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Achilles Cell Line Gene Essentiality Profiles DatasetFrom Achilles Fitness scores for cell lines following single gene knockdowns |
BioGPS Cell Line Gene Expression Profiles DatasetFrom BioGPS mRNA expression profiles for the NCI-60 panel of cancer cell lines |
BioGPS Human Cell Type and Tissue Gene Expression Profiles DatasetFrom BioGPS mRNA expression profiles for human tissues and cell types |
BioGPS Mouse Cell Type and Tissue Gene Expression Profiles DatasetFrom BioGPS mRNA expression profiles for mouse tissues and cell types |
CCLE Cell Line Gene CNV Profiles DatasetFrom Cancer Cell Line Encyclopedia Gene-level copy number variation profiles for cancer cell lines |
CCLE Cell Line Gene Expression Profiles DatasetFrom Cancer Cell Line Encyclopedia mRNA microarray expression profiles for cancer cell lines |
CCLE Cell Line Gene Mutation Profiles DatasetFrom Cancer Cell Line Encyclopedia Gene-level mutation profiles for cancer cell lines |
COSMIC Cell Line Gene CNV Profiles DatasetFrom Catalogue of Somatic Mutations In Cancer Gene-level copy number variation profiles for cancer cell lines |
COSMIC Cell Line Gene Mutation Profiles DatasetFrom Catalogue of Somatic Mutations In Cancer Gene mutations in cancer cell lines from low-throughput or high-throughput studies |
GDSC Cell Line Gene Expression Profiles DatasetFrom Genomics of Drug Sensitivity in Cancer mRNA microarray expression profiles for cancer cell lines |
Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles DatasetFrom Heiser et al., PNAS, 2011 mRNA expression profiles for breast cancer cell lines measured by microarray |
HPA Cell Line Gene Expression Profiles DatasetFrom Human Protein Atlas RNA-seq gene expression profiles for cell lines from HPA |
HPM Cell Type and Tissue Protein Expression Profiles DatasetFrom Human Proteome Map Protein expression profiles for tissues and cell types |
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles DatasetFrom Klijn et al., Nat. Biotechnol., 2015 Gene-level copy number variation profiles for cancer cell lines |
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles DatasetFrom Klijn et al., Nat. Biotechnol., 2015 RNA-seq gene expression profiles for cancer cell lines |
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles DatasetFrom Klijn et al., Nat. Biotechnol., 2015 SNP gene mutations in cancer cell lines identified by microarray |
ProteomicsDB Cell Type and Tissue Protein Expression Profiles DatasetFrom Proteomics Database Protein expression profiles for tissues and cell types reprocessed from many proteomics datasets |
Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles DatasetFrom Roadmap Epigenomics DNA methylation profiles for primary cell types and tissues |
Roadmap Epigenomics Cell and Tissue Gene Expression Profiles DatasetFrom Roadmap Epigenomics mRNA expression profiles for primary cell types and tissues |
Sanger Dependency Map Cancer Cell Line Proteomics DatasetFrom Sanger Cancer Dependency Map Protein intensity values acquired using data-independent acquisition mass spectrometry (DIA-MS). |
Tabula Sapiens Gene-Cell Associations DatasetFrom Tabula Sapiens Gene expression data from Tabula Sapiens scRNA-seq counts |
CCLE Cell Line Proteomics DatasetFrom Cancer Cell Line Encyclopedia Protein intensity values acquired using mass spectrometry across human cancerous cell lines |
HuBMAP Azimuth Cell Type Annotations DatasetFrom The Human BioMolecular Atlas Program Gene-cell type annotations from integrated reference scRNA-seq gene expression profiles |
CellMarker Gene-Cell Type Associations DatasetFrom CellMarker Cell type markers across various tissues from human and mouse scRNA-seq |
Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures DatasetFrom Replogle et al., Cell, 2022 Gene expression profiles in the K562 cell line following CRISPRi genetic perturbation |
Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures DatasetFrom Replogle et al., Cell, 2022 Gene expression profiles in the K562 cell line following CRISPRi genetic perturbation of essential genes |
Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures DatasetFrom Replogle et al., Cell, 2022 Gene expression profiles in the RPE1 cell line following CRISPRi genetic perturbation of essential genes |
CM4AI U2OS Cell Map Protein Localization Assemblies DatasetFrom Cell Maps for AI Protein localization assemblies constructed from integrating AP-MS biomolecular interaction and IF imaging data |
CM4AI KOLF21J CRISPRi Gene Perturbation Atlas DatasetFrom Cell Maps for AI Gene expression profiles in the KOLF2.1J cell line following CRISPRi genetic perturbation |
CD4 GeneCD4 molecule This gene encodes the CD4 membrane glycoprotein of T lymphocytes. The CD4 antigen acts as a coreceptor with the T-cell receptor on the T lymphocyte to recognize antigens displayed by an antigen presenting cell in the context of class II MHC molecules. The CD4 antigen is also a primary receptor for entry of the human immunodeficiency virus through interactions with the HIV Env gp120 subunit. This gene is expressed not only in T lymphocytes, but also in B cells, macrophages, granulocytes, as well as in various regions of the brain. The protein functions to initiate or augment the early phase of T-cell activation, and may function as an important mediator of indirect neuronal damage in infectious and immune-mediated diseases of the central nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, May 2020] |
SRD5A2 Genesteroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) This gene encodes a microsomal protein expressed at high levels in androgen-sensitive tissues such as the prostate. The encoded protein is active at acidic pH and is sensitive to the 4-azasteroid inhibitor finasteride. Deficiencies in this gene can result in male pseudohermaphroditism, specifically pseudovaginal perineoscrotal hypospadias (PPSH). [provided by RefSeq, Jul 2008] |
SRD5A1 Genesteroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) Steroid 5-alpha-reductase (EC 1.3.99.5) catalyzes the conversion of testosterone into the more potent androgen, dihydrotestosterone (DHT). Also see SRD5A2 (MIM 607306).[supplied by OMIM, Mar 2008] |
SRD5A1P1 Genesteroid-5-alpha-reductase, alpha polypeptide 1 pseudogene 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha pseudogene) |
TRAV23DV6 GeneT cell receptor alpha variable 23/delta variable 6 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ32 GeneT cell receptor alpha joining 32 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
DEFA6 Genedefensin, alpha 6, Paneth cell-specific Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 6, is highly expressed in the secretory granules of Paneth cells of the small intestine, and likely plays a role in host defense of human bowel. [provided by RefSeq, Oct 2014] |
DEFA5 Genedefensin, alpha 5, Paneth cell-specific Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several of the alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 5, is highly expressed in the secretory granules of Paneth cells of the ileum. [provided by RefSeq, Oct 2014] |
TRAJ29 GeneT cell receptor alpha joining 29 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ28 GeneT cell receptor alpha joining 28 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ27 GeneT cell receptor alpha joining 27 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ26 GeneT cell receptor alpha joining 26 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ25 GeneT cell receptor alpha joining 25 (non-functional) T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ24 GeneT cell receptor alpha joining 24 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ23 GeneT cell receptor alpha joining 23 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ22 GeneT cell receptor alpha joining 22 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ21 GeneT cell receptor alpha joining 21 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ20 GeneT cell receptor alpha joining 20 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV5 GeneT cell receptor alpha variable 5 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV29DV5 GeneT cell receptor alpha variable 29/delta variable 5 (gene/pseudogene) T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV14DV4 GeneT cell receptor alpha variable 14/delta variable 4 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ16 GeneT cell receptor alpha joining 16 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ17 GeneT cell receptor alpha joining 17 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ14 GeneT cell receptor alpha joining 14 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ15 GeneT cell receptor alpha joining 15 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ12 GeneT cell receptor alpha joining 12 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ13 GeneT cell receptor alpha joining 13 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ10 GeneT cell receptor alpha joining 10 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ11 GeneT cell receptor alpha joining 11 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ18 GeneT cell receptor alpha joining 18 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ19 GeneT cell receptor alpha joining 19 (non-functional) T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV20 GeneT cell receptor alpha variable 20 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
PTCRA Genepre T-cell antigen receptor alpha The protein encoded by this gene is a single-pass type I membrane protein that is found in immmature but not mature T-cells. Along with TCRB and CD3 complex, the encoded protein forms the pre-T-cell receptor complex, which regulates early T-cell development. Four transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011] |
TRAV36DV7 GeneT cell receptor alpha variable 36/delta variable 7 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ49 GeneT cell receptor alpha joining 49 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ48 GeneT cell receptor alpha joining 48 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ41 GeneT cell receptor alpha joining 41 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ40 GeneT cell receptor alpha joining 40 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ43 GeneT cell receptor alpha joining 43 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ42 GeneT cell receptor alpha joining 42 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ45 GeneT cell receptor alpha joining 45 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ44 GeneT cell receptor alpha joining 44 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ47 GeneT cell receptor alpha joining 47 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ46 GeneT cell receptor alpha joining 46 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV38-2DV8 GeneT cell receptor alpha variable 38-2/delta variable 8 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV31 GeneT cell receptor alpha variable 31 (pseudogene) T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ30 GeneT cell receptor alpha joining 30 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ31 GeneT cell receptor alpha joining 31 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ33 GeneT cell receptor alpha joining 33 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ34 GeneT cell receptor alpha joining 34 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ35 GeneT cell receptor alpha joining 35 (non-functional) T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ36 GeneT cell receptor alpha joining 36 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ37 GeneT cell receptor alpha joining 37 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ38 GeneT cell receptor alpha joining 38 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ39 GeneT cell receptor alpha joining 39 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV2 GeneT cell receptor alpha variable 2 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV3 GeneT cell receptor alpha variable 3 (gene/pseudogene) T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV4 GeneT cell receptor alpha variable 4 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV6 GeneT cell receptor alpha variable 6 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV7 GeneT cell receptor alpha variable 7 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
PARD6A Genepar-6 family cell polarity regulator alpha This gene is a member of the PAR6 family and encodes a protein with a PSD95/Discs-large/ZO1 (PDZ) domain and a semi-Cdc42/Rac interactive binding (CRIB) domain. This cell membrane protein is involved in asymmetrical cell division and cell polarization processes as a member of a multi-protein complex. The protein also has a role in the epithelial-to-mesenchymal transition (EMT) that characterizes the invasive phenotype associated with metastatic carcinomas. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] |
TRAV22 GeneT cell receptor alpha variable 22 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV21 GeneT cell receptor alpha variable 21 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV27 GeneT cell receptor alpha variable 27 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV25 GeneT cell receptor alpha variable 25 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV24 GeneT cell receptor alpha variable 24 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV28 GeneT cell receptor alpha variable 28 (pseudogene) T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ58 GeneT cell receptor alpha joining 58 (non-functional) T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ56 GeneT cell receptor alpha joining 56 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ57 GeneT cell receptor alpha joining 57 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ54 GeneT cell receptor alpha joining 54 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV26-1 GeneT cell receptor alpha variable 26-1 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV26-2 GeneT cell receptor alpha variable 26-2 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV9-1 GeneT cell receptor alpha variable 9-1 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV9-2 GeneT cell receptor alpha variable 9-2 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ61 GeneT cell receptor alpha joining 61 (non-functional) T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ60 GeneT cell receptor alpha joining 60 (pseudogene) T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV18 GeneT cell receptor alpha variable 18 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV19 GeneT cell receptor alpha variable 19 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV10 GeneT cell receptor alpha variable 10 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV11 GeneT cell receptor alpha variable 11 (pseudogene) T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV16 GeneT cell receptor alpha variable 16 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV17 GeneT cell receptor alpha variable 17 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV15 GeneT cell receptor alpha variable 15 (pseudogene) T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV8-1 GeneT cell receptor alpha variable 8-1 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV8-3 GeneT cell receptor alpha variable 8-3 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV8-2 GeneT cell receptor alpha variable 8-2 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV8-5 GeneT cell receptor alpha variable 8-5 (pseudogene) T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV8-4 GeneT cell receptor alpha variable 8-4 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV8-7 GeneT cell receptor alpha variable 8-7 (non-functional) T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV8-6 GeneT cell receptor alpha variable 8-6 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAC GeneT cell receptor alpha constant T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRA GeneT cell receptor alpha locus
Enables signaling receptor activity. Contributes to peptide antigen binding activity. Involved in T cell activation involved in immune response; T cell mediated cytotoxicity directed against tumor cell target; and detection of tumor cell. Located in cell surface. Part of |
TRAJ59 GeneT cell receptor alpha joining 59 (non-functional) T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ52 GeneT cell receptor alpha joining 52 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ53 GeneT cell receptor alpha joining 53 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ50 GeneT cell receptor alpha joining 50 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ51 GeneT cell receptor alpha joining 51 (pseudogene) T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ55 GeneT cell receptor alpha joining 55 (pseudogene) T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV41 GeneT cell receptor alpha variable 41 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV40 GeneT cell receptor alpha variable 40 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV1-1 GeneT cell receptor alpha variable 1-1 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV1-2 GeneT cell receptor alpha variable 1-2 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV38-1 GeneT cell receptor alpha variable 38-1 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV34 GeneT cell receptor alpha variable 34 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV35 GeneT cell receptor alpha variable 35 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV37 GeneT cell receptor alpha variable 37 (pseudogene) T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV30 GeneT cell receptor alpha variable 30 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV32 GeneT cell receptor alpha variable 32 (pseudogene) T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV33 GeneT cell receptor alpha variable 33 (pseudogene) T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV39 GeneT cell receptor alpha variable 39 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV12-1 GeneT cell receptor alpha variable 12-1 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV12-3 GeneT cell receptor alpha variable 12-3 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV12-2 GeneT cell receptor alpha variable 12-2 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV13-1 GeneT cell receptor alpha variable 13-1 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV13-2 GeneT cell receptor alpha variable 13-2 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ4 GeneT cell receptor alpha joining 4 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ5 GeneT cell receptor alpha joining 5 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ6 GeneT cell receptor alpha joining 6 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ7 GeneT cell receptor alpha joining 7 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ1 GeneT cell receptor alpha joining 1 (non-functional) T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ2 GeneT cell receptor alpha joining 2 (non-functional) T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ3 GeneT cell receptor alpha joining 3 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ8 GeneT cell receptor alpha joining 8 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAJ9 GeneT cell receptor alpha joining 9 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
ITGA2 Geneintegrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) This gene encodes the alpha subunit of a transmembrane receptor for collagens and related proteins. The encoded protein forms a heterodimer with a beta subunit and mediates the adhesion of platelets and other cell types to the extracellular matrix. Loss of the encoded protein is associated with bleeding disorder platelet-type 9. Antibodies against this protein are found in several immune disorders, including neonatal alloimmune thrombocytopenia. This gene is located adjacent to a related alpha subunit gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] |
ITGA3 Geneintegrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function as cell surface adhesion molecules. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 3 subunit. This subunit joins with a beta 1 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. Expression of this gene may be correlated with breast cancer metastasis. [provided by RefSeq, Oct 2015] |
ITGA4 Geneintegrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 4 subunit. This subunit associates with a beta 1 or beta 7 subunit to form an integrin that may play a role in cell motility and migration. This integrin is a therapeutic target for the treatment of multiple sclerosis, Crohn's disease and inflammatory bowel disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] |
ITGA5 Geneintegrin, alpha 5 (fibronectin receptor, alpha polypeptide) The product of this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha subunit and a beta subunit that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 5 subunit. This subunit associates with the beta 1 subunit to form a fibronectin receptor. This integrin may promote tumor invasion, and higher expression of this gene may be correlated with shorter survival time in lung cancer patients. Note that the integrin alpha 5 and integrin alpha V subunits are encoded by distinct genes. [provided by RefSeq, Oct 2015] |
ITGAL Geneintegrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) ITGAL encodes the integrin alpha L chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form the integrin lymphocyte function-associated antigen-1 (LFA-1), which is expressed on all leukocytes. LFA-1 plays a central role in leukocyte intercellular adhesion through interactions with its ligands, ICAMs 1-3 (intercellular adhesion molecules 1 through 3), and also functions in lymphocyte costimulatory signaling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
ITGAE Geneintegrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes an I-domain-containing alpha integrin that undergoes post-translational cleavage in the extracellular domain, yielding disulfide-linked heavy and light chains. In combination with the beta 7 integrin, this protein forms the E-cadherin binding integrin known as the human mucosal lymphocyte-1 antigen. This protein is preferentially expressed in human intestinal intraepithelial lymphocytes (IEL), and in addition to a role in adhesion, it may serve as an accessory molecule for IEL activation. [provided by RefSeq, Jul 2008] |
LOC100421093 Genekaryopherin alpha 3 (importin alpha 4) pseudogene |
LOC401913 GeneABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) pseudogene |
LOC100422717 Genepterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2 pseudogene |
TFAP2A Genetranscription factor AP-2 alpha (activating enhancer binding protein 2 alpha) The protein encoded by this gene is a transcription factor that binds the consensus sequence 5'-GCCNNNGGC-3'. The encoded protein functions as either a homodimer or as a heterodimer with similar family members. This protein activates the transcription of some genes while inhibiting the transcription of others. Defects in this gene are a cause of branchiooculofacial syndrome (BOFS). Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009] |
KPNA7 Genekaryopherin alpha 7 (importin alpha 8) The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import, but exhibits different nuclear localization signal binding specificity compared to other members of the family. A pseudogene of this gene has been defined on chromosome 5. [provided by RefSeq, Jul 2016] |
KPNA6 Genekaryopherin alpha 6 (importin alpha 7) Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. The protein encoded by this gene is a member of the importin alpha family. [provided by RefSeq, Jul 2008] |
KPNA5 Genekaryopherin alpha 5 (importin alpha 6) The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC) which consists of 60-100 proteins and is probably 120 million daltons in molecular size. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion; larger molecules are transported by an active process. Most nuclear proteins contain short basic amino acid sequences known as nuclear localization signals (NLSs). KPNA5 protein belongs to the importin alpha protein family and is thought to be involved in NLS-dependent protein import into the nucleus. [provided by RefSeq, Jul 2008] |
KPNA4 Genekaryopherin alpha 4 (importin alpha 3) The nuclear import of karyophilic proteins is directed by short amino acid sequences termed nuclear localization signals (NLSs). Karyopherins, or importins, are cytoplasmic proteins that recognize NLSs and dock NLS-containing proteins to the nuclear pore complex. The protein encoded by this gene shares the sequence similarity with Xenopus importin-alpha and Saccharomyces cerevisiae Srp1. This protein is found to interact with the NLSs of DNA helicase Q1 and SV40 T antigen. [provided by RefSeq, Jul 2008] |
KPNA3 Genekaryopherin alpha 3 (importin alpha 4) The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import. [provided by RefSeq, Jan 2009] |
KPNA2 Genekaryopherin alpha 2 (RAG cohort 1, importin alpha 1) The import of proteins into the nucleus is a process that involves at least 2 steps. The first is an energy-independent docking of the protein to the nuclear envelope and the second is an energy-dependent translocation through the nuclear pore complex. Imported proteins require a nuclear localization sequence (NLS) which generally consists of a short region of basic amino acids or 2 such regions spaced about 10 amino acids apart. Proteins involved in the first step of nuclear import have been identified in different systems. These include the Xenopus protein importin and its yeast homolog, SRP1 (a suppressor of certain temperature-sensitive mutations of RNA polymerase I in Saccharomyces cerevisiae), which bind to the NLS. KPNA2 protein interacts with the NLSs of DNA helicase Q1 and SV40 T antigen and may be involved in the nuclear transport of proteins. KPNA2 also may play a role in V(D)J recombination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] |
KPNA1 Genekaryopherin alpha 1 (importin alpha 5) The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import. This protein interacts with the recombination activating gene 1 (RAG1) protein and is a putative substrate of the RAG1 ubiquitin ligase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] |
LOC100533843 Genekaryopherin alpha 2 (RAG cohort 1, importin alpha 1) pseudogene |
LOC402715 Genekaryopherin alpha 2 (RAG cohort 1, importin alpha 1) pseudogene |
PCBD2 Genepterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2 Predicted to enable 4-alpha-hydroxytetrahydrobiopterin dehydratase activity. Involved in positive regulation of DNA-templated transcription. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025] |
ST8SIA6 GeneST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 This gene encodes a member of the glycosyltransferase 29 protein family. Members of this protein family synthesize sialylglycoconjugates. Sialylation may contribute to multidrug resistance in cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016] |
ST8SIA5 GeneST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 The protein encoded by this gene is a type II membrane protein that may be present in the Golgi apparatus. The encoded protein, which is a member of glycosyltransferase family 29, may be involved in the synthesis of gangliosides GD1c, GT1a, GQ1b, and GT3 from GD1a, GT1b, GM1b, and GD3, respectively. [provided by RefSeq, Jul 2008] |
ST8SIA4 GeneST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 The protein encoded by this gene catalyzes the polycondensation of alpha-2,8-linked sialic acid required for the synthesis of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). The encoded protein, which is a member of glycosyltransferase family 29, is a type II membrane protein that may be present in the Golgi apparatus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
ST8SIA2 GeneST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 The protein encoded by this gene is a type II membrane protein that is thought to catalyze the transfer of sialic acid from CMP-sialic acid to N-linked oligosaccharides and glycoproteins. The encoded protein may be found in the Golgi apparatus and may be involved in the production of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). This protein is a member of glycosyltransferase family 29. [provided by RefSeq, Jul 2008] |
ST8SIA1 GeneST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 Gangliosides are membrane-bound glycosphingolipids containing sialic acid. Ganglioside GD3 is known to be important for cell adhesion and growth of cultured malignant cells. The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to GM3 to produce gangliosides GD3 and GT3. The encoded protein may be found in the Golgi apparatus and is a member of glycosyltransferase family 29. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2015] |
LOC643513 Genekaryopherin alpha 2 (RAG cohort 1, importin alpha 1) pseudogene |
LOC391798 Genekaryopherin alpha 7 (importin alpha 8) pseudogene |
PCBD1 Genepterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein functions as both a dehydratase involved in tetrahydrobiopterin biosynthesis, and as a cofactor for HNF1A-dependent transcription. A deficiency of this enzyme leads to hyperphenylalaninemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] |
DEFA1A3 Genedefensin, alpha 1 and alpha 3, variable copy number locus |
ST8SIA3 GeneST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 Enables alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity and identical protein binding activity. Involved in several processes, including ganglioside biosynthetic process; glycoprotein metabolic process; and sialylation. Predicted to be located in Golgi membrane. [provided by Alliance of Genome Resources, Mar 2025] |
AGL Geneamylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] |
LOC100421109 Genekaryopherin alpha 4 (importin alpha 3) pseudogene |
ABO GeneABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) This gene encodes proteins related to the first discovered blood group system, ABO. Variation in the ABO gene (chromosome 9q34.2) is the basis of the ABO blood group, thus the presence of an allele determines the blood group in an individual. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. [provided by RefSeq, Apr 2022] |
CRTAM Genecytotoxic and regulatory T cell molecule The CRTAM gene is upregulated in CD4 (see MIM 186940)-positive and CD8 (see CD8A; MIM 186910)-positive T cells and encodes a type I transmembrane protein with V and C1-like Ig domains (Yeh et al., 2008 [PubMed 18329370]).[supplied by OMIM, Feb 2009] |
MZB1 Genemarginal zone B and B1 cell-specific protein Involved in positive regulation of cell population proliferation. Located in cytoplasm and extracellular region. [provided by Alliance of Genome Resources, Mar 2025] |
SPDYE12P Genespeedy/RINGO cell cycle regulator family member E12, pseudogene Predicted to enable protein kinase binding activity. [provided by Alliance of Genome Resources, Mar 2025] |
LOC101060086 Genecell cycle exit and neuronal differentiation protein 1-like |
CDC27P10 Genecell division cycle 27 pseudogene 10 |
CDC27P11 Genecell division cycle 27 pseudogene 11 |
LOC100420540 Genecell division cycle associated 8 pseudogene |
BTG4 GeneB-cell translocation gene 4 The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein can induce G1 arrest in the cell cycle. [provided by RefSeq, Jul 2008] |
BTG1 GeneB-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 in the G0/G1 phases of the cell cycle and downregulated when cells progressed through G1. The encoded protein interacts with several nuclear receptors, and functions as a coactivator of cell differentiation. This locus has been shown to be involved in a t(8;12)(q24;q22) chromosomal translocation in a case of B-cell chronic lymphocytic leukemia. [provided by RefSeq, Oct 2008] |
LOC101929185 Geneputative glycine-rich cell wall structural protein 1 |
MEMO1P4 Genemediator of cell motility 1 pseudogene 4 |
MEMO1P2 Genemediator of cell motility 1 pseudogene 2 |
MEMO1P3 Genemediator of cell motility 1 pseudogene 3 |
LOC728613 Geneprogrammed cell death 6 pseudogene |
MCL1 Genemyeloid cell leukemia 1 This gene encodes an anti-apoptotic protein, which is a member of the Bcl-2 family. Alternative splicing results in multiple transcript variants. The longest gene product (isoform 1) enhances cell survival by inhibiting apoptosis while the alternatively spliced shorter gene products (isoform 2 and isoform 3) promote apoptosis and are death-inducing. [provided by RefSeq, Oct 2010] |
CEND1 Genecell cycle exit and neuronal differentiation 1 The protein encoded by this gene is a neuron-specific protein. The similar protein in pig enhances neuroblastoma cell differentiation in vitro and may be involved in neuronal differentiation in vivo. Multiple pseudogenes have been reported for this gene. [provided by RefSeq, Jul 2008] |
PCNA Geneproliferating cell nuclear antigen The protein encoded by this gene is found in the nucleus and is a cofactor of DNA polymerase delta. The encoded protein acts as a homotrimer and helps increase the processivity of leading strand synthesis during DNA replication. In response to DNA damage, this protein is ubiquitinated and is involved in the RAD6-dependent DNA repair pathway. Two transcript variants encoding the same protein 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] |
BOC GeneBOC cell adhesion associated, oncogene regulated The protein encoded by this gene is a member of the immunoglobulin/fibronectin type III repeat family. It is a component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells, and promotes myogenic differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014] |
LOC100130203 Genecell adhesion associated, oncogene regulated pseudogene |
CDC34 Genecell division cycle 34 The protein encoded by this gene is a member of the ubiquitin-conjugating enzyme family. Ubiquitin-conjugating enzyme catalyzes the covalent attachment of ubiquitin to other proteins. This protein is a part of the large multiprotein complex, which is required for ubiquitin-mediated degradation of cell cycle G1 regulators, and for the initiation of DNA replication. [provided by RefSeq, Jul 2008] |
CDC37 Genecell division cycle 37 The protein encoded by this gene is highly similar to Cdc 37, a cell division cycle control protein of Sacchromyces cerevisiae. This protein is a molecular chaperone with specific function in cell signal transduction. It has been shown to form complex with Hsp90 and a variety of protein kinases including CDK4, CDK6, SRC, RAF-1, MOK, as well as eIF2 alpha kinases. It is thought to play a critical role in directing Hsp90 to its target kinases. [provided by RefSeq, Jul 2008] |
BCL9 GeneB-cell CLL/lymphoma 9 BCL9 is associated with B-cell acute lymphoblastic leukemia. It may be a target of translocation in B-cell malignancies with abnormalities of 1q21. Its function is unknown. The overexpression of BCL9 may be of pathogenic significance in B-cell malignancies. [provided by RefSeq, Jul 2008] |
BCL5 GeneB-cell CLL/lymphoma 5 |
BCL6 GeneB-cell CLL/lymphoma 6 The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal POZ domain. This protein 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 protein can interact with a variety of POZ-containing proteins that function as transcription corepressors. This gene is found to be frequently translocated and hypermutated in diffuse large-cell lymphoma (DLCL), and may be involved in the pathogenesis of DLCL. Alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Aug 2015] |
BCL3 GeneB-cell CLL/lymphoma 3 This gene is a proto-oncogene candidate. It is identified by its translocation into the immunoglobulin alpha-locus in some cases of B-cell leukemia. The protein encoded by this gene contains seven ankyrin repeats, which are most closely related to those found in I kappa B proteins. This protein functions as a transcriptional co-activator that activates through its association with NF-kappa B homodimers. The expression of this gene can be induced 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] |
BCL2 GeneB-cell CLL/lymphoma 2 This gene encodes an integral outer mitochondrial membrane protein that blocks the apoptotic death of some cells such as lymphocytes. Constitutive expression of BCL2, such as in the case of translocation of BCL2 to Ig heavy chain locus, is thought to be the cause of follicular lymphoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] |
HIRA Genehistone cell cycle regulator This gene encodes a histone chaperone that preferentially places the variant histone H3.3 in nucleosomes. Orthologs of this gene in yeast, flies, and plants are necessary for the formation of transcriptionally silent heterochomatin. This gene plays an important role in the formation of the senescence-associated heterochromatin foci. These foci likely mediate the irreversible cell cycle changes that occur in senescent cells. It is considered the primary candidate gene in some haploinsufficiency syndromes such as DiGeorge syndrome, and insufficient production of the gene may disrupt normal embryonic development. [provided by RefSeq, Jul 2008] |
INSL3 Geneinsulin-like 3 (Leydig cell) This gene encodes a member of the insulin-like hormone superfamily. The encoded protein is mainly produced in gonadal tissues. Studies of the mouse counterpart suggest that this gene may be involved in the development of urogenital tract and female fertility. This protein may also act as a hormone to regulate growth and differentiation of gubernaculum, and thus mediating intra-abdominal testicular descent. Mutations in this gene may lead to cryptorchidism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012] |
LOC101929818 Genekiller cell immunoglobulin-like receptor 3DL1 |
KIR3DX1 Genekiller cell immunoglobulin-like receptor, three domains, X1 Predicted to be involved in immune response-regulating signaling pathway. Predicted to be located in extracellular region. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
MNDA Genemyeloid cell nuclear differentiation antigen The myeloid cell nuclear differentiation antigen (MNDA) is detected only in nuclei of cells of the granulocyte-monocyte lineage. A 200-amino acid region of human MNDA is strikingly similar to a region in the proteins encoded by a family of interferon-inducible mouse genes, designated Ifi-201, Ifi-202, and Ifi-203, that are not regulated in a cell- or tissue-specific fashion. The 1.8-kb MNDA mRNA, which contains an interferon-stimulated response element in the 5-prime untranslated region, was significantly upregulated in human monocytes exposed to interferon alpha. MNDA is located within 2,200 kb of FCER1A, APCS, CRP, and SPTA1. In its pattern of expression and/or regulation, MNDA resembles IFI16, suggesting that these genes participate in blood cell-specific responses to interferons. [provided by RefSeq, Jul 2008] |
TRGJ2 GeneT cell receptor gamma joining 2 |
TRGJ1 GeneT cell receptor gamma joining 1 Predicted to be involved in adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell receptor complex. [provided by Alliance of Genome Resources, Mar 2025] |
TRGJP GeneT cell receptor gamma joining P |
PCNAP1 Geneproliferating cell nuclear antigen pseudogene 1 |
PCNAP4 Geneproliferating cell nuclear antigen pseudogene 4 |
CDIP1 Genecell death-inducing p53 target 1 Predicted to enable zinc ion binding activity. Acts upstream of or within intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator. Located in cytoplasmic side of late endosome membrane; cytoplasmic side of lysosomal membrane; and nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
LOC100287157 Genecell division cycle associated 8 pseudogene |
SCRIB Genescribbled planar cell polarity protein This gene encodes a protein that was identified as being similar to the Drosophila scribble protein. The mammalian protein is involved in tumor suppression pathways. As a scaffold protein involved in cell polarization processes, this protein binds to many other proteins. The encoded protein binds to papillomavirus E6 protein via its PDZ domain and the C-terminus of E6. Two alternatively spliced transcript variants that encode different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2011] |
