong>introng>etictrong>introng> trong>receptortrong> 2
Proktrong>introng>etictrong>introng>s are secreted protetrong>introng>s that can promote angiogenesis and trong>introng>duce strong gastrotrong>introng>testtrong>introng>al smooth muscle contraction. The protetrong>introng> encoded by this gene is an trong>introng>tegral membrane protetrong>introng> and G protetrong>introng>-coupled trong>receptortrong> for proktrong>introng>etictrong>introng>s. The encoded protetrong>introng> is similar trong>introng> sequence to GPR73, another G protetrong>introng>-coupled trong>receptortrong> for proktrong>introng>etictrong>introng>s. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 14, subfamily L, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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estrogen-related trong>receptortrong> gamma
This gene encodes a member of the estrogen trong>receptortrong>-related trong>receptortrong> (ESRR) family, which belongs to the nuclear hormone trong>receptortrong> superfamily. All members of the ESRR family share an almost identical DNA btrong>introng>dtrong>introng>g domatrong>introng>, which is composed of two C4-type ztrong>introng>c ftrong>introng>ger motifs. The ESRR members are orphan nuclear trong>receptortrong>s; they btrong>introng>d to the estrogen response element and steroidogenic factor 1 response element, and activate genes controlled by both response elements trong>introng> the absence of any ligands. The ESRR family is closely related to the estrogen trong>receptortrong> (ER) family. They share target genes, co-regulators and promoters, and by targettrong>introng>g the same set of genes, the ESRRs seem to trong>introng>terfere with the ER-mediated estrogen response trong>introng> various ways. It has been reported that the family member encoded by this gene functions as a transcriptional activator of DNA cytostrong>introng>e-5-methyltransferases 1 (Dnmt1) expression by direct btrong>introng>dtrong>introng>g to its response elements trong>introng> the DNMT1 promoters, modulates cell proliferation and estrogen signaltrong>introng>g trong>introng> breast cancer, and negatively regulates bone morphogenetic protetrong>introng> 2-trong>introng>duced osteoblast differentiation and bone formation. Multiple alternatively spliced transcript variants have been identified, which matrong>introng>ly differ at the 5' end and some of which encode protetrong>introng> isoforms differtrong>introng>g trong>introng> the N-termtrong>introng>al region. [provided by RefSeq, Aug 2011]
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olfactory trong>receptortrong>, family 2, subfamily J, member 4 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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triggertrong>introng>g trong>receptortrong> expressed on myeloid cells 1
This gene encodes a trong>receptortrong> belongtrong>introng>g to the Ig superfamily that is expressed on myeloid cells. This protetrong>introng> amplifies neutrophil and monocyte-mediated trong>introng>flammatory responses triggered by bacterial and fungal trong>introng>fections by stimulattrong>introng>g release of pro-trong>introng>flammatory chemoktrong>introng>es and cytoktrong>introng>es, as well as trong>introng>creased surface expression of cell activation markers. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been noted for this gene.[provided by RefSeq, Jun 2011]
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triggertrong>introng>g trong>receptortrong> expressed on myeloid cells 2
This gene encodes a membrane protetrong>introng> that forms a trong>receptortrong> signaltrong>introng>g complex with the TYRO protetrong>introng> tyrostrong>introng>e ktrong>introng>ase btrong>introng>dtrong>introng>g protetrong>introng>. The encoded protetrong>introng> functions trong>introng> immune response and may be trong>introng>volved trong>introng> chronic trong>introng>flammation by triggertrong>introng>g the production of constitutive trong>introng>flammatory cytoktrong>introng>es. Defects trong>introng> this gene are a cause of polycystic lipomembranous osteodysplasia with sclerostrong>introng>g leukoencephalopathy (PLOSL). Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g different isoforms. [provided by RefSeq, Nov 2012]
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nuclear trong>receptortrong> subfamily 1, group H, member 4
This gene encodes a ligand-activated transcription factor that shares structural features trong>introng> common with nuclear hormone trong>receptortrong> family members. This protetrong>introng> functions as a trong>receptortrong> for bile acids, and when bound to bile acids, btrong>introng>ds to DNA and regulates the expression of genes trong>introng>volved trong>introng> bile acid synthesis and transport. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been described. [provided by RefSeq, Feb 2016]
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nuclear trong>receptortrong> subfamily 1, group H, member 2
The liver X trong>receptortrong>s, LXRA (NR1H3; MIM 602423) and LXRB, form a subfamily of the nuclear trong>receptortrong> superfamily and are key regulators of macrophage function, controlltrong>introng>g transcriptional programs trong>introng>volved trong>introng> lipid homeostasis and trong>introng>flammation. The trong>introng>ducible LXRA is highly expressed trong>introng> liver, adrenal gland, trong>introng>testtrong>introng>e, adipose tissue, macrophages, lung, and kidney, whereas LXRB is ubiquitously expressed. Ligand-activated LXRs form obligate heterodimers with rettrong>introng>oid X trong>receptortrong>s (RXRs; see MIM 180245) and regulate expression of target genes contatrong>introng>trong>introng>g LXR response elements (summary by Korf et al., 2009 [PubMed 19436111]).[supplied by OMIM, Jan 2010]
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olfactory trong>receptortrong>, family 2, subfamily A, member 13 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 6, subfamily D, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 49 pseudogene
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5-hydroxytryptamtrong>introng>e (serotontrong>introng>) trong>receptortrong> 6, G protetrong>introng>-coupled
This gene encodes a protetrong>introng> that belongs to the seven-transmembrane G protetrong>introng>-coupled trong>receptortrong> family of protetrong>introng>s. The encoded protetrong>introng> couples with the Gs alpha subunit and stimulates adenylate cyclase to activate the cyclic AMP-dependent signaltrong>introng>g pathway. This trong>receptortrong> is thought to regulate choltrong>introng>ergic neuronal transmission trong>introng> the bratrong>introng>. Several antidepressants and antipsychotic drugs have a high afftrong>introng>ity for this trong>receptortrong>. [provided by RefSeq, Aug 2013]
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5-hydroxytryptamtrong>introng>e (serotontrong>introng>) trong>receptortrong> 7, adenylate cyclase-coupled
The neurotransmitter, serotontrong>introng>, is thought to play a role trong>introng> various cognitive and behavioral functions. The serotontrong>introng> trong>receptortrong> encoded by this gene belongs to the superfamily of G protetrong>introng>-coupled trong>receptortrong>s and the gene is a candidate locus for trong>introng>volvement trong>introng> autistic disorder and other neuropsychiatric disorders. Three splice variants have been identified which encode protetrong>introng>s that differ trong>introng> the length of their carboxy termtrong>introng>al ends. [provided by RefSeq, Jul 2008]
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KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protetrong>introng> retention trong>receptortrong> 2
Retention of resident soluble protetrong>introng>s trong>introng> the lumen of the endoplasmic reticulum (ER) is achieved trong>introng> both yeast and animal cells by their conttrong>introng>ual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorttrong>introng>g of these protetrong>introng>s is dependent on a C-termtrong>introng>al tetrapeptide signal, usually lys-asp-glu-leu (KDEL) trong>introng> animal cells, and his-asp-glu-leu (HDEL) trong>introng> S. cerevisiae. This process is mediated by a trong>receptortrong> that recognizes, and btrong>introng>ds the tetrapeptide-contatrong>introng>trong>introng>g protetrong>introng>, and returns it to the ER. trong>Introng> yeast, the sorttrong>introng>g trong>receptortrong> encoded by a strong>introng>gle gene, ERD2, is a seven-transmembrane protetrong>introng>. Unlike yeast, several human homologs of the ERD2 gene, constituttrong>introng>g the KDEL trong>receptortrong> gene family, have been described. KDELR2 was the second member of the family to be identified, and it encodes a protetrong>introng> which is 83% identical to the KDELR1 gene product. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g disttrong>introng>ct isoforms. [provided by RefSeq, Jul 2008]
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KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protetrong>introng> retention trong>receptortrong> 3
This gene encodes a member of the KDEL endoplasmic reticulum protetrong>introng> retention trong>receptortrong> family. Retention of resident soluble protetrong>introng>s trong>introng> the lumen of the endoplasmic reticulum (ER) is achieved trong>introng> both yeast and animal cells by their conttrong>introng>ual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorttrong>introng>g of these protetrong>introng>s is dependent on a C-termtrong>introng>al tetrapeptide signal, usually lys-asp-glu-leu (KDEL) trong>introng> animal cells, and his-asp-glu-leu (HDEL) trong>introng> S. cerevisiae. This process is mediated by a trong>receptortrong> that recognizes, and btrong>introng>ds the tetrapeptide-contatrong>introng>trong>introng>g protetrong>introng>, and returns it to the ER. trong>Introng> yeast, the sorttrong>introng>g trong>receptortrong> encoded by a strong>introng>gle gene, ERD2, is a seven-transmembrane protetrong>introng>. Unlike yeast, several human homologs of the ERD2 gene, constituttrong>introng>g the KDEL trong>receptortrong> gene family, have been described. KDELR3 was the third member of the family to be identified. Alternate splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jul 2013]
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KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protetrong>introng> retention trong>receptortrong> 1
Retention of resident soluble protetrong>introng>s trong>introng> the lumen of the endoplasmic reticulum (ER) is achieved trong>introng> both yeast and animal cells by their conttrong>introng>ual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorttrong>introng>g of these protetrong>introng>s is dependent on a C-termtrong>introng>al tetrapeptide signal, usually lys-asp-glu-leu (KDEL) trong>introng> animal cells, and his-asp-glu-leu (HDEL) trong>introng> S. cerevisiae. This process is mediated by a trong>receptortrong> that recognizes, and btrong>introng>ds the tetrapeptide-contatrong>introng>trong>introng>g protetrong>introng>, and returns it to the ER. trong>Introng> yeast, the sorttrong>introng>g trong>receptortrong> encoded by a strong>introng>gle gene, ERD2, which is a seven-transmembrane protetrong>introng>. Unlike yeast, several human homologs of the ERD2 gene, constituttrong>introng>g the KDEL trong>receptortrong> gene family, have been described. The protetrong>introng> encoded by this gene was the first member of the family to be identified, and it encodes a protetrong>introng> structurally and functionally similar to the yeast ERD2 gene product. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily AF, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily H, member 5 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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angiotenstrong>introng> II trong>receptortrong>-associated protetrong>introng>
This gene encodes a transmembrane protetrong>introng> localized to the plasma membrane and pertrong>introng>uclear vesicular structures. The gene product trong>introng>teracts with the angiotenstrong>introng> II type I trong>receptortrong> and negatively regulates angiotenstrong>introng> II signaltrong>introng>g. Alternative splictrong>introng>g of this gene generates multiple transcript variants encodtrong>introng>g different isoforms. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 11, subfamily H, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 11, subfamily H, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 11, subfamily H, member 7 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jan 2017]
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olfactory trong>receptortrong>, family 11, subfamily H, member 6
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 11, subfamily H, member 4
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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tumor necrosis factor trong>receptortrong> superfamily, member 13B
The protetrong>introng> encoded by this gene is a lymphocyte-specific member of the tumor necrosis factor (TNF) trong>receptortrong> superfamily. It trong>introng>teracts with calcium-modulator and cyclophiltrong>introng> ligand (CAML). The protetrong>introng> trong>introng>duces activation of the transcription factors NFAT, AP1, and NF-kappa-B and plays a crucial role trong>introng> humoral immunity by trong>introng>teracttrong>introng>g with a TNF ligand. This gene is located withtrong>introng> the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
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tumor necrosis factor trong>receptortrong> superfamily, member 13C
B cell-activattrong>introng>g factor (BAFF) enhances B-cell survival trong>introng> vitro and is a regulator of the peripheral B-cell population. Overexpression of Baff trong>introng> mice results trong>introng> mature B-cell hyperplasia and symptoms of systemic lupus erythematosus (SLE). Also, some SLE patients have trong>introng>creased levels of BAFF trong>introng> serum. Therefore, it has been proposed that abnormally high levels of BAFF may contribute to the pathogenesis of autoimmune diseases by enhanctrong>introng>g the survival of autoreactive B cells. The protetrong>introng> encoded by this gene is a trong>receptortrong> for BAFF and is a type III transmembrane protetrong>introng> contatrong>introng>trong>introng>g a strong>introng>gle extracellular cystetrong>introng>e-rich domatrong>introng>. It is thought that this trong>receptortrong> is the prtrong>introng>cipal trong>receptortrong> required for BAFF-mediated mature B-cell survival. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily S, member 2 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily S, member 2 pseudogene
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olfactory trong>receptortrong>, family 1, subfamily S, member 2 pseudogene
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nuclear trong>receptortrong> subfamily 3, group C, member 2
This gene encodes the mtrong>introng>eralocorticoid trong>receptortrong>, which mediates aldosterone actions on salt and water balance withtrong>introng> restricted target cells. The protetrong>introng> functions as a ligand-dependent transcription factor that btrong>introng>ds to mtrong>introng>eralocorticoid response elements trong>introng> order to transactivate target genes. Mutations trong>introng> this gene cause autosomal domtrong>introng>ant pseudohypoaldosteronism type I, a disorder characterized by urtrong>introng>ary salt wasttrong>introng>g. Defects trong>introng> this gene are also associated with early onset hypertension with severe exacerbation trong>introng> pregnancy. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Oct 2009]
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olfactory trong>receptortrong>, family 6, subfamily C, member 76
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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cornichon family AMPA trong>receptortrong> auxiliary protetrong>introng> 4 pseudogene
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olfactory trong>receptortrong>, family 6, subfamily C, member 70
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 72 pseudogene
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olfactory trong>receptortrong>, family 7, subfamily E, member 25 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 126 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 49 pseudogene
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trong>introng>terleuktrong>introng> 11 trong>receptortrong>, alpha
trong>Introng>terleuktrong>introng> 11 is a stromal cell-derived cytoktrong>introng>e that belongs to a family of pleiotropic and redundant cytoktrong>introng>es that use the gp130 transductrong>introng>g subunit trong>introng> their high afftrong>introng>ity trong>receptortrong>s. This gene encodes the IL-11 trong>receptortrong>, which is a member of the hematopoietic cytoktrong>introng>e trong>receptortrong> family. This particular trong>receptortrong> is very similar to ciliary neurotrophic factor, strong>introng>ce both contatrong>introng> an extracellular region with a 2-domatrong>introng> structure composed of an immunoglobultrong>introng>-like domatrong>introng> and a cytoktrong>introng>e trong>receptortrong>-like domatrong>introng>. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]
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anaplastic lymphoma trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase
This gene encodes a trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase, which belongs to the trong>introng>sultrong>introng> trong>receptortrong> superfamily. This protetrong>introng> comprises an extracellular domatrong>introng>, an hydrophobic stretch correspondtrong>introng>g to a strong>introng>gle pass transmembrane region, and an trong>introng>tracellular ktrong>introng>ase domatrong>introng>. It plays an important role trong>introng> the development of the bratrong>introng> and exerts its effects on specific neurons trong>introng> the nervous system. This gene has been found to be rearranged, mutated, or amplified trong>introng> a series of tumours trong>introng>cludtrong>introng>g anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations trong>introng> this gene, which result trong>introng> creation of multiple fusion genes trong>introng> tumourigenesis, trong>introng>cludtrong>introng>g ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), ALK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by RefSeq, Jan 2011]
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leukocyte immunoglobultrong>introng>-like trong>receptortrong>, subfamily A (with TM domatrong>introng>), member 6
Predicted to be trong>introng>volved trong>introng> immune response-regulattrong>introng>g signaltrong>introng>g pathway. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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leukocyte immunoglobultrong>introng>-like trong>receptortrong>, subfamily A (with TM domatrong>introng>), member 4
This gene encodes an immunoglobultrong>introng>-like cell surface protetrong>introng> that is expressed predomtrong>introng>antly on plasmacytoid dendritic cells (PDCs) and modulates the function of these cells trong>introng> the immune response. Expression of this gene is downregulated by trong>introng>terleuktrong>introng> 3 (IL3). This gene is one of a cluster of highly related genes located at chromosomal region 19q13.4. [provided by RefSeq, Jan 2015]
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leukocyte immunoglobultrong>introng>-like trong>receptortrong>, subfamily A (with TM domatrong>introng>), member 5
The protetrong>introng> encoded by this gene is a member of the leukocyte immunoglobultrong>introng>-like trong>receptortrong> (LIR) family. LIR family members are known to have activattrong>introng>g and trong>introng>ibitory functions trong>introng> leukocytes. Crossltrong>introng>k of this trong>receptortrong> protetrong>introng> on the surface of monocytes has been shown to trong>introng>duce calcium flux and secretion of several protrong>introng>flammatory cytoktrong>introng>es, which suggests the roles of this protetrong>introng> trong>introng> triggertrong>introng>g trong>introng>nate immune responses. This gene is one of the leukocyte trong>receptortrong> genes that form a gene cluster on the chromosomal region 19q13.4. Four alternatively spliced transcript variants encodtrong>introng>g disttrong>introng>ct isoforms have been described. [provided by RefSeq, Jul 2008]
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leukocyte immunoglobultrong>introng>-like trong>receptortrong>, subfamily A (with TM domatrong>introng>), member 2
This gene encodes a member of a family of immunotrong>receptortrong>s that are expressed predomtrong>introng>antly on monocytes and B cells, and at lower levels on dendritic cells and natural killer cells. The encoded protetrong>introng> is an activattrong>introng>g trong>receptortrong> that trong>introng>hibits dendritic cell differentiation and antigen presentation and suppresses trong>introng>nate immune response. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found. This gene is located trong>introng> a cluster of related genes on chromosome 19 and there is a pseudogene for this gene on chromosome 3. [provided by RefSeq, Mar 2014]
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leukocyte immunoglobultrong>introng>-like trong>receptortrong>, subfamily A (without TM domatrong>introng>), member 3
This gene encodes a member of a family of immunotrong>receptortrong>s that are expressed predomtrong>introng>antly trong>introng> monocytes and B cells, and at lower levels trong>introng> dendritic cells and natural killer cells. The encoded protetrong>introng> lacks the transmembrane region found trong>introng> other members of this family. It acts as a soluble trong>receptortrong> for class I major histocompatibility complex (MHC) antigens. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found. This gene is located trong>introng> a cluster of related genes on chromosome 19 and is polymorphic trong>introng> human populations, with many trong>introng>dividuals contatrong>introng>trong>introng>g a deletion of this genomic region. [provided by RefSeq, Mar 2014]
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leukocyte immunoglobultrong>introng>-like trong>receptortrong>, subfamily A (with TM domatrong>introng>), member 1
This gene encodes an activattrong>introng>g member of the leukocyte immunoglobultrong>introng>-like trong>receptortrong> (LIR) family, which is found trong>introng> a gene cluster at chromosomal region 19q13.4. The encoded protetrong>introng> is predomtrong>introng>antly expressed trong>introng> B cells, trong>introng>teracts with major histocompatibility complex class I ligands, and contributes to the regulation of immune responses. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g different isoforms. [provided by RefSeq, May 2013]
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olfactory trong>receptortrong>, family 13, subfamily Z, member 3 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 52, subfamily Z, member 1 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jan 2017]
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olfactory trong>receptortrong>, family 5, subfamily G, member 5 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily AH, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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purtrong>introng>ergic trong>receptortrong> P2Y, G-protetrong>introng> coupled, 10 pseudogene 2
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purtrong>introng>ergic trong>receptortrong> P2Y, G-protetrong>introng> coupled, 10 pseudogene 1
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angiotenstrong>introng> II trong>receptortrong>, type 2
The protetrong>introng> encoded by this gene belongs to the G-protetrong>introng> coupled trong>receptortrong> 1 family, and functions as a trong>receptortrong> for angiotenstrong>introng> II. It is an trong>introng>tergral membrane protetrong>introng> that is highly expressed trong>introng> fetus and trong>introng> neonates, but scantily trong>introng> adult tissues, except bratrong>introng>, adrenal medulla, and atretic ovary. This trong>receptortrong> has been shown to mediate programmed cell death and this apoptotic function may play an important role trong>introng> developmental biology and pathophysiology. Mutations trong>introng> this gene are been associated with X-ltrong>introng>ked cognitive disability. Severe Acute Respiratory Syndrome Coronavirus (SARS-CoV) and SARS-CoV-2 trong>introng>fection results trong>introng> down-regulation of angiotenstrong>introng> converttrong>introng>g enzyme-2 (ACE2) trong>receptortrong>s, the effects of which, triggers serious trong>introng>flammatory lesions trong>introng> the tissues trong>introng>volved, primarily trong>introng> the lungs. The trong>introng>flammatory reaction appears to be mediated by angiotenstrong>introng> II derivatives, trong>introng>cludtrong>introng>g the angiotenstrong>introng> AT2 trong>receptortrong> which has been found to be upregulated trong>introng> bronchoalveolar lavage samples from Coronavirus disease 2019 (COVID19) patients. [provided by RefSeq, Jul 2020]
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angiotenstrong>introng> II trong>receptortrong>, type 1
Angiotenstrong>introng> II is a potent vasopressor hormone and a primary regulator of aldosterone secretion. It is an important effector controlltrong>introng>g blood pressure and volume trong>introng> the cardiovascular system. It acts through at least two types of trong>receptortrong>s. This gene encodes the type 1 trong>receptortrong> which is thought to mediate the major cardiovascular effects of angiotenstrong>introng> II. This gene may play a role trong>introng> the generation of reperfusion arrhythmias followtrong>introng>g restoration of blood flow to ischemic or trong>introng>farcted myocardium. It was previously thought that a related gene, denoted as AGTR1B, existed; however, it is now believed that there is only one type 1 trong>receptortrong> gene trong>introng> humans. Alternative splictrong>introng>g of this gene results trong>introng> multiple transcript variants. [provided by RefSeq, Aug 2020]
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olfactory trong>receptortrong>, family 4, subfamily A, member 46 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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MAS1 proto-oncogene like, G protetrong>introng>-coupled trong>receptortrong>
Predicted to enable angiotenstrong>introng> trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway. Located trong>introng> cytosol; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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adenylate cyclase activattrong>introng>g polypeptide 1 (pituitary) trong>receptortrong> type I
This gene encodes type I adenylate cyclase activattrong>introng>g polypeptide trong>receptortrong>, which is a membrane-associated protetrong>introng> and shares significant homology with members of the glucagon/secrettrong>introng> trong>receptortrong> family. This trong>receptortrong> mediates diverse biological actions of adenylate cyclase activattrong>introng>g polypeptide 1 and is positively coupled to adenylate cyclase. Multiple alternatively spliced transcript variants encodtrong>introng>g disttrong>introng>ct isoforms have been identified. [provided by RefSeq, Dec 2010]
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nuclear trong>receptortrong> subfamily 1, group H, member 3
The protetrong>introng> encoded by this gene belongs to the NR1 subfamily of the nuclear trong>receptortrong> superfamily. The NR1 family members are key regulators of macrophage function, controlltrong>introng>g transcriptional programs trong>introng>volved trong>introng> lipid homeostasis and trong>introng>flammation. This protetrong>introng> is highly expressed trong>introng> visceral organs, trong>introng>cludtrong>introng>g liver, kidney and trong>introng>testtrong>introng>e. It forms a heterodimer with rettrong>introng>oid X trong>receptortrong> (RXR), and regulates expression of target genes contatrong>introng>trong>introng>g rettrong>introng>oid response elements. Studies trong>introng> mice lacktrong>introng>g this gene suggest that it may play an important role trong>introng> the regulation of cholesterol homeostasis. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
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ryanodtrong>introng>e trong>receptortrong> 1 (skeletal)
This gene encodes a ryanodtrong>introng>e trong>receptortrong> found trong>introng> skeletal muscle. The encoded protetrong>introng> functions as a calcium release channel trong>introng> the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations trong>introng> this gene are associated with malignant hyperthermia susceptibility, central core disease, and mtrong>introng>icore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encodtrong>introng>g different isoforms have been described. [provided by RefSeq, Jul 2008]
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ryanodtrong>introng>e trong>receptortrong> 3
The protetrong>introng> encoded by this gene is a ryanodtrong>introng>e trong>receptortrong>, which functions to release calcium from trong>introng>tracellular storage for use trong>introng> many cellular processes. For example, the encoded protetrong>introng> is trong>introng>volved trong>introng> skeletal muscle contraction by releastrong>introng>g calcium from the sarcoplasmic reticulum followed by depolarization of T-tubules. Two transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
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olfactory trong>receptortrong>, family 10, subfamily B, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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neuropeptide Y trong>receptortrong> type 4-like
Enables pancreatic polypeptide trong>receptortrong> activity and peptide hormone btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway. Located trong>introng> membrane. [provided by Alliance of Genome Resources, Mar 2025]
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TNF trong>receptortrong>-associated protetrong>introng> 1
This gene encodes a mitochondrial chaperone protetrong>introng> that is member of the heat shock protetrong>introng> 90 (HSP90) family. The encoded protetrong>introng> has ATPase activity and trong>introng>teracts with tumor necrosis factor type I. This protetrong>introng> may function trong>introng> regulattrong>introng>g cellular stress responses. Alternate splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jan 2013]
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olfactory trong>receptortrong>, family 7, subfamily E, member 59 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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cholecystoktrong>introng>trong>introng> A trong>receptortrong>
This gene encodes a G-protetrong>introng> coupled trong>receptortrong> that btrong>introng>ds non-sulfated members of the cholecystoktrong>introng>trong>introng> (CCK) family of peptide hormones. This trong>receptortrong> is a major physiologic mediator of pancreatic enzyme secretion and smooth muscle contraction of the gallbladder and stomach. trong>Introng> the central and peripheral nervous system this trong>receptortrong> regulates satiety and the release of trong>betatrong>-endorphtrong>introng> and dopamtrong>introng>e. [provided by RefSeq, Jul 2008]
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vomeronasal 2 trong>receptortrong> 12 pseudogene
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folate trong>receptortrong> 1 (adult)
The protetrong>introng> encoded by this gene is a member of the folate trong>receptortrong> family. Members of this gene family btrong>introng>d folic acid and its reduced derivatives, and transport 5-methyltetrahydrofolate trong>introng>to cells. This gene product is a secreted protetrong>introng> that either anchors to membranes via a glycosyl-phosphatidyltrong>introng>ositol ltrong>introng>kage or exists trong>introng> a soluble form. Mutations trong>introng> this gene have been associated with neurodegeneration due to cerebral folate transport deficiency. Due to the presence of two promoters, multiple transcription start sites, and alternative splictrong>introng>g, multiple transcript variants encodtrong>introng>g the same protetrong>introng> have been found for this gene. [provided by RefSeq, Oct 2009]
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olfactory trong>receptortrong>, family 5, subfamily AM, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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aryl hydrocarbon trong>receptortrong> trong>introng>teracttrong>introng>g protetrong>introng>
The protetrong>introng> encoded by this gene is a trong>receptortrong> for aryl hydrocarbons and a ligand-activated transcription factor. The encoded protetrong>introng> is found trong>introng> the cytoplasm as part of a multiprotetrong>introng> complex, but upon btrong>introng>dtrong>introng>g of ligand is transported to the nucleus. This protetrong>introng> can regulate the expression of many xenobiotic metaboliztrong>introng>g enzymes. Also, the encoded protetrong>introng> can btrong>introng>d specifically to and trong>introng>hibit the activity of hepatitis B virus. Three transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]
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histamtrong>introng>e trong>receptortrong> H4
Histamtrong>introng>e is a ubiquitous messenger molecule released from mast cells, enterochromafftrong>introng>-like cells, and neurons. Its various actions are mediated by a family of histamtrong>introng>e trong>receptortrong>s, which are a subset of the G-protetrong>introng> coupled trong>receptortrong> superfamily. This gene encodes a histamtrong>introng>e trong>receptortrong> that is predomtrong>introng>antly expressed trong>introng> haematopoietic cells. The protetrong>introng> is thought to play a role trong>introng> trong>introng>flammation and allergy reponses. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, May 2009]
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histamtrong>introng>e trong>receptortrong> H2
Histamtrong>introng>e is a ubiquitous messenger molecule released from mast cells, enterochromafftrong>introng>-like cells, and neurons. Its various actions are mediated by histamtrong>introng>e trong>receptortrong>s H1, H2, H3 and H4. Histamtrong>introng>e trong>receptortrong> H2 belongs to the family 1 of G protetrong>introng>-coupled trong>receptortrong>s. It is an trong>introng>tegral membrane protetrong>introng> and stimulates gastric acid secretion. It also regulates gastrotrong>introng>testtrong>introng>al motility and trong>introng>testtrong>introng>al secretion and is thought to be trong>introng>volved trong>introng> regulattrong>introng>g cell growth and differentiation. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
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histamtrong>introng>e trong>receptortrong> H3
Histamtrong>introng>e is a ubiquitous messenger molecule released from mast cells, enterochromafftrong>introng>-like cells, and neurons. Its various actions are mediated by histamtrong>introng>e trong>receptortrong>s H1, H2, H3 and H4. This gene encodes one of the histamtrong>introng>e trong>receptortrong>s (H3) which belongs to the family 1 of G protetrong>introng>-coupled trong>receptortrong>s. It is an trong>introng>tegral membrane protetrong>introng> and can regulate neurotransmitter release. This trong>receptortrong> can also trong>introng>crease voltage-dependent calcium current trong>introng> smooth muscles and trong>introng>nervates the blood vessels and the heart trong>introng> cardiovascular system. [provided by RefSeq, Jul 2008]
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histamtrong>introng>e trong>receptortrong> H1
Histamtrong>introng>e is a ubiquitous messenger molecule released from mast cells, enterochromafftrong>introng>-like cells, and neurons. Its various actions are mediated by histamtrong>introng>e trong>receptortrong>s H1, H2, H3 and H4. The protetrong>introng> encoded by this gene is an trong>introng>tegral membrane protetrong>introng> and belongs to the G protetrong>introng>-coupled trong>receptortrong> superfamily. It mediates the contraction of smooth muscles, the trong>introng>crease trong>introng> capillary permeability due to contraction of termtrong>introng>al venules, the release of catecholamtrong>introng>e from adrenal medulla, and neurotransmission trong>introng> the central nervous system. It has been associated with multiple processes, trong>introng>cludtrong>introng>g memory and learntrong>introng>g, circadian rhythm, and thermoregulation. It is also known to contribute to the pathophysiology of allergic diseases such as atopic dermatitis, asthma, anaphylaxis and allergic rhtrong>introng>itis. Multiple alternatively spliced variants, encodtrong>introng>g the same protetrong>introng>, have been identified. [provided by RefSeq, Jan 2015]
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olfactory trong>receptortrong>, family 13, subfamily I, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily H, member 6 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily P, member 3
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily P, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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G protetrong>introng>-coupled trong>receptortrong> 75
GPR75 is a member of the G protetrong>introng>-coupled trong>receptortrong> family. GPRs are cell surface trong>receptortrong>s that activate guantrong>introng>e-nucleotide btrong>introng>dtrong>introng>g protetrong>introng>s upon the btrong>introng>dtrong>introng>g of a ligand.[supplied by OMIM, Jul 2002]
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olfactory trong>receptortrong>, family 1, subfamily P, member 1 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jan 2017]
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lutetrong>introng>iztrong>introng>g hormone/choriogonadotroptrong>introng> trong>receptortrong>
This gene encodes the trong>receptortrong> for both lutetrong>introng>iztrong>introng>g hormone and choriogonadotroptrong>introng>. This trong>receptortrong> belongs to the G-protetrong>introng> coupled trong>receptortrong> 1 family, and its activity is mediated by G protetrong>introng>s which activate adenylate cyclase. Mutations trong>introng> this gene result trong>introng> disorders of male secondary sexual character development, trong>introng>cludtrong>introng>g familial male precocious puberty, also known as testotoxicosis, hypogonadotropic hypogonadism, Leydig cell adenoma with precocious puberty, and male pseudohermaphtoditism with Leydig cell hypoplasia. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 1, subfamily Q, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 22 pseudogene
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vomeronasal 1 trong>receptortrong> 9 pseudogene
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olfactory trong>receptortrong>, family 10, subfamily AH, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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SRC proto-oncogene, non-trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase
This gene is highly similar to the v-src gene of Rous sarcoma virus. This proto-oncogene may play a role trong>introng> the regulation of embryonic development and cell growth. The protetrong>introng> encoded by this gene is a tyrostrong>introng>e-protetrong>introng> ktrong>introng>ase whose activity can be trong>introng>hibited by phosphorylation by c-SRC ktrong>introng>ase. Mutations trong>introng> this gene could be trong>introng>volved trong>introng> the malignant progression of colon cancer. Two transcript variants encodtrong>introng>g the same protetrong>introng> have been found for this gene. [provided by RefSeq, Jul 2008]
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CGRP trong>receptortrong> component pseudogene
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olfactory trong>receptortrong>, family 2, subfamily AT, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 13, subfamily D, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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plasmtrong>introng>ogen activator, uroktrong>introng>ase trong>receptortrong>
This gene encodes the trong>receptortrong> for uroktrong>introng>ase plasmtrong>introng>ogen activator and, given its role trong>introng> localiztrong>introng>g and promottrong>introng>g plasmtrong>introng> formation, likely trong>introng>fluences many normal and pathological processes related to cell-surface plasmtrong>introng>ogen activation and localized degradation of the extracellular matrix. It btrong>introng>ds both the proprotetrong>introng> and mature forms of uroktrong>introng>ase plasmtrong>introng>ogen activator and permits the activation of the trong>receptortrong>-bound pro-enzyme by plasmtrong>introng>. The protetrong>introng> lacks transmembrane or cytoplasmic domatrong>introng>s and may be anchored to the plasma membrane by a glycosyl-phosphatidyltrong>introng>ositol (GPI) moiety followtrong>introng>g cleavage of the nascent polypeptide near its carboxy-termtrong>introng>us. However, a soluble protetrong>introng> is also produced trong>introng> some cell types. Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g different isoforms. The proprotetrong>introng> experiences several post-translational cleavage reactions that have not yet been fully deftrong>introng>ed. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily D, member 9 pseudogene
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olfactory trong>receptortrong>, family 9, subfamily G, member 9 pseudogene
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olfactory trong>receptortrong>, family 8, subfamily H, member 3 pseudogene
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olfactory trong>receptortrong>, family 8, subfamily H, member 3 pseudogene
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olfactory trong>receptortrong>, family 5, subfamily R, member 1 pseudogene
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olfactory trong>receptortrong>, family 8, subfamily K, member 5 pseudogene
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olfactory trong>receptortrong>, family 5, subfamily J, member 2 pseudogene
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olfactory trong>receptortrong>, family 5, subfamily J, member 2 pseudogene
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polymeric immunoglobultrong>introng> trong>receptortrong>
This gene is a member of the immunoglobultrong>introng> superfamily. The encoded poly-Ig trong>receptortrong> btrong>introng>ds polymeric immunoglobultrong>introng> molecules at the basolateral surface of epithelial cells; the complex is then transported across the cell to be secreted at the apical surface. A significant association was found between immunoglobultrong>introng> A nephropathy and several SNPs trong>introng> this gene.[provided by RefSeq, Sep 2009]
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trong>receptortrong>-like tyrostrong>introng>e ktrong>introng>ase pseudogene 1
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vomeronasal 1 trong>receptortrong> 96 pseudogene
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neurotrophic tyrostrong>introng>e ktrong>introng>ase, trong>receptortrong>, type 1
This gene encodes a member of the neurotrophic tyrostrong>introng>e ktrong>introng>ase trong>receptortrong> (NTKR) family. This ktrong>introng>ase is a membrane-bound trong>receptortrong> that, upon neurotrophtrong>introng> btrong>introng>dtrong>introng>g, phosphorylates itself and members of the MAPK pathway. The presence of this ktrong>introng>ase leads to cell differentiation and may play a role trong>introng> specifytrong>introng>g sensory neuron subtypes. Mutations trong>introng> this gene have been associated with congenital trong>introng>sensitivity to patrong>introng>, anhidrosis, self-mutilattrong>introng>g behavior, cognitive disability and cancer. Alternate transcriptional splice variants of this gene have been found, but only three have been characterized to date. [provided by RefSeq, Jul 2008]
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neurotrophic tyrostrong>introng>e ktrong>introng>ase, trong>receptortrong>, type 2
This gene encodes a member of the neurotrophic tyrostrong>introng>e trong>receptortrong> ktrong>introng>ase (NTRK) family. This ktrong>introng>ase is a membrane-bound trong>receptortrong> that, upon neurotrophtrong>introng> btrong>introng>dtrong>introng>g, phosphorylates itself and members of the MAPK pathway. Signalltrong>introng>g through this ktrong>introng>ase leads to cell differentiation. Mutations trong>introng> this gene have been associated with obesity and mood disorders. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, May 2014]
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neurotrophic tyrostrong>introng>e ktrong>introng>ase, trong>receptortrong>, type 3
This gene encodes a member of the neurotrophic tyrostrong>introng>e trong>receptortrong> ktrong>introng>ase (NTRK) family. This ktrong>introng>ase is a membrane-bound trong>receptortrong> that, upon neurotrophtrong>introng> btrong>introng>dtrong>introng>g, phosphorylates itself and members of the MAPK pathway. Signalltrong>introng>g through this ktrong>introng>ase leads to cell differentiation and may play a role trong>introng> the development of proprioceptive neurons that sense body position. Mutations trong>introng> this gene have been associated with medulloblastomas, secretory breast carctrong>introng>omas and other cancers. Several transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
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G protetrong>introng>-coupled trong>receptortrong> 3
This gene is a member of the G protetrong>introng>-coupled trong>receptortrong> family and is found trong>introng> the cell membrane. G protetrong>introng>-coupled trong>receptortrong>s, characterized by a seven transmembrane domatrong>introng> motif, are trong>introng>volved trong>introng> translattrong>introng>g outside signals trong>introng>to G protetrong>introng> mediated trong>introng>tracellular effects. The encoded protetrong>introng> activates adenylate cyclase and modulates amyloid-trong>betatrong> production trong>introng> a mouse model, suggesttrong>introng>g that it may play a role trong>introng> Alzheimer's disease. [provided by RefSeq, Oct 2012]
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G protetrong>introng>-coupled trong>receptortrong> 1
Enables adipoktrong>introng>etic hormone btrong>introng>dtrong>introng>g activity and adipoktrong>introng>etic hormone trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> glucose homeostasis and neuropeptide signaltrong>introng>g pathway. Located trong>introng> nucleoplasm and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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G protetrong>introng>-coupled trong>receptortrong> 6
Predicted to enable sphtrong>introng>gostrong>introng>e-1-phosphate trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> adenylate cyclase-activattrong>introng>g G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway and regulation of metabolic process. Predicted to act upstream of or withtrong>introng> positive regulation of cytosolic calcium ion concentration. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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G protetrong>introng>-coupled trong>receptortrong> 4
Enables G protetrong>introng>-coupled trong>receptortrong> activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway; positive regulation of Rho protetrong>introng> signal transduction; and response to acidic pH. Located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong>, family 7, subfamily E, member 94 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 36 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 11, subfamily P, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 9, subfamily A, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily AL, member 1 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jan 2017]
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prolacttrong>introng> releastrong>introng>g hormone trong>receptortrong>
Predicted to enable neuropeptide btrong>introng>dtrong>introng>g activity and neuropeptide trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway. Predicted to act upstream of or withtrong>introng> feedtrong>introng>g behavior and hormone metabolic process. Located trong>introng> cilium. Implicated trong>introng> hypertension. [provided by Alliance of Genome Resources, Mar 2025]
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scavenger trong>receptortrong> class B, member 1 pseudogene
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protetrong>introng> tyrostrong>introng>e phosphatase, trong>receptortrong> type, V, pseudogene
Predicted to enable protetrong>introng> tyrostrong>introng>e phosphatase activity. Predicted to act upstream of or withtrong>introng> several processes, trong>introng>cludtrong>introng>g DNA damage response, signal transduction by p53 class mediator resulttrong>introng>g trong>introng> cell cycle arrest; negative regulation of trong>introng>sultrong>introng> secretion; and type B pancreatic cell proliferation. [provided by Alliance of Genome Resources, Mar 2025]
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golgi SNAP trong>receptortrong> complex member 1
This gene encodes a trafficktrong>introng>g membrane protetrong>introng> which transports protetrong>introng>s among the endoplasmic reticulum and the Golgi and between Golgi compartments. This protetrong>introng> is considered an essential component of the Golgi SNAP trong>receptortrong> (SNARE) complex. Alternatively spliced transcript variants encodtrong>introng>g disttrong>introng>ct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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taste trong>receptortrong>, type 2, member 9
This gene product belongs to the family of candidate taste trong>receptortrong>s that are members of the G-protetrong>introng>-coupled trong>receptortrong> superfamily. These protetrong>introng>s are specifically expressed trong>introng> the taste trong>receptortrong> cells of the tongue and palate epithelia. They are organized trong>introng> the genome trong>introng> clusters and are genetically ltrong>introng>ked to loci that trong>introng>fluence bitter perception trong>introng> mice and humans. trong>Introng> functional expression studies, they respond to bitter tastants. This gene maps to the taste trong>receptortrong> gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]
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taste trong>receptortrong>, type 2, member 7
This gene product belongs to the family of candidate taste trong>receptortrong>s that are members of the G-protetrong>introng>-coupled trong>receptortrong> superfamily. These protetrong>introng>s are specifically expressed trong>introng> the taste trong>receptortrong> cells of the tongue and palate epithelia. They are organized trong>introng> the genome trong>introng> clusters and are genetically ltrong>introng>ked to loci that trong>introng>fluence bitter perception trong>introng> mice and humans. trong>Introng> functional expression studies, they respond to bitter tastants. This gene maps to the taste trong>receptortrong> gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]
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taste trong>receptortrong>, type 2, member 4
This gene encodes a member of a family of candidate taste trong>receptortrong>s that are members of the G protetrong>introng>-coupled trong>receptortrong> superfamily and that are specifically expressed by taste trong>receptortrong> cells of the tongue and palate epithelia. These apparently trong>introng>tronless genes encode a 7-transmembrane trong>receptortrong> protetrong>introng>, functiontrong>introng>g as a bitter taste trong>receptortrong>. This gene is clustered with another 3 candidate taste trong>receptortrong> genes trong>introng> chromosome 7 and is genetically ltrong>introng>ked to loci that trong>introng>fluence bitter perception. [provided by RefSeq, Jul 2008]
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taste trong>receptortrong>, type 2, member 5
This gene encodes a bitter taste trong>receptortrong>; bitter taste trong>receptortrong>s are members of the G protetrong>introng>-coupled trong>receptortrong> superfamily and are specifically expressed by taste trong>receptortrong> cells of the tongue and palate epithelia. Each of these apparently trong>introng>tronless taste trong>receptortrong> genes encodes a 7-transmembrane trong>receptortrong> protetrong>introng>, functiontrong>introng>g as a bitter taste trong>receptortrong>. This gene is clustered with another 3 candidate taste trong>receptortrong> genes on chromosome 7 and is genetically ltrong>introng>ked to loci that trong>introng>fluence bitter perception. [provided by RefSeq, Jul 2008]
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taste trong>receptortrong>, type 2, member 3
This gene encodes a member of a family of candidate taste trong>receptortrong>s that are members of the G protetrong>introng>-coupled trong>receptortrong> superfamily and that are specifically expressed by taste trong>receptortrong> cells of the tongue and palate epithelia. These apparently trong>introng>tronless taste trong>receptortrong> genes encode a 7-transmembrane trong>receptortrong> protetrong>introng>, functiontrong>introng>g as a bitter taste trong>receptortrong>. This gene is clustered with another 3 candidate taste trong>receptortrong> genes trong>introng> chromosome 7 and is genetically ltrong>introng>ked to loci that trong>introng>fluence bitter perception. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 52, subfamily U, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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purtrong>introng>ergic trong>receptortrong> P2Y, G-protetrong>introng> coupled, 8
The protetrong>introng> encoded by this gene belongs to the family of G-protetrong>introng> coupled trong>receptortrong>s, that are preferentially activated by adenostrong>introng>e and uridtrong>introng>e nucleotides. This gene is moderately expressed trong>introng> undifferentiated HL60 cells, and is located on both chromosomes X and Y. [provided by RefSeq, Jul 2008]
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purtrong>introng>ergic trong>receptortrong> P2Y, G-protetrong>introng> coupled, 2
The product of this gene belongs to the family of P2 trong>receptortrong>s, which is activated by extracellular nucleotides and subdivided trong>introng>to P2X ligand-gated ion channels and P2Y G-protetrong>introng> coupled trong>receptortrong>s. This family has several trong>receptortrong> subtypes with different pharmacological selectivity, which overlaps trong>introng> some cases, for various adenostrong>introng>e and uridtrong>introng>e nucleotides. This trong>receptortrong>, found on many cell types, is activated by ATP and UTP and is reported to be overexpressed on some cancer cell types. It is trong>introng>volved trong>introng> many cellular functions, such as proliferation, apoptosis and trong>introng>flammation. Three transcript variants encodtrong>introng>g the same protetrong>introng> have been identified for this gene. [provided by RefSeq, Mar 2013]
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purtrong>introng>ergic trong>receptortrong> P2Y, G-protetrong>introng> coupled, 1
The product of this gene belongs to the family of G-protetrong>introng> coupled trong>receptortrong>s. This family has several trong>receptortrong> subtypes with different pharmacological selectivity, which overlaps trong>introng> some cases, for various adenostrong>introng>e and uridtrong>introng>e nucleotides. This trong>receptortrong> functions as a trong>receptortrong> for extracellular ATP and ADP. trong>Introng> platelets btrong>introng>dtrong>introng>g to ADP leads to mobilization of trong>introng>tracellular calcium ions via activation of phospholipase C, a change trong>introng> platelet shape, and probably to platelet aggregation. [provided by RefSeq, Jul 2008]
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pyrimidtrong>introng>ergic trong>receptortrong> P2Y, G-protetrong>introng> coupled, 6
The product of this gene belongs to the family of P2 trong>receptortrong>s, which is activated by extracellular nucleotides and subdivided trong>introng>to P2X ligand-gated ion channels and P2Y G-protetrong>introng> coupled trong>receptortrong>s. This family has several trong>receptortrong> subtypes with different pharmacological selectivity, which overlaps trong>introng> some cases, for various adenostrong>introng>e and uridtrong>introng>e nucleotides. This trong>receptortrong>, which is a G-protetrong>introng> coupled trong>receptortrong>, is responsive to UDP, partially responsive to UTP and ADP, and not responsive to ATP. It is proposed that this trong>receptortrong> mediates trong>introng>flammatory responses. Alternative splictrong>introng>g results trong>introng> multiple transcript variants that encode different protetrong>introng> isoforms. [provided by RefSeq, Mar 2013]
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pyrimidtrong>introng>ergic trong>receptortrong> P2Y, G-protetrong>introng> coupled, 4
The product of this gene belongs to the family of G-protetrong>introng> coupled trong>receptortrong>s. This family has several trong>receptortrong> subtypes with different pharmacological selectivity, which overlaps trong>introng> some cases, for various adenostrong>introng>e and uridtrong>introng>e nucleotides. This trong>receptortrong> is responsive to uridtrong>introng>e nucleotides, partially responsive to ATP, and not responsive to ADP. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily G, member 6 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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rettrong>introng>oic acid trong>receptortrong> responder (tazarotene trong>introng>duced) 2 pseudogene 8
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rettrong>introng>oic acid trong>receptortrong> responder (tazarotene trong>introng>duced) 2 pseudogene 2
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olfactory trong>receptortrong>, family 7, subfamily E, member 159 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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rettrong>introng>oic acid trong>receptortrong> responder (tazarotene trong>introng>duced) 2 pseudogene 1
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rettrong>introng>oic acid trong>receptortrong> responder (tazarotene trong>introng>duced) 2 pseudogene 4
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adhesion G protetrong>introng>-coupled trong>receptortrong> E4, pseudogene
This gene is a member of the EGF-TM7 trong>receptortrong> gene family which is thought to play a role trong>introng> leukocyte adhesion and migration. trong>Introng> other vertebrates, trong>introng>cludtrong>introng>g nonhuman primates, this gene encodes a protetrong>introng> contatrong>introng>trong>introng>g N-termtrong>introng>al EGF domatrong>introng>s and a C-termtrong>introng>al transmembrane domatrong>introng>. Sequence evidence for the human gene, however, trong>introng>dicates nucleotide deletion trong>introng> the genomic sequence would result trong>introng> frameshift and early termtrong>introng>ation of translation. A protetrong>introng> expressed by this gene would be soluble rather than expressed on the cell surface. As the encoded protetrong>introng> has not been detected, this gene may represent a transcribed pseudogene. [provided by RefSeq, Aug 2008]
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olfactory trong>receptortrong>, family 6, subfamily T, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 41 pseudogene
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olfactory trong>receptortrong>, family 5, subfamily BL, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 58 pseudogene
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scavenger trong>receptortrong> class A, member 3
This gene encodes a macrophage scavenger trong>receptortrong>-like protetrong>introng>. This protetrong>introng> has been shown to deplete reactive oxygen species, and thus play an important role trong>introng> protecttrong>introng>g cells from oxidative stress. The expression of this gene is trong>introng>duced by oxidative stress. Alternatively spliced transcript variants encodtrong>introng>g disttrong>introng>ct isoforms have been described. [provided by RefSeq, Jul 2008]
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scavenger trong>receptortrong> class A, member 5
Predicted to enable ferrittrong>introng> trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g trong>introng>tracellular iron ion homeostasis; iron ion transmembrane transport; and protetrong>introng> homotrimerization. Predicted to act upstream of or withtrong>introng> cellular response to heat. Predicted to be located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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free fatty acid trong>receptortrong> 2
This gene encodes a member of the GP40 family of G protetrong>introng>-coupled trong>receptortrong>s that are clustered together on chromosome 19. The encoded protetrong>introng> is a trong>receptortrong> for short trong>chatrong>introng>trong> free fatty acids and may be trong>introng>volved trong>introng> the trong>introng>flammatory response and trong>introng> regulattrong>introng>g lipid plasma levels. [provided by RefSeq, Apr 2009]
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free fatty acid trong>receptortrong> 3
Enables G protetrong>introng>-coupled trong>receptortrong> activity. trong>Introng>volved trong>introng> adenylate cyclase-trong>introng>hibittrong>introng>g G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway and cellular response to fatty acid. Located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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erb-b2 trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase 2
This gene encodes a member of the epidermal growth factor (EGF) trong>receptortrong> family of trong>receptortrong> tyrostrong>introng>e ktrong>introng>ases. This protetrong>introng> has no ligand btrong>introng>dtrong>introng>g domatrong>introng> of its own and therefore cannot btrong>introng>d growth factors. However, it does btrong>introng>d tightly to other ligand-bound EGF trong>receptortrong> family members to form a heterodimer, stabiliztrong>introng>g ligand btrong>introng>dtrong>introng>g and enhanctrong>introng>g ktrong>introng>ase-mediated activation of downstream signalltrong>introng>g pathways, such as those trong>introng>volvtrong>introng>g mitogen-activated protetrong>introng> ktrong>introng>ase and phosphatidyltrong>introng>ositol-3 ktrong>introng>ase. Allelic variations at amtrong>introng>o acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported trong>introng> numerous cancers, trong>introng>cludtrong>introng>g breast and ovarian tumors. Alternative splictrong>introng>g results trong>introng> several additional transcript variants, some encodtrong>introng>g different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008]
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erb-b2 trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase 3
This gene encodes a member of the epidermal growth factor trong>receptortrong> (EGFR) family of trong>receptortrong> tyrostrong>introng>e ktrong>introng>ases. This membrane-bound protetrong>introng> has a neuregultrong>introng> btrong>introng>dtrong>introng>g domatrong>introng> but not an active ktrong>introng>ase domatrong>introng>. It therefore can btrong>introng>d this ligand but not convey the signal trong>introng>to the cell through protetrong>introng> phosphorylation. However, it does form heterodimers with other EGF trong>receptortrong> family members which do have ktrong>introng>ase activity. Heterodimerization leads to the activation of pathways which lead to cell proliferation or differentiation. Amplification of this gene and/or overexpression of its protetrong>introng> have been reported trong>introng> numerous cancers, trong>introng>cludtrong>introng>g prostate, bladder, and breast tumors. Alternate transcriptional splice variants encodtrong>introng>g different isoforms have been characterized. One isoform lacks the trong>introng>termembrane region and is secreted outside the cell. This form acts to modulate the activity of the membrane-bound form. Additional splice variants have also been reported, but they have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
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erb-b2 trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase 4
This gene is a member of the Tyr protetrong>introng> ktrong>introng>ase family and the epidermal growth factor trong>receptortrong> subfamily. It encodes a strong>introng>gle-pass type I membrane protetrong>introng> with multiple cystetrong>introng>e rich domatrong>introng>s, a transmembrane domatrong>introng>, a tyrostrong>introng>e ktrong>introng>ase domatrong>introng>, a phosphotidyltrong>introng>ositol-3 ktrong>introng>ase btrong>introng>dtrong>introng>g site and a PDZ domatrong>introng> btrong>introng>dtrong>introng>g motif. The protetrong>introng> btrong>introng>ds to and is activated by neuregultrong>introng>s and other factors and trong>introng>duces a variety of cellular responses trong>introng>cludtrong>introng>g mitogenesis and differentiation. Multiple proteolytic events allow for the release of a cytoplasmic fragment and an extracellular fragment. Mutations trong>introng> this gene have been associated with cancer. Alternatively spliced variants which encode different protetrong>introng> isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
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formyl peptide trong>receptortrong> 1
This gene encodes a G protetrong>introng>-coupled trong>receptortrong> of mammalian phagocytic cells that is a member of the G-protetrong>introng> coupled trong>receptortrong> 1 family. The protetrong>introng> mediates the response of phagocytic cells to trong>introng>vasion of the host by microorganisms and is important trong>introng> host defense and trong>introng>flammation.[provided by RefSeq, Jul 2010]
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formyl peptide trong>receptortrong> 2
Enables amyloid-trong>betatrong> btrong>introng>dtrong>introng>g activity; scavenger trong>receptortrong> btrong>introng>dtrong>introng>g activity; and signaltrong>introng>g trong>receptortrong> activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g cellular response to amyloid-trong>betatrong>; positive regulation of ERK1 and ERK2 cascade; and regulation of defense response. Located trong>introng> cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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formyl peptide trong>receptortrong> 3
Predicted to enable N-formyl peptide trong>receptortrong> activity and complement trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g complement trong>receptortrong> mediated signaltrong>introng>g pathway; phospholipase C-activattrong>introng>g G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway; and positive regulation of cytosolic calcium ion concentration. Predicted to act upstream of or withtrong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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scavenger trong>receptortrong> cystetrong>introng>e rich family, 4 domatrong>introng>s
The scavenger trong>receptortrong> cystetrong>introng>e-rich (SRCR) superfamily is an ancient and highly conserved group of cell surface and/or secreted protetrong>introng>s, some of which are trong>introng>volved trong>introng> the development of the immune system and the regulation of both trong>introng>nate and adaptive immune responses. Group B SRCR domatrong>introng>s usually contatrong>introng> 8 regularly spaced cystetrong>introng>es that give rise to a well-deftrong>introng>ed trong>introng>tradomatrong>introng> disulfide-bond pattern.[supplied by OMIM, Apr 2004]
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taste trong>receptortrong>, type 2, member 36
Predicted to enable G protetrong>introng>-coupled trong>receptortrong> activity and bitter taste trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway and detection of chemical stimulus trong>introng>volved trong>introng> sensory perception of bitter taste. Predicted to be located trong>introng> plasma membrane. Predicted to be active trong>introng> membrane. [provided by Alliance of Genome Resources, Mar 2025]
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taste trong>receptortrong>, type 2, member 37
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taste trong>receptortrong>, type 2, member 33
Predicted to enable G protetrong>introng>-coupled trong>receptortrong> activity and bitter taste trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway and detection of chemical stimulus trong>introng>volved trong>introng> sensory perception of bitter taste. Predicted to be located trong>introng> plasma membrane. Predicted to be active trong>introng> membrane. [provided by Alliance of Genome Resources, Mar 2025]
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taste trong>receptortrong>, type 2, member 30
Enables bitter taste trong>receptortrong> activity. trong>Introng>volved trong>introng> detection of chemical stimulus trong>introng>volved trong>introng> sensory perception of bitter taste. Predicted to be located trong>introng> plasma membrane. Predicted to be active trong>introng> membrane. [provided by Alliance of Genome Resources, Mar 2025]
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taste trong>receptortrong>, type 2, member 31
TAS2R44 belongs to the large TAS2R trong>receptortrong> family. TAS2Rs are expressed on the surface of taste trong>receptortrong> cells and mediate the perception of bitterness through a G protetrong>introng>-coupled second messenger pathway (Conte et al., 2002 [PubMed 12584440]). For further trong>introng>formation on TAS2Rs, see MIM 604791.[supplied by OMIM, Mar 2009]
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taste trong>receptortrong>, type 2, member 38
This gene encodes a seven-transmembrane G protetrong>introng>-coupled trong>receptortrong> that controls the ability to taste glucostrong>introng>olates, a family of bitter-tasttrong>introng>g compounds found trong>introng> plants of the Brassica sp. Synthetic compounds phenylthiocarbamide (PTC) and 6-n-propylthiouracil (PROP) have been identified as ligands for this trong>receptortrong> and have been used to test the genetic diversity of this gene. Although several allelic forms of this gene have been identified worldwide, there are two predomtrong>introng>ant common forms (taster and non-taster) found outside of Africa. These alleles differ at three nucleotide positions resulttrong>introng>g trong>introng> amtrong>introng>o acid changes trong>introng> the protetrong>introng> (A49P, A262V, and V296I) with the amtrong>introng>o acid combtrong>introng>ation PAV identifytrong>introng>g the taster variant (and AVI identifytrong>introng>g the non-taster variant). [provided by RefSeq, Oct 2009]
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taste trong>receptortrong>, type 2, member 39
The protetrong>introng> encoded by this gene is a bitter taste trong>receptortrong> that detects green tea catechtrong>introng>s, soy isoflavones, and theaflavtrong>introng>s. The encoded protetrong>introng> is gustductrong>introng>-ltrong>introng>ked and may activate alpha gustductrong>introng>. This gene is trong>introng>tronless. [provided by RefSeq, Dec 2015]
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olfactory trong>receptortrong>, family 4, subfamily A, member 6 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily A, member 25
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 161 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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transient trong>receptortrong> potential cation channel, subfamily C, member 2-like
Predicted to enable damaged DNA btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> strong>introng>gle strand break repair. Located trong>introng> chromosome and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
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protetrong>introng> tyrostrong>introng>e phosphatase, trong>receptortrong> type, R
The protetrong>introng> encoded by this gene is a member of the protetrong>introng> tyrostrong>introng>e phosphatase (PTP) family. PTPs are known to be signaltrong>introng>g molecules that regulate a variety of cellular processes trong>introng>cludtrong>introng>g cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a strong>introng>gle transmembrane region, and a strong>introng>gle trong>introng>tracellular catalytic domatrong>introng>, and thus represents a trong>receptortrong>-type PTP. Silenctrong>introng>g of this gene has been associated with colorectal cancer. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. This gene shares a symbol (PTPRQ) with another gene, protetrong>introng> tyrostrong>introng>e phosphatase, trong>receptortrong> type, Q (GeneID 374462), which is also located on chromosome 12. [provided by RefSeq, May 2011]
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poliovirus trong>receptortrong> related immunoglobultrong>introng> domatrong>introng> contatrong>introng>trong>introng>g
Enables phosphatase btrong>introng>dtrong>introng>g activity and signaltrong>introng>g trong>receptortrong> activity. trong>Introng>volved trong>introng> negative regulation of T cell trong>receptortrong> signaltrong>introng>g pathway. Located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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G protetrong>introng>-coupled trong>receptortrong> 143 pseudogene
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olfactory trong>receptortrong>, family 9, subfamily P, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily B, member 6 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily B, member 2 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily W, member 1 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily Y, member 1 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily W, member 1 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily W, member 1 pseudogene
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olfactory trong>receptortrong>, family 7, subfamily E, member 24 pseudogene
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olfactory trong>receptortrong>, family 7, subfamily E, member 24 pseudogene
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splA/ryanodtrong>introng>e trong>receptortrong> domatrong>introng> and SOCS box contatrong>introng>trong>introng>g 3
Enables ubiquittrong>introng>-like ligase-substrate adaptor activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g negative regulation of cGAS/STING signaltrong>introng>g pathway; negative regulation of epithelial to mesenchymal transition; and protetrong>introng> K48-ltrong>introng>ked ubiquittrong>introng>ation. Part of Cul5-RING ubiquittrong>introng> ligase complex. Is active trong>introng> nucleus. [provided by Alliance of Genome Resources, Mar 2025]
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splA/ryanodtrong>introng>e trong>receptortrong> domatrong>introng> and SOCS box contatrong>introng>trong>introng>g 2
This gene encodes a member of a subfamily of protetrong>introng>s contatrong>introng>trong>introng>g a central SPRY (repeats trong>introng> splA and RyR) domatrong>introng> and a C-termtrong>introng>al suppressor of cytoktrong>introng>e signaltrong>introng>g (SOCS) box. This protetrong>introng> plays a role trong>introng> cell signaltrong>introng>g. This gene is present trong>introng> a gene-rich cluster on chromosome 12p13 trong>introng> the victrong>introng>ity of the CD4 antigen and triosephosphate isomerase genes. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Feb 2016]
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splA/ryanodtrong>introng>e trong>receptortrong> domatrong>introng> and SOCS box contatrong>introng>trong>introng>g 1
Enables ubiquittrong>introng>-like ligase-substrate adaptor activity. trong>Introng>volved trong>introng> protetrong>introng> ubiquittrong>introng>ation and ubiquittrong>introng>-dependent protetrong>introng> catabolic process. Located trong>introng> cytosol. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong>, family 2, subfamily BH, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily A, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily A, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily A, member 5
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily A, member 4
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily A, member 7
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily BN, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 60 pseudogene
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olfactory trong>receptortrong>, family 51, subfamily J, member 1 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jan 2017]
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olfactory trong>receptortrong>, family 10, subfamily AD, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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G protetrong>introng>-coupled trong>receptortrong> 160
Predicted to enable G protetrong>introng>-coupled trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway. Located trong>introng> plasma membrane. Part of trong>receptortrong> complex. [provided by Alliance of Genome Resources, Mar 2025]
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G protetrong>introng>-coupled trong>receptortrong> 161
The protetrong>introng> encoded by this gene is an orphan G protetrong>introng>-coupled trong>receptortrong> whose ligand is unknown. This gene is overexpressed trong>introng> triple-negative breast cancer, and disruption of this gene slows the proliferation of basal breast cancer cells. Therefore, this gene is a potential drug target for triple-negative breast cancer. [provided by RefSeq, Mar 2017]
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olfactory trong>receptortrong> 7E24-like
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thyroid stimulattrong>introng>g hormone trong>receptortrong>-like 3
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thyroid stimulattrong>introng>g hormone trong>receptortrong>-like 2
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olfactory trong>receptortrong>, family 5, subfamily W, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily H, member 6 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jul 2015]
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olfactory trong>receptortrong>, family 5, subfamily H, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily H, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily H, member 8 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jan 2017]
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olfactory trong>receptortrong>, family 4, subfamily N, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a seven-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Mar 2014]
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olfactory trong>receptortrong>, family 4, subfamily N, member 4
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily N, member 5
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily AI, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 24 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily F, member 5 pseudogene
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olfactory trong>receptortrong>, family 8, subfamily A, member 1 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily A, member 15 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily A, member 16 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily A, member 45 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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trong>introng>terleuktrong>introng> 1 trong>receptortrong> accessory protetrong>introng>-like 1
The protetrong>introng> encoded by this gene is a member of the trong>introng>terleuktrong>introng> 1 trong>receptortrong> family and is similar to the trong>introng>terleuktrong>introng> 1 accessory protetrong>introng>s. This protetrong>introng> has an N-termtrong>introng>al signal peptide, three extracellular immunoglobultrong>introng> Ig-like domatrong>introng>s, a transmembrane domatrong>introng>, an trong>introng>tracellular Toll/IL-1R domatrong>introng>, and a long C-termtrong>introng>al tail which trong>introng>teracts with multiple signalltrong>introng>g molecules. This gene is located at a region on chromosome X that is associated with a non-syndromic form of X-ltrong>introng>ked trong>introng>tellectual disability. Deletions and mutations trong>introng> this gene were found trong>introng> patients with trong>introng>tellectual disability. This gene is expressed at a high level trong>introng> post-natal bratrong>introng> structures trong>introng>volved trong>introng> the hippocampal memory system, which suggests a specialized role trong>introng> the physiological processes underlytrong>introng>g memory and learntrong>introng>g abilities, and plays a role trong>introng> synapse formation and stabilization. [provided by RefSeq, Jul 2017]
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trong>introng>terleuktrong>introng> 1 trong>receptortrong> accessory protetrong>introng>-like 2
The protetrong>introng> encoded by this gene is a member of the trong>introng>terleuktrong>introng> 1 trong>receptortrong> family. This protetrong>introng> is similar to the trong>introng>terleuktrong>introng> 1 accessory protetrong>introng>s, and is most closely related to trong>introng>terleuktrong>introng> 1 trong>receptortrong> accessory protetrong>introng>-like 1 (IL1RAPL1). This gene and IL1RAPL1 are located at a region on chromosome X that is associated with X-ltrong>introng>ked non-syndromic cognitive disability. [provided by RefSeq, Jul 2008]
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trong>introng>terleuktrong>introng> 15 trong>receptortrong>, alpha
This gene encodes a cytoktrong>introng>e trong>receptortrong> that specifically btrong>introng>ds trong>introng>terleuktrong>introng> 15 (IL15) with high afftrong>introng>ity. The trong>receptortrong>s of IL15 and IL2 share two subunits, IL2R trong>betatrong> and IL2R gamma. This forms the basis of many overlapptrong>introng>g biological activities of IL15 and IL2. The protetrong>introng> encoded by this gene is structurally related to IL2R alpha, an additional IL2-specific alpha subunit necessary for high afftrong>introng>ity IL2 btrong>introng>dtrong>introng>g. Unlike IL2RA, IL15RA is capable of btrong>introng>dtrong>introng>g IL15 with high afftrong>introng>ity trong>introng>dependent of other subunits, which suggests disttrong>introng>ct roles between IL15 and IL2. This trong>receptortrong> is reported to enhance cell proliferation and expression of apoptosis trong>introng>hibitor BCL2L1/BCL2-XL and BCL2. Multiple alternatively spliced transcript variants of this gene have been reported.[provided by RefSeq, Apr 2010]
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olfactory trong>receptortrong>, family 2, subfamily T, member 3
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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TNF trong>receptortrong>-associated factor 7, E3 ubiquittrong>introng> protetrong>introng> ligase pseudogene
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prostaglandtrong>introng> F2 trong>receptortrong> trong>introng>hibitor
Predicted to be trong>introng>volved trong>introng> myoblast fusion trong>introng>volved trong>introng> skeletal muscle regeneration. Predicted to act upstream of or withtrong>introng> lipid droplet organization. Located trong>introng> cell surface. [provided by Alliance of Genome Resources, Mar 2025]
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vomeronasal 1 trong>receptortrong> 107 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily K, member 12 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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melatontrong>introng> trong>receptortrong> 1B
This gene encodes one of two high afftrong>introng>ity forms of a trong>receptortrong> for melatontrong>introng>, the primary hormone secreted by the ptrong>introng>eal gland. This gene product is an trong>introng>tegral membrane protetrong>introng> that is a G-protetrong>introng> coupled, 7-transmembrane trong>receptortrong>. It is found primarily trong>introng> the rettrong>introng>a and bratrong>introng> although this detection requires RT-PCR. It is thought to participate trong>introng> light-dependent functions trong>introng> the rettrong>introng>a and may be trong>introng>volved trong>introng> the neurobiological effects of melatontrong>introng>. [provided by RefSeq, Jul 2008]
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hepatitis A virus cellular trong>receptortrong> 1 pseudogene
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melatontrong>introng> trong>receptortrong> 1A
This gene encodes one of two high afftrong>introng>ity forms of a trong>receptortrong> for melatontrong>introng>, the primary hormone secreted by the ptrong>introng>eal gland. This trong>receptortrong> is a G-protetrong>introng> coupled, 7-transmembrane trong>receptortrong> that is responsible for melatontrong>introng> effects on mammalian circadian rhythm and reproductive alterations affected by day length. The trong>receptortrong> is an trong>introng>tegral membrane protetrong>introng> that is readily detectable and localized to two specific regions of the bratrong>introng>. The hypothalamic suprachiasmatic nucleus appears to be trong>introng>volved trong>introng> circadian rhythm while the hypophysial pars tuberalis may be responsible for the reproductive effects of melatontrong>introng>. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily B, member 10 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily G, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily L, member 6 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 1, subfamily F, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily E, member 2 pseudogene
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protetrong>introng> tyrostrong>introng>e phosphatase, trong>receptortrong> type, U
The protetrong>introng> encoded by this gene is a member of the protetrong>introng> tyrostrong>introng>e phosphatase (PTP) family. PTPs are known to be signaltrong>introng>g molecules that regulate a variety of cellular processes trong>introng>cludtrong>introng>g cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a strong>introng>gle transmembrane region, and two tandem trong>introng>tracellular catalytic domatrong>introng>s, and thus represents a trong>receptortrong>-type PTP. The extracellular region contatrong>introng>s a meprtrong>introng>-A5 antigen-PTP (MAM) domatrong>introng>, Ig-like and fibronecttrong>introng> type III-like repeats. This PTP was thought to play roles trong>introng> cell-cell recognition and adhesion. Studies of the similar gene trong>introng> mice suggested the role of this PTP trong>introng> early neural development. The expression of this gene was reported to be regulated by phorbol myristate acetate (PMA) or calcium ionophore trong>introng> Jurkat T lymphoma cells. Alternatively spliced transcript variants have been reported. [provided by RefSeq, Aug 2010]
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protetrong>introng> tyrostrong>introng>e phosphatase, trong>receptortrong> type, T
The protetrong>introng> encoded by this gene is a member of the protetrong>introng> tyrostrong>introng>e phosphatase (PTP) family. PTPs are known to be signaltrong>introng>g molecules that regulate a variety of cellular processes trong>introng>cludtrong>introng>g cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a strong>introng>gle transmembrane region, and two tandem trong>introng>tracellular catalytic domatrong>introng>s, and thus represents a trong>receptortrong>-type PTP. The extracellular region contatrong>introng>s a meprtrong>introng>-A5 antigen-PTP (MAM) domatrong>introng>, Ig-like and fibronecttrong>introng> type III-like repeats. The protetrong>introng> domatrong>introng> structure and the expression pattern of the mouse counterpart of this PTP suggest its roles trong>introng> both signal transduction and cellular adhesion trong>introng> the central nervous system. Two alternatively spliced transcript variants of this gene, which encode disttrong>introng>ct protetrong>introng>s, have been reported. [provided by RefSeq, Jul 2008]
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protetrong>introng> tyrostrong>introng>e phosphatase, trong>receptortrong> type, S
The protetrong>introng> encoded by this gene is a member of the protetrong>introng> tyrostrong>introng>e phosphatase (PTP) family. PTPs are known to be signaltrong>introng>g molecules that regulate a variety of cellular processes trong>introng>cludtrong>introng>g cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contatrong>introng>s an extracellular region, a strong>introng>gle transmembrane segment and two tandem trong>introng>tracytoplasmic catalytic domatrong>introng>s, and thus represents a trong>receptortrong>-type PTP. The extracellular region of this protetrong>introng> is composed of multiple Ig-like and fibronecttrong>introng> type III-like domatrong>introng>s. Studies of the similar gene trong>introng> mice suggested that this PTP may be trong>introng>volved trong>introng> cell-cell trong>introng>teraction, primary axonogenesis, and axon guidance durtrong>introng>g embryogenesis. This PTP has been also implicated trong>introng> the molecular control of adult nerve repair. Four alternatively spliced transcript variants, which encode disttrong>introng>ct protetrong>introng>s, have been reported. [provided by RefSeq, Jul 2008]
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protetrong>introng> tyrostrong>introng>e phosphatase, trong>receptortrong> type, Q
This locus encodes a member of the type III trong>receptortrong>-like protetrong>introng>-tyrostrong>introng>e phosphatase family. The encoded protetrong>introng> catalyzes the dephosphorylation of phosphotyrostrong>introng>e and phosphatidyltrong>introng>ositol and plays roles trong>introng> cellular proliferation and differentiation. Mutations at this locus have been ltrong>introng>ked to autosomal recessive deafness. [provided by RefSeq, Mar 2014]
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protetrong>introng> tyrostrong>introng>e phosphatase, trong>receptortrong> type, G
The protetrong>introng> encoded by this gene is a member of the protetrong>introng> tyrostrong>introng>e phosphatase (PTP) family. PTPs are known to be signaltrong>introng>g molecules that regulate a variety of cellular processes trong>introng>cludtrong>introng>g cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a strong>introng>gle transmembrane region, and two tandem trong>introng>tracytoplasmic catalytic domatrong>introng>s, and thus represents a trong>receptortrong>-type PTP. The extracellular region of this PTP contatrong>introng>s a carbonic anhydrase-like (CAH) domatrong>introng>, which is also found trong>introng> the extracellular region of PTPRBETA/ZETA. This gene is located trong>introng> a chromosomal region that is frequently deleted trong>introng> renal cell carctrong>introng>oma and lung carctrong>introng>oma, thus is thought to be a candidate tumor suppressor gene. [provided by RefSeq, Jul 2008]
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protetrong>introng> tyrostrong>introng>e phosphatase, trong>receptortrong> type, F
The protetrong>introng> encoded by this gene is a member of the protetrong>introng> tyrostrong>introng>e phosphatase (PTP) family. PTPs are known to be signaltrong>introng>g molecules that regulate a variety of cellular processes trong>introng>cludtrong>introng>g cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a strong>introng>gle transmembrane region, and two tandem trong>introng>tracytoplasmic catalytic domatrong>introng>s, and thus represents a trong>receptortrong>-type PTP. The extracellular region contatrong>introng>s three Ig-like domatrong>introng>s, and ntrong>introng>e non-Ig like domatrong>introng>s similar to that of neural-cell adhesion molecule. This PTP was shown to function trong>introng> the regulation of epithelial cell-cell contacts at adherents junctions, as well as trong>introng> the control of trong>betatrong>-catentrong>introng> signaltrong>introng>g. An trong>introng>creased expression level of this protetrong>introng> was found trong>introng> the trong>introng>sultrong>introng>-responsive tissue of obese, trong>introng>sultrong>introng>-resistant trong>introng>dividuals, and may contribute to the pathogenesis of trong>introng>sultrong>introng> resistance. Two alternatively spliced transcript variants of this gene, which encode disttrong>introng>ct protetrong>introng>s, have been reported. [provided by RefSeq, Jul 2008]
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protetrong>introng> tyrostrong>introng>e phosphatase, trong>receptortrong> type, E
The protetrong>introng> encoded by this gene is a member of the protetrong>introng> tyrostrong>introng>e phosphatase (PTP) family. PTPs are known to be signaltrong>introng>g molecules that regulate a variety of cellular processes trong>introng>cludtrong>introng>g cell growth, differentiation, mitotic cycle, and oncogenic transformation. Several alternatively spliced transcript variants of this gene have been reported, at least two of which encode a trong>receptortrong>-type PTP that possesses a short extracellular domatrong>introng>, a strong>introng>gle transmembrane region, and two tandem trong>introng>tracytoplasmic catalytic domatrong>introng>s; another one encodes a PTP that contatrong>introng>s a disttrong>introng>ct hydrophilic N-termtrong>introng>us, and thus represents a nontrong>receptortrong>-type isoform of this PTP. Studies of the similar gene trong>introng> mice suggested the regulatory roles of this PTP trong>introng> RAS related signal transduction pathways, cytoktrong>introng>e-trong>introng>duced SATA signaltrong>introng>g, as well as the activation of voltage-gated K+ channels. [provided by RefSeq, Oct 2015]
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protetrong>introng> tyrostrong>introng>e phosphatase, trong>receptortrong> type, D
The protetrong>introng> encoded by this gene is a member of the protetrong>introng> tyrostrong>introng>e phosphatase (PTP) family. PTPs are known to be signaltrong>introng>g molecules that regulate a variety of cellular processes trong>introng>cludtrong>introng>g cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contatrong>introng>s an extracellular region, a strong>introng>gle transmembrane segment and two tandem trong>introng>tracytoplasmic catalytic domatrong>introng>s, and thus represents a trong>receptortrong>-type PTP. The extracellular region of this protetrong>introng> is composed of three Ig-like and eight fibronecttrong>introng> type III-like domatrong>introng>s. Studies of the similar genes trong>introng> chicken and fly suggest the role of this PTP is trong>introng> promottrong>introng>g neurite growth, and regulattrong>introng>g neurons axon guidance. Multiple alternatively spliced transcript variants of this gene have been reported. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Jan 2010]
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protetrong>introng> tyrostrong>introng>e phosphatase, trong>receptortrong> type, C
The protetrong>introng> encoded by this gene is a member of the protetrong>introng> tyrostrong>introng>e phosphatase (PTP) family. PTPs are known to be signaltrong>introng>g molecules that regulate a variety of cellular processes trong>introng>cludtrong>introng>g cell growth, differentiation, mitosis, and oncogenic transformation. This PTP contatrong>introng>s an extracellular domatrong>introng>, a strong>introng>gle transmembrane segment and two tandem trong>introng>tracytoplasmic catalytic domatrong>introng>s, and thus is classified as a trong>receptortrong> type PTP. This PTP has been shown to be an essential regulator of T- and B-cell antigen trong>receptortrong> signaltrong>introng>g. It functions through either direct trong>introng>teraction with components of the antigen trong>receptortrong> complexes, or by activattrong>introng>g various Src family ktrong>introng>ases required for the antigen trong>receptortrong> signaltrong>introng>g. This PTP also suppresses JAK ktrong>introng>ases, and thus functions as a regulator of cytoktrong>introng>e trong>receptortrong> signaltrong>introng>g. Alternatively spliced transcripts variants of this gene, which encode disttrong>introng>ct isoforms, have been reported. [provided by RefSeq, Jun 2012]
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protetrong>introng> tyrostrong>introng>e phosphatase, trong>receptortrong> type, B
The protetrong>introng> encoded by this gene is a member of the protetrong>introng> tyrostrong>introng>e phosphatase (PTP) family. PTPs are known to be signaltrong>introng>g molecules that regulate a variety of cellular processes trong>introng>cludtrong>introng>g cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contatrong>introng>s an extracellular domatrong>introng>, a strong>introng>gle transmembrane segment and one trong>introng>tracytoplasmic catalytic domatrong>introng>, thus belongs to trong>receptortrong> type PTP. The extracellular region of this PTP is composed of multiple fibronecttrong>introng> type_III repeats, which was shown to trong>introng>teract with neuronal trong>receptortrong> and cell adhesion molecules, such as contacttrong>introng> and tenasctrong>introng> C. This protetrong>introng> was also found to trong>introng>teract with sodium channels, and thus may regulate sodium channels by altertrong>introng>g tyrostrong>introng>e phosphorylation status. The functions of the trong>introng>teraction partners of this protetrong>introng> implicate the roles of this PTP trong>introng> cell adhesion, neurite growth, and neuronal differentiation. Alternate transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, May 2011]
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protetrong>introng> tyrostrong>introng>e phosphatase, trong>receptortrong> type, A
The protetrong>introng> encoded by this gene is a member of the protetrong>introng> tyrostrong>introng>e phosphatase (PTP) family. PTPs are known to be signaltrong>introng>g molecules that regulate a variety of cellular processes trong>introng>cludtrong>introng>g cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contatrong>introng>s an extracellular domatrong>introng>, a strong>introng>gle transmembrane segment and two tandem trong>introng>tracytoplasmic catalytic domatrong>introng>s, and thus represents a trong>receptortrong>-type PTP. This PTP has been shown to dephosphorylate and activate Src family tyrostrong>introng>e ktrong>introng>ases, and is implicated trong>introng> the regulation of trong>introng>tegrtrong>introng> signaltrong>introng>g, cell adhesion and proliferation. Three alternatively spliced variants of this gene, which encode two disttrong>introng>ct isoforms, have been reported. [provided by RefSeq, Jul 2008]
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protetrong>introng> tyrostrong>introng>e phosphatase, trong>receptortrong> type, O
This gene encodes a member of the R3 subtype family of trong>receptortrong>-type protetrong>introng> tyrostrong>introng>e phosphatases. These protetrong>introng>s are localized to the apical surface of polarized cells and may have tissue-specific functions through activation of Src family ktrong>introng>ases. This gene contatrong>introng>s two disttrong>introng>ct promoters, and alternatively spliced transcript variants encodtrong>introng>g multiple isoforms have been observed. The encoded protetrong>introng>s may have multiple isoform-specific and tissue-specific functions, trong>introng>cludtrong>introng>g the regulation of osteoclast production and activity, trong>introng>hibition of cell proliferation and facilitation of apoptosis. This gene is a candidate tumor suppressor, and decreased expression of this gene has been observed trong>introng> several types of cancer. [provided by RefSeq, May 2011]
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protetrong>introng> tyrostrong>introng>e phosphatase, trong>receptortrong> type, N
The protetrong>introng> encoded by this gene is a member of the protetrong>introng> tyrostrong>introng>e phosphatase (PTP) family. PTPs are known to be signaltrong>introng>g molecules that regulate a variety of cellular processes trong>introng>cludtrong>introng>g cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a strong>introng>gle transmembrane region, and a strong>introng>gle catalytic domatrong>introng>, and thus represents a trong>receptortrong>-type PTP. This PTP was found to be an autoantigen that is reactive with trong>introng>sultrong>introng>-dependent diabetes mellitus (IDDM) patient sera, and thus may be a potential target of autoimmunity trong>introng> diabetes mellitus. Alternate splictrong>introng>g results trong>introng> multiple transcript variants.[provided by RefSeq, Dec 2010]
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protetrong>introng> tyrostrong>introng>e phosphatase, trong>receptortrong> type, M
The protetrong>introng> encoded by this gene is a member of the protetrong>introng> tyrostrong>introng>e phosphatase (PTP) family. PTPs are known to be signaltrong>introng>g molecules that regulate a variety of cellular processes trong>introng>cludtrong>introng>g cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a strong>introng>gle transmembrane region, and two tandem catalytic domatrong>introng>s, and thus represents a trong>receptortrong>-type PTP. The extracellular region contatrong>introng>s a meprtrong>introng>-A5 antigen-PTP mu (MAM) domatrong>introng>, an Ig-like domatrong>introng> and four fibronecttrong>introng> type III-like repeats. This PTP has been shown to mediate cell-cell aggregation through the trong>introng>teraction with another molecule of this PTP on an adjacent cell. This PTP can trong>introng>teract with scaffoldtrong>introng>g protetrong>introng> RACK1/GNB2L1, which may be necessary for the downstream signaltrong>introng>g trong>introng> response to cell-cell adhesion. Alternative splictrong>introng>g results trong>introng> multiple transcripts encodtrong>introng>g disttrong>introng>ct isoforms. [provided by RefSeq, Jul 2008]
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protetrong>introng> tyrostrong>introng>e phosphatase, trong>receptortrong> type, K
The protetrong>introng> encoded by this gene is a member of the protetrong>introng> tyrostrong>introng>e phosphatase (PTP) family. PTPs are known to be signaltrong>introng>g molecules that regulate a variety of cellular processes trong>introng>cludtrong>introng>g cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a strong>introng>gle transmembrane region, and two tandem catalytic domatrong>introng>s, and thus represents a trong>receptortrong>-type PTP. The extracellular region contatrong>introng>s a meprtrong>introng>-A5 antigen-PTP mu (MAM) domatrong>introng>, an Ig-like domatrong>introng> and four fibronecttrong>introng> type III-like repeats. This PTP was shown to mediate homophilic trong>introng>tercellular trong>introng>teraction, possibly through the trong>introng>teraction with trong>betatrong>- and gamma-catentrong>introng> at adherens junctions. Expression of this gene was found to be stimulated by TGF-trong>betatrong> 1, which may be important for the trong>introng>hibition of kerattrong>introng>ocyte proliferation. [provided by RefSeq, Jul 2008]
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protetrong>introng> tyrostrong>introng>e phosphatase, trong>receptortrong> type, J
The protetrong>introng> encoded by this gene is a member of the protetrong>introng> tyrostrong>introng>e phosphatase (PTP) family. PTPs are known to be signaltrong>introng>g molecules that regulate a variety of cellular processes, trong>introng>cludtrong>introng>g cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region contatrong>introng>trong>introng>g five fibronecttrong>introng> type III repeats, a strong>introng>gle transmembrane region, and a strong>introng>gle trong>introng>tracytoplasmic catalytic domatrong>introng>, and thus represents a trong>receptortrong>-type PTP. This protetrong>introng> is present trong>introng> all hematopoietic ltrong>introng>eages, and was shown to negatively regulate T cell trong>receptortrong> signaltrong>introng>g possibly through trong>introng>terfertrong>introng>g with the phosphorylation of Phospholipase C Gamma 1 and Ltrong>introng>ker for Activation of T Cells. This protetrong>introng> can also dephosphorylate the PDGF trong>betatrong> trong>receptortrong>, and may be trong>introng>volved trong>introng> UV-trong>introng>duced signal transduction. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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protetrong>introng> tyrostrong>introng>e phosphatase, trong>receptortrong> type, H
The protetrong>introng> encoded by this gene is a member of the protetrong>introng> tyrostrong>introng>e phosphatase (PTP) family. PTPs are known to be signaltrong>introng>g molecules that regulate a variety of cellular processes trong>introng>cludtrong>introng>g cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a strong>introng>gle transmembrane region, and a strong>introng>gle trong>introng>tracytoplasmic catalytic domatrong>introng>, and thus represents a trong>receptortrong>-type PTP. The extracellular region contatrong>introng>s eight fibronecttrong>introng> type III-like repeats and multiple N-glycosylation sites. The gene was shown to be expressed primarily trong>introng> bratrong>introng> and liver, and at a lower level trong>introng> heart and stomach. It was also found to be expressed trong>introng> several cancer cell ltrong>introng>es, but not trong>introng> the correspondtrong>introng>g normal tissues. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jun 2009]
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hepatitis A virus cellular trong>receptortrong> 1 pseudogene 1
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olfactory trong>receptortrong>, family 10, subfamily R, member 3 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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prostaglandtrong>introng> D2 trong>receptortrong> 2
This gene encodes a G-protetrong>introng>-coupled trong>receptortrong> that is preferentially expressed trong>introng> CD4+ effector T helper 2 (Th2) cells. This protetrong>introng> is a prostaglandtrong>introng> D2 trong>receptortrong> that mediates the pro-trong>introng>flammatory chemotaxis of eostrong>introng>ophils, basophils, and Th2 lymphocytes generated durtrong>introng>g allergic trong>introng>flammation. Strong>introng>gle nucleotide polymorphisms trong>introng> the 3' UTR of this gene have been associated with asthma susceptibility.[provided by RefSeq, Mar 2011]
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transient trong>receptortrong> potential cation channel, subfamily C, member 6 pseudogene
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fibroblast growth factor trong>receptortrong>-like 1
The protetrong>introng> encoded by this gene is a member of the fibroblast growth factor trong>receptortrong> (FGFR) family, where amtrong>introng>o acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another trong>introng> their ligand afftrong>introng>ities and tissue distribution. A full-length representative protetrong>introng> would consist of an extracellular region, composed of three immunoglobultrong>introng>-like domatrong>introng>s, a strong>introng>gle hydrophobic membrane-spanntrong>introng>g segment and a cytoplasmic tyrostrong>introng>e ktrong>introng>ase domatrong>introng>. The extracellular portion of the protetrong>introng> trong>introng>teracts with fibroblast growth factors, setttrong>introng>g trong>introng> motion a cascade of downstream signals, ultimately trong>introng>fluenctrong>introng>g mitogenesis and differentiation. A marked difference between this gene product and the other family members is its lack of a cytoplasmic tyrostrong>introng>e ktrong>introng>ase domatrong>introng>. The result is a transmembrane trong>receptortrong> that could trong>introng>teract with other family members and potentially trong>introng>hibit signaltrong>introng>g. Multiple alternatively spliced transcript variants encodtrong>introng>g the same isoform have been found for this gene. [provided by RefSeq, Jul 2008]
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cytoktrong>introng>e trong>receptortrong>-like factor 2
This gene encodes a member of the type I cytoktrong>introng>e trong>receptortrong> family. The encoded protetrong>introng> is a trong>receptortrong> for thymic stromal lymphopoiettrong>introng> (TSLP). Together with the trong>introng>terleuktrong>introng> 7 trong>receptortrong> (IL7R), the encoded protetrong>introng> and TSLP activate STAT3, STAT5, and JAK2 pathways, which control processes such as cell proliferation and development of the hematopoietic system. Rearrangement of this gene with immunoglobultrong>introng> heavy trong>chatrong>introng>trong> gene (IGH) on chromosome 14, or with P2Y purtrong>introng>oceptor 8 gene (P2RY8) on the same X or Y chromosomes is associated with B-progenitor acute lymphoblastic leukemia (ALL) and Down syndrome ALL. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
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cytoktrong>introng>e trong>receptortrong>-like factor 3
This gene encodes a cytoktrong>introng>e trong>receptortrong>-like factor that may negatively regulate cell cycle progression at the G0/G1 phase. Studies of the related rat protetrong>introng> suggest that it may regulate neuronal morphology and synaptic vesicle biogenesis. This gene is one of several genes located trong>introng> the neurofibromatosis type I tumor suppressor region on the q arm of chromosome 17, a region that is subject to microdeletions, duplications, chromosomal breaks and rearrangements. Alternative splictrong>introng>g of this gene results trong>introng> multiple transcript variants. Related pseudogenes have been identified on chromosomes 2 and 5. [provided by RefSeq, Aug 2012]
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cytoktrong>introng>e trong>receptortrong>-like factor 1
This gene encodes a member of the cytoktrong>introng>e type I trong>receptortrong> family. The protetrong>introng> forms a secreted complex with cardiotrophtrong>introng>-like cytoktrong>introng>e factor 1 and acts on cells expresstrong>introng>g ciliary neurotrophic factor trong>receptortrong>s. The complex can promote survival of neuronal cells. Mutations trong>introng> this gene result trong>introng> Crisponi syndrome and cold-trong>introng>duced sweattrong>introng>g syndrome. [provided by RefSeq, Oct 2009]
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olfactory trong>receptortrong>, family 7, subfamily E, member 86 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 11, subfamily M, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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ectodysplastrong>introng> A trong>receptortrong>
This gene encodes a member of the tumor necrosis factor trong>receptortrong> family. The encoded transmembrane protetrong>introng> is a trong>receptortrong> for the soluble ligand ectodysplastrong>introng> A, and can activate the nuclear factor-kappaB, JNK, and caspase-trong>introng>dependent cell death pathways. It is required for the development of hair, teeth, and other ectodermal derivatives. Mutations trong>introng> this gene result trong>introng> autosomal domtrong>introng>ant and recessive forms of hypohidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]
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tumor necrosis factor trong>receptortrong> superfamily, member 17
The protetrong>introng> encoded by this gene is a member of the TNF-trong>receptortrong> superfamily. This trong>receptortrong> is preferentially expressed trong>introng> mature B lymphocytes, and may be important for B cell development and autoimmune response. This trong>receptortrong> has been shown to specifically btrong>introng>d to the tumor necrosis factor (ligand) superfamily, member 13b (TNFSF13B/TALL-1/BAFF), and to lead to NF-kappaB and MAPK8/JNK activation. This trong>receptortrong> also btrong>introng>ds to various TRAF family members, and thus may transduce signals for cell survival and proliferation. [provided by RefSeq, Jul 2008]
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tumor necrosis factor trong>receptortrong> superfamily, member 14
This gene encodes a member of the TNF (tumor necrosis factor) trong>receptortrong> superfamily. The encoded protetrong>introng> functions trong>introng> signal transduction pathways that activate trong>introng>flammatory and trong>introng>hibitory T-cell immune response. It btrong>introng>ds herpes simplex virus (HSV) viral envelope glycoprotetrong>introng> D (gD), mediattrong>introng>g its entry trong>introng>to cells. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jul 2014]
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tumor necrosis factor trong>receptortrong> superfamily, member 18
This gene encodes a member of the TNF-trong>receptortrong> superfamily. The encoded trong>receptortrong> has been shown to have trong>introng>creased expression upon T-cell activation, and it is thought to play a key role trong>introng> domtrong>introng>ant immunological self-tolerance matrong>introng>tatrong>introng>ed by CD25(+)CD4(+) regulatory T cells. Knockout studies trong>introng> mice also suggest the role of this trong>receptortrong> is trong>introng> the regulation of CD3-driven T-cell activation and programmed cell death. Three alternatively spliced transcript variants of this gene encodtrong>introng>g disttrong>introng>ct isoforms have been reported. [provided by RefSeq, Feb 2011]
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tumor necrosis factor trong>receptortrong> superfamily, member 19
The protetrong>introng> encoded by this gene is a member of the TNF-trong>receptortrong> superfamily. This trong>receptortrong> is highly expressed durtrong>introng>g embryonic development. It has been shown to trong>introng>teract with TRAF family members, and to activate JNK signaltrong>introng>g pathway when overexpressed trong>introng> cells. This trong>receptortrong> is capable of trong>introng>ductrong>introng>g apoptosis by a caspase-trong>introng>dependent mechanism, and it is thought to play an essential role trong>introng> embryonic development. Alternatively spliced transcript variants encodtrong>introng>g disttrong>introng>ct isoforms have been described. [provided by RefSeq, Jul 2008]
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tumor necrosis factor trong>receptortrong> superfamily, member 1B
The protetrong>introng> encoded by this gene is a member of the TNF-trong>receptortrong> superfamily. This protetrong>introng> and TNF-trong>receptortrong> 1 form a heterocomplex that mediates the recruitment of two anti-apoptotic protetrong>introng>s, c-IAP1 and c-IAP2, which possess E3 ubiquittrong>introng> ligase activity. The function of IAPs trong>introng> TNF-trong>receptortrong> signalltrong>introng>g is unknown, however, c-IAP1 is thought to potentiate TNF-trong>introng>duced apoptosis by the ubiquittrong>introng>ation and degradation of TNF-trong>receptortrong>-associated factor 2, which mediates anti-apoptotic signals. Knockout studies trong>introng> mice also suggest a role of this protetrong>introng> trong>introng> protecttrong>introng>g neurons from apoptosis by stimulattrong>introng>g antioxidative pathways. [provided by RefSeq, Jul 2008]
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tumor necrosis factor trong>receptortrong> superfamily, member 1A
This gene encodes a member of the TNF trong>receptortrong> superfamily of protetrong>introng>s. The encoded trong>receptortrong> is found trong>introng> membrane-bound and soluble forms that trong>introng>teract with membrane-bound and soluble forms, respectively, of its ligand, tumor necrosis factor alpha. Btrong>introng>dtrong>introng>g of membrane-bound tumor necrosis factor alpha to the membrane-bound trong>receptortrong> trong>introng>duces trong>receptortrong> trimerization and activation, which plays a role trong>introng> cell survival, apoptosis, and trong>introng>flammation. Proteolytic processtrong>introng>g of the encoded trong>receptortrong> results trong>introng> release of the soluble form of the trong>receptortrong>, which can trong>introng>teract with free tumor necrosis factor alpha to trong>introng>hibit trong>introng>flammation. Mutations trong>introng> this gene underlie tumor necrosis factor trong>receptortrong>-associated periodic syndrome (TRAPS), characterized by fever, abdomtrong>introng>al patrong>introng> and other features. Mutations trong>introng> this gene may also be associated with multiple sclerosis trong>introng> human patients. [provided by RefSeq, Sep 2016]
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vomeronasal 2 trong>receptortrong> 2 pseudogene
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G protetrong>introng>-coupled trong>receptortrong> 53, pseudogene
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olfactory trong>receptortrong>, family 2, subfamily T, member 32 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily A, member 2 pseudogene
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chemoktrong>introng>e (C-C motif) trong>receptortrong> 6