TAGAP GeneT-cell activation RhoGTPase activating protein This gene encodes a member of the Rho GTPase-activator protein superfamily. The encoded protein may function as a Rho GTPase-activating protein. Alterations in this gene may be associated with several diseases, including rheumatoid arthritis, celiac disease, and multiple sclerosis. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2013] |
NRCAM Geneneuronal cell adhesion molecule Cell adhesion molecules (CAMs) are members of the immunoglobulin superfamily. This gene encodes a neuronal cell adhesion molecule with multiple immunoglobulin-like C2-type domains and fibronectin type-III domains. This ankyrin-binding protein is involved in neuron-neuron adhesion and promotes directional signaling during axonal cone growth. This gene is also expressed in non-neural tissues and may play a general role in cell-cell communication via signaling from its intracellular domain to the actin cytoskeleton during directional cell migration. Allelic variants of this gene have been associated with autism and addiction vulnerability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] |
MEMO1P1 Genemediator of cell motility 1 pseudogene 1 |
PDCD1LG2 Geneprogrammed cell death 1 ligand 2 Involved in negative regulation of activated T cell proliferation; negative regulation of interleukin-10 production; and negative regulation of type II interferon production. Predicted to be located in plasma membrane. Predicted to be active in external side of plasma membrane. Biomarker of pulmonary tuberculosis. [provided by Alliance of Genome Resources, Mar 2025] |
DRAIC Genedownregulated RNA in cancer, inhibitor of cell invasion and migration |
TCTA GeneT-cell leukemia translocation altered Involved in negative regulation of osteoclast differentiation and osteoclast fusion. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025] |
DELYQ11 GeneSertoli cell-only syndrome, Y-linked |
LOC100422623 Genecarcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) pseudogene |
ZYG11B Genezyg-11 family member B, cell cycle regulator Involved in positive regulation of proteasomal ubiquitin-dependent protein catabolic process and protein quality control for misfolded or incompletely synthesized proteins. Part of Cul2-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Mar 2025] |
ZYG11A Genezyg-11 family member A, cell cycle regulator Predicted to be part of Cul2-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Mar 2025] |
HK3 Genehexokinase 3 (white cell) Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 3. Similar to hexokinases 1 and 2, this allosteric enzyme is inhibited by its product glucose-6-phosphate. [provided by RefSeq, Apr 2009] |
CWH43 Genecell wall biogenesis 43 C-terminal homolog (S. cerevisiae) Predicted to be involved in GPI anchor biosynthetic process. Predicted to act upstream of or within several processes, including cerebrospinal fluid circulation; establishment of protein localization; and protein N-linked glycosylation. Predicted to be located in extracellular region and membrane. Predicted to be active in endoplasmic reticulum. [provided by Alliance of Genome Resources, Mar 2025] |
MTCP1 Genemature T-cell proliferation 1 This gene was identified by involvement in 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 proteins. This gene represents the upstream 13 kDa protein that is a member of the TCL1 family. This protein may be involved in leukemogenesis. [provided by RefSeq, Mar 2009] |
CDCA2 Genecell division cycle associated 2 This gene encodes a targeting subunit of the cell-cycle associated protein, protein phosphatase 1, with a role in targeting this protein to chromatin during anaphase. These two proteins comprise a phosphatase complex that is involved in nuclear envelope reformation and regulation of the DNA damage response. The encoded protein may also play a role in cancer progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] |
CDCA3 Genecell division cycle associated 3 Predicted to be involved in cell division and protein ubiquitination. Located in adherens junction. [provided by Alliance of Genome Resources, Mar 2025] |
CDCA7 Genecell 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, suggesting its involvement in c-Myc-mediated cell transformation. Two alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] |
CDCA4 Genecell division cycle associated 4 This gene encodes a protein that belongs to the E2F family of transcription factors. This protein regulates E2F-dependent transcriptional activation and cell proliferation, mainly through the E2F/retinoblastoma protein pathway. It also functions in the regulation of JUN oncogene expression. This protein shows distinctive nuclear-mitotic apparatus distribution, it is involved in spindle organization from prometaphase, and may also play a role as a midzone factor involved in chromosome segregation or cytokinesis. Two alternatively spliced transcript variants encoding the same protein have been noted for this gene. Two pseudogenes have also been identified on chromosome 1. [provided by RefSeq, May 2014] |
CDCA5 Genecell division cycle associated 5 Predicted to enable chromatin binding activity. Involved in chromosome organization; double-strand break repair; and positive regulation of exit from mitosis. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
CDCA8 Genecell 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 protein is cell-cycle regulated and is required for chromatin-induced microtubule stabilization and spindle formation. Alternate splicing results in multiple transcript variants. Pseudgenes of this gene are found on chromosomes 7, 8 and 16. [provided by RefSeq, Apr 2013] |
MUC4 Genemucin 4, cell surface associated The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein 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 determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] |
NKS1 Genenatural killer cell susceptibility 1 |
CEMIP Genecell migration inducing protein, hyaluronan binding Enables several functions, including clathrin heavy chain binding activity; hyaluronic acid binding activity; and hyalurononglucosaminidase activity. Involved in several processes, including hyaluronan catabolic process; positive regulation of protein phosphorylation; and positive regulation of protein targeting to membrane. Located in several cellular components, including clathrin-coated endocytic vesicle; endoplasmic reticulum; and nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
EPCAM Geneepithelial cell adhesion molecule This gene encodes a carcinoma-associated antigen and is a member of a family that includes at least two type I membrane proteins. This antigen is expressed on most normal epithelial cells and gastrointestinal carcinomas and functions as a homotypic calcium-independent cell adhesion molecule. The antigen is being used as a target for immunotherapy treatment of human carcinomas. Mutations in this gene result in congenital tufting enteropathy. [provided by RefSeq, Dec 2008] |
RGCC Generegulator of cell cycle This gene is thought to regulate cell cycle progression. It is induced by p53 in response to DNA damage, or by sublytic levels of complement system proteins that result in activation of the cell cycle. The encoded protein localizes to the cytoplasm during interphase and to centrosomes during mitosis. The protein forms a complex with polo-like kinase 1. The protein also translocates to the nucleus in response to treatment with complement system proteins, and can associate with and increase the kinase activity of cell division cycle 2 protein. In different assays and cell types, overexpression of this protein has been shown to activate or suppress cell cycle progression. [provided by RefSeq, Jul 2008] |
TCL6 GeneT-cell leukemia/lymphoma 6 (non-protein coding) |
TCL4 GeneT-cell leukemia/lymphoma 4 |
HMCES Gene5-hydroxymethylcytosine (hmC) binding, ES cell-specific Enables DNA-(abasic site) binding activity; protein-DNA covalent cross-linking activity; and single-stranded DNA binding activity. Involved in interstrand cross-link repair; protein-DNA covalent cross-linking repair; and somatic hypermutation of immunoglobulin genes. Is active in replication fork. [provided by Alliance of Genome Resources, Mar 2025] |
HCFC1R1 Genehost cell factor C1 regulator 1 (XPO1 dependent) Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
MUC17 Genemucin 17, cell surface associated The protein encoded by this gene is a membrane-bound mucin that provides protection to gut epithelial cells. The encoded protein contains about 60 tandem repeats, with each repeat being around 60 aa. N-glycosylation enables the encoded protein to localize on the cell surface, while the C-terminus interacts with the scaffold protein PDZ domain containing 1 (PDZK1). Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Nov 2015] |
MUC16 Genemucin 16, cell surface associated This gene encodes a protein that is a member of the mucin family. Mucins are high molecular weight, O-glycosylated proteins that play an important role in forming a protective mucous barrier, and are found on the apical surfaces of the epithelia. The encoded protein is a membrane-tethered mucin that contains an extracellular domain at its amino terminus, a large tandem repeat domain, and a transmembrane domain with a short cytoplasmic domain. The amino terminus is highly glycosylated, while the repeat region contains 156 amino acid repeats unit that are rich in serines, threonines, and prolines. Interspersed within the repeats are Sea urchin sperm protein Enterokinase and Agrin (SEA) modules, leucine-rich repeats and ankyrin (ANK) repeats. These regions together form the ectodomain, and there is a potential cleavage site found near an SEA module close to the transmembrane domain. This protein is thought to play a role in forming a barrier, protecting 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] |
MUC15 Genemucin 15, cell surface associated Predicted to be located in Golgi lumen and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
MUC13 Genemucin 13, cell surface associated Epithelial mucins, such as MUC13, are a family of secreted and cell surface glycoproteins expressed by ductal and glandular epithelial tissues (Williams et al., 2001 [PubMed 11278439]).[supplied by OMIM, Jul 2008] |
MUC12 Genemucin 12, cell surface associated This gene encodes an integral membrane glycoprotein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces and have been implicated in epithelial renewal and differentiation. These glycoproteins also play a role in intracellular signaling. This protein is expressed on the apical membrane surface of epithelial cells that line the mucosal surfaces of many different tissues including the colon, pancreas, prostate, and uterus. The expression of this gene is downregulated in colorectal cancer tissue. [provided by RefSeq, Apr 2017] |
HCC Genethyroid carcinoma, Hurthle cell |
NEDD8 Geneneural precursor cell expressed, developmentally down-regulated 8 Enables ubiquitin protein ligase binding activity. Acts upstream of or within protein neddylation. Located in cytosol and nucleoplasm. Biomarker of Parkinson's disease and malignant astrocytoma. [provided by Alliance of Genome Resources, Mar 2025] |
NEDD9 Geneneural precursor cell expressed, developmentally down-regulated 9 The protein encoded by this gene is a member of the CRK-associated substrates family. Members of this family are adhesion docking molecules that mediate protein-protein interactions for signal transduction pathways. This protein is a focal adhesion protein that acts as a scaffold to regulate signaling complexes important in cell attachment, migration and invasion as well as apoptosis and the cell cycle. This protein has also been reported to have a role in cancer metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] |
NEDD1 Geneneural precursor cell expressed, developmentally down-regulated 1 Predicted to enable gamma-tubulin binding activity. Predicted to be involved in microtubule nucleation and mitotic cell cycle. Located in centrosome; cytosol; and nuclear lumen. [provided by Alliance of Genome Resources, Mar 2025] |
HCLS1 Genehematopoietic cell-specific Lyn substrate 1 Enables RNA polymerase II-specific DNA-binding transcription factor binding activity; protein kinase binding activity; and signaling adaptor activity. Involved in several processes, including granulocyte colony-stimulating factor signaling pathway; positive regulation of macromolecule metabolic process; and positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction. Located in cytosol; nucleus; and plasma membrane. Part of transcription regulator complex. [provided by Alliance of Genome Resources, Mar 2025] |
ERICD GeneE2F1-regulated inhibitor of cell death (non-protein coding) |
TRGV5P GeneT cell receptor gamma variable 5P (pseudogene) |
PARD3 Genepar-3 family cell polarity regulator This gene encodes a member of the PARD protein family. PARD family members interact with other PARD family members and other proteins; 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] |
LOC100132330 Genemal, T-cell differentiation protein-like pseudogene |
CD244 GeneCD244 molecule, natural killer cell receptor 2B4 This gene encodes a cell surface receptor expressed on natural killer (NK) cells (and some T cells) that mediate non-major histocompatibility complex (MHC) restricted killing. The interaction between NK-cell and target cells via this receptor is thought to modulate NK-cell cytolytic activity. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009] |
CPA3 Genecarboxypeptidase A3 (mast cell) This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases. The encoded preproprotein is proteolytically processed to generate a mature protease that is released by mast cells and may be involved in the degradation of endogenous proteins and the inactivation of venom-associated peptides. Expression of this gene may be elevated in human asthma patients. [provided by RefSeq, Nov 2015] |
LIMS3L GeneLIM and senescent cell antigen-like domains 3-like Predicted to enable metal ion binding activity. Predicted to be located in cytoplasm; focal adhesion; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRGV10 GeneT cell receptor gamma variable 10 (non-functional) Predicted to be involved in adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell receptor complex. [provided by Alliance of Genome Resources, Mar 2025] |
TCIRG1 GeneT-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 This gene encodes a subunit of a large protein complex known as a vacuolar H+-ATPase (V-ATPase). The protein complex acts as a pump to move protons across the membrane. This movement of protons helps regulate the pH of cells and their surrounding environment. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised of a cytosolic V1 domain and a transmembrane V0 domain. Alternative splicing results in multiple transcript variants. Mutations in this gene are associated with infantile malignant osteopetrosis. [provided by RefSeq, May 2017] |
FRAT1 Genefrequently rearranged in advanced T-cell lymphomas 1 The protein encoded by this gene belongs to the GSK-3-binding protein family. The protein inhibits GSK-3-mediated phosphorylation of beta-catenin and positively regulates the Wnt signaling pathway. It may function in tumor progression and in lymphomagenesis. [provided by RefSeq, Oct 2008] |
FRAT2 Genefrequently rearranged in advanced T-cell lymphomas 2 The protein encoded by this intronless gene belongs to the GSK-3-binding protein family. Studies show that this protein plays a role as a positive regulator of the WNT signaling pathway. It may be upregulated in tumor progression. [provided by RefSeq, Jul 2008] |
LOC105379645 Genekiller cell immunoglobulin-like receptor 2DL2 |
SDF2L1 Genestromal cell-derived factor 2-like 1 Enables misfolded protein binding activity. Involved in chaperone cofactor-dependent protein refolding. Located in endoplasmic reticulum. Part of protein folding chaperone complex. [provided by Alliance of Genome Resources, Mar 2025] |
LOC101060051 Genevegetative cell wall protein gp1-like |
BCC5 GeneBasal cell carcinoma, susceptibility to, 5 |
LOC105378167 Genevegetative cell wall protein gp1-like |
MCAM Genemelanoma cell adhesion molecule Involved in glomerular filtration and vascular wound healing. Acts upstream of or within angiogenesis. Located in external side of plasma membrane. Biomarker of chronic obstructive pulmonary disease and uveal melanoma. [provided by Alliance of Genome Resources, Mar 2025] |
KLRG1 Genekiller cell lectin-like receptor subfamily G, member 1 Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. The protein encoded by this gene belongs to the killer cell lectin-like receptor (KLR) family, which is a group of transmembrane proteins preferentially expressed in NK cells. Studies in mice suggested that the expression of this gene may be regulated by MHC class I molecules. [provided by RefSeq, Jun 2016] |
MCTS1 Genemalignant T cell amplified sequence 1 Enables RNA cap binding activity; ribosomal small subunit binding activity; and translation factor activity, non-nucleic acid binding. Involved in IRES-dependent viral translational initiation; cytoplasmic translational initiation; and ribosome disassembly. Is active in cytoplasm. Implicated in primary immunodeficiency disease. [provided by Alliance of Genome Resources, Mar 2025] |
CCAR1 Genecell division cycle and apoptosis regulator 1 Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; nuclear receptor coactivator activity; and transcription corepressor activity. Involved in positive regulation of cell migration and positive regulation of cell population proliferation. Acts upstream of or within positive regulation of apoptotic process. Located in nuclear envelope lumen. [provided by Alliance of Genome Resources, Mar 2025] |
CCAR2 Genecell cycle and apoptosis regulator 2 Enables RNA polymerase II complex binding activity and enzyme inhibitor activity. Involved in several processes, including mitochondrial fragmentation involved in apoptotic process; regulation of primary metabolic process; and regulation of signal transduction. Located in several cellular components, including mitochondrial matrix; nucleoplasm; and spindle. Part of DBIRD complex. [provided by Alliance of Genome Resources, Mar 2025] |
LOC100132609 Geneprogrammed cell death 2 pseudogene |
METRN Genemeteorin, glial cell differentiation regulator Meteorin regulates glial cell differentiation and promotes the formation of axonal networks during neurogenesis (Nishino et al., 2004 [PubMed 15085178]).[supplied by OMIM, Mar 2008] |
PCP4 GenePurkinje cell protein 4 Enables calcium ion binding activity and calmodulin binding activity. Involved in positive regulation of CAMKK-AMPK signaling cascade and positive regulation of neuron differentiation. Located in cytosol and nucleus. Part of protein-containing complex. Biomarker of Huntington's disease and leiomyoma. [provided by Alliance of Genome Resources, Mar 2025] |
PCP2 GenePurkinje cell protein 2 Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to act upstream of or within G protein-coupled opsin signaling pathway. Predicted to be located in neuronal cell body. [provided by Alliance of Genome Resources, Mar 2025] |
CTAGE1 Genecutaneous T-cell lymphoma-associated antigen 1 Predicted to be involved in endoplasmic reticulum to Golgi vesicle-mediated transport; protein secretion; and vesicle cargo loading. Predicted to be located in membrane. Predicted to be active in endoplasmic reticulum exit site and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Mar 2025] |
GMCL1P1 Genegerm 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 single-exon nature, this chromosome 5 locus contains an open reading frame that could putatively encode a full-length germ cell-less related protein. [provided by RefSeq, Jul 2008] |
GMCL1P2 Genegerm cell-less, spermatogenesis associated 1 pseudogene 2 |
KLRG2 Genekiller cell lectin-like receptor subfamily G, member 2 Predicted to enable carbohydrate binding activity. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025] |
SCLC1 Genesmall cell cancer of the lung |
KLRB1 Genekiller cell lectin-like receptor subfamily B, member 1 Natural killer (NK) cells are lymphocytes that mediate cytotoxicity and secrete cytokines after immune stimulation. Several genes of the C-type lectin superfamily, including the rodent NKRP1 family of glycoproteins, are expressed by NK cells and may be involved in the regulation of NK cell function. The KLRB1 protein contains an extracellular domain with several motifs characteristic of C-type lectins, a transmembrane domain, and a cytoplasmic domain. The KLRB1 protein is classified as a type II membrane protein because it has an external C terminus. [provided by RefSeq, Jul 2008] |
CLLS2 GeneDisrupted in B-cell neoplasia |
MGCT Genemale germ cell tumor |
LOC105379650 Genekiller cell immunoglobulin-like receptor 2DS1 |
LOC101927245 Genevegetative cell wall protein gp1-like |
CIDECP Genecell death-inducing DFFA-like effector c pseudogene |
CDC20B Genecell division cycle 20B Predicted to enable anaphase-promoting complex binding activity and ubiquitin ligase activator activity. Involved in de novo centriole assembly. Located in deuterosome. [provided by Alliance of Genome Resources, Mar 2025] |
BCC6 GeneBasal cell carcinoma, susceptibility to, 6 |
VANGL1 GeneVANGL planar cell polarity protein 1 This gene encodes a member of the tretraspanin family. The encoded protein may be involved in mediating intestinal trefoil factor induced wound healing in the intestinal mucosa. Mutations in this gene are associated with neural tube defects. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010] |
BCL6B GeneB-cell CLL/lymphoma 6, member B Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II; regulation of cytokine production; and regulation of immune system process. Predicted to be located in nucleus. Predicted to be active in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
SWAP70 GeneSWAP switching B-cell complex 70kDa subunit Enables cadherin binding activity. Predicted to be involved in regulation of small GTPase mediated signal transduction. Predicted to act upstream of or within isotype switching. Located in actin cytoskeleton; cytoplasm; and plasma membrane. Is active in postsynapse. [provided by Alliance of Genome Resources, Mar 2025] |
CDC5L Genecell division cycle 5-like The protein 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 protein 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 contains at least five additional protein factors and is required for the second catalytic step of pre-mRNA splicing. [provided by RefSeq, Jul 2008] |
KIR2DS5 Genekiller cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] |
1060P11.3 Genekiller cell immunoglobulin-like receptor, three domains, pseudogene |
KIR2DS2 Genekiller cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene represents a haplotype-specific family member that encodes a protein with a short cytoplasmic tail. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014] |
LOC105378775 Genecell death regulator Aven-like |
SPDYE10P Genespeedy/RINGO cell cycle regulator family member E10, pseudogene Enables acetylcholine receptor regulator activity. [provided by Alliance of Genome Resources, Mar 2025] |
FDCSP Genefollicular dendritic cell secreted protein This gene encodes a small secreted protein that is expressed in follicular dendritic cells. This protein specifically binds to activated B cells, and functions as a regulator of antibody responses. It is also thought to contribute to tumor metastases by promoting cancer cell migration and invasion. [provided by RefSeq, Dec 2011] |
EBF4 Geneearly B-cell factor 4 EBF4 belongs to the conserved Olf/EBF family of helix-loop-helix transcription factors, members of which play important roles in neural development and B-cell maturation (Wang et al., 2002 [PubMed 12139918]).[supplied by OMIM, Mar 2008] |
EBF3 Geneearly B-cell factor 3 This gene encodes a member of the early B-cell factor (EBF) family of DNA binding transcription factors. EBF proteins are involved in B-cell differentiation, bone development and neurogenesis, and may also function as tumor suppressors. The encoded protein inhibits cell survival through the regulation of genes involved in cell cycle arrest and apoptosis, and aberrant methylation or deletion of this gene may play a role in multiple malignancies including glioblastoma multiforme and gastric carcinoma. [provided by RefSeq, Sep 2011] |
EBF2 Geneearly B-cell factor 2 The protein 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 binding domain. The COE family proteins play an important role in variety of developmental processes. Studies in mouse suggest that this gene may be involved in the differentiation of osteoblasts. [provided by RefSeq, Oct 2011] |
EBF1 Geneearly B-cell factor 1 Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within positive regulation of DNA-templated transcription. Predicted to be located in chromatin. [provided by Alliance of Genome Resources, Mar 2025] |
CGRRF1 Genecell growth regulator with ring finger domain 1 Predicted to enable metal ion binding activity. Predicted to be involved in negative regulation of cell growth. Located in endoplasmic reticulum and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
GLYCAM1 Geneglycosylation dependent cell adhesion molecule 1 (pseudogene) Predicted to enable cell adhesion molecule binding activity and sulfate binding activity. Predicted to act upstream of or within response to bacterium. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025] |
PP13 Genevegetative cell wall protein gp1 |
CDCA7L Genecell division cycle associated 7-like Acts upstream of or within positive regulation of cell population proliferation. Located in cytosol; fibrillar center; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
TIGIT GeneT cell immunoreceptor with Ig and ITIM domains This gene encodes a member of the PVR (poliovirus receptor) family of immunoglobin proteins. The product of this gene is expressed on several classes of T cells including follicular B helper T cells (TFH). The protein has been shown to bind PVR with high affinity; this binding is thought to assist interactions between TFH and dendritic cells to regulate T cell dependent B cell responses.[provided by RefSeq, Sep 2009] |
MCIDAS Genemulticiliate differentiation and DNA synthesis associated cell cycle protein This gene encodes a member of the geminin family of proteins. The encoded nuclear protein is required for the generation of multiciliated cells in respiratory epithelium. Mutations in this gene cause a rare mucociliary clearance disorder associated with recurring respiratory infections in human patients, known as reduced generation of multiple motile cilia (RGMC). [provided by RefSeq, Sep 2016] |
NCR3LG1 Genenatural killer cell cytotoxicity receptor 3 ligand 1 B7H6 belongs to the B7 family (see MIM 605402) and is selectively expressed on tumor cells. Interaction of B7H6 with NKp30 (NCR3; MIM 611550) results in natural killer (NK) cell activation and cytotoxicity (Brandt et al., 2009 [PubMed 19528259]).[supplied by OMIM, Jan 2011] |
KIR3DL1 Genekiller cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] |
KIR3DL2 Genekiller cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the `framework` loci that is present on all haplotypes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2011] |
KIR3DL3 Genekiller cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the `framework` loci that is present on all haplotypes. [provided by RefSeq, Jul 2008] |
MEMO1 Genemediator of cell motility 1 Involved in regulation of microtubule-based process. Located in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
BLID GeneBH3-like motif containing, cell death inducer This gene encodes a BH3-like motif containing protein involved in cell death. The encoded protein may induce apoptosis in a caspase-dependent manner. The protein is localized in both the cytoplasm and the mitochondrion. [provided by RefSeq, Aug 2011] |
ESAM Geneendothelial cell adhesion molecule Enables cell-cell adhesion mediator activity. Involved in several processes, including bicellular tight junction assembly; cell-cell adhesion; and regulation of actin filament polymerization. Located in cell-cell junction and plasma membrane. Part of protein-containing complex. [provided by Alliance of Genome Resources, Mar 2025] |
BANK1 GeneB-cell scaffold protein with ankyrin repeats 1 The protein encoded by this gene is a B-cell-specific scaffold protein that functions in B-cell receptor-induced calcium mobilization from intracellular stores. This protein can also promote Lyn-mediated tyrosine phosphorylation of inositol 1,4,5-trisphosphate receptors. Polymorphisms in this gene are associated with susceptibility to systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] |
FUZ Genefuzzy planar cell polarity protein This gene encodes a planar cell polarity protein that is involved in ciliogenesis and directional cell movement. Knockout studies in mice exhibit neural tube defects and defective cilia, and mutations in this gene are associated with neural tube defects in humans. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2012] |
CEACAM19 Genecarcinoembryonic antigen-related cell adhesion molecule 19 Predicted to be involved in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules. Predicted to be located in membrane. Predicted to be active in cell surface. [provided by Alliance of Genome Resources, Mar 2025] |
CEACAM18 Genecarcinoembryonic antigen-related cell adhesion molecule 18 |
CEACAM16 Genecarcinoembryonic antigen-related cell adhesion molecule 16 The protein encoded by this gene is a secreted glycoprotein that in mouse interacts with tectorial membrane proteins in the inner ear. The encoded adhesion protein is found in cochlear outer hair cells and appears to be important for proper hearing over an extended frequency range. Defects in this gene likely are a cause of non-syndromic autosomal dominant hearing loss. [provided by RefSeq, May 2012] |
CIDEC Genecell death-inducing DFFA-like effector c This gene encodes a member of the cell death-inducing DNA fragmentation factor-like effector family. Members of this family play important roles in apoptosis. The encoded protein promotes lipid droplet formation in adipocytes and may mediate adipocyte apoptosis. This gene is regulated by insulin and its expression is positively correlated with insulin sensitivity. Mutations in this gene may contribute to insulin 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] |
CIDEA Genecell death-inducing DFFA-like effector a This gene encodes the homolog of the mouse protein Cidea that has been shown to activate apoptosis. This activation of apoptosis is inhibited by the DNA fragmentation factor DFF45 but not by caspase inhibitors. Mice that lack functional Cidea have higher metabolic rates, higher lipolysis in brown adipose tissue and higher core body temperatures when subjected to cold. These mice are also resistant to diet-induced obesity and diabetes. This suggests that in mice this gene product plays a role in thermogenesis and lipolysis. Alternatively spliced transcripts have been identified. [provided by RefSeq, Aug 2010] |
CDC42P5 Genecell division cycle 42 pseudogene 5 |
LOC105372844 Genevegetative cell wall protein gp1-like |
PBXIP1 Genepre-B-cell leukemia homeobox interacting protein 1 The protein encoded by this gene interacts with the PBX1 homeodomain protein, inhibiting its transcriptional activation potential by preventing its binding to DNA. The encoded protein, which is primarily cytosolic but can shuttle to the nucleus, also can interact with estrogen receptors alpha and beta and promote the proliferation of breast cancer, brain tumors, and lung cancer. Several transcript variants encoding different isoforms have been found for this gene. More variants exist, but their full-length natures have yet to be determined. [provided by RefSeq, Dec 2015] |
PDCD6 Geneprogrammed cell death 6 This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. Calcium binding is important for homodimerization and for conformational changes required for binding to other protein partners. This gene product participates in T cell receptor-, Fas-, and glucocorticoid-induced programmed cell death. In mice deficient for this gene product, however, apoptosis was not blocked suggesting this gene product is functionally redundant. Alternatively spliced transcript variants encoding 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] |
PDCD7 Geneprogrammed cell death 7 This gene encodes a 59 kDa protein that is associated with the U11 small nuclear ribonucleoprotein (snRNP), which is a component of the minor U12-type spliceosome responsible for catalyzing pre-mRNA splicing of U12-type introns. [provided by RefSeq, Dec 2010] |
PDCD4 Geneprogrammed cell death 4 (neoplastic transformation inhibitor) This gene is a tumor suppressor and encodes a protein that binds to the eukaryotic translation initiation factor 4A1 and inhibits its function by preventing RNA binding. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010] |
PDCD5 Geneprogrammed cell death 5 This gene encodes a protein that is upregulated during apoptosis where it translocates rapidly from the cytoplasm to the nucleus. The encoded protein may be an important regulator of K(lysine) acetyltransferase 5 (a protein involved in transcription, DNA damage response and cell cycle control) by inhibiting its proteasome-dependent degradation. Pseudogenes have been identified on chromosomes 5 and 12 [provided by RefSeq, Dec 2010] |
PDCD2 Geneprogrammed cell death 2 This gene encodes a nuclear protein expressed in 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 germinal center development, suggesting that BCL6 regulates apoptosis by its effects on this protein. Alternative splicing results in multiple transcript variants and pseudogenes have been identified on chromosomes 9 and 12. [provided by RefSeq, Dec 2010] |
PDCD1 Geneprogrammed cell death 1 Programmed cell death protein 1 (PDCD1) is an immune-inhibitory receptor expressed in activated T cells; it is involved in the regulation of T-cell functions, including those of effector CD8+ T cells. In addition, this protein can also promote the differentiation of CD4+ T cells into T regulatory cells. PDCD1 is expressed in many types of tumors including melanomas, and has demonstrated to play a role in anti-tumor immunity. Moreover, this protein has been shown to be involved in safeguarding against autoimmunity, however, it can also contribute to the inhibition of effective anti-tumor and anti-microbial immunity. [provided by RefSeq, Aug 2020] |
PDCD10 Geneprogrammed cell death 10 This gene encodes an evolutionarily conserved protein associated with cell apoptosis. The protein interacts with the serine/threonine protein kinase MST4 to modulate the extracellular signal-regulated kinase (ERK) pathway. It also interacts with and is phosphoryated by serine/threonine kinase 25, and is thought to function in a signaling pathway essential for vascular developent. Mutations in this gene are one cause of cerebral cavernous malformations, which are vascular malformations that cause seizures and cerebral hemorrhages. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] |
PDCD11 Geneprogrammed cell death 11 PDCD11 is a NF-kappa-B (NFKB1; 164011)-binding protein that colocalizes with U3 RNA (MIM 180710) in 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] |
LOC345471 Genecell division cycle 37 homolog (S. cerevisiae) pseudogene |
MCF2 GeneMCF.2 cell line derived transforming sequence The oncogenic protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that exerts control over some members of the Rho family of small GTPases. Several transcript variants encoding different isoforms have been found for this gene. These isoforms exhibit different expression patterns and varying levels of GEF activity.[provided by RefSeq, Jan 2010] |
CDON Genecell adhesion associated, oncogene regulated This gene encodes a cell surface receptor that is a member of the immunoglobulin superfamily. The encoded protein contains three fibronectin type III domains and five immunoglobulin-like C2-type domains. This protein is a member of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells and positively regulates myogenesis. [provided by RefSeq, Aug 2011] |
PPDPF Genepancreatic progenitor cell differentiation and proliferation factor Predicted to be involved in cell differentiation. Predicted to act upstream of or within TORC1 signaling and liver development. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025] |
LOC102725023 Genekiller cell immunoglobulin-like receptor 2DS3 allele 0020101 |
CDC20P1 Genecell division cycle 20 pseudogene 1 |
PDCD5P1 Geneprogrammed cell death 5 pseudogene 1 |
PDCD5P2 Geneprogrammed cell death 5 pseudogene 2 |
LIMS2 GeneLIM and senescent cell antigen-like domains 2 This gene encodes a member of a small family of focal adhesion proteins which interacts with ILK (integrin-linked kinase), a protein which effects protein-protein interactions with the extraceullar matrix. The encoded protein has five LIM domains, each domain forming two zinc fingers, which permit interactions which regulate cell shape and migration. A pseudogene of this gene is located on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] |
LIMS3 GeneLIM and senescent cell antigen-like domains 3 Predicted to enable metal ion binding activity. Predicted to be located in cytoplasm; focal adhesion; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
LIMS1 GeneLIM and senescent cell antigen-like domains 1 The protein encoded by this gene is an adaptor protein which contains five LIM domains, or double zinc fingers. The protein is likely involved in integrin signaling through its LIM domain-mediated interaction with integrin-linked kinase, found in focal adhesion plaques. It is also thought to act as a bridge linking integrin-linked kinase to NCK adaptor protein 2, which is involved in growth factor receptor kinase signaling pathways. Its localization to the periphery of spreading cells also suggests that this protein may play a role in integrin-mediated cell adhesion or spreading. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] |
TRGJP2 GeneT cell receptor gamma joining P2 |
TRGJP1 GeneT cell receptor gamma joining P1 |
LOC102725210 Genevegetative cell wall protein gp1-like |
BOD1 Genebiorientation of chromosomes in cell division 1 Enables protein phosphatase 2A binding activity and protein phosphatase inhibitor activity. Involved in mitotic sister chromatid biorientation; mitotic sister chromatid cohesion, centromeric; and protein localization to chromosome, centromeric region. Located in centrosome; spindle microtubule; and spindle pole. Part of Set1C/COMPASS complex and outer kinetochore. [provided by Alliance of Genome Resources, Mar 2025] |
VTCN1 GeneV-set domain containing T cell activation inhibitor 1 This gene encodes a protein belonging to the B7 costimulatory protein family. Proteins in this family are present on the surface of antigen-presenting cells and interact with ligand bound to receptors on the surface of T cells. Studies have shown that high levels of the encoded protein has been correlated with tumor progression. A pseudogene of this gene is located on chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] |
CERCAM Genecerebral endothelial cell adhesion molecule Enables identical protein binding activity. Acts upstream of or within cell adhesion. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
VCAM1 Genevascular cell adhesion molecule 1 This gene is a member of the Ig superfamily and encodes a cell surface sialoglycoprotein expressed by cytokine-activated endothelium. This type I membrane protein mediates leukocyte-endothelial cell adhesion and signal transduction, and may play a role in the development of artherosclerosis and rheumatoid arthritis. Three alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq, Dec 2010] |
LAKLG Genelymphokine-activated killer cell ligand |