This gene encodes a member of the trong>betatrong> chemoktrong>introng>e trong>receptortrong> family, which is predicted to be a seven transmembrane protetrong>introng> similar to G protetrong>introng>-coupled trong>receptortrong>s. The gene is preferentially expressed by immature dendritic cells and memory T cells. The ligand of this trong>receptortrong> is macrophage trong>introng>flammatory protetrong>introng> 3 alpha (MIP-3 alpha). This trong>receptortrong> has been shown to be important for B-ltrong>introng>eage maturation and antigen-driven B-cell differentiation, and it may regulate the migration and recruitment of dentritic and T cells durtrong>introng>g trong>introng>flammatory and immunological responses. Alternatively spliced transcript variants that encode the same protetrong>introng> have been described for this gene. [provided by RefSeq, Jul 2008]
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MAS1 proto-oncogene like, G protetrong>introng>-coupled trong>receptortrong> pseudogene
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MAS1 proto-oncogene like, G protetrong>introng>-coupled trong>receptortrong> pseudogene
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MAS1 proto-oncogene like, G protetrong>introng>-coupled trong>receptortrong> pseudogene
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olfactory trong>receptortrong>, family 7, subfamily C, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily C, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 80 pseudogene
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vomeronasal 1 trong>receptortrong> 11 pseudogene
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olfactory trong>receptortrong>, family 6, subfamily C, member 3
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 6, subfamily C, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 6, subfamily C, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 6, subfamily C, member 6
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 6, subfamily C, member 4
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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growth hormone secretagogue trong>receptortrong>
This gene encodes a member of the G-protetrong>introng> coupled trong>receptortrong> family. The encoded protetrong>introng> may play a role trong>introng> energy homeostasis and regulation of body weight. Two identified transcript variants are expressed trong>introng> several tissues and are evolutionary conserved trong>introng> fish and swtrong>introng>e. One transcript, 1a, excises an trong>introng>tron and encodes the functional protetrong>introng>; this protetrong>introng> is the trong>receptortrong> for the Ghreltrong>introng> ligand and deftrong>introng>es a neuroendocrtrong>introng>e pathway for growth hormone release. The second transcript (1b) retatrong>introng>s the trong>introng>tron and does not function as a trong>receptortrong> for Ghreltrong>introng>; however, it may function to attenuate activity of isoform 1a. Mutations trong>introng> this gene are associated with autosomal idiopathic short stature.[provided by RefSeq, Apr 2010]
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olfactory trong>receptortrong>, family 7, subfamily E, member 13 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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low density lipoprotetrong>introng> trong>receptortrong>-related protetrong>introng> 1B
This gene encodes a member of the low density lipoprotetrong>introng> (LDL) trong>receptortrong> family. These trong>receptortrong>s play a wide variety of roles trong>introng> normal cell function and development due to their trong>introng>teractions with multiple ligands. Disruption of this gene has been reported trong>introng> several types of cancer. [provided by RefSeq, Jun 2016]
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low density lipoprotetrong>introng> trong>receptortrong>-related protetrong>introng> 10
This gene encodes a low density lipoprotetrong>introng> trong>receptortrong> family protetrong>introng>. A similar protetrong>introng> trong>introng> mouse is thought to play a role trong>introng> the uptake of apolipoprotetrong>introng> E-contatrong>introng>trong>introng>g lipoprotetrong>introng>s. [provided by RefSeq, Jul 2016]
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low density lipoprotetrong>introng> trong>receptortrong>-related protetrong>introng> 11
Enables phosphoprotetrong>introng> btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g response to cold; response to immobilization stress; and response to water deprivation. Predicted to be located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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low density lipoprotetrong>introng> trong>receptortrong>-related protetrong>introng> 12
This gene encodes a member of the low-density lipoprotetrong>introng> trong>receptortrong> related protetrong>introng> family. The product of this gene is a transmembrane protetrong>introng> that is differentially expressed trong>introng> many cancer cells. Alternate splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Feb 2010]
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olfactory trong>receptortrong>, family 7, subfamily E, member 28 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily Y, member 1 pseudogene
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epidermal growth factor trong>receptortrong> pathway substrate 15 pseudogene 1
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G protetrong>introng>-coupled trong>receptortrong> 160 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily J, member 1 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jan 2017]
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thyroid hormone trong>receptortrong> trong>introng>teractor 4 pseudogene
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olfactory trong>receptortrong>, family 10, subfamily V, member 7 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily A, member 3 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong> 4S2-like
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CD40 molecule, TNF trong>receptortrong> superfamily member 5
This gene is a member of the TNF-trong>receptortrong> superfamily. The encoded protetrong>introng> is a trong>receptortrong> on antigen-presenttrong>introng>g cells of the immune system and is essential for mediattrong>introng>g a broad variety of immune and trong>introng>flammatory responses trong>introng>cludtrong>introng>g T cell-dependent immunoglobultrong>introng> class switchtrong>introng>g, memory B cell development, and germtrong>introng>al center formation. AT-hook transcription factor AKNA is reported to coordtrong>introng>ately regulate the expression of this trong>receptortrong> and its ligand, which may be important for homotypic cell trong>introng>teractions. Adaptor protetrong>introng> TNFR2 trong>introng>teracts with this trong>receptortrong> and serves as a mediator of the signal transduction. The trong>introng>teraction of this trong>receptortrong> and its ligand is found to be necessary for amyloid-trong>betatrong>-trong>introng>duced microglial activation, and thus is thought to be an early event trong>introng> Alzheimer disease pathogenesis. Mutations affecttrong>introng>g this gene are the cause of autosomal recessive hyper-IgM immunodeficiency type 3 (HIGM3). Multiple alternatively spliced transcript variants of this gene encodtrong>introng>g disttrong>introng>ct isoforms have been reported. [provided by RefSeq, Nov 2014]
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proltrong>introng>e-rich trong>receptortrong>-like protetrong>introng> ktrong>introng>ase PERK2
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trong>introng>terleuktrong>introng> 31 trong>receptortrong> A
The protetrong>introng> encoded by this gene belongs to the type I cytoktrong>introng>e trong>receptortrong> family. This trong>receptortrong>, with homology to gp130, is expressed on monocytes, and is trong>introng>volved trong>introng> IL-31 signaltrong>introng>g via activation of STAT-3 and STAT-5. It functions either as a monomer, or as part of a trong>receptortrong> complex with oncostattrong>introng> M trong>receptortrong> (OSMR). Several alternatively spliced transcript variants encodtrong>introng>g different isoforms have been noted for this gene.[provided by RefSeq, Jun 2011]
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olfactory trong>receptortrong>, family 5, subfamily D, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 8, subfamily D, member 4
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 8, subfamily D, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 8, subfamily D, member 2 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jun 2015]
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olfactory trong>receptortrong>, family 4, subfamily A, member 16 pseudogene
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olfactory trong>receptortrong>, family 56, subfamily B, member 4 pseudogene
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olfactory trong>receptortrong>, family 52, subfamily N, member 2 pseudogene
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olfactory trong>receptortrong>, family 52, subfamily E, member 4 pseudogene
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5-hydroxytryptamtrong>introng>e (serotontrong>introng>) trong>receptortrong> 5B, pseudogene
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macrophage mannose trong>receptortrong> 1-like
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olfactory trong>receptortrong>, family 2, subfamily Y, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 130 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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Fc fragment of IgG, low afftrong>introng>ity IIb, trong>receptortrong> (CD32)
The protetrong>introng> encoded by this gene is a low afftrong>introng>ity trong>receptortrong> for the Fc region of immunoglobultrong>introng> gamma complexes. The encoded protetrong>introng> is trong>introng>volved trong>introng> the phagocytosis of immune complexes and trong>introng> the regulation of antibody production by B-cells. Variations trong>introng> this gene may trong>introng>crease susceptibilty to systemic lupus erythematosus (SLE). Several transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
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Fc fragment of IgG, low afftrong>introng>ity IIc, trong>receptortrong> for (CD32) (gene/pseudogene)
This gene encodes one of three members of a family of low-afftrong>introng>ity immunoglobultrong>introng> gamma Fc trong>receptortrong>s found on the surface of many immune response cells. The encoded protetrong>introng> is a transmembrane glycoprotetrong>introng> and may be trong>introng>volved trong>introng> phagocytosis and cleartrong>introng>g of immune complexes. An allelic polymorphism trong>introng> this gene results trong>introng> both codtrong>introng>g and non-codtrong>introng>g variants. [provided by RefSeq, Apr 2012]
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Fc fragment of IgG, low afftrong>introng>ity IIa, trong>receptortrong> (CD32)
This gene encodes one member of a family of immunoglobultrong>introng> Fc trong>receptortrong> genes found on the surface of many immune response cells. The protetrong>introng> encoded by this gene is a cell surface trong>receptortrong> found on phagocytic cells such as macrophages and neutrophils, and is trong>introng>volved trong>introng> the process of phagocytosis and cleartrong>introng>g of immune complexes. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Oct 2008]
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calcitontrong>introng> trong>receptortrong>
This gene encodes a high afftrong>introng>ity trong>receptortrong> for the peptide hormone calcitontrong>introng> and belongs to a subfamily of seven transmembrane-spanntrong>introng>g G protetrong>introng>-coupled trong>receptortrong>s. The encoded protetrong>introng> is trong>introng>volved trong>introng> matrong>introng>tatrong>introng>trong>introng>g calcium homeostasis and trong>introng> regulattrong>introng>g osteoclast-mediated bone resorption. Polymorphisms trong>introng> this gene have been associated with variations trong>introng> bone mtrong>introng>eral density and onset of osteoporosis. Alternate splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Sep 2009]
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vomeronasal 1 trong>receptortrong> 35 pseudogene
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olfactory trong>receptortrong>, family 5, subfamily BM, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 51, subfamily B, member 5
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 51, subfamily B, member 4
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 51, subfamily B, member 6
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 51, subfamily B, member 2 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jun 2015]
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vomeronasal 1 trong>receptortrong> 68 pseudogene
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Fc fragment of IgE, low afftrong>introng>ity II, trong>receptortrong> for (CD23)
The protetrong>introng> encoded by this gene is a B-cell specific antigen, and a low-afftrong>introng>ity trong>receptortrong> for IgE. It has essential roles trong>introng> B cell growth and differentiation, and the regulation of IgE production. This protetrong>introng> also exists as a soluble secreted form, then functiontrong>introng>g as a potent mitogenic growth factor. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]
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MAS1 proto-oncogene like, G protetrong>introng>-coupled trong>receptortrong> pseudogene
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olfactory trong>receptortrong>, family 52, subfamily D, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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anti-Mullerian hormone trong>receptortrong>, type II
This gene encodes the trong>receptortrong> for the anti-Mullerian hormone (AMH) which, trong>introng> addition to testosterone, results trong>introng> male sex differentiation. AMH and testosterone are produced trong>introng> the testes by different cells and have different effects. Testosterone promotes the development of male genitalia while the btrong>introng>dtrong>introng>g of AMH to the encoded trong>receptortrong> prevents the development of the mullerian ducts trong>introng>to uterus and Fallopian tubes. Mutations trong>introng> this gene are associated with persistent Mullerian duct syndrome type II. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been identified. [provided by RefSeq, Sep 2009]
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nuclear trong>receptortrong> subfamily 1, group I, member 3
This gene encodes a member of the nuclear trong>receptortrong> superfamily, and is a key regulator of xenobiotic and endobiotic metabolism. The protetrong>introng> btrong>introng>ds to DNA as a monomer or a heterodimer with the rettrong>introng>oid X trong>receptortrong> and regulates the transcription of target genes trong>introng>volved trong>introng> drug metabolism and bilirubtrong>introng> clearance, such as cytochrome P450 family members. Unlike most nuclear trong>receptortrong>s, this transcriptional regulator is constitutively active trong>introng> the absence of ligand but is regulated by both agonists and trong>introng>verse agonists. Ligand btrong>introng>dtrong>introng>g results trong>introng> translocation of this protetrong>introng> to the nucleus, where it activates or represses target gene transcription. These ligands trong>introng>clude bilirubtrong>introng>, a variety of foreign compounds, steroid hormones, and prescription drugs. trong>Introng> addition to drug metabolism, the CAR protetrong>introng> is also reported to regulate genes trong>introng>volved trong>introng> glucose metabolism, lipid metabolism, cell proliferation, and circadian clock regulation. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jul 2020]
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nuclear trong>receptortrong> subfamily 1, group I, member 2
This gene product belongs to the nuclear trong>receptortrong> superfamily, members of which are transcription factors characterized by a ligand-btrong>introng>dtrong>introng>g domatrong>introng> and a DNA-btrong>introng>dtrong>introng>g domatrong>introng>. The encoded protetrong>introng> is a transcriptional regulator of the cytochrome P450 gene CYP3A4, btrong>introng>dtrong>introng>g to the response element of the CYP3A4 promoter as a heterodimer with the 9-cis rettrong>introng>oic acid trong>receptortrong> RXR. It is activated by a range of compounds that trong>introng>duce CYP3A4, trong>introng>cludtrong>introng>g dexamethasone and rifampictrong>introng>. Several alternatively spliced transcripts encodtrong>introng>g different isoforms, some of which use non-AUG (CUG) translation trong>introng>itiation codon, have been described for this gene. Additional transcript variants exist, however, they have not been fully characterized. [provided by RefSeq, Jul 2008]
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growth factor trong>receptortrong>-bound protetrong>introng> 2
The protetrong>introng> encoded by this gene btrong>introng>ds the epidermal growth factor trong>receptortrong> and contatrong>introng>s one SH2 domatrong>introng> and two SH3 domatrong>introng>s. Its two SH3 domatrong>introng>s direct complex formation with proltrong>introng>e-rich regions of other protetrong>introng>s, and its SH2 domatrong>introng> btrong>introng>ds tyrostrong>introng>e phosphorylated sequences. This gene is similar to the Sem5 gene of C.elegans, which is trong>introng>volved trong>introng> the signal transduction pathway. Two alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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growth factor trong>receptortrong>-bound protetrong>introng> 7
The product of this gene belongs to a small family of adapter protetrong>introng>s that are known to trong>introng>teract with a number of trong>receptortrong> tyrostrong>introng>e ktrong>introng>ases and signaltrong>introng>g molecules. This gene encodes a growth factor trong>receptortrong>-btrong>introng>dtrong>introng>g protetrong>introng> that trong>introng>teracts with epidermal growth factor trong>receptortrong> (EGFR) and ephrtrong>introng> trong>receptortrong>s. The protetrong>introng> plays a role trong>introng> the trong>introng>tegrtrong>introng> signaltrong>introng>g pathway and cell migration by btrong>introng>dtrong>introng>g with focal adhesion ktrong>introng>ase (FAK). Several transcript variants encodtrong>introng>g two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
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olfactory trong>receptortrong>, family 4, subfamily F, member 3
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily F, member 6
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily F, member 4
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily F, member 5
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily B, member 21
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily AP, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily AT, member 4
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily K, member 6 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 1, subfamily N, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 1, subfamily N, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily AT, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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trong>introng>terleuktrong>introng> 17 trong>receptortrong> B
The protetrong>introng> encoded by this gene is a cytoktrong>introng>e trong>receptortrong>. This trong>receptortrong> specifically btrong>introng>ds to IL17B and IL17E, but does not btrong>introng>d to IL17 and IL17C. This trong>receptortrong> has been shown to mediate the activation of NF-kappaB and the production of IL8 trong>introng>duced by IL17E. The expression of the rat counterpart of this gene was found to be significantly up-regulated durtrong>introng>g trong>introng>testtrong>introng>al trong>introng>flammation, which suggested the immunoregulatory activity of this trong>receptortrong>. [provided by RefSeq, Jul 2008]
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trong>introng>terferon, lambda trong>receptortrong> 1
The protetrong>introng> encoded by this gene belongs to the class II cytoktrong>introng>e trong>receptortrong> family. This protetrong>introng> forms a trong>receptortrong> complex with trong>introng>terleuktrong>introng>e 10 trong>receptortrong>, trong>betatrong> (IL10RB). The trong>receptortrong> complex has been shown to trong>introng>teract with three closely related cytoktrong>introng>es, trong>introng>cludtrong>introng>g trong>introng>terleuktrong>introng> 28A (IL28A), trong>introng>terleuktrong>introng> 28B (IL28B), and trong>introng>terleuktrong>introng> 29 (IL29). The expression of all three cytoktrong>introng>es can be trong>introng>duced by viral trong>introng>fection. The cells overexpresstrong>introng>g this protetrong>introng> have been found to have enhanced responses to IL28A and IL29, but decreased response to IL28B. Three alternatively spliced transcript variants encodtrong>introng>g disttrong>introng>ct isoforms have been reported. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 11, subfamily A, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 117 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 52 pseudogene
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olfactory trong>receptortrong>, family 7, subfamily E, member 41 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily A, member 12
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily A, member 14
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 52, subfamily B, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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sphtrong>introng>gostrong>introng>e-1-phosphate trong>receptortrong> 3
This gene encodes a member of the EDG family of trong>receptortrong>s, which are G protetrong>introng>-coupled trong>receptortrong>s. This protetrong>introng> has been identified as a functional trong>receptortrong> for sphtrong>introng>gostrong>introng>e 1-phosphate and likely contributes to the regulation of angiogenesis and vascular endothelial cell function. [provided by RefSeq, Jul 2008]
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sphtrong>introng>gostrong>introng>e-1-phosphate trong>receptortrong> 2
This gene encodes a member of the G protetrong>introng>-coupled trong>receptortrong>s, as well as the EDG family of protetrong>introng>s. The encoded protetrong>introng> is a trong>receptortrong> for sphtrong>introng>gostrong>introng>e 1-phosphate, which participates trong>introng> cell proliferation, survival, and transcriptional activation. Defects trong>introng> this gene have been associated with congenital profound deafness. [provided by RefSeq, Mar 2016]
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sphtrong>introng>gostrong>introng>e-1-phosphate trong>receptortrong> 1
The protetrong>introng> encoded by this gene is structurally similar to G protetrong>introng>-coupled trong>receptortrong>s and is highly expressed trong>introng> endothelial cells. It btrong>introng>ds the ligand sphtrong>introng>gostrong>introng>e-1-phosphate with high afftrong>introng>ity and high specificity, and suggested to be trong>introng>volved trong>introng> the processes that regulate the differentiation of endothelial cells. Activation of this trong>receptortrong> trong>introng>duces cell-cell adhesion. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Mar 2016]
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sphtrong>introng>gostrong>introng>e-1-phosphate trong>receptortrong> 5
The lysosphtrong>introng>golipid sphtrong>introng>gostrong>introng>e 1-phosphate (S1P) regulates cell proliferation, apoptosis, motility, and neurite retraction. Its actions may be both trong>introng>tracellular as a second messenger and extracellular as a trong>receptortrong> ligand. S1P and the structurally related lysolipid mediator lysophosphatidic acid (LPA) signal cells through a set of G protetrong>introng>-coupled trong>receptortrong>s known as EDG trong>receptortrong>s. Some EDG trong>receptortrong>s (e.g., EDG1; MIM 601974) are S1P trong>receptortrong>s; others (e.g., EDG2; MIM 602282) are LPA trong>receptortrong>s.[supplied by OMIM, Mar 2008]
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sphtrong>introng>gostrong>introng>e-1-phosphate trong>receptortrong> 4
This gene is a member of the endothelial differentiation, G-protetrong>introng>-coupled (EDG)) trong>receptortrong> gene family. EDG trong>receptortrong>s btrong>introng>d lysophospholipids or lysosphtrong>introng>golipids as ligands, and are trong>introng>volved trong>introng> cell signalltrong>introng>g trong>introng> many different cell types. This EDG trong>receptortrong> gene is trong>introng>tronless and is specifically expressed trong>introng> the lymphoid tissue. [provided by RefSeq, Jul 2008]
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retention trong>introng> endoplasmic reticulum sorttrong>introng>g trong>receptortrong> 1
The protetrong>introng> encoded by this gene is a multi-pass membrane protetrong>introng> that is localized to the golgi apparatus. It is trong>introng>volved trong>introng> the retention of endoplasmic reticulum (ER) membrane protetrong>introng>s trong>introng> the ER and retrieval of ER membrane protetrong>introng>s from the early Golgi compartment to facilitate gamma-secretase complex assembly. [provided by RefSeq, Oct 2009]
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olfactory trong>receptortrong>, family 7, subfamily E, member 99 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong> 4F3/4F16/4F29-like
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olfactory trong>receptortrong>, family 7, subfamily D, member 11 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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G protetrong>introng>-coupled trong>receptortrong> 180
This gene encodes a protetrong>introng> that is a member of the G protetrong>introng>-coupled trong>receptortrong> superfamily. This protetrong>introng> is produced predomtrong>introng>antly trong>introng> vascular smooth muscle cells and may play an important role trong>introng> the regulation of vascular remodeltrong>introng>g. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 11, subfamily J, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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toll-like trong>receptortrong> 2
The protetrong>introng> encoded by this gene is a member of the Toll-like trong>receptortrong> (TLR) family which plays a fundamental role trong>introng> pathogen recognition and activation of trong>introng>nate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. This protetrong>introng> is a cell-surface protetrong>introng> that can form heterodimers with other TLR family members to recognize conserved molecules derived from microorganisms known as pathogen-associated molecular patterns (PAMPs). Activation of TLRs by PAMPs leads to an up-regulation of signaltrong>introng>g pathways to modulate the host's trong>introng>flammatory response. This gene is also thought to promote apoptosis trong>introng> response to bacterial lipoprotetrong>introng>s. This gene has been implicated trong>introng> the pathogenesis of several autoimmune diseases. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jan 2016]
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toll-like trong>receptortrong> 3
The protetrong>introng> encoded by this gene is a member of the Toll-like trong>receptortrong> (TLR) family which plays a fundamental role trong>introng> pathogen recognition and activation of trong>introng>nate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on trong>introng>fectious agents, and mediate the production of cytoktrong>introng>es necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This trong>receptortrong> is most abundantly expressed trong>introng> placenta and pancreas, and is restricted to the dendritic subpopulation of the leukocytes. It recognizes dsRNA associated with viral trong>introng>fection, and trong>introng>duces the activation of NF-kappaB and the production of type I trong>introng>terferons. It thus plays a role trong>introng> host defense agatrong>introng>st multiple viruses. [provided by RefSeq, Jul 2021]
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toll-like trong>receptortrong> 1
The protetrong>introng> encoded by this gene is a member of the Toll-like trong>receptortrong> (TLR) family which plays a fundamental role trong>introng> pathogen recognition and activation of trong>introng>nate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on trong>introng>fectious agents, and mediate the production of cytoktrong>introng>es necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is ubiquitously expressed, and at higher levels than other TLR genes. Different length transcripts presumably resulttrong>introng>g from use of alternative polyadenylation site, and/or from alternative splictrong>introng>g, have been noted for this gene. [provided by RefSeq, Jul 2008]
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toll-like trong>receptortrong> 6
The protetrong>introng> encoded by this gene is a member of the Toll-like trong>receptortrong> (TLR) family which plays a fundamental role trong>introng> pathogen recognition and activation of trong>introng>nate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on trong>introng>fectious agents, and mediate the production of cytoktrong>introng>es necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This trong>receptortrong> functionally trong>introng>teracts with toll-like trong>receptortrong> 2 to mediate cellular response to bacterial lipoprotetrong>introng>s. A Ser249Pro polymorphism trong>introng> the extracellular domatrong>introng> of the encoded protetrong>introng> may be associated with an trong>introng>creased of asthma is some populations.[provided by RefSeq, Jan 2011]
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toll-like trong>receptortrong> 7
The protetrong>introng> encoded by this gene is a member of the Toll-like trong>receptortrong> (TLR) family which plays a fundamental role trong>introng> pathogen recognition and activation of trong>introng>nate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. The human TLR family comprises 11 members. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on trong>introng>fectious agents, and mediate the production of cytoktrong>introng>es necessary for the development of effective immunity. For the recognition of structural components trong>introng> foreign microorganisms, the various TLRs exhibit different patterns of expression as well; trong>introng> this way for example, TLR-3, -7, and -8 are essential trong>introng> the recognition of strong>introng>gle-stranded RNA viruses. TLR7 senses strong>introng>gle-stranded RNA oligonucleotides contatrong>introng>trong>introng>g guanostrong>introng>e- and uridtrong>introng>e-rich sequences from RNA viruses, a recognition occurtrong>introng>g trong>introng> the endosomes of plasmacytoid dendritic cells and B cells. This gene is predomtrong>introng>antly expressed trong>introng> lung, placenta, and spleen, and is phylogenetically related and lies trong>introng> close proximity to another family member, TLR8, on chromosome X. [provided by RefSeq, Aug 2020]
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toll-like trong>receptortrong> 4
The protetrong>introng> encoded by this gene is a member of the Toll-like trong>receptortrong> (TLR) family which plays a fundamental role trong>introng> pathogen recognition and activation of trong>introng>nate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns that are expressed on trong>introng>fectious agents, and mediate the production of cytoktrong>introng>es necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. trong>Introng> silico studies have found a particularly strong btrong>introng>dtrong>introng>g of surface TLR4 with the spike protetrong>introng> of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the causative agent of Coronavirus disease-2019 (COVID-19). This trong>receptortrong> has also been implicated trong>introng> signal transduction events trong>introng>duced by lipopolysaccharide (LPS) found trong>introng> most gram-negative bacteria. Mutations trong>introng> this gene have been associated with differences trong>introng> LPS responsiveness, and with susceptibility to age-related macular degeneration. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Aug 2020]
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toll-like trong>receptortrong> 5
This gene encodes a member of the toll-like trong>receptortrong> (TLR) family, which plays a fundamental role trong>introng> pathogen recognition and activation of trong>introng>nate immune responses. These trong>receptortrong>s recognize disttrong>introng>ct pathogen-associated molecular patterns that are expressed on trong>introng>fectious agents. The protetrong>introng> encoded by this gene recognizes bacterial flagelltrong>introng>, the prtrong>introng>cipal component of bacterial flagella and a virulence factor. The activation of this trong>receptortrong> mobilizes the nuclear factor NF-kappaB, which trong>introng> turn activates a host of trong>introng>flammatory-related target genes. Mutations trong>introng> this gene have been associated with both resistance and susceptibility to systemic lupus erythematosus, and susceptibility to Legionnaire disease.[provided by RefSeq, Dec 2009]
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toll-like trong>receptortrong> 8
The protetrong>introng> encoded by this gene is a member of the Toll-like trong>receptortrong> (TLR) family which plays a fundamental role trong>introng> pathogen recognition and activation of trong>introng>nate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on trong>introng>fectious agents, and mediate the production of cytoktrong>introng>es necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is predomtrong>introng>antly expressed trong>introng> lung and peripheral blood leukocytes, and lies trong>introng> close proximity to another family member, TLR7, on chromosome X. [provided by RefSeq, Jul 2008]
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toll-like trong>receptortrong> 9
The protetrong>introng> encoded by this gene is a member of the Toll-like trong>receptortrong> (TLR) family, which plays a fundamental role trong>introng> pathogen recognition and activation of trong>introng>nate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on trong>introng>fectious agents, and mediate the production of cytoktrong>introng>es necessary for the development of effective immunity. Studies trong>introng> mice and human trong>introng>dicate that this trong>receptortrong> mediates cellular response to unmethylated CpG dtrong>introng>ucleotides trong>introng> bacterial DNA to mount an trong>introng>nate immune response. [provided by RefSeq, Aug 2017]
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vomeronasal 1 trong>receptortrong> 21 pseudogene
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adhesion G protetrong>introng>-coupled trong>receptortrong> G1
This gene encodes a member of the G protetrong>introng>-coupled trong>receptortrong> family and regulates bratrong>introng> cortical patterntrong>introng>g. The encoded protetrong>introng> btrong>introng>ds specifically to transglutamtrong>introng>ase 2, a component of tissue and tumor stroma implicated as an trong>introng>hibitor of tumor progression. Mutations trong>introng> this gene are associated with a bratrong>introng> malformation known as bilateral frontoparietal polymicrogyria. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Feb 2014]
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vomeronasal 1 trong>receptortrong> 45 pseudogene
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trong>introng>terleuktrong>introng> 27 trong>receptortrong>, alpha
trong>Introng> mice, CD4+ helper T-cells differentiate trong>introng>to type 1 (Th1) cells, which are critical for cell-mediated immunity, predomtrong>introng>antly under the trong>introng>fluence of IL12. Also, IL4 trong>introng>fluences their differentiation trong>introng>to type 2 (Th2) cells, which are critical for most antibody responses. Mice deficient trong>introng> these cytoktrong>introng>es, their trong>receptortrong>s, or associated transcription factors have impaired, but are not absent of, Th1 or Th2 immune responses. This gene encodes a protetrong>introng> which is similar to the mouse T-cell cytoktrong>introng>e trong>receptortrong> Tccr at the amtrong>introng>o acid level, and is predicted to be a glycosylated transmembrane protetrong>introng>. [provided by RefSeq, Jul 2008]
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ERBB trong>receptortrong> feedback trong>introng>hibitor 1
ERRFI1 is a cytoplasmic protetrong>introng> whose expression is upregulated with cell growth (Wick et al., 1995 [PubMed 7641805]). It shares significant homology with the protetrong>introng> product of rat gene-33, which is trong>introng>duced durtrong>introng>g cell stress and mediates cell signaltrong>introng>g (Makktrong>introng>je et al., 2000 [PubMed 10749885]; Fiorenttrong>introng>o et al., 2000 [PubMed 11003669]).[supplied by OMIM, Mar 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 121 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 5 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This family member is believed to be a pseudogene. [provided by RefSeq, Jun 2009]
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olfactory trong>receptortrong>, family 6, subfamily L, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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taste trong>receptortrong>, type 2, member 15, pseudogene
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olfactory trong>receptortrong>, family 6, subfamily K, member 3
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 6, subfamily K, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 6, subfamily K, member 6
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 19 pseudogene
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growth hormone releastrong>introng>g hormone trong>receptortrong>
This gene encodes a trong>receptortrong> for growth hormone-releastrong>introng>g hormone. Btrong>introng>dtrong>introng>g of this hormone to the trong>receptortrong> leads to synthesis and release of growth hormone. Mutations trong>introng> this gene have been associated with isolated growth hormone deficiency (IGHD), also known as Dwarfism of Strong>introng>dh, a disorder characterized by short stature. [provided by RefSeq, Jun 2010]
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olfactory trong>receptortrong>, family 5, subfamily AK, member 4 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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aryl hydrocarbon trong>receptortrong> nuclear translocator
This gene encodes a protetrong>introng> contatrong>introng>trong>introng>g a basic helix-loop-helix domatrong>introng> and two characteristic PAS domatrong>introng>s along with a PAC domatrong>introng>. The encoded protetrong>introng> btrong>introng>ds to ligand-bound aryl hydrocarbon trong>receptortrong> and aids trong>introng> the movement of this complex to the nucleus, where it promotes the expression of genes trong>introng>volved trong>introng> xenobiotic metabolism. This protetrong>introng> is also a co-factor for transcriptional regulation by hypoxia-trong>introng>ducible factor 1. Chromosomal translocation of this locus with the ETV6 (ets variant 6) gene on chromosome 12 have been described trong>introng> leukemias. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Oct 2013]
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cubiltrong>introng> (trong>introng>trtrong>introng>sic factor-cobalamtrong>introng> trong>receptortrong>) pseudogene 2
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cubiltrong>introng> (trong>introng>trtrong>introng>sic factor-cobalamtrong>introng> trong>receptortrong>) pseudogene 3
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cubiltrong>introng> (trong>introng>trtrong>introng>sic factor-cobalamtrong>introng> trong>receptortrong>) pseudogene 1
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olfactory trong>receptortrong>, family 5, subfamily G, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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estrogen trong>receptortrong> 1
This gene encodes an estrogen trong>receptortrong> and ligand-activated transcription factor. The canonical protetrong>introng> contatrong>introng>s an N-termtrong>introng>al ligand-trong>introng>dependent transactivation domatrong>introng>, a central DNA btrong>introng>dtrong>introng>g domatrong>introng>, a htrong>introng>ge domatrong>introng>, and a C-termtrong>introng>al ligand-dependent transactivation domatrong>introng>. The protetrong>introng> localizes to the nucleus where it may form either a homodimer or a heterodimer with estrogen trong>receptortrong> 2. The protetrong>introng> encoded by this gene regulates the transcription of many estrogen-trong>introng>ducible genes that play a role trong>introng> growth, metabolism, sexual development, gestation, and other reproductive functions and is expressed trong>introng> many non-reproductive tissues. The trong>receptortrong> encoded by this gene plays a key role trong>introng> breast cancer, endometrial cancer, and osteoporosis. This gene is reported to have dozens of transcript variants due to the use of alternate promoters and alternative splictrong>introng>g, however, the full-length nature of many of these variants rematrong>introng> uncertatrong>introng>. [provided by RefSeq, Jul 2020]
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olfactory trong>receptortrong>, family 51, subfamily A, member 9 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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glucagon-like peptide 2 trong>receptortrong>
This gene encodes a G protetrong>introng>-coupled trong>receptortrong> that is closely related to the glucagon trong>receptortrong> and btrong>introng>ds to glucagon-like peptide-2 (GLP2). Signalltrong>introng>g through GLP2 stimulates trong>introng>testtrong>introng>al growth and trong>introng>creases villus height trong>introng> the small trong>introng>testtrong>introng>e, concomitant with trong>introng>creased crypt cell proliferation and decreased enterocyte apoptosis. [provided by RefSeq, Dec 2014]
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AR
Gene
androgen trong>receptortrong>
The androgen trong>receptortrong> gene is more than 90 kb long and codes for a protetrong>introng> that has 3 major functional domatrong>introng>s: the N-termtrong>introng>al domatrong>introng>, DNA-btrong>introng>dtrong>introng>g domatrong>introng>, and androgen-btrong>introng>dtrong>introng>g domatrong>introng>. The protetrong>introng> functions as a steroid-hormone activated transcription factor. Upon btrong>introng>dtrong>introng>g the hormone ligand, the trong>receptortrong> dissociates from accessory protetrong>introng>s, translocates trong>introng>to the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. This gene contatrong>introng>s 2 polymorphic trtrong>introng>ucleotide repeat segments that encode polyglutamtrong>introng>e and polyglyctrong>introng>e tracts trong>introng> the N-termtrong>introng>al transactivation domatrong>introng> of its protetrong>introng>. Expansion of the polyglutamtrong>introng>e tract from the normal 9-34 repeats to the pathogenic 38-62 repeats causes sptrong>introng>al bulbar muscular atrophy (SBMA, also known as Kennedy's disease). Mutations trong>introng> this gene are also associated with complete androgen trong>introng>sensitivity (CAIS). Alternative splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g different isoforms. [provided by RefSeq, Jan 2017]
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olfactory trong>receptortrong>, family 2, subfamily M, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 8, subfamily K, member 4 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily L, member 5
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily L, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily L, member 8 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jun 2015]
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olfactory trong>receptortrong>, family 56, subfamily B, member 3 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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adhesion G protetrong>introng>-coupled trong>receptortrong> B1
Angiogenesis is controlled by a local balance between stimulators and trong>introng>hibitors of new vessel growth and is suppressed under normal physiologic conditions. Angiogenesis has been shown to be essential for growth and metastasis of solid tumors. trong>Introng> order to obtatrong>introng> blood supply for their growth, tumor cells are potently angiogenic and attract new vessels as results of trong>introng>creased secretion of trong>introng>ducers and decreased production of endogenous negative regulators. BAI1 contatrong>introng>s at least one 'functional' p53-btrong>introng>dtrong>introng>g site withtrong>introng> an trong>introng>tron, and its expression has been shown to be trong>introng>duced by wildtype p53. There are two other bratrong>introng>-specific angiogenesis trong>introng>hibitor genes, designated BAI2 and BAI3 which along with BAI1 have similar tissue specificities and structures, however only BAI1 is transcriptionally regulated by p53. BAI1 is postulated to be a member of the secrettrong>introng> trong>receptortrong> family, an trong>introng>hibitor of angiogenesis and a growth suppressor of glioblastomas [provided by RefSeq, Jul 2008]
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adhesion G protetrong>introng>-coupled trong>receptortrong> B2
This gene encodes a a seven-span transmembrane protetrong>introng> that is thought to be a member of the secrettrong>introng> trong>receptortrong> family. The encoded protetrong>introng> is a bratrong>introng>-specific trong>introng>hibitor of angiogenesis. The mature peptide may be further cleaved trong>introng>to additional products (PMID:20367554). Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jun 2014]
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adhesion G protetrong>introng>-coupled trong>receptortrong> B3
This p53-target gene encodes a bratrong>introng>-specific angiogenesis trong>introng>hibitor, a seven-span transmembrane protetrong>introng>, and is thought to be a member of the secrettrong>introng> trong>receptortrong> family. Bratrong>introng>-specific angiogenesis protetrong>introng>s BAI2 and BAI3 are similar to BAI1 trong>introng> structure, have similar tissue specificities, and may also play a role trong>introng> angiogenesis. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 70 pseudogene
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toll-like trong>receptortrong> 12, pseudogene
Predicted to act upstream of or withtrong>introng> defense response to protozoan. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong> 4N4
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olfactory trong>receptortrong>, family 5, subfamily M, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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lepttrong>introng> trong>receptortrong> overlapptrong>introng>g transcript-like 1
Enables identical protetrong>introng> btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> late endosome to vacuole transport via multivesicular body sorttrong>introng>g pathway and negative regulation of growth hormone trong>receptortrong> signaltrong>introng>g pathway. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> endosome. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong>, family 8, subfamily Q, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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leukocyte trong>receptortrong> cluster (LRC) member 1
Predicted to be located trong>introng> nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]
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leukocyte trong>receptortrong> cluster (LRC) member 9
Predicted to enable metal ion btrong>introng>dtrong>introng>g activity. [provided by Alliance of Genome Resources, Mar 2025]
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leukocyte trong>receptortrong> cluster (LRC) member 8
Predicted to be part of protetrong>introng>-contatrong>introng>trong>introng>g complex. Predicted to be active trong>introng> nucleus. [provided by Alliance of Genome Resources, Mar 2025]
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GABA(A) trong>receptortrong>-associated protetrong>introng> like 1
Enables Tat protetrong>introng> btrong>introng>dtrong>introng>g activity; phospholipid btrong>introng>dtrong>introng>g activity; and ubiquittrong>introng> protetrong>introng> ligase btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> cellular response to nitrogen starvation and macroautophagy. Located trong>introng> autophagosome and mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]
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GABA(A) trong>receptortrong>-associated protetrong>introng>-like 2
Enables phosphatidylethanolamtrong>introng>e btrong>introng>dtrong>introng>g activity and ubiquittrong>introng> protetrong>introng> ligase btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> negative regulation of proteasomal protetrong>introng> catabolic process and protetrong>introng> localization to endoplasmic reticulum. Located trong>introng> Golgi membrane and autophagosome membrane. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong>, family 4, subfamily Q, member 3
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily Q, member 2 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jan 2017]
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olfactory trong>receptortrong>, family 2, subfamily A, member 9 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 25 pseudogene
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olfactory trong>receptortrong>, family 6, subfamily K, member 5 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 52, subfamily M, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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chemoktrong>introng>e (C-C motif) trong>receptortrong> 1
This gene encodes a member of the trong>betatrong> chemoktrong>introng>e trong>receptortrong> family, which is predicted to be a seven transmembrane protetrong>introng> similar to G protetrong>introng>-coupled trong>receptortrong>s. The ligands of this trong>receptortrong> trong>introng>clude macrophage trong>introng>flammatory protetrong>introng> 1 alpha (MIP-1 alpha), regulated on activation normal T expressed and secreted protetrong>introng> (RANTES), monocyte chemoattractant protetrong>introng> 3 (MCP-3), and myeloid progenitor trong>introng>hibitory factor-1 (MPIF-1). Chemoktrong>introng>es and their trong>receptortrong>s mediated signal transduction are critical for the recruitment of effector immune cells to the site of trong>introng>flammation. Knockout studies of the mouse homolog suggested the roles of this gene trong>introng> host protection from trong>introng>flammatory response, and susceptibility to virus and parasite. This gene and other chemoktrong>introng>e trong>receptortrong> genes, trong>introng>cludtrong>introng>g CCR2, CCRL2, CCR3, CCR5 and CCXCR1, are found to form a gene cluster on chromosome 3p. [provided by RefSeq, Jul 2008]
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chemoktrong>introng>e (C-C motif) trong>receptortrong> 2
The protetrong>introng> encoded by this gene is a trong>receptortrong> for monocyte chemoattractant protetrong>introng>-1, a chemoktrong>introng>e which specifically mediates monocyte chemotaxis. Monocyte chemoattractant protetrong>introng>-1 is trong>introng>volved trong>introng> monocyte trong>introng>filtration trong>introng> trong>introng>flammatory diseases such as rheumatoid arthritis as well as trong>introng> the trong>introng>flammatory response agatrong>introng>st tumors. The encoded protetrong>introng> mediates agonist-dependent calcium mobilization and trong>introng>hibition of adenylyl cyclase. This protetrong>introng> can also be a cotrong>receptortrong> with CD4 for HIV-1 trong>introng>fection. This gene is located trong>introng> the chemoktrong>introng>e trong>receptortrong> gene cluster region of chromosome 3. [provided by RefSeq, Aug 2017]
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chemoktrong>introng>e (C-C motif) trong>receptortrong> 3
The protetrong>introng> encoded by this gene is a trong>receptortrong> for C-C type chemoktrong>introng>es. It belongs to family 1 of the G protetrong>introng>-coupled trong>receptortrong>s. This trong>receptortrong> btrong>introng>ds and responds to a variety of chemoktrong>introng>es, trong>introng>cludtrong>introng>g eotaxtrong>introng> (CCL11), eotaxtrong>introng>-3 (CCL26), MCP-3 (CCL7), MCP-4 (CCL13), and RANTES (CCL5). It is highly expressed trong>introng> eostrong>introng>ophils and basophils, and is also detected trong>introng> TH1 and TH2 cells, as well as trong>introng> airway epithelial cells. This trong>receptortrong> may contribute to the accumulation and activation of eostrong>introng>ophils and other trong>introng>flammatory cells trong>introng> the allergic airway. It is also known to be an entry co-trong>receptortrong> for HIV-1. This gene and seven other chemoktrong>introng>e trong>receptortrong> genes form a chemoktrong>introng>e trong>receptortrong> gene cluster on the chromosomal region 3p21. Alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2009]
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chemoktrong>introng>e (C-C motif) trong>receptortrong> 4
The protetrong>introng> encoded by this gene belongs to the G-protetrong>introng>-coupled trong>receptortrong> family . It is a trong>receptortrong> for the CC chemoktrong>introng>e - MIP-1, RANTES, TARC and MCP-1. Chemoktrong>introng>es are a group of small polypeptide, structurally related molecules that regulate cell trafficktrong>introng>g of various types of leukocytes. The chemoktrong>introng>es also play fundamental roles trong>introng> the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells trong>introng>volved trong>introng> angiogenesis or angiostasis. [provided by RefSeq, Jul 2008]
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chemoktrong>introng>e (C-C motif) trong>receptortrong> 5 (gene/pseudogene)
This gene encodes a member of the trong>betatrong> chemoktrong>introng>e trong>receptortrong> family, which is predicted to be a seven transmembrane protetrong>introng> similar to G protetrong>introng>-coupled trong>receptortrong>s. This protetrong>introng> is expressed by T cells and macrophages, and is known to be an important co-trong>receptortrong> for macrophage-tropic virus, trong>introng>cludtrong>introng>g HIV, to enter host cells. Defective alleles of this gene have been associated with the HIV trong>introng>fection resistance. The ligands of this trong>receptortrong> trong>introng>clude monocyte chemoattractant protetrong>introng> 2 (MCP-2), macrophage trong>introng>flammatory protetrong>introng> 1 alpha (MIP-1 alpha), macrophage trong>introng>flammatory protetrong>introng> 1 trong>betatrong> (MIP-1 trong>betatrong>) and regulated on activation normal T expressed and secreted protetrong>introng> (RANTES). Expression of this gene was also detected trong>introng> a promyeloblastic cell ltrong>introng>e, suggesttrong>introng>g that this protetrong>introng> may play a role trong>introng> granulocyte ltrong>introng>eage proliferation and differentiation. This gene is located at the chemoktrong>introng>e trong>receptortrong> gene cluster region. An allelic polymorphism trong>introng> this gene results trong>introng> both functional and non-functional alleles; the reference genome represents the functional allele. Two transcript variants encodtrong>introng>g the same protetrong>introng> have been found for this gene. [provided by RefSeq, Jul 2015]
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chemoktrong>introng>e (C-C motif) trong>receptortrong> 7
The protetrong>introng> encoded by this gene is a member of the G protetrong>introng>-coupled trong>receptortrong> family. This trong>receptortrong> was identified as a gene trong>introng>duced by the Epstetrong>introng>-Barr virus (EBV), and is thought to be a mediator of EBV effects on B lymphocytes. This trong>receptortrong> is expressed trong>introng> various lymphoid tissues and activates B and T lymphocytes. It has been shown to control the migration of memory T cells to trong>introng>flamed tissues, as well as stimulate dendritic cell maturation. The chemoktrong>introng>e (C-C motif) ligand 19 (CCL19/ECL) has been reported to be a specific ligand of this trong>receptortrong>. Signals mediated by this trong>receptortrong> regulate T cell homeostasis trong>introng> lymph nodes, and may also function trong>introng> the activation and polarization of T cells, and trong>introng> chronic trong>introng>flammation pathogenesis. Alternative splictrong>introng>g of this gene results trong>introng> multiple transcript variants. [provided by RefSeq, Sep 2014]
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chemoktrong>introng>e (C-C motif) trong>receptortrong> 8
This gene encodes a member of the trong>betatrong> chemoktrong>introng>e trong>receptortrong> family, which is predicted to be a seven transmembrane protetrong>introng> similar to G protetrong>introng>-coupled trong>receptortrong>s. Chemoktrong>introng>es and their trong>receptortrong>s are important for the migration of various cell types trong>introng>to the trong>introng>flammatory sites. This trong>receptortrong> protetrong>introng> preferentially expresses trong>introng> the thymus. I-309, thymus activation-regulated cytoktrong>introng>e (TARC) and macrophage trong>introng>flammatory protetrong>introng>-1 trong>betatrong> (MIP-1 trong>betatrong>) have been identified as ligands of this trong>receptortrong>. Studies of this trong>receptortrong> and its ligands suggested its role trong>introng> regulation of monocyte chemotaxis and thymic cell apoptosis. More specifically, this trong>receptortrong> may contribute to the proper positiontrong>introng>g of activated T cells withtrong>introng> the antigenic challenge sites and specialized areas of lymphoid tissues. This gene is located at the chemoktrong>introng>e trong>receptortrong> gene cluster region. [provided by RefSeq, Jul 2008]
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chemoktrong>introng>e (C-C motif) trong>receptortrong> 9
The protetrong>introng> encoded by this gene is a G protetrong>introng>-coupled trong>receptortrong> with seven transmembrane domatrong>introng>s that belongs to the trong>betatrong> chemoktrong>introng>e trong>receptortrong> family. Chemoktrong>introng>es and their trong>receptortrong>s are key regulators of thymocyte migration and maturation trong>introng> normal and trong>introng>flammation conditions. This gene is differentially expressed trong>introng> T lymphocytes of the small trong>introng>testtrong>introng>e and colon, and its trong>introng>teraction with chemoktrong>introng>e 25 contributes to trong>introng>testtrong>introng>al trong>introng>tra-epithelial lymphocyte homtrong>introng>g to the small trong>introng>testtrong>introng>e. This suggests a role for this gene trong>introng> directtrong>introng>g immune responses to different segments of the gastrotrong>introng>testtrong>introng>al tract. This gene and its exclusive ligand, chemoktrong>introng>e 25, are overexpressed trong>introng> a variety of malignant tumors and are closely associated with tumor proliferation, apoptosis, trong>introng>vasion, migration and drug resistance. This gene maps to the chemoktrong>introng>e trong>receptortrong> gene cluster. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Aug 2020]
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olfactory trong>receptortrong>, family 7, subfamily E, member 29 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily U, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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protetrong>introng> tyrostrong>introng>e phosphatase, trong>receptortrong> type, N polypeptide 2
This gene encodes a protetrong>introng> with sequence similarity to trong>receptortrong>-like protetrong>introng> tyrostrong>introng>e phosphatases. However, tyrostrong>introng>e phosphatase activity has not been experimentally validated for this protetrong>introng>. Studies of the rat ortholog suggest that the encoded protetrong>introng> may trong>introng>stead function as a phosphatidyltrong>introng>ositol phosphatase with the ability to dephosphorylate phosphatidyltrong>introng>ositol 3-phosphate and phosphatidyltrong>introng>ositol 4,5-diphosphate, and this function may be trong>introng>volved trong>introng> the regulation of trong>introng>sultrong>introng> secretion. This protetrong>introng> has been identified as an autoantigen trong>introng> trong>introng>sultrong>introng>-dependent diabetes mellitus. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Feb 2015]
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olfactory trong>receptortrong>, family 7, subfamily E, member 91 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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sortiltrong>introng>-related trong>receptortrong>, L(DLR class) A repeats contatrong>introng>trong>introng>g
This gene encodes a mosaic protetrong>introng> that belongs to at least two families: the vacuolar protetrong>introng> sorttrong>introng>g 10 (VPS10) domatrong>introng>-contatrong>introng>trong>introng>g trong>receptortrong> family, and the low density lipoprotetrong>introng> trong>receptortrong> (LDLR) family. The encoded protetrong>introng> also contatrong>introng>s fibronecttrong>introng> type III repeats and an epidermal growth factor repeat. The encoded preproprotetrong>introng> is proteolytically processed to generate the mature trong>receptortrong>, which likely plays roles trong>introng> endocytosis and sorttrong>introng>g. Mutations trong>introng> this gene may be associated with Alzheimer's disease. [provided by RefSeq, Feb 2016]
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D(1B) dopamtrong>introng>e trong>receptortrong>-like
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nuclear trong>receptortrong> subfamily 0, group B, member 2
The protetrong>introng> encoded by this gene is an unusual orphan trong>receptortrong> that contatrong>introng>s a putative ligand-btrong>introng>dtrong>introng>g domatrong>introng> but lacks a conventional DNA-btrong>introng>dtrong>introng>g domatrong>introng>. The gene product is a member of the nuclear hormone trong>receptortrong> family, a group of transcription factors regulated by small hydrophobic hormones, a subset of which do not have known ligands and are referred to as orphan nuclear trong>receptortrong>s. The protetrong>introng> has been shown to trong>introng>teract with rettrong>introng>oid and thyroid hormone trong>receptortrong>s, trong>introng>hibittrong>introng>g their ligand-dependent transcriptional activation. trong>Introng> addition, trong>introng>teraction with estrogen trong>receptortrong>s has been demonstrated, leadtrong>introng>g to trong>introng>hibition of function. Studies suggest that the protetrong>introng> represses nuclear hormone trong>receptortrong>-mediated transactivation via two separate steps: competition with coactivators and the direct effects of its transcriptional repressor function. [provided by RefSeq, Jul 2008]
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nuclear trong>receptortrong> subfamily 0, group B, member 1
This gene encodes a protetrong>introng> that contatrong>introng>s a DNA-btrong>introng>dtrong>introng>g domatrong>introng>. The encoded protetrong>introng> acts as a domtrong>introng>ant-negative regulator of transcription which is mediated by the rettrong>introng>oic acid trong>receptortrong>. This protetrong>introng> also functions as an anti-testis gene by acttrong>introng>g antagonistically to Sry. Mutations trong>introng> this gene result trong>introng> both X-ltrong>introng>ked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. [provided by RefSeq, Jul 2008]
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ciliary neurotrophic factor trong>receptortrong>
This gene encodes a member of the type 1 cytoktrong>introng>e trong>receptortrong> family. The encoded protetrong>introng> is the ligand-specific component of a tripartite trong>receptortrong> for ciliary neurotrophic factor, which plays a critical role trong>introng> neuronal cell survival, differentiation and gene expression. Btrong>introng>dtrong>introng>g of ciliary neurotrophic factor to the encoded protetrong>introng> recruits the transmembrane components of the trong>receptortrong>, gp130 and leukemia trong>introng>hibitory factor trong>receptortrong>, facilitattrong>introng>g signal transduction. Strong>introng>gle nucleotide polymorphisms trong>introng> this gene may be associated with variations trong>introng> muscle strength, as well as early onset of eattrong>introng>g disorders. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2011]
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tachyktrong>introng>trong>introng> trong>receptortrong> 3
This gene belongs to a family of genes that function as trong>receptortrong>s for tachyktrong>introng>trong>introng>s. trong>Receptortrong> afftrong>introng>ities are specified by variations trong>introng> the 5'-end of the sequence. The trong>receptortrong>s belongtrong>introng>g to this family are characterized by trong>introng>teractions with G protetrong>introng>s and 7 hydrophobic transmembrane regions. This gene encodes the trong>receptortrong> for the tachyktrong>introng>trong>introng> neuroktrong>introng>trong>introng> 3, also referred to as neuroktrong>introng>trong>introng> B. [provided by RefSeq, Jul 2008]
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tachyktrong>introng>trong>introng> trong>receptortrong> 2
This gene belongs to a family of genes that function as trong>receptortrong>s for tachyktrong>introng>trong>introng>s. trong>Receptortrong> afftrong>introng>ities are specified by variations trong>introng> the 5'-end of the sequence. The trong>receptortrong>s belongtrong>introng>g to this family are characterized by trong>introng>teractions with G protetrong>introng>s and 7 hydrophobic transmembrane regions. This gene encodes the trong>receptortrong> for the tachyktrong>introng>trong>introng> neuropeptide substance K, also referred to as neuroktrong>introng>trong>introng> A. [provided by RefSeq, Jul 2008]
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tachyktrong>introng>trong>introng> trong>receptortrong> 1
This gene belongs to a gene family of tachyktrong>introng>trong>introng> trong>receptortrong>s. These tachyktrong>introng>trong>introng> trong>receptortrong>s are characterized by trong>introng>teractions with G protetrong>introng>s and contatrong>introng> seven hydrophobic transmembrane regions. This gene encodes the trong>receptortrong> for the tachyktrong>introng>trong>introng> substance P, also referred to as neuroktrong>introng>trong>introng> 1. The encoded protetrong>introng> is also trong>introng>volved trong>introng> the mediation of phosphatidyltrong>introng>ositol metabolism of substance P. [provided by RefSeq, Sep 2008]
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taste trong>receptortrong>, type 2, member 2, pseudogene
Enables bitter taste trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway and detection of chemical stimulus trong>introng>volved trong>introng> sensory perception of bitter taste. Located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong>, family 10, subfamily K, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily K, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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C1D nuclear trong>receptortrong> corepressor pseudogene 1
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C1D nuclear trong>receptortrong> corepressor pseudogene 3
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olfactory trong>receptortrong>, family 2, subfamily A, member 5 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily H, member 12 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily A, member 18 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily A, member 4 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 6, subfamily S, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 8, subfamily I, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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scavenger trong>receptortrong> protetrong>introng> family member
Predicted to be trong>introng>volved trong>introng> T cell mediated immunity. Located trong>introng> brush border and cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]
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opioid growth factor trong>receptortrong> pseudogene 1
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olfactory trong>receptortrong>, family 7, subfamily E, member 89 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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signal recognition particle trong>receptortrong> (docktrong>introng>g protetrong>introng>)
The gene encodes a subunit of the endoplasmic reticulum signal recognition particle trong>receptortrong> that, trong>introng> conjunction with the signal recognition particle, is trong>introng>volved trong>introng> the targettrong>introng>g and translocation of signal sequence tagged secretory and membrane protetrong>introng>s across the endoplasmic reticulum. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Apr 2010]
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protetrong>introng> tyrostrong>introng>e phosphatase, non-trong>receptortrong> type 20C, pseudogene
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trong>introng>terleuktrong>introng> 1 trong>receptortrong>, type II
The protetrong>introng> encoded by this gene is a cytoktrong>introng>e trong>receptortrong> that belongs to the trong>introng>terleuktrong>introng> 1 trong>receptortrong> family. This protetrong>introng> btrong>introng>ds trong>introng>terleuktrong>introng> alpha (IL1A), trong>introng>terleuktrong>introng> trong>betatrong> (IL1B), and trong>introng>terleuktrong>introng> 1 trong>receptortrong>, type I(IL1R1/IL1RA), and acts as a decoy trong>receptortrong> that trong>introng>hibits the activity of its ligands. trong>Introng>terleuktrong>introng> 4 (IL4) is reported to antagonize the activity of trong>introng>terleuktrong>introng> 1 by trong>introng>ductrong>introng>g the expression and release of this cytoktrong>introng>e. This gene and three other genes form a cytoktrong>introng>e trong>receptortrong> gene cluster on chromosome 2q12. Alternative splictrong>introng>g results trong>introng> multiple transcript variants and protetrong>introng> isoforms. Alternative splictrong>introng>g produces both membrane-bound and soluble protetrong>introng>s. A soluble protetrong>introng> is also produced by proteolytic cleavage. [provided by RefSeq, May 2012]
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trong>introng>terleuktrong>introng> 1 trong>receptortrong>, type I
This gene encodes a cytoktrong>introng>e trong>receptortrong> that belongs to the trong>introng>terleuktrong>introng>-1 trong>receptortrong> family. The encoded protetrong>introng> is a trong>receptortrong> for trong>introng>terleuktrong>introng>-1 alpha, trong>introng>terleuktrong>introng>-1 trong>betatrong>, and trong>introng>terleuktrong>introng>-1 trong>receptortrong> antagonist. It is an important mediator trong>introng>volved trong>introng> many cytoktrong>introng>e-trong>introng>duced immune and trong>introng>flammatory responses. This gene is located trong>introng> a cluster of related cytoktrong>introng>e trong>receptortrong> genes on chromosome 2q12. [provided by RefSeq, Dec 2013]
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trong>introng>ositol 1,4,5-trisphosphate trong>receptortrong>, type 2
The protetrong>introng> encoded by this gene belongs to the trong>introng>ositol 1,4,5-triphosphate trong>receptortrong> family, whose members are second messenger trong>introng>tracellular calcium release channels. These protetrong>introng>s mediate a rise trong>introng> cytoplasmic calcium trong>introng> response to trong>receptortrong> activated production of trong>introng>ositol triphosphate. trong>Introng>ositol triphosphate trong>receptortrong>-mediated signaltrong>introng>g is trong>introng>volved trong>introng> many processes trong>introng>cludtrong>introng>g cell migration, cell division, smooth muscle contraction, and neuronal signaltrong>introng>g. This protetrong>introng> is a type 2 trong>receptortrong> that consists of a cytoplasmic amtrong>introng>o-termtrong>introng>us that btrong>introng>ds trong>introng>ositol triphosphate, six membrane-spanntrong>introng>g helices that contribute to the ion pore, and a short cytoplasmic carboxy-termtrong>introng>us. A mutation trong>introng> this gene has been associated with anhidrosis, suggesttrong>introng>g that trong>introng>tracellular calcium release mediated by this protetrong>introng> is required for eccrtrong>introng>e sweat production. [provided by RefSeq, Apr 2015]
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trong>introng>ositol 1,4,5-trisphosphate trong>receptortrong>, type 3
This gene encodes a trong>receptortrong> for trong>introng>ositol 1,4,5-trisphosphate, a second messenger that mediates the release of trong>introng>tracellular calcium. The trong>receptortrong> contatrong>introng>s a calcium channel at the C-termtrong>introng>us and the ligand-btrong>introng>dtrong>introng>g site at the N-termtrong>introng>us. Knockout studies trong>introng> mice suggest that type 2 and type 3 trong>introng>ositol 1,4,5-trisphosphate trong>receptortrong>s play a key role trong>introng> exocrtrong>introng>e secretion underlytrong>introng>g energy metabolism and growth. [provided by RefSeq, Aug 2010]
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trong>introng>ositol 1,4,5-trisphosphate trong>receptortrong>, type 1
This gene encodes an trong>introng>tracellular trong>receptortrong> for trong>introng>ositol 1,4,5-trisphosphate. Upon stimulation by trong>introng>ositol 1,4,5-trisphosphate, this trong>receptortrong> mediates calcium release from the endoplasmic reticulum. Mutations trong>introng> this gene cause sptrong>introng>ocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]
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trong>introng>terleuktrong>introng> 1 trong>receptortrong> antagonist
The protetrong>introng> encoded by this gene is a member of the trong>introng>terleuktrong>introng> 1 cytoktrong>introng>e family. This protetrong>introng> trong>introng>hibits the activities of trong>introng>terleuktrong>introng> 1, alpha (IL1A) and trong>introng>terleuktrong>introng> 1, trong>betatrong> (IL1B), and modulates a variety of trong>introng>terleuktrong>introng> 1 related immune and trong>introng>flammatory responses, particularly trong>introng> the acute phase of trong>introng>fection and trong>introng>flammation. This gene and five other closely related cytoktrong>introng>e genes form a gene cluster spanntrong>introng>g approximately 400 kb on chromosome 2. A polymorphism of this gene is reported to be associated with trong>introng>creased risk of osteoporotic fractures and gastric cancer. Several alternatively spliced transcript variants encodtrong>introng>g disttrong>introng>ct isoforms have been reported. [provided by RefSeq, Aug 2020]
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progesterone trong>receptortrong> membrane component 2
Enables heme btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> adipose tissue development. Located trong>introng> endoplasmic reticulum and nuclear envelope. [provided by Alliance of Genome Resources, Mar 2025]
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progesterone trong>receptortrong> membrane component 1
This gene encodes a putative membrane-associated progesterone steroid trong>receptortrong>. The protetrong>introng> is expressed predomtrong>introng>antly trong>introng> the liver and kidney. [provided by RefSeq, Mar 2010]
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olfactory trong>receptortrong>, family 4, subfamily A, member 43 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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trong>introng>sultrong>introng>-like growth factor 1 trong>receptortrong>
This trong>receptortrong> btrong>introng>ds trong>introng>sultrong>introng>-like growth factor with a high afftrong>introng>ity. It has tyrostrong>introng>e ktrong>introng>ase activity. The trong>introng>sultrong>introng>-like growth factor I trong>receptortrong> plays a critical role trong>introng> transformation events. Cleavage of the precursor generates alpha and trong>betatrong> subunits. It is highly overexpressed trong>introng> most malignant tissues where it functions as an anti-apoptotic agent by enhanctrong>introng>g cell survival. Alternatively spliced transcript variants encodtrong>introng>g disttrong>introng>ct isoforms have been found for this gene. [provided by RefSeq, May 2014]
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trong>introng>terleuktrong>introng> 7 trong>receptortrong>
The protetrong>introng> encoded by this gene is a trong>receptortrong> for trong>introng>terleuktrong>introng> 7 (IL7). The function of this trong>receptortrong> requires the trong>introng>terleuktrong>introng> 2 trong>receptortrong>, gamma trong>chatrong>introng>trong> (IL2RG), which is a common gamma trong>chatrong>introng>trong> shared by the trong>receptortrong>s of various cytoktrong>introng>es, trong>introng>cludtrong>introng>g trong>introng>terleuktrong>introng>s 2, 4, 7, 9, and 15. This protetrong>introng> has been shown to play a critical role trong>introng> V(D)J recombtrong>introng>ation durtrong>introng>g lymphocyte development. Defects trong>introng> this gene may be associated with severe combtrong>introng>ed immunodeficiency (SCID). Alternatively spliced transcript variants have been found. [provided by RefSeq, Dec 2015]
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olfactory trong>receptortrong>, family 51, subfamily A, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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sertrong>introng>e-threontrong>introng>e ktrong>introng>ase trong>receptortrong>-associated protetrong>introng> pseudogene
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trong>introng>ositol 1,4,5-trisphosphate trong>receptortrong> trong>introng>teracttrong>introng>g protetrong>introng>
This gene encodes a membrane-associated protetrong>introng> that btrong>introng>ds the trong>introng>ositol 1,4,5-trisphosphate trong>receptortrong> (ITPR). The encoded protetrong>introng> enhances the sensitivity of ITPR to trong>introng>tracellular calcium signaltrong>introng>g. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Dec 2012]
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olfactory trong>receptortrong>, family 5, subfamily R, member 1 pseudogene
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olfactory trong>receptortrong>, family 1, subfamily M, member 1 pseudogene
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olfactory trong>receptortrong>, family 1, subfamily N, member 1 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily B, member 2 pseudogene
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adiponecttrong>introng> trong>receptortrong> 1 pseudogene 1
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adiponecttrong>introng> trong>receptortrong> 1 pseudogene 2
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vomeronasal 1 trong>receptortrong> 108 pseudogene
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toll-like trong>receptortrong> 2 pseudogene
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thyroid hormone trong>receptortrong> trong>introng>teractor 10
Enables identical protetrong>introng> btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> acttrong>introng> cytoskeleton organization and signal transduction. Located trong>introng> nucleoplasm. Biomarker of Hunttrong>introng>gton's disease. [provided by Alliance of Genome Resources, Mar 2025]
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thyroid hormone trong>receptortrong> trong>introng>teractor 11
This gene was identified based on the trong>introng>teraction of its protetrong>introng> product with thyroid hormone trong>receptortrong> trong>betatrong>. This protetrong>introng> is associated with the Golgi apparatus. The N-termtrong>introng>al region of the protetrong>introng> btrong>introng>ds Golgi membranes and the C-termtrong>introng>al region btrong>introng>ds the mtrong>introng>us ends of microtubules; thus, the protetrong>introng> is thought to play a role trong>introng> assembly and matrong>introng>tenance of the Golgi ribbon structure around the centrosome. Mutations trong>introng> this gene cause achondrogenesis type IA.[provided by RefSeq, Mar 2010]
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thyroid hormone trong>receptortrong> trong>introng>teractor 12
The protetrong>introng> encoded by this gene is an E3 ubiquittrong>introng>-protetrong>introng> ligase trong>introng>volved trong>introng> the degradation of the p19ARF/ARF isoform of CDKN2A, a tumor suppressor. The encoded protetrong>introng> also plays a role trong>introng> the DNA damage response by regulattrong>introng>g the stability of USP7, which regulates tumor suppressor p53. [provided by RefSeq, Jan 2017]
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thyroid hormone trong>receptortrong> trong>introng>teractor 13
This gene encodes a protetrong>introng> that trong>introng>teracts with thyroid hormone trong>receptortrong>s, also known as hormone-dependent transcription factors. The gene product trong>introng>teracts specifically with the ligand btrong>introng>dtrong>introng>g domatrong>introng>. This gene is one of several that may play a role trong>introng> early-stage non-small cell lung cancer. [provided by RefSeq, Oct 2009]
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olfactory trong>receptortrong>, family 2, subfamily D, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily D, member 3
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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taste trong>receptortrong>, type 1, member 1
The protetrong>introng> encoded by this gene is a G protetrong>introng>-coupled trong>receptortrong> and is a component of the heterodimeric amtrong>introng>o acid taste trong>receptortrong> T1R1+3. The T1R1+3 trong>receptortrong> responds to L-amtrong>introng>o acids but not to D-enantiomers or other compounds. Most amtrong>introng>o acids that are perceived as sweet activate T1R1+3, and this activation is strictly dependent on an trong>introng>tact T1R1+3 heterodimer. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
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taste trong>receptortrong>, type 1, member 3
The protetrong>introng> encoded by this gene is a G-protetrong>introng> coupled trong>receptortrong> trong>introng>volved trong>introng> taste responses. The encoded protetrong>introng> can form a heterodimeric trong>receptortrong> with TAS1R1 to elicit the umami taste response, or it can btrong>introng>d with TAS1R2 to form a trong>receptortrong> for the sweet taste response. [provided by RefSeq, Nov 2015]
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taste trong>receptortrong>, type 1, member 2
Contributes to sweet taste trong>receptortrong> activity. trong>Introng>volved trong>introng> detection of chemical stimulus trong>introng>volved trong>introng> sensory perception of sweet taste and positive regulation of cytoktrong>introng>esis. Part of sweet taste trong>receptortrong> complex. [provided by Alliance of Genome Resources, Mar 2025]
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GABA(A) trong>receptortrong>-associated protetrong>introng> pseudogene
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olfactory trong>receptortrong>, family 7, subfamily E, member 100 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 2 trong>receptortrong> 15 pseudogene
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vomeronasal 1 trong>receptortrong> 63 pseudogene
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olfactory trong>receptortrong>, family 51, subfamily F, member 5 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily AG, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 52, subfamily M, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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G protetrong>introng>-coupled trong>receptortrong> 135
Enables arresttrong>introng> family protetrong>introng> btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway. Located trong>introng> endosome and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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G protetrong>introng>-coupled trong>receptortrong> 137
Predicted to be trong>introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g negative regulation of bone resorption; negative regulation of osteoclast differentiation; and positive regulation of TORC1 signaltrong>introng>g. Located trong>introng> lysosomal membrane. [provided by Alliance of Genome Resources, Mar 2025]
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G protetrong>introng>-coupled trong>receptortrong> 132
This gene encodes a member of the guantrong>introng>e nucleotide-btrong>introng>dtrong>introng>g protetrong>introng> (G protetrong>introng>)-coupled trong>receptortrong> (GPCR) superfamily. The trong>receptortrong>s are seven-pass transmembrane protetrong>introng>s that respond to extracellular cues and activate trong>introng>tracellular signal transduction pathways. This protetrong>introng> was reported to be a trong>receptortrong> for lysophosphatidylcholtrong>introng>e action, but PubMedID: 15653487 retracts this ftrong>introng>dtrong>introng>g and trong>introng>stead suggests this protetrong>introng> to be an effector of lysophosphatidylcholtrong>introng>e action. This protetrong>introng> may have proton-senstrong>introng>g activity and may be a trong>receptortrong> for oxidized free fatty acids. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jul 2013]
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G protetrong>introng>-coupled trong>receptortrong> 139
This gene encodes a member of the rhodopstrong>introng> family of G-protetrong>introng>-coupled trong>receptortrong>s. The encoded protetrong>introng> is almost exclusively expressed trong>introng> the central nervous system. L-tryptophan and L-phenylalantrong>introng>e may act as the physiologic ligands of the encoded protetrong>introng>. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jan 2016]
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sertrong>introng>e/threontrong>introng>e ktrong>introng>ase trong>receptortrong> associated protetrong>introng> pseudogene
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olfactory trong>receptortrong>, family 56, subfamily A, member 7 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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G protetrong>introng>-coupled trong>receptortrong> 88
The protetrong>introng> encoded by this gene is a G protetrong>introng>-coupled trong>receptortrong> found almost exclusively trong>introng> the striatum, a bratrong>introng> structure that controls motor function and cognition. Defects trong>introng> this gene have been associated with chorea, speech delay, and learntrong>introng>g difficulties, as well as some neuropsychiatric disorders. [provided by RefSeq, Mar 2017]
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G protetrong>introng>-coupled trong>receptortrong> 82
The protetrong>introng> encoded by this gene is an orphan G protetrong>introng>-coupled trong>receptortrong> of unknown function. The encoded protetrong>introng> is a member of a family of protetrong>introng>s that contatrong>introng> seven transmembrane domatrong>introng>s and transduce extracellular signals through heterotrimeric G protetrong>introng>s. [provided by RefSeq, Sep 2011]
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G protetrong>introng>-coupled trong>receptortrong> 83
Predicted to enable neuropeptide trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> neuropeptide signaltrong>introng>g pathway and phospholipase C-activattrong>introng>g G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway. Predicted to act upstream of or withtrong>introng> response to glucocorticoid. Located trong>introng> cilium. [provided by Alliance of Genome Resources, Mar 2025]
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G protetrong>introng>-coupled trong>receptortrong> 84
Predicted to enable urotenstrong>introng> II trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> neuropeptide signaltrong>introng>g pathway. Part of trong>receptortrong> complex. [provided by Alliance of Genome Resources, Mar 2025]
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G protetrong>introng>-coupled trong>receptortrong> 85
Members of the G protetrong>introng>-coupled trong>receptortrong> (GPCR) family, such as GPR85, have a similar structure characterized by 7 transmembrane domatrong>introng>s. Activation of GPCRs by extracellular stimuli, such as neurotransmitters, hormones, or light, trong>introng>duces an trong>introng>tracellular signaltrong>introng>g cascade mediated by heterotrimeric GTP-btrong>introng>dtrong>introng>g protetrong>introng>s, or G protetrong>introng>s (Matsumoto et al., 2000 [PubMed 10833454]).[supplied by OMIM, Aug 2008]
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G protetrong>introng>-coupled trong>receptortrong> 87
This gene encodes a G protetrong>introng>-coupled trong>receptortrong> and is located trong>introng> a cluster of G protetrong>introng>-couple trong>receptortrong> genes on chromosome 3. The encoded protetrong>introng> has been shown to be overexpressed trong>introng> lung squamous cell carctrong>introng>oma (PMID:18057535) and regulated by p53 (PMID:19602589). [provided by RefSeq, Nov 2011]
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olfactory trong>receptortrong>, family 13, subfamily H, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily L, member 13
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 162 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily L, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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leukocyte trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase
The protetrong>introng> encoded by this gene is a member of the ros/trong>introng>sultrong>introng> trong>receptortrong> family of tyrostrong>introng>e ktrong>introng>ases. Tyrostrong>introng>e-specific phosphorylation of protetrong>introng>s is a key to the control of diverse pathways leadtrong>introng>g to cell growth and differentiation. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
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olfactory trong>receptortrong>, family 4, subfamily A, member 15 pseudogene
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olfactory trong>receptortrong>, family 7, subfamily E, member 33 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 52, subfamily E, member 4 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily C, member 46 pseudogene
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olfactory trong>receptortrong>, family 8, subfamily A, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily C, member 1 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jul 2015]
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bone morphogenetic protetrong>introng> trong>receptortrong>, type II (sertrong>introng>e/threontrong>introng>e ktrong>introng>ase)
This gene encodes a member of the bone morphogenetic protetrong>introng> (BMP) trong>receptortrong> family of transmembrane sertrong>introng>e/threontrong>introng>e ktrong>introng>ases. The ligands of this trong>receptortrong> are members of the TGF-trong>betatrong> superfamily. BMPs are trong>introng>volved trong>introng> endochondral bone formation and embryogenesis. These protetrong>introng>s transduce their signals through the formation of heteromeric complexes of two different types of sertrong>introng>e (threontrong>introng>e) ktrong>introng>ase trong>receptortrong>s: type I trong>receptortrong>s of about 50-55 kD and type II trong>receptortrong>s of about 70-80 kD. Mutations trong>introng> this gene have been associated with primary pulmonary hypertension, both familial and fenfluramtrong>introng>e-associated, and with pulmonary venoocclusive disease. [provided by RefSeq, May 2020]
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olfactory trong>receptortrong>, family 5, subfamily F, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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natural cytotoxicity triggertrong>introng>g trong>receptortrong> 1 pseudogene
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ktrong>introng>ase trong>introng>sert domatrong>introng> trong>receptortrong>
Vascular endothelial growth factor (VEGF) is a major growth factor for endothelial cells. This gene encodes one of the two trong>receptortrong>s of the VEGF. This trong>receptortrong>, known as ktrong>introng>ase trong>introng>sert domatrong>introng> trong>receptortrong>, is a type III trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase. It functions as the matrong>introng> mediator of VEGF-trong>introng>duced endothelial proliferation, survival, migration, tubular morphogenesis and sprouttrong>introng>g. The signalltrong>introng>g and trafficktrong>introng>g of this trong>receptortrong> are regulated by multiple factors, trong>introng>cludtrong>introng>g Rab GTPase, P2Y purtrong>introng>e nucleotide trong>receptortrong>, trong>introng>tegrtrong>introng> alphaVtrong>betatrong>3, T-cell protetrong>introng> tyrostrong>introng>e phosphatase, etc.. Mutations of this gene are implicated trong>introng> trong>introng>fantile capillary hemangiomas. [provided by RefSeq, May 2009]
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olfactory trong>receptortrong>, family 2, subfamily B, member 6 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily A, member 10 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily Y, member 1 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily F, member 13 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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mannose trong>receptortrong>, C type 2
This gene encodes a member of the mannose trong>receptortrong> family of protetrong>introng>s that contatrong>introng> a fibronecttrong>introng> type II domatrong>introng> and multiple C-type lecttrong>introng>-like domatrong>introng>s. The encoded protetrong>introng> plays a role trong>introng> extracellular matrix remodeltrong>introng>g by mediattrong>introng>g the trong>introng>ternalization and lysosomal degradation of collagen ligands. Expression of this gene may play a role trong>introng> the tumorigenesis and metastasis of several malignancies trong>introng>cludtrong>introng>g breast cancer, gliomas and metastatic bone disease. [provided by RefSeq, Feb 2012]
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vomeronasal 1 trong>receptortrong> 44 pseudogene
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olfactory trong>receptortrong>, family 5, subfamily AK, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 51, subfamily B, member 8 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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paired immunoglobtrong>introng>-like type 2 trong>receptortrong> alpha
Cell signaltrong>introng>g pathways rely on a dynamic trong>introng>teraction between activattrong>introng>g and trong>introng>hibittrong>introng>g processes. SHP-1-mediated dephosphorylation of protetrong>introng> tyrostrong>introng>e residues is central to the regulation of several cell signaltrong>introng>g pathways. Two types of trong>introng>hibitory trong>receptortrong> superfamily members are immunotrong>receptortrong> tyrostrong>introng>e-based trong>introng>hibitory motif (ITIM)-beartrong>introng>g trong>receptortrong>s and their non-ITIM-beartrong>introng>g, activattrong>introng>g counterparts. Control of cell signaltrong>introng>g via SHP-1 is thought to occur through a balance between PILRalpha-mediated trong>introng>hibition and PILRtrong>betatrong>-mediated activation. These paired immunoglobultrong>introng>-like trong>receptortrong> genes are located trong>introng> a tandem head-to-tail orientation on chromosome 7. This particular gene encodes the ITIM-beartrong>introng>g member of the trong>receptortrong> pair, which functions trong>introng> the trong>introng>hibitory role. Alternative splictrong>introng>g has been observed at this locus and three variants, each encodtrong>introng>g a disttrong>introng>ct isoform, are described. [provided by RefSeq, Jul 2008]
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macrophage mannose trong>receptortrong> 1-like
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melanocorttrong>introng> 2 trong>receptortrong> accessory protetrong>introng> 2
This gene encodes a protetrong>introng> that modulates melanocorttrong>introng> trong>receptortrong> signaltrong>introng>g. The encoded protetrong>introng> has been shown to trong>introng>teract with all known melanocorttrong>introng> trong>receptortrong>s and may regulate both trong>receptortrong> trafficktrong>introng>g and activation trong>introng> response to ligands. Mice lacktrong>introng>g a functional copy of this gene exhibit severe obesity and a mutation trong>introng> this gene may be associated with severe obesity trong>introng> human patients. [provided by RefSeq, Oct 2016]
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olfactory trong>receptortrong>, family 5, subfamily AQ, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily X, member 1 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jun 2015]
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vomeronasal 1 trong>receptortrong> 87 pseudogene
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transient trong>receptortrong> potential cation channel, subfamily A, member 1
The structure of the protetrong>introng> encoded by this gene is highly related to both the protetrong>introng> ankyrtrong>introng> and transmembrane protetrong>introng>s. The specific function of this protetrong>introng> has not yet been determtrong>introng>ed; however, studies trong>introng>dicate the function may trong>introng>volve a role trong>introng> signal transduction and growth control. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 51, subfamily AB, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily R, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily D, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily D, member 4
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 9, subfamily N, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 12 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily A, member 3 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 10 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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5-hydroxytryptamtrong>introng>e (serotontrong>introng>) trong>receptortrong> 3D, ionotropic
The protetrong>introng> encoded this gene belongs to the ligand-gated ion channel trong>receptortrong> superfamily. This gene encodes subunit D of the type 3 trong>receptortrong> for 5-hydroxytryptamtrong>introng>e (serotontrong>introng>), a biogenic hormone that functions as a neurotransmitter, a mitogen and a hormone. This hormone has been ltrong>introng>ked to neuropsychiatric disorders, trong>introng>cludtrong>introng>g anxiety, depression, and migratrong>introng>e. Serotontrong>introng> trong>receptortrong>s causes fast and depolariztrong>introng>g responses trong>introng> neurons followtrong>introng>g activation. The genes encodtrong>introng>g subunits C, D and E of this type 3 trong>receptortrong> form a cluster on chromosome 3. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]
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5-hydroxytryptamtrong>introng>e (serotontrong>introng>) trong>receptortrong> 3E, ionotropic
This locus encodes a 5-hydroxytryptamtrong>introng>e (serotontrong>introng>) trong>receptortrong> subunit. The encoded protetrong>introng>, subunit E, may play a role trong>introng> neurotransmission trong>introng> myenteric neurons. Genes encodtrong>introng>g subunits C, D and E form a cluster on chromosome 3. Alternatively spliced transcript variants encodtrong>introng>g disttrong>introng>ct isoforms have been described. [provided by RefSeq, Feb 2012]
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5-hydroxytryptamtrong>introng>e (serotontrong>introng>) trong>receptortrong> 3B, ionotropic
The product of this gene belongs to the ligand-gated ion channel trong>receptortrong> superfamily. This gene encodes subunit B of the type 3 trong>receptortrong> for 5-hydroxytryptamtrong>introng>e (serotontrong>introng>), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This trong>receptortrong> causes fast, depolariztrong>introng>g responses trong>introng> neurons after activation. It is not functional as a homomeric complex, but a pentaheteromeric complex with subunit A (HTR3A) displays the full functional features of this trong>receptortrong>. [provided by RefSeq, Aug 2011]
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5-hydroxytryptamtrong>introng>e (serotontrong>introng>) trong>receptortrong> 3C, ionotropic
The product of this gene belongs to the ligand-gated ion channel trong>receptortrong> superfamily. This gene encodes subunit C of the type 3 trong>receptortrong> for 5-hydroxytryptamtrong>introng>e (serotontrong>introng>), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This trong>receptortrong> causes fast, depolariztrong>introng>g responses trong>introng> neurons after activation. Genes encodtrong>introng>g subunits C, D and E form a cluster on chromosome 3. [provided by RefSeq, Jul 2008]
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5-hydroxytryptamtrong>introng>e (serotontrong>introng>) trong>receptortrong> 3A, ionotropic
The product of this gene belongs to the ligand-gated ion channel trong>receptortrong> superfamily. This gene encodes subunit A of the type 3 trong>receptortrong> for 5-hydroxytryptamtrong>introng>e (serotontrong>introng>), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This trong>receptortrong> causes fast, depolariztrong>introng>g responses trong>introng> neurons after activation. It appears that the heteromeric combtrong>introng>ation of A and B subunits is necessary to provide the full functional features of this trong>receptortrong>, strong>introng>ce either subunit alone results trong>introng> trong>receptortrong>s with very low conductance and response amplitude. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been identified. [provided by RefSeq, Jul 2008]
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Fc trong>receptortrong>, IgA, IgM, high afftrong>introng>ity
Predicted to enable IgA btrong>introng>dtrong>introng>g activity; IgM btrong>introng>dtrong>introng>g activity; and transmembrane signaltrong>introng>g trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> signal transduction. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong>, family 2, subfamily F, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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adenostrong>introng>e A2a trong>receptortrong>
This gene encodes a member of the guantrong>introng>e nucleotide-btrong>introng>dtrong>introng>g protetrong>introng> (G protetrong>introng>)-coupled trong>receptortrong> (GPCR) superfamily, which is subdivided trong>introng>to classes and subtypes. The trong>receptortrong>s are seven-pass transmembrane protetrong>introng>s that respond to extracellular cues and activate trong>introng>tracellular signal transduction pathways. This protetrong>introng>, an adenostrong>introng>e trong>receptortrong> of A2A subtype, uses adenostrong>introng>e as the preferred endogenous agonist and preferentially trong>introng>teracts with the G(s) and G(olf) family of G protetrong>introng>s to trong>introng>crease trong>introng>tracellular cAMP levels. It plays an important role trong>introng> many biological functions, such as cardiac rhythm and circulation, cerebral and renal blood flow, immune function, patrong>introng> regulation, and sleep. It has been implicated trong>introng> pathophysiological conditions such as trong>introng>flammatory diseases and neurodegenerative disorders. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. A read-through transcript composed of the upstream SPECC1L (sperm antigen with calpontrong>introng> homology and coiled-coil domatrong>introng>s 1-like) and ADORA2A (adenostrong>introng>e A2a trong>receptortrong>) gene sequence has been identified, but it is thought to be non-codtrong>introng>g. [provided by RefSeq, Jun 2013]
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adenostrong>introng>e A2b trong>receptortrong>
This gene encodes an adenostrong>introng>e trong>receptortrong> that is a member of the G protetrong>introng>-coupled trong>receptortrong> superfamily. This trong>introng>tegral membrane protetrong>introng> stimulates adenylate cyclase activity trong>introng> the presence of adenostrong>introng>e. This protetrong>introng> also trong>introng>teracts with netrtrong>introng>-1, which is trong>introng>volved trong>introng> axon elongation. The gene is located near the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 51, subfamily I, member 2 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily F, member 7 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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trong>introng>terleuktrong>introng> 6 signal transducer (gp130, oncostattrong>introng> M trong>receptortrong>) pseudogene 1
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olfactory trong>receptortrong>, family 5, subfamily J, member 2 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily A, member 5 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily A, member 5 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily A, member 5 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily A, member 5 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily A, member 5 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily A, member 5 pseudogene
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olfactory trong>receptortrong>, family 8, subfamily G, member 5
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 8, subfamily G, member 1 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This family member represents a polymorphic pseudogene, whereby some trong>introng>dividuals have a functional allele that encodes a full-length protetrong>introng>, while others have a non-functional allele due to the presence of an early stop codon and a 3' end deletion. [provided by RefSeq, Feb 2014]
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olfactory trong>receptortrong>, family 8, subfamily G, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily D, member 4 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily E, member 108 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 51, subfamily M, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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G protetrong>introng>-coupled trong>receptortrong> 37 like 1
Enables G protetrong>introng>-coupled peptide trong>receptortrong> activity; peptide btrong>introng>dtrong>introng>g activity; and prosapostrong>introng> trong>receptortrong> activity. trong>Introng>volved trong>introng> adenylate cyclase-trong>introng>hibittrong>introng>g G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway and positive regulation of MAPK cascade. Located trong>introng> plasma membrane. Part of trong>receptortrong> complex. [provided by Alliance of Genome Resources, Mar 2025]
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chemertrong>introng> chemoktrong>introng>e-like trong>receptortrong> 1
Enables adipoktrong>introng>etic hormone btrong>introng>dtrong>introng>g activity and adipoktrong>introng>etic hormone trong>receptortrong> activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g negative regulation of NF-kappaB transcription factor activity; positive regulation of macrophage chemotaxis; and regulation of calcium-mediated signaltrong>introng>g. Located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong>, family 52, subfamily E, member 6
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 52, subfamily E, member 5
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 52, subfamily E, member 4
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 52, subfamily E, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 52, subfamily E, member 1 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jan 2017]
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olfactory trong>receptortrong>, family 5, subfamily M, member 8 pseudogene
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olfactory trong>receptortrong>, family 5, subfamily M, member 8
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily M, member 9
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily M, member 3
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily M, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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Fc fragment of IgM trong>receptortrong>
Fc trong>receptortrong>s specifically btrong>introng>d to the Fc region of immunoglobultrong>introng>s (Igs) to mediate the unique functions of each Ig class. FAIM3 encodes an Fc trong>receptortrong> for IgM (see MIM 147020) (Kubagawa et al., 2009 [PubMed 19858324]; Shima et al., 2010 [PubMed 20042454]).[supplied by OMIM, Jul 2010]
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olfactory trong>receptortrong>, family 7, subfamily A, member 11 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily Y, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 4, subfamily A, member 8 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jan 2017]
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olfactory trong>receptortrong>, family 4, subfamily A, member 5
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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leukemia trong>introng>hibitory factor trong>receptortrong> alpha
This gene encodes a protetrong>introng> that belongs to the type I cytoktrong>introng>e trong>receptortrong> family. This protetrong>introng> combtrong>introng>es with a high-afftrong>introng>ity converter subunit, gp130, to form a trong>receptortrong> complex that mediates the action of the leukemia trong>introng>hibitory factor, a polyfunctional cytoktrong>introng>e that is trong>introng>volved trong>introng> cellular differentiation, proliferation and survival trong>introng> the adult and the embryo. Mutations trong>introng> this gene cause Schwartz-Jampel syndrome type 2, a disease belongtrong>introng>g to the group of the bent-bone dysplasias. A translocation that trong>introng>volves the promoter of this gene, t(5;8)(p13;q12) with the pleiomorphic adenoma gene 1, is associated with salivary gland pleiomorphic adenoma, a common type of benign epithelial tumor of the salivary gland. Multiple splice variants encodtrong>introng>g two different isoforms have been found for this gene. [provided by RefSeq, Jun 2018]
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bradyktrong>introng>trong>introng> trong>receptortrong> B1
Bradyktrong>introng>trong>introng>, a 9 aa peptide, is generated trong>introng> pathophysiologic conditions such as trong>introng>flammation, trauma, burns, shock, and allergy. The protetrong>introng> encoded by this gene belongs to the G-protetrong>introng> coupled trong>receptortrong> 1 family. Two types of G-protetrong>introng> coupled trong>receptortrong>s have been found which btrong>introng>d bradyktrong>introng>trong>introng> and mediate responses to these pathophysiologic conditions. The protetrong>introng> encoded by this gene is one of these trong>receptortrong>s and is synthesized de novo followtrong>introng>g tissue trong>introng>jury. trong>Receptortrong> btrong>introng>dtrong>introng>g leads to an trong>introng>crease trong>introng> the cytosolic calcium ion concentration, ultimately resulttrong>introng>g trong>introng> chronic and acute trong>introng>flammatory responses. [provided by RefSeq, Aug 2020]
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bradyktrong>introng>trong>introng> trong>receptortrong> B2
This gene encodes a trong>receptortrong> for bradyktrong>introng>trong>introng>. The 9 aa bradyktrong>introng>trong>introng> peptide elicits many responses trong>introng>cludtrong>introng>g vasodilation, edema, smooth muscle spasm and patrong>introng> fiber stimulation. Bradyktrong>introng>trong>introng> is released upon activation by pathophysiologic conditions such as trauma and trong>introng>flammation, and btrong>introng>ds to its ktrong>introng>trong>introng> trong>receptortrong>s, B1 and B2. The B2 trong>receptortrong> associates with G protetrong>introng>s that stimulate a phosphatidyltrong>introng>ositol-calcium second messenger system. [provided by RefSeq, Apr 2020]
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olfactory trong>receptortrong>, family 52, subfamily K, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily L, member 9 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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phosphotrong>introng>ositide-trong>introng>teracttrong>introng>g regulator of transient trong>receptortrong> potential channels
Predicted to enable phosphatidyltrong>introng>ositol bisphosphate btrong>introng>dtrong>introng>g activity and transmembrane transporter btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> regulation of sensory perception of patrong>introng>. Predicted to act upstream of or withtrong>introng> behavioral response to patrong>introng>; positive regulation of cation channel activity; and response to heat. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong>, family 1, subfamily C, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 11, subfamily H, member 12
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 1, subfamily D, member 3 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 3, subfamily A, member 4 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is transcribed and contatrong>introng>s an trong>introng>tact ORF, but it is predicted to be a pseudogene due to a poorly conserved 7-transmembrane domatrong>introng> structure. [provided by RefSeq, Sep 2008]
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vomeronasal 1 trong>receptortrong> 7 pseudogene
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vomeronasal 2 trong>receptortrong> 21 pseudogene
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vomeronasal 1 trong>receptortrong> 57 pseudogene
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trong>introng>terferon gamma trong>receptortrong> 1
This gene (IFNGR1) encodes the ligand-btrong>introng>dtrong>introng>g trong>chatrong>introng>trong> (alpha) of the gamma trong>introng>terferon trong>receptortrong>. Human trong>introng>terferon-gamma trong>receptortrong> is a heterodimer of IFNGR1 and IFNGR2. A genetic variation trong>introng> IFNGR1 is associated with susceptibility to Helicobacter pylori trong>introng>fection. trong>Introng> addition, defects trong>introng> IFNGR1 are a cause of mendelian susceptibility to mycobacterial disease, also known as familial dissemtrong>introng>ated atypical mycobacterial trong>introng>fection. [provided by RefSeq, Jul 2008]
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trong>introng>terferon gamma trong>receptortrong> 2 (trong>introng>terferon gamma transducer 1)
This gene (IFNGR2) encodes the non-ligand-btrong>introng>dtrong>introng>g trong>betatrong> trong>chatrong>introng>trong> of the gamma trong>introng>terferon trong>receptortrong>. Human trong>introng>terferon-gamma trong>receptortrong> is a heterodimer of IFNGR1 and IFNGR2. Defects trong>introng> IFNGR2 are a cause of mendelian susceptibility to mycobacterial disease (MSMD), also known as familial dissemtrong>introng>ated atypical mycobacterial trong>introng>fection. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal domtrong>introng>ant or X-ltrong>introng>ked trong>introng>heritance. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 100 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily S, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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nuclear trong>receptortrong> coactivator 4 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily AF, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 52, subfamily P, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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nuclear trong>receptortrong> subfamily 1, group I, member 4
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folate trong>receptortrong> 1 (adult) pseudogene 1
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olfactory trong>receptortrong>, family 11, subfamily J, member 5 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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adenostrong>introng>e A2b trong>receptortrong> pseudogene 1
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vomeronasal 2 trong>receptortrong> 7 pseudogene
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thyroid hormone trong>receptortrong> trong>introng>teractor 11 pseudogene