NOS3 Genenitric oxide synthase 3 (endothelial cell) Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. Nitric oxide is synthesized from L-arginine by nitric oxide synthases. Variations in this gene are associated with susceptibility to coronary spasm. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016] |
TRDV1 GeneT cell receptor delta variable 1 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRDV3 GeneT cell receptor delta variable 3 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRDV2 GeneT cell receptor delta variable 2 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
URGCP Geneupregulator of cell proliferation URG4 is upregulated in the presence of hepatitis B virus (HBV)-encoded X antigen (HBxAg) and may contribute to the development of hepatocellular carcinoma by promoting hepatocellular growth and survival (Tufan et al., 2002 [PubMed 12082552]).[supplied by OMIM, Mar 2008] |
SMAGP Genesmall cell adhesion glycoprotein Located in cell junction; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
SPDYE15P Genespeedy/RINGO cell cycle regulator family member E15, pseudogene Predicted to enable protein kinase binding activity. [provided by Alliance of Genome Resources, Mar 2025] |
NCAM1 Geneneural cell adhesion molecule 1 This gene encodes a cell adhesion protein which is a member of the immunoglobulin superfamily. The encoded protein is involved in cell-to-cell interactions as well as cell-matrix interactions during development and differentiation. The encoded protein plays a role in the development of the nervous system by regulating neurogenesis, neurite outgrowth, and cell migration. This protein is also involved in the expansion of T lymphocytes, B lymphocytes and natural killer (NK) cells which play an important role in immune surveillance. This protein plays a role in signal transduction by interacting with fibroblast growth factor receptors, N-cadherin and other components of the extracellular matrix and by triggering signalling cascades involving FYN-focal adhesion kinase (FAK), mitogen-activated protein kinase (MAPK), and phosphatidylinositol 3-kinase (PI3K). One prominent isoform of this gene, cell surface molecule CD56, plays a role in several myeloproliferative disorders such as acute myeloid leukemia and differential expression of this gene is associated with differential disease progression. For example, increased expression of CD56 is correlated with lower survival in acute myeloid leukemia patients whereas increased severity of COVID-19 is correlated with decreased abundance of CD56-expressing NK cells in peripheral blood. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Aug 2020] |
NCAM2 Geneneural cell adhesion molecule 2 The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein and may function in selective fasciculation and zone-to-zone projection of the primary olfactory axons. [provided by RefSeq, Jul 2008] |
KIR2DS4 Genekiller cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] |
KIR2DS3 Genekiller cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] |
KIR2DS1 Genekiller cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] |
CDC27P7 Genecell division cycle 27 pseudogene 7 |
LOC101930589 Genecell division cycle protein 27 homolog pseudogene |
CDC25C Genecell division cycle 25C This gene encodes a conserved protein that plays a key role in the regulation of cell division. The encoded protein directs dephosphorylation of cyclin B-bound CDC2 and triggers entry into mitosis. It also suppresses p53-induced growth arrest. Multiple alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Dec 2015] |
CDC25B Genecell division cycle 25B CDC25B is a member of the CDC25 family of phosphatases. CDC25B activates the cyclin dependent kinase CDC2 by removing two phosphate groups and it is required for entry into mitosis. CDC25B shuttles between the nucleus and the cytoplasm due to nuclear localization and nuclear export signals. The protein is nuclear in the M and G1 phases of the cell cycle and moves to the cytoplasm during S and G2. CDC25B has oncogenic properties, although its role in tumor formation has not been determined. Multiple transcript variants for this gene exist. [provided by RefSeq, Jul 2008] |
CDC25A Genecell 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 cyclin-dependent kinase CDC2 by removing two phosphate groups. CDC25A is specifically degraded in response to DNA damage, which prevents cells with chromosomal abnormalities from progressing through cell division. CDC25A is an oncogene, although its exact role in oncogenesis has not been demonstrated. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
CDC27P2 Genecell division cycle 27 pseudogene 2 |
CDC27P3 Genecell division cycle 27 pseudogene 3 |
CDC27P1 Genecell division cycle 27 pseudogene 1 |
CDC27P6 Genecell division cycle 27 pseudogene 6 |
CDC27P4 Genecell division cycle 27 pseudogene 4 |
CDC27P5 Genecell division cycle 27 pseudogene 5 |
CDC27P8 Genecell division cycle 27 pseudogene 8 |
CDC27P9 Genecell division cycle 27 pseudogene 9 |
SPDYE2B Genespeedy/RINGO cell cycle regulator family member E2B Predicted to enable protein kinase binding activity. [provided by Alliance of Genome Resources, Mar 2025] |
HEPACAM Genehepatic and glial cell adhesion molecule The protein encoded by this gene is a single-pass type I membrane protein that localizes to the cytoplasmic side of the cell membrane. The encoded protein acts as a homodimer and is involved in cell motility and cell-matrix interactions. The expression of this gene is downregulated or undetectable in many cancer cell lines, so this may be a tumor suppressor gene. [provided by RefSeq, Jul 2011] |
TRGC1 GeneT cell receptor gamma constant 1 Enables small molecule binding activity. Predicted to be involved in T cell receptor signaling pathway; adaptive immune response; and gamma-delta T cell activation. Predicted to act upstream of or within homeostasis of number of cells within a tissue. Predicted to be located in membrane. Predicted to be part of gamma-delta T cell receptor complex. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRGC2 GeneT cell receptor gamma constant 2 Predicted to enable transmembrane signaling receptor activity. Predicted to be involved in T cell receptor signaling pathway and adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part of gamma-delta T cell receptor complex. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
CDC27 Genecell division cycle 27 The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae protein Cdc27, and the gene product of Schizosaccharomyces pombe nuc 2. This protein is a component of the anaphase-promoting complex (APC), which is composed of eight protein subunits and is highly conserved in eukaryotic cells. This complex catalyzes the formation of cyclin B-ubiquitin conjugate, which is responsible for the ubiquitin-mediated proteolysis of B-type cyclins. The protein encoded by this gene and three other members of the APC complex contain tetratricopeptide (TPR) repeats, which are important for protein-protein interactions. This protein was shown to interact with mitotic checkpoint proteins including Mad2, p55CDC and BUBR1, and it may thus be involved in controlling the timing of mitosis. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2, 22 and Y. [provided by RefSeq, May 2014] |
CDC26 Genecell division cycle 26 The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc26, a component of cell cycle anaphase-promoting complex (APC). APC is composed of a group of highly conserved proteins and functions as a cell cycle-regulated ubiquitin-protein ligase. APC thus is responsible for the cell cycle regulated proteolysis of various proteins. [provided by RefSeq, Jul 2008] |
CDC20 Genecell division cycle 20 CDC20 appears to act as a regulatory protein interacting with several other proteins at multiple points in the cell cycle. It is required for two microtubule-dependent processes, nuclear movement prior to anaphase and chromosome separation. [provided by RefSeq, Jul 2008] |
SPDYE8P Genespeedy/RINGO cell cycle regulator family member E8, pseudogene Enables acetylcholine receptor regulator activity. [provided by Alliance of Genome Resources, Mar 2025] |
BCAP31 GeneB-cell receptor-associated protein 31 This gene encodes a member of the B-cell receptor associated protein 31 superfamily. The encoded protein is a multi-pass transmembrane protein of the endoplasmic reticulum that is involved in the anterograde transport of membrane proteins from the endoplasmic reticulum to the Golgi and in caspase 8-mediated apoptosis. Microdeletions in this gene are associated with contiguous ABCD1/DXS1375E deletion syndrome (CADDS), a neonatal disorder. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 16. [provided by RefSeq, Jan 2012] |
NEDD4L Geneneural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein mediates the ubiquitination of multiple target substrates and plays a critical role in epithelial sodium transport by regulating the cell surface expression of the epithelial sodium channel, ENaC. Single nucleotide polymorphisms in this gene may be associated with essential hypertension. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012] |
THY1 GeneThy-1 cell surface antigen This gene encodes a cell surface glycoprotein and member of the immunoglobulin superfamily of proteins. The encoded protein is involved in cell adhesion and cell communication in numerous cell types, but particularly in cells of the immune and nervous systems. The encoded protein is widely used as a marker for hematopoietic stem cells. This gene may function as a tumor suppressor in nasopharyngeal carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015] |
DAD1P1 Genedefender against cell death 1 pseudogene 1 |
PSHK2 GenePseudohyperkalemia, familial, 2, due to red cell leak |
CLNK Genecytokine-dependent hematopoietic cell linker MIST is a member of the SLP76 family of adaptors (see LCP2, MIM 601603; BLNK, MIM 604515). MIST plays a role in the regulation of immunoreceptor signaling, including PLC-gamma (PLCG1; MIM 172420)-mediated B cell antigen receptor (BCR) signaling 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] |
TCO GeneThyroid carcinoma, nonmedullary, with cell oxyphilia |
CDC14C Genecell division cycle 14C This gene represents a retrogene of cell division cycle 14B (CDC14B), which is located on chromosome 9. The introns in the coding sequence have been processed out relative to the CDC14B locus, but there is an intact open reading frame that is missing only some sequence at the N-terminus, including the nuclear localiztion signal, relative to proteins encoded by the CDC14B gene. There is a difference in the subcellular localization of the protein encoded by this gene, relative to its parental gene product. While the parental gene product displays microtubular localization, GFP chimeras of the protein encoded by this gene localize to the endoplasmic reticulum, indicating a possible new functional role for this gene. [provided by RefSeq, Nov 2017] |
CDC14B Genecell division cycle 14B The protein encoded by this gene is a member of the dual specificity protein tyrosine phosphatase family. This protein is highly similar to Saccharomyces cerevisiae Cdc14, a protein tyrosine phosphatase involved in the exit of cell mitosis and initiation of DNA replication, which suggests the role in cell cycle control. This protein has been shown to interact with and dephosphorylates tumor suppressor protein p53, and is thought to regulate the function of p53. Alternative splice of this gene results in 3 transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] |
CDC14A Genecell division cycle 14A The protein encoded by this gene is a member of the dual specificity protein tyrosine phosphatase family. It is highly similar to Saccharomyces cerevisiae Cdc14, a protein tyrosine phosphatase involved in the exit of cell mitosis and initiation of DNA replication, suggesting a role in cell cycle control. This protein has been shown to interact with, and dephosphorylate tumor suppressor protein p53, and is thought to regulate the function of p53. Alternative splicing of this gene results in several transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] |
CEACAM20 Genecarcinoembryonic antigen-related cell adhesion molecule 20 Predicted to enable protein tyrosine kinase binding activity. Predicted to be involved in regulation of immune system process and signal transduction. Predicted to be located in apical plasma membrane and microvillus membrane. Predicted to be active in cell surface and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
CEACAM21 Genecarcinoembryonic antigen-related cell adhesion molecule 21 Predicted to be involved in T cell activation and immune response. Predicted to be located in membrane. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
LOC100420530 Genemucin 4, cell surface associated pseudogene |
LOC100420536 Geneislet cell autoantigen 1, 69kDa pseudogene |
LOC266683 Genedendritic cell protein pseudogene |
ICA1L Geneislet cell autoantigen 1,69kDa-like Predicted to enable protein domain specific binding activity. Predicted to be involved in regulation of transport. Predicted to act upstream of or within spermatid development. Predicted to be located in acrosomal vesicle. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Mar 2025] |
LOC101928242 Genecell cycle control protein 50B-like |
SPDYE7P Genespeedy/RINGO cell cycle regulator family member E7, pseudogene Predicted to enable protein kinase binding activity. [provided by Alliance of Genome Resources, Mar 2025] |
CDC23 Genecell division cycle 23 The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae Cdc23, a protein essential for cell cycle progression through the G2/M transition. This protein is a component of anaphase-promoting complex (APC), which is composed of eight protein subunits and highly conserved in eukaryotic cells. APC catalyzes the formation of cyclin B-ubiquitin conjugate that is responsible for the ubiquitin-mediated proteolysis of B-type cyclins. This protein and 3 other members of the APC complex contain the TPR (tetratricopeptide repeat), a protein domain important for protein-protein interaction. [provided by RefSeq, Jul 2008] |
PRCC Genepapillary renal cell carcinoma (translocation-associated) This gene encodes a protein that may play a role in pre-mRNA splicing. Chromosomal translocations (X;1)(p11;q21) that result in fusion of this gene to TFE3 (GeneID 7030) have been associated with papillary renal cell carcinoma. A PRCC-TFE3 fusion protein is expressed in affected carcinomas and is likely associated with altered gene transactivation. This fusion protein has also been associated with disruption of the cell cycle.[provided by RefSeq, Aug 2010] |
LOC391239 GeneV-set domain containing T cell activation inhibitor 1 pseudogene |
RQCD1 GeneRCD1 required for cell differentiation1 homolog (S. pombe) This gene encodes a member of the highly conserved RCD1 protein family. The encoded protein is a transcriptional cofactor and a core protein of the CCR4-NOT complex. It may be involved in signal transduction as well as retinoic acid-regulated cell differentiation and development. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2012] |
LOC100128775 Geneneural precursor cell expressed, developmentally down-regulated 8 pseudogene |
BOD1L2 Genebiorientation of chromosomes in cell division 1-like 2 Predicted to be involved in cell division. Predicted to be located in centrosome; cytoplasm; and kinetochore. [provided by Alliance of Genome Resources, Mar 2025] |
BOD1L1 Genebiorientation of chromosomes in cell division 1-like 1 Involved in DNA damage response and replication fork processing. Located in nucleoplasm. Part of Set1C/COMPASS complex. [provided by Alliance of Genome Resources, Mar 2025] |
KLRAP1 Genekiller cell lectin-like receptor subfamily A pseudogene 1 |
PCNAP2 Geneproliferating cell nuclear antigen pseudogene 2 |
TCF7 Genetranscription factor 7 (T-cell specific, HMG-box) This gene encodes a member of the T-cell factor/lymphoid enhancer-binding factor family of high mobility group (HMG) box transcriptional activators. This gene is expressed predominantly in T-cells and plays a critical role in natural killer cell and innate lymphoid cell development. The encoded protein forms a complex with beta-catenin and activates transcription through a Wnt/beta-catenin signaling pathway. Mice with a knockout of this gene are viable and fertile, but display a block in T-lymphocyte differentiation. Alternative splicing results in multiple transcript variants. Naturally-occurring isoforms lacking the N-terminal beta-catenin interaction domain may act as dominant negative regulators of Wnt signaling. [provided by RefSeq, Oct 2016] |
LOC101409255 Genecell division cycle 42 pseudogene |
LOC101409256 Genecell division cycle 42 pseudogene |
PRG2 Geneproteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) The protein encoded by this gene is the predominant constituent of the crystalline core of the eosinophil granule. High levels of the proform of this protein are also present in placenta and pregnancy serum, where it exists as a complex with several other proteins including pregnancy-associated plasma protein A (PAPPA), angiotensinogen (AGT), and C3dg. This protein may be involved in antiparasitic defense mechanisms as a cytotoxin and helminthotoxin, and in immune hypersensitivity reactions. The encoded protein contains a peptide that displays potent antimicrobial activity against Gram-positive bacteria, Gram-negative bacteria, and fungi. It is directly implicated in epithelial cell damage, exfoliation, and bronchospasm in allergic diseases. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014] |
MADCAM1 Genemucosal vascular addressin cell adhesion molecule 1 The protein encoded by this gene is an endothelial cell adhesion molecule that interacts preferentially with the leukocyte beta7 integrin LPAM-1 (alpha4beta7), L-selectin, and VLA-4 (alpha4beta1) on myeloid cells to direct leukocytes into mucosal and inflamed tissues. It is a member of the immunoglobulin family and is similar to ICAM1 and VCAM1. At least seven alternatively spliced transcripts encoding different protein isoforms have been found for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008] |
LOC100128686 Geneprogrammed cell death 10 pseudogene |
ICK Geneintestinal cell (MAK-like) kinase Eukaryotic protein kinases are enzymes that belong to a very extensive family of proteins which share a conserved catalytic core common with both serine/threonine and tyrosine protein kinases. This gene encodes an intestinal serine/threonine kinase harboring a dual phosphorylation site found in mitogen-activating protein (MAP) kinases. The protein localizes to the intestinal crypt region and is thought to be important in intestinal epithelial cell proliferation and differentiation. Alternative splicing has been observed at this locus and two variants, encoding the same isoform, have been identified. [provided by RefSeq, Jul 2008] |
ZYG11AP1 Genezyg-11 family member A, cell cycle regulator pseudogene 1 |
NET1 Geneneuroepithelial cell transforming 1 This gene is part of the family of Rho guanine nucleotide exchange factors. Members of this family activate Rho proteins by catalyzing the exchange of GDP for GTP. The protein encoded by this gene interacts with RhoA within the cell nucleus and may play a role in repairing DNA damage after ionizing radiation. Pseudogenes of this gene are located on the long arms of chromosomes 1, 7 and 18. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] |
MCTS2P Genemalignant T cell amplified sequence 2, pseudogene This locus represents a retrogene copy of MCTS1 (GeneID:28985) and contains an ORF similar to that parent gene. This locus is situated in a differentially methylated region (DMR) and transcripts in this region are imprinted. [provided by RefSeq, Nov 2021] |
DSCAM GeneDown syndrome cell adhesion molecule This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012] |
BCAP31P1 GeneB-cell receptor-associated protein 31 pseudogene 1 |
LOC100418583 Genemucin 4, cell surface associated pseudogene |
LOC100418585 Genemucin 4, cell surface associated pseudogene |
LOC100418584 Genemucin 4, cell surface associated pseudogene |
SCAI Genesuppressor of cancer cell invasion This gene encodes a regulator of cell migration. The encoded protein appears to function in 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] |
SDK1 Genesidekick cell adhesion molecule 1 The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains six immunoglobulin-like domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] |
SDK2 Genesidekick cell adhesion molecule 2 The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains two immunoglobulin domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. This protein, 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 splicing at this gene locus has been observed but the full-length nature of additional variants has not yet been determined. [provided by RefSeq, Jul 2008] |
PBX4 Genepre-B-cell leukemia homeobox 4 This gene encodes a member of the pre-B cell leukemia transcription factor family. These proteins are homeobox proteins that play critical roles in embryonic development and cellular differentiation both as Hox cofactors and through Hox-independent pathways. The encoded protein contains a homeobox DNA-binding domain, but specific functions of the protein have not been determined. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2011] |
PBX2 Genepre-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 involved in t(1;19) translocation in acute pre-B-cell leukemias. This protein is a transcriptional activator which binds to the TLX1 promoter. The gene is located within the major histocompatibility complex (MHC) on chromosome 6. [provided by RefSeq, Jul 2008] |
PBX3 Genepre-B-cell leukemia homeobox 3 Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in several processes, including eye development; nervous system development; and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including adult locomotory behavior; dorsal spinal cord development; and regulation of respiratory gaseous exchange by nervous system process. Predicted to be located in chromatin. Predicted to be part of transcription regulator complex. Predicted to be active in nucleus. Biomarker of esophagus squamous cell carcinoma. [provided by Alliance of Genome Resources, Mar 2025] |
PBX1 Genepre-B-cell leukemia homeobox 1 This gene encodes a nuclear protein that belongs to the PBX homeobox family of transcriptional factors. Studies in mice suggest that this gene may be involved in the regulation of osteogenesis and required for skeletal patterning and programming. A chromosomal translocation, t(1;19) involving this gene and TCF3/E2A gene, is associated with pre-B-cell acute lymphoblastic leukemia. The resulting fusion protein, in which the DNA binding domain of E2A is replaced by the DNA binding domain of this protein, transforms cells by constitutively activating transcription of genes regulated by the PBX protein family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2017] |
KIR3DS1 Genekiller cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013] |
TAX1BP1 GeneTax1 (human T-cell leukemia virus type I) binding protein 1 This gene encodes a HTLV-1 tax1 binding protein. The encoded protein interacts with TNFAIP3, and inhibits TNF-induced apoptosis by mediating the TNFAIP3 anti-apoptotic activity. Degradation of this protein by caspase-3-like family proteins is associated with apoptosis induced by TNF. This protein may also have a role in the inhibition of inflammatory signaling pathways. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011] |
TAX1BP3 GeneTax1 (human T-cell leukemia virus type I) binding protein 3 This gene encodes a small, highly conserved protein with a single PDZ domain. PDZ (PSD-95/Discs large/ZO-1 homologous) domains promote protein-protein interactions that affect cell signaling, adhesion, protein scaffolding, and receptor and ion transporter functions. The encoded protein interacts with a large number of target proteins that play roles in signaling pathways; for example, it interacts with Rho A and glutaminase L and also acts as a negative regulator of the Wnt/beta-catenin signaling pathway. This protein was first identified as binding to the T-cell leukaemia virus (HTLV1) Tax oncoprotein. Overexpression of this gene has been implicated in altered cancer cell adhesion, migration and metastasis. The encoded protein also modulates the localization and density of inwardly rectifying potassium channel 2.3 (Kir2.3). To date, this protein has been shown to play a role in cell proliferation, development, stress response, and polarization. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2017] |
CDC73 Genecell division cycle 73 This gene encodes a tumor suppressor that is involved in transcriptional and post-transcriptional control pathways. The protein is a component of the the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A and with a histone methyltransferase complex. This protein appears to facilitate the association of 3' mRNA processing factors with actively-transcribed chromatin. Mutations in this gene have been linked to hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism, and parathyroid carcinoma. [provided by RefSeq, Jul 2009] |
TCAIM GeneT cell activation inhibitor, mitochondrial Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025] |
AAMP Geneangio-associated, migratory cell protein The gene is a member of the immunoglobulin superfamily. The encoded protein is associated with angiogenesis, with potential roles in endothelial tube formation and the migration of endothelial cells. It may also regulate smooth muscle cell migration via the RhoA pathway. The encoded protein can bind to heparin and may mediate heparin-sensitive cell adhesion. [provided by RefSeq, Oct 2014] |
CDC26P1 Genecell division cycle 26 pseudogene 1 |
PARD6G Genepar-6 family cell polarity regulator gamma Predicted to be involved in centrosome cycle; establishment or maintenance of epithelial cell apical/basal polarity; and regulation of cellular localization. Predicted to be located in cytosol and plasma membrane. Predicted to be part of PAR polarity complex. Predicted to be active in apical plasma membrane; cell cortex; and nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
NCCRP1 Genenon-specific cytotoxic cell receptor protein 1 homolog (zebrafish) Predicted to contribute to ubiquitin protein ligase activity. Involved in positive regulation of cell population proliferation. Located in cytosol. [provided by Alliance of Genome Resources, Mar 2025] |
MUC20 Genemucin 20, cell surface associated This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins secreted by many epithelial tissues to form an insoluble mucous barrier. The C-terminus of this family member associates with the multifunctional docking site of the MET proto-oncogene and suppresses activation of some downstream MET signaling cascades. The protein features a mucin tandem repeat domain that varies between two and six copies in most individuals. Multiple variants encoding 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] |
MUC21 Genemucin 21, cell surface associated This gene encodes a large membrane-bound glycoprotein which is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces. These proteins also play a role in intracellular signaling. The encoded protein contains an N-terminal signal sequence, an extracellular mucin domain, a stem domain, a transmembrane domain, and a C-terminal cytoplasmic tail domain. The mucin domain contains O-glycosylation sites and is polymorphic with isoforms containing a variable number of nonidentical proline-, threonine-, and serine-rich tandem repeats of 15 amino acids each. The aberrent expression of this gene is associated with lung adenocarcinoma. [provided by RefSeq, May 2017] |
LOC644070 Geneputative germ cell-specific gene 1-like protein 2 Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
ICOS Geneinducible T-cell co-stimulator The protein encoded by this gene belongs to the CD28 and CTLA-4 cell-surface receptor family. It forms homodimers and plays an important role in cell-cell signaling, immune responses, and regulation of cell proliferation. [provided by RefSeq, Jul 2008] |
LOC132386 Geneepithelial cell adhesion molecule pseudogene |
LOC100129601 Genecell division cycle associated 7 pseudogene |
SPDYE11 Genespeedy/RINGO cell cycle regulator family member E11 Enables acetylcholine receptor regulator activity. [provided by Alliance of Genome Resources, Mar 2025] |
TTIM1 GeneT-cell tumor invasion and metastasis 1 |
NKTR Genenatural killer cell triggering receptor This gene encodes a membrane-anchored protein with a hydrophobic amino terminal domain and a cyclophilin-like PPIase domain. It is present on the surface of natural killer cells and facilitates their binding to targets. Its expression is regulated by IL2 activation of the cells. [provided by RefSeq, Jul 2008] |
LOC100128721 Genestromal cell-derived factor 2 pseudogene |
CHL1 Genecell adhesion molecule L1-like The protein 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 involved in signal transduction pathways. The deletion of one copy of this gene may be responsible for mental defects in patients with 3p- syndrome. This protein may also play a role in the growth of certain cancers. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Nov 2011] |
BCC4 GeneBasal cell carcinoma, susceptibility to, 4 |
TRDD3 GeneT cell receptor delta diversity 3 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRDD2 GeneT cell receptor delta diversity 2 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRDD1 GeneT cell receptor delta diversity 1 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
LOC102724621 Genecell division cycle protein 27 homolog pseudogene |
TRDC GeneT cell receptor delta constant T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
PSCA Geneprostate stem cell antigen This gene encodes a glycosylphosphatidylinositol-anchored cell membrane glycoprotein. In addition to being highly expressed in the prostate it is also expressed in the bladder, placenta, colon, kidney, and stomach. This gene is up-regulated in a large proportion of prostate cancers and is also detected in cancers of the bladder and pancreas. This gene includes a polymorphism that results in an upstream start codon in some individuals; this polymorphism is thought to be associated with a risk for certain gastric and bladder cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010] |
TRG-AS1 GeneT cell receptor gamma locus antisense RNA 1 |
ALCAM Geneactivated 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 immunoglobulin receptors with five immunoglobulin-like domains (VVC2C2C2) in the extracellular domain. This protein binds to T-cell differentiation antigene CD6, and is implicated in the processes of cell adhesion and migration. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Aug 2011] |
HCST Genehematopoietic cell signal transducer This gene encodes a transmembrane signaling adaptor that contains a YxxM motif in its cytoplasmic domain. The encoded protein may form part of the immune recognition receptor complex with the C-type lectin-like receptor NKG2D. As part of this receptor complex, this protein may activate phosphatidylinositol 3-kinase dependent signaling pathways through its intracytoplasmic YxxM motif. This receptor complex may have a role in cell survival and proliferation by activation of NK and T cell responses. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] |
SDF4 Genestromal cell derived factor 4 This gene encodes a stromal cell derived factor that is a member of the CREC protein family. The encoded protein contains six EF-hand motifs and calcium-binding motifs. This protein localizes to the Golgi lumen and may be involved in regulating calcium dependent cellular activities. [provided by RefSeq, Sep 2011] |
SDF2 Genestromal cell-derived factor 2 The protein encoded by this gene is believed to be a secretory protein. 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 splicing results in both coding and non-coding variants. A pseudogene of this gene is located on chromosome 15. [provided by RefSeq, Dec 2011] |
NKG7 Genenatural killer cell granule protein 7 Involved in defense response to protozoan. Located in cytolytic granule membrane and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
GSG2 Genegerm cell associated 2 (haspin) Enables ATP binding activity and histone H3T3 kinase activity. Involved in several processes, including mitotic sister chromatid cohesion; mitotic spindle assembly checkpoint signaling; and protein localization to chromosome, centromeric region. Located in centrosome; nucleoplasm; and spindle. [provided by Alliance of Genome Resources, Mar 2025] |
GSG1 Genegerm cell associated 1 Predicted to enable RNA polymerase binding activity. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRGV6 GeneT cell receptor gamma variable 6 (pseudogene) |
TRGV7 GeneT cell receptor gamma variable 7 (pseudogene) |
TRGV4 GeneT cell receptor gamma variable 4 Predicted to be involved in adaptive immune response and innate immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell receptor complex. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRGV5 GeneT cell receptor gamma variable 5 Predicted to be involved in adaptive immune response and innate immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell receptor complex. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRGV2 GeneT cell receptor gamma variable 2 Predicted to be involved in adaptive immune response and innate immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell receptor complex. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRGV3 GeneT cell receptor gamma variable 3 Predicted to enable MHC protein binding activity and peptide antigen binding activity. Predicted to be involved in immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell receptor complex. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRGV1 GeneT cell receptor gamma variable 1 (non-functional) Predicted to be involved in adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell receptor complex. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRGV8 GeneT cell receptor gamma variable 8 Predicted to be involved in adaptive immune response and innate immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell receptor complex. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRGV9 GeneT cell receptor gamma variable 9 Predicted to enable MHC protein binding activity and peptide antigen binding activity. Predicted to be involved in adaptive immune response and innate immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell receptor complex. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRGVB GeneT cell receptor gamma variable B (pseudogene) |
TRGVA GeneT cell receptor gamma variable A (pseudogene) |
TRAT1 GeneT cell receptor associated transmembrane adaptor 1 Predicted to enable transmembrane receptor protein tyrosine kinase adaptor activity. Acts upstream of or within negative regulation of receptor recycling; negative regulation of transport; and positive regulation of signal transduction. Located in centriolar satellite; mitotic spindle; and plasma membrane. Part of T cell receptor complex. [provided by Alliance of Genome Resources, Mar 2025] |
KIR2DL5B Genekiller cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] |
KIR2DL5A Genekiller cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5A Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] |
PECAM1 Geneplatelet/endothelial cell adhesion molecule 1 The protein 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 intercellular junctions. The encoded protein is a member of the immunoglobulin superfamily and is likely involved in leukocyte migration, angiogenesis, and integrin activation. [provided by RefSeq, May 2010] |
TAL1 GeneT-cell acute lymphocytic leukemia 1 Enables several functions, including E-box binding activity; RNA polymerase II-specific DNA-binding transcription factor binding activity; and histone deacetylase binding activity. Involved in several processes, including myeloid cell differentiation; positive regulation of cellular component organization; and positive regulation of erythrocyte differentiation. Located in chromatin and nucleoplasm. Part of transcription regulator complex. Implicated in acute lymphoblastic leukemia. [provided by Alliance of Genome Resources, Mar 2025] |
TAL2 GeneT-cell acute lymphocytic leukemia 2 This intronless gene encodes a helix-loop-helix protein. Translocations between this gene on chromosome 9 and the T-cell receptor beta-chain 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] |
CDCA4P2 Genecell division cycle associated 4 pseudogene 2 |
PBX2P1 Genepre-B-cell leukemia homeobox 2 pseudogene 1 |
TLX1 GeneT-cell leukemia homeobox 1 This gene encodes a nuclear transcription factor that belongs to the NK-linked or NK-like (NKL) subfamily of homeobox genes. The encoded protein is required for normal development of the spleen during embryogenesis. This protein is also involved in specification of neuronal cell fates. Ectopic expression of this gene due to chromosomal translocations is associated with certain T-cell acute lymphoblastic leukemias. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010] |
TLX2 GeneT-cell leukemia homeobox 2 This gene is a member of an orphan homeobox-containing transcription factor family. Studies of the mouse ortholog have shown that the encoded protein is crucial for the development of the enteric nervous system; in humans, loss-of-function may play a role in tumorigenesis of gastrointestinal stromal tumors. [provided by RefSeq, May 2010] |
TLX3 GeneT-cell leukemia homeobox 3 The protein encoded by this gene is an orphan homeobox protein that encodes a DNA-binding nuclear transcription factor. A translocation [t(5;14)(q35;q32)] involving this gene is associated with T-cell acute lymphoblastic leukemia (T-ALL) in children and young adults. [provided by RefSeq, Nov 2015] |
CDC37P1 Genecell division cycle 37 pseudogene 1 |
CDC37P2 Genecell division cycle 37 pseudogene 2 |
BCL7C GeneB-cell CLL/lymphoma 7C This gene is identified by the similarity of its product to the N-terminal region of BCL7A protein. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. The function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013] |
BCL7B GeneB-cell CLL/lymphoma 7B This gene encodes a member of the BCL7 family including BCL7A, BCL7B and BCL7C proteins. This member is BCL7B, which contains a region that is highly similar to the N-terminal segment of BCL7A or BCL7C proteins. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. This gene is located at a chromosomal region commonly deleted in 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] |
BCL7A GeneB-cell CLL/lymphoma 7A This gene is directly involved, with Myc and IgH, in a three-way gene translocation in a Burkitt lymphoma cell line. As a result of the gene translocation, the N-terminal 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-Hodgkin lymphoma. The N-terminal segment involved in the translocation includes the region that shares a strong sequence similarity with those of BCL7B and BCL7C. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
BTG1P1 GeneB-cell translocation gene 1 pseudogene 1 |
MSE Genemyelinating Schwann cell element |
GDNF Geneglial cell derived neurotrophic factor This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. The recombinant form of this protein, a highly conserved neurotrophic factor, was shown to promote the survival and differentiation of dopaminergic neurons in culture, and was able to prevent apoptosis of motor neurons induced by axotomy. This protein is a ligand for the product of the RET (rearranged during transfection) protooncogene. Mutations in this gene may be associated with Hirschsprung disease and Tourette syndrome. This gene encodes multiple protein isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016] |
CDC45 Genecell division cycle 45 The protein encoded by this gene was identified by its strong similarity with Saccharomyces cerevisiae Cdc45, an essential protein required to the initiation of DNA replication. Cdc45 is a member of the highly conserved multiprotein complex including Cdc6/Cdc18, the minichromosome maintenance proteins (MCMs) and DNA polymerase, which is important for early steps of DNA replication in eukaryotes. This protein has been shown to interact with MCM7 and DNA polymerase alpha. Studies of the similar gene in Xenopus suggested that this protein play a pivotal role in the loading of DNA polymerase alpha onto chromatin. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] |