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thyroid hormone trong>receptortrong> trong>introng>teractor 11 pseudogene
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thyroid hormone trong>receptortrong> trong>introng>teractor 13 pseudogene
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olfactory trong>receptortrong>, family 52, subfamily R, member 1 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jun 2015]
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F11 trong>receptortrong>
Tight junctions represent one mode of cell-to-cell adhesion trong>introng> epithelial or endothelial cell sheets, formtrong>introng>g conttrong>introng>uous seals around cells and servtrong>introng>g as a physical barrier to prevent solutes and water from passtrong>introng>g freely through the paracellular space. The protetrong>introng> encoded by this immunoglobultrong>introng> superfamily gene member is an important regulator of tight junction assembly trong>introng> epithelia. trong>Introng> addition, the encoded protetrong>introng> can act as (1) a trong>receptortrong> for reovirus, (2) a ligand for the trong>introng>tegrtrong>introng> LFA1, trong>introng>volved trong>introng> leukocyte transmigration, and (3) a platelet trong>receptortrong>. Multiple 5' alternatively spliced variants, encodtrong>introng>g the same protetrong>introng>, have been identified but their biological validity has not been established. [provided by RefSeq, Jul 2008]
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glutamate trong>receptortrong>, ionotropic, delta 1
This gene encodes a subunit of glutamate trong>receptortrong> channels. These channels mediate most of the fast excitatory synaptic transmission trong>introng> the central nervous system and play key roles trong>introng> synaptic plasticity.[provided by RefSeq, Jan 2009]
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glutamate trong>receptortrong>, ionotropic, delta 2
The protetrong>introng> encoded by this gene is a member of the family of ionotropic glutamate trong>receptortrong>s which are the predomtrong>introng>ant excitatory neurotransmitter trong>receptortrong>s trong>introng> the mammalian bratrong>introng>. The encoded protetrong>introng> is a multi-pass membrane protetrong>introng> that is expressed selectively trong>introng> cerebellar Purktrong>introng>je cells. A potrong>introng>t mutation trong>introng> the mouse ortholog, associated with the phenotype named 'lurcher', trong>introng> the heterozygous state leads to ataxia resulttrong>introng>g from selective, cell-autonomous apoptosis of cerebellar Purktrong>introng>je cells durtrong>introng>g postnatal development. Mice homozygous for this mutation die shortly after birth from massive loss of mid- and htrong>introng>dbratrong>introng> neurons durtrong>introng>g late embryogenesis. This protetrong>introng> also plays a role trong>introng> synapse organization between parallel fibers and Purktrong>introng>je cells. Alternate splictrong>introng>g results trong>introng> multiple transcript variants encodtrong>introng>g disttrong>introng>ct isoforms. Mutations trong>introng> this gene cause cerebellar ataxia trong>introng> humans. [provided by RefSeq, Apr 2014]
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olfactory trong>receptortrong>, family 4, subfamily C, member 49 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily P, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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gastric trong>introng>hibitory polypeptide trong>receptortrong>
This gene encodes a G-protetrong>introng> coupled trong>receptortrong> for gastric trong>introng>hibitory polypeptide (GIP), which was origtrong>introng>ally identified as an activity trong>introng> gut extracts that trong>introng>hibited gastric acid secretion and gastrtrong>introng> release, but subsequently was demonstrated to stimulate trong>introng>sultrong>introng> release trong>introng> the presence of elevated glucose. Mice lacktrong>introng>g this gene exhibit higher blood glucose levels with impaired trong>introng>itial trong>introng>sultrong>introng> response after oral glucose load. Defect trong>introng> this gene thus may contribute to the pathogenesis of diabetes. [provided by RefSeq, Oct 2011]
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olfactory trong>receptortrong>, family 9, subfamily I, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 51, subfamily K, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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protetrong>introng> tyrostrong>introng>e phosphatase, non-trong>receptortrong> type 11 pseudogene
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olfactory trong>receptortrong>, family 6, subfamily F, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 6, subfamily C, member 68
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a seven-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Mar 2014]
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olfactory trong>receptortrong>, family 7, subfamily E, member 18 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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cornichon family AMPA trong>receptortrong> auxiliary protetrong>introng> 1
Predicted to enable signaltrong>introng>g trong>receptortrong> btrong>introng>dtrong>introng>g activity. Predicted to be trong>introng>volved trong>introng> immune response and signal transduction. Predicted to be located trong>introng> ER to Golgi transport vesicle membrane; endoplasmic reticulum membrane; and endoplasmic reticulum-Golgi trong>introng>termediate compartment membrane. [provided by Alliance of Genome Resources, Mar 2025]
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cornichon family AMPA trong>receptortrong> auxiliary protetrong>introng> 3
Predicted to enable channel regulator activity and signaltrong>introng>g trong>receptortrong> btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> regulation of AMPA trong>receptortrong> activity. Predicted to be located trong>introng> dendritic shaft and postsynaptic membrane. Predicted to be part of AMPA glutamate trong>receptortrong> complex. Predicted to be active trong>introng> dendrite and glutamatergic synapse. [provided by Alliance of Genome Resources, Mar 2025]
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cornichon family AMPA trong>receptortrong> auxiliary protetrong>introng> 2
The protetrong>introng> encoded by this gene is an auxiliary subunit of the ionotropic glutamate trong>receptortrong> of the AMPA subtype. AMPA trong>receptortrong>s mediate fast synaptic neurotransmission trong>introng> the central nervous system. This protetrong>introng> has been reported to trong>introng>teract with the Type I AMPA trong>receptortrong> regulatory protetrong>introng> isoform gamma-8 to control assembly of hippocampal AMPA trong>receptortrong> complexes, thereby modulattrong>introng>g trong>receptortrong> gattrong>introng>g and pharmacology. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Aug 2012]
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cornichon family AMPA trong>receptortrong> auxiliary protetrong>introng> 4
Enables CCR5 chemoktrong>introng>e trong>receptortrong> btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> endoplasmic reticulum to Golgi vesicle-mediated transport. Located trong>introng> endoplasmic reticulum and endoplasmic reticulum-Golgi trong>introng>termediate compartment. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong>, family 4, subfamily N, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily AB, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 9, subfamily G, member 4
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 9, subfamily G, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 9, subfamily G, member 9
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily G, member 4 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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proltrong>introng>e-rich trong>receptortrong>-like protetrong>introng> ktrong>introng>ase PERK13
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MAM and LDL trong>receptortrong> class A domatrong>introng> contatrong>introng>trong>introng>g 1
This gene encodes a conserved protetrong>introng> that features multiple MAM (meprtrong>introng>-A5-protetrong>introng> tyrostrong>introng>e phosphatase mu) and LDLR A2 (low density lipoprotetrong>introng> trong>receptortrong> A2) domatrong>introng>s. Expression of this gene is enriched trong>introng> the small trong>introng>testtrong>introng>e and is upregulated durtrong>introng>g differentiation of a human cell ltrong>introng>e that exhibits properties of trong>introng>testtrong>introng>al epithelial cells. The encoded protetrong>introng> has been shown to modulate production of FGF19 trong>introng> a human trong>introng>testtrong>introng>al cell ltrong>introng>e and may regulate bile acid metabolism trong>introng> the liver. A synergistic trong>introng>teraction between an allele of this gene and the APOE E4 allele is associated with an elevated risk of Alzheimer's disease trong>introng> human patients. [provided by RefSeq, Jul 2017]
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olfactory trong>receptortrong>, family 5, subfamily B, member 12 pseudogene
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olfactory trong>receptortrong>, family 4, subfamily C, member 12 pseudogene
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olfactory trong>receptortrong>, family 52, subfamily N, member 1 pseudogene
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olfactory trong>receptortrong>, family 2, subfamily T, member 8
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily T, member 6
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily T, member 7
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily T, member 4
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily T, member 5
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily T, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily T, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 51, subfamily E, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 51, subfamily E, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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RIC3 acetylcholtrong>introng>e trong>receptortrong> chaperone
This gene encodes a member of the resistance to trong>introng>hibitors of choltrong>introng>esterase 3-like family which functions as a chaperone of specific 5-hydroxytryptamtrong>introng>e type 3 trong>receptortrong> and nicottrong>introng>ic acetylcholtrong>introng>e trong>receptortrong> subtypes. The encoded protetrong>introng> trong>introng>fluences the foldtrong>introng>g and assembly of these trong>receptortrong> subunits trong>introng> the endoplasmic reticulum and expression on the cell surface. This protetrong>introng> contatrong>introng>s an N-termtrong>introng>al transmembrane domatrong>introng>, a proltrong>introng>e-rich spacer, and a cytosolic C-termtrong>introng>al coiled-coil domatrong>introng>. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Oct 2016]
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free fatty acid trong>receptortrong> 1
This gene encodes a member of the GP40 family of G protetrong>introng>-coupled trong>receptortrong>s that are clustered together on chromosome 19. The encoded protetrong>introng> is a trong>receptortrong> for medium and long trong>chatrong>introng>trong> free fatty acids and may be trong>introng>volved trong>introng> the metabolic regulation of trong>introng>sultrong>introng> secretion. Polymorphisms trong>introng> this gene may be associated with type 2 diabetes. [provided by RefSeq, Apr 2009]
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glucagon-like peptide 1 trong>receptortrong>
This gene encodes a 7-transmembrane protetrong>introng> that functions as a trong>receptortrong> for glucagon-like peptide 1 (GLP-1) hormone, which stimulates glucose-trong>introng>duced trong>introng>sultrong>introng> secretion. This trong>receptortrong>, which functions at the cell surface, becomes trong>introng>ternalized trong>introng> response to GLP-1 and GLP-1 analogs, and it plays an important role trong>introng> the signaltrong>introng>g cascades leadtrong>introng>g to trong>introng>sultrong>introng> secretion. It also displays neuroprotective effects trong>introng> animal models. Polymorphisms trong>introng> this gene are associated with diabetes. The protetrong>introng> is an important drug target for the treatment of type 2 diabetes and stroke. Alternative splictrong>introng>g of this gene results trong>introng> multiple transcript variants. [provided by RefSeq, Apr 2016]
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olfactory trong>receptortrong>, family 2, subfamily W, member 2 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 7, subfamily A, member 19 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 85 pseudogene
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adhesion G protetrong>introng>-coupled trong>receptortrong> G7
Predicted to enable G protetrong>introng>-coupled trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> adenylate cyclase-activattrong>introng>g G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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adhesion G protetrong>introng>-coupled trong>receptortrong> G6
This gene, which is upregulated trong>introng> human umbilical vetrong>introng> endothelial cells, encodes a G protetrong>introng>-coupled trong>receptortrong>. Variations trong>introng> this gene can affect a person's stature. Multiple transcript variants encodtrong>introng>g different protetrong>introng>s have been found for this gene. [provided by RefSeq, Mar 2009]
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adhesion G protetrong>introng>-coupled trong>receptortrong> G5
This gene encodes a member of the adhesion family of G-protetrong>introng> coupled trong>receptortrong>s. Members of this family are characterized by long N-termtrong>introng>i and multiple functional domatrong>introng>s. They may play a role trong>introng> the immune system as well as trong>introng> the central nervous system. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Jan 2016]
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transient trong>receptortrong> potential cation channel, subfamily C, member 1
The protetrong>introng> encoded by this gene is a membrane protetrong>introng> that can form a non-selective channel permeable to calcium and other cations. The encoded protetrong>introng> appears to be trong>introng>duced to form channels by a trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase-activated phosphatidyltrong>introng>ositol second messenger system and also by depletion of trong>introng>tracellular calcium stores. Two transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
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adhesion G protetrong>introng>-coupled trong>receptortrong> G3
Predicted to enable G protetrong>introng>-coupled trong>receptortrong> activity. trong>Introng>volved trong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway and regulation of cell migration. Located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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adhesion G protetrong>introng>-coupled trong>receptortrong> G2
This gene encodes a member of the G protetrong>introng>-coupled trong>receptortrong> family described as an epididymis-specific transmembrane protetrong>introng>. The encoded protetrong>introng> may be proteolytically processed as it contatrong>introng>s a motif shown to be a protetrong>introng> scission motif trong>introng> some members of this family (PMID: 11973329). Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
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transient trong>receptortrong> potential cation channel, subfamily C, member 7
Predicted to enable trong>introng>ositol 1,4,5 trisphosphate btrong>introng>dtrong>introng>g activity and store-operated calcium channel activity. Predicted to be trong>introng>volved trong>introng> calcium ion transmembrane transport; regulation of cytosolic calcium ion concentration; and strong>introng>gle fertilization. Predicted to be located trong>introng> membrane; nuclear envelope; and pertrong>introng>uclear region of cytoplasm. Predicted to be part of cation channel complex. Predicted to be active trong>introng> plasma membrane. Implicated trong>introng> lung cancer. [provided by Alliance of Genome Resources, Mar 2025]
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transient trong>receptortrong> potential cation channel, subfamily C, member 5
This gene belongs to the transient trong>receptortrong> family. It encodes one of the seven mammalian TRPC (transient trong>receptortrong> potential channel) protetrong>introng>s. The encoded protetrong>introng> is a multi-pass membrane protetrong>introng> and is thought to form a trong>receptortrong>-activated non-selective calcium permeant cation channel. The protetrong>introng> is active alone or as a heteromultimeric assembly with TRPC1, TRPC3, and TRPC4. It also trong>introng>teracts with multiple protetrong>introng>s trong>introng>cludtrong>introng>g calmodultrong>introng>, CABP1, enkurtrong>introng>, Na(+)-H+ exchange regulatory factor (NHERF ), trong>introng>terferon-trong>introng>duced GTP-btrong>introng>dtrong>introng>g protetrong>introng> (MX1), rtrong>introng>g ftrong>introng>ger protetrong>introng> 24 (RNF24), and SEC14 domatrong>introng> and spectrtrong>introng> repeat-contatrong>introng>trong>introng>g protetrong>introng> 1 (SESTD1). [provided by RefSeq, May 2010]
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vomeronasal 1 trong>receptortrong> 2
Predicted to enable pheromone trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway; response to pheromone; and sensory perception of chemical stimulus. Predicted to be located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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vomeronasal 1 trong>receptortrong> 3 (gene/pseudogene)
Predicted to enable pheromone trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway; response to pheromone; and sensory perception of chemical stimulus. Predicted to be located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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vomeronasal 1 trong>receptortrong> 1
Pheromones are chemical signals that elicit specific behavioral responses and physiologic alterations trong>introng> recipients of the same species. The protetrong>introng> encoded by this gene is similar to pheromone trong>receptortrong>s and is primarily localized to the olfactory mucosa. An alternate splice variant of this gene is thought to exist, but its full length nature has not been determtrong>introng>ed. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 4
Predicted to enable pheromone trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway; response to pheromone; and sensory perception of chemical stimulus. Predicted to be located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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vomeronasal 1 trong>receptortrong> 5 (gene/pseudogene)
Predicted to enable pheromone trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway and response to pheromone. Predicted to be located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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gonadotroptrong>introng>-releastrong>introng>g hormone (type 2) trong>receptortrong> 2, pseudogene
trong>Introng> non-homtrong>introng>oid primates and non-mammalian vertebrates, the gonadotroptrong>introng> releastrong>introng>g hormone 2 trong>receptortrong> gene (GnRHR2) encodes a seven-transmembrane G-protetrong>introng> coupled trong>receptortrong>. However, trong>introng> human, the correspondtrong>introng>g readtrong>introng>g frame contatrong>introng>s a premature stop codon, which has been suggested to encode a selenocystetrong>introng>e residue, but there is no solid evidence for selenocystetrong>introng>e trong>introng>corporation (PMID: 12538601). It appears that the human GnRHR2 transcription occurs but the gene does not likely produce a functional multi-transmembrane protetrong>introng>. A non-transcribed pseudogene of GnRHR2 is located on chromosome 14. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2013]
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olfactory trong>receptortrong>, family 5, subfamily M, member 5 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily T, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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G protetrong>introng>-coupled trong>receptortrong> 39
This gene is a member of the ghreltrong>introng> trong>receptortrong> family and encodes a rhodopstrong>introng>-type G-protetrong>introng>-coupled trong>receptortrong> (GPCR). The encoded protetrong>introng> is trong>introng>volved trong>introng> ztrong>introng>c-dependent signaltrong>introng>g trong>introng> epithelial tissue trong>introng> trong>introng>testtrong>introng>es, prostate and salivary glands. The protetrong>introng> may also be trong>introng>volved trong>introng> the pathophysiology of depression. [provided by RefSeq, Jun 2016]
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G protetrong>introng>-coupled trong>receptortrong> 31
Enables G protetrong>introng>-coupled trong>receptortrong> activity and arachidonate btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway and response to acidic pH. Located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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G protetrong>introng>-coupled trong>receptortrong> 33 (gene/pseudogene)
This gene has been identified as an orphan chemoattractant G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) pseudogene. Studies have shown that the trong>introng>activated gene is present as the predomtrong>introng>ant allele trong>introng> the human population. A small fraction of the human population has been found to harbor an trong>introng>tact allele.[provided by RefSeq, Oct 2010]
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G protetrong>introng>-coupled trong>receptortrong> 32
This gene is trong>introng>tronless and encodes a member of the G-protetrong>introng> coupled trong>receptortrong> 1 family. The encoded protetrong>introng> btrong>introng>ds to resolvtrong>introng> D1 and lipoxtrong>introng> A4 and has been ltrong>introng>ked to pulmonary trong>introng>flammation. A related pseudogene has been identified on chromosome 19. [provided by RefSeq, Nov 2012]
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G protetrong>introng>-coupled trong>receptortrong> 35
Enables C-X-C chemoktrong>introng>e trong>receptortrong> activity. trong>Introng>volved trong>introng> chemoktrong>introng>e-mediated signaltrong>introng>g pathway; negative regulation of voltage-gated calcium channel activity; and positive regulation of cytosolic calcium ion concentration. Located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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G protetrong>introng>-coupled trong>receptortrong> 34
G protetrong>introng>-coupled trong>receptortrong>s (GPCRs), such as GPR34, are trong>introng>tegral membrane protetrong>introng>s contatrong>introng>trong>introng>g 7 putative transmembrane domatrong>introng>s (TMs). These protetrong>introng>s mediate signals to the trong>introng>terior of the cell via activation of heterotrimeric G protetrong>introng>s that trong>introng> turn activate various effector protetrong>introng>s, ultimately resulttrong>introng>g trong>introng> a physiologic response.[supplied by OMIM, Apr 2006]
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G protetrong>introng>-coupled trong>receptortrong> 36
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trong>receptortrong>-trong>introng>teracttrong>introng>g sertrong>introng>e-threontrong>introng>e ktrong>introng>ase 4
The protetrong>introng> encoded by this gene is a sertrong>introng>e/threontrong>introng>e protetrong>introng> ktrong>introng>ase that trong>introng>teracts with protetrong>introng> ktrong>introng>ase C-delta. The encoded protetrong>introng> can also activate NFkappaB and is required for kerattrong>introng>ocyte differentiation. This ktrong>introng>ase undergoes autophosphorylation. [provided by RefSeq, Jul 2008]
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trace amtrong>introng>e associated trong>receptortrong> 4, pseudogene
Predicted to enable 2-phenylethylamtrong>introng>e trong>receptortrong> activity and trace-amtrong>introng>e trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> behavioral fear response; chemosensory behavior; and sensory perception of chemical stimulus. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong>, family 1, subfamily K, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 28 pseudogene
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taste trong>receptortrong>, type 2, member 6, pseudogene
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olfactory trong>receptortrong>, family 3, subfamily D, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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Fc trong>receptortrong>-like 6 pseudogene 1
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IGF-like family trong>receptortrong> 1
Located trong>introng> nucleoplasm and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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taste trong>receptortrong>, type 2, member 60
This gene encodes a member of the bitter taste trong>receptortrong> family which belong to the G protetrong>introng>-coupled trong>receptortrong> superfamily and are predomtrong>introng>antly expressed trong>introng> taste trong>receptortrong> cells of the tongue and palate epithelia. This trong>introng>tronless taste trong>receptortrong> gene encodes a seven-transmembrane trong>receptortrong> protetrong>introng>, functiontrong>introng>g as a bitter taste trong>receptortrong>. This gene is clustered together with eight other taste trong>receptortrong> genes on chromosome 7. [provided by RefSeq, Jul 2017]
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leukotriene B4 trong>receptortrong> 2
Predicted to enable G protetrong>introng>-coupled peptide trong>receptortrong> activity and leukotriene B4 trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> neuropeptide signaltrong>introng>g pathway. Predicted to act upstream of or withtrong>introng> kerattrong>introng>ocyte migration and signal transduction. Located trong>introng> nucleoplasm and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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opioid trong>receptortrong>, mu 1
This gene encodes one of at least three opioid trong>receptortrong>s trong>introng> humans; the mu opioid trong>receptortrong> (MOR). The MOR is the prtrong>introng>cipal target of endogenous opioid peptides and opioid analgesic agents such as trong>betatrong>-endorphtrong>introng> and enkephaltrong>introng>s. The MOR also has an important role trong>introng> dependence to other drugs of abuse, such as nicottrong>introng>e, cocatrong>introng>e, and alcohol via its modulation of the dopamtrong>introng>e system. The NM_001008503.2:c.118A>G allele has been associated with opioid and alcohol addiction and variations trong>introng> patrong>introng> sensitivity but evidence for it havtrong>introng>g a causal role is conflicttrong>introng>g. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. Though the canonical MOR belongs to the superfamily of 7-transmembrane-spanntrong>introng>g G-protetrong>introng>-coupled trong>receptortrong>s some isoforms of this gene have only 6 transmembrane domatrong>introng>s. [provided by RefSeq, Oct 2013]
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poliovirus trong>receptortrong> related immunoglobultrong>introng> domatrong>introng> contatrong>introng>trong>introng>g 2, pseudogene
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argtrong>introng>trong>introng>e vasopresstrong>introng> trong>receptortrong> 1B
The protetrong>introng> encoded by this gene acts as trong>receptortrong> for argtrong>introng>trong>introng>e vasopresstrong>introng>. This trong>receptortrong> belongs to the subfamily of G-protetrong>introng> coupled trong>receptortrong>s which trong>introng>cludes AVPR1A, V2R and OXT trong>receptortrong>s. Its activity is mediated by G protetrong>introng>s which stimulate a phosphatidyltrong>introng>ositol-calcium second messenger system. The trong>receptortrong> is primarily located trong>introng> the anterior pituitary, where it stimulates ACTH release. It is expressed at high levels trong>introng> ACTH-secrettrong>introng>g pituitary adenomas as well as trong>introng> bronchial carctrong>introng>oids responsible for the ectopic ACTH syndrome. A spliced antisense transcript of this gene has been reported but its function is not known. [provided by RefSeq, Jul 2008]
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argtrong>introng>trong>introng>e vasopresstrong>introng> trong>receptortrong> 1A
The protetrong>introng> encoded by this gene acts as trong>receptortrong> for argtrong>introng>trong>introng>e vasopresstrong>introng>. This trong>receptortrong> belongs to the subfamily of G-protetrong>introng> coupled trong>receptortrong>s which trong>introng>cludes AVPR1B, V2R and OXT trong>receptortrong>s. Its activity is mediated by G protetrong>introng>s which stimulate a phosphatidyltrong>introng>ositol-calcium second messenger system. The trong>receptortrong> mediates cell contraction and proliferation, platelet aggregation, release of coagulation factor and glycogenolysis. [provided by RefSeq, Jul 2008]
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melantrong>introng>-concentrattrong>introng>g hormone trong>receptortrong> 2
Predicted to enable G protetrong>introng>-coupled peptide trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> neuropeptide signaltrong>introng>g pathway. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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melantrong>introng>-concentrattrong>introng>g hormone trong>receptortrong> 1
The protetrong>introng> encoded by this gene, a member of the G protetrong>introng>-coupled trong>receptortrong> family 1, is an trong>introng>tegral plasma membrane protetrong>introng> which btrong>introng>ds melantrong>introng>-concentrattrong>introng>g hormone. The encoded protetrong>introng> can trong>introng>hibit cAMP accumulation and stimulate trong>introng>tracellular calcium flux, and is probably trong>introng>volved trong>introng> the neuronal regulation of food consumption. Although structurally similar to somatostattrong>introng> trong>receptortrong>s, this protetrong>introng> does not seem to btrong>introng>d somatostattrong>introng>. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily W, member 1 pseudogene
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olfactory trong>receptortrong>, family 7, subfamily E, member 8 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily H, member 7 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily H, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily H, member 3
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily H, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily H, member 4
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily H, member 5
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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complement component 3a trong>receptortrong> 1
C3a is an anaphylatoxtrong>introng> released durtrong>introng>g activation of the complement system. The protetrong>introng> encoded by this gene is an orphan G protetrong>introng>-coupled trong>receptortrong> for C3a. Btrong>introng>dtrong>introng>g of C3a by the encoded trong>receptortrong> activates chemotaxis, granule enzyme release, superoxide anion production, and bacterial opsonization. [provided by RefSeq, May 2016]
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tumor necrosis factor trong>receptortrong> superfamily, member 11a, NFKB activator
The protetrong>introng> encoded by this gene is a member of the TNF-trong>receptortrong> superfamily. This trong>receptortrong>s can trong>introng>teract with various TRAF family protetrong>introng>s, through which this trong>receptortrong> trong>introng>duces the activation of NF-kappa B and MAPK8/JNK. This trong>receptortrong> and its ligand are important regulators of the trong>introng>teraction between T cells and dendritic cells. This trong>receptortrong> is also an essential mediator for osteoclast and lymph node development. Mutations at this locus have been associated with familial expansile osteolysis, autosomal recessive osteopetrosis, and Paget disease of bone. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2012]
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tumor necrosis factor trong>receptortrong> superfamily, member 11b
The protetrong>introng> encoded by this gene is a member of the TNF-trong>receptortrong> superfamily. This protetrong>introng> is an osteoblast-secreted decoy trong>receptortrong> that functions as a negative regulator of bone resorption. This protetrong>introng> specifically btrong>introng>ds to its ligand, osteoprotegertrong>introng> ligand, both of which are key extracellular regulators of osteoclast development. Studies of the mouse counterpart also suggest that this protetrong>introng> and its ligand play a role trong>introng> lymph-node organogenesis and vascular calcification. Alternatively spliced transcript variants of this gene have been reported, but their full length nature has not been determtrong>introng>ed. [provided by RefSeq, Jul 2008]
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vomeronasal 1 trong>receptortrong> 24 pseudogene
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vomeronasal 1 trong>receptortrong> 32 pseudogene
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olfactory trong>receptortrong>, family 6, subfamily N, member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 6, subfamily N, member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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parathyroid hormone 1 trong>receptortrong>
The protetrong>introng> encoded by this gene is a member of the G-protetrong>introng> coupled trong>receptortrong> family 2. This protetrong>introng> is a trong>receptortrong> for parathyroid hormone (PTH) and for parathyroid hormone-like hormone (PTHLH). The activity of this trong>receptortrong> is mediated by G protetrong>introng>s which activate adenylyl cyclase and also a phosphatidyltrong>introng>ositol-calcium second messenger system. Defects trong>introng> this trong>receptortrong> are known to be the cause of Jansen's metaphyseal chondrodysplasia (JMC), chondrodysplasia Blomstrand type (BOCD), as well as enchodromatosis. Two transcript variants encodtrong>introng>g the same protetrong>introng> have been found for this gene. [provided by RefSeq, May 2010]
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vomeronasal 1 trong>receptortrong> 74 pseudogene
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bone morphogenetic protetrong>introng> trong>receptortrong>, type IA
The bone morphogenetic protetrong>introng> (BMP) trong>receptortrong>s are a family of transmembrane sertrong>introng>e/threontrong>introng>e ktrong>introng>ases that trong>introng>clude the type I trong>receptortrong>s BMPR1A and BMPR1B and the type II trong>receptortrong> BMPR2. These trong>receptortrong>s are also closely related to the activtrong>introng> trong>receptortrong>s, ACVR1 and ACVR2. The ligands of these trong>receptortrong>s are members of the TGF-trong>betatrong> superfamily. TGF-trong>betatrong>s and activtrong>introng>s transduce their signals through the formation of heteromeric complexes with 2 different types of sertrong>introng>e (threontrong>introng>e) ktrong>introng>ase trong>receptortrong>s: type I trong>receptortrong>s of about 50-55 kD and type II trong>receptortrong>s of about 70-80 kD. Type II trong>receptortrong>s btrong>introng>d ligands trong>introng> the absence of type I trong>receptortrong>s, but they require their respective type I trong>receptortrong>s for signaltrong>introng>g, whereas type I trong>receptortrong>s require their respective type II trong>receptortrong>s for ligand btrong>introng>dtrong>introng>g. [provided by RefSeq, Jul 2008]
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bone morphogenetic protetrong>introng> trong>receptortrong>, type IB
This gene encodes a member of the bone morphogenetic protetrong>introng> (BMP) trong>receptortrong> family of transmembrane sertrong>introng>e/threontrong>introng>e ktrong>introng>ases. The ligands of this trong>receptortrong> are BMPs, which are members of the TGF-trong>betatrong> superfamily. BMPs are trong>introng>volved trong>introng> endochondral bone formation and embryogenesis. These protetrong>introng>s transduce their signals through the formation of heteromeric complexes of 2 different types of sertrong>introng>e (threontrong>introng>e) ktrong>introng>ase trong>receptortrong>s: type I trong>receptortrong>s of about 50-55 kD and type II trong>receptortrong>s of about 70-80 kD. Type II trong>receptortrong>s btrong>introng>d ligands trong>introng> the absence of type I trong>receptortrong>s, but they require their respective type I trong>receptortrong>s for signaltrong>introng>g, whereas type I trong>receptortrong>s require their respective type II trong>receptortrong>s for ligand btrong>introng>dtrong>introng>g. Mutations trong>introng> this gene have been associated with primary pulmonary hypertension. Several transcript variants encodtrong>introng>g two different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
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olfactory trong>receptortrong>, family 6, subfamily C, member 72 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 10, subfamily J, member 8 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 2, subfamily R, member 1, pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 5, subfamily BE, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong>, family 52, subfamily Q, member 1 pseudogene
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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trong>introng>ositol 1,4,5-triphosphate trong>receptortrong> associated 2
The protetrong>introng> encode dby this gene is expressed trong>introng> a developmentally regulated manner trong>introng> lymphoid cell ltrong>introng>es and tissues. The protetrong>introng> is localized to the cytoplasmic face of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]
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nuclear trong>receptortrong> btrong>introng>dtrong>introng>g SET domatrong>introng> protetrong>introng> 3
This gene is related to the Wolf-Hirschhorn syndrome candidate-1 gene and encodes a protetrong>introng> with PWWP (proltrong>introng>e-tryptophan-tryptophan-proltrong>introng>e) domatrong>introng>s. This protetrong>introng> methylates histone H3 at lystrong>introng>e residues 4 and 27, which represses gene transcription. Two alternatively spliced variants have been described. [provided by RefSeq, May 2015]
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nuclear trong>receptortrong> btrong>introng>dtrong>introng>g SET domatrong>introng> protetrong>introng> 2
This gene encodes a protetrong>introng> that contatrong>introng>s four domatrong>introng>s present trong>introng> other developmental protetrong>introng>s: a PWWP domatrong>introng>, an HMG box, a SET domatrong>introng>, and a PHD-type ztrong>introng>c ftrong>introng>ger. It is expressed ubiquitously trong>introng> early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been trong>introng>volved trong>introng> the chromosomal translocation t(4;14)(p16.3;q32.3) trong>introng> multiple myelomas. Alternative splictrong>introng>g of this gene results trong>introng> multiple transcript variants encodtrong>introng>g different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. [provided by RefSeq, Jul 2008]
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G protetrong>introng>-coupled trong>receptortrong> ktrong>introng>ase 2
This gene encodes a member of the G protetrong>introng>-coupled trong>receptortrong> ktrong>introng>ase family of protetrong>introng>s. The encoded protetrong>introng> phosphorylates the trong>betatrong>-adrenergic trong>receptortrong> as well as a wide range of other substrates trong>introng>cludtrong>introng>g non-GPCR cell surface trong>receptortrong>s, and cytoskeletal, mitochondrial, and transcription factor protetrong>introng>s. Data from rodent models supports a role for this gene trong>introng> embryonic development, heart function and metabolism. Elevated expression of this gene has been observed trong>introng> human patients with heart failure and Alzheimer's disease. [provided by RefSeq, Sep 2017]
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SRP trong>receptortrong> subunit alpha
The gene encodes a subunit of the endoplasmic reticulum signal recognition particle trong>receptortrong> that, trong>introng> conjunction with the signal recognition particle, is trong>introng>volved trong>introng> the targettrong>introng>g and translocation of signal sequence tagged secretory and membrane protetrong>introng>s across the endoplasmic reticulum. Alternative splictrong>introng>g results trong>introng> multiple transcript variants. [provided by RefSeq, Apr 2010]
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V-set immunoregulatory trong>receptortrong>
Enables endopeptidase activator activity; enzyme btrong>introng>dtrong>introng>g activity; and identical protetrong>introng> btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g negative regulation of cytoktrong>introng>e production; positive regulation of metabolic process; and regulation of T cell activation. Located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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trong>receptortrong> for activated C ktrong>introng>ase 1
Enables several functions, trong>introng>cludtrong>introng>g cycltrong>introng> btrong>introng>dtrong>introng>g activity; enzyme btrong>introng>dtrong>introng>g activity; and protetrong>introng> domatrong>introng> specific btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g regulation of protetrong>introng> metabolic process; regulation of signal transduction; and regulation of vesicle-mediated transport. Located trong>introng> several cellular components, trong>introng>cludtrong>introng>g midbody; pertrong>introng>uclear region of cytoplasm; and phagocytic cup. Part of IRE1-RACK1-PP2A complex. [provided by Alliance of Genome Resources, Mar 2025]
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G protetrong>introng>-coupled trong>receptortrong> ktrong>introng>ase 3
The trong>betatrong>-adrenergic trong>receptortrong> ktrong>introng>ase specifically phosphorylates the agonist-occupied form of the trong>betatrong>-adrenergic and related G protetrong>introng>-coupled trong>receptortrong>s. Overall, the trong>betatrong> adrenergic trong>receptortrong> ktrong>introng>ase 2 has 85% amtrong>introng>o acid similarity with trong>betatrong> adrenergic trong>receptortrong> ktrong>introng>ase 1, with the protetrong>introng> ktrong>introng>ase catalytic domatrong>introng> havtrong>introng>g 95% similarity. These data suggest the existence of a family of trong>receptortrong> ktrong>introng>ases which may serve broadly to regulate trong>receptortrong> function. [provided by RefSeq, Jul 2008]
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leukocyte immunoglobultrong>introng>-like trong>receptortrong> subfamily B member 3
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olfactory trong>receptortrong> 2A1/2A42
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olfactory trong>receptortrong> family 4 subfamily M member 2B
Predicted to enable olfactory trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway and detection of chemical stimulus trong>introng>volved trong>introng> sensory perception of smell. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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G protetrong>introng>-coupled trong>receptortrong> associated sorttrong>introng>g protetrong>introng> family member 3
This gene is a member of a gene family which encodes protetrong>introng>s with a basic helix-loop-helix domatrong>introng>. Other members of this gene family encode protetrong>introng>s which function as transcription factors, either enhanctrong>introng>g or trong>introng>hibittrong>introng>g transcription dependtrong>introng>g on the activity of other DNA btrong>introng>dtrong>introng>g protetrong>introng>s. The codtrong>introng>g region of this gene is located entirely withtrong>introng> the termtrong>introng>al exon. The encoded protetrong>introng> may be trong>introng>volved trong>introng> the survival of neurons (PMID: 15034937). Multiple alternatively spliced variants, encodtrong>introng>g the same protetrong>introng>, have been identified. [provided by RefSeq, Sep 2011]
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membrane trong>introng>tegral NOTCH2 associated trong>receptortrong> 1
trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g negative regulation of TOR signaltrong>introng>g; negative regulation of angiogenesis; and negative regulation of protetrong>introng> ubiquittrong>introng>ation. Located trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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hemojuveltrong>introng> BMP co-trong>receptortrong>
The product of this gene is trong>introng>volved trong>introng> iron metabolism. It may be a component of the signaltrong>introng>g pathway which activates hepcidtrong>introng> or it may act as a modulator of hepcidtrong>introng> expression. It could also represent the cellular trong>receptortrong> for hepcidtrong>introng>. Two uORFs trong>introng> the 5' UTR negatively regulate the expression and activity of the encoded protetrong>introng>. Alternatively spliced transcript variants encodtrong>introng>g different isoforms have been identified for this gene. Defects trong>introng> this gene are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulttrong>introng>g trong>introng> hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurrtrong>introng>g typically before age of 30. [provided by RefSeq, Oct 2015]
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membrane trong>introng>tegral NOTCH2 associated trong>receptortrong> 2
Enables cholesterol btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> angiogenesis. Located trong>introng> endoplasmic reticulum. Implicated trong>introng> autosomal recessive nonsyndromic deafness. [provided by Alliance of Genome Resources, Mar 2025]
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trong>introng>ositol 1,4,5-triphosphate trong>receptortrong> associated 1
This gene is similar to a putative mouse tumor suppressor gene (Mrvi1) that is frequently disrupted by mouse AIDS-related virus (MRV). The encoded protetrong>introng>, which is found trong>introng> the membrane of the endoplasmic reticulum, is similar to Jaw1, a lymphoid-restricted protetrong>introng> whose expression is down-regulated durtrong>introng>g lymphoid differentiation. This protetrong>introng> is a substrate of cGMP-dependent ktrong>introng>ase-1 (PKG1) that can function as a regulator of IP3-trong>introng>duced calcium release. Studies trong>introng> mouse suggest that MRV trong>introng>tegration at Mrvi1 trong>introng>duces myeloid leukemia by altertrong>introng>g the expression of a gene important for myeloid cell growth and/or differentiation, and thus this gene may function as a myeloid leukemia tumor suppressor gene. Several alternatively spliced transcript variants encodtrong>introng>g different isoforms have been found for this gene, and alternative translation start sites, trong>introng>cludtrong>introng>g a non-AUG (CUG) start site, are used. [provided by RefSeq, May 2011]
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megakaryocyte and platelet trong>introng>hibitory trong>receptortrong> G6b
This gene is a member of the immunoglobultrong>introng> (Ig) superfamily and is located trong>introng> the major histocompatibility complex (MHC) class III region. The protetrong>introng> encoded by this gene is a glycosylated, plasma membrane-bound cell surface trong>receptortrong>, but soluble isoforms encoded by some transcript variants have been found trong>introng> the endoplasmic reticulum and Golgi before betrong>introng>g secreted. Multiple transcript variants encodtrong>introng>g different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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G protetrong>introng>-coupled trong>receptortrong> 141B, pseudogene
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trace amtrong>introng>e associated trong>receptortrong> 3, pseudogene
Predicted to enable trace-amtrong>introng>e trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway and sensory perception of chemical stimulus. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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chemertrong>introng> chemoktrong>introng>e-like trong>receptortrong> 2
Enables adipoktrong>introng>etic hormone btrong>introng>dtrong>introng>g activity and adipoktrong>introng>etic hormone trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> glucose homeostasis and neuropeptide signaltrong>introng>g pathway. Located trong>introng> nucleoplasm and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong> family 52 subfamily P member 1 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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G protetrong>introng>-coupled trong>receptortrong> 15 ligand
Enables chemoktrong>introng>e activity. trong>Introng>volved trong>introng> several processes, trong>introng>cludtrong>introng>g defense response to other organism; mast cell degranulation; and negative regulation of cell cycle G1/S phase transition. Located trong>introng> extracellular region. [provided by Alliance of Genome Resources, Mar 2025]
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neuropeptide Y trong>receptortrong> Y4-2
Enables pancreatic polypeptide trong>receptortrong> activity and peptide hormone btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway. Located trong>introng> membrane. [provided by Alliance of Genome Resources, Mar 2025]
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steroid trong>receptortrong> associated and regulated protetrong>introng>
Enables nuclear estrogen trong>receptortrong> btrong>introng>dtrong>introng>g activity. trong>Introng>volved trong>introng> positive regulation of trong>introng>tracellular estrogen trong>receptortrong> signaltrong>introng>g pathway. Located trong>introng> cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]
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Fc gamma trong>receptortrong> Ic, pseudogene
The gene represents one of three related immunoglobultrong>introng> gamma Fc trong>receptortrong> genes located on chromosome 1. This family member lacks the transmembrane and coiled-coiled domatrong>introng>s found trong>introng> other family members and is thought to be a pseudogene of Fc-gamma-trong>receptortrong> 1A. [provided by RefSeq, Apr 2009]
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androgen trong>receptortrong> regulated long noncodtrong>introng>g RNA 1
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prostaglandtrong>introng> E trong>receptortrong> 4 pseudogene 2
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Fc gamma trong>receptortrong> Ib, pseudogene
Three disttrong>introng>ct, but closely related classes of trong>receptortrong>s that btrong>introng>d the Fc portion of IgG have been identified (Fcgamma RI, II and III). The FcgammaRI family consists of three closely related genes termed A, B, and C. This gene likely encodes a non-functional protetrong>introng> that is not detectable at the cell surface and btrong>introng>ds ligand with low afftrong>introng>ity. [provided by RefSeq, Nov 2019]
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leukocyte immunoglobultrong>introng>-like trong>receptortrong> subfamily B member 3
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olfactory trong>receptortrong> family 8 subfamily U member 3
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. This olfactory trong>receptortrong> gene is a segregattrong>introng>g pseudogene, where some trong>introng>dividuals have an allele that encodes a functional olfactory trong>receptortrong>, while other trong>introng>dividuals have an allele encodtrong>introng>g a protetrong>introng> that is predicted to be non-functional. [provided by RefSeq, Jun 2015]
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olfactory trong>receptortrong> family 4 subfamily N member 4C
Predicted to enable olfactory trong>receptortrong> activity. Predicted to be trong>introng>volved trong>introng> G protetrong>introng>-coupled trong>receptortrong> signaltrong>introng>g pathway and detection of chemical stimulus trong>introng>volved trong>introng> sensory perception of smell. Predicted to be located trong>introng> membrane. Predicted to be active trong>introng> plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
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olfactory trong>receptortrong> family 8 subfamily G member 3 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong> family 2 subfamily I member 1 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong> family 2 subfamily B member 8 (gene/pseudogene)
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong> 2A7
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low afftrong>introng>ity immunoglobultrong>introng> gamma Fc region trong>receptortrong> III-B
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olfactory trong>receptortrong> family 5 subfamily BS member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong> family 51 subfamily C member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong> family 14 subfamily L member 1
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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olfactory trong>receptortrong> 4N4
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olfactory trong>receptortrong> family 56 subfamily B member 2
Olfactory trong>receptortrong>s trong>introng>teract with odorant molecules trong>introng> the nose, to trong>introng>itiate a neuronal response that triggers the perception of a smell. The olfactory trong>receptortrong> protetrong>introng>s are members of a large family of G-protetrong>introng>-coupled trong>receptortrong>s (GPCR) aristrong>introng>g from strong>introng>gle codtrong>introng>g-exon genes. Olfactory trong>receptortrong>s share a 7-transmembrane domatrong>introng> structure with many neurotransmitter and hormone trong>receptortrong>s and are responsible for the recognition and G protetrong>introng>-mediated transduction of odorant signals. The olfactory trong>receptortrong> gene family is the largest trong>introng> the genome. [provided by RefSeq, Jul 2008]
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dopamtrong>introng>e trong>receptortrong> trong>introng>teracttrong>introng>g protetrong>introng> 1
Predicted to act upstream of or withtrong>introng> with a positive effect on NMDA selective glutamate trong>receptortrong> signaltrong>introng>g pathway and cAMP-mediated signaltrong>introng>g. Predicted to act upstream of or withtrong>introng> several processes, trong>introng>cludtrong>introng>g G protetrong>introng>-coupled dopamtrong>introng>e trong>receptortrong> signaltrong>introng>g pathway; memory; and neurogenesis. [provided by Alliance of Genome Resources, Mar 2025]
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atypical chemoktrong>introng>e trong>receptortrong> 5
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olfactory trong>receptortrong> family 1 subfamily R member 1
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olfactory trong>receptortrong> family 9 subfamily H member 1 pseudogene (gene/pseudogene)
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olfactory trong>receptortrong> family 5 subfamily D member 3
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mitochondrial import trong>receptortrong> subunit TOM7 homolog
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trong>introng>terleuktrong>introng> 36 trong>receptortrong>
The protetrong>introng> encoded by this gene is a member of the trong>introng>terleuktrong>introng> 1 trong>receptortrong> family. An experiment with transient gene expression demonstrated that this trong>receptortrong> was trong>introng>capable of btrong>introng>dtrong>introng>g to trong>introng>terleuktrong>introng> 1 alpha and trong>introng>terleuktrong>introng> 1 trong>betatrong> with high afftrong>introng>ity. This gene and four other trong>introng>terleuktrong>introng> 1 trong>receptortrong> family genes, trong>introng>cludtrong>introng>g trong>introng>terleuktrong>introng> 1 trong>receptortrong>, type I (IL1R1), trong>introng>terleuktrong>introng> 1 trong>receptortrong>, type II (IL1R2), trong>introng>terleuktrong>introng> 1 trong>receptortrong>-like 1 (IL1RL1), and trong>introng>terleuktrong>introng> 18 trong>receptortrong> 1 (IL18R1), form a cytoktrong>introng>e trong>receptortrong> gene cluster trong>introng> a region mapped to chromosome 2q12. [provided by RefSeq, Jul 2008]
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trong>introng>terleuktrong>introng> 33 trong>receptortrong>
The protetrong>introng> encoded by this gene is a member of the trong>introng>terleuktrong>introng> 1 trong>receptortrong> family. Studies of the similar gene trong>introng> mouse suggested that this trong>receptortrong> can be trong>introng>duced by protrong>introng>flammatory stimuli, and may be trong>introng>volved trong>introng> the function of helper T cells. This gene, trong>introng>terleuktrong>introng> 1 trong>receptortrong>, type I (IL1R1), trong>introng>terleuktrong>introng> 1 trong>receptortrong>, type II (IL1R2) and trong>introng>terleuktrong>introng> 1 trong>receptortrong>-like 2 (IL1RL2) form a cytoktrong>introng>e trong>receptortrong> gene cluster trong>introng> a region mapped to chromosome 2q12. Alternative splictrong>introng>g of this gene results trong>introng> multiple transcript variants. [provided by RefSeq, Jul 2008]
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From Biocarta Pathways
protetrong>introng>s participattrong>introng>g trong>introng> the trong>il-2trong> trong>receptortrong> trong>betatrong> trong>chatrong>introng>trong> trong>introng> t cell activation pathway from the Biocarta Pathways dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the trong>Introng>terferon alpha/trong>betatrong> trong>receptortrong>, trong>betatrong> trong>chatrong>introng>trong> protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From MPO Gene-Phenotype Associations
gene mutations caustrong>introng>g the abnormal t cell trong>receptortrong> trong>betatrong> trong>chatrong>introng>trong> v(d)j recombtrong>introng>ation phenotype trong>introng> transgenic mice from the MPO Gene-Phenotype Associations dataset.
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From MGI Mouse Phenotype Associations 2023
gene mutations caustrong>introng>g the abnormal T cell trong>receptortrong> trong>betatrong> trong>chatrong>introng>trong> V(D)J recombtrong>introng>ation phenotype trong>introng> transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
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From CORUM Protein Complexes
protetrong>introng>s trong>introng> the TGF-trong>betatrong> trong>receptortrong> II-TGF-trong>betatrong> trong>receptortrong> I-TGF-trong>betatrong>3 complex protetrong>introng> complex from the CORUM Protetrong>introng> Complexes dataset.
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From CORUM Protein Complexes
protetrong>introng>s trong>introng> the TGF-trong>betatrong> trong>receptortrong> II-TGF-trong>betatrong> trong>receptortrong> I-TGF-trong>betatrong>1 complex protetrong>introng> complex from the CORUM Protetrong>introng> Complexes dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the regulation of t cell activation via t cell trong>receptortrong> contact with antigen bound to mhc molecule on antigen presenttrong>introng>g cell biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the negative regulation of t cell activation via t cell trong>receptortrong> contact with antigen bound to mhc molecule on antigen presenttrong>introng>g cell biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the positive regulation of t cell activation via t cell trong>receptortrong> contact with antigen bound to mhc molecule on antigen presenttrong>introng>g cell biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the t cell activation via t cell trong>receptortrong> contact with antigen bound to mhc molecule on antigen presenttrong>introng>g cell biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the positive regulation of T cell activation via T cell trong>receptortrong> contact with antigen bound to MHC molecule on antigen presenttrong>introng>g cell biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the T cell activation via T cell trong>receptortrong> contact with antigen bound to MHC molecule on antigen presenttrong>introng>g cell biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the negative regulation of T cell activation via T cell trong>receptortrong> contact with antigen bound to MHC molecule on antigen presenttrong>introng>g cell biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the regulation of T cell activation via T cell trong>receptortrong> contact with antigen bound to MHC molecule on antigen presenttrong>introng>g cell biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the positive regulation of T cell activation via T cell trong>receptortrong> contact with antigen bound to MHC molecule on antigen presenttrong>introng>g cell biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the T cell activation via T cell trong>receptortrong> contact with antigen bound to MHC molecule on antigen presenttrong>introng>g cell biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the negative regulation of T cell activation via T cell trong>receptortrong> contact with antigen bound to MHC molecule on antigen presenttrong>introng>g cell biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the regulation of T cell activation via T cell trong>receptortrong> contact with antigen bound to MHC molecule on antigen presenttrong>introng>g cell biological process from the curated GO Biological Process Annotations 2025 dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Cytoktrong>introng>e IL-3/IL-5/GM-CSF trong>receptortrong> common trong>betatrong> trong>chatrong>introng>trong> protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From CTD Gene-Chemical Interactions
genes/protetrong>introng>s trong>introng>teracttrong>introng>g with the chemical vasotoctrong>introng>, (trong>betatrong>-mercapto-trong>betatrong>,trong>betatrong>-cyclopentamethylenepropionic acid)-O-methyl-Tyr(2)-Thr(4)-Orn(8)-Tyr(9)-NH2 from the curated CTD Gene-Chemical trong>Introng>teractions dataset.
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From HMDB Metabolites of Enzymes
trong>introng>teracttrong>introng>g protetrong>introng>s for the Luteoltrong>introng> 7-O-[trong>betatrong>-D-glucuronosyl-(1->2)-trong>betatrong>-D-glucuronide]-4'-O-trong>betatrong>-D-glucuronide metabolite from the curated HMDB Metabolites of Enzymes dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the long-trong>chatrong>introng>trong>-(s)-2-hydroxy-long-trong>chatrong>introng>trong>-acid oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From DisGeNET Gene-Disease Associations
genes associated with the disease Long trong>Chatrong>introng>trong>/Very Long trong>Chatrong>introng>trong> Acyl Coa Dehydrogenase Deficiency trong>introng> GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
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From GAD Gene-Disease Associations
genes associated with the disease anemia, sickle cell; trong>betatrong> thalassemia; trong>betatrong>-thalassemia; sickle cell anemia trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GAD Gene-Disease Associations
genes associated with the disease anemia, sickle cell; trong>betatrong> thalassemia; trong>betatrong>-thalassemia; sickle cell anemia; thrombophilia trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GAD Gene-Disease Associations
genes associated with the disease anemia, sickle cell; trong>betatrong> thalassemia; trong>betatrong>-thalassemia; blood coagulation disorders, trong>introng>herited; sickle cell anemia; vascular diseases trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the regulation of cd8-positive, alpha-trong>betatrong> t cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the positive regulation of cd8-positive, alpha-trong>betatrong> t cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the alpha-trong>betatrong> t cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the negative regulation of cd4-positive, alpha-trong>betatrong> t cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the positive regulation of cd4-positive, alpha-trong>betatrong> t cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the positive regulation of alpha-trong>betatrong> t cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the regulation of alpha-trong>betatrong> t cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the cd8-positive, alpha-trong>betatrong> t cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the regulation of cd4-positive, alpha-trong>betatrong> t cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the alpha-trong>betatrong> t cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the negative regulation of alpha-trong>betatrong> t cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the cd4-positive, alpha-trong>betatrong> t cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the negative regulation of cd8-positive, alpha-trong>betatrong> t cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the alpha-trong>betatrong> T cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the negative regulation of CD8-positive, alpha-trong>betatrong> T cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the negative regulation of CD4-positive, alpha-trong>betatrong> T cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the regulation of CD8-positive, alpha-trong>betatrong> T cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the positive regulation of CD4-positive, alpha-trong>betatrong> T cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the CD8-positive, alpha-trong>betatrong> T cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the positive regulation of CD8-positive, alpha-trong>betatrong> T cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the regulation of CD4-positive, alpha-trong>betatrong> T cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the CD4-positive, alpha-trong>betatrong> T cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the negative regulation of alpha-trong>betatrong> T cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the regulation of alpha-trong>betatrong> T cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the positive regulation of alpha-trong>betatrong> T cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the negative regulation of CD8-positive, alpha-trong>betatrong> T cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the negative regulation of CD4-positive, alpha-trong>betatrong> T cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the regulation of CD8-positive, alpha-trong>betatrong> T cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the alpha-trong>betatrong> T cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the positive regulation of CD4-positive, alpha-trong>betatrong> T cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the CD8-positive, alpha-trong>betatrong> T cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the positive regulation of CD8-positive, alpha-trong>betatrong> T cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the regulation of CD4-positive, alpha-trong>betatrong> T cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the CD4-positive, alpha-trong>betatrong> T cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the negative regulation of alpha-trong>betatrong> T cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the regulation of alpha-trong>betatrong> T cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the positive regulation of alpha-trong>betatrong> T cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the activation of meiosis trong>introng>volved trong>introng> egg activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the activation of meiosis trong>introng>volved trong>introng> egg activation biological process from the curated GO Biological Process Annotations 2025 dataset.
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From MPO Gene-Phenotype Associations
gene mutations caustrong>introng>g the abnormal t cell trong>receptortrong> alpha trong>chatrong>introng>trong> v-j recombtrong>introng>ation phenotype trong>introng> transgenic mice from the MPO Gene-Phenotype Associations dataset.
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From MPO Gene-Phenotype Associations
gene mutations caustrong>introng>g the abnormal t cell trong>receptortrong> delta trong>chatrong>introng>trong> v(d)j recombtrong>introng>ation phenotype trong>introng> transgenic mice from the MPO Gene-Phenotype Associations dataset.
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From MPO Gene-Phenotype Associations
gene mutations caustrong>introng>g the abnormal t cell trong>receptortrong> gamma trong>chatrong>introng>trong> v-j recombtrong>introng>ation phenotype trong>introng> transgenic mice from the MPO Gene-Phenotype Associations dataset.
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From MGI Mouse Phenotype Associations 2023
gene mutations caustrong>introng>g the abnormal T cell trong>receptortrong> delta trong>chatrong>introng>trong> V(D)J recombtrong>introng>ation phenotype trong>introng> transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
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From MGI Mouse Phenotype Associations 2023
gene mutations caustrong>introng>g the abnormal T cell trong>receptortrong> gamma trong>chatrong>introng>trong> V-J recombtrong>introng>ation phenotype trong>introng> transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
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From MGI Mouse Phenotype Associations 2023
gene mutations caustrong>introng>g the abnormal T cell trong>receptortrong> alpha trong>chatrong>introng>trong> V-J recombtrong>introng>ation phenotype trong>introng> transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
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From Biocarta Pathways
protetrong>introng>s participattrong>introng>g trong>introng> the activation of csk by camp-dependent protetrong>introng> ktrong>introng>ase trong>introng>hibits signaltrong>introng>g through the t cell trong>receptortrong> pathway from the Biocarta Pathways dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the positive regulation of trong>introng>tegrtrong>introng> activation by cell surface trong>receptortrong> ltrong>introng>ked signal transduction biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the positive regulation of mast cell activation by Fc-epsilon trong>receptortrong> signaltrong>introng>g pathway biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the positive regulation of trong>introng>tegrtrong>introng> activation by cell surface trong>receptortrong> ltrong>introng>ked signal transduction biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the positive regulation of mast cell activation by Fc-epsilon trong>receptortrong> signaltrong>introng>g pathway biological process from the curated GO Biological Process Annotations 2025 dataset.
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From CORUM Protein Complexes
protetrong>introng>s trong>introng> the Respiratory trong>chatrong>introng>trong> complex I (trong>betatrong> subunit) mitochondrial protetrong>introng> complex from the CORUM Protetrong>introng> Complexes dataset.
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From GAD Gene-Disease Associations
genes associated with the disease defective dr trong>betatrong> 4 trong>chatrong>introng>trong> expression to the hla-drb1 gene trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Legume lecttrong>introng>, trong>betatrong> trong>chatrong>introng>trong>, Mn/Ca-btrong>introng>dtrong>introng>g site protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Fibrtrong>introng>ogen, alpha/trong>betatrong>/gamma trong>chatrong>introng>trong>, C-termtrong>introng>al globular, subdomatrong>introng> 2 protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Fibrtrong>introng>ogen, alpha/trong>betatrong>/gamma trong>chatrong>introng>trong>, C-termtrong>introng>al globular, subdomatrong>introng> 1 protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Fibrtrong>introng>ogen, alpha/trong>betatrong>/gamma trong>chatrong>introng>trong>, coiled coil domatrong>introng> protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Fibrtrong>introng>ogen, alpha/trong>betatrong>/gamma trong>chatrong>introng>trong>, C-termtrong>introng>al globular domatrong>introng> protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the MHC class II, trong>betatrong> trong>chatrong>introng>trong>, N-termtrong>introng>al protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Qutrong>introng>oprotetrong>introng> amtrong>introng>e dehydrogenase, trong>betatrong> trong>chatrong>introng>trong>-like protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the MHC class II, alpha/trong>betatrong> trong>chatrong>introng>trong>, N-termtrong>introng>al protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Methylmalonyl-CoA mutase, alpha/trong>betatrong> trong>chatrong>introng>trong>, catalytic protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From Reactome Pathways 2014
protetrong>introng>s participattrong>introng>g trong>introng> the trong>Betatrong>-oxidation of very long trong>chatrong>introng>trong> fatty acids pathway from the Reactome Pathways dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the very long-trong>chatrong>introng>trong> fatty acid trong>betatrong>-oxidation biological process from the curated GO Biological Process Annotations 2023 dataset.
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From WikiPathways Pathways 2024
protetrong>introng>s participattrong>introng>g trong>introng> the Mitochondrial long trong>chatrong>introng>trong> fatty acid trong>betatrong> oxidation pathway from the WikiPathways Pathways 2024 dataset.
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From Reactome Pathways 2024
protetrong>introng>s participattrong>introng>g trong>introng> the trong>Betatrong>-oxidation of very long trong>chatrong>introng>trong> fatty acids pathway from the Reactome Pathways 2024 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the very long-trong>chatrong>introng>trong> fatty acid trong>betatrong>-oxidation biological process from the curated GO Biological Process Annotations 2025 dataset.
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From ClinVar Gene-Phenotype Associations 2025
genes associated with the Neuromuscular disease caused by qualitative or quantitative defects of trong>betatrong>-myostrong>introng> heavy trong>chatrong>introng>trong> phenotype from the curated Cltrong>introng>Var Gene-Phenotype Associations 2025 dataset.
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From GAD Gene-Disease Associations
genes associated with the disease trong>betatrong> thalassemia; trong>betatrong>-thalassemia; heterozygous haemoglobtrong>introng> s; sickle cell trait trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GAD Gene-Disease Associations
genes associated with the disease trong>betatrong> thalassemia; trong>betatrong>-thalassemia; hemoglobtrong>introng> sc disease; heterozygous haemoglobtrong>introng> s; sickle cell trait trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GWAS Catalog SNP-Phenotype Associations
genes associated with the Breast cancer (estrogen-trong>receptortrong> negative, progesterone-trong>receptortrong> negative, and human epidermal growth factor-trong>receptortrong> negative) phenotype trong>introng> GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.
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From GWAS Catalog SNP-Phenotype Associations 2025
genes associated with the Breast cancer (estrogen-trong>receptortrong> negative, progesterone-trong>receptortrong> negative, and human epidermal growth factor-trong>receptortrong> negative) phenotype trong>introng> GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the transformtrong>introng>g growth factor trong>betatrong> activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the regulation of transformtrong>introng>g growth factor trong>betatrong> activation biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the negative regulation of transformtrong>introng>g growth factor trong>betatrong> activation biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the positive regulation of transformtrong>introng>g growth factor trong>betatrong> activation biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the transformtrong>introng>g growth factor trong>betatrong> activation biological process from the curated GO Biological Process Annotations 2023 dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Long hematopoiettrong>introng> trong>receptortrong>, strong>introng>gle trong>chatrong>introng>trong>, conserved site protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Long hematopoiettrong>introng> trong>receptortrong>, soluble alpha trong>chatrong>introng>trong>, conserved site protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From OMIM Gene-Disease Associations
genes associated with the trong>introng>terleuktrong>introng>-2 trong>receptortrong>, alpha trong>chatrong>introng>trong>, deficiency of phenotype from the curated OMIM Gene-Disease Associations dataset.
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From DGIdb Drug Targets 2026
trong>introng>teracttrong>introng>g protetrong>introng>s for the IL-2/9/15 GAMMA CHAIN RECEPTOR INHIBITOR BNZ-1 drug from theDGIdb Drug Targets 2026 dataset.
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From COMPARTMENTS Text-mining Protein Localization Evidence Scores
protetrong>introng>s co-occurtrong>introng>g with the alpha-trong>betatrong> t cell trong>receptortrong> complex cellular component trong>introng> abstracts of biomedical publications from the COMPARTMENTS Text-mtrong>introng>trong>introng>g Protetrong>introng> Localization Evidence Scores dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the regulation of metanephric mesenchymal cell migration by platelet-derived growth factor trong>receptortrong>-trong>betatrong> signaltrong>introng>g pathway biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor trong>receptortrong>-trong>betatrong> signaltrong>introng>g pathway biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Cellular Component Annotations 2015
protetrong>introng>s localized to the alpha-trong>betatrong> t cell trong>receptortrong> complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor trong>receptortrong>-trong>betatrong> signaltrong>introng>g pathway biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the regulation of metanephric mesenchymal cell migration by platelet-derived growth factor trong>receptortrong>-trong>betatrong> signaltrong>introng>g pathway biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Cellular Component Annotations 2023
protetrong>introng>s localized to the alpha-trong>betatrong> T cell trong>receptortrong> complex cellular component from the curated GO Cellular Component Annotations 2023 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor trong>receptortrong>-trong>betatrong> signaltrong>introng>g pathway biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the regulation of metanephric mesenchymal cell migration by platelet-derived growth factor trong>receptortrong>-trong>betatrong> signaltrong>introng>g pathway biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Cellular Component Annotations 2025
protetrong>introng>s localized to the alpha-trong>betatrong> T cell trong>receptortrong> complex cellular component from the curated GO Cellular Component Annotations 2025 dataset.
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From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025
protetrong>introng>s co-occurtrong>introng>g with the alpha-trong>betatrong> T cell trong>receptortrong> complex cellular component trong>introng> abstracts of biomedical publications from the COMPARTMENTS Text-mtrong>introng>trong>introng>g Protetrong>introng> Localization Evidence Scores 2025 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the activation of mapk activity by adrenergic trong>receptortrong> signaltrong>introng>g pathway biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the activation of transmembrane trong>receptortrong> protetrong>introng> tyrostrong>introng>e ktrong>introng>ase activity biological process from the curated GO Biological Process Annotations 2015 dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Smad anchor for trong>receptortrong> activation, Smad-btrong>introng>dtrong>introng>g domatrong>introng> protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From Reactome Pathways 2014
protetrong>introng>s participattrong>introng>g trong>introng> the GABA A (rho) trong>receptortrong> activation pathway from the Reactome Pathways dataset.
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From Reactome Pathways 2014
protetrong>introng>s participattrong>introng>g trong>introng> the Activation of NMDA trong>receptortrong> upon glutamate btrong>introng>dtrong>introng>g and postsynaptic events pathway from the Reactome Pathways dataset.
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From Reactome Pathways 2014
protetrong>introng>s participattrong>introng>g trong>introng> the Post NMDA trong>receptortrong> activation events pathway from the Reactome Pathways dataset.
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From Reactome Pathways 2014
protetrong>introng>s participattrong>introng>g trong>introng> the GABA trong>receptortrong> activation pathway from the Reactome Pathways dataset.
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From Reactome Pathways 2014
protetrong>introng>s participattrong>introng>g trong>introng> the Unblocktrong>introng>g of NMDA trong>receptortrong>, glutamate btrong>introng>dtrong>introng>g and activation pathway from the Reactome Pathways dataset.
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From Reactome Pathways 2014
protetrong>introng>s participattrong>introng>g trong>introng> the Ras activation uopn Ca2+ trong>introng>fux through NMDA trong>receptortrong> pathway from the Reactome Pathways dataset.
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From Reactome Pathways 2014
protetrong>introng>s participattrong>introng>g trong>introng> the Activation of Ca-permeable Katrong>introng>ate trong>Receptortrong> pathway from the Reactome Pathways dataset.
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From Reactome Pathways 2014
protetrong>introng>s participattrong>introng>g trong>introng> the GABA A trong>receptortrong> activation pathway from the Reactome Pathways dataset.
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From Reactome Pathways 2014
protetrong>introng>s participattrong>introng>g trong>introng> the GABA B trong>receptortrong> activation pathway from the Reactome Pathways dataset.
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From WikiPathways Pathways 2014
protetrong>introng>s participattrong>introng>g trong>introng> the Nanoparticle-mediated activation of trong>receptortrong> signaltrong>introng>g(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the activation of transmembrane trong>receptortrong> protetrong>introng> tyrostrong>introng>e ktrong>introng>ase activity biological process from the curated GO Biological Process Annotations 2023 dataset.
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From WikiPathways Pathways 2024
protetrong>introng>s participattrong>introng>g trong>introng> the Nanoparticle mediated activation of trong>receptortrong> signaltrong>introng>g pathway from the WikiPathways Pathways 2024 dataset.
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From Reactome Pathways 2024
protetrong>introng>s participattrong>introng>g trong>introng> the Activation of Ca-permeable Katrong>introng>ate trong>Receptortrong> pathway from the Reactome Pathways 2024 dataset.
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From Reactome Pathways 2024
protetrong>introng>s participattrong>introng>g trong>introng> the CREB1 phosphorylation through NMDA trong>receptortrong>-mediated activation of RAS signaltrong>introng>g pathway from the Reactome Pathways 2024 dataset.
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From Reactome Pathways 2024
protetrong>introng>s participattrong>introng>g trong>introng> the FGFR1 mutant trong>receptortrong> activation pathway from the Reactome Pathways 2024 dataset.
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From Reactome Pathways 2024
protetrong>introng>s participattrong>introng>g trong>introng> the FGFR2 mutant trong>receptortrong> activation pathway from the Reactome Pathways 2024 dataset.
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From Reactome Pathways 2024
protetrong>introng>s participattrong>introng>g trong>introng> the FGFR3 mutant trong>receptortrong> activation pathway from the Reactome Pathways 2024 dataset.
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From Reactome Pathways 2024
protetrong>introng>s participattrong>introng>g trong>introng> the FGFR4 mutant trong>receptortrong> activation pathway from the Reactome Pathways 2024 dataset.
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From Reactome Pathways 2024
protetrong>introng>s participattrong>introng>g trong>introng> the GABA B trong>receptortrong> activation pathway from the Reactome Pathways 2024 dataset.
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From Reactome Pathways 2024
protetrong>introng>s participattrong>introng>g trong>introng> the GABA trong>receptortrong> activation pathway from the Reactome Pathways 2024 dataset.
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From Reactome Pathways 2024
protetrong>introng>s participattrong>introng>g trong>introng> the MET trong>Receptortrong> Activation pathway from the Reactome Pathways 2024 dataset.
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From Reactome Pathways 2024
protetrong>introng>s participattrong>introng>g trong>introng> the Post NMDA trong>receptortrong> activation events pathway from the Reactome Pathways 2024 dataset.
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From Reactome Pathways 2024
protetrong>introng>s participattrong>introng>g trong>introng> the Ras activation upon Ca2+ trong>introng>flux through NMDA trong>receptortrong> pathway from the Reactome Pathways 2024 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the activation of transmembrane trong>receptortrong> protetrong>introng> tyrostrong>introng>e ktrong>introng>ase activity biological process from the curated GO Biological Process Annotations 2025 dataset.
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From KEGG Pathways 2026
protetrong>introng>s participattrong>introng>g trong>introng> the Chemical carctrong>introng>ogenesis - trong>receptortrong> activation pathway from the KEGG Pathways 2026 dataset.
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From CORUM Protein Complexes
protetrong>introng>s trong>introng> the Axtrong>introng>-PP2A A-PP2A C-GSK3-trong>betatrong>-trong>betatrong>-catentrong>introng> complex protetrong>introng> complex from the CORUM Protetrong>introng> Complexes dataset.
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From CTD Gene-Chemical Interactions
genes/protetrong>introng>s trong>introng>teracttrong>introng>g with the chemical 5-O-methyl-(E)-resveratrol-3-O-trong>betatrong>-D-apiofuranosyl-(1-6)-trong>betatrong>-D-glucopyranoside from the curated CTD Gene-Chemical trong>Introng>teractions dataset.
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From CTD Gene-Chemical Interactions
genes/protetrong>introng>s trong>introng>teracttrong>introng>g with the chemical cholesterol-3-trong>betatrong>,5-alpha, 6-trong>betatrong>-triol from the curated CTD Gene-Chemical trong>Introng>teractions dataset.
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From DrugBank Drug Targets
trong>introng>teracttrong>introng>g protetrong>introng>s for the 2-ACETAMIDO-2-DEOXY-BETA-D-GLUCOPYRANOSE(BETA1-4)-2-ACETAMIDO-1,6-ANHYDRO-3-O-[(R)-1-CARBOXYETHYL]-2-DEOXY-BETA-D-GLUCOPYRANOSE-L-ALANYL-GAMMA-D-GLUTAMYL-MESO-DIAMINOPIMELYL-D-ALANINE drug from the curated DrugBank Drug Targets dataset.
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From GAD Gene-Disease Associations
genes associated with the disease trong>betatrong> thalassemia; trong>betatrong>-thalassemia; overweight trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GAD Gene-Disease Associations
genes associated with the disease trong>betatrong> thalassemia; trong>betatrong>-thalassemia; hemochromatosis; iron overload; metal metabolism, trong>introng>born errors trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GAD Gene-Disease Associations
genes associated with the disease trong>betatrong> thalassemia; trong>betatrong>-thalassemia; hemochromatosis trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GAD Gene-Disease Associations
genes associated with the disease anemia, iron-deficiency; trong>betatrong> thalassemia; trong>betatrong>-thalassemia; iron deficiency anaemia trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GAD Gene-Disease Associations
genes associated with the disease trong>betatrong> thalassemia; trong>betatrong>-thalassemia; cardiomyopathies; iron overload trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GAD Gene-Disease Associations
genes associated with the disease trong>betatrong> thalassemia; trong>betatrong>-thalassemia; glucosephosphate dehydrogenase deficiency trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GAD Gene-Disease Associations
genes associated with the disease trong>betatrong> thalassemia; trong>betatrong>-thalassemia; graft vs host disease trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GAD Gene-Disease Associations
genes associated with the disease trong>betatrong> thalassemia; trong>betatrong>-thalassemia; osteoporosis trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GAD Gene-Disease Associations
genes associated with the disease trong>betatrong> thalassemia; trong>betatrong>-thalassemia; myocardial ischemia trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GAD Gene-Disease Associations
genes associated with the disease trong>betatrong> thalassemia; trong>betatrong>-thalassemia; iron overload trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GAD Gene-Disease Associations
genes associated with the disease trong>betatrong> thalassemia; trong>betatrong>-thalassemia; fetal diseases trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GAD Gene-Disease Associations
genes associated with the disease trong>betatrong> thalassemia; trong>betatrong>-thalassemia; ventricular dysfunction, left trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GAD Gene-Disease Associations
genes associated with the disease alpha thalassemia; alpha-thalassemia; trong>betatrong> thalassemia; trong>betatrong>-thalassemia trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GAD Gene-Disease Associations
genes associated with the disease trong>introng>terleuktrong>introng>-1 trong>betatrong> (il-1 trong>betatrong>) synthesis capacity trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GAD Gene-Disease Associations
genes associated with the disease alpha thalassemia; alpha-thalassemia; trong>betatrong> thalassemia; trong>betatrong>-thalassemia; disease progression trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GAD Gene-Disease Associations
genes associated with the disease trong>betatrong> thalassemia; trong>betatrong>-thalassemia trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GAD Gene-Disease Associations
genes associated with the disease trong>betatrong> thalassemia; trong>betatrong>-thalassemia; hepatic veno-occlusive disease trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GAD Gene-Disease Associations
genes associated with the disease trong>betatrong> thalassemia; trong>betatrong>-thalassemia; bone diseases, metabolic; osteoporosis; thalassemia trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the n-acetyl-trong>betatrong>-glucosamtrong>introng>yl-glycoprotetrong>introng> 4-trong>betatrong>-n-acetylgalactosamtrong>introng>yltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the trong>betatrong>-galactosyl-n-acetylglucosamtrong>introng>ylgalactosylglucosyl-ceramide trong>betatrong>-1,3-acetylglucosamtrong>introng>yltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the trong>betatrong>-1,3-galactosyl-o-glycosyl-glycoprotetrong>introng> trong>betatrong>-1,6-n-acetylglucosamtrong>introng>yltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the cholest-5-ene-3-trong>betatrong>,7-alpha-diol 3-trong>betatrong>-dehydrogenase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the trong>betatrong>-n-acetylglucosamtrong>introng>ylglycopeptide trong>betatrong>-1,4-galactosyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the trong>betatrong>-1,4-mannosylglycoprotetrong>introng> 4-trong>betatrong>-n-acetylglucosamtrong>introng>yltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the trong>betatrong>-1,3-galactosyl-o-glycosyl-glycoprotetrong>introng> trong>betatrong>-1,3-n-acetylglucosamtrong>introng>yltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the udp-galactose:trong>betatrong>-n-acetylglucosamtrong>introng>e trong>betatrong>-1,3-galactosyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GWAS Catalog SNP-Phenotype Associations
genes associated with the &trong>betatrong>;2-Glycoprotetrong>introng> I (&trong>betatrong>;2-GPI) plasma levels phenotype trong>introng> GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.
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From HMDB Metabolites of Enzymes
trong>introng>teracttrong>introng>g protetrong>introng>s for the 16-alpha,17-trong>betatrong>-estriol 17-trong>betatrong>-D-glucuronide metabolite from the curated HMDB Metabolites of Enzymes dataset.
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From HMDB Metabolites of Enzymes
trong>introng>teracttrong>introng>g protetrong>introng>s for the 17-trong>betatrong>-estradiol 3-sulfate-17-(trong>betatrong>-D-glucuronide) metabolite from the curated HMDB Metabolites of Enzymes dataset.
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From HMDB Metabolites of Enzymes
trong>introng>teracttrong>introng>g protetrong>introng>s for the Luteoltrong>introng> 7-O-[trong>betatrong>-D-glucuronosyl-(1->2)-trong>betatrong>-D-glucuronide] metabolite from the curated HMDB Metabolites of Enzymes dataset.
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From HMDB Metabolites of Enzymes
trong>introng>teracttrong>introng>g protetrong>introng>s for the 4-trong>betatrong>-Hydroxymethyl-4-alpha-methyl-5-alpha-cholest-7-en-3-trong>betatrong>-ol metabolite from the curated HMDB Metabolites of Enzymes dataset.
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From HMDB Metabolites of Enzymes
trong>introng>teracttrong>introng>g protetrong>introng>s for the 3-trong>betatrong>-Hydroxy-4-trong>betatrong>-methyl-5-alpha-cholest-7-ene-4-alpha-carboxylate metabolite from the curated HMDB Metabolites of Enzymes dataset.
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From HMDB Metabolites of Enzymes
trong>introng>teracttrong>introng>g protetrong>introng>s for the 3-trong>betatrong>-Hydroxy-4-trong>betatrong>-methyl-5-alpha-cholest-7-ene-4-alpha-carbaldehyde metabolite from the curated HMDB Metabolites of Enzymes dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Tyramtrong>introng>e trong>betatrong>-hydroxylase/Dopamtrong>introng>e trong>betatrong>-hydroxylase protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Sodium channel subunit trong>betatrong>-1/trong>betatrong>-3 protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From Reactome Pathways 2014
protetrong>introng>s participattrong>introng>g trong>introng> the G trong>betatrong>:gamma signalltrong>introng>g through PLC trong>betatrong> pathway from the Reactome Pathways dataset.
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From GO Molecular Function Annotations 2023
genes performtrong>introng>g the UDP-galactose:trong>betatrong>-N-acetylglucosamtrong>introng>e trong>betatrong>-1,3-galactosyltransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
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From GO Molecular Function Annotations 2023
genes performtrong>introng>g the trong>betatrong>-1,3-galactosyl-O-glycosyl-glycoprotetrong>introng> trong>betatrong>-1,6-N-acetylglucosamtrong>introng>yltransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
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From GO Molecular Function Annotations 2023
genes performtrong>introng>g the trong>betatrong>-N-acetylglucosamtrong>introng>ylglycopeptide trong>betatrong>-1,4-galactosyltransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
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From GO Molecular Function Annotations 2023
genes performtrong>introng>g the trong>betatrong>-1,4-mannosylglycoprotetrong>introng> 4-trong>betatrong>-N-acetylglucosamtrong>introng>yltransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
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From GO Molecular Function Annotations 2023
genes performtrong>introng>g the trong>betatrong>-1,3-galactosyl-O-glycosyl-glycoprotetrong>introng> trong>betatrong>-1,3-N-acetylglucosamtrong>introng>yltransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
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From GO Molecular Function Annotations 2023
genes performtrong>introng>g the trong>betatrong>-galactosyl-N-acetylglucosamtrong>introng>ylgalactosylglucosyl-ceramide trong>betatrong>-1,3-acetylglucosamtrong>introng>yltransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
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From GO Molecular Function Annotations 2023
genes performtrong>introng>g the trong>betatrong>,trong>betatrong>-carotene-9',10'-cleavtrong>introng>g oxygenase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
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From GO Molecular Function Annotations 2023
genes performtrong>introng>g the cholest-5-ene-3-trong>betatrong>,7-alpha-diol 3-trong>betatrong>-dehydrogenase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
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From Reactome Pathways 2024
protetrong>introng>s participattrong>introng>g trong>introng> the G trong>betatrong>:gamma signalltrong>introng>g through PLC trong>betatrong> pathway from the Reactome Pathways 2024 dataset.
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From HuBMAP ASCT+B Annotations
biomarker genes for the Large trong>introng>testtrong>introng>e_CT1_surface trong>introng>traepithelial CD8+ alph trong>betatrong> positive alpha/trong>betatrong> lymphocyte cell type from the HuBMAP ASCT+B dataset.
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From HuBMAP ASCT+B Annotations
biomarker genes for the Large trong>introng>testtrong>introng>e_CT1_surface trong>introng>traepithelial CD8+ alpha trong>betatrong> positive alpha/trong>betatrong> lymphocyte cell type from the HuBMAP ASCT+B dataset.
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From HuBMAP ASCT+B Augmented with RNA-seq Coexpression
biomarker genes for the Large trong>introng>testtrong>introng>e_CT1_surface trong>introng>traepithelial CD8+ alph trong>betatrong> positive alpha/trong>betatrong> lymphocyte cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset.
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From HuBMAP ASCT+B Augmented with RNA-seq Coexpression
biomarker genes for the Large trong>introng>testtrong>introng>e_CT1_surface trong>introng>traepithelial CD8+ alpha trong>betatrong> positive alpha/trong>betatrong> lymphocyte cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset.
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From GO Molecular Function Annotations 2025
genes performtrong>introng>g the 5-alpha-androstane-3-trong>betatrong>,17-trong>betatrong>-diol dehydrogenase (NADP+) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
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From GO Molecular Function Annotations 2025
genes performtrong>introng>g the N-acetyl-trong>betatrong>-D-glucosamtrong>introng>ide trong>betatrong>-(1,3)-galactosyltransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
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From GO Molecular Function Annotations 2025
genes performtrong>introng>g the trong>betatrong>-1,3-galactosyl-O-glycosyl-glycoprotetrong>introng> trong>betatrong>-1,6-N-acetylglucosamtrong>introng>yltransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
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From GO Molecular Function Annotations 2025
genes performtrong>introng>g the trong>betatrong>-N-acetylglucosamtrong>introng>ylglycopeptide trong>betatrong>-1,4-galactosyltransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
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From GO Molecular Function Annotations 2025
genes performtrong>introng>g the trong>betatrong>-1,4-mannosylglycoprotetrong>introng> 4-trong>betatrong>-N-acetylglucosamtrong>introng>yltransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
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From GO Molecular Function Annotations 2025
genes performtrong>introng>g the trong>betatrong>-D-galactosyl-(1->3)-N-acetyl-trong>betatrong>-D-galactosamtrong>introng>ide alpha-2,3- sialyltransferase molecular function from the curated GO Molecular Function Annotations 2025 dataset.
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From GO Molecular Function Annotations 2025
genes performtrong>introng>g the trong>betatrong>-1,3-galactosyl-O-glycosyl-glycoprotetrong>introng> trong>betatrong>-1,3-N-acetylglucosamtrong>introng>yltransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
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From GO Molecular Function Annotations 2025
genes performtrong>introng>g the trong>betatrong>,trong>betatrong>-carotene-9',10'-cleavtrong>introng>g oxygenase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
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From GO Molecular Function Annotations 2025
genes performtrong>introng>g the cholest-5-ene-3-trong>betatrong>,7-alpha-diol 3-trong>betatrong>-dehydrogenase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
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From GWAS Catalog SNP-Phenotype Associations 2025
genes associated with the trong>Betatrong> blocker survival benefit trong>introng> heart failure with reduced ejection fraction (time to all cause mortality x trong>betatrong> blocker trong>introng>teraction) phenotype trong>introng> GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
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From GWAS Catalog SNP-Phenotype Associations 2025
genes associated with the &trong>betatrong>;2-Glycoprotetrong>introng> I (&trong>betatrong>;2-GPI) plasma levels phenotype trong>introng> GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the cell surface trong>receptortrong> signaltrong>introng>g pathway trong>introng>volved trong>introng> cell-cell signaltrong>introng>g biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GAD Gene-Disease Associations
genes associated with the disease adenocarctrong>introng>oma; carctrong>introng>oma, large cell; carctrong>introng>oma, small cell; carctrong>introng>oma, squamous cell; lung neoplasms; neoplasm of lung ; small cell carctrong>introng>oma of lung; squamous cell carctrong>introng>oma trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the cerebellar purktrong>introng>je cell-granule cell precursor cell signaltrong>introng>g trong>introng>volved trong>introng> regulation of granule cell precursor cell proliferation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the cerebellar Purktrong>introng>je cell-granule cell precursor cell signaltrong>introng>g trong>introng>volved trong>introng> regulation of granule cell precursor cell proliferation biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the long-trong>chatrong>introng>trong> fatty acid import trong>introng>to cell biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the positive regulation of long-trong>chatrong>introng>trong> fatty acid import trong>introng>to cell biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the regulation of long-trong>chatrong>introng>trong> fatty acid import trong>introng>to cell biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the negative regulation of long-trong>chatrong>introng>trong> fatty acid import trong>introng>to cell biological process from the curated GO Biological Process Annotations 2023 dataset.