CDC40 Genecell division cycle 40 Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp17 protein, which functions in two different cellular processes: pre-mRNA splicing and cell cycle progression. It suggests that this protein may play a role in cell cycle progression. [provided by RefSeq, Jul 2008] |
CDC42 Genecell division cycle 42 The protein encoded by this gene is a small GTPase of the Rho-subfamily, which regulates signaling pathways that control diverse cellular functions including cell morphology, migration, endocytosis and cell cycle progression. This protein 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 protein. This protein could regulate actin polymerization through its direct binding to Neural Wiskott-Aldrich syndrome protein (N-WASP), which subsequently activates Arp2/3 complex. Alternative splicing of this gene results in multiple transcript variants. Pseudogenes of this gene have been identified on chromosomes 3, 4, 5, 7, 8 and 20. [provided by RefSeq, Apr 2013] |
TCL1B GeneT-cell leukemia/lymphoma 1B Enables protein kinase binding activity and protein serine/threonine kinase activator activity. Involved in intracellular signal transduction. [provided by Alliance of Genome Resources, Mar 2025] |
TCL1A GeneT-cell leukemia/lymphoma 1A Overexpression of the TCL1 gene in humans has been implicated in the development of mature T cell leukemia, in which chromosomal rearrangements bring the TCL1 gene in close proximity to the T-cell antigen receptor (TCR)-alpha (MIM 186880) or TCR-beta (MIM 186930) regulatory elements (summarized by Virgilio et al., 1998 [PubMed 9520462]). In normal T cells TCL1 is expressed in CD4-/CD8- cells, but not in cells at later stages of differentiation. TCL1 functions as a coactivator of the cell survival kinase AKT (MIM 164730) (Laine et al., 2000 [PubMed 10983986]).[supplied by OMIM, Jul 2010] |
SPDYE13P Genespeedy/RINGO cell cycle regulator family member E13, pseudogene Enables acetylcholine receptor regulator activity. [provided by Alliance of Genome Resources, Mar 2025] |
LOC105379662 Genekiller cell immunoglobulin-like receptor 2DS1 |
LOC442172 Genecell division cycle associated 7 pseudogene |
SPDYE21P Genespeedy/RINGO cell cycle regulator family member E21, pseudogene Predicted to enable protein kinase binding activity. [provided by Alliance of Genome Resources, Mar 2025] |
ELMO2P1 Geneengulfment and cell motility 2 pseudogene 1 |
LOC100421663 Genecutaneous T-cell lymphoma-associated antigen 1 pseudogene |
LOC651644 GeneLIM and senescent cell antigen-like domains 2 pseudogene |
INTU Geneinturned planar cell polarity protein Predicted to enable phosphatidylinositol binding activity. Involved in embryonic digit morphogenesis; roof of mouth development; and tongue morphogenesis. Located in ciliary basal body and motile cilium. Implicated in asphyxiating thoracic dystrophy and orofaciodigital syndrome XVII. [provided by Alliance of Genome Resources, Mar 2025] |
LOC100129672 Genecell adhesion associated, oncogene regulated pseudogene |
TIAM1 GeneT-cell lymphoma invasion and metastasis 1 This gene encodes a RAC1-specific guanine nucleotide exchange factor (GEF). GEFs mediate the exchange of guanosine diphosphate (GDP) for guanosine triphosphate (GTP). The binding of GTP induces a conformational change in RAC1 that allows downstream effectors to bind and transduce a signal. This gene thus regulates RAC1 signaling pathways that affect cell shape, migration, adhesion, growth, survival, and polarity, as well as influencing actin cytoskeletal formation, endocytosis, and membrane trafficking. This gene thus plays an important role in cell invasion, metastasis, and carcinogenesis. In addition to RAC1, the encoded protein activates additional Rho-like GTPases such as CDC42, RAC2, RAC3 and RHOA. This gene encodes multiple protein isoforms that experience a diverse array of intramolecular, protein-protein, and phosphorylation interactions as well as phosphoinositide binding. Both the longer and shorter isoforms have C-terminal Dbl homology (DH) and pleckstrin homology (PH) domains while only the longer isoforms of this gene have the N-terminal myristoylation site and the downstream N-terminal PH domain, ras-binding domain (RBD), and PSD-95/DlgA/ZO-1 (PDZ) domain. [provided by RefSeq, Jul 2017] |
TIAM2 GeneT-cell lymphoma invasion and metastasis 2 This gene encodes a guanine nucleotide exchange factor. A highly similar mouse protein specifically activates ras-related C3 botulinum substrate 1, converting this Rho-like guanosine triphosphatase (GTPase) from a guanosine diphosphate-bound inactive state to a guanosine triphosphate-bound active state. The encoded protein may play a role in neural cell development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] |
SART1 Genesquamous cell carcinoma antigen recognized by T cells This gene encodes two proteins, the SART1(800) protein expressed in the nucleus of the majority of proliferating cells, and the SART1(259) protein expressed in the cytosol of epithelial cancers. The SART1(259) protein is translated by the mechanism of -1 frameshifting during posttranscriptional regulation; its full-length sequence is not published yet. The two encoded proteins are thought to be involved in the regulation of proliferation. Both proteins have tumor-rejection antigens. The SART1(259) protein possesses tumor epitopes capable of inducing HLA-A2402-restricted cytotoxic T lymphocytes in cancer patients. This SART1(259) antigen may be useful in specific immunotherapy for cancer patients and may serve as a paradigmatic tool for the diagnosis and treatment of patients with atopy. The SART1(259) protein is found to be essential for the recruitment of the tri-snRNP to the pre-spliceosome in the spliceosome assembly pathway. [provided by RefSeq, Jul 2008] |
CDC14BL GeneCDC14 cell division cycle 14 C-like |
SPDYE4 Genespeedy/RINGO cell cycle regulator family member E4 Predicted to enable protein kinase binding activity. [provided by Alliance of Genome Resources, Mar 2025] |
BCL9P1 GeneB-cell CLL/lymphoma 9 pseudogene 1 |
TCF7L1 Genetranscription 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 beta catenin, mediate the Wnt signaling pathway and are antagonized by the transforming growth factor beta signaling pathway. The encoded protein contains a high mobility group-box DNA binding domain and participates in the regulation of cell cycle genes and cellular senescence. [provided by RefSeq, Nov 2010] |
TCF7L2 Genetranscription factor 7-like 2 (T-cell specific, HMG-box) This gene encodes a high mobility group (HMG) box-containing transcription factor that plays a key role in the Wnt signaling pathway. The protein has been implicated in blood glucose homeostasis. Genetic variants of this gene are associated with increased risk of type 2 diabetes. Several transcript variants encoding multiple different isoforms have been found for this gene.[provided by RefSeq, Oct 2010] |
CDC123 Genecell division cycle 123 Enables ATP binding activity and magnesium ion binding activity. Involved in eukaryotic translation initiation factor 2 complex assembly. Located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
KLRD1 Genekiller cell lectin-like receptor subfamily D, member 1 Natural killer (NK) cells are a distinct lineage of lymphocytes that mediate cytotoxic activity and secrete cytokines upon immune stimulation. Several genes of the C-type lectin superfamily, including members of the NKG2 family, are expressed by NK cells and may be involved in the regulation of NK cell function. KLRD1 (CD94) is an antigen preferentially expressed on NK cells and is classified as a type II membrane protein because it has an external C terminus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017] |
ELMO1 Geneengulfment and cell motility 1 This gene encodes a member of the engulfment and cell motility protein family. These proteins interact with dedicator of cytokinesis proteins to promote phagocytosis and cell migration. Increased expression of this gene and dedicator of cytokinesis 1 may promote glioma cell invasion, and single nucleotide polymorphisms in this gene may be associated with diabetic nephropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] |
ELMO2 Geneengulfment and cell motility 2 The protein encoded by this gene interacts with the dedicator of cyto-kinesis 1 protein. Similarity to a C. elegans protein suggests that this protein may function in phagocytosis of apoptotic cells and in cell migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] |
ELMO3 Geneengulfment and cell motility 3 The protein encoded by this gene is similar to a C. elegans protein that functions in phagocytosis of apoptotic cells and in cell migration. Other members of this small family of engulfment and cell motility (ELMO) proteins have been shown to interact with the dedicator of cyto-kinesis 1 protein to promote phagocytosis and effect cell shape changes. [provided by RefSeq, Jul 2008] |
CCPG1 Genecell cycle progression 1 Involved in positive regulation of cell cycle and positive regulation of cell population proliferation. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Mar 2025] |
MILR1 Genemast cell immunoglobulin-like receptor 1 Predicted to enable transmembrane signaling receptor activity. Predicted to be involved in cell surface receptor signaling pathway; mast cell degranulation; and negative regulation of mast cell activation. Predicted to be located in plasma membrane. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
ECSCR Geneendothelial cell surface expressed chemotaxis and apoptosis regulator The protein encoded by this gene is primarily found in endothelial cells and blood vessels, where it is involved in cell shape changes and EGF-induced cell migration. It can enhance the activation of vascular endothelial growth factor receptor-2/kinase insert domain receptor and also promote the proteolysis of internalized kinase insert domain receptor. This gene may play a role in angiogenesis-related diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] |
PDCD2L Geneprogrammed cell death 2-like Predicted to be involved in apoptotic process. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025] |
DCANP1 Genedendritic cell-associated nuclear protein This intronless gene is specifically expressed in dendritic cells (DCs), which are potent antigen-presenting cells involved in activating naive T cells to initiate antigen-specific immune response. The encoded protein is localized mainly in the perinucleus. One of the alleles (A/T) of this gene, that causes premature translation termination at aa 117, has been associated with an increased prevalence of major depression in humans. [provided by RefSeq, Jul 2008] |
MUC1 Genemucin 1, cell surface associated This gene encodes a membrane-bound protein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces. These proteins also play a role in intracellular signaling. This protein is expressed on the apical surface of epithelial cells that line the mucosal surfaces of many different tissues including lung, breast stomach and pancreas. This protein is proteolytically cleaved into alpha and beta subunits that form a heterodimeric complex. The N-terminal alpha subunit functions in cell-adhesion and the C-terminal beta subunit is involved in cell signaling. Overexpression, aberrant intracellular localization, and changes in glycosylation of this protein have been associated with carcinomas. This gene is known to contain a highly polymorphic variable number tandem repeats (VNTR) domain. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011] |
CDCA4P4 Genecell division cycle associated 4 pseudogene 4 |
CDCA4P1 Genecell division cycle associated 4 pseudogene 1 |
CDCA4P3 Genecell division cycle associated 4 pseudogene 3 |
SPDYE22P Genespeedy/RINGO cell cycle regulator family member E22, pseudogene |
LOC100286895 Genecell division cycle 27 homolog pseudogene |
KLRK1 Genekiller cell lectin-like receptor subfamily K, member 1 Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. The NKG2 gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed in NK cells. This gene encodes a member of the NKG2 family. The encoded transmembrane protein is characterized by a type II membrane orientation (has an extracellular C terminus) and the presence of a C-type lectin domain. It binds to a diverse family of ligands that include MHC class I chain-related A and B proteins and UL-16 binding proteins, where ligand-receptor interactions can result in 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 protein 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 lectin-like receptor subfamily C, member 4) family member in the same cluster. [provided by RefSeq, Dec 2010] |
BCC1 GeneBasal cell carcinoma, susceptibility to, 1 |
BCC2 GeneBasal cell carcinoma, susceptibility to, 2 |
BCC3 GeneBasal cell carcinoma, susceptibility to, 3 |
METRNL Genemeteorin, glial cell differentiation regulator-like Predicted to enable hormone activity. Predicted to be involved in several processes, including brown fat cell differentiation; positive regulation of brown fat cell differentiation; and response to muscle activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025] |
VANGL2 GeneVANGL planar cell polarity protein 2 The protein encoded by this gene is a membrane protein involved in the regulation of planar cell polarity, especially in the stereociliary bundles of the cochlea. The encoded protein transmits directional signals to individual cells or groups of cells in epithelial sheets. This protein is also involved in the development of the neural plate. [provided by RefSeq, Sep 2011] |
LOC728739 Geneprogrammed cell death 2 pseudogene |
TRD GeneT cell receptor delta locus |
TRG GeneT cell receptor gamma locus T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor gamma locus. The gamma locus includes V (variable), J (joining), and C (constant) segments. During T cell development, the gamma chain is synthesized by a recombination event at the DNA level joining a V segment with a J segment; the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random addition of nucleotides by terminal deoxynucleotidyltransferase. Several V segments of the gamma locus are known to be incapable of encoding a protein and are considered pseudogenes. Somatic rearrangement of the gamma locus has been observed in T cells derived from patients with T cell leukemia and ataxia telangiectasia. [provided by RefSeq, Jul 2008] |
CDC42P4 Genecell division cycle 42 pseudogene 4 |
CDC42P6 Genecell division cycle 42 pseudogene 6 |
CDC42P1 Genecell division cycle 42 pseudogene 1 |
CDC42P2 Genecell division cycle 42 pseudogene 2 |
LOC100421630 Genecutaneous T-cell lymphoma-associated antigen 1 pseudogene |
CEND1P1 Genecell cycle exit and neuronal differentiation 1 pseudogene 1 |
CEND1P2 Genecell cycle exit and neuronal differentiation 1 pseudogene 2 |
ECT2 Geneepithelial cell transforming 2 The protein encoded by this gene is a guanine nucleotide exchange factor and transforming protein 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 remains elevated during G2 and M phases. In situ hybridization analysis showed that expression is at a high level in cells undergoing mitosis in regenerating liver. Thus, this protein is expressed in a cell cycle-dependent manner during liver regeneration, and is thought to have an important role in the regulation of cytokinesis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2017] |
TRDJ4 GeneT cell receptor delta joining 4 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRDJ1 GeneT cell receptor delta joining 1 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRDJ3 GeneT cell receptor delta joining 3 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRDJ2 GeneT cell receptor delta joining 2 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
SPDYE14P Genespeedy/RINGO cell cycle regulator family member E14, pseudogene Predicted to enable protein kinase binding activity. [provided by Alliance of Genome Resources, Mar 2025] |
KLRC1 Genekiller cell lectin-like receptor subfamily C, member 1 Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. The protein encoded by this gene belongs to the killer cell lectin-like receptor family, also called NKG2 family, which is a group of transmembrane proteins preferentially expressed in NK cells. This family of proteins is characterized by the type II membrane orientation and the presence of a C-type lectin domain. This protein forms a complex with another family member, KLRD1/CD94, and has been implicated in the recognition of the MHC class I HLA-E molecules in NK cells. The genes of NKG2 family members form a killer cell lectin-like receptor gene cluster on chromosome 12. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jan 2015] |
KLRC3 Genekiller cell lectin-like receptor subfamily C, member 3 Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. KLRC3 is a member of the NKG2 group which are expressed primarily in natural killer (NK) cells and encodes a family of transmembrane proteins characterized by a type II membrane orientation (extracellular C terminus) and the presence of a C-type lectin domain. The NKG2 gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed on NK cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] |
KLRC2 Genekiller cell lectin-like receptor subfamily C, member 2 Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. The group, designated KLRC (NKG2) are expressed primarily in natural killer (NK) cells and encodes a family of transmembrane proteins characterized by a type II membrane orientation (extracellular C terminus) and the presence of a C-type lectin domain. The KLRC (NKG2) gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed on NK cells. KLRC2 alternative splice variants have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] |
KLRC4 Genekiller cell lectin-like receptor subfamily C, member 4 Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. This gene is a member of the NKG2 group of genes that are expressed primarily in natural killer (NK) cells. These family members encode transmembrane proteins that are characterized by a type II membrane orientation (have an extracellular C-terminus) and the presence of a C-type lectin domain. This family member is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed in NK cells. Read-through transcription exists between this gene and the downstream KLRK1 (killer cell lectin-like receptor subfamily K, member 1) family member. [provided by RefSeq, Dec 2010] |
MALL Genemal, T-cell differentiation protein-like This gene encodes an element of the machinery for raft-mediated trafficking in endothelial cells. The encoded protein, a member of the MAL proteolipid family, predominantly localizes in glycolipid- and cholesterol-enriched membrane (GEM) rafts. It interacts with caveolin-1. [provided by RefSeq, Jul 2008] |
MAL2 Genemal, T-cell differentiation protein 2 (gene/pseudogene) This gene encodes a multispan transmembrane protein belonging to the MAL proteolipid family. The protein is a component of lipid rafts and, in polarized cells, it primarily localizes to endosomal structures beneath the apical membrane. It is required for transcytosis, an intracellular transport pathway used to deliver membrane-bound proteins and exogenous cargos from the basolateral to the apical surface. [provided by RefSeq, Jul 2008] |
MCF2L GeneMCF.2 cell line derived transforming sequence-like This gene encodes a guanine nucleotide exchange factor that interacts specifically with the GTP-bound Rac1 and plays a role in the Rho/Rac signaling pathways. A variant in this gene was associated with osteoarthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016] |
LOC105376731 Genetaste receptor cell protein 1-like |
ZER1 Genezyg-11 related, cell cycle regulator This gene encodes a subunit of an E3 ubiquitin ligase complex that may be involved in meiosis. The encoded protein contains three leucine-rich repeat motifs. [provided by RefSeq, Nov 2012] |
LOC100288590 Genecutaneous T-cell lymphoma-associated antigen 1 pseudogene |
LOC100967224 Geneneuroepithelial cell transforming 1 pseudogene |
LOC100967223 Geneneuroepithelial cell transforming 1 pseudogene |
BAD GeneBCL2-associated agonist of cell death The protein 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 protein positively regulates cell apoptosis by forming heterodimers with BCL-xL (B-cell lymphoma-extra large) and BCL-2, and reversing their death repressor activity. Proapoptotic activity of this protein is regulated through its phosphorylation. Protein kinases AKT and MAP kinase, as well as protein phosphatase calcineurin were found to be involved in the regulation of this protein. Alternative splicing of this gene results in two transcript variants which encode the same isoform. [provided by RefSeq, Dec 2019] |
HCFC2P1 Genehost cell factor C2 pseudogene 1 |
MCEMP1 Genemast cell-expressed membrane protein 1 This gene encodes a single-pass transmembrane protein. Based on its expression pattern, it is speculated to be involved in regulating mast cell differentiation or immune responses. [provided by RefSeq, Jul 2008] |
CDC16 Genecell division cycle 16 The protein encoded by this gene functions as a protein ubiquitin ligase and is a component of the multiprotein APC complex. The APC complex is a cyclin degradation system that governs exit from mitosis by targeting cell cycle proteins for degredation by the 26S proteasome. Each component protein of the APC complex is highly conserved among eukaryotic organisms. This protein, and other APC complex proteins, contain a tetratricopeptide repeat (TPR) domain; a protein domain that is often involved in protein-protein interactions and the assembly of multiprotein complexes. Multiple alternatively spliced transcript variants, encoding distinct proteins, have been identified. [provided by RefSeq, Jan 2016] |
BCAP29 GeneB-cell receptor-associated protein 29 Involved in osteoblast differentiation. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025] |
ECT2L Geneepithelial cell transforming 2 like Predicted to enable guanyl-nucleotide exchange factor activity. [provided by Alliance of Genome Resources, Mar 2025] |
SPDYE9P Genespeedy/RINGO cell cycle regulator family member E9, pseudogene Enables acetylcholine receptor regulator activity. [provided by Alliance of Genome Resources, Mar 2025] |
SPDYE5 Genespeedy/RINGO cell cycle regulator family member E5 Predicted to enable protein kinase binding activity. Predicted to be involved in positive regulation of cyclin-dependent protein serine/threonine kinase activity. [provided by Alliance of Genome Resources, Mar 2025] |
SPDYE6 Genespeedy/RINGO cell cycle regulator family member E6 This gene encodes a cell cycle regulatory protein which plays an important role in cell cycle progression by binding and activating cyclin-dependent kinases. The encoded protein belongs to a family of cyclin-dependent kinase regulators that contain a speedy box domain which is required for cyclin-dependent kinase activation. [provided by RefSeq, Jul 2017] |
SPDYE1 Genespeedy/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] |
SPDYE3 Genespeedy/RINGO cell cycle regulator family member E3 Predicted to enable protein kinase binding activity. [provided by Alliance of Genome Resources, Mar 2025] |
SPDYE2 Genespeedy/RINGO cell cycle regulator family member E2 Predicted to enable protein kinase binding activity. [provided by Alliance of Genome Resources, Mar 2025] |
ERAS GeneES cell expressed Ras This gene encodes a constitutively active member of the small GTPase Ras protein family. The encoded protein activates the phosphatidylinositol 3-kinase signal transduction pathway in undifferentiated stem cells, but is not expressed in differentiated cells. This gene may be involved in cancer and chemotherapy resistance. [provided by RefSeq, Dec 2012] |
TGCT1 Genetesticular germ cell tumor susceptibility 1 |
ICA1 Geneislet cell autoantigen 1, 69kDa This gene encodes a protein with an arfaptin homology domain that is found both in the cytosol and as membrane-bound form on the Golgi complex and immature secretory granules. This protein is believed to be an autoantigen in insulin-dependent diabetes mellitus and primary Sjogren's syndrome. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2013] |
LOC100420644 Genecell division cycle associated 8 pseudogene |
CDC6 Genecell division cycle 6 The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc6, a protein essential for the initiation of DNA replication. This protein functions as a regulator at the early steps of DNA replication. It localizes in cell nucleus during cell cyle G1, but translocates to the cytoplasm at the start of S phase. The subcellular translocation of this protein during cell cyle is regulated through its phosphorylation by Cdks. Transcription of this protein was reported to be regulated in response to mitogenic signals through transcriptional control mechanism involving E2F proteins. [provided by RefSeq, Jul 2008] |
CDC7 Genecell division cycle 7 This gene encodes a cell division cycle protein with kinase activity that is critical for the G1/S transition. The yeast homolog is also essential for initiation 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 protein have been detected. [provided by RefSeq, Aug 2008] |
CEACAMP10 Genecarcinoembryonic antigen-related cell adhesion molecule pseudogene 10 |
CEACAMP11 Genecarcinoembryonic antigen-related cell adhesion molecule pseudogene 11 |
ITK GeneIL2-inducible T-cell kinase This gene encodes an intracellular tyrosine kinase expressed in T-cells. The protein contains both SH2 and SH3 domains which are often found in intracellular kinases. It is thought to play a role in T-cell proliferation and differentiation. [provided by RefSeq, Jul 2008] |
BCL9L GeneB-cell CLL/lymphoma 9-like Enables beta-catenin binding activity. Involved in several processes, including negative regulation of transforming growth factor beta receptor signaling pathway; positive regulation of epithelial to mesenchymal transition; and positive regulation of transcription by RNA polymerase II. Located in fibrillar center and nucleoplasm. Part of beta-catenin-TCF complex. [provided by Alliance of Genome Resources, Mar 2025] |
SPDYE18 Genespeedy/RINGO cell cycle regulator family member E18 Predicted to enable protein kinase binding activity. [provided by Alliance of Genome Resources, Mar 2025] |
ESM1 Geneendothelial cell-specific molecule 1 This gene encodes a secreted protein which is mainly expressed in the endothelial cells in human lung and kidney tissues. The expression of this gene is regulated by cytokines, suggesting that it may play a role in endothelium-dependent pathological disorders. The transcript contains multiple polyadenylation and mRNA instability signals. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] |
MAK Genemale germ cell-associated kinase The product of this gene is a serine/threonine protein kinase related to kinases involved in cell cycle regulation. Studies of the mouse and rat homologs have localized the kinase to the chromosomes during meiosis in spermatogenesis, specifically to the synaptonemal complex that exists while homologous chromosomes are paired. Mutations in this gene have been associated with ciliary defects resulting in retinitis pigmentosa 62. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] |
MAL Genemal, T-cell differentiation protein The protein encoded by this gene is a highly hydrophobic integral membrane protein belonging to the MAL family of proteolipids. The protein has been localized to the endoplasmic reticulum of T-cells and is a candidate linker protein in T-cell signal transduction. In addition, this proteolipid is localized in compact myelin of cells in the nervous system and has been implicated in myelin biogenesis and/or function. The protein plays a role in the formation, stabilization and maintenance of glycosphingolipid-enriched membrane microdomains. Down-regulation of this gene has been associated with a variety of human epithelial malignancies. Alternative splicing 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] |
CDC37L1 Genecell division cycle 37-like 1 CDC37L1 is a cytoplasmic phosphoprotein that exists in complex with HSP90 (HSPCA; MIM 140571) as well as several other proteins involved in HSP90-mediated protein folding (Scholz et al., 2001 [PubMed 11413142]).[supplied by OMIM, Mar 2008] |
CEACAMP8 Genecarcinoembryonic antigen-related cell adhesion molecule pseudogene 8 |
CEACAMP9 Genecarcinoembryonic antigen-related cell adhesion molecule pseudogene 9 |
CEACAMP2 Genecarcinoembryonic antigen-related cell adhesion molecule pseudogene 2 |
CEACAMP3 Genecarcinoembryonic antigen-related cell adhesion molecule pseudogene 3 |
CEACAMP1 Genecarcinoembryonic antigen-related cell adhesion molecule pseudogene 1 |
CEACAMP6 Genecarcinoembryonic antigen-related cell adhesion molecule pseudogene 6 |
CEACAMP7 Genecarcinoembryonic antigen-related cell adhesion molecule pseudogene 7 |
CEACAMP4 Genecarcinoembryonic antigen-related cell adhesion molecule pseudogene 4 |
CEACAMP5 Genecarcinoembryonic antigen-related cell adhesion molecule pseudogene 5 |
LOC105369139 Genekiller cell immunoglobulin-like receptor 2DS3 |
PCNAP3 Geneproliferating cell nuclear antigen pseudogene 3 |
LOC100420949 Geneneuroepithelial cell transforming 1 pseudogene |
ICOSLG Geneinducible T-cell co-stimulator ligand Enables identical protein binding activity and receptor ligand activity. Involved in T follicular helper cell differentiation. Located in intracellular membrane-bounded organelle. Is active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
DSCAML1 GeneDown syndrome cell adhesion molecule like 1 The protein encoded by this gene is a member of the Ig superfamily of cell adhesion molecules and is involved in neuronal differentiation. The encoded membrane-bound protein localizes to the cell surface, where it forms aggregates that repel neuronal processes of the same cell type. [provided by RefSeq, Sep 2016] |
CIDEB Genecell death-inducing DFFA-like effector b Enables identical protein binding activity. Involved in lipid droplet fusion and positive regulation of apoptotic process. Acts upstream of or within apoptotic process. Located in cytosol and perinuclear region of cytoplasm. Is active in lipid droplet. [provided by Alliance of Genome Resources, Mar 2025] |
CEACAM22P Genecarcinoembryonic antigen-related cell adhesion molecule 22, pseudogene |
TP250 GeneT-cell activation antigen p250 |
MCF2L2 GeneMCF.2 cell line derived transforming sequence-like 2 Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be located in cytosol. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
CGREF1 Genecell growth regulator with EF-hand domain 1 Predicted to enable calcium ion binding activity. Predicted to be involved in negative regulation of cell population proliferation. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025] |
LOC651714 Genemucin 20, cell surface associated pseudogene |
BCL10 GeneB-cell CLL/lymphoma 10 This gene was identified by its translocation in a case of mucosa-associated lymphoid tissue (MALT) lymphoma. The protein encoded by this gene contains a caspase recruitment domain (CARD), and has been shown to induce apoptosis and to activate NF-kappaB. This protein is reported to interact with other CARD domain containing proteins including CARD9, 10, 11 and 14, which are thought to function as upstream regulators in NF-kappaB signaling. This protein is found to form a complex with MALT1, a protein encoded by another gene known to be translocated in MALT lymphoma. MALT1 and this protein are thought to synergize in 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 splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016] |
L1CAM GeneL1 cell adhesion molecule The protein encoded by this gene is an axonal glycoprotein belonging to the immunoglobulin supergene family. The ectodomain, consisting of several immunoglobulin-like domains and fibronectin-like repeats (type III), is linked via a single transmembrane sequence to a conserved cytoplasmic domain. This cell adhesion molecule plays an important role in nervous system development, including neuronal migration and differentiation. Mutations in the gene cause X-linked neurological syndromes known as CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of this gene results in multiple transcript variants, some of which include an alternate exon that is considered to be specific to neurons. [provided by RefSeq, May 2013] |
TS546 GeneTemperature sensitivity complementation, cell cycle specific |
CAPRIN1 Genecell cycle associated protein 1 Enables several functions, including ATP binding activity; molecular condensate scaffold activity; and signaling adaptor activity. Involved in membraneless organelle assembly; positive regulation of stress granule assembly; and regulation of gene expression. Located in cell leading edge and cytosol. Is active in intracellular membraneless organelle. [provided by Alliance of Genome Resources, Mar 2025] |
ESRG Geneembryonic stem cell related (non-protein coding) Part of nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
KLRF2 Genekiller cell lectin-like receptor subfamily F, member 2 Enables protein homodimerization activity. Predicted to be involved in natural killer cell degranulation and positive regulation of cytokine production. Predicted to act upstream of or within natural killer cell activation and positive regulation of natural killer cell mediated cytotoxicity. Located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
KLRF1 Genekiller cell lectin-like receptor subfamily F, member 1 KLRF1, an activating homodimeric C-type lectin-like receptor (CTLR), is expressed on nearly all natural killer (NK) cells and stimulates their cytoxicity and cytokine release (Kuttruff et al., 2009 [PubMed 18922855]).[supplied by OMIM, Oct 2009] |
SPDYE19P Genespeedy/RINGO cell cycle regulator family member E19, pseudogene |
FAS GeneFas cell surface death receptor The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains a death domain. It has been shown to play a central role in the physiological regulation of programmed cell death, and has been implicated in the pathogenesis of various malignancies and diseases of the immune system. The interaction of this receptor with its ligand allows the formation of a death-inducing signaling complex that includes Fas-associated death domain protein (FADD), caspase 8, and caspase 10. The autoproteolytic processing of the caspases in the complex triggers a downstream caspase cascade, and leads to apoptosis. This receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be involved in transducing the proliferating signals in 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 lacking the transmembrane domain may negatively regulate the apoptosis mediated by the full length isoform. [provided by RefSeq, Mar 2011] |
SART3 Genesquamous cell carcinoma antigen recognized by T cells 3 The protein encoded by this gene is an RNA-binding nuclear protein that is a tumor-rejection antigen. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in 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 during the recycling phase of the spliceosome cycle. This encoded protein is thought to be involved in the regulation of mRNA splicing. [provided by RefSeq, Jul 2008] |
LECT1 Geneleukocyte cell derived chemotaxin 1 This gene encodes a glycosylated transmembrane protein that is cleaved to form a mature, secreted protein. The N-terminus of the precursor protein shares characteristics with other surfactant proteins and is sometimes called chondrosurfactant protein although no biological activity has yet been defined for it. The C-terminus of the precursor protein contains a 25 kDa mature protein called leukocyte cell-derived chemotaxin-1 or chondromodulin-1. The mature protein promotes chondrocyte growth and inhibits angiogenesis. This gene is expressed in the avascular zone of prehypertrophic cartilage and its expression decreases during chondrocyte hypertrophy and vascular invasion. The mature protein likely plays a role in endochondral bone development by permitting cartilaginous anlagen to be vascularized and replaced by bone. It may be involved also in the broad control of tissue vascularization during development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] |
LECT2 Geneleukocyte cell-derived chemotaxin 2 This gene encodes a secreted, 16 kDa protein that acts as a chemotactic factor to neutrophils and stimulates the growth of chondrocytes and osteoblasts. This protein has high sequence similarity to the chondromodulin repeat regions of the chicken myb-induced myeloid 1 protein. A polymorphism in this gene may be associated with rheumatoid arthritis. [provided by RefSeq, Jul 2008] |
OPCML Geneopioid binding protein/cell adhesion molecule-like This gene encodes a member of the IgLON subfamily in the immunoglobulin protein superfamily of proteins. The encoded preprotein is proteolytically processed to generate the mature protein. This protein is localized in the plasma membrane and may have an accessory role in opioid receptor function. This gene has an ortholog in rat and bovine. The opioid binding-cell adhesion molecule encoded by the rat gene binds opioid alkaloids in the presence of acidic lipids, exhibits selectivity for mu ligands and acts as a GPI-anchored protein. Since the encoded protein is highly conserved in species during evolution, it may have a fundamental role in mammalian systems. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016] |
WDPCP GeneWD repeat containing planar cell polarity effector This gene encodes a cytoplasmic WD40 repeat protein. A similar gene in frogs encodes a planar cell polarity protein that plays a critical role in collective cell movement and ciliogenesis by mediating septin localization. Mutations in this gene are associated with Bardet-Biedl syndrome 15 and may also play a role in Meckel-Gruber syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] |
LOC440059 Genecell adhesion associated, oncogene regulated pseudogene |
SPDYE17 Genespeedy/RINGO cell cycle regulator family member E17 Enables acetylcholine receptor regulator activity. [provided by Alliance of Genome Resources, Mar 2025] |
SPDYE16 Genespeedy/RINGO cell cycle regulator family member E16 Predicted to enable protein kinase binding activity. [provided by Alliance of Genome Resources, Mar 2025] |
SPDYA Genespeedy/RINGO cell cycle regulator family member A Enables protein kinase activator activity and protein kinase binding activity. Involved in several processes, including G1/S transition of mitotic cell cycle; positive regulation of cell population proliferation; and positive regulation of protein kinase activity. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
SPDYC Genespeedy/RINGO cell cycle regulator family member C Enables protein kinase binding activity. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
BLACE GeneB-cell acute lymphoblastic leukemia expressed |
LOC100131557 Geneprogrammed cell death 2-like pseudogene |
LOC100128800 Genecell adhesion associated, oncogene regulated pseudogene |
KIR3DP1 Genekiller cell immunoglobulin-like receptor, three domains, pseudogene 1 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in 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 domains compared to other killer cell immunoglobulin-like receptors. A rare haplotype, the result of a recombinantion event, has two copies of this gene, one of which may encode a secreted protein. (PMID: 15580659)[provided by RefSeq, Mar 2011] |
SENCR Genesmooth muscle and endothelial cell enriched migration/differentiation-associated long non-coding RNA |
BLNK GeneB-cell linker This gene encodes a cytoplasmic linker or adaptor protein that plays a critical role in B cell development. This protein bridges B cell receptor-associated kinase activation with downstream signaling pathways, thereby affecting various biological functions. The phosphorylation of five tyrosine residues is necessary for this protein to nucleate distinct signaling effectors following B cell receptor activation. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. Deficiency in this protein has also been shown in some cases of pre-B acute lymphoblastic leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012] |
TARM1 GeneT cell-interacting, activating receptor on myeloid cells 1
Enables immunoglobulin receptor binding activity. Involved in negative regulation of CD4-positive, |
TIMD4 GeneT-cell immunoglobulin and mucin domain containing 4 Predicted to enable phosphatidylserine binding activity. Predicted to be involved in apoptotic cell clearance and cytoskeletal rearrangement involved in phagocytosis, engulfment. Predicted to be located in extracellular region and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
LOC100420144 Genemediator of cell motility 1 pseudogene |
MUC3A Genemucin 3A, cell surface associated The mucin genes encode epithelial glycoproteins, some of which are secreted and some membrane bound. Each of the genes contains at least one large domain of tandemly repeated sequence that encodes the peptide sequence rich in serine and/or threonine residues, which carries most of the O-linked glycosylation (Gendler and Spicer, 1995 [PubMed 7778880]).[supplied by OMIM, Aug 2008] |
MUC3B Genemucin 3B, cell surface associated Predicted to be located in Golgi lumen and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
DAD1 Genedefender against cell death 1 DAD1, the defender against apoptotic cell death, was initially identified as a negative regulator of programmed cell death in the temperature sensitive tsBN7 cell line. The DAD1 protein disappeared in temperature-sensitive cells following a shift to the nonpermissive temperature, suggesting that loss of the DAD1 protein triggered apoptosis. DAD1 is believed to be a tightly associated subunit of oligosaccharyltransferase both in the intact membrane and in the purified enzyme, thus reflecting the essential nature of N-linked glycosylation in eukaryotes. [provided by RefSeq, Jul 2008] |
HCFC2 Genehost cell factor C2 This gene encodes one of two proteins which interact with VP16, a herpes simplex virus protein that initiates virus infection. Both the encoded protein and the original Herpes host cell factor interact with VP16 through a beta-propeller domain. The original Herpes host cell factor, however, is effective at initiating viral infection while the encoded protein is not. Transcripts of varying length due to alternative polyadenylation signals have been described. [provided by RefSeq, Jul 2008] |
HCFC1 Genehost cell factor C1 This gene is a member of the host cell factor family and encodes a protein with five Kelch repeats, a fibronectin-like motif, and six HCF repeats, each of which contains a highly specific cleavage signal. This nuclear coactivator is proteolytically cleaved at one of the six possible sites, resulting in the creation of an N-terminal chain and the corresponding C-terminal chain. The final form of this protein consists of noncovalently bound N- and C-terminal chains. The protein is involved in control of the cell cycle and transcriptional regulation during herpes simplex virus infection. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] |
BCAP31P2 GeneB-cell receptor-associated protein 31 pseudogene 2 |
MS4A3 Genemembrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) This gene encodes a member of the membrane-spanning 4A gene family. Members of this protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This family member likely plays a role in signal transduction and may function as a subunit associated with receptor complexes. The gene encoding this protein is localized to 11q12, among a cluster of related family members. Alternative splicing may result in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008] |
KIR2DP1 Genekiller cell immunoglobulin-like receptor, two domains, pseudogene 1 Predicted to be involved in immune response-regulating signaling pathway. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TCAM1P Genetesticular 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 in mouse encodes a testis-specific cell adhesion protein that may play a role in germ cell-Sertoli cell interactions. [provided by RefSeq, Apr 2012] |
BST1 Genebone marrow stromal cell antigen 1 Bone marrow stromal cell antigen-1 is a stromal cell line-derived glycosylphosphatidylinositol-anchored molecule that facilitates pre-B-cell growth. The deduced amino acid sequence exhibits 33% similarity with CD38. BST1 expression is enhanced in bone marrow stromal cell lines derived from patients with rheumatoid arthritis. The polyclonal B-cell abnormalities in rheumatoid arthritis may be, at least in part, attributed to BST1 overexpression in the stromal cell population. [provided by RefSeq, Jul 2008] |
BST2 Genebone marrow stromal cell antigen 2 Bone marrow stromal cells are involved in the growth and development of B-cells. The specific function of the protein encoded by the bone marrow stromal cell antigen 2 is undetermined; however, this protein may play a role in pre-B-cell growth and in rheumatoid arthritis. [provided by RefSeq, Jul 2008] |
PCP4L1 GenePurkinje cell protein 4 like 1 |
PDCD6IP Geneprogrammed cell death 6 interacting protein This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012] |
FCP1 GeneF-cell production 1 |
TRGV11 GeneT cell receptor gamma variable 11 (non-functional) Predicted to be involved in adaptive immune response. Predicted to be located in external side of plasma membrane. Predicted to be part of T cell receptor complex. [provided by Alliance of Genome Resources, Mar 2025] |
NEDD4 Geneneural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase This gene is the founding member of the NEDD4 family of HECT ubiquitin ligases that function in the ubiquitin proteasome system of protein degradation. The encoded protein contains an N-terminal calcium and phospholipid binding C2 domain followed by multiple tryptophan-rich WW domains and, a C-terminal HECT ubiquitin ligase catalytic domain. It plays critical role in the regulation of a number of membrane receptors, endocytic machinery components and the tumor suppressor PTEN. [provided by RefSeq, Jul 2016] |
SPDYE20P Genespeedy/RINGO cell cycle regulator family member E20, pseudogene |
UTF1 Geneundifferentiated embryonic cell transcription factor 1 The protein encoded by this gene is a leucine zipper-containing transcriptional coactivator that may link the upstream activator ATF2 with the basal transcription complex. The encoded protein is closely associated with chromatin and is required for the proper differentiation of embryonic carcinoma and embryonic stem cells. Found nearly exclusively in pluripotent cells, this protein can also serve as a transcriptional repressor. [provided by RefSeq, Nov 2015] |
CEACAM1 Genecarcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) This gene encodes a member of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily. Two subgroups of the CEA family, the CEA cell adhesion molecules and the pregnancy-specific glycoproteins, are located within a 1.2 Mb cluster on the long arm of chromosome 19. Eleven pseudogenes of the CEA cell adhesion molecule subgroup are also found in the cluster. The encoded protein was originally described in bile ducts of liver as biliary glycoprotein. Subsequently, it was found to be a cell-cell adhesion molecule detected on leukocytes, epithelia, and endothelia. The encoded protein mediates cell adhesion via homophilic as well as heterophilic binding to other proteins of the subgroup. Multiple cellular activities have been attributed to the encoded protein, including roles in the differentiation and arrangement of tissue three-dimensional structure, angiogenesis, apoptosis, tumor suppression, metastasis, and the modulation of innate and adaptive immune responses. Multiple transcript variants encoding different isoforms have been reported, but the full-length nature of all variants has not been defined. [provided by RefSeq, May 2010] |
CEACAM3 Genecarcinoembryonic antigen-related cell adhesion molecule 3 This gene encodes a member of the family of carcinoembryonic antigen-related cell adhesion molecules (CEACAMs), which are used by several bacterial pathogens to bind and invade host cells. The encoded transmembrane protein directs phagocytosis of several bacterial species that is dependent on the small GTPase Rac. It is thought to serve an important role in controlling human-specific pathogens by the innate immune system. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2013] |
CEACAM5 Genecarcinoembryonic antigen-related cell adhesion molecule 5 This gene encodes a cell surface glycoprotein that represents the founding member of the carcinoembryonic antigen (CEA) family of proteins. The encoded protein is used as a clinical biomarker for gastrointestinal cancers and may promote tumor development through its role as a cell adhesion molecule. Additionally, the encoded protein may regulate differentiation, apoptosis, and cell polarity. This gene is present in a CEA family gene cluster on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015] |
CEACAM4 Genecarcinoembryonic antigen-related cell adhesion molecule 4 Predicted to enable protein tyrosine kinase binding activity. Involved in phagocytosis. Predicted to be located in membrane. Predicted to be active in cell surface and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
CEACAM7 Genecarcinoembryonic antigen-related cell adhesion molecule 7 This gene encodes a cell surface glycoprotein and member of the carcinoembryonic antigen (CEA) family of proteins. Expression of this gene may be downregulated in colon and rectal cancer. Additionally, lower expression levels of this gene may be predictive of rectal cancer recurrence. This gene is present in a CEA family gene cluster on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015] |
CEACAM6 Genecarcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) This gene encodes a protein that belongs to the carcinoembryonic antigen (CEA) family whose members are glycosyl phosphatidyl inositol (GPI) anchored cell surface glycoproteins. Members of this family play a role in cell adhesion and are widely used as tumor markers in serum immunoassay determinations of carcinoma. This gene affects the sensitivity of tumor cells to adenovirus infection. The protein encoded by this gene acts as a receptor for adherent-invasive E. coli adhesion to the surface of ileal epithelial cells in 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] |
CEACAM8 Genecarcinoembryonic antigen-related cell adhesion molecule 8 Enables protein heterodimerization activity. Involved in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules. Located in cell surface and extracellular space. Biomarker of severe acute respiratory syndrome. [provided by Alliance of Genome Resources, Mar 2025] |
HIRAP1 Genehistone cell cycle regulator pseudogene 1 |
CDC42P3 Genecell division cycle 42 pseudogene 3 |
BCAM Genebasal cell adhesion molecule (Lutheran blood group) This gene encodes Lutheran blood group glycoprotein, a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five extracellular immunoglobulin domains, a single transmembrane domain, and a short C-terminal cytoplasmic tail. This protein may play a role in epithelial cell cancer and in vaso-occlusion of red blood cells in sickle cell disease. Polymorphisms in this gene define some of the antigens in the Lutheran system and also the Auberger system. Inactivating variants of this gene result in the recessive Lutheran null phenotype, Lu(a-b-), of the Lutheran blood group. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] |
CWF19L1 GeneCWF19-like 1, cell cycle control (S. pombe) This gene encodes a member of the CWF19 protein family. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia-17 and mild cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] |
CWF19L2 GeneCWF19-like 2, cell cycle control (S. pombe) Predicted to be involved in mRNA splicing, via spliceosome. Predicted to be located in nucleoplasm. Predicted to be part of post-mRNA release spliceosomal complex. [provided by Alliance of Genome Resources, Mar 2025] |
KIR2DL3 Genekiller cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] |
KIR2DL2 Genekiller cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] |
KIR2DL1 Genekiller cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] |
KIR2DL4 Genekiller cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in 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 splicing results in multiple transcript variants, some of which may not be annotated on the primary reference assembly. [provided by RefSeq, Jul 2016] |
LOC100422671 Genecell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) pseudogene |
GMCL1 Genegerm cell-less, spermatogenesis associated 1 This gene encodes a nuclear envelope protein that appears to be involved in spermatogenesis, either directly or by influencing genes that play a more direct role in the process. This multi-exon locus is the homolog of the mouse and drosophila germ cell-less gene but the human genome also contains a single-exon locus on chromosome 5 that contains an open reading frame capable of encoding a highly-related protein. [provided by RefSeq, Jul 2008] |
CADM4 Genecell adhesion molecule 4 Enables vascular endothelial growth factor receptor 2 binding activity. Involved in several processes, including negative regulation of protein phosphorylation; regulation of Rac protein signal transduction; and regulation of wound healing. Located in cell leading edge and cell-cell contact zone. [provided by Alliance of Genome Resources, Mar 2025] |
CADM2 Genecell adhesion molecule 2 This gene encodes a member of the synaptic cell adhesion molecule 1 (SynCAM) family which belongs to the immunoglobulin (Ig) superfamily. The encoded protein has three Ig-like domains and a cytosolic protein 4.1 binding site near the C-terminus. Proteins belonging to the protein 4.1 family crosslink spectrin and interact with other cytoskeletal proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] |
CADM3 Genecell adhesion molecule 3 The protein encoded by this gene is a calcium-independent cell-cell adhesion protein that can form homodimers or heterodimers with other nectin proteins. The encoded protein has both homophilic and heterophilic cell-cell adhesion activity. This gene is reported to be a tumor suppressor gene. [provided by RefSeq, Oct 2016] |
CADM1 Genecell adhesion molecule 1 Enables signaling receptor binding activity. Involved in several processes, including cell recognition; positive regulation of cytokine production; and susceptibility to natural killer cell mediated cytotoxicity. Located in plasma membrane. Implicated in breast carcinoma and prostate cancer. Biomarker of cervix uteri carcinoma in situ. [provided by Alliance of Genome Resources, Mar 2025] |
LOC101927197 Genecell death activator CIDE-3-like |
LOC105369971 Genevegetative cell wall protein gp1-like |
CMA1 Genechymase 1, mast cell This gene encodes a chymotryptic serine proteinase that belongs to the peptidase family S1. It is expressed in mast cells and is thought to function in the degradation of the extracellular matrix, the regulation of submucosal gland secretion, and the generation of vasoactive peptides. In the heart and blood vessels, this protein, rather than angiotensin converting enzyme, is largely responsible for converting angiotensin I to the vasoactive peptide angiotensin II. Alternative splicing results in multiple variants. [provided by RefSeq, Apr 2015] |
BCL11A GeneB-cell CLL/lymphoma 11A (zinc finger protein) This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
BCL11B GeneB-cell CLL/lymphoma 11B (zinc finger protein) This gene encodes a C2H2-type zinc finger protein 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 determined, the encoded protein is known to be a transcriptional repressor, and is regulated by the NURD nucleosome remodeling and histone deacetylase complex. Four alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2013] |
BOD1P2 Genebiorientation of chromosomes in cell division 1 pseudogene 2 |
BOD1P1 Genebiorientation of chromosomes in cell division 1 pseudogene 1 |
NKCD GeneNatural killer cell deficiency, familial isolated |
LOC101409262 Genecell division cycle 42 pseudogene |
FZR1 Genefizzy/cell division cycle 20 related 1 (Drosophila) Enables ubiquitin-like ligase-substrate adaptor activity. Involved in anaphase-promoting complex-dependent catabolic process; mitotic G2 DNA damage checkpoint signaling; and positive regulation of ubiquitin protein ligase activity. Located in nuclear membrane and nucleoplasm. Implicated in developmental and epileptic encephalopathy 109. [provided by Alliance of Genome Resources, Mar 2025] |
RIPOR1 GeneRHO family interacting cell polarization regulator 1 Enables 14-3-3 protein binding activity. Involved in several processes, including establishment of Golgi localization; negative regulation of Rho guanyl-nucleotide exchange factor activity; and negative regulation of Rho protein signal transduction. Located in Golgi apparatus; cell leading edge; and membrane. [provided by Alliance of Genome Resources, Mar 2025] |
NECTIN1 Genenectin cell adhesion molecule 1 This gene encodes an adhesion protein that plays a role in the organization of adherens junctions and tight junctions in epithelial and endothelial cells. The protein is a calcium(2+)-independent cell-cell adhesion molecule that belongs to the immunoglobulin superfamily and has 3 extracellular immunoglobulin-like loops, a single transmembrane domain (in some isoforms), and a cytoplasmic region. This protein acts as a receptor for glycoprotein D (gD) of herpes simplex viruses 1 and 2 (HSV-1, HSV-2), and pseudorabies virus (PRV) and mediates viral entry into epithelial and neuronal cells. Mutations in 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 splicing results in multiple transcript variants encoding proteins with distinct C-termini. [provided by RefSeq, Oct 2009] |
CEMIP2 Genecell migration inducing hyaluronidase 2 This gene encodes a type II transmembrane protein that belongs to the interferon-induced transmembrane (IFITM) protein superfamily. The encoded protein functions as a cell surface hyaluronidase that cleaves extracellular high molecular weight hyaluronan into intermediate size fragments before internalization and degradation in the lysosome. It also has an interferon-mediated antiviral function in humans through activation of the JAK STAT signaling pathway. The activation of this gene by transcription factor SOX4 in breast cancer cells has been shown to mediate the pathological effects of SOX4 on cancer progression. Naturally occurring mutations in this gene are associated with autosomal recessive non-syndromic hearing loss. [provided by RefSeq, Mar 2017] |
NECTIN4 Genenectin cell adhesion molecule 4 This gene encodes a member of the nectin family. The encoded protein contains two immunoglobulin-like (Ig-like) C2-type domains and one Ig-like V-type domain. It is involved in cell adhesion through trans-homophilic and -heterophilic interactions. It is a single-pass type I membrane protein. The soluble form is produced by proteolytic cleavage at the cell surface by the metalloproteinase ADAM17/TACE. The secreted form is found in both breast tumor cell lines and breast tumor patients. Mutations in 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 determined.[provided by RefSeq, Jan 2011] |
NECTIN2 Genenectin cell adhesion molecule 2 This gene encodes a single-pass type I membrane glycoprotein with two Ig-like C2-type domains and an Ig-like V-type domain. This protein is one of the plasma membrane components of adherens junctions. It also serves as an entry for certain mutant strains of herpes simplex virus and pseudorabies virus, and it is involved in cell to cell spreading of these viruses. Variations in this gene have been associated with differences in the severity of multiple sclerosis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] |
PATJ GenePATJ crumbs cell polarity complex component This gene encodes a protein with multiple PDZ domains. PDZ domains mediate protein-protein interactions, and proteins with multiple PDZ domains often organize multimeric complexes at the plasma membrane. This protein localizes to tight junctions and to the apical membrane of epithelial cells. A similar protein in Drosophila is a scaffolding protein which tethers several members of a multimeric signaling complex in photoreceptors. [provided by RefSeq, Jul 2008] |
NECTIN3 Genenectin cell adhesion molecule 3 This gene encodes a member of the nectin family of proteins, which function as adhesion molecules at adherens junctions. This family member interacts with other nectin-like proteins and with afadin, a filamentous actin-binding protein involved in the regulation of directional motility, cell proliferation and survival. This gene plays a role in ocular development involving the ciliary body. Mutations in this gene are believed to result in congenital ocular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] |
RIPOR2 GeneRHO family interacting cell polarization regulator 2 This gene encodes an atypical inhibitor of the small G protein RhoA. Inhibition of RhoA activity by the encoded protein mediates myoblast fusion and polarization of T cells and neutrophils. The encoded protein is a component of hair cell stereocilia that is essential for hearing. A splice site mutation in this gene results in hearing loss in human patients. [provided by RefSeq, Sep 2016] |
ALPG Genealkaline phosphatase, germ cell There are at least four distinct but related alkaline phosphatases: intestinal, 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 certain germ cell tumors, that is closely related to both the placental and intestinal forms of alkaline phosphatase. [provided by RefSeq, Jul 2008] |
GMCL2 Genegerm 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 single-exon nature, this chromosome 5 locus contains an open reading frame that could putatively encode a full-length germ cell-less related protein. [provided by RefSeq, Jul 2008] |
CYREN Genecell cycle regulator of NHEJ Predicted to enable molecular adaptor activity. Involved in double-strand break repair via nonhomologous end joining and negative regulation of double-strand break repair via nonhomologous end joining. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
DELE1 GeneDAP3 binding cell death enhancer 1 Enables protein kinase binding activity and protein serine/threonine kinase activator activity. Involved in several processes, including HRI-mediated signaling; positive regulation of mitophagy; and response to iron ion starvation. Located in mitochondrial inner membrane. Is active in cytosol and mitochondrial outer membrane. [provided by Alliance of Genome Resources, Mar 2025] |
SPDYE9 Genespeedy/RINGO cell cycle regulator family member E9 Enables acetylcholine receptor regulator activity. [provided by Alliance of Genome Resources, Mar 2025] |
PPDPFL Genepancreatic progenitor cell differentiation and proliferation factor like Predicted to be involved in cell differentiation. [provided by Alliance of Genome Resources, Mar 2025] |
SPDYE10 Genespeedy/RINGO cell cycle regulator family member E10 Enables acetylcholine receptor regulator activity. [provided by Alliance of Genome Resources, Mar 2025] |
GCNA Genegerm cell nuclear acidic peptidase Enables SUMO polymer binding activity. Involved in protein-DNA covalent cross-linking repair. Located in PML body. Implicated in X-linked spermatogenic failure 4. [provided by Alliance of Genome Resources, Mar 2025] |
SPDYE21 Genespeedy/RINGO cell cycle regulator family member E21 Predicted to enable protein kinase binding activity. [provided by Alliance of Genome Resources, Mar 2025] |
RHEX Generegulator of hemoglobinization and erythroid cell expansion Enables erythropoietin receptor binding activity. Involved in erythropoietin-mediated signaling pathway and positive regulation of erythrocyte differentiation. Located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
SPDYE12 Genespeedy/RINGO cell cycle regulator family member E12 Predicted to enable protein kinase binding activity. [provided by Alliance of Genome Resources, Mar 2025] |
KLRA1P Genekiller cell lectin like receptor A1, pseudogene |
NALT1 GeneNOTCH1 associated lncRNA in T cell acute lymphoblastic leukemia 1 |
CIDECP1 Genecell death inducing DFFA like effector c pseudogene 1 |
MUC20P1 Genemucin 20, cell surface associated pseudogene 1 |
PICSAR GeneP38 inhibited cutaneous squamous cell carcinoma associated lincRNA |
NICOL1 GeneNELL2 interacting cell ontogeny regulator 1 Predicted to enable mRNA 3'-UTR binding activity. Predicted to be involved in 3'-UTR-mediated mRNA stabilization and spermatogenesis. Predicted to be located in perinuclear region of cytoplasm. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025] |
LCDR Genelysosome cell death regulator |
SCIRT Genestem cell inhibitory RNA transcript |
SPDYE13 Genespeedy/RINGO cell cycle regulator family member E13 Enables acetylcholine receptor regulator activity. [provided by Alliance of Genome Resources, Mar 2025] |
SPDYE8 Genespeedy/RINGO cell cycle regulator family member E8 Enables acetylcholine receptor regulator activity. [provided by Alliance of Genome Resources, Mar 2025] |
SPDYE14 Genespeedy/RINGO cell cycle regulator family member E14 Predicted to enable protein kinase binding activity. [provided by Alliance of Genome Resources, Mar 2025] |
CDC50A Genecell division cycle 50 P4-ATPase accessory subunit A Enables aminophospholipid flippase activity and structural molecule activity. Involved in several processes, including phospholipid transport; positive regulation of transport; and xenobiotic transmembrane transport. Located in endoplasmic reticulum and plasma membrane. Part of early endosome membrane; late endosome membrane; and phospholipid-translocating ATPase complex. [provided by Alliance of Genome Resources, Mar 2025] |
CDC50B Genecell division cycle 50 P4-ATPase accessory subunit B Enables aminophospholipid flippase activity. Involved in aminophospholipid transport and positive regulation of protein exit from endoplasmic reticulum. Part of phospholipid-translocating ATPase complex and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
LOC112268354 Genekiller cell immunoglobulin-like receptor 2DL4-like |
LOC643634 Genetropomyosin 1 (alpha) pseudogene |
ITGA8 Geneintegrin, alpha 8 Integrins are heterodimeric transmembrane receptor proteins that mediate numerous cellular processes including cell adhesion, cytoskeletal rearrangement, and activation of cell signaling pathways. Integrins are composed of alpha and beta subunits. This gene encodes the alpha 8 subunit of the heterodimeric integrin alpha8beta1 protein. The encoded protein is a single-pass type 1 membrane protein that contains multiple FG-GAP repeats. This repeat is predicted to fold into a beta propeller structure. This gene regulates the recruitment of mesenchymal cells into epithelial structures, mediates cell-cell interactions, and regulates neurite outgrowth of sensory and motor neurons. The integrin alpha8beta1 protein thus plays an important role in wound-healing and organogenesis. Mutations in this gene have been associated with renal hypodysplasia/aplasia-1 (RHDA1) and with several animal models of chronic kidney disease. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2014] |
ITGA9 Geneintegrin, alpha 9 This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane glycoproteins composed of an alpha chain and a beta chain that mediate cell-cell and cell-matrix adhesion. The protein encoded by this gene, when bound to the beta 1 chain, forms an integrin that is a receptor for VCAM1, cytotactin and osteopontin. Expression of this gene has been found to be upregulated in small cell lung cancers. [provided by RefSeq, Jul 2008] |
ITGA1 Geneintegrin, alpha 1 This gene encodes the alpha 1 subunit of integrin receptors. This protein heterodimerizes with the beta 1 subunit to form a cell-surface receptor for collagen and laminin. The heterodimeric receptor is involved in cell-cell adhesion and may play a role in inflammation and fibrosis. The alpha 1 subunit contains an inserted (I) von Willebrand factor type I domain which is thought to be involved in collagen binding. [provided by RefSeq, Jul 2008] |
ITGA6 Geneintegrin, alpha 6 The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 6 subunit. This subunit may associate with a beta 1 or beta 4 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. The alpha 6 beta 4 integrin may promote tumorigenesis, while the alpha 6 beta 1 integrin may negatively regulate erbB2/HER2 signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] |
ITGA7 Geneintegrin, alpha 7 The protein encoded by this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. They mediate a wide spectrum of cell-cell and cell-matrix interactions, and thus play a role in cell migration, morphologic development, differentiation, and metastasis. This protein functions as a receptor for the basement membrane protein laminin-1. It is mainly expressed in skeletal and cardiac muscles and may be involved in differentiation and migration processes during myogenesis. Defects in this gene are associated with congenital myopathy. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Feb 2009] |
ITGAX Geneintegrin, alpha X (complement component 3 receptor 4 subunit) This gene encodes the integrin alpha X chain protein. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as inactivated-C3b (iC3b) receptor 4 (CR4). The alpha X beta 2 complex seems to overlap the properties of the alpha M beta 2 integrin in the adherence of neutrophils and monocytes to stimulated endothelium cells, and in the phagocytosis of complement coated particles. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013] |
ITGAV Geneintegrin, alpha V The product of this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha subunit and a beta subunit that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha V subunit. This subunit associates with beta 1, beta 3, beta 5, beta 6 and beta 8 subunits. The heterodimer consisting of alpha V and beta 3 subunits is also known as the vitronectin receptor. This integrin may regulate angiogenesis and cancer progression. Alternative splicing results in multiple transcript variants. Note that the integrin alpha 5 and integrin alpha V subunits are encoded by distinct genes. [provided by RefSeq, Oct 2015] |
ITGAM Geneintegrin, alpha M (complement component 3 receptor 3 subunit) This gene encodes the integrin alpha M chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as macrophage receptor 1 ('Mac-1'), or inactivated-C3b (iC3b) receptor 3 ('CR3'). The alpha M beta 2 integrin is important in the adherence of neutrophils and monocytes to stimulated endothelium, and also in the phagocytosis of complement coated particles. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] |
ITGAD Geneintegrin, alpha D This gene belongs to the beta-2 integrin family of membrane glycoproteins, which are are composed of non-covalently linked alpha and beta subunits to form a heterodimer. It encodes the alpha subunit of the cell surface heterodimers and is involved in the activation and adhesion functions of leukocytes. The gene is located about 11kb downstream of the integrin subunit alpha X gene, another member of the integrin family. It is expressed in the tissue and circulating myeloid leukocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] |
AAGAB Genealpha- and gamma-adaptin binding protein The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar keratoderma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012] |
PRKAR2A Geneprotein kinase, cAMP-dependent, regulatory, type II, alpha cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into 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 in humans. The protein encoded by this gene is one of the regulatory subunits. This subunit can be phosphorylated by the activated catalytic subunit. It may interact with various A-kinase anchoring proteins and determine the subcellular localization of cAMP-dependent protein kinase. This subunit has been shown to regulate protein transport from endosomes to the Golgi apparatus and further to the endoplasmic reticulum (ER). [provided by RefSeq, Jul 2008] |
ITGA2B Geneintegrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) This gene encodes a member of the integrin alpha chain family of proteins. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate through disulfide linkages to form a subunit of the alpha-IIb/beta-3 integrin cell adhesion receptor. This receptor plays a crucial role in the blood coagulation system, by mediating platelet aggregation. Mutations in this gene are associated with platelet-type bleeding disorders, which are characterized by a failure of platelet aggregation, including Glanzmann thrombasthenia. [provided by RefSeq, Jan 2016] |
LOC105378951 Genecollagen alpha-1(III) chain-like |
LOC101930347 Genecollagen alpha-2(I) chain-like |
NDUFA3P3 GeneNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3 pseudogene 3 |
CAMKK1 Genecalcium/calmodulin-dependent protein kinase kinase 1, alpha The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This protein plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade. Three transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] |
SEC61A1 GeneSec61 alpha 1 subunit (S. cerevisiae) The protein encoded by this gene belongs to the SECY/SEC61- alpha family. It appears to play a crucial role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. This protein found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins. This gene encodes an alpha subunit of the heteromeric SEC61 complex, which also contains beta and gamma subunits. [provided by RefSeq, Jul 2008] |
SEC61A2 GeneSec61 alpha 2 subunit (S. cerevisiae) The protein encoded by this gene has similarity to a mouse protein which suggests a role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. It may also be required for the assembly of membrane and secretory proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008] |
FCER1A GeneFc fragment of IgE, high affinity I, receptor for; alpha polypeptide The immunoglobulin epsilon receptor (IgE receptor) is the initiator of the allergic response. When two or more high-affinity IgE receptors are brought together by allergen-bound IgE molecules, mediators such as histamine that are responsible for allergy symptoms are released. This receptor is comprised of an alpha subunit, a beta subunit, and two gamma subunits. The protein encoded by this gene represents the alpha subunit. [provided by RefSeq, Aug 2011] |
SRD5A3 Genesteroid 5 alpha-reductase 3 The protein encoded by this gene belongs to the steroid 5-alpha reductase family, and polyprenol reductase subfamily. It is involved in the production of androgen 5-alpha-dihydrotestosterone (DHT) from testosterone, and maintenance of the androgen-androgen receptor activation pathway. This protein is also necessary for the conversion of polyprenol into dolichol, which is required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-linked glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type Iq. [provided by RefSeq, Mar 2011] |
COL14A1 Genecollagen, type XIV, alpha 1 This gene encodes the alpha chain of type XIV collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XIV collagen interacts with the fibril surface and is involved in the regulation of fibrillogenesis. [provided by RefSeq, Jan 2013] |
PPP3CA Geneprotein phosphatase 3, catalytic subunit, alpha isozyme Enables several functions, including ATPase binding activity; calmodulin binding activity; and calmodulin-dependent protein phosphatase activity. Involved in several processes, including calcineurin-NFAT signaling cascade; negative regulation of angiotensin-activated signaling pathway; and peptidyl-serine dephosphorylation. Located in cytoplasm; cytoplasmic side of plasma membrane; and dendritic spine. Part of calcineurin complex. Implicated in developmental and epileptic encephalopathy 91. Biomarker of cholangiocarcinoma; focal segmental glomerulosclerosis; and schizophrenia. [provided by Alliance of Genome Resources, Mar 2025] |
ADRA2A Geneadrenoceptor alpha 2A Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. The alpha-2-adrenergic receptors are a type of adrenergic receptors (for adrenaline or epinephrine), which inhibit adenylate cyclase. These receptors include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. They are involved in regulating the release of neurotransmitter molecules from sympathetic nerves and from adrenergic neurons in the central nervous system. The sympathetic nervous system regulates cardiovascular function by activating adrenergic receptors in the heart, blood vessels and kidney. Studies in mouse revealed that both the alpha2A and alpha2C receptor subtypes were required for presynaptic transmitter release from the sympathetic nervous system in the heart and from central noradrenergic neurons. The alpha-2-adrenergic receptors are also involved in catecholamine signaling by extracellular regulated protein kinase 1 and 2 (ERK1/2) pathways. A clear association between the alpha-2-adrenergic receptor and disease has not been yet established. [provided by RefSeq, Sep 2019] |
ADRA2B Geneadrenoceptor alpha 2B This intronless gene encodes a seven-pass transmembrane protein. This protein is a member of a subfamily of G protein-coupled receptors that regulate neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. [provided by RefSeq, Apr 2014] |
ADRA2C Geneadrenoceptor alpha 2C Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. The mouse studies revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic control of transmitter release from sympathetic nerves in the heart and from central noradrenergic neurons. The alpha2A subtype inhibited transmitter release at high stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission at lower levels of nerve activity. This gene encodes the alpha2C subtype, which contains no introns in either its coding or untranslated sequences. [provided by RefSeq, Jul 2008] |
ENO1 Geneenolase 1, (alpha) This gene encodes alpha-enolase, one of three enolase isoenzymes found in mammals. Each isoenzyme is a homodimer composed of 2 alpha, 2 gamma, or 2 beta subunits, and functions as a glycolytic enzyme. Alpha-enolase in addition, functions as a structural lens protein (tau-crystallin) in the monomeric form. Alternative splicing of this gene results in a shorter isoform that has been shown to bind to the c-myc promoter and function as a tumor suppressor. Several pseudogenes have been identified, including one on the long arm of chromosome 1. Alpha-enolase has also been identified as an autoantigen in Hashimoto encephalopathy. [provided by RefSeq, Jan 2011] |
LMX1A GeneLIM homeobox transcription factor 1, alpha This gene encodes a homeodomain and LIM-domain containing protein. The encoded protein is a transcription factor that acts as a positive regulator of insulin gene transcription. This gene also plays a role in the development of dopamine producing neurons during embryogenesis. Mutations in this gene are associated with an increased risk of developing Parkinson's disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] |
ANKS1B Geneankyrin repeat and sterile alpha motif domain containing 1B This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer's disease. Expression of this gene has been shown to be elevated in patients with pre-B cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript variants encoding different isoforms (some with different subcellular localization, PMID:15004329) have been described for this gene. [provided by RefSeq, Aug 2011] |
ANKS1A Geneankyrin repeat and sterile alpha motif domain containing 1A Predicted to enable ephrin receptor binding activity. Predicted to be involved in ephrin receptor signaling pathway; neuron remodeling; and substrate-dependent cell migration. Predicted to act upstream of or within negative regulation of ubiquitin-dependent protein catabolic process and regulation of ephrin receptor signaling pathway. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
LOC730222 Genetubulin, alpha 3d pseudogene |