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From HuBMAP Azimuth Cell Type Annotations
genes associated with the Human - PBMC - L3 - trong>Introng>termediate B cell, kappa light trong>chatrong>introng>trong> cell type from the HuBMAP Azimuth Cell Type Annotations dataset.
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From HuBMAP Azimuth Cell Type Annotations
genes associated with the Human - PBMC - L3 - trong>Introng>termediate B cell, lambda light trong>chatrong>introng>trong> cell type from the HuBMAP Azimuth Cell Type Annotations dataset.
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From HuBMAP Azimuth Cell Type Annotations
genes associated with the Human - PBMC - L3 - Memory B cell, kappa light trong>chatrong>introng>trong> cell type from the HuBMAP Azimuth Cell Type Annotations dataset.
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From HuBMAP Azimuth Cell Type Annotations
genes associated with the Human - PBMC - L3 - Memory B cell, lambda light trong>chatrong>introng>trong> cell type from the HuBMAP Azimuth Cell Type Annotations dataset.
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From HuBMAP Azimuth Cell Type Annotations
genes associated with the Human - PBMC - L3 - Naive B cell, kappa light trong>chatrong>introng>trong> cell type from the HuBMAP Azimuth Cell Type Annotations dataset.
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From HuBMAP Azimuth Cell Type Annotations
genes associated with the Human - PBMC - L3 - Naive B cell, lambda light trong>chatrong>introng>trong> cell type from the HuBMAP Azimuth Cell Type Annotations dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the long-trong>chatrong>introng>trong> fatty acid import trong>introng>to cell biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the positive regulation of long-trong>chatrong>introng>trong> fatty acid import trong>introng>to cell biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the regulation of long-trong>chatrong>introng>trong> fatty acid import trong>introng>to cell biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the negative regulation of long-trong>chatrong>introng>trong> fatty acid import trong>introng>to cell biological process from the curated GO Biological Process Annotations 2025 dataset.
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From Biocarta Pathways
protetrong>introng>s participattrong>introng>g trong>introng> the cystic fibrosis transmembrane conductance regulator (cftr) and trong>betatrong> 2 adrenergic trong>receptortrong> (b2ar) pathway pathway from the Biocarta Pathways dataset.
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From COMPARTMENTS Curated Protein Localization Evidence Scores
protetrong>introng>s localized to the transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> homodimeric complex cellular component from the COMPARTMENTS Curated Protetrong>introng> Localization Evidence Scores dataset.
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From COMPARTMENTS Text-mining Protein Localization Evidence Scores
protetrong>introng>s co-occurtrong>introng>g with the transformtrong>introng>g growth factor trong>betatrong> type ii trong>receptortrong> homodimeric complex cellular component trong>introng> abstracts of biomedical publications from the COMPARTMENTS Text-mtrong>introng>trong>introng>g Protetrong>introng> Localization Evidence Scores dataset.
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From COMPARTMENTS Text-mining Protein Localization Evidence Scores
protetrong>introng>s co-occurtrong>introng>g with the transformtrong>introng>g growth factor trong>betatrong> type i trong>receptortrong> homodimeric complex cellular component trong>introng> abstracts of biomedical publications from the COMPARTMENTS Text-mtrong>introng>trong>introng>g Protetrong>introng> Localization Evidence Scores dataset.
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From COMPARTMENTS Text-mining Protein Localization Evidence Scores
protetrong>introng>s co-occurtrong>introng>g with the transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> homodimeric complex cellular component trong>introng> abstracts of biomedical publications from the COMPARTMENTS Text-mtrong>introng>trong>introng>g Protetrong>introng> Localization Evidence Scores dataset.
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From CORUM Protein Complexes
protetrong>introng>s trong>introng> the TGF-trong>betatrong>-trong>receptortrong>-PAR6 complex protetrong>introng> complex from the CORUM Protetrong>introng> Complexes dataset.
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From CORUM Protein Complexes
protetrong>introng>s trong>introng> the TGF-trong>betatrong> trong>receptortrong> II-TGF-trong>betatrong>1 complex protetrong>introng> complex from the CORUM Protetrong>introng> Complexes dataset.
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From CORUM Protein Complexes
protetrong>introng>s trong>introng> the TGF-trong>betatrong>-trong>receptortrong> II-TGF-trong>betatrong>1 complex protetrong>introng> complex from the CORUM Protetrong>introng> Complexes dataset.
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From CORUM Protein Complexes
protetrong>introng>s trong>introng> the TGF-trong>betatrong>-trong>receptortrong> type II homodimer complex protetrong>introng> complex from the CORUM Protetrong>introng> Complexes dataset.
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From CORUM Protein Complexes
protetrong>introng>s trong>introng> the Lymphotoxtrong>introng> trong>betatrong> trong>receptortrong> complex protetrong>introng> complex from the CORUM Protetrong>introng> Complexes dataset.
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From CORUM Protein Complexes
protetrong>introng>s trong>introng> the TGF-trong>betatrong> trong>receptortrong> II-TGF-trong>betatrong>3 complex protetrong>introng> complex from the CORUM Protetrong>introng> Complexes dataset.
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From CORUM Protein Complexes
protetrong>introng>s trong>introng> the TGF-trong>betatrong> trong>receptortrong> protetrong>introng> complex from the CORUM Protetrong>introng> Complexes dataset.
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From CORUM Protein Complexes
protetrong>introng>s trong>introng> the TGF-trong>betatrong> trong>receptortrong> I-Axtrong>introng>-SMAD3 complex protetrong>introng> complex from the CORUM Protetrong>introng> Complexes dataset.
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From CORUM Protein Complexes
protetrong>introng>s trong>introng> the TGF-trong>betatrong> trong>receptortrong>-SMAD3 complex protetrong>introng> complex from the CORUM Protetrong>introng> Complexes dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the regulation of transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> signaltrong>introng>g pathway biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the negative regulation of transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> signaltrong>introng>g pathway biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the regulation of platelet-derived growth factor trong>receptortrong>-trong>betatrong> signaltrong>introng>g pathway biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> signaltrong>introng>g pathway biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the positive regulation of transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> signaltrong>introng>g pathway biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the negative regulation of platelet-derived growth factor trong>receptortrong>-trong>betatrong> signaltrong>introng>g pathway biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> signaltrong>introng>g pathway trong>introng>volved trong>introng> primitive streak formation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> complex assembly biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the platelet-derived growth factor trong>receptortrong>-trong>betatrong> signaltrong>introng>g pathway biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Cellular Component Annotations 2015
protetrong>introng>s localized to the transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> homodimeric complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong>, trong>introng>hibitory cytoplasmic mediator activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong>, pathway-specific cytoplasmic mediator activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the trong>betatrong>-adrenergic trong>receptortrong> ktrong>introng>ase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong>, cytoplasmic mediator activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> activity, type ii molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong>, common-partner cytoplasmic mediator activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the trong>betatrong>-adrenergic trong>receptortrong> activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the type i transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> btrong>introng>dtrong>introng>g molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the trong>betatrong>-endorphtrong>introng> trong>receptortrong> activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the platelet-derived growth factor trong>betatrong>-trong>receptortrong> activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> activity, type i molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> btrong>introng>dtrong>introng>g molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the trong>betatrong>-1 adrenergic trong>receptortrong> btrong>introng>dtrong>introng>g molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the transformtrong>introng>g growth factor trong>betatrong>-activated trong>receptortrong> activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> activity, type iii molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the trong>betatrong>-2 adrenergic trong>receptortrong> btrong>introng>dtrong>introng>g molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the type ii transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> btrong>introng>dtrong>introng>g molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the trong>betatrong>-3 adrenergic trong>receptortrong> btrong>introng>dtrong>introng>g molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the type iii transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> btrong>introng>dtrong>introng>g molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Estrogen trong>receptortrong> trong>betatrong>, N-termtrong>introng>al protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the High afftrong>introng>ity immunoglobultrong>introng> epsilon trong>receptortrong> subunit trong>betatrong> protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Platelet-derived growth factor trong>receptortrong> trong>betatrong> protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> 2 ectodomatrong>introng> protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Glyctrong>introng>e trong>receptortrong> trong>betatrong> protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Estrogen trong>receptortrong> trong>betatrong>/gamma protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Transformtrong>introng>g growth factor-trong>betatrong> trong>receptortrong>, type II protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the TGF-trong>betatrong> family type I/II trong>receptortrong>, extracellular C-termtrong>introng>al domatrong>introng> protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the trong>Introng>terferon alpha/trong>betatrong> trong>receptortrong> 1 protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Vacuolar sorttrong>introng>g protetrong>introng> 39/Transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong>-associated domatrong>introng> 1 protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Vacuolar sorttrong>introng>g protetrong>introng> 39/Transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong>-associated domatrong>introng> 2 protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the TGF trong>betatrong> trong>receptortrong>, GS motif protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Peroxisome proliferator-activated trong>receptortrong>, trong>betatrong> protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Signal recognition particle trong>receptortrong>, trong>betatrong> subunit protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Gamma-amtrong>introng>obutyric-acid A trong>receptortrong>, trong>betatrong> subunit protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From PID Pathways
protetrong>introng>s participattrong>introng>g trong>introng> the TGF-trong>betatrong> trong>receptortrong> signaltrong>introng>g pathway from the PID Pathways dataset.
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From PID Pathways
protetrong>introng>s participattrong>introng>g trong>introng> the Validated nuclear estrogen trong>receptortrong> trong>betatrong> network pathway from the PID Pathways dataset.
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From Reactome Pathways 2014
protetrong>introng>s participattrong>introng>g trong>introng> the Signaltrong>introng>g by TGF-trong>betatrong> trong>Receptortrong> Complex pathway from the Reactome Pathways dataset.
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From Reactome Pathways 2014
protetrong>introng>s participattrong>introng>g trong>introng> the Downregulation of TGF-trong>betatrong> trong>receptortrong> signaltrong>introng>g pathway from the Reactome Pathways dataset.
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From Reactome Pathways 2014
protetrong>introng>s participattrong>introng>g trong>introng> the Signaltrong>introng>g by TGF-trong>betatrong> trong>Receptortrong> Complex trong>introng> Cancer pathway from the Reactome Pathways dataset.
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From Reactome Pathways 2014
protetrong>introng>s participattrong>introng>g trong>introng> the TGF-trong>betatrong> trong>receptortrong> signaltrong>introng>g activates SMADs pathway from the Reactome Pathways dataset.
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From Reactome Pathways 2014
protetrong>introng>s participattrong>introng>g trong>introng> the TGF-trong>betatrong> trong>receptortrong> signaltrong>introng>g trong>introng> EMT (epithelial to mesenchymal transition) pathway from the Reactome Pathways dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the positive regulation of transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> signaltrong>introng>g pathway biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the positive regulation of platelet-derived growth factor trong>receptortrong>-trong>betatrong> signaltrong>introng>g pathway biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> signaltrong>introng>g pathway biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the regulation of transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> signaltrong>introng>g pathway biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the negative regulation of transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> signaltrong>introng>g pathway biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the platelet-derived growth factor trong>receptortrong>-trong>betatrong> signaltrong>introng>g pathway biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> signaltrong>introng>g pathway trong>introng>volved trong>introng> heart development biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the negative regulation of platelet-derived growth factor trong>receptortrong>-trong>betatrong> signaltrong>introng>g pathway biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> complex assembly biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the regulation of platelet-derived growth factor trong>receptortrong>-trong>betatrong> signaltrong>introng>g pathway biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Cellular Component Annotations 2023
protetrong>introng>s localized to the transformtrong>introng>g growth factor trong>betatrong> ligand-trong>receptortrong> complex cellular component from the curated GO Cellular Component Annotations 2023 dataset.
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From GO Molecular Function Annotations 2023
genes performtrong>introng>g the trong>betatrong>-2 adrenergic trong>receptortrong> btrong>introng>dtrong>introng>g molecular function from the curated GO Molecular Function Annotations 2023 dataset.
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From GO Molecular Function Annotations 2023
genes performtrong>introng>g the type I transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> btrong>introng>dtrong>introng>g molecular function from the curated GO Molecular Function Annotations 2023 dataset.
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From GO Molecular Function Annotations 2023
genes performtrong>introng>g the type II transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> btrong>introng>dtrong>introng>g molecular function from the curated GO Molecular Function Annotations 2023 dataset.
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From GO Molecular Function Annotations 2023
genes performtrong>introng>g the type III transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> btrong>introng>dtrong>introng>g molecular function from the curated GO Molecular Function Annotations 2023 dataset.
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From GO Molecular Function Annotations 2023
genes performtrong>introng>g the trong>betatrong>-adrenergic trong>receptortrong> activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
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From GO Molecular Function Annotations 2023
genes performtrong>introng>g the platelet-derived growth factor trong>betatrong>-trong>receptortrong> activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
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From GO Molecular Function Annotations 2023
genes performtrong>introng>g the trong>betatrong>-adrenergic trong>receptortrong> ktrong>introng>ase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
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From GO Molecular Function Annotations 2023
genes performtrong>introng>g the trong>betatrong>-endorphtrong>introng> trong>receptortrong> activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
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From GO Molecular Function Annotations 2023
genes performtrong>introng>g the transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
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From GO Molecular Function Annotations 2023
genes performtrong>introng>g the transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> activity, type I molecular function from the curated GO Molecular Function Annotations 2023 dataset.
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From GO Molecular Function Annotations 2023
genes performtrong>introng>g the transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> btrong>introng>dtrong>introng>g molecular function from the curated GO Molecular Function Annotations 2023 dataset.
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From GO Molecular Function Annotations 2023
genes performtrong>introng>g the trong>betatrong>-1 adrenergic trong>receptortrong> btrong>introng>dtrong>introng>g molecular function from the curated GO Molecular Function Annotations 2023 dataset.
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From GO Molecular Function Annotations 2023
genes performtrong>introng>g the transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> activity, type III molecular function from the curated GO Molecular Function Annotations 2023 dataset.
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From GO Molecular Function Annotations 2023
genes performtrong>introng>g the transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> activity, type II molecular function from the curated GO Molecular Function Annotations 2023 dataset.
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From GO Molecular Function Annotations 2023
genes performtrong>introng>g the trong>betatrong>-3 adrenergic trong>receptortrong> btrong>introng>dtrong>introng>g molecular function from the curated GO Molecular Function Annotations 2023 dataset.
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From WikiPathways Pathways 2024
protetrong>introng>s participattrong>introng>g trong>introng> the TGF trong>betatrong> trong>receptortrong> signaltrong>introng>g trong>introng> skeletal dysplasias pathway from the WikiPathways Pathways 2024 dataset.
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From WikiPathways Pathways 2024
protetrong>introng>s participattrong>introng>g trong>introng> the TGF trong>betatrong> trong>receptortrong> signaltrong>introng>g pathway from the WikiPathways Pathways 2024 dataset.
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From Reactome Pathways 2024
protetrong>introng>s participattrong>introng>g trong>introng> the Downregulation of TGF-trong>betatrong> trong>receptortrong> signaltrong>introng>g pathway from the Reactome Pathways 2024 dataset.
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From Reactome Pathways 2024
protetrong>introng>s participattrong>introng>g trong>introng> the Signaltrong>introng>g by TGF-trong>betatrong> trong>Receptortrong> Complex pathway from the Reactome Pathways 2024 dataset.
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From Reactome Pathways 2024
protetrong>introng>s participattrong>introng>g trong>introng> the Signaltrong>introng>g by TGF-trong>betatrong> trong>Receptortrong> Complex trong>introng> Cancer pathway from the Reactome Pathways 2024 dataset.
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From Reactome Pathways 2024
protetrong>introng>s participattrong>introng>g trong>introng> the TGF-trong>betatrong> trong>receptortrong> signaltrong>introng>g activates SMADs pathway from the Reactome Pathways 2024 dataset.
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From Reactome Pathways 2024
protetrong>introng>s participattrong>introng>g trong>introng> the TGF-trong>betatrong> trong>receptortrong> signaltrong>introng>g trong>introng> EMT (epithelial to mesenchymal transition) pathway from the Reactome Pathways 2024 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the positive regulation of transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> signaltrong>introng>g pathway biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the positive regulation of platelet-derived growth factor trong>receptortrong>-trong>betatrong> signaltrong>introng>g pathway biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> signaltrong>introng>g pathway biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the regulation of transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> signaltrong>introng>g pathway biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the negative regulation of transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> signaltrong>introng>g pathway biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the platelet-derived growth factor trong>receptortrong>-trong>betatrong> signaltrong>introng>g pathway biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the negative regulation of platelet-derived growth factor trong>receptortrong>-trong>betatrong> signaltrong>introng>g pathway biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> complex assembly biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> superfamily signaltrong>introng>g pathway biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the regulation of platelet-derived growth factor trong>receptortrong>-trong>betatrong> signaltrong>introng>g pathway biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Cellular Component Annotations 2025
protetrong>introng>s localized to the transformtrong>introng>g growth factor trong>betatrong> ligand-trong>receptortrong> complex cellular component from the curated GO Cellular Component Annotations 2025 dataset.
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From GO Molecular Function Annotations 2025
genes performtrong>introng>g the trong>betatrong>-2 adrenergic trong>receptortrong> btrong>introng>dtrong>introng>g molecular function from the curated GO Molecular Function Annotations 2025 dataset.
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From GO Molecular Function Annotations 2025
genes performtrong>introng>g the type I transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> btrong>introng>dtrong>introng>g molecular function from the curated GO Molecular Function Annotations 2025 dataset.
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From GO Molecular Function Annotations 2025
genes performtrong>introng>g the type II transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> btrong>introng>dtrong>introng>g molecular function from the curated GO Molecular Function Annotations 2025 dataset.
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From GO Molecular Function Annotations 2025
genes performtrong>introng>g the type III transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> btrong>introng>dtrong>introng>g molecular function from the curated GO Molecular Function Annotations 2025 dataset.
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From GO Molecular Function Annotations 2025
genes performtrong>introng>g the trong>betatrong>-adrenergic trong>receptortrong> activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
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From GO Molecular Function Annotations 2025
genes performtrong>introng>g the platelet-derived growth factor trong>betatrong>-trong>receptortrong> activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
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From GO Molecular Function Annotations 2025
genes performtrong>introng>g the trong>betatrong>-adrenergic trong>receptortrong> ktrong>introng>ase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
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From GO Molecular Function Annotations 2025
genes performtrong>introng>g the trong>betatrong>-endorphtrong>introng> trong>receptortrong> activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
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From GO Molecular Function Annotations 2025
genes performtrong>introng>g the transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> activity, type I molecular function from the curated GO Molecular Function Annotations 2025 dataset.
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From GO Molecular Function Annotations 2025
genes performtrong>introng>g the transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
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From GO Molecular Function Annotations 2025
genes performtrong>introng>g the transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> activity, type II molecular function from the curated GO Molecular Function Annotations 2025 dataset.
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From GO Molecular Function Annotations 2025
genes performtrong>introng>g the transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> btrong>introng>dtrong>introng>g molecular function from the curated GO Molecular Function Annotations 2025 dataset.
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From GO Molecular Function Annotations 2025
genes performtrong>introng>g the trong>betatrong>-1 adrenergic trong>receptortrong> btrong>introng>dtrong>introng>g molecular function from the curated GO Molecular Function Annotations 2025 dataset.
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From GO Molecular Function Annotations 2025
genes performtrong>introng>g the transformtrong>introng>g growth factor trong>betatrong> trong>receptortrong> activity, type III molecular function from the curated GO Molecular Function Annotations 2025 dataset.
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From GO Molecular Function Annotations 2025
genes performtrong>introng>g the trong>betatrong>-3 adrenergic trong>receptortrong> btrong>introng>dtrong>introng>g molecular function from the curated GO Molecular Function Annotations 2025 dataset.
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From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025
protetrong>introng>s co-occurtrong>introng>g with the Transformtrong>introng>g growth factor trong>betatrong> ligand-trong>receptortrong> complex cellular component trong>introng> abstracts of biomedical publications from the COMPARTMENTS Text-mtrong>introng>trong>introng>g Protetrong>introng> Localization Evidence Scores 2025 dataset.
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From ClinVar Gene-Phenotype Associations 2025
genes associated with the Resistance to thyroid hormone due to a mutation trong>introng> thyroid hormone trong>receptortrong> trong>betatrong> phenotype from the curated Cltrong>introng>Var Gene-Phenotype Associations 2025 dataset.
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From GWAS Catalog SNP-Phenotype Associations 2025
genes associated with the trong>introng>terleuktrong>introng> 12 trong>receptortrong> subunit trong>betatrong>-1 levels phenotype trong>introng> GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
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From ClinVar Gene-Phenotype Associations
genes associated with the Alpha/trong>betatrong> T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus trong>introng>fection, and autoimmunity phenotype from the curated Cltrong>introng>Var Gene-Phenotype Associations dataset.
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From CTD Gene-Disease Associations
genes/protetrong>introng>s associated with the disease Alpha/trong>Betatrong> T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus trong>Introng>fection, and Autoimmunity from the curated CTD Gene-Disease Associations dataset.
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From GAD Gene-Disease Associations
genes associated with the disease anemia, sickle cell; trong>betatrong>-thalassemia; sickle cell trait; thrombophilia trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GEO Signatures of Differentially Expressed Genes for Diseases
genes differentially expressed durtrong>introng>g Type 2 diabetes mellitus_Endocrtrong>introng>e Pancreas - Islet Cell of Langerhans - trong>Betatrong> Cell (MMHCC)_GSE6428 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.
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From OMIM Gene-Disease Associations
genes associated with the alpha/trong>betatrong> t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus trong>introng>fection, and autoimmunity phenotype from the curated OMIM Gene-Disease Associations dataset.
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From DisGeNET Gene-Disease Associations
genes associated with the disease Alpha/trong>Betatrong> T-Cell Lymphopenia With Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus trong>Introng>fection, And Autoimmunity trong>introng> GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
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From CellMarker Gene-Cell Type Associations
genes associated with the trong>Betatrong> cell(β cell)_Pancreatic islet_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.
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From CellMarker Gene-Cell Type Associations
genes associated with the trong>Betatrong> cell(β cell)_Pancreatic islet_Human cell type from the CellMarker Gene-Cell Type Associations dataset.
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From CellMarker Gene-Cell Type Associations
genes associated with the trong>Betatrong> cell(β cell)_Undeftrong>introng>ed_Human cell type from the CellMarker Gene-Cell Type Associations dataset.
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From Biocarta Pathways
protetrong>introng>s participattrong>introng>g trong>introng> the the co-stimulatory signal durtrong>introng>g t-cell activation pathway from the Biocarta Pathways dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the nk t cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the positive regulation of t-helper 2 cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the negative regulation of b cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the positive regulation of nk t cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the myeloid cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the regulation of mast cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the activation-trong>introng>duced cell death of t cells biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the negative regulation of myeloid dendritic cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the t cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the positive regulation of mast cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the positive regulation of mast cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the b cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the endothelial cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the microglial cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the positive regulation of satellite cell activation trong>introng>volved trong>introng> skeletal muscle regeneration biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the positive regulation of memory t cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the regulation of hepatic stellate cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the myeloid dendritic cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the t cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the hepatic stellate cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the regulation of b cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the positive regulation of gamma-delta t cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the negative regulation of nk t cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the mast cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the gamma-delta t cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the negative regulation of activation-trong>introng>duced cell death of t cells biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the memory t cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the regulation of activation-trong>introng>duced cell death of t cells biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the regulation of t cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the regulation of mast cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the regulation of satellite cell activation trong>introng>volved trong>introng> skeletal muscle regeneration biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the negative regulation of cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the positive regulation of cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the positive regulation of activation-trong>introng>duced cell death of t cells biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the natural killer cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the regulation of gamma-delta t cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the regulation of natural killer cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the regulation of nk t cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the mast cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the regulation of myeloid dendritic cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the negative regulation of mast cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the natural killer cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the positive regulation of gamma-delta t cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the regulation of cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the positive regulation of natural killer cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the positive regulation of b cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the regulation of gamma-delta t cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the regulation of t-helper 2 cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the negative regulation of mast cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the myeloid dendritic cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the follicular dendritic cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the positive regulation of myeloid dendritic cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the negative regulation of t cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the microglial cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the negative regulation of natural killer cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the skeletal muscle satellite cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the t-helper 2 cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the b cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the negative regulation of t-helper 1 cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the positive regulation of hepatic stellate cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the positive regulation of t cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the regulation of t-helper 1 cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the regulation of memory t cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From HPO Gene-Disease Associations
genes associated with the decreased t cell activation phenotype by mapptrong>introng>g known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
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From HPO Gene-Disease Associations
genes associated with the defective b cell activation phenotype by mapptrong>introng>g known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the T-cell activation trong>introng>hibitor, mitochondrial protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From MPO Gene-Phenotype Associations
gene mutations caustrong>introng>g the abnormal microglial cell activation phenotype trong>introng> transgenic mice from the MPO Gene-Phenotype Associations dataset.
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From MPO Gene-Phenotype Associations
gene mutations caustrong>introng>g the abnormal t cell activation phenotype trong>introng> transgenic mice from the MPO Gene-Phenotype Associations dataset.
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From MPO Gene-Phenotype Associations
gene mutations caustrong>introng>g the decreased activation-trong>introng>duced b cell apoptosis phenotype trong>introng> transgenic mice from the MPO Gene-Phenotype Associations dataset.
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From MPO Gene-Phenotype Associations
gene mutations caustrong>introng>g the decreased activation-trong>introng>duced cell death of t cells phenotype trong>introng> transgenic mice from the MPO Gene-Phenotype Associations dataset.
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From MPO Gene-Phenotype Associations
gene mutations caustrong>introng>g the abnormal b cell activation phenotype trong>introng> transgenic mice from the MPO Gene-Phenotype Associations dataset.
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From MPO Gene-Phenotype Associations
gene mutations caustrong>introng>g the trong>introng>creased activation-trong>introng>duced b cell apoptosis phenotype trong>introng> transgenic mice from the MPO Gene-Phenotype Associations dataset.
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From MPO Gene-Phenotype Associations
gene mutations caustrong>introng>g the abnormal activation-trong>introng>duced b cell apoptosis phenotype trong>introng> transgenic mice from the MPO Gene-Phenotype Associations dataset.
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From MPO Gene-Phenotype Associations
gene mutations caustrong>introng>g the abnormal activation-trong>introng>duced cell death of t cells phenotype trong>introng> transgenic mice from the MPO Gene-Phenotype Associations dataset.
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From PANTHER Pathways
protetrong>introng>s participattrong>introng>g trong>introng> the T cell activation pathway from the PANTHER Pathways dataset.
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From PANTHER Pathways
protetrong>introng>s participattrong>introng>g trong>introng> the B cell activation pathway from the PANTHER Pathways dataset.
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From Reactome Pathways 2014
protetrong>introng>s participattrong>introng>g trong>introng> the Transcriptional activation of cell cycle trong>introng>hibitor p21 pathway from the Reactome Pathways dataset.
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From DisGeNET Gene-Disease Associations
genes associated with the disease Monoclonal Mast Cell Activation Syndrome trong>introng> GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
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From DisGeNET Gene-Phenotype Associations
genes associated with the phenotype Decreased T Cell Activation trong>introng> GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
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From DisGeNET Gene-Phenotype Associations
genes associated with the phenotype Defective B Cell Activation trong>introng> GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the positive regulation of T cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the positive regulation of cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the gamma-delta T cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the natural killer cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the T cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the B cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the negative regulation of mast cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the regulation of mast cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the regulation of T cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the microglial cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the positive regulation of satellite cell activation trong>introng>volved trong>introng> skeletal muscle regeneration biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the microglial cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the negative regulation of microglial cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the B cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the positive regulation of memory T cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the positive regulation of B cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the regulation of microglial cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the positive regulation of myeloid dendritic cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the negative regulation of T cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the myeloid dendritic cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the T-helper 1 cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the positive regulation of microglial cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the mast cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the T cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the regulation of B cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the negative regulation of B cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the memory T cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the T-helper 2 cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the regulation of natural killer cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the positive regulation of natural killer cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the positive regulation of NK T cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the activation-trong>introng>duced cell death of T cells biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the negative regulation of T-helper 1 cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the positive regulation of T-helper 2 cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the negative regulation of activation-trong>introng>duced cell death of T cells biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the myeloid dendritic cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the positive regulation of hepatic stellate cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the positive regulation of mast cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the negative regulation of natural killer cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the negative regulation of mast cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the positive regulation of gamma-delta T cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the negative regulation of myeloid dendritic cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the natural killer cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the positive regulation of gamma-delta T cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the endothelial cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the positive regulation of mast cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the negative regulation of cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the negative regulation of NK T cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the regulation of activation-trong>introng>duced cell death of T cells biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the regulation of cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the mast cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the myeloid cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the regulation of mast cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the regulation of satellite cell activation trong>introng>volved trong>introng> skeletal muscle regeneration biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the regulation of memory T cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the regulation of myeloid dendritic cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the regulation of NK T cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
|
From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the regulation of gamma-delta T cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the regulation of T-helper 1 cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the regulation of T-helper 2 cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the regulation of hepatic stellate cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the regulation of gamma-delta T cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the NK T cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
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From MGI Mouse Phenotype Associations 2023
gene mutations caustrong>introng>g the abnormal T cell activation phenotype trong>introng> transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
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From MGI Mouse Phenotype Associations 2023
gene mutations caustrong>introng>g the decreased microglial cell activation phenotype trong>introng> transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
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From MGI Mouse Phenotype Associations 2023
gene mutations caustrong>introng>g the abnormal B cell activation phenotype trong>introng> transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
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From MGI Mouse Phenotype Associations 2023
gene mutations caustrong>introng>g the trong>introng>creased microglial cell activation phenotype trong>introng> transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
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From MGI Mouse Phenotype Associations 2023
gene mutations caustrong>introng>g the trong>introng>creased activation-trong>introng>duced B cell apoptosis phenotype trong>introng> transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
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From MGI Mouse Phenotype Associations 2023
gene mutations caustrong>introng>g the decreased activation-trong>introng>duced cell death of T cells phenotype trong>introng> transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
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From MGI Mouse Phenotype Associations 2023
gene mutations caustrong>introng>g the abnormal microglial cell activation phenotype trong>introng> transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
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From MGI Mouse Phenotype Associations 2023
gene mutations caustrong>introng>g the decreased activation-trong>introng>duced B cell apoptosis phenotype trong>introng> transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
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From WikiPathways Pathways 2024
protetrong>introng>s participattrong>introng>g trong>introng> the Modulators of TCR signaltrong>introng>g and T cell activation pathway from the WikiPathways Pathways 2024 dataset.
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From WikiPathways Pathways 2024
protetrong>introng>s participattrong>introng>g trong>introng> the T cell activation SARS CoV 2 pathway from the WikiPathways Pathways 2024 dataset.
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From WikiPathways Pathways 2024
protetrong>introng>s participattrong>introng>g trong>introng> the mRNA vacctrong>introng>e activation of dendritic cell and trong>introng>duction of IFN 1 pathway from the WikiPathways Pathways 2024 dataset.
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From WikiPathways Pathways 2024
protetrong>introng>s participattrong>introng>g trong>introng> the Extrafollicular and follicular B cell activation by SARS CoV 2 pathway from the WikiPathways Pathways 2024 dataset.
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From Reactome Pathways 2024
protetrong>introng>s participattrong>introng>g trong>introng> the Transcriptional activation of cell cycle trong>introng>hibitor p21 pathway from the Reactome Pathways 2024 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the positive regulation of T cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the positive regulation of cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the natural killer cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the T cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the B cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the negative regulation of mast cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the NK T cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the regulation of mast cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the activation-trong>introng>duced cell death of T cells biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the regulation of T cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the microglial cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the positive regulation of satellite cell activation trong>introng>volved trong>introng> skeletal muscle regeneration biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the microglial cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the negative regulation of T cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the negative regulation of microglial cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the B cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the positive regulation of memory T cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the positive regulation of B cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the regulation of microglial cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the positive regulation of myeloid dendritic cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the gamma-delta T cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the myeloid dendritic cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the T-helper 1 cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the positive regulation of microglial cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the mast cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the negative regulation of natural killer cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the positive regulation of natural killer cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the T cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the regulation of B cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the negative regulation of NK T cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the negative regulation of B cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the memory T cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the T-helper 2 cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the regulation of natural killer cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the positive regulation of NK T cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the negative regulation of T-helper 1 cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the positive regulation of T-helper 2 cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the negative regulation of activation-trong>introng>duced cell death of T cells biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the myeloid dendritic cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the positive regulation of hepatic stellate cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the positive regulation of mast cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the satellite cell activation trong>introng>volved trong>introng> skeletal muscle regeneration biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the negative regulation of mast cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the positive regulation of gamma-delta T cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the negative regulation of myeloid dendritic cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the natural killer cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the positive regulation of gamma-delta T cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the endothelial cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the positive regulation of mast cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the negative regulation of cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the regulation of activation-trong>introng>duced cell death of T cells biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the regulation of cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the mast cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the myeloid cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the regulation of mast cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the regulation of satellite cell activation trong>introng>volved trong>introng> skeletal muscle regeneration biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the regulation of memory T cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the regulation of myeloid dendritic cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the regulation of NK T cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the regulation of gamma-delta T cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the regulation of T-helper 1 cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the regulation of T-helper 2 cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the regulation of hepatic stellate cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
|
From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the regulation of gamma-delta T cell activation trong>introng>volved trong>introng> immune response biological process from the curated GO Biological Process Annotations 2025 dataset.
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From Biocarta Pathways
protetrong>introng>s participattrong>introng>g trong>introng> the neuroregultrong>introng> trong>receptortrong> degredation protetrong>introng>-1 controls erbb3 trong>receptortrong> recycltrong>introng>g pathway from the Biocarta Pathways dataset.
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From COMPARTMENTS Curated Protein Localization Evidence Scores
protetrong>introng>s localized to the toll-like trong>receptortrong> 2-toll-like trong>receptortrong> 6 protetrong>introng> complex cellular component from the COMPARTMENTS Curated Protetrong>introng> Localization Evidence Scores dataset.
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From COMPARTMENTS Curated Protein Localization Evidence Scores
protetrong>introng>s localized to the toll-like trong>receptortrong> 1-toll-like trong>receptortrong> 2 protetrong>introng> complex cellular component from the COMPARTMENTS Curated Protetrong>introng> Localization Evidence Scores dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the epidermal growth factor-activated trong>receptortrong> transactivation by g-protetrong>introng> coupled trong>receptortrong> signaltrong>introng>g pathway biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Cellular Component Annotations 2015
protetrong>introng>s localized to the toll-like trong>receptortrong> 2-toll-like trong>receptortrong> 6 protetrong>introng> complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.
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From GO Cellular Component Annotations 2015
protetrong>introng>s localized to the toll-like trong>receptortrong> 1-toll-like trong>receptortrong> 2 protetrong>introng> complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase-like orphan trong>receptortrong> btrong>introng>dtrong>introng>g molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the G protetrong>introng>-coupled trong>receptortrong> 40-related trong>receptortrong> protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Protetrong>introng>-tyrostrong>introng>e phosphatase, trong>receptortrong>/non-trong>receptortrong> type protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Gamma-amtrong>introng>obutyric acid A trong>receptortrong>/Glyctrong>introng>e trong>receptortrong> alpha protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Oestrogen trong>receptortrong>/oestrogen-related trong>receptortrong> protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Protetrong>introng>-tyrostrong>introng>e phosphatase, trong>receptortrong> type R/non-trong>receptortrong> type 5 protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From Reactome Pathways 2014
protetrong>introng>s participattrong>introng>g trong>introng> the trong>Receptortrong>-ligand btrong>introng>dtrong>introng>g trong>introng>itiates the second proteolytic cleavage of Notch trong>receptortrong> pathway from the Reactome Pathways dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the cross-trong>receptortrong> trong>introng>hibition withtrong>introng> G protetrong>introng>-coupled trong>receptortrong> heterodimer biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Cellular Component Annotations 2023
protetrong>introng>s localized to the Toll-like trong>receptortrong> 1-Toll-like trong>receptortrong> 2 protetrong>introng> complex cellular component from the curated GO Cellular Component Annotations 2023 dataset.
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From GO Cellular Component Annotations 2023
protetrong>introng>s localized to the Toll-like trong>receptortrong> 2-Toll-like trong>receptortrong> 6 protetrong>introng> complex cellular component from the curated GO Cellular Component Annotations 2023 dataset.
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From GO Molecular Function Annotations 2023
genes performtrong>introng>g the trong>receptortrong>-trong>receptortrong> trong>introng>teraction molecular function from the curated GO Molecular Function Annotations 2023 dataset.
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From GO Molecular Function Annotations 2023
genes performtrong>introng>g the trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase-like orphan trong>receptortrong> btrong>introng>dtrong>introng>g molecular function from the curated GO Molecular Function Annotations 2023 dataset.
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From GO Biological Process Annotations 2025
genes participattrong>introng>g trong>introng> the cross-trong>receptortrong> trong>introng>hibition withtrong>introng> G protetrong>introng>-coupled trong>receptortrong> heterodimer biological process from the curated GO Biological Process Annotations 2025 dataset.
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From GO Cellular Component Annotations 2025
protetrong>introng>s localized to the Toll-like trong>receptortrong> 1-Toll-like trong>receptortrong> 2 protetrong>introng> complex cellular component from the curated GO Cellular Component Annotations 2025 dataset.
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From GO Cellular Component Annotations 2025
protetrong>introng>s localized to the Toll-like trong>receptortrong> 2-Toll-like trong>receptortrong> 6 protetrong>introng> complex cellular component from the curated GO Cellular Component Annotations 2025 dataset.
|
From GO Molecular Function Annotations 2025
genes performtrong>introng>g the trong>receptortrong>-trong>receptortrong> trong>introng>teraction molecular function from the curated GO Molecular Function Annotations 2025 dataset.
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From GO Molecular Function Annotations 2025
genes performtrong>introng>g the trong>receptortrong> tyrostrong>introng>e ktrong>introng>ase-like orphan trong>receptortrong> btrong>introng>dtrong>introng>g molecular function from the curated GO Molecular Function Annotations 2025 dataset.
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From COMPARTMENTS Curated Protein Localization Evidence Scores 2025
protetrong>introng>s localized to the Toll-like trong>receptortrong> 1-Toll-like trong>receptortrong> 2 protetrong>introng> complex cellular component from the COMPARTMENTS Curated Protetrong>introng> Localization Evidence Scores 2025 dataset.
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From COMPARTMENTS Curated Protein Localization Evidence Scores 2025
protetrong>introng>s localized to the Toll-like trong>receptortrong> 2-Toll-like trong>receptortrong> 6 protetrong>introng> complex cellular component from the COMPARTMENTS Curated Protetrong>introng> Localization Evidence Scores 2025 dataset.
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From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025
protetrong>introng>s co-occurtrong>introng>g with the Toll-like trong>receptortrong> 1-Toll-like trong>receptortrong> 2 protetrong>introng> complex cellular component trong>introng> abstracts of biomedical publications from the COMPARTMENTS Text-mtrong>introng>trong>introng>g Protetrong>introng> Localization Evidence Scores 2025 dataset.
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From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025
protetrong>introng>s co-occurtrong>introng>g with the Toll-like trong>receptortrong> 2-Toll-like trong>receptortrong> 6 protetrong>introng> complex cellular component trong>introng> abstracts of biomedical publications from the COMPARTMENTS Text-mtrong>introng>trong>introng>g Protetrong>introng> Localization Evidence Scores 2025 dataset.
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From GAD Gene-Disease Associations
genes associated with the disease carctrong>introng>oma, basal cell; carctrong>introng>oma, squamous cell; neoplasms, second primary; sktrong>introng> basal cell carctrong>introng>oma; sktrong>introng> neoplasms; squamous cell carctrong>introng>oma trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GAD Gene-Disease Associations
genes associated with the disease carctrong>introng>oma, basal cell; carctrong>introng>oma, squamous cell; cocarctrong>introng>ogenesis; neoplasms, radiation-trong>introng>duced; sktrong>introng> basal cell carctrong>introng>oma; sktrong>introng> neoplasms; squamous cell carctrong>introng>oma; sunburn trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GAD Gene-Disease Associations
genes associated with the disease carctrong>introng>oma, basal cell; carctrong>introng>oma, squamous cell; melanoma; sktrong>introng> basal cell carctrong>introng>oma; sktrong>introng> neoplasms; squamous cell carctrong>introng>oma trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GAD Gene-Disease Associations
genes associated with the disease b-cell lymphomas; lymphoma, b-cell; lymphoma, large b-cell, diffuse; lymphoma, large-cell, diffuse trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GAD Gene-Disease Associations
genes associated with the disease adenocarctrong>introng>oma; carctrong>introng>oma, large cell; carctrong>introng>oma, non-small-cell lung; carctrong>introng>oma, squamous cell; lung neoplasms; neoplasm of lung ; squamous cell carctrong>introng>oma trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GAD Gene-Disease Associations
genes associated with the disease carctrong>introng>oma, basal cell; carctrong>introng>oma, squamous cell; dna damage; sktrong>introng> basal cell carctrong>introng>oma; sktrong>introng> neoplasms; squamous cell carctrong>introng>oma trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GAD Gene-Disease Associations
genes associated with the disease carctrong>introng>oma, basal cell; carctrong>introng>oma, squamous cell; postoperative complications; sktrong>introng> basal cell carctrong>introng>oma; sktrong>introng> neoplasms; squamous cell carctrong>introng>oma trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GAD Gene-Disease Associations
genes associated with the disease carctrong>introng>oma, basal cell; carctrong>introng>oma, squamous cell; sktrong>introng> basal cell carctrong>introng>oma; sktrong>introng> neoplasms; squamous cell carctrong>introng>oma trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GAD Gene-Disease Associations
genes associated with the disease adenocarctrong>introng>oma; carctrong>introng>oma, small cell; carctrong>introng>oma, squamous cell; lung neoplasms; neoplasm of lung ; small cell carctrong>introng>oma of lung; squamous cell carctrong>introng>oma trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GAD Gene-Disease Associations
genes associated with the disease carctrong>introng>oma, basal cell; carctrong>introng>oma, squamous cell; melanoma; sktrong>introng> basal cell carctrong>introng>oma; sktrong>introng> neoplasms; squamous cell carctrong>introng>oma; sunburn trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GAD Gene-Disease Associations
genes associated with the disease carctrong>introng>oma, basal cell; carctrong>introng>oma, squamous cell; melanoma; postoperative complications; sktrong>introng> basal cell carctrong>introng>oma; sktrong>introng> neoplasms; squamous cell carctrong>introng>oma trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GAD Gene-Disease Associations
genes associated with the disease adenocarctrong>introng>oma; carctrong>introng>oma, giant cell; carctrong>introng>oma, large cell; carctrong>introng>oma, non-small-cell lung; carctrong>introng>oma, squamous cell; lung neoplasms; neoplasm recurrence, local trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the cell-cell signaltrong>introng>g trong>introng>volved trong>introng> cell-cell junction organization biological process from the curated GO Biological Process Annotations 2015 dataset.
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From PhosphoSitePlus Phosphosite-Disease Associations
protetrong>introng>s associated with the disease non-small cell large cell lung carctrong>introng>oma; non-small cell squamous cell lung carctrong>introng>oma from the curated PhosphoSitePlus Phosphosite-Disease Associations dataset.
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From ClinVar Gene-Phenotype Associations
genes associated with the Branched-trong>chatrong>introng>trong> ketoacid dehydrogenase ktrong>introng>ase deficiency phenotype from the curated Cltrong>introng>Var Gene-Phenotype Associations dataset.
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From ClinVar Gene-Phenotype Associations
genes associated with the Medium-trong>chatrong>introng>trong> acyl-coenzyme A dehydrogenase deficiency phenotype from the curated Cltrong>introng>Var Gene-Phenotype Associations dataset.
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From ClinVar Gene-Phenotype Associations
genes associated with the Very long trong>chatrong>introng>trong> acyl-CoA dehydrogenase deficiency phenotype from the curated Cltrong>introng>Var Gene-Phenotype Associations dataset.
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From ClinVar Gene-Phenotype Associations
genes associated with the Cholesterol monooxygenase (side-trong>chatrong>introng>trong> cleavtrong>introng>g) deficiency phenotype from the curated Cltrong>introng>Var Gene-Phenotype Associations dataset.
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From COMPARTMENTS Text-mining Protein Localization Evidence Scores
protetrong>introng>s co-occurtrong>introng>g with the mitochondrial respiratory trong>chatrong>introng>trong> complex iv cellular component trong>introng> abstracts of biomedical publications from the COMPARTMENTS Text-mtrong>introng>trong>introng>g Protetrong>introng> Localization Evidence Scores dataset.
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From COMPARTMENTS Text-mining Protein Localization Evidence Scores
protetrong>introng>s co-occurtrong>introng>g with the mitochondrial respiratory trong>chatrong>introng>trong> complex i cellular component trong>introng> abstracts of biomedical publications from the COMPARTMENTS Text-mtrong>introng>trong>introng>g Protetrong>introng> Localization Evidence Scores dataset.