ATP7A GeneATPase, Cu++ transporting, alpha polypeptide This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked distal spinal muscular atrophy, and occipital horn syndrome. Alternatively-spliced transcript variants have been observed. [provided by RefSeq, Aug 2013] |
SAMD4A Genesterile alpha motif domain containing 4A Sterile alpha motifs (SAMs) in proteins such as SAMD4A are part of an RNA-binding domain that functions as a posttranscriptional regulator by binding to an RNA sequence motif known as the Smaug recognition element, which was named after the Drosophila Smaug protein (Baez and Boccaccio, 2005 [PubMed 16221671]).[supplied by OMIM, Mar 2008] |
SAMD4B Genesterile alpha motif domain containing 4B Enables RNA binding activity. Predicted to be involved in nuclear-transcribed mRNA poly(A) tail shortening. Predicted to act upstream of or within cerebellar neuron development. Located in cytosol. [provided by Alliance of Genome Resources, Mar 2025] |
PCDHAC2 Geneprotocadherin alpha subfamily C, 2 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] |
PCDHAC1 Geneprotocadherin alpha subfamily C, 1 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] |
PCDHACT Geneprotocadherin alpha constant The genomic organization of the human protocadherin alpha, beta, and gamma gene clusters (PCDHA@, PCDHB@ and PCDHG@) is remarkably similar to that of immunoglobulin and T-cell receptor genes. The extracellular and transmembrane domains of each protocadherin protein are encoded by an unusually large `variable` region exon, while the intracellular domains are encoded by three small `constant` region exons located downstream from a tandem array of variable region exons. This locus represents the three exons comprising the constant region of the protocadherin alpha gene cluster. [provided by RefSeq, Jul 2008] |
MCCC1 Genemethylcrotonoyl-CoA carboxylase 1 (alpha) This gene encodes the large 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 in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq, Jul 2008] |
ACACA Geneacetyl-CoA carboxylase alpha Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. There are two ACC forms, alpha and beta, encoded by two different genes. ACC-alpha is highly enriched in lipogenic tissues. The enzyme is under long term control at the transcriptional and translational levels and under short term regulation by the phosphorylation/dephosphorylation of targeted serine residues and by allosteric transformation by citrate or palmitoyl-CoA. Multiple alternatively spliced transcript variants divergent in the 5' sequence and encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
LOC100129096 Genetropomyosin 1 (alpha) pseudogene |
REG1A Generegenerating islet-derived 1 alpha This gene is a type I subclass member of the Reg gene family. The Reg gene family is a multigene family grouped into four subclasses, types I, II, III and IV, based on the primary structures of the encoded proteins. This gene encodes a protein that is secreted by the exocrine pancreas. It is associated with islet cell regeneration and diabetogenesis and may be involved in pancreatic lithogenesis. Reg family members REG1B, 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] |
DAGLA Genediacylglycerol lipase, alpha This gene encodes a diacylglycerol lipase. The encoded enzyme is involved in the biosynthesis of the endocannabinoid 2-arachidonoyl-glycerol.[provided by RefSeq, Nov 2010] |
CSNK1A1L Genecasein kinase 1, alpha 1-like Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in negative regulation of canonical Wnt signaling pathway and signal transduction. Located in cytosol. [provided by Alliance of Genome Resources, Mar 2025] |
LOC731755 Geneeukaryotic translation initiation factor 2-alpha kinase 1 pseudogene |
ACTN3 Geneactinin, alpha 3 (gene/pseudogene) This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the coding allele. The non-functional allele of this gene is associated with elite athlete status. [provided by RefSeq, Apr 2024] |
ACTN2 Geneactinin, alpha 2 Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013] |
ACTN1 Geneactinin, alpha 1 Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
ACTN4 Geneactinin, alpha 4 Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, alpha actinin isoform which is concentrated in the cytoplasm, and thought to be involved in metastatic processes. Mutations in this gene have been associated with focal and segmental glomerulosclerosis. [provided by RefSeq, Jul 2008] |
LOC340268 GeneC3 and PZP-like, alpha-2-macroglobulin domain containing 8 pseudogene |
SPTA1 Genespectrin, alpha, erythrocytic 1 This gene encodes a member of a family of molecular scaffold proteins that link the plasma membrane to the actin cytoskeleton and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms a component of the erythrocyte plasma membrane. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis-2, pyropoikilocytosis, and spherocytosis, type 3. [provided by RefSeq, Aug 2017] |
HGSNAT Geneheparan-alpha-glucosaminide N-acetyltransferase This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq, Jan 2009] |
PPFIA4 Geneprotein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 PPFIA4, or liprin-alpha-4, belongs to the liprin-alpha gene family. See liprin-alpha-1 (LIP1, or PPFIA1; MIM 611054) for background on liprins.[supplied by OMIM, Mar 2008] |
ALG8 GeneALG8, alpha-1,3-glucosyltransferase This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] |
ALG2 GeneALG2, alpha-1,3/1,6-mannosyltransferase This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ii). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008] |
ALG3 GeneALG3, alpha-1,3- mannosyltransferase This gene encodes a member of the ALG3 family. The encoded protein catalyses the addition of the first dol-P-Man derived mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in this gene have been associated with congenital disorder of glycosylation type Id (CDG-Id) characterized by abnormal N-glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] |
ALG6 GeneALG6, alpha-1,3-glucosyltransferase This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated with congenital disorders of glycosylation type Ic. [provided by RefSeq, Jul 2008] |
LOC100421817 Geneeukaryotic translation elongation factor 1 alpha 2 pseudogene |
NDUFA3P1 GeneNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3 pseudogene 1 |
ESRRAP2 Geneestrogen-related receptor alpha pseudogene 2 |
ESRRAP1 Geneestrogen-related receptor alpha pseudogene 1 |
TUBA1C Genetubulin, alpha 1c Predicted to enable GTP binding activity. Predicted to be a structural constituent of cytoskeleton. Predicted to be involved in microtubule cytoskeleton organization and mitotic cell cycle. Located in microtubule cytoskeleton and nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
TUBA1B Genetubulin, alpha 1b Enables several functions, including GTP binding activity; GTPase activity; and ubiquitin protein ligase binding activity. A structural constituent of cytoskeleton. Involved in microtubule cytoskeleton organization. Located in microtubule. Is active in microtubule cytoskeleton. [provided by Alliance of Genome Resources, Mar 2025] |
TUBA1A Genetubulin, alpha 1a Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulins. The genes encoding these microtubule constituents belong to the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes, which are highly conserved among species. This gene encodes alpha tubulin and is highly similar to the mouse and rat Tuba1 genes. Northern blot studies have shown that the gene expression is predominantly found in morphologically differentiated neurologic cells. This gene is one of three alpha-tubulin genes in a cluster on chromosome 12q. Mutations in this gene cause lissencephaly type 3 (LIS3) - a neurological condition characterized by microcephaly, intellectual disability, and early-onset epilepsy caused by defective neuronal migration. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017] |
LOC105369637 Genecollagen alpha-1(I) chain-like |
HSP90AA3P Geneheat shock protein 90kDa alpha (cytosolic), class A member 3, pseudogene |
EEF1A1 Geneeukaryotic translation elongation factor 1 alpha 1 This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas, and the other isoform (alpha 2) is expressed in brain, heart and skeletal muscle. This isoform is identified as an autoantigen in 66% of patients with Felty syndrome. This gene has been found to have multiple copies on many chromosomes, some of which, if not all, represent different pseudogenes. [provided by RefSeq, Jul 2008] |
EEF1A2 Geneeukaryotic translation elongation factor 1 alpha 2 This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 2) is expressed in brain, heart and skeletal muscle, and the other isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas. This gene may be critical in the development of ovarian cancer. [provided by RefSeq, Mar 2014] |
NFYA Genenuclear transcription factor Y, alpha The protein encoded by this gene is one subunit of a trimeric complex, forming a highly conserved transcription factor that binds to CCAAT motifs in the promoter regions in a variety of genes. Subunit A associates with a tight dimer composed of the B and C subunits, resulting in a trimer that binds to DNA with high specificity and affinity. The sequence specific interactions of the complex are made by the A subunit, suggesting a role as the regulatory subunit. In addition, there is evidence of post-transcriptional regulation in this gene product, either by protein degradation or control of translation. Further regulation is represented by alternative splicing in the glutamine-rich activation domain, with clear tissue-specific preferences for the two isoforms. [provided by RefSeq, Jul 2008] |
GPHA2 Geneglycoprotein hormone alpha 2 GPHA2 is a cystine knot-forming polypeptide and a subunit of the dimeric glycoprotein hormone family (Hsu et al., 2002 [PubMed 12089349]).[supplied by OMIM, Mar 2008] |
PAM Genepeptidylglycine alpha-amidating monooxygenase This gene encodes a multifunctional protein. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme includes two domains with distinct catalytic activities, a peptidylglycine alpha-hydroxylating monooxygenase (PHM) domain and a peptidyl-alpha-hydroxyglycine alpha-amidating lyase (PAL) domain. These catalytic domains work sequentially to catalyze the conversion of neuroendocrine peptides to active alpha-amidated products. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016] |
THRA Genethyroid hormone receptor, alpha The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] |
PDHA2 Genepyruvate dehydrogenase (lipoamide) alpha 2 Enables pyruvate dehydrogenase (NAD+) activity and pyruvate dehydrogenase (acetyl-transferring) activity. Involved in pyruvate metabolic process. Located in mitochondrion and nucleolus. Implicated in spermatogenic failure 70. [provided by Alliance of Genome Resources, Mar 2025] |
PDHA1 Genepyruvate dehydrogenase (lipoamide) alpha 1 The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and provides the primary link 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 beta subunits. This gene encodes the E1 alpha 1 subunit containing the E1 active site, and plays a key role in the function of the PDH complex. Mutations in this gene are associated with pyruvate dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010] |
EEF1A1P19 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 19 |
EEF1A1P18 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 18 |
EEF1A1P10 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 10 |
EEF1A1P15 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 15 |
LOC105370705 Genecollagen alpha-2(I) chain-like |
COL27A1 Genecollagen, type XXVII, alpha 1 This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014] |
DEFA1B Genedefensin, alpha 1B Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. The protein encoded by this gene, defensin, alpha 1, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. Several alpha defensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 3 by only one amino acid. This gene and the gene encoding defensin, alpha 3 are both subject to copy number variation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014] |
SCN1A Genesodium channel, voltage gated, type I alpha subunit Voltage-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action potentials in muscle cells and neurons. Each sodium channel is composed of a large pore-forming, glycosylated alpha subunit and two smaller beta subunits. This gene encodes a sodium channel alpha subunit, which has four homologous domains, each of which contains six transmembrane regions. Allelic variants of this gene are associated with generalized epilepsy with febrile seizures and epileptic encephalopathy. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript. [provided by RefSeq, Oct 2015] |
EEF1A1P35 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 35 |
EEF1A1P31 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 31 |
EEF1A1P33 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 33 |
EEF1A1P39 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 39 |
EEF1A1P38 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 38 |
LOC644661 Geneimportin subunit alpha-1 pseudogene |
LOC101060328 Genecollagen alpha-1(I) chain-like |
NACA Genenascent polypeptide-associated complex alpha subunit This gene encodes a protein that associates with basic transcription factor 3 (BTF3) to form the nascent polypeptide-associated complex (NAC). This complex binds to nascent proteins that lack a signal peptide motif as they emerge from the ribosome, blocking interaction with the signal recognition particle (SRP) and preventing mistranslocation to the endoplasmic reticulum. This protein is an IgE autoantigen in atopic dermatitis patients. Alternative splicing results in multiple transcript variants, but the full length nature of some of these variants, including those encoding very large proteins, has not been determined. There are multiple pseudogenes of this gene on different chromosomes. [provided by RefSeq, Feb 2016] |
SIRPAP1 Genesignal-regulatory protein alpha pseudogene 1 |
SI Genesucrase-isomaltase (alpha-glucosidase) This gene encodes a sucrase-isomaltase enzyme that is expressed in the intestinal brush border. The encoded protein is synthesized as a precursor protein that is cleaved by pancreatic proteases into two enzymatic subunits sucrase and isomaltase. These two subunits heterodimerize to form the sucrose-isomaltase complex. This complex is essential for the digestion of dietary carbohydrates including starch, sucrose and isomaltose. Mutations in this gene are the cause of congenital sucrase-isomaltase deficiency.[provided by RefSeq, Apr 2010] |
IFNA21 Geneinterferon, alpha 21 This gene is a member of the alpha interferon gene cluster on the short arm of chromosome 9. Interferons are cytokines produced in response to viral infection that mediate the immune response and interfere with viral replication. The encoded protein is a type I interferon and may play a specific role in the antiviral response to rubella virus. [provided by RefSeq, Sep 2011] |
DEFA4 Genedefensin, alpha 4, corticostatin Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes are clustered on chromosome 8. This gene differs from other genes of this family by an extra 83-base segment that is apparently the result of a recent duplication within the coding region. The protein encoded by this gene, defensin, alpha 4, is found in the neutrophils; it exhibits corticostatic activity and inhibits corticotropin stimulated corticosterone production. [provided by RefSeq, Oct 2014] |
DEFA3 Genedefensin, alpha 3, neutrophil-specific Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. The protein encoded by this gene, defensin, alpha 3, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. Several alpha defensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 1 by only one amino acid. This gene and the gene encoding defensin, alpha 1 are both subject to copy number variation. [provided by RefSeq, Oct 2014] |
DEFA1 Genedefensin, alpha 1 Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. The protein encoded by this gene, defensin, alpha 1, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. Several alpha defensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 3 by only one amino acid. This gene and the gene encoding defensin, alpha 3 are both subject to copy number variation. [provided by RefSeq, Oct 2014] |
GSTA4 Geneglutathione S-transferase alpha 4 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class. The alpha class genes, which are located in a cluster on chromosome 6, are highly related and encode enzymes with glutathione peroxidase activity that function in the detoxification of lipid peroxidation products. Reactive electrophiles produced by oxidative metabolism have been linked to a number of degenerative diseases including Parkinson's disease, Alzheimer's disease, cataract formation, and atherosclerosis. [provided by RefSeq, Jul 2008] |
GSTA5 Geneglutathione S-transferase alpha 5 The glutathione S-transferases (GST; EC 2.5.1.18) catalyze the conjugation of reduced glutathiones and a variety of electrophiles, including many known carcinogens and mutagens. The cytosolic GSTs belong to a large superfamily, with members located on different chromosomes. For additional information on GSTs, see GSTA1 (MIM 138359).[supplied by OMIM, Sep 2008] |
GSTA1 Geneglutathione S-transferase alpha 1 This gene encodes a member of a family of enzymes that function to add glutathione to target electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins, and products of oxidative stress. This action is an important step in detoxification of these compounds. This subfamily of enzymes has a particular role in protecting cells from reactive oxygen species and the products of peroxidation. Polymorphisms in this gene influence the ability of individuals to metabolize different drugs. This gene is located in a cluster of similar genes and pseudogenes on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] |
GSTA2 Geneglutathione S-transferase alpha 2 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes function in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding these enzymes are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of some drugs. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class. The alpha class genes, located in a cluster mapped to chromosome 6, are the most abundantly expressed glutathione S-transferases in liver. In addition to metabolizing bilirubin and certain anti-cancer drugs in the liver, the alpha class of these enzymes exhibit glutathione peroxidase activity thereby protecting the cells from reactive oxygen species and the products of peroxidation. [provided by RefSeq, Jul 2008] |
GSTA3 Geneglutathione S-transferase alpha 3 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class genes that are located in a cluster mapped to chromosome 6. Genes of the alpha class are highly related and encode enzymes with glutathione peroxidase activity. However, during evolution, this alpha class gene diverged accumulating mutations in the active site that resulted in differences in substrate specificity and catalytic activity. The enzyme encoded by this gene catalyzes the double bond isomerization of precursors for progesterone and testosterone during the biosynthesis of steroid hormones. An additional transcript variant has been identified, but its full length sequence has not been determined. [provided by RefSeq, Jul 2008] |
PROS1 Geneprotein S (alpha) This gene encodes a vitamin K-dependent plasma protein that functions as a cofactor for the anticoagulant protease, activated protein C (APC) to inhibit blood coagulation. It is found in plasma in both a free, functionally active form and also in an inactive form complexed with C4b-binding protein. Mutations in this gene result in autosomal dominant hereditary thrombophilia. An inactive pseudogene of this locus is located at an adjacent region on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Oct 2015] |
LOC644436 Genetubulin, alpha 4a pseudogene |
GFRAL GeneGDNF family receptor alpha like Enables glial cell-derived neurotrophic factor receptor activity and receptor tyrosine kinase binding activity. Involved in GDF15-GFRAL signaling pathway; positive regulation of MAPK cascade; and positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction. Located in several cellular components, including actin cytoskeleton; focal adhesion; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
LOC100421126 Genesucrase-isomaltase (alpha-glucosidase) pseudogene |
SCNN1A Genesodium channel, non voltage gated 1 alpha subunit Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2009] |
LOC100422479 Geneintegrin, alpha X (complement component 3 receptor 4 subunit) pseudogene |
NAA50 GeneN(alpha)-acetyltransferase 50, NatE catalytic subunit Enables histone H4 acetyltransferase activity and peptide alpha-N-acetyltransferase activity. Involved in N-terminal protein amino acid acetylation; establishment of mitotic sister chromatid cohesion; and mitotic sister chromatid cohesion, centromeric. Located in cytosol and nucleolus. Part of NatA complex. [provided by Alliance of Genome Resources, Mar 2025] |
COL9A2 Genecollagen, type IX, alpha 2 This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. This chain is unusual in that, unlike the other two type IX alpha chains, it contains a covalently attached glycosaminoglycan side chain. Mutations in this gene are associated with multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008] |
COL9A3 Genecollagen, type IX, alpha 3 This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. Mutations in this gene are associated with multiple epiphyseal dysplasia type 3. [provided by RefSeq, Jan 2010] |
COL9A1 Genecollagen, type IX, alpha 1 This gene encodes one of the three alpha chains of type IX collagen, which is a minor (5-20%) collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene are associated with osteoarthritis in humans, with multiple epiphyseal dysplasia, 6, a form of chondrodysplasia, and with Stickler syndrome, a disease characterized by ophthalmic, orofacial, articular, and auditory defects. Two transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] |
HBHR Genealpha-thalassemia/mental retardation syndrome, type 1 |
LOC100420255 Genecollagen, type XXII, alpha 1 pseudogene |
DEFA9P Genedefensin, alpha 9 pseudogene |
MAT1A Genemethionine adenosyltransferase I, alpha This gene catalyzes a two-step reaction that involves the transfer of the adenosyl moiety of ATP to methionine to form S-adenosylmethionine and tripolyphosphate, which is subsequently cleaved to PPi and Pi. S-adenosylmethionine is the source of methyl groups for most biological methylations. The encoded protein is found as a homotetramer (MAT I) or a homodimer (MAT III) whereas a third form, MAT II (gamma), is encoded by the MAT2A gene. Mutations in this gene are associated with methionine adenosyltransferase deficiency. [provided by RefSeq, Jul 2008] |
FGA Genefibrinogen alpha chain This gene encodes the alpha subunit of the coagulation factor fibrinogen, which is a component of the blood clot. Following vascular injury, the encoded preproprotein is proteolytically processed by thrombin during the conversion of fibrinogen to fibrin. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia, afibrinogenemia and renal amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that undergoes proteolytic processing. [provided by RefSeq, Jan 2016] |
ZAK Genesterile alpha motif and leucine zipper containing kinase AZK This gene is a member of the MAPKKK family of signal transduction molecules and encodes a protein with an N-terminal kinase catalytic domain, followed by a leucine zipper motif and a sterile-alpha motif (SAM). This magnesium-binding protein forms homodimers and is located in the cytoplasm. The protein mediates gamma radiation signaling leading to cell cycle arrest and activity of this protein plays a role in cell cycle checkpoint regulation in cells. The protein also has pro-apoptotic activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] |
SNCAIP Genesynuclein, alpha interacting protein This gene encodes a protein containing several protein-protein interaction domains, including ankyrin-like repeats, a coiled-coil domain, and an ATP/GTP-binding motif. The encoded protein interacts with alpha-synuclein in neuronal tissue and may play a role in the formation of cytoplasmic inclusions and neurodegeneration. A mutation in this gene has been associated with Parkinson's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015] |
SCN9A Genesodium channel, voltage gated, type IX alpha subunit This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain disorder. [provided by RefSeq, Aug 2009] |
EEF1A1P9 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 9 |
EEF1A1P8 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 8 |
EEF1A1P7 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 7 |
EEF1A1P6 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 6 |
EEF1A1P5 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 5 Predicted to enable GTPase activity and translation elongation factor activity. Predicted to be involved in translational elongation. Located in extracellular exosome and nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
EEF1A1P4 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 4 |
EEF1A1P3 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 3 |
EEF1A1P2 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 2 |
EEF1A1P1 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 1 |
GADD45A Genegrowth arrest and DNA-damage-inducible, alpha This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The DNA damage-induced transcription of this gene is mediated by both p53-dependent and -independent mechanisms. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Dec 2010] |
ITGA10 Geneintegrin, alpha 10 Integrins are integral transmembrane glycoproteins composed of noncovalently linked alpha and beta chains. They participate in cell adhesion as well as cell-surface mediated signalling. This gene encodes an integrin alpha chain and is expressed at high levels in chondrocytes, where it is transcriptionally regulated by AP-2epsilon and Ets-1. The protein encoded by this gene binds to collagen. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] |
ITGA11 Geneintegrin, alpha 11 This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein contains an I domain, is expressed in muscle tissue, dimerizes with beta 1 integrin in vitro, and appears to bind collagen in this form. Therefore, the protein may be involved in attaching muscle tissue to the extracellular matrix. Alternative transcriptional splice variants have been found for this gene, but their biological validity is not determined. [provided by RefSeq, Jul 2008] |
HLA-DOA Genemajor histocompatibility complex, class II, DO alpha HLA-DOA belongs to the HLA class II alpha chain paralogues. HLA-DOA forms a heterodimer with HLA-DOB. The heterodimer, HLA-DO, is found in lysosomes in B cells and regulates HLA-DM-mediated peptide loading on MHC class II molecules. In comparison with classical HLA class II molecules, this gene exhibits very little sequence variation, especially at the protein level. [provided by RefSeq, Jul 2008] |
C8A Genecomplement component 8, alpha polypeptide C8 is a component of the complement system and contains three polypeptides, alpha, beta and gamma. This gene encodes the alpha subunit of C8. C8 participates in the formation of the membrane attack complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause complement C8 alpha-gamma deficiency. [provided by RefSeq, Nov 2008] |
HLA-DQA1 Genemajor histocompatibility complex, class II, DQ alpha 1 HLA-DQA1 belongs to the HLA class II alpha chain paralogues. The class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B Lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa. It is encoded by 5 exons; exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. [provided by RefSeq, Jul 2008] |
HLA-DQA2 Genemajor histocompatibility complex, class II, DQ alpha 2 This gene belongs to the HLA class II alpha chain family. The encoded protein forms a heterodimer with a class II beta chain. It is located in intracellular vesicles and plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (B lymphocytes, dendritic cells, macrophages) and are used to present antigenic peptides on the cell surface to be recognized by CD4 T-cells. [provided by RefSeq, Jun 2010] |
SAMD5 Genesterile alpha motif domain containing 5 Predicted to be involved in regulation of intracellular signal transduction. Located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
SAMD7 Genesterile alpha motif domain containing 7 Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific; chromatin binding activity; and histone binding activity. Predicted to be involved in negative regulation of DNA-templated transcription; negative regulation of gene expression, epigenetic; and retinal rod cell development. Predicted to be located in cytoplasm. Predicted to be part of PRC1 complex. Predicted to be active in nucleus. Implicated in macular degeneration. [provided by Alliance of Genome Resources, Mar 2025] |
SAMD1 Genesterile alpha motif domain containing 1 Enables chromatin binding activity. Involved in negative regulation of transcription initiation-coupled chromatin remodeling and protein homooligomerization. Is active in nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
SAMD3 Genesterile alpha motif domain containing 3 |
SAMD8 Genesterile alpha motif domain containing 8 Predicted to enable ceramide cholinephosphotransferase activity and sphingomyelin synthase activity. Involved in ceramide biosynthetic process and regulation of ceramide biosynthetic process. Located in cytosol and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Mar 2025] |
SAMD9 Genesterile alpha motif domain containing 9 This gene encodes a sterile alpha motif domain-containing protein. The encoded protein localizes to the cytoplasm and may play a role in regulating cell proliferation and apoptosis. Mutations in this gene are the cause of normophosphatemic familial tumoral calcinosis. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Jul 2010] |
CHRNA4 Genecholinergic receptor, nicotinic, alpha 4 (neuronal) This gene encodes a nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels that play a role in fast signal transmission at synapses. These pentameric receptors can bind acetylcholine, which causes an extensive change in conformation that leads to the opening of an ion-conducting channel across the plasma membrane. This protein is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor. Mutations in this gene cause nocturnal frontal lobe epilepsy type 1. Polymorphisms in this gene that provide protection against nicotine addiction have been described. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] |
CHRNA5 Genecholinergic receptor, nicotinic, alpha 5 (neuronal) The protein encoded by this gene is a nicotinic acetylcholine receptor subunit and a member of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. These receptors are thought to be heteropentamers composed of separate but similar subunits. Defects in this gene have been linked to susceptibility to lung cancer type 2 (LNCR2).[provided by RefSeq, Jun 2010] |
CHRNA6 Genecholinergic receptor, nicotinic, alpha 6 (neuronal) This gene encodes an alpha subunit of neuronal nicotinic acetylcholine receptors. These receptors consist of five subunits and function as ion channels involved in neurotransmission. The encoded protein is a subunit of neuronal nicotinic acetylcholine receptors that mediate dopaminergic neurotransmission and are activated by acetylcholine and exogenous nicotine. Alternatively spliced transcript variants have been observed for this gene. Single nucleotide polymorphisms in this gene have been associated with both nicotine and alcohol dependence. [provided by RefSeq, Dec 2010] |
CHRNA7 Genecholinergic receptor, nicotinic, alpha 7 (neuronal) The nicotinic acetylcholine receptors (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-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. The protein encoded by this gene forms a homo-oligomeric channel, displays marked permeability to calcium ions and is a major component of brain nicotinic receptors that are blocked by, and highly sensitive to, alpha-bungarotoxin. Once this receptor binds acetylcholine, it undergoes an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. This gene is located in a region identified as a major susceptibility locus for juvenile myoclonic epilepsy and a chromosomal location involved in the genetic transmission of schizophrenia. An evolutionarily recent partial duplication event in this region results in a hybrid containing sequence from this gene and a novel FAM7A gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] |
CHRNA1 Genecholinergic receptor, nicotinic, alpha 1 (muscle) The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the beta, gamma, and delta subunits. This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2012] |
CHRNA2 Genecholinergic receptor, nicotinic, alpha 2 (neuronal) Nicotinic acetylcholine receptors (nAChRs) are ligand-gated ion channels formed by a pentameric arrangement of alpha and beta subunits to create distinct muscle and neuronal receptors. Neuronal receptors are found throughout the peripheral and central nervous system where they are involved in fast synaptic transmission. This gene encodes an alpha subunit that is widely expressed in the brain. The proposed structure for nAChR subunits is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. Mutations in this gene cause autosomal dominant nocturnal frontal lobe epilepsy type 4. Single nucleotide polymorphisms (SNPs) in this gene have been associated with nicotine dependence. [provided by RefSeq, Nov 2009] |
CHRNA3 Genecholinergic receptor, nicotinic, alpha 3 (neuronal) This locus encodes a member of the nicotinic acetylcholine receptor family of proteins. Members of this family of proteins form pentameric complexes comprised of both alpha and beta subunits. This locus encodes an alpha-type subunit, as it contains characteristic adjacent cysteine residues. The encoded protein is a ligand-gated ion channel that likely plays a role in neurotransmission. Polymorphisms in this gene have been associated with an increased risk of smoking initiation and an increased susceptibility to lung cancer. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009] |
CHRNA9 Genecholinergic receptor, nicotinic, alpha 9 (neuronal) This gene is a member of the ligand-gated ionic channel family and nicotinic acetylcholine receptor gene superfamily. It encodes a plasma membrane protein that forms homo- or hetero-oligomeric divalent cation channels. This protein is involved in cochlea hair cell development and is also expressed in the outer hair cells (OHCs) of the adult cochlea. [provided by RefSeq, Feb 2012] |
SIRPA Genesignal-regulatory protein alpha The protein encoded by this gene is a member of the signal-regulatory-protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. This protein can be phosphorylated by tyrosine kinases. The phospho-tyrosine residues of this PTP have been shown to recruit SH2 domain containing tyrosine phosphatases (PTP), and serve as substrates of PTPs. This protein was found to participate in signal transduction mediated by various growth factor receptors. CD47 has been demonstrated to be a ligand for this receptor protein. This gene and its product share very high similarity with several other members of the SIRP family. These related genes are located in close proximity to each other on chromosome 20p13. Multiple alternatively spliced transcript variants have been determined for this gene. [provided by RefSeq, Jul 2008] |
IL3RA Geneinterleukin 3 receptor, alpha (low affinity) The protein encoded by this gene is an interleukin 3 specific subunit of a heterodimeric cytokine receptor. The receptor is comprised of a ligand specific alpha subunit and a signal transducing beta subunit shared by the receptors for interleukin 3 (IL3), colony stimulating factor 2 (CSF2/GM-CSF), and interleukin 5 (IL5). The binding of this protein to IL3 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL3. This gene and the gene encoding the colony stimulating factor 2 receptor alpha chain (CSF2RA) form a cytokine receptor gene cluster in a X-Y pseudoautosomal region on chromosomes X or Y. Alternatively spliced transcript variants encoding distinct isoforms have been found. [provided by RefSeq, Jun 2012] |
ALG3P1 GeneALG3, alpha-1,3- mannosyltransferase pseudogene 1 |
DEFA11P Genedefensin, alpha 11 pseudogene |
LOC105376747 Genecollagen alpha-3(IX) chain-like |
FNTAP2 Genefarnesyltransferase, CAAX box, alpha pseudogene 2 |
PSMA2P3 Geneproteasome (prosome, macropain) subunit, alpha type, 2 pseudogene 3 |
PSMA2P1 Geneproteasome (prosome, macropain) subunit, alpha type, 2 pseudogene 1 |
LOC642890 GeneN(alpha)-acetyltransferase 50, NatE catalytic subunit pseudogene |
PCDHA10 Geneprotocadherin alpha 10 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] |
PCDHA11 Geneprotocadherin alpha 11 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] |
PCDHA12 Geneprotocadherin alpha 12 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] |
PCDHA13 Geneprotocadherin alpha 13 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] |
PCDHA14 Geneprotocadherin alpha 14 pseudogene |
LOC100884169 GeneNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 pseudogene |
COL1AR Genecollagen, type I, alpha, receptor |
COL1A2 Genecollagen, type I, alpha 2 This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008] |
MEP1AP4 Genemeprin A, alpha pseudogene 4 |
MEP1AP3 Genemeprin A, alpha pseudogene 3 |
MEP1AP2 Genemeprin A, alpha pseudogene 2 |
MEP1AP1 Genemeprin A, alpha pseudogene 1 |
LOC101929990 Genecollagen alpha-1(XXVII) chain-like |
COL6A1 Genecollagen, type VI, alpha 1 The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008] |
COL6A2 Genecollagen, type VI, alpha 2 This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008] |
COL6A5 Genecollagen, type VI, alpha 5 This gene encodes a member of the collagen superfamily of proteins. The encoded protein contains multiple von Willebrand factor A-like domains and may interact with the alpha 1 and alpha 2 chains of collagen VI to form the complete collagen VI trimer. Polymorphisms in this gene may be linked to dermal phenotypes, such as eczema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] |
ANKS4B Geneankyrin repeat and sterile alpha motif domain containing 4B Involved in brush border assembly; protein localization to microvillus; and protein-containing complex assembly. Located in brush border and microvillus. [provided by Alliance of Genome Resources, Mar 2025] |
CHKA Genecholine kinase alpha The major pathway for the biosynthesis of phosphatidylcholine occurs via the CDP-choline pathway. The protein encoded by this gene is the initial enzyme in the sequence and may play a regulatory role. The encoded protein also catalyzes the phosphorylation of ethanolamine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
LOC105377621 Genecollagen alpha-2(I) chain-like |
CAPZA3 Genecapping protein (actin filament) muscle Z-line, alpha 3 This gene encodes an actin capping protein, one of the F-actin capping protein alpha subunit family. The encoded protein is predominantly localized to the neck region of ejaculated sperm, other immunohistochemical signals were found in the tail and postacrosomal regions. The encoded protein may also form heterodimers of alpha and beta subunits. This protein may be important in determining sperm architecture and male fertility. [provided by RefSeq, Jul 2008] |
CAPZA2 Genecapping protein (actin filament) muscle Z-line, alpha 2 The protein encoded by this gene is a member of the F-actin capping protein alpha subunit family. It is the alpha subunit of the barbed-end actin binding protein Cap Z. By capping the barbed end of actin filaments, Cap Z regulates the growth of the actin filaments at the barbed end. [provided by RefSeq, Jul 2008] |
CAPZA1 Genecapping protein (actin filament) muscle Z-line, alpha 1 CAPZA1 is a member of the F-actin capping protein alpha subunit family. This gene encodes the alpha subunit of the barbed-end actin binding protein. The protein regulates growth of the actin filament by capping the barbed end of growing actin filaments. [provided by RefSeq, Jul 2008] |
LOC105379509 Genefibril-forming collagen alpha chain-like |
LOC102724652 Genealpha-crystallin A chain |
COL17A1 Genecollagen, type XVII, alpha 1 This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form. [provided by RefSeq, Jul 2008] |
LOC105373619 Genecollagen alpha-1(XI) chain-like |
IL1A Geneinterleukin 1, alpha The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is a pleiotropic cytokine involved in various immune responses, inflammatory processes, and hematopoiesis. This cytokine is produced by monocytes and macrophages as a proprotein, which is proteolytically processed and released in response to cell injury, and thus induces apoptosis. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. It has been suggested that the polymorphism of these genes is associated with rheumatoid arthritis and Alzheimer's disease. [provided by RefSeq, Jul 2008] |
KCNN4 Genepotassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4 The protein encoded by this gene is part of a potentially heterotetrameric voltage-independent potassium channel that is activated by intracellular calcium. Activation is followed by membrane hyperpolarization, which promotes calcium influx. The encoded protein may be part of the predominant calcium-activated potassium channel in T-lymphocytes. This gene is similar to other KCNN family potassium channel genes, but it differs enough to possibly be considered as part of a new subfamily. [provided by RefSeq, Jul 2008] |
KCNN3 Genepotassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 3 Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. This gene belongs to the KCNN family of potassium channels. It encodes an integral membrane protein that forms a voltage-independent calcium-activated channel, which is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene contains two CAG repeat regions in the coding sequence. It was thought that expansion of one or both of these repeats could lead to an increased susceptibility to schizophrenia or bipolar disorder, but studies indicate that this is probably not the case. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011] |
KCNN2 Genepotassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 2 Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene is a member of the KCNN family of potassium channel genes. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013] |
KCNN1 Genepotassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 1 Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. This gene is a member of the KCNN family of potassium channel genes. [provided by RefSeq, Jul 2008] |
PKIA Geneprotein kinase (cAMP-dependent, catalytic) inhibitor alpha The protein encoded by this gene is a member of the cAMP-dependent protein kinase (PKA) inhibitor family. This protein was demonstrated to interact with and inhibit the activities of both C alpha and C beta catalytic subunits of the PKA. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008] |
SERPINA2 Geneserpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 2 (gene/pseudogene) This gene encodes a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. The encoded intracellular glycoprotein is localized at the endoplasmic reticulum. This gene is a polymorphic pseudogene, with the non-functional allele being predominant in some populations. Some individuals, as represented by the reference genome allele, contain a 2kb coding region deletion and a start code mutation. [provided by RefSeq, Feb 2014] |
SERPINA3 Geneserpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 The protein encoded by this gene is a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. This gene is one in a cluster of serpin genes located on the q arm of chromosome 14. Polymorphisms in this protein appear to be tissue specific and influence protease targeting. Variations in this protein's sequence have been implicated in Alzheimer's disease, and deficiency of this protein has been associated with liver disease. Mutations have been identified in patients with Parkinson disease and chronic obstructive pulmonary disease. [provided by RefSeq, Jun 2020] |
SERPINA4 Geneserpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 Predicted to enable serine-type endopeptidase inhibitor activity. Located in extracellular exosome. Biomarker of diabetic retinopathy. [provided by Alliance of Genome Resources, Mar 2025] |
SERPINA5 Geneserpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 The protein encoded by this gene is a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. This gene is one in a cluster of serpin genes located on the q arm of chromosome 14. This family member is a glycoprotein that can inhibit several serine proteases, including protein C and various plasminogen activators and kallikreins, and it thus plays diverse roles in hemostasis and thrombosis in multiple organs. [provided by RefSeq, Aug 2012] |
SERPINA6 Geneserpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 This gene encodes an alpha-globulin protein with corticosteroid-binding properties. This is the major transport protein for glucorticoids and progestins in the blood of most vertebrates. The gene localizes to a chromosomal region containing several closely related serine protease inhibitors which may have evolved by duplication events. [provided by RefSeq, Jul 2008] |
SERPINA9 Geneserpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 Enables serine-type endopeptidase inhibitor activity. Predicted to be located in cytoplasm; extracellular region; and membrane. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025] |
LOC100129052 GeneN(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae) pseudogene |
PMPCAP1 Genepeptidase (mitochondrial processing) alpha pseudogene 1 |
PSMA2P2 Geneproteasome (prosome, macropain) subunit, alpha type, 2 pseudogene 2 |
ATRX Genealpha thalassemia/mental retardation syndrome X-linked The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Mutations in this gene are associated with X-linked syndromes exhibiting cognitive disabilities as well as alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2017] |
GSTA12P Geneglutathione S-transferase alpha 12, pseudogene |
AMYP1 Geneamylase, alpha pseudogene 1 |
GSTA8P Geneglutathione S-transferase alpha 8, pseudogene |
LOC101059944 Genecollagen alpha-1(III) chain-like |
LOC646197 Geneheat shock protein 90kDa alpha (cytosolic), class B member 1 pseudogene |
SARM1 Genesterile alpha and TIR motif containing 1 Enables NAD+ nucleosidase activity; NAD+ nucleotidase, cyclic ADP-ribose generating; and identical protein binding activity. Involved in NAD catabolic process and response to axon injury. Is active in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025] |
SSR1 Genesignal sequence receptor, alpha The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotein encoded by this gene and a 22-kD glycoprotein. This gene generates several mRNA species as a result of complex alternative polyadenylation. This gene is unusual in that it utilizes arrays of polyA signal sequences that are mostly non-canonical. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014] |
LOC105373316 Genecollagen alpha-4(IV) chain-like |
LOC441454 Geneprothymosin, alpha pseudogene |
GTF3C1 Genegeneral transcription factor IIIC, polypeptide 1, alpha 220kDa Enables RNA polymerase III general transcription initiation factor activity. Predicted to be involved in 5S class rRNA transcription by RNA polymerase III and transcription initiation at RNA polymerase III promoter. Located in nucleolus and nucleoplasm. Part of transcription factor TFIIIC complex. [provided by Alliance of Genome Resources, Mar 2025] |
GTF3C6 Genegeneral transcription factor IIIC, polypeptide 6, alpha 35kDa RNA polymerases are unable to initiate RNA synthesis in the absence of additional proteins called general transcription factors (GTFs). GTFs assemble in a complex on the DNA promoter and recruit the RNA polymerase. GTF3C family proteins (e.g., GTF3C1, MIM 603246) are essential for RNA polymerase III to make a number of small nuclear and cytoplasmic RNAs, including 5S RNA (MIM 180420), tRNA, and adenovirus-associated (VA) RNA of both cellular and viral origin.[supplied by OMIM, Mar 2008] |
LOC100422713 Geneprotein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 pseudogene |
LOC100422710 Geneprotein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 pseudogene |
FUCA1P1 Genefucosidase, alpha-L- 1, tissue pseudogene 1 |
SCN11A Genesodium channel, voltage gated, type XI alpha subunit Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is highly expressed in nociceptive neurons of dorsal root ganglia and trigeminal ganglia. It mediates brain-derived neurotrophic factor-evoked membrane depolarization and is a major effector of peripheral inflammatory pain hypersensitivity. Mutations in this gene have been associated with hereditary sensory and autonomic neuropathy type VII and familial episodic pain syndrome-3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017] |
LOC100289303 Genetubulin, alpha 1b pseudogene |
LOC105370367 Genecollagen alpha-2(VIII) chain-like |
LOC105370368 Genecollagen alpha-2(I) chain-like |
IL20RA Geneinterleukin 20 receptor, alpha This gene encodes a member of the type II cytokine receptor family. The encoded protein is a subunit of the receptor for interleukin 20, a cytokine that may be involved in epidermal function. The interleukin 20 receptor is a heterodimeric complex consisting of the encoded protein and interleukin 20 receptor beta. This gene and interleukin 20 receptor beta are highly expressed in skin, and are upregulated in psoriasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] |
INHA Geneinhibin, alpha This gene encodes a member of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate multiple peptide products, including the alpha subunit of the inhibin A and B protein complexes. These complexes negatively regulate follicle stimulating hormone secretion from the pituitary gland. Inhibins have also been implicated in regulating numerous cellular processes including cell proliferation, apoptosis, immune response and hormone secretion. Mutations in this gene may be associated with male infertility and premature ovarian failure in female human patients. [provided by RefSeq, Aug 2016] |
CAMK2A Genecalcium/calmodulin-dependent protein kinase II alpha The product of this gene belongs to the serine/threonine protein kinases family, and to the Ca(2+)/calmodulin-dependent protein kinases subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. This calcium calmodulin-dependent protein kinase is composed of four different chains: alpha, beta, gamma, and delta. The alpha chain encoded by this gene is required for hippocampal long-term potentiation (LTP) and spatial learning. In addition to its calcium-calmodulin (CaM)-dependent activity, this protein can undergo autophosphorylation, resulting in CaM-independent activity. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2018] |
PRKAR1AP Geneprotein kinase, cAMP-dependent, regulatory, type I, alpha pseudogene |
LOC387720 Genecollagen alpha-1(X) chain |
RARA Generetinoic acid receptor, alpha This gene represents a nuclear retinoic acid receptor. The encoded protein, retinoic acid receptor alpha, regulates transcription in a ligand-dependent manner. This gene has been implicated in 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] |
LOC105375661 Genecollagen alpha-1(I) chain-like |
LOC100421802 Geneprotein phosphatase 2, regulatory subunit B, alpha pseudogene |
NAA20 GeneN(alpha)-acetyltransferase 20, NatB catalytic subunit NAT5 is a component of N-acetyltransferase complex B (NatB). Human NatB performs cotranslational N(alpha)-terminal acetylation of methionine residues when they are followed by asparagine (Starheim et al., 2008 [PubMed 18570629]).[supplied by OMIM, Apr 2009] |
NAA25 GeneN(alpha)-acetyltransferase 25, NatB auxiliary subunit This gene encodes the auxiliary subunit of the heteromeric N-terminal acetyltransferase B complex. This complex acetylates methionine residues that are followed by acidic or asparagine residues.[provided by RefSeq, Mar 2010] |
LAPTM4A Genelysosomal protein transmembrane 4 alpha This gene encodes a protein that has four predicted transmembrane domains. The function of this gene has not yet been determined; however, studies in the mouse homolog suggest a role in the transport of small molecules across endosomal and lysosomal membranes. [provided by RefSeq, Jul 2008] |
MAT2A Genemethionine adenosyltransferase II, alpha The protein encoded by this gene catalyzes the production of S-adenosylmethionine (AdoMet) from methionine and ATP. AdoMet is the key methyl donor in cellular processes. [provided by RefSeq, Jun 2011] |
NAALADL2 GeneN-acetylated alpha-linked acidic dipeptidase-like 2 Predicted to act upstream of or within response to bacterium. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
NAALADL1 GeneN-acetylated alpha-linked acidic dipeptidase-like 1 Enables aminopeptidase activity; metal ion binding activity; and protein homodimerization activity. Involved in peptide catabolic process. Predicted to be located in apical plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
HADHAP2 Genehydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit pseudogene 2 |
ACTC1 Geneactin, alpha, cardiac muscle 1 Actins are highly conserved proteins that are involved in various types of cell motility. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to four others. The protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC). [provided by RefSeq, Jul 2008] |
COL21A1 Genecollagen, type XXI, alpha 1 This gene encodes the alpha chain of type XXI collagen, a member of the FACIT (fibril-associated collagens with interrupted helices) collagen family. Type XXI collagen is localized to tissues containing type I collagen and maintains the integrity of the extracellular matrix. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] |
CACNA2D1 Genecalcium channel, voltage-dependent, alpha 2/delta subunit 1 The preproprotein encoded by this gene is cleaved into multiple chains that comprise the alpha-2 and delta subunits of the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. Mutations in this gene can cause cardiac deficiencies, including Brugada syndrome and short QT syndrome. Alternate splicing results in multiple transcript variants, some of which may lack the delta subunit portion. [provided by RefSeq, Nov 2014] |
GABPAP GeneGA binding protein transcription factor, alpha subunit pseudogene |
SNTA1 Genesyntrophin, alpha 1 Syntrophins are cytoplasmic peripheral membrane scaffold proteins that are components of the dystrophin-associated protein complex. This gene is a member of the syntrophin gene family and encodes the most common syntrophin isoform found in cardiac tissues. The N-terminal PDZ domain of this syntrophin protein interacts with the C-terminus of the pore-forming alpha subunit (SCN5A) of the cardiac sodium channel Nav1.5. This protein also associates cardiac sodium channels with the nitric oxide synthase-PMCA4b (plasma membrane Ca-ATPase subtype 4b) complex in cardiomyocytes. This gene is a susceptibility locus for Long-QT syndrome (LQT) - an inherited disorder associated with sudden cardiac death from arrhythmia - and sudden infant death syndrome (SIDS). This protein also associates with dystrophin and dystrophin-related proteins at the neuromuscular junction and alters intracellular calcium ion levels in muscle tissue. [provided by RefSeq, Jan 2013] |
KCNMA1 Genepotassium channel, calcium activated large conductance subfamily M alpha, member 1 This gene encodes the alpha subunit of calcium-activated BK channel. The encoded protein is involved in several physiological processes including smooth muscle contraction, neurotransmitter release and neuronal excitability. Mutations in this gene are associated with a spectrum of neurological disorders including Paroxysmal Nonkinesigenic Dyskinesia 3, Idiopathic Generalized Epilepsy 16 and Liang-Wang syndrome. [provided by RefSeq, Aug 2022] |
FLNA Genefilamin A, alpha The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration. This protein interacts with integrins, transmembrane receptor complexes, and second messengers. Defects in this gene are a cause of several syndromes, including periventricular nodular heterotopias (PVNH1, PVNH4), otopalatodigital syndromes (OPD1, OPD2), frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), and X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009] |
LOC642791 Geneeukaryotic translation elongation factor 1 alpha 2 pseudogene |
RABGGTA GeneRab geranylgeranyltransferase, alpha subunit Predicted to enable small GTPase binding activity. Predicted to contribute to Rab geranylgeranyltransferase activity. Predicted to be involved in endoplasmic reticulum to Golgi vesicle-mediated transport and protein geranylgeranylation. Predicted to be located in cytosol and plasma membrane. Predicted to be part of Rab-protein geranylgeranyltransferase complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
PTAR1 Geneprotein prenyltransferase alpha subunit repeat containing 1 Predicted to enable protein prenyltransferase activity. Predicted to contribute to Rab geranylgeranyltransferase activity. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025] |
GANC Geneglucosidase, alpha; neutral C Glycosyl hydrolase enzymes hydrolyse the glycosidic bond between two or more carbohydrates, or between a carbohydrate and a non-carbohydrate moiety. This gene encodes a member of glycosyl hydrolases family 31. This enzyme hydrolyses terminal, non-reducing 1,4-linked alpha-D-glucose residues and releases alpha-D-glucose. This is a key enzyme in glycogen metabolism and its gene localizes to a chromosomal region (15q15) that is associated with susceptibility to diabetes. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2014] |
PI4KAP2 Genephosphatidylinositol 4-kinase, catalytic, alpha pseudogene 2 Predicted to enable kinase activity. Predicted to be involved in phosphatidylinositol phosphate biosynthetic process. [provided by Alliance of Genome Resources, Mar 2025] |
CEBPA GeneCCAAT/enhancer binding protein (C/EBP), alpha This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain and recognizes the CCAAT motif in the promoters of target genes. The encoded protein functions in homodimers and also heterodimers with CCAAT/enhancer-binding proteins beta and gamma. Activity of this protein can modulate the expression of genes involved in cell cycle regulation as well as in body weight homeostasis. Mutation of this gene is associated with acute myeloid leukemia. The use of alternative in-frame non-AUG (GUG) and AUG start codons results in protein isoforms with different lengths. Differential translation initiation is mediated by an out-of-frame, upstream open reading frame which is located between the GUG and the first AUG start codons. [provided by RefSeq, Dec 2013] |
LOC346329 Geneguanine nucleotide binding protein (G protein), alpha 11 (Gq class) pseudogene |
CTNNA1 Genecatenin (cadherin-associated protein), alpha 1, 102kDa This gene encodes a member of the catenin family of proteins that play an important role in cell adhesion process by connecting cadherins located on the plasma membrane to the actin filaments inside the cell. The encoded mechanosensing protein contains three vinculin homology domains and undergoes conformational changes in response to cytoskeletal tension, resulting in the reconfiguration of cadherin-actin filament connections. Certain mutations in this gene cause butterfly-shaped pigment dystrophy. [provided by RefSeq, May 2016] |
CTNNA2 Genecatenin (cadherin-associated protein), alpha 2 Enables actin filament binding activity. Involved in negative regulation of Arp2/3 complex-mediated actin nucleation; regulation of neuron migration; and regulation of neuron projection development. Located in cytoplasm. Implicated in complex cortical dysplasia with other brain malformations. [provided by Alliance of Genome Resources, Mar 2025] |
CTNNA3 Genecatenin (cadherin-associated protein), alpha 3 This gene encodes a protein that belongs to the vinculin/alpha-catenin family. The encoded protein plays a role in cell-cell adhesion in muscle cells. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia, familial 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] |
MAN1A1 Genemannosidase, alpha, class 1A, member 1 This gene encodes a class I mammalian Golgi 1,2-mannosidase which is a type II transmembrane protein. This protein catalyzes the hydrolysis of three terminal mannose residues from peptide-bound Man(9)-GlcNAc(2) oligosaccharides and belongs to family 47 of glycosyl hydrolases. [provided by RefSeq, Jul 2012] |
MAN1A2 Genemannosidase, alpha, class 1A, member 2 Alpha-mannosidases function at different stages of N-glycan maturation in mammalian cells. See MAN2A1 (MIM 154582) for general information.[supplied by OMIM, Mar 2008] |
MAN2A2 Genemannosidase, alpha, class 2A, member 2 Predicted to enable alpha-mannosidase activity. Predicted to be involved in N-glycan processing. Predicted to be located in Golgi apparatus and membrane. Predicted to be active in Golgi membrane. [provided by Alliance of Genome Resources, Mar 2025] |
MAN2A1 Genemannosidase, alpha, class 2A, member 1 This gene encodes a glycosyl hydrolase that localizes to the Golgi and catalyzes the final hydrolytic step in the asparagine-linked oligosaccharide (N-glycan) maturation pathway. Mutations in the mouse homolog of this gene have been shown to cause a systemic autoimmune disease similar to human systemic lupus erythematosus. [provided by RefSeq, Dec 2013] |
COL18A1 Genecollagen, type XVIII, alpha 1 This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. A long isoform of the protein has an N-terminal domain that is homologous to the extracellular part of frizzled receptors. Proteolytic processing at several endogenous cleavage sites in the C-terminal domain results in production of endostatin, a potent antiangiogenic protein that is able to inhibit angiogenesis and tumor growth. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] |
TGFA Genetransforming growth factor, alpha This gene encodes a growth factor that is a ligand for the epidermal growth factor receptor, which activates a signaling pathway for cell proliferation, differentiation and development. This protein may act as either a transmembrane-bound ligand or a soluble ligand. This gene has been associated with many types of cancers, and it may also be involved in some cases of cleft lip/palate. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] |
AZGP1P1 Genealpha-2-glycoprotein 1, zinc-binding pseudogene 1 |
TUBA8 Genetubulin, alpha 8 This gene encodes a member of the alpha tubulin protein family. Alpha tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene are associated with polymicrogyria and optic nerve hypoplasia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010] |
LOC101929943 Genetropomyosin alpha-3 chain-like |
OXGR1 Geneoxoglutarate (alpha-ketoglutarate) receptor 1 This gene encodes a G protein-coupled receptor (GPCR) that belongs to the oxoglutarate receptor family within the GPCR superfamily. The encoded protein is activated by the citric acid intermediate, oxoglutarate, as well as several cysteinyl leukotrienes, including leukotrienes E4, C4 and D4, which are implicated in many inflammatory disorders. In mice, a knock-out of this gene leads to middle ear inflammation, changes in the mucosal epithelium, and an increase in fluid behind the eardrum, and is associated with hearing loss. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016] |
TUBAP Genetubulin, alpha pseudogene |
HIF3A Genehypoxia inducible factor 3, alpha subunit The protein encoded by this gene is the alpha-3 subunit of one of several alpha/beta-subunit heterodimeric transcription factors that regulate many adaptive responses to low oxygen tension (hypoxia). The alpha-3 subunit lacks the transactivation domain found in factors containing either the alpha-1 or alpha-2 subunits. It is thought that factors containing the alpha-3 subunit are negative regulators of hypoxia-inducible gene expression. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2011] |
HIF1AP1 Genehypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) pseudogene 1 |
AP2A1 Geneadaptor-related protein complex 2, alpha 1 subunit This gene encodes the alpha 1 adaptin subunit of the adaptor protein 2 (AP-2) complex found in clathrin coated vesicles. The AP-2 complex is a heterotetramer consisting of two large adaptins (alpha or beta), a medium adaptin (mu), and a small adaptin (sigma). The complex is part of the protein coat on the cytoplasmic face of coated vesicles which links clathrin to receptors in vesicles. Alternative splicing of this gene results in two transcript variants encoding two different isoforms. A third transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008] |
AP2A2 Geneadaptor-related protein complex 2, alpha 2 subunit The protein encoded by this gene is a subunit of the AP-2 adaptor protein complex, which is involved in linking lipid and protein membrane components with the clathrin lattice. This interaction supports the formation of clathrin-coated vesicles, and the encoded subunit aids in the process by binding polyphosphoinositide-containing lipids in the cell membrane. [provided by RefSeq, Nov 2016] |
CSF2RA Genecolony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) The protein encoded by this gene is the alpha subunit of the heterodimeric receptor for colony stimulating factor 2, a cytokine which controls the production, differentiation, and function of granulocytes and macrophages. The encoded protein is a member of the cytokine family of receptors. This gene is found in the pseudoautosomal region (PAR) of the X and Y chromosomes. Multiple transcript variants encoding different isoforms have been found for this gene, with some of the isoforms being membrane-bound and others being soluble. [provided by RefSeq, Jul 2008] |
ATAT1 Genealpha tubulin acetyltransferase 1 This gene encodes a protein that localizes to clathrin-coated pits, where it acetylates alpha tubulin on lysine 40. This process may be important in microtubule growth, for instance during chemotaxis and the formation of cilium. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] |
PRKACA Geneprotein kinase, cAMP-dependent, catalytic, alpha This gene encodes one of the catalytic subunits of protein kinase A, which exists as a tetrameric holoenzyme with two regulatory subunits and two catalytic subunits, in its inactive form. cAMP causes the dissociation of the inactive holoenzyme into 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 in humans. cAMP-dependent phosphorylation of proteins by protein kinase A is important to many cellular processes, including differentiation, proliferation, and apoptosis. Constitutive activation of this gene caused either by somatic mutations, or genomic duplications of regions that include this gene, have been associated with hyperplasias and adenomas of the adrenal cortex and are linked to corticotropin-independent Cushing's syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. Tissue-specific isoforms that differ at the N-terminus have been described, and these isoforms may differ in the post-translational modifications that occur at the N-terminus of some isoforms. [provided by RefSeq, Jan 2015] |
GNA14 Geneguanine nucleotide binding protein (G protein), alpha 14 This gene encodes a member of the guanine nucleotide-binding, or G protein family. G proteins are heterotrimers consisting of alpha, beta and gamma subunits. The encoded protein is a member of the alpha family of G proteins, more specifically the alpha q subfamily of G proteins. The encoded protein may play a role in pertussis-toxin resistant activation of phospholipase C-beta and its downstream effectors.[provided by RefSeq, Feb 2009] |
GNA15 Geneguanine nucleotide binding protein (G protein), alpha 15 (Gq class) Enables G protein-coupled receptor binding activity. Acts upstream of or within with a positive effect on calcium-mediated signaling. Predicted to be located in plasma membrane. Predicted to be part of heterotrimeric G-protein complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
GNA12 Geneguanine nucleotide binding protein (G protein) alpha 12 Enables G protein activity; protein phosphatase 2A binding activity; and protein phosphatase activator activity. Involved in regulation of TOR signaling and regulation of proteasomal ubiquitin-dependent protein catabolic process. Located in lateral plasma membrane; neuron projection; and neuronal cell body. [provided by Alliance of Genome Resources, Mar 2025] |
GNA13 Geneguanine nucleotide binding protein (G protein), alpha 13 Enables G protein activity. Involved in G protein-coupled receptor signaling pathway. Located in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
GNA11 Geneguanine nucleotide binding protein (G protein), alpha 11 (Gq class) The protein encoded by this gene belongs to the family of guanine nucleotide-binding proteins (G proteins), which function as modulators or transducers in various transmembrane signaling systems. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes one of the alpha subunits (subunit alpha-11). Mutations in this gene have been associated with hypocalciuric hypercalcemia type II (HHC2) and hypocalcemia dominant 2 (HYPOC2). Patients with HHC2 and HYPOC2 exhibit decreased or increased sensitivity, respectively, to changes in extracellular calcium concentrations. [provided by RefSeq, Dec 2013] |
OGDH Geneoxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) This gene encodes one subunit of the 2-oxoglutarate dehydrogenase complex. This complex catalyzes the overall conversion of 2-oxoglutarate (alpha-ketoglutarate) to succinyl-CoA and CO(2) during the Krebs cycle. The protein is located in the mitochondrial matrix and uses thiamine pyrophosphate as a cofactor. A congenital deficiency in 2-oxoglutarate dehydrogenase activity is believed to lead to hypotonia, metabolic acidosis, and hyperlactatemia. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009] |
ALPK1 Genealpha-kinase 1 This gene encodes an alpha kinase. Mice which were homozygous for disrupted copies of this gene exhibited coordination defects (PMID: 21208416). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] |
ALPK3 Genealpha-kinase 3 Predicted to enable ATP binding activity; protein serine kinase activity; and protein serine/threonine kinase activity. Predicted to be involved in cardiac muscle cell development. Predicted to be active in nucleus. Implicated in familial hypertrophic cardiomyopathy. [provided by Alliance of Genome Resources, Mar 2025] |
CSNK1A1 Genecasein kinase 1, alpha 1 Enables protein serine/threonine kinase activity. Involved in several processes, including peptidyl-serine phosphorylation; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; and regulation of signal transduction. Located in cytoskeleton; cytosol; and nucleus. Part of beta-catenin destruction complex. Biomarker of Alzheimer's disease and inclusion body myositis. [provided by Alliance of Genome Resources, Mar 2025] |
LOC100129001 Genegeneral transcription factor IIIC, polypeptide 6, alpha 35kDa pseudogene |
ATP5A1 GeneATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the different isoforms have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. [provided by RefSeq, Mar 2012] |
SERPINA7P1 Geneserpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 pseudogene 1 |
A3GALT2 Genealpha 1,3-galactosyltransferase 2 Predicted to enable N-acetyllactosaminide 3-alpha-galactosyltransferase activity and alpha-1,3-galactosyltransferase activity. Predicted to be involved in lipid glycosylation. Predicted to act upstream of or within glycosphingolipid biosynthetic process. Predicted to be located in Golgi cisterna membrane. Predicted to be active in Golgi apparatus and vesicle. [provided by Alliance of Genome Resources, Mar 2025] |
NACA2 Genenascent polypeptide-associated complex alpha subunit 2 Predicted to enable unfolded protein binding activity. Predicted to be involved in protein targeting to membrane. Predicted to be located in nucleus. Predicted to be part of nascent polypeptide-associated complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
NACAD GeneNAC alpha domain containing Predicted to enable unfolded protein binding activity. Predicted to be involved in protein targeting to membrane. Predicted to be located in nucleus. Predicted to be part of nascent polypeptide-associated complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
PIANP GenePILR alpha associated neural protein This gene encodes a ligand for the paired immunoglobin-like type 2 receptor alpha, and so may be involved in immune regulation. Alternate splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Sep 2011] |
GP1BA Geneglycoprotein Ib (platelet), alpha polypeptide Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and a beta chain, that is linked by disulfide bonds. The Gp Ib functions as a receptor for von Willebrand factor (VWF). The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX and platelet glycoprotein V. The binding of the GP Ib-IX-V complex to VWF facilitates initial platelet adhesion to vascular subendothelium after vascular injury, and also initiates signaling events within the platelet that lead to enhanced platelet activation, thrombosis, and hemostasis. This gene encodes the alpha subunit. Mutations in this gene result in Bernard-Soulier syndromes and platelet-type von Willebrand disease. The coding region of this gene is known to contain a polymophic variable number tandem repeat (VNTR) domain that is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy. [provided by RefSeq, Oct 2013] |
CSNK1A1P3 Genecasein kinase 1, alpha 1 pseudogene 3 |
CSNK1A1P2 Genecasein kinase 1, alpha 1 pseudogene 2 |
CSNK1A1P1 Genecasein kinase 1, alpha 1 pseudogene 1 |
COL28A1 Genecollagen, type XXVIII, alpha 1 COL28A1 belongs to a class of collagens containing von Willebrand factor (VWF; MIM 613160) type A (VWFA) domains (Veit et al., 2006 [PubMed 16330543]).[supplied by OMIM, Nov 2010] |
DFFA GeneDNA fragmentation factor, 45kDa, alpha polypeptide Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during 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 chromatin condensation during apoptosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
PITPNA Genephosphatidylinositol transfer protein, alpha This gene encodes a member of a family of lipid-binding proteins that transfer molecules of phosphatidylinositol or phosphatidylcholine between membrane surfaces. The protein is implicated in phospholipase C signaling and in the production of phosphatidylinositol 3,4,5-trisphosphate (PIP3) by phosphoinositide-3-kinase.[provided by RefSeq, Sep 2009] |
IL13RA2 Geneinterleukin 13 receptor, alpha 2 The protein encoded by this gene is closely related to Il13RA1, a subuint of the interleukin 13 receptor complex. This protein binds IL13 with high affinity, but lacks cytoplasmic domain, and does not appear to function as a signal mediator. It is reported to play a role in the internalization of IL13. [provided by RefSeq, Jul 2008] |
IL13RA1 Geneinterleukin 13 receptor, alpha 1 The protein encoded by this gene is a subunit of the interleukin 13 receptor. This subunit forms a receptor complex with IL4 receptor alpha, a subunit shared by IL13 and IL4 receptors. This subunit serves as a primary IL13-binding subunit of the IL13 receptor, and may also be a component of IL4 receptors. This protein has been shown to bind tyrosine kinase TYK2, and thus may mediate the signaling processes that lead to the activation of JAK1, STAT3 and STAT6 induced by IL13 and IL4. [provided by RefSeq, Jul 2008] |
MANEA Genemannosidase, endo-alpha N-glycosylation of proteins is initiated in the endoplasmic reticulum (ER) by the transfer of the preassembled oligosaccharide glucose-3-mannose-9-N-acetylglucosamine-2 from dolichyl pyrophosphate to acceptor sites on the target protein by an oligosaccharyltransferase complex. This core oligosaccharide is sequentially processed by several ER glycosidases and by an endomannosidase (E.C. 3.2.1.130), such as MANEA, in the Golgi. MANEA catalyzes the release of mono-, di-, and triglucosylmannose oligosaccharides by cleaving the alpha-1,2-mannosidic bond that links them to high-mannose glycans (Hamilton et al., 2005 [PubMed 15677381]).[supplied by OMIM, Sep 2008] |
LALBA Genelactalbumin, alpha- This gene encodes alpha-lactalbumin, a principal protein of milk. Alpha-lactalbumin forms the regulatory subunit of the lactose synthase (LS) heterodimer and beta 1,4-galactosyltransferase (beta4Gal-T1) forms the catalytic component. Together, these proteins enable LS to produce lactose by transfering galactose moieties to glucose. As a monomer, alpha-lactalbumin strongly binds calcium and zinc ions and may possess bactericidal or antitumor activity. A folding variant of alpha-lactalbumin, called HAMLET, likely induces apoptosis in tumor and immature cells. [provided by RefSeq, Jul 2008] |
EEF1A1P24 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 24 |
DOC2A Genedouble C2-like domains, alpha There are at least two protein isoforms of the Double C2 protein, namely alpha (DOC2A) and beta (DOC2B), which contain two C2-like domains. DOC2A and DOC2B are encoded by different genes; these genes are at times confused with the unrelated DAB2 gene which was initially named DOC-2. DOC2A is mainly expressed in brain and is suggested to be involved in Ca(2+)-dependent neurotransmitter release. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] |
LOC401677 Geneeukaryotic translation elongation factor 1 alpha 2 pseudogene |
EEF1A1P21 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 21 |
EEF1A1P29 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 29 |
COL11A1 Genecollagen, type XI, alpha 1 This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009] |
COL11A2 Genecollagen, type XI, alpha 2 This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13), and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53). Alternative splicing results in multiple transcript variants. A related pseudogene is located nearby on chromosome 6. [provided by RefSeq, Jul 2009] |
CHRFAM7A GeneCHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion The nicotinic acetylcholine receptors (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 in 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 splicing has been observed, and two variants exist, for this hybrid gene. The N-terminally truncated products predicted by the largest open reading frames for each variant would lack the majority of the neurotransmitter-gated ion-channel ligand binding domain but retain the transmembrane region that forms the ion channel. Although current evidence supports transcription of this hybrid gene, translation of the nicotinic acetylcholine receptor-like protein-encoding open reading frames has not been confirmed. [provided by RefSeq, Jul 2008] |
NDUFA11 GeneNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa This gene encodes a subunit of the membrane-bound mitochondrial complex I. Complex I is composed of numerous subunits and functions as the NADH-ubiquinol reductase of the mitochondrial electron transport chain. Mutations in this gene are associated with severe mitochondrial complex I deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010] |
NDUFA12 GeneNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 This gene encodes a protein which is part of mitochondrial complex 1, part of the oxidative phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for the generation of ATP. Mutations in this gene are associated with Leigh syndrome due to mitochondrial complex 1 deficiency. Pseudogenes of this gene are located on chromosomes 5 and 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012] |
NDUFA13 GeneNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13 This gene encodes a subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain. The protein is required for complex I assembly and electron transfer activity. The protein binds the signal transducers and activators of transcription 3 (STAT3) transcription factor, and can function as a tumor suppressor. The human protein purified from mitochondria migrates at approximately 16 kDa. Transcripts originating from an upstream promoter and capable of expressing a protein with a longer N-terminus have been found, but their biological validity has not been determined. [provided by RefSeq, Oct 2009] |