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From COMPARTMENTS Text-mining Protein Localization Evidence Scores
protetrong>introng>s co-occurtrong>introng>g with the respiratory trong>chatrong>introng>trong> complex ii cellular component trong>introng> abstracts of biomedical publications from the COMPARTMENTS Text-mtrong>introng>trong>introng>g Protetrong>introng> Localization Evidence Scores dataset.
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From COMPARTMENTS Text-mining Protein Localization Evidence Scores
protetrong>introng>s co-occurtrong>introng>g with the plasma membrane respiratory trong>chatrong>introng>trong> cellular component trong>introng> abstracts of biomedical publications from the COMPARTMENTS Text-mtrong>introng>trong>introng>g Protetrong>introng> Localization Evidence Scores dataset.
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From COMPARTMENTS Text-mining Protein Localization Evidence Scores
protetrong>introng>s co-occurtrong>introng>g with the respiratory trong>chatrong>introng>trong> complex iv cellular component trong>introng> abstracts of biomedical publications from the COMPARTMENTS Text-mtrong>introng>trong>introng>g Protetrong>introng> Localization Evidence Scores dataset.
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From COMPARTMENTS Text-mining Protein Localization Evidence Scores
protetrong>introng>s co-occurtrong>introng>g with the mitochondrial respiratory trong>chatrong>introng>trong> supercomplex cellular component trong>introng> abstracts of biomedical publications from the COMPARTMENTS Text-mtrong>introng>trong>introng>g Protetrong>introng> Localization Evidence Scores dataset.
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From COMPARTMENTS Text-mining Protein Localization Evidence Scores
protetrong>introng>s co-occurtrong>introng>g with the short-trong>chatrong>introng>trong> collagen trimer cellular component trong>introng> abstracts of biomedical publications from the COMPARTMENTS Text-mtrong>introng>trong>introng>g Protetrong>introng> Localization Evidence Scores dataset.
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From COMPARTMENTS Text-mining Protein Localization Evidence Scores
protetrong>introng>s co-occurtrong>introng>g with the respiratory trong>chatrong>introng>trong> complex i cellular component trong>introng> abstracts of biomedical publications from the COMPARTMENTS Text-mtrong>introng>trong>introng>g Protetrong>introng> Localization Evidence Scores dataset.
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From COMPARTMENTS Text-mining Protein Localization Evidence Scores
protetrong>introng>s co-occurtrong>introng>g with the mitochondrial respiratory trong>chatrong>introng>trong> cellular component trong>introng> abstracts of biomedical publications from the COMPARTMENTS Text-mtrong>introng>trong>introng>g Protetrong>introng> Localization Evidence Scores dataset.
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From COMPARTMENTS Text-mining Protein Localization Evidence Scores
protetrong>introng>s co-occurtrong>introng>g with the respiratory trong>chatrong>introng>trong> cellular component trong>introng> abstracts of biomedical publications from the COMPARTMENTS Text-mtrong>introng>trong>introng>g Protetrong>introng> Localization Evidence Scores dataset.
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From COMPARTMENTS Text-mining Protein Localization Evidence Scores
protetrong>introng>s co-occurtrong>introng>g with the respiratory trong>chatrong>introng>trong> complex iii cellular component trong>introng> abstracts of biomedical publications from the COMPARTMENTS Text-mtrong>introng>trong>introng>g Protetrong>introng> Localization Evidence Scores dataset.
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From COMPARTMENTS Text-mining Protein Localization Evidence Scores
protetrong>introng>s co-occurtrong>introng>g with the heavy trong>chatrong>introng>trong> immunoglobultrong>introng> complex cellular component trong>introng> abstracts of biomedical publications from the COMPARTMENTS Text-mtrong>introng>trong>introng>g Protetrong>introng> Localization Evidence Scores dataset.
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From COMPARTMENTS Text-mining Protein Localization Evidence Scores
protetrong>introng>s co-occurtrong>introng>g with the mitochondrial respiratory trong>chatrong>introng>trong> complex ii cellular component trong>introng> abstracts of biomedical publications from the COMPARTMENTS Text-mtrong>introng>trong>introng>g Protetrong>introng> Localization Evidence Scores dataset.
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From COMPARTMENTS Text-mining Protein Localization Evidence Scores
protetrong>introng>s co-occurtrong>introng>g with the mitochondrial respiratory trong>chatrong>introng>trong> complex iii cellular component trong>introng> abstracts of biomedical publications from the COMPARTMENTS Text-mtrong>introng>trong>introng>g Protetrong>introng> Localization Evidence Scores dataset.
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From CORUM Protein Complexes
protetrong>introng>s trong>introng> the Respiratory trong>chatrong>introng>trong> complex I, mitochondrial protetrong>introng> complex from the CORUM Protetrong>introng> Complexes dataset.
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From CORUM Protein Complexes
protetrong>introng>s trong>introng> the Respiratory trong>chatrong>introng>trong> complex I (trong>introng>complete NDUFAF1 assembly), mitochondrial protetrong>introng> complex from the CORUM Protetrong>introng> Complexes dataset.
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From CORUM Protein Complexes
protetrong>introng>s trong>introng> the Respiratory trong>chatrong>introng>trong> complex I (trong>introng>termediate VII/650kD), mitochondrial protetrong>introng> complex from the CORUM Protetrong>introng> Complexes dataset.
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From CORUM Protein Complexes
protetrong>introng>s trong>introng> the Respiratory trong>chatrong>introng>trong> complex I (lambda subunit) mitochondrial protetrong>introng> complex from the CORUM Protetrong>introng> Complexes dataset.
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From CORUM Protein Complexes
protetrong>introng>s trong>introng> the Respiratory trong>chatrong>introng>trong> complex I (gamma subunit) mitochondrial protetrong>introng> complex from the CORUM Protetrong>introng> Complexes dataset.
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From CORUM Protein Complexes
protetrong>introng>s trong>introng> the Respiratory trong>chatrong>introng>trong> complex I (trong>introng>termediate IV/310kD), mitochondrial protetrong>introng> complex from the CORUM Protetrong>introng> Complexes dataset.
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From CORUM Protein Complexes
protetrong>introng>s trong>introng> the Respiratory trong>chatrong>introng>trong> complex I (trong>introng>complete trong>introng>termediate), mitochondrial protetrong>introng> complex from the CORUM Protetrong>introng> Complexes dataset.
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From CORUM Protein Complexes
protetrong>introng>s trong>introng> the Respiratory trong>chatrong>introng>trong> complex I (trong>introng>complete trong>introng>termediate ND1, ND2, ND3, CIA30 assembly), mitochondrial protetrong>introng> complex from the CORUM Protetrong>introng> Complexes dataset.
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From CORUM Protein Complexes
protetrong>introng>s trong>introng> the Respiratory trong>chatrong>introng>trong> complex I (holoenzyme), mitochondrial protetrong>introng> complex from the CORUM Protetrong>introng> Complexes dataset.
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From CORUM Protein Complexes
protetrong>introng>s trong>introng> the Respiratory trong>chatrong>introng>trong> complex I (trong>introng>termediate II/230kD), mitochondrial protetrong>introng> complex from the CORUM Protetrong>introng> Complexes dataset.
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From CORUM Protein Complexes
protetrong>introng>s trong>introng> the Respiratory trong>chatrong>introng>trong> complex I (trong>introng>termediate I/200kD and III/250kD), mitochondrial protetrong>introng> complex from the CORUM Protetrong>introng> Complexes dataset.
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From CORUM Protein Complexes
protetrong>introng>s trong>introng> the Respiratory trong>chatrong>introng>trong> complex I (trong>introng>termediate V/380kD and VI/480kD), mitochondrial protetrong>introng> complex from the CORUM Protetrong>introng> Complexes dataset.
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From CORUM Protein Complexes
protetrong>introng>s trong>introng> the Respiratory trong>chatrong>introng>trong> complex I (early trong>introng>termediate NDUFAF1 assembly), mitochondrial protetrong>introng> complex from the CORUM Protetrong>introng> Complexes dataset.
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From CTD Gene-Disease Associations
genes/protetrong>introng>s associated with the disease LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.
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From CTD Gene-Disease Associations
genes/protetrong>introng>s associated with the disease Triglyceride storage disease with impaired long-trong>chatrong>introng>trong> fatty acid oxidation from the curated CTD Gene-Disease Associations dataset.
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From CTD Gene-Disease Associations
genes/protetrong>introng>s associated with the disease Medium trong>chatrong>introng>trong> acyl CoA dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset.
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From CTD Gene-Disease Associations
genes/protetrong>introng>s associated with the disease Short trong>chatrong>introng>trong> Acyl CoA dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset.
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From DISEASES Text-mining Gene-Disease Association Evidence Scores
genes co-occurtrong>introng>g with the disease gamma heavy trong>chatrong>introng>trong> disease trong>introng> abstracts of biomedical publications from the DISEASES Text-mtrong>introng>trong>introng>g Gene-Disease Assocation Evidence Scores dataset.
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From DISEASES Text-mining Gene-Disease Association Evidence Scores
genes co-occurtrong>introng>g with the disease gamma trong>chatrong>introng>trong> deficiency trong>introng> abstracts of biomedical publications from the DISEASES Text-mtrong>introng>trong>introng>g Gene-Disease Assocation Evidence Scores dataset.
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From DISEASES Text-mining Gene-Disease Association Evidence Scores
genes co-occurtrong>introng>g with the disease heavy trong>chatrong>introng>trong> disease trong>introng> abstracts of biomedical publications from the DISEASES Text-mtrong>introng>trong>introng>g Gene-Disease Assocation Evidence Scores dataset.
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From DISEASES Text-mining Gene-Disease Association Evidence Scores
genes co-occurtrong>introng>g with the disease mu trong>chatrong>introng>trong> disease trong>introng> abstracts of biomedical publications from the DISEASES Text-mtrong>introng>trong>introng>g Gene-Disease Assocation Evidence Scores dataset.
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From DISEASES Text-mining Gene-Disease Association Evidence Scores
genes co-occurtrong>introng>g with the disease alpha trong>chatrong>introng>trong> disease trong>introng> abstracts of biomedical publications from the DISEASES Text-mtrong>introng>trong>introng>g Gene-Disease Assocation Evidence Scores dataset.
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From GAD Gene-Disease Associations
genes associated with the disease medium-trong>chatrong>introng>trong> acyl-coa dehydrogenase deficiency trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GAD Gene-Disease Associations
genes associated with the disease medium-trong>chatrong>introng>trong> acyl-coa dehydrogenase (mcad) deficiency trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GAD Gene-Disease Associations
genes associated with the disease mcadd (medium trong>chatrong>introng>trong> acyl-coa hydrhydrogenase deftrong>introng> trong>introng> GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
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From GeneRIF Biological Term Annotations
genes co-occurtrong>introng>g with the biological term trong>chatrong>introng>trong> trong>introng> literature-supported statements describtrong>introng>g functions of genes from the GeneRIF Biological Term Annotations dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the mitochondrial respiratory trong>chatrong>introng>trong> complex ii biogenesis biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the short-trong>chatrong>introng>trong> fatty acid metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the branched-trong>chatrong>introng>trong> amtrong>introng>o acid metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the long-trong>chatrong>introng>trong> fatty acid catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the long-trong>chatrong>introng>trong> fatty-acyl-coa biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the medium-trong>chatrong>introng>trong> fatty-acyl-coa catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the branched-trong>chatrong>introng>trong> amtrong>introng>o acid transport biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the very long-trong>chatrong>introng>trong> fatty-acyl-coa metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the medium-trong>chatrong>introng>trong> fatty-acyl-coa metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the plasma membrane long-trong>chatrong>introng>trong> fatty acid transport biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the mitochondrial respiratory trong>chatrong>introng>trong> complex iv biogenesis biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the short-trong>chatrong>introng>trong> fatty acid transport biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the mitochondrial respiratory trong>chatrong>introng>trong> complex i assembly biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the free ubiquittrong>introng> trong>chatrong>introng>trong> polymerization biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the mitochondrial respiratory trong>chatrong>introng>trong> complex assembly biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the aerobic electron transport trong>chatrong>introng>trong> biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the mitochondrial respiratory trong>chatrong>introng>trong> complex iv assembly biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the phosphatidylsertrong>introng>e acyl-trong>chatrong>introng>trong> remodeltrong>introng>g biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the positive regulation of myostrong>introng> light trong>chatrong>introng>trong> ktrong>introng>ase activity biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the short-trong>chatrong>introng>trong> fatty acid biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the respiratory trong>chatrong>introng>trong> complex ii assembly biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the long-trong>chatrong>introng>trong> fatty acid import biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the very long-trong>chatrong>introng>trong> fatty acid metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the phosphatidylglycerol acyl-trong>chatrong>introng>trong> remodeltrong>introng>g biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the short-trong>chatrong>introng>trong> fatty acid import biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the acylglycerol acyl-trong>chatrong>introng>trong> remodeltrong>introng>g biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the long-trong>chatrong>introng>trong> fatty-acyl-coa metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the regulation of plasma membrane long-trong>chatrong>introng>trong> fatty acid transport biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the long-trong>chatrong>introng>trong> fatty-acyl-coa catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the negative regulation of myostrong>introng>-light-trong>chatrong>introng>trong>-phosphatase activity biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the regulation of myostrong>introng>-light-trong>chatrong>introng>trong>-phosphatase activity biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the cardioliptrong>introng> acyl-trong>chatrong>introng>trong> remodeltrong>introng>g biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the protetrong>introng> side trong>chatrong>introng>trong> deglutamylation biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the triglyceride acyl-trong>chatrong>introng>trong> remodeltrong>introng>g biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the short-trong>chatrong>introng>trong> fatty acid catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the medium-trong>chatrong>introng>trong> fatty acid catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the long-trong>chatrong>introng>trong> fatty acid biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the respiratory trong>chatrong>introng>trong> complex iv assembly biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the branched-trong>chatrong>introng>trong> amtrong>introng>o acid biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the phosphatidyltrong>introng>ositol acyl-trong>chatrong>introng>trong> remodeltrong>introng>g biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the chondroittrong>introng> sulfate proteoglycan biosynthetic process, polysaccharide trong>chatrong>introng>trong> biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the heparan sulfate proteoglycan biosynthetic process, polysaccharide trong>chatrong>introng>trong> biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the long-trong>chatrong>introng>trong> fatty acid metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the mitochondrial respiratory trong>chatrong>introng>trong> complex ii assembly biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the medium-trong>chatrong>introng>trong> fatty acid metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the medium-trong>chatrong>introng>trong> fatty acid biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the long-trong>chatrong>introng>trong> fatty acid transport biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the medium-trong>chatrong>introng>trong> fatty acid transport biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the phosphatidylethanolamtrong>introng>e acyl-trong>chatrong>introng>trong> remodeltrong>introng>g biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the mitochondrial respiratory trong>chatrong>introng>trong> complex iii assembly biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the peroxisomal long-trong>chatrong>introng>trong> fatty acid import biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the dermatan sulfate proteoglycan biosynthetic process, polysaccharide trong>chatrong>introng>trong> biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the mitochondrial respiratory trong>chatrong>introng>trong> complex iii biogenesis biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the regulation of myostrong>introng> light trong>chatrong>introng>trong> ktrong>introng>ase activity biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the positive regulation of plasma membrane long-trong>chatrong>introng>trong> fatty acid transport biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the electron transport trong>chatrong>introng>trong> biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the phosphatidylcholtrong>introng>e acyl-trong>chatrong>introng>trong> remodeltrong>introng>g biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the respiratory trong>chatrong>introng>trong> complex iii assembly biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the branched-trong>chatrong>introng>trong> amtrong>introng>o acid catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the negative regulation of plasma membrane long-trong>chatrong>introng>trong> fatty acid transport biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the mitochondrial respiratory trong>chatrong>introng>trong> complex i biogenesis biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the respiratory electron transport trong>chatrong>introng>trong> biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the very long-trong>chatrong>introng>trong> fatty acid biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Biological Process Annotations 2015
genes participattrong>introng>g trong>introng> the very long-trong>chatrong>introng>trong> fatty acid catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.
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From GO Cellular Component Annotations 2015
protetrong>introng>s localized to the mitochondrial respiratory trong>chatrong>introng>trong> complex iv cellular component from the curated GO Cellular Component Annotations 2015 dataset.
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From GO Cellular Component Annotations 2015
protetrong>introng>s localized to the mitochondrial respiratory trong>chatrong>introng>trong> complex i cellular component from the curated GO Cellular Component Annotations 2015 dataset.
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From GO Cellular Component Annotations 2015
protetrong>introng>s localized to the respiratory trong>chatrong>introng>trong> complex ii cellular component from the curated GO Cellular Component Annotations 2015 dataset.
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From GO Cellular Component Annotations 2015
protetrong>introng>s localized to the mitochondrial respiratory trong>chatrong>introng>trong> complex ii cellular component from the curated GO Cellular Component Annotations 2015 dataset.
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From GO Cellular Component Annotations 2015
protetrong>introng>s localized to the respiratory trong>chatrong>introng>trong> complex iv cellular component from the curated GO Cellular Component Annotations 2015 dataset.
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From GO Cellular Component Annotations 2015
protetrong>introng>s localized to the plasma membrane respiratory trong>chatrong>introng>trong> complex i cellular component from the curated GO Cellular Component Annotations 2015 dataset.
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From GO Cellular Component Annotations 2015
protetrong>introng>s localized to the short-trong>chatrong>introng>trong> collagen trimer cellular component from the curated GO Cellular Component Annotations 2015 dataset.
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From GO Cellular Component Annotations 2015
protetrong>introng>s localized to the respiratory trong>chatrong>introng>trong> complex i cellular component from the curated GO Cellular Component Annotations 2015 dataset.
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From GO Cellular Component Annotations 2015
protetrong>introng>s localized to the mitochondrial respiratory trong>chatrong>introng>trong> cellular component from the curated GO Cellular Component Annotations 2015 dataset.
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From GO Cellular Component Annotations 2015
protetrong>introng>s localized to the respiratory trong>chatrong>introng>trong> cellular component from the curated GO Cellular Component Annotations 2015 dataset.
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From GO Cellular Component Annotations 2015
protetrong>introng>s localized to the respiratory trong>chatrong>introng>trong> complex iii cellular component from the curated GO Cellular Component Annotations 2015 dataset.
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From GO Cellular Component Annotations 2015
protetrong>introng>s localized to the mitochondrial respiratory trong>chatrong>introng>trong> complex iii cellular component from the curated GO Cellular Component Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the myostrong>introng> ii heavy trong>chatrong>introng>trong> btrong>introng>dtrong>introng>g molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the myostrong>introng> light trong>chatrong>introng>trong> btrong>introng>dtrong>introng>g molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the branched-trong>chatrong>introng>trong> amtrong>introng>o acid transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the long-trong>chatrong>introng>trong>-enoyl-coa hydratase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the short-trong>chatrong>introng>trong> fatty acid uptake transporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the long-trong>chatrong>introng>trong> acyl-coa hydrolase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the long-trong>chatrong>introng>trong> fatty acid-coa ligase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the myostrong>introng> heavy trong>chatrong>introng>trong> btrong>introng>dtrong>introng>g molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the branched-trong>chatrong>introng>trong>-amtrong>introng>o-acid transamtrong>introng>ase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the very-long-trong>chatrong>introng>trong>-(s)-2-hydroxy-acid oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the dynetrong>introng> trong>introng>termediate trong>chatrong>introng>trong> btrong>introng>dtrong>introng>g molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the dynetrong>introng> heavy trong>chatrong>introng>trong> btrong>introng>dtrong>introng>g molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the long-trong>chatrong>introng>trong> fatty acid btrong>introng>dtrong>introng>g molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the cholesterol monooxygenase (side-trong>chatrong>introng>trong>-cleavtrong>introng>g) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the clathrtrong>introng> heavy trong>chatrong>introng>trong> btrong>introng>dtrong>introng>g molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the medium-trong>chatrong>introng>trong>-acyl-coa dehydrogenase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the clathrtrong>introng> light trong>chatrong>introng>trong> btrong>introng>dtrong>introng>g molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the myostrong>introng>-light-trong>chatrong>introng>trong>-phosphatase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the long-trong>chatrong>introng>trong>-alcohol oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the long-trong>chatrong>introng>trong>-alcohol o-fatty-acyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the long-trong>chatrong>introng>trong>-fatty-acyl-coa reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the very long trong>chatrong>introng>trong> acyl-coa hydrolase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the very-long-trong>chatrong>introng>trong>-acyl-coa dehydrogenase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the medium-trong>chatrong>introng>trong> acyl-coa hydrolase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the short-trong>chatrong>introng>trong> carboxylesterase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the long-trong>chatrong>introng>trong>-3-hydroxyacyl-coa dehydrogenase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the short-trong>chatrong>introng>trong> fatty acid transporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the long-trong>chatrong>introng>trong> fatty acyl-coa btrong>introng>dtrong>introng>g molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the myostrong>introng> light trong>chatrong>introng>trong> ktrong>introng>ase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the very long-trong>chatrong>introng>trong> fatty acid-coa ligase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the medium-trong>chatrong>introng>trong>-(s)-2-hydroxy-acid oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the myostrong>introng> vi light trong>chatrong>introng>trong> btrong>introng>dtrong>introng>g molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the long-trong>chatrong>introng>trong>-acyl-coa dehydrogenase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the dynetrong>introng> light trong>introng>termediate trong>chatrong>introng>trong> btrong>introng>dtrong>introng>g molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the dynetrong>introng> light trong>chatrong>introng>trong> btrong>introng>dtrong>introng>g molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From GO Molecular Function Annotations 2015
genes performtrong>introng>g the long-trong>chatrong>introng>trong> fatty acid transporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
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From HPO Gene-Disease Associations
genes associated with the very long trong>chatrong>introng>trong> fatty acid accumulation phenotype by mapptrong>introng>g known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
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From HPO Gene-Disease Associations
genes associated with the medium trong>chatrong>introng>trong> dicarboxylic aciduria phenotype by mapptrong>introng>g known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
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From HPO Gene-Disease Associations
genes associated with the mitochondrial respiratory trong>chatrong>introng>trong> defects phenotype by mapptrong>introng>g known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
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From HPO Gene-Disease Associations
genes associated with the long trong>chatrong>introng>trong> 3 hydroxyacyl coa dehydrogenase deficiency phenotype by mapptrong>introng>g known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
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From HPO Gene-Disease Associations
genes associated with the decreased activity of mitochondrial respiratory trong>chatrong>introng>trong> phenotype by mapptrong>introng>g known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
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From HPO Gene-Disease Associations
genes associated with the abnormal activity of mitochondrial respiratory trong>chatrong>introng>trong> phenotype by mapptrong>introng>g known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
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From HPO Gene-Disease Associations
genes associated with the elevated long trong>chatrong>introng>trong> fatty acids phenotype by mapptrong>introng>g known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
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From HPO Gene-Disease Associations
genes associated with the abnormality of branched trong>chatrong>introng>trong> family amtrong>introng>o acid metabolism phenotype by mapptrong>introng>g known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
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From HPO Gene-Disease Associations
genes associated with the elevated plasma branched trong>chatrong>introng>trong> amtrong>introng>o acids phenotype by mapptrong>introng>g known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
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From HPO Gene-Disease Associations
genes associated with the abnormality of long-trong>chatrong>introng>trong> fatty-acid metabolism phenotype by mapptrong>introng>g known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
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From HPO Gene-Disease Associations
genes associated with the long-trong>chatrong>introng>trong> dicarboxylic aciduria phenotype by mapptrong>introng>g known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Dynetrong>introng> heavy trong>chatrong>introng>trong>, P-loop contatrong>introng>trong>introng>g D4 domatrong>introng> protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Carboxypeptidase N catalytic trong>chatrong>introng>trong> protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Cytoplasmic dynetrong>introng> 2 heavy trong>chatrong>introng>trong> 1 protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Immunoglobultrong>introng> J trong>chatrong>introng>trong> protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the KCNMB2, ball/trong>chatrong>introng>trong> domatrong>introng> protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Clathrtrong>introng>, heavy trong>chatrong>introng>trong>, ltrong>introng>ker protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Ktrong>introng>estrong>introng> light trong>chatrong>introng>trong> protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Collagen alpha-1(XVIII) trong>chatrong>introng>trong> protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Myostrong>introng> light trong>chatrong>introng>trong> ktrong>introng>ase-related protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the MHC class II-associated trong>introng>variant trong>chatrong>introng>trong>, trimerisation protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Teloktrong>introng>/Myostrong>introng> light trong>chatrong>introng>trong> ktrong>introng>ase protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the ATPase, F0 complex, B trong>chatrong>introng>trong>/subunit B protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Translation elongation factor EF1B, gamma trong>chatrong>introng>trong>, conserved protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Potassium-transporttrong>introng>g ATPase alpha trong>chatrong>introng>trong> 2 protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Ktrong>introng>estrong>introng> light trong>chatrong>introng>trong> repeat protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the NADH:ubiqutrong>introng>one/plastoqutrong>introng>one oxidoreductase, trong>chatrong>introng>trong> 3 protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Cytoplasmic dynetrong>introng> 1 trong>introng>termediate trong>chatrong>introng>trong> 1/2 protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the trong>Introng>tegrtrong>introng> alpha trong>chatrong>introng>trong> protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Clathrtrong>introng>, heavy trong>chatrong>introng>trong>, propeller repeat protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Peptide trong>chatrong>introng>trong> release factor class I/class II protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Clathrtrong>introng> adaptor complex, small trong>chatrong>introng>trong> protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Clathrtrong>introng>, heavy trong>chatrong>introng>trong> protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Thrombtrong>introng> light trong>chatrong>introng>trong> protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the MHC class II-associated trong>introng>variant trong>chatrong>introng>trong>/CLIP, MHC II-trong>introng>teracttrong>introng>g protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Peptide trong>chatrong>introng>trong> release factor protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Dynetrong>introng> light trong>chatrong>introng>trong>, type 1/2, conserved site protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Clathrtrong>introng>, heavy trong>chatrong>introng>trong>-related protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the NADH:ubiqutrong>introng>one/plastoqutrong>introng>one oxidoreductase, trong>chatrong>introng>trong> 6 protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the MHC class II, alpha trong>chatrong>introng>trong>, N-termtrong>introng>al protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the NADH-qutrong>introng>one oxidoreductase, trong>chatrong>introng>trong> G, C-termtrong>introng>al protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Axonemal dynetrong>introng> light trong>chatrong>introng>trong> protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Peroxysomal long trong>chatrong>introng>trong> fatty acyl transporter protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the NADH-qutrong>introng>one oxidoreductase, trong>chatrong>introng>trong> M/4 protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Spectrtrong>introng> alpha trong>chatrong>introng>trong>, SH3 domatrong>introng> protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the MHC class I alpha trong>chatrong>introng>trong>, alpha1 alpha2 domatrong>introng>s protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the NADH:ubiqutrong>introng>one oxidoreductase, trong>chatrong>introng>trong> 4, N-termtrong>introng>al protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Dynetrong>introng> heavy trong>chatrong>introng>trong>, domatrong>introng>-2 protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Dynetrong>introng> heavy trong>chatrong>introng>trong>, domatrong>introng>-1 protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Dynetrong>introng> light trong>chatrong>introng>trong>, roadblock-type protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Peptide trong>Chatrong>introng>trong> Release Factor eRF1/aRF1, N-termtrong>introng>al protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Branched-trong>chatrong>introng>trong> alpha-ketoacid dehydrogenase ktrong>introng>ase/Pyruvate dehydrogenase ktrong>introng>ase, N-termtrong>introng>al protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the MHC class I alpha trong>chatrong>introng>trong> protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Dynetrong>introng> heavy trong>chatrong>introng>trong> 1, axonemal protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the MHC class I, alpha trong>chatrong>introng>trong>, C-termtrong>introng>al protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Peptide trong>chatrong>introng>trong> release factor eRF1/aRF1 protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the ATPase, F0 complex, B trong>chatrong>introng>trong>/subunit B/MI25 protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Dynetrong>introng> light trong>chatrong>introng>trong>, type 1/2 protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Dynetrong>introng> heavy trong>chatrong>introng>trong> 6, axonemal protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Cytochrome b245, heavy trong>chatrong>introng>trong> protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Clathrtrong>introng>, heavy trong>chatrong>introng>trong>, propeller, N-termtrong>introng>al protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Clathrtrong>introng> light trong>chatrong>introng>trong> protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Dynetrong>introng> heavy trong>chatrong>introng>trong> 7, axonemal protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Dynetrong>introng> heavy trong>chatrong>introng>trong>, coiled coil stalk protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Glycoprotetrong>introng> hormone alpha trong>chatrong>introng>trong> protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the NADH:ubiqutrong>introng>one oxidoreductase, trong>chatrong>introng>trong> 2 protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the NADH-plastoqutrong>introng>one oxidoreductase, trong>chatrong>introng>trong> 5 protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Dynetrong>introng> family light trong>introng>termediate trong>chatrong>introng>trong> protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the V-type ATP synthase catalytic alpha trong>chatrong>introng>trong> protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Short-trong>chatrong>introng>trong> dehydrogenase/reductase, conserved site protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Obscurtrong>introng>-myostrong>introng> light trong>chatrong>introng>trong> ktrong>introng>ase protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the NADH-qutrong>introng>one oxidoreductase, trong>chatrong>introng>trong> I protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Clathrtrong>introng>, heavy trong>chatrong>introng>trong>, ltrong>introng>ker/propeller domatrong>introng> protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the trong>Introng>ter-alpha-trypstrong>introng> trong>introng>hibitor heavy trong>chatrong>introng>trong>, C-termtrong>introng>al protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Dynetrong>introng> light trong>chatrong>introng>trong>-related protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Clathrtrong>introng>, heavy trong>chatrong>introng>trong>, ltrong>introng>ker, core motif protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Dynetrong>introng> 1 light trong>introng>termediate trong>chatrong>introng>trong> protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Short-trong>chatrong>introng>trong> dehydrogenase/reductase SDR protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Branched-trong>chatrong>introng>trong> amtrong>introng>o acid amtrong>introng>otransferase II protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Microtubule-associated protetrong>introng> 1A/1B light trong>chatrong>introng>trong> 3C protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the MHC class II-associated trong>introng>variant trong>chatrong>introng>trong> protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Dynetrong>introng> heavy trong>chatrong>introng>trong> domatrong>introng> protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Dynetrong>introng> heavy trong>chatrong>introng>trong> protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Acyl-CoA thioesterase, long trong>chatrong>introng>trong> protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the NADH-ubiqutrong>introng>one oxidoreductase trong>chatrong>introng>trong> 4L/K protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Methylmalonyl-CoA mutase, alpha trong>chatrong>introng>trong>, catalytic protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Clathrtrong>introng>, heavy trong>chatrong>introng>trong>/VPS, 7-fold repeat protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the trong>Introng>tegrtrong>introng> alpha trong>chatrong>introng>trong>, C-termtrong>introng>al cytoplasmic region, conserved site protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From InterPro Predicted Protein Domain Annotations
protetrong>introng>s predicted to have the Collagen alpha-1(XXV) trong>chatrong>introng>trong> protetrong>introng> domatrong>introng> from the trong>Introng>terPro Predicted Protetrong>introng> Domatrong>introng> Annotations dataset.
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From MPO Gene-Phenotype Associations
gene mutations caustrong>introng>g the abnormal respiratory electron transport trong>chatrong>introng>trong> phenotype trong>introng> transgenic mice from the MPO Gene-Phenotype Associations dataset.
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From MPO Gene-Phenotype Associations
gene mutations caustrong>introng>g the abnormal immunoglobultrong>introng> heavy trong>chatrong>introng>trong> v(d)j recombtrong>introng>ation phenotype trong>introng> transgenic mice from the MPO Gene-Phenotype Associations dataset.
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From MPO Gene-Phenotype Associations
gene mutations caustrong>introng>g the abnormal immunoglobultrong>introng> light trong>chatrong>introng>trong> v-j recombtrong>introng>ation phenotype trong>introng> transgenic mice from the MPO Gene-Phenotype Associations dataset.
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From OMIM Gene-Disease Associations
genes associated with the complex i, mitochondrial respiratory trong>chatrong>introng>trong>, deficiency of phenotype from the curated OMIM Gene-Disease Associations dataset.
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From OMIM Gene-Disease Associations
genes associated with the acyl-coa dehydrogenase, medium trong>chatrong>introng>trong>, deficiency of phenotype from the curated OMIM Gene-Disease Associations dataset.
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From OMIM Gene-Disease Associations
genes associated with the mitochondrial respiratory trong>chatrong>introng>trong> complex ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
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From OMIM Gene-Disease Associations
genes associated with the acyl-coa dehydrogenase, short-trong>chatrong>introng>trong>, deficiency of phenotype from the curated OMIM Gene-Disease Associations dataset.
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From OMIM Gene-Disease Associations
genes associated with the [kappa light trong>chatrong>introng>trong> deficiency] phenotype from the curated OMIM Gene-Disease Associations dataset.
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From OMIM Gene-Disease Associations
genes associated with the branched-trong>chatrong>introng>trong> ketoacid dehydrogenase ktrong>introng>ase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
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From Phosphosite Textmining Biological Term Annotations
protetrong>introng>s co-occurtrong>introng>g with the biological term reverse-transcriptase-polymerase-trong>chatrong>introng>trong>-reaction trong>introng> abstracts of publications describtrong>introng>g phosphosites from the Phosphosite Textmtrong>introng>trong>introng>g Biological Term Annotations dataset.
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From Reactome Pathways 2014
protetrong>introng>s participattrong>introng>g trong>introng> the RNA Polymerase III trong>Chatrong>introng>trong> Elongation pathway from the Reactome Pathways dataset.
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From Reactome Pathways 2014
protetrong>introng>s participattrong>introng>g trong>introng> the Acyl trong>chatrong>introng>trong> remodeltrong>introng>g of CL pathway from the Reactome Pathways dataset.
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From Reactome Pathways 2014
protetrong>introng>s participattrong>introng>g trong>introng> the RNA Polymerase I trong>Chatrong>introng>trong> Elongation pathway from the Reactome Pathways dataset.
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From Reactome Pathways 2014
protetrong>introng>s participattrong>introng>g trong>introng> the Branched-trong>chatrong>introng>trong> amtrong>introng>o acid catabolism pathway from the Reactome Pathways dataset.
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From Reactome Pathways 2014
protetrong>introng>s participattrong>introng>g trong>introng> the Acyl trong>chatrong>introng>trong> remodelltrong>introng>g of PG pathway from the Reactome Pathways dataset.
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From Reactome Pathways 2014
protetrong>introng>s participattrong>introng>g trong>introng> the Peptide trong>chatrong>introng>trong> elongation pathway from the Reactome Pathways dataset.
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From Reactome Pathways 2014
protetrong>introng>s participattrong>introng>g trong>introng> the Acyl trong>chatrong>introng>trong> remodelltrong>introng>g of PE pathway from the Reactome Pathways dataset.
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From Reactome Pathways 2014
protetrong>introng>s participattrong>introng>g trong>introng> the Acyl trong>chatrong>introng>trong> remodelltrong>introng>g of PC pathway from the Reactome Pathways dataset.
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From Reactome Pathways 2014
protetrong>introng>s participattrong>introng>g trong>introng> the Acyl trong>chatrong>introng>trong> remodelltrong>introng>g of PI pathway from the Reactome Pathways dataset.
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From Reactome Pathways 2014
protetrong>introng>s participattrong>introng>g trong>introng> the Acyl trong>chatrong>introng>trong> remodelltrong>introng>g of PS pathway from the Reactome Pathways dataset.
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From Reactome Pathways 2014
protetrong>introng>s participattrong>introng>g trong>introng> the Synthesis of very long-trong>chatrong>introng>trong> fatty acyl-CoAs pathway from the Reactome Pathways dataset.
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From Reactome Pathways 2014
protetrong>introng>s participattrong>introng>g trong>introng> the Acyl trong>chatrong>introng>trong> remodeltrong>introng>g of DAG and TAG pathway from the Reactome Pathways dataset.
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From TISSUES Text-mining Tissue Protein Expression Evidence Scores
protetrong>introng>s co-occurtrong>introng>g with the tissue sympathetic trong>chatrong>introng>trong> trong>introng> abstracts of biomedical publications from the TISSUES Text-mtrong>introng>trong>introng>g Tissue Protetrong>introng> Expression Evidence Scores dataset.
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From WikiPathways Pathways 2014
protetrong>introng>s participattrong>introng>g trong>introng> the Electron Transport trong>Chatrong>introng>trong>(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset.
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From WikiPathways Pathways 2014
protetrong>introng>s participattrong>introng>g trong>introng> the Electron Transport trong>Chatrong>introng>trong>(Mus musculus) pathway from the WikiPathways Pathways 2014 dataset.
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From DisGeNET Gene-Disease Associations
genes associated with the disease Mitochondrial Respiratory trong>Chatrong>introng>trong> Deficiencies trong>introng> GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
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From DisGeNET Gene-Disease Associations
genes associated with the disease Long trong>Chatrong>introng>trong> Acyl-Coa Dehydrogenase Deficiency trong>introng> GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
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From DisGeNET Gene-Disease Associations
genes associated with the disease Very Long trong>Chatrong>introng>trong> Acyl-Coa Dehydrogenase Deficiency trong>introng> GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
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From DisGeNET Gene-Disease Associations
genes associated with the disease Medium-trong>Chatrong>introng>trong> Acyl-Coenzyme A Dehydrogenase Deficiency trong>introng> GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
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From DisGeNET Gene-Disease Associations
genes associated with the disease Light trong>Chatrong>introng>trong> Disease trong>introng> GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
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From DisGeNET Gene-Disease Associations
genes associated with the disease Light trong>Chatrong>introng>trong> Myeloma trong>introng> GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
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From DisGeNET Gene-Disease Associations
genes associated with the disease Gamma-trong>Chatrong>introng>trong> Disease trong>introng> GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
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From DisGeNET Gene-Disease Associations
genes associated with the disease Light trong>Chatrong>introng>trong> (Al) Amyloidosis trong>introng> GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
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From DisGeNET Gene-Disease Associations
genes associated with the disease Branched-trong>Chatrong>introng>trong> Keto Acid Dehydrogenase Ktrong>introng>ase Deficiency trong>introng> GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
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From DisGeNET Gene-Disease Associations
genes associated with the disease Other Disorders Of Branched-trong>Chatrong>introng>trong> Amtrong>introng>o-Acid Metabolism trong>introng> GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
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From DisGeNET Gene-Disease Associations
genes associated with the disease Electron Transport trong>Chatrong>introng>trong> Deficiencies, Mitochondrial trong>introng> GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
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From DisGeNET Gene-Disease Associations
genes associated with the disease Long-trong>Chatrong>introng>trong> Dicarboxylic Aciduria trong>introng> GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
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From DisGeNET Gene-Disease Associations
genes associated with the disease Mitochondrial Short-trong>Chatrong>introng>trong> Enoyl-Coa Hydratase 1 Deficiency trong>introng> GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
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From DisGeNET Gene-Disease Associations
genes associated with the disease Long trong>Chatrong>introng>trong> 3-Hydroxyacyl-Coa Dehydrogenase Deficiency trong>introng> GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
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From DisGeNET Gene-Disease Associations
genes associated with the disease Heavy trong>Chatrong>introng>trong> Deposition Disease trong>introng> GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
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From DisGeNET Gene-Phenotype Associations
genes associated with the phenotype Very Long trong>Chatrong>introng>trong> Fatty Acid Accumulation trong>introng> GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
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From DisGeNET Gene-Phenotype Associations
genes associated with the phenotype Medium trong>Chatrong>introng>trong> Dicarboxylic Aciduria trong>introng> GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
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From DisGeNET Gene-Phenotype Associations
genes associated with the phenotype Mitochondrial Respiratory trong>Chatrong>introng>trong> Defects trong>introng> GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
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From DisGeNET Gene-Phenotype Associations
genes associated with the phenotype Elevated Plasma Branched trong>Chatrong>introng>trong> Amtrong>introng>o Acids trong>introng> GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
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From DisGeNET Gene-Phenotype Associations
genes associated with the phenotype Decreased Activity Of Mitochondrial Respiratory trong>Chatrong>introng>trong> trong>introng> GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
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From DisGeNET Gene-Phenotype Associations
genes associated with the phenotype Abnormal Activity Of Mitochondrial Respiratory trong>Chatrong>introng>trong> trong>introng> GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the mitochondrial respiratory trong>chatrong>introng>trong> complex I assembly biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the long-trong>chatrong>introng>trong> fatty-acyl-CoA biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the very long-trong>chatrong>introng>trong> fatty acid biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the mitochondrial respiratory trong>chatrong>introng>trong> complex II assembly biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the medium-trong>chatrong>introng>trong> fatty-acyl-CoA catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the mitochondrial respiratory trong>chatrong>introng>trong> complex III assembly biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the long-trong>chatrong>introng>trong> fatty-acyl-CoA catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the medium-trong>chatrong>introng>trong> fatty acid biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the free ubiquittrong>introng> trong>chatrong>introng>trong> polymerization biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the branched-trong>chatrong>introng>trong> amtrong>introng>o acid catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the negative regulation of myostrong>introng>-light-trong>chatrong>introng>trong>-phosphatase activity biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the regulation of myostrong>introng>-light-trong>chatrong>introng>trong>-phosphatase activity biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the positive regulation of myostrong>introng>-light-trong>chatrong>introng>trong>-phosphatase activity biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the long-trong>chatrong>introng>trong> fatty acid metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the branched-trong>chatrong>introng>trong> amtrong>introng>o acid biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the long-trong>chatrong>introng>trong> fatty acid biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the cardioliptrong>introng> acyl-trong>chatrong>introng>trong> remodeltrong>introng>g biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the long-trong>chatrong>introng>trong> fatty-acyl-CoA metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the heparan sulfate proteoglycan biosynthetic process, polysaccharide trong>chatrong>introng>trong> biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the mitochondrial respiratory trong>chatrong>introng>trong> complex assembly biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the positive regulation of myostrong>introng> light trong>chatrong>introng>trong> ktrong>introng>ase activity biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the long-trong>chatrong>introng>trong> fatty acid transport biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the branched-trong>chatrong>introng>trong> amtrong>introng>o acid metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the short-trong>chatrong>introng>trong> fatty acid catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the phosphatidylcholtrong>introng>e acyl-trong>chatrong>introng>trong> remodeltrong>introng>g biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the negative regulation of long-trong>chatrong>introng>trong> fatty acid import across plasma membrane biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the very long-trong>chatrong>introng>trong> fatty acid metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the phosphatidylglycerol acyl-trong>chatrong>introng>trong> remodeltrong>introng>g biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the long-trong>chatrong>introng>trong> fatty acid import across plasma membrane biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the medium-trong>chatrong>introng>trong> fatty acid metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the medium-trong>chatrong>introng>trong> fatty acid catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the respiratory electron transport trong>chatrong>introng>trong> biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the electron transport trong>chatrong>introng>trong> biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the short-trong>chatrong>introng>trong> fatty acid transport biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the long-trong>chatrong>introng>trong> fatty acid import trong>introng>to peroxisome biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the very long-trong>chatrong>introng>trong> fatty acid catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the positive regulation of long-trong>chatrong>introng>trong> fatty acid import across plasma membrane biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the very long-trong>chatrong>introng>trong> fatty-acyl-CoA catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the long-trong>chatrong>introng>trong> fatty acid catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the short-trong>chatrong>introng>trong> fatty acid metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the very long-trong>chatrong>introng>trong> fatty-acyl-CoA metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the medium-trong>chatrong>introng>trong> fatty-acyl-CoA metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the phosphatidylethanolamtrong>introng>e acyl-trong>chatrong>introng>trong> remodeltrong>introng>g biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the respiratory trong>chatrong>introng>trong> complex IV assembly biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the phosphatidyltrong>introng>ositol acyl-trong>chatrong>introng>trong> remodeltrong>introng>g biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the phosphatidylsertrong>introng>e acyl-trong>chatrong>introng>trong> remodeltrong>introng>g biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the protetrong>introng> side trong>chatrong>introng>trong> deglutamylation biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the acylglycerol acyl-trong>chatrong>introng>trong> remodeltrong>introng>g biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the short-trong>chatrong>introng>trong> fatty acid transmembrane transport biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the dermatan sulfate proteoglycan biosynthetic process, polysaccharide trong>chatrong>introng>trong> biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the chondroittrong>introng> sulfate proteoglycan biosynthetic process, polysaccharide trong>chatrong>introng>trong> biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the branched-trong>chatrong>introng>trong> amtrong>introng>o acid transport biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the positive regulation of free ubiquittrong>introng> trong>chatrong>introng>trong> polymerization biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the aerobic electron transport trong>chatrong>introng>trong> biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the triglyceride acyl-trong>chatrong>introng>trong> remodeltrong>introng>g biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the short-trong>chatrong>introng>trong> fatty acid biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the medium-trong>chatrong>introng>trong> fatty acid transport biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the respiratory trong>chatrong>introng>trong> complex II assembly biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the respiratory trong>chatrong>introng>trong> complex III assembly biological process from the curated GO Biological Process Annotations 2023 dataset.
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From GO Biological Process Annotations 2023
genes participattrong>introng>g trong>introng> the regulation of myostrong>introng> light trong>chatrong>introng>trong> ktrong>introng>ase activity biological process from the curated GO Biological Process Annotations 2023 dataset.
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