CYBA Genecytochrome b-245, alpha polypeptide Cytochrome b is comprised of a light chain (alpha) and a heavy chain (beta). This gene encodes the light, alpha subunit which has been proposed as a primary component of the microbicidal oxidase system of phagocytes. Mutations in this gene are associated with autosomal recessive chronic granulomatous disease (CGD), that is characterized by the failure of activated phagocytes to generate superoxide, which is important for the microbicidal activity of these cells. [provided by RefSeq, Jul 2008] |
LOC105376684 Genecollagen alpha-2(I) chain-like |
HSPB9 Geneheat shock protein, alpha-crystallin-related, B9 Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
NTF6A Geneneurotrophin 6 alpha (pseudogene) |
A2MP1 Genealpha-2-macroglobulin pseudogene 1 |
LOC100127917 Geneheat shock protein 90kDa alpha (cytosolic), class B member 1 pseudogene |
ALG9 GeneALG9, alpha-1,2-mannosyltransferase This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] |
PSMA3 Geneproteasome (prosome, macropain) subunit, alpha type, 3 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Two alternative transcripts encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] |
LOC105371935 Genecollagen alpha-4(IV) chain-like |
ACTR1A GeneARP1 actin-related protein 1 homolog A, centractin alpha (yeast) This gene encodes a 42.6 kD subunit of dynactin, a macromolecular complex consisting of 10-11 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit is present in 8-13 copies per dynactin molecule, and is the most abundant molecule in the dynactin complex. It is an actin-related protein, and is approximately 60% identical at the amino acid level to conventional actin. [provided by RefSeq, Jul 2008] |
PIP4K2A Genephosphatidylinositol-5-phosphate 4-kinase, type II, alpha Phosphatidylinositol-5,4-bisphosphate, the precursor to second messengers of the phosphoinositide signal transduction pathways, is thought to be involved in the regulation of secretion, cell proliferation, differentiation, and motility. The protein encoded by this gene is one of a family of enzymes capable of catalyzing the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. The amino acid sequence of this enzyme does not show homology to other kinases, but the recombinant protein does exhibit kinase activity. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. [provided by RefSeq, Jul 2008] |
PDGFRA Geneplatelet-derived growth factor receptor, alpha polypeptide This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. Studies suggest that this gene plays a role in organ development, wound healing, and tumor progression. Mutations in this gene have been associated with idiopathic hypereosinophilic syndrome, somatic and familial gastrointestinal stromal tumors, and a variety of other cancers. [provided by RefSeq, Mar 2012] |
LOC105372231 Genecollagen alpha-1(III) chain-like |
C4BPAP3 Genecomplement component 4 binding protein, alpha pseudogene 3 |
C4BPAP2 Genecomplement component 4 binding protein, alpha pseudogene 2 |
HSP90AA5P Geneheat shock protein 90kDa alpha (cytosolic), class A member 5, pseudogene Predicted to enable several functions, including ATP binding activity; ATP hydrolysis activity; and ATP-dependent protein folding chaperone. Predicted to be involved in protein folding. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
PTMAP8 Geneprothymosin, alpha pseudogene 8 |
HADHAP1 Genehydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit pseudogene 1 |
DEFA7P Genedefensin, alpha 7 pseudogene |
PCYT1A Genephosphate cytidylyltransferase 1, choline, alpha This gene belongs to the cytidylyltransferase family and is involved in the regulation of phosphatidylcholine biosynthesis. Mutations in this gene are associated with spondylometaphyseal dysplasia with cone-rod dystrophy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015] |
SCN3A Genesodium channel, voltage gated, type III alpha subunit Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is found in a cluster of five alpha subunit genes on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
PIK3C2A Genephosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is not sensitive to nanomolar levels of the inhibitor wortmanin. This protein was shown to be able to be activated by insulin and may be involved in integrin-dependent signaling. [provided by RefSeq, Jul 2008] |
LOC100505788 GeneNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa pseudogene |
EEF1A1P13 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 13 |
EEF1A1P12 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 12 |
EEF1A1P11 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 11 |
EEF1A1P17 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 17 |
EEF1A1P16 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 16 |
FUT7 Genefucosyltransferase 7 (alpha (1,3) fucosyltransferase) The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of sialyl-Lewis X antigens. The encoded protein can direct the synthesis of the E-selectin-binding sialyl-Lewis X moiety. [provided by RefSeq, Jul 2008] |
FUT6 Genefucosyltransferase 6 (alpha (1,3) fucosyltransferase) The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of sialyl-Lewis X, an E-selectin ligand. Mutations in this gene are a cause of fucosyltransferase-6 deficiency. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] |
FUT5 Genefucosyltransferase 5 (alpha (1,3) fucosyltransferase) Enables 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity and 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase activity. Involved in ceramide metabolic process; oligosaccharide metabolic process; and protein glycosylation. Predicted to be located in Golgi membrane. [provided by Alliance of Genome Resources, Mar 2025] |
FUT4 Genefucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) The product of this gene transfers fucose to N-acetyllactosamine polysaccharides to generate fucosylated carbohydrate structures. It catalyzes the synthesis of the non-sialylated antigen, Lewis x (CD15). [provided by RefSeq, Jan 2009] |
FUT1 Genefucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) This gene encodes a Golgi stack membrane protein that is involved in the creation of a precursor of the H antigen, which is required for the final step in the synthesis of soluble A and B antigens. This is one of two genes encoding the galactoside 2-L-fucosyltransferase enzyme. Mutations in this gene are a cause of the H-Bombay blood group. [provided by RefSeq, Aug 2016] |
FUT9 Genefucosyltransferase 9 (alpha (1,3) fucosyltransferase) The protein encoded by this gene belongs to the glycosyltransferase family. It is localized to the golgi, and catalyzes the last step in the biosynthesis of Lewis X (LeX) antigen, the addition of a fucose to precursor polysaccharides. This protein is one of the few fucosyltransferases that synthesizes the LeX oligosaccharide (CD15) expressed in the organ buds progressing in mesenchyma during embryogenesis. It is also responsible for the expression of CD15 in mature granulocytes. A common haplotype of this gene has also been associated with susceptibility to placental malaria infection. [provided by RefSeq, Nov 2011] |
FUT8 Genefucosyltransferase 8 (alpha (1,6) fucosyltransferase) This gene encodes an enzyme belonging to the family of fucosyltransferases. The product of this gene catalyzes the transfer of fucose from GDP-fucose to N-linked type complex glycopeptides. This enzyme is distinct from other fucosyltransferases which catalyze alpha1-2, alpha1-3, and alpha1-4 fucose addition. The expression of this gene may contribute to the malignancy of cancer cells and to their invasive and metastatic capabilities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011] |
PEX11A Geneperoxisomal biogenesis factor 11 alpha This gene is a member of the PEX11 family, which is composed of membrane elongation factors involved in regulation of peroxisome maintenance and proliferation. This gene product interacts with peroxisomal membrane protein 19 and may respond to outside stimuli to increase peroxisome abundance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012] |
LOC100129456 Geneheat shock protein 90kDa alpha (cytosolic), class B member 1 pseudogene |
CBFA2T3 Genecore-binding factor, runt domain, alpha subunit 2; translocated to, 3 This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(16;21)(q24;q22) translocation is one of the less common karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. This gene is also a putative breast tumor suppressor. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010] |
CBFA2T2 Genecore-binding factor, runt domain, alpha subunit 2; translocated to, 2 In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5'-region of the RUNX1 (AML1) gene fused to the 3'-region of the CBFA2T1 (MTG8) gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. The protein encoded by this gene binds to the AML1-MTG8 complex and may be important in promoting leukemogenesis. Several transcript variants are thought to exist for this gene, but the full-length natures of only three have been described. [provided by RefSeq, Jul 2008] |
GSTA7P Geneglutathione S-transferase alpha 7, pseudogene |
MAN2B2 Genemannosidase, alpha, class 2B, member 2 Predicted to enable alpha-mannosidase activity. Predicted to be involved in mannose metabolic process and oligosaccharide catabolic process. Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025] |
MAN2B1 Genemannosidase, alpha, class 2B, member 1 This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010] |
GSK3A Geneglycogen synthase kinase 3 alpha This gene encodes a multifunctional Ser/Thr protein kinase that is implicated in the control of several regulatory proteins including glycogen synthase, and transcription factors, such as JUN. It also plays a role in the WNT and PI3K signaling pathways, as well as regulates the production of beta-amyloid peptides associated with Alzheimer's disease. [provided by RefSeq, Oct 2011] |
HSP90AB2P Geneheat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene Predicted to enable ATP binding activity; ATP hydrolysis activity; and unfolded protein binding activity. Predicted to be involved in cellular response to heat; protein folding; and protein stabilization. Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025] |
LOC105372487 Genetransformer-2 protein homolog alpha-like |
COL22A1 Genecollagen, type XXII, alpha 1 This gene encodes member of the collagen family which is thought to contribute to the stabilization of myotendinous junctions and strengthen skeletal muscle attachments during contractile activity. It belongs to the fibril-associated collagens with interrupted triple helix (FACIT) subset of the collagen superfamily, which associate with collagen fibers through their C-terminal collagenous domains and mediate protein-protein interactions through their N-terminal noncollagenous domains. The encoded protein is deposited in the basement membrane zone of the myotendinous junction which is present only at the tissue junctions of muscles, tendons, the heart, articular cartilage, and skin. A knockdown of the orthologous zebrafish gene induces a muscular dystrophy by disruption of the myotendinous junction. [provided by RefSeq, May 2017] |
LOC100129942 Genecapping protein (actin filament) muscle Z-line, alpha 2 pseudogene |
COL5A2 Genecollagen, type V, alpha 2 This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008] |
COL5A3 Genecollagen, type V, alpha 3 This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages. [provided by RefSeq, Jul 2008] |
COL5A1 Genecollagen, type V, alpha 1 This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013] |
LOC100533710 Genemannosidase, alpha, class 1B, member 1 pseudogene |
CACNA2D2 Genecalcium channel, voltage-dependent, alpha 2/delta subunit 2 Calcium channels mediate the entry of calcium ions into the cell upon membrane polarization. This gene encodes the alpha-2/delta subunit of the voltage-dependent calcium channel complex. The complex consists of the main channel-forming subunit alpha-1, and auxiliary subunits alpha-2/delta, beta, and gamma. The auxiliary subunits function in the assembly and membrane localization of the complex, and modulate calcium currents and channel activation/inactivation kinetics. The subunit encoded by this gene undergoes post-translational cleavage to yield the extracellular alpha2 peptide and a membrane-anchored delta polypeptide. This subunit is a receptor for the antiepileptic drug, gabapentin. Mutations in this gene are associated with early infantile epileptic encephalopathy. Single nucleotide polymorphisms in this gene are correlated with increased sensitivity to opioid drugs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014] |
CACNA2D3 Genecalcium channel, voltage-dependent, alpha 2/delta subunit 3 This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] |
CACNA2D4 Genecalcium channel, voltage-dependent, alpha 2/delta subunit 4 This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] |
PIK3R1 Genephosphoinositide-3-kinase, regulatory subunit 1 (alpha) Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a regulatory subunit of either 85, 55, or 50 kD. This gene encodes the 85 kD regulatory subunit. Phosphatidylinositol 3-kinase plays an important role in the metabolic actions of insulin, and a mutation in this gene has been associated with insulin resistance. Alternative splicing of this gene results in four transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011] |
TUBAL3 Genetubulin, alpha-like 3 Predicted to enable GTP binding activity. Predicted to be a structural constituent of cytoskeleton. Predicted to be involved in microtubule cytoskeleton organization and mitotic cell cycle. Predicted to be located in microtubule cytoskeleton. Predicted to be active in cytoplasm and microtubule. [provided by Alliance of Genome Resources, Mar 2025] |
SLC51A Genesolute carrier family 51, alpha subunit Predicted to enable protein heterodimerization activity; protein homodimerization activity; and transmembrane transporter activity. Involved in bile acid secretion. Located in basolateral plasma membrane. Implicated in progressive familial intrahepatic cholestasis. [provided by Alliance of Genome Resources, Mar 2025] |
CGA Geneglycoprotein hormones, alpha polypeptide The four human glycoprotein hormones chorionic gonadotropin (CG), luteinizing hormone (LH), follicle stimulating hormone (FSH), and thyroid stimulating hormone (TSH) are dimers consisting of alpha and beta subunits that are associated noncovalently. The alpha subunits of these hormones are identical, however, their beta chains are unique and confer biological specificity. The protein encoded by this gene is the alpha subunit and belongs to the glycoprotein hormones alpha chain family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] |
PDGFA Geneplatelet-derived growth factor alpha polypeptide This gene encodes a member of the protein family comprised of both platelet-derived growth factors (PDGF) and vascular endothelial growth factors (VEGF). The encoded preproprotein is proteolytically processed to generate platelet-derived growth factor subunit A, which can homodimerize, or alternatively, heterodimerize with the related platelet-derived growth factor subunit B. These proteins bind and activate PDGF receptor tyrosine kinases, which play a role in a wide range of developmental processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] |
CSN1S2AP Genecasein alpha s2-like A, pseudogene This locus is the equivalent of casein gamma in mouse (GeneID 12993) and is found in a cluster of casein genes, similar to other mammals. In human, the potential open reading frame that matches the homologous protein from other species is prematurely truncated shortly after the signal peptide. Therefore, this locus appears to be a pseudogene. [provided by RefSeq, Jul 2008] |
PRKAR1A Geneprotein kinase, cAMP-dependent, regulatory, type I, alpha cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into 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 in humans. This gene encodes one of the regulatory subunits. This protein was found to be a tissue-specific extinguisher that down-regulates the expression of seven liver genes in hepatoma x fibroblast hybrids. Mutations in this gene cause Carney complex (CNC). This gene can fuse to the RET protooncogene by gene rearrangement and form the thyroid tumor-specific chimeric oncogene known as PTC2. A nonconventional nuclear localization sequence (NLS) has been found for this protein which suggests a role in DNA replication via the protein serving as a nuclear transport protein for the second subunit of the Replication Factor C (RFC40). Several alternatively spliced transcript variants encoding two different isoforms have been observed. [provided by RefSeq, Jan 2013] |
HLA-DMA Genemajor histocompatibility complex, class II, DM alpha HLA-DMA belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta chain (DMB), both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the cytoplasmic tail. [provided by RefSeq, Jul 2008] |
IL10RA Geneinterleukin 10 receptor, alpha The protein encoded by this gene is a receptor for interleukin 10. This protein is structurally related to interferon receptors. It has been shown to mediate the immunosuppressive signal of interleukin 10, and thus inhibits the synthesis of proinflammatory cytokines. This receptor is reported to promote survival of progenitor myeloid cells through the insulin receptor substrate-2/PI 3-kinase/AKT pathway. Activation of this receptor leads to tyrosine phosphorylation of JAK1 and TYK2 kinases. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2009] |
C4BPA Genecomplement component 4 binding protein, alpha This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. Along with a single, unique beta-chain, seven identical alpha-chains encoded by this gene assemble into the predominant isoform of C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. The genes encoding both alpha and beta chains are located adjacent to each other on human chromosome 1 in the regulator of complement activation gene cluster. Two pseudogenes of this gene are also found in the cluster. [provided by RefSeq, Jul 2008] |
LOC100422375 Genephosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha pseudogene |
PSMA2 Geneproteasome (prosome, macropain) subunit, alpha type, 2 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. [provided by RefSeq, Jul 2008] |
PSMA1 Geneproteasome (prosome, macropain) subunit, alpha type, 1 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009] |
PSMA7 Geneproteasome (prosome, macropain) subunit, alpha type, 7 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the peptidase T1A family that functions as a 20S core alpha subunit. The encoded protein interacts with the hepatitis B virus X protein and plays a role in regulating hepatitis C virus internal ribosome entry site (IRES) activity, an activity essential for viral replication. The encoded protein also plays a role in the cellular stress response by regulating hypoxia-inducible factor-1alpha. A pseudogene of this gene is located on the long arm of chromosome 9. [provided by RefSeq, Jul 2012] |
PSMA4 Geneproteasome (prosome, macropain) subunit, alpha type, 4 This gene encodes a core alpha subunit of the 20S proteosome, which is a highly ordered ring-shaped structure composed of four rings of 28 non-identical subunits. Proteasomes cleave peptides in an ATP- and ubiquitin-dependent manner. [provided by RefSeq, Aug 2016] |
PSMA5 Geneproteasome (prosome, macropain) subunit, alpha type, 5 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010] |
PSMA8 Geneproteasome (prosome, macropain) subunit, alpha type, 8 Predicted to be involved in meiotic cell cycle and proteasome-mediated ubiquitin-dependent protein catabolic process. Located in extracellular exosome and nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
LOC100533848 GeneATPase, H+/K+ transporting, nongastric, alpha polypeptide pseudogene |
ADRA1A Geneadrenoceptor alpha 1A Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1A-adrenergic receptor. Alternative splicing of this gene generates four transcript variants, which encode four different isoforms with distinct C-termini but having similar ligand binding properties. [provided by RefSeq, Jul 2008] |
ADRA1B Geneadrenoceptor alpha 1B Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1B-adrenergic receptor, which induces neoplastic transformation when transfected into NIH 3T3 fibroblasts and other cell lines. Thus, this normal cellular gene is identified as a protooncogene. This gene comprises 2 exons and a single large intron of at least 20 kb that interrupts the coding region. [provided by RefSeq, Jul 2008] |
ADRA1D Geneadrenoceptor alpha 1D Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1D-adrenergic receptor. Similar to alpha-1B-adrenergic receptor gene, this gene comprises 2 exons and a single intron that interrupts the coding region. [provided by RefSeq, Jul 2008] |
LOC100506596 Genefibril-forming collagen alpha chain |
LOC105375938 Genecollagen alpha-1(I) chain-like |
GLRA1 Geneglycine receptor, alpha 1 The protein encoded by this gene is a subunit of a pentameric inhibitory glycine receptor, which mediates postsynaptic inhibition in the central nervous system. Defects in this gene are a cause of startle disease (STHE), also known as hereditary hyperekplexia or congenital stiff-person syndrome. Multiple transcript variants encoding different isoforms have been found. [provided by RefSeq, Dec 2015] |
COL12A1 Genecollagen, type XII, alpha 1 This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] |
COL6A4P1 Genecollagen, type VI, alpha 4 pseudogene 1 This transcribed pseudogene represents the 5' end of a presumed ortholog to a mouse gene which encodes a collagen VI alpha 4 chain protein (GeneID 68553). No complete ORF of comparable size to the mouse protein is found in this gene. The predicted protein lacks a signal peptide; however, this truncated collagen polypeptide may have achieved a different function as suggested by PubMed ID: 18622395. Evidence of in vivo translation is incomplete. A large chromosome break separates this pseudogene from the 3' end of the presumed ortholog (COL6A4P2, GeneID 646300) which is located downstream at chromosome 3q21.3. [provided by RefSeq, Jun 2009] |
LOC645680 Genekaryopherin alpha 2 pseudogene |
ALG10 GeneALG10, alpha-1,2-glucosyltransferase This gene encodes a membrane-associated protein that adds the third glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. That is, it transfers the terminal glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc2Man9GlcNAc(2)-PP-Dol. The rat protein homolog was shown to specifically modulate the gating function of the rat neuronal ether-a-go-go (EAG) potassium ion channel. [provided by RefSeq, Jan 2010] |
ALG11 GeneALG11, alpha-1,2-mannosyltransferase This gene encodes a GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase which is localized to the cytosolic side of the endoplasmic reticulum (ER) and catalyzes the transfer of the fourth and fifth mannose residue from GDP-mannose (GDP-Man) to Man3GlcNAc2-PP-dolichol and Man4GlcNAc2-PP-dolichol resulting in the production of Man5GlcNAc2-PP-dolichol. Mutations in this gene are associated with congenital disorder of glycosylation type Ip (CDGIP). This gene overlaps but is distinct from the UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) gene. A pseudogene of the GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase has been identified on chromosome 19. [provided by RefSeq, Aug 2010] |
ALG12 GeneALG12, alpha-1,6-mannosyltransferase This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. [provided by RefSeq, Jul 2008] |
AHSP Genealpha hemoglobin stabilizing protein This gene encodes a molecular chaperone which binds specifically to free alpha-globin and is involved in hemoglobin assembly. The encoded protein binds to monomeric alpha-globin until it has been transferred to beta-globin to form a heterodimer, which in turn binds to another heterodimer to form the stable tetrameric hemoglobin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] |
AHSG Genealpha-2-HS-glycoprotein The protein encoded by this gene is a negatively-charged serum glycoprotein that is synthesized by hepatocytes. The encoded protein consists of two polypeptide chains, which are both cleaved from a proprotein encoded from a single mRNA. It is involved in several processes, including endocytosis, brain development, and the formation of bone tissue. Defects in this gene are a cause of susceptibility to leanness. [provided by RefSeq, Aug 2017] |
AMACR Genealpha-methylacyl-CoA racemase This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxidation. Encoded proteins from this locus localize to both mitochondria and peroxisomes. Mutations in this gene may be associated with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and adrenomyeloneuropathy due to defects in bile acid synthesis. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the upstream neighboring C1QTNF3 (C1q and tumor necrosis factor related protein 3) gene. [provided by RefSeq, Mar 2011] |
LOC105371898 Geneprothymosin alpha-like |
LOC105376068 Genecollagen alpha-1(I) chain-like |
TUBA3FP Genetubulin, alpha 3f, pseudogene |
IFNA20P Geneinterferon, alpha 20, pseudogene |
COL6A4P2 Genecollagen, type VI, alpha 4 pseudogene 2 This transcribed pseudogene represents the 3' end of a presumed ortholog to a mouse gene which encodes a collagen VI alpha 4 chain protein (GeneID 68553). The predicted ORF contains multiple premature stop codons. A large chromosome break separates this pseudogene from the 5' end of the presumed ortholog (DVWA, GeneID 344875) which is located upstream at chromosome 3p24.3. [provided by RefSeq, Jun 2009] |
NAGLU GeneN-acetylglucosaminidase, alpha This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate. [provided by RefSeq, Jul 2008] |
LOC100422324 Genecapping protein (actin filament) muscle Z-line, alpha 1 pseudogene |
HSP90AA2P Geneheat shock protein 90kDa alpha (cytosolic), class A member 2, pseudogene HSP90 proteins are highly conserved molecular chaperones that have key roles in signal transduction, protein folding, protein degradation, and morphologic evolution. HSP90 proteins normally associate with other cochaperones and play important roles in folding newly synthesized proteins or stabilizing and refolding denatured proteins after stress. HSP90AA2 is a cytosolic HSP90 protein. Other HSP90 proteins are found in endoplasmic reticulum (HSP90B1; MIM 191175) and mitochondria (TRAP1; MIM 606219) (Chen et al., 2005 [PubMed 16269234]). See HSP90AA1 (MIM 140571) for further information on HSP90 proteins.[supplied by OMIM, Aug 2008] |
LOC645773 Genetubulin, alpha 4a pseudogene |
CTNNA1P1 Genecatenin (cadherin-associated protein), alpha 1 pseudogene 1 |
AFP Genealpha-fetoprotein This gene encodes alpha-fetoprotein, a major plasma protein produced by the yolk sac and the liver during fetal life. Alpha-fetoprotein expression in adults is often associated with hepatocarcinoma and with teratoma, and has prognostic value for managing advanced gastric cancer. However, hereditary persistance of alpha-fetoprotein may also be found in individuals with no obvious pathology. The protein is thought to be the fetal counterpart of serum albumin, and the alpha-fetoprotein and albumin genes are present in tandem in the same transcriptional orientation on chromosome 4. Alpha-fetoprotein is found in monomeric as well as dimeric and trimeric forms, and binds copper, nickel, fatty acids and bilirubin. The level of alpha-fetoprotein in amniotic fluid is used to measure renal loss of protein to screen for spina bifida and anencephaly. [provided by RefSeq, Oct 2019] |
SSR1P1 Genesignal sequence receptor, alpha pseudogene 1 |
IFI27 Geneinterferon, alpha-inducible protein 27 Enables several functions, including RNA polymerase II-specific DNA-binding transcription factor binding activity; identical protein binding activity; and lamin binding activity. Involved in several processes, including defense response to symbiont; protein K48-linked ubiquitination; and pyroptotic inflammatory response. Acts upstream of or within negative regulation of transcription by RNA polymerase II and regulation of protein export from nucleus. Located in mitochondrial membrane and nuclear inner membrane. Is active in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025] |
GNAI2P2 Geneguanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 pseudogene 2 |
GNAI2P1 Geneguanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 pseudogene 1 |
LOC100131280 Geneintegrin alpha FG-GAP repeat containing 2 pseudogene |
LOC105373140 Geneprothymosin alpha-like |
EIF2S1 Geneeukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa The translation initiation factor EIF2 catalyzes the first regulated step of protein synthesis initiation, promoting the binding of the initiator tRNA to 40S ribosomal subunits. Binding occurs as a ternary complex of methionyl-tRNA, EIF2, and GTP. EIF2 is composed of 3 nonidentical subunits, the 36-kD EIF2-alpha subunit (EIF2S1), the 38-kD EIF2-beta subunit (EIF2S2; MIM 603908), and the 52-kD EIF2-gamma subunit (EIF2S3; MIM 300161). The rate of formation of the ternary complex is modulated by the phosphorylation state of EIF2-alpha (Ernst et al., 1987 [PubMed 2948954]).[supplied by OMIM, Feb 2010] |
LOC102724035 GeneNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene |
EEF1A1P42 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 42 |
EEF1A1P43 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 43 |
LOC280665 Geneanti-CNG alpha 1 cation channel translation product-like |
COL25A1 Genecollagen, type XXV, alpha 1 This gene encodes a brain-specific membrane associated collagen. A product of proteolytic processing of the encoded protein, CLAC (collagenous Alzheimer amyloid plaque component), binds to amyloid beta-peptides found in Alzheimer amyloid plaques but CLAC inhibits rather than facilitates amyloid fibril elongation (PMID: 16300410). A study of over-expression of this collagen in mice, however, found changes in pathology and behavior suggesting that the encoded protein may promote amyloid plaque formation (PMID: 19548013). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] |
IGHA2 Geneimmunoglobulin heavy constant alpha 2 (A2m marker) Contributes to immunoglobulin receptor binding activity. Involved in glomerular filtration and positive regulation of respiratory burst. Located in extracellular space. Part of monomeric IgA immunoglobulin complex and secretory dimeric IgA immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHA1 Geneimmunoglobulin heavy constant alpha 1 Contributes to immunoglobulin receptor binding activity. Involved in glomerular filtration and positive regulation of respiratory burst. Located in extracellular space. Part of monomeric IgA immunoglobulin complex and secretory dimeric IgA immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
FARSA Genephenylalanyl-tRNA synthetase, alpha subunit Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. This gene encodes a product which is similar to the catalytic subunit of prokaryotic and Saccharomyces cerevisiae phenylalanyl-tRNA synthetases (PheRS). This gene product has been shown to be expressed in a tumor-selective and cell cycle stage- and differentiation-dependent manner, the first member of the tRNA synthetase gene family shown to exhibit this type of regulated expression [provided by RefSeq, Jul 2008] |
IL23A Geneinterleukin 23, alpha subunit p19 This gene encodes a subunit of the heterodimeric cytokine interleukin 23 (IL23). IL23 is composed of this protein and the p40 subunit of interleukin 12 (IL12B). The receptor of IL23 is formed by the beta 1 subunit of IL12 (IL12RB1) and an IL23 specific subunit, IL23R. Both IL23 and IL12 can activate the transcription activator STAT4, and stimulate the production of interferon-gamma (IFNG). In contrast to IL12, which acts mainly on naive CD4(+) T cells, IL23 preferentially acts on memory CD4(+) T cells. [provided by RefSeq, Jul 2008] |
LOC100653395 Genemethionine adenosyltransferase II, alpha pseudogene |
TOP2A Genetopoisomerase (DNA) II alpha 170kDa This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, alpha, is localized to chromosome 17 and the beta gene is localized to chromosome 3. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. [provided by RefSeq, Jul 2010] |
SGCA Genesarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) This gene encodes a component of the dystrophin-glycoprotein complex (DGC), which is critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Its expression is thought to be restricted to striated muscle. Mutations in this gene result in type 2D autosomal recessive limb-girdle muscular dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] |
DGKA Genediacylglycerol kinase, alpha 80kDa The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It acts as a modulator that competes with protein kinase C for the second messenger diacylglycerol in intracellular signaling pathways. It also plays an important role in the resynthesis of phosphatidylinositols and phosphorylating diacylglycerol to phosphatidic acid. Several transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Apr 2017] |
TECTA Genetectorin alpha The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals. Alpha-tectorin is one of the major noncollagenous components of the tectorial membrane. Mutations in the TECTA gene have been shown to be responsible for autosomal dominant nonsyndromic hearing impairment and a recessive form of sensorineural pre-lingual non-syndromic deafness. [provided by RefSeq, Jul 2008] |
COL2A1 Genecollagen, type II, alpha 1 This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008] |
LOC100421798 Geneeukaryotic translation elongation factor 1 alpha 2 pseudogene |
TTPAL Genetocopherol (alpha) transfer protein-like Predicted to enable phosphatidylinositol bisphosphate binding activity. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025] |
NAA40 GeneN(alpha)-acetyltransferase 40, NatD catalytic subunit Enables histone H2A acetyltransferase activity; histone H4 acetyltransferase activity; and peptide-serine-alpha-N-acetyltransferase activity. Predicted to be involved in chromatin remodeling. Predicted to act upstream of or within lipid metabolic process. Located in centriolar satellite; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
HSP90AB7P Geneheat shock protein 90kDa alpha (cytosolic), class B member 7, pseudogene |
FUT11 Genefucosyltransferase 11 (alpha (1,3) fucosyltransferase) Enables fucosyltransferase activity. Involved in N-glycan fucosylation. Predicted to be located in Golgi cisterna membrane and Golgi membrane. Implicated in stomach cancer. Biomarker of stomach cancer. [provided by Alliance of Genome Resources, Mar 2025] |
FUT10 Genefucosyltransferase 10 (alpha (1,3) fucosyltransferase) Enables fucosyltransferase activity. Involved in N-glycan fucosylation. Located in Golgi apparatus; endoplasmic reticulum; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
DEFA8P Genedefensin, alpha 8 pseudogene |
CHRNA10 Genecholinergic receptor, nicotinic, alpha 10 (neuronal) Predicted to enable acetylcholine-gated monoatomic cation-selective channel activity. Acts upstream of or within positive regulation of cytosolic calcium ion concentration. Predicted to be located in membrane. Predicted to be part of transmembrane transporter complex. Predicted to be active in cholinergic synapse; neuron projection; and postsynaptic specialization membrane. [provided by Alliance of Genome Resources, Mar 2025] |
CSN1S2BP Genecasein alpha s2-like B, pseudogene This locus is found in a cluster of casein genes, similar to other mammals. In human, the potential open reading frame that matches the homologous protein from other species is prematurely truncated shortly after the signal peptide. Therefore, this locus appears to be a pseudogene. [provided by RefSeq, Feb 2010] |
RXRA Generetinoid X receptor, alpha Retinoid X receptors (RXRs) and retinoic acid receptors (RARs) are nuclear receptors that mediate the biological effects of retinoids by their involvement in retinoic acid-mediated gene activation. These receptors function as transcription factors by binding as homodimers or heterodimers to specific sequences in the promoters of target genes. The protein encoded by this gene is a member of the steroid and thyroid hormone receptor superfamily of transcriptional regulators. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014] |
AZGP1P2 Genealpha-2-glycoprotein 1, zinc-binding pseudogene 2 |
SCN8A Genesodium channel, voltage gated, type VIII alpha subunit This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with cognitive disability, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010] |
LOC100422633 GeneALG11, alpha-1,2-mannosyltransferase pseudogene |
ITIH1 Geneinter-alpha-trypsin inhibitor heavy chain 1 This gene encodes a member of the inter-alpha-trypsin inhibitor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the heavy chain of the inter-alpha-trypsin inhibitor complex, which is secreted by hepatocytes into the blood. The heavy chain also interacts with hyaluronan, and this interaction may play a role in ovulation and fertilization, and has been implicated in multiple inflammatory diseases. This gene is present in a gene cluster on chromosome 3. [provided by RefSeq, Nov 2015] |
ITIH3 Geneinter-alpha-trypsin inhibitor heavy chain 3 This gene encodes the heavy chain subunit of the pre-alpha-trypsin inhibitor complex. This complex may stabilize the extracellular matrix through its ability to bind hyaluronic acid. Polymorphisms of this gene may be associated with increased risk for schizophrenia and major depressive disorder. This gene is present in an inter-alpha-trypsin inhibitor family gene cluster on chromosome 3. [provided by RefSeq, Jul 2015] |
ITIH2 Geneinter-alpha-trypsin inhibitor heavy chain 2 The inter-alpha-trypsin inhibitors (ITI) are a family of structurally related plasma serine protease inhibitors involved in extracellular matrix stabilization and in prevention of tumor metastasis. The ITI family contains multiple proteins made up of a light chain (see MIM 176870) and a variable number of heavy chains (Salier et al., 1987 [PubMed 2446322]; Himmelfarb et al., 2004 [PubMed 14744536]).[supplied by OMIM, Nov 2009] |
ITIH5 Geneinter-alpha-trypsin inhibitor heavy chain family, member 5 This gene encodes a heavy chain component of one of the inter-alpha-trypsin inhibitor (ITI) family members. ITI proteins are involved in extracellular matrix stabilization and in the prevention of tumor metastasis. They are also structurally related plasma serine protease inhibitors and are composed of a light chain and varying numbers of heavy chains. This family member is thought to function as a tumor suppressor in breast and thyroid cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] |
ITIH4 Geneinter-alpha-trypsin inhibitor heavy chain family, member 4 The protein encoded by this gene is secreted into the blood, where it is cleaved by plasma kallikrein into two smaller forms. Expression of this gene has been detected only in liver, and it seems to be upregulated during surgical trauma. This gene is part of a cluster of similar genes on chromosome 3. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] |
ITIH6 Geneinter-alpha-trypsin inhibitor heavy chain family, member 6 The protein encoded by this gene belongs to the interalpha trypsin inhibitor heavy chain (ITIH) family. Interalpha trypsin inhibitor (ITI) is composed of two heavy chains (containing VWA domain) and one light chain. The light chain confers the protease-inhibitor function, while the heavy chains are involved in mediating protein-protein interactions with the components of the extracellular matrix. [provided by RefSeq, Sep 2009] |
IFNA6 Geneinterferon, alpha 6 Predicted to enable cytokine activity and type I interferon receptor binding activity. Predicted to be involved in several processes, including lymphocyte activation involved in immune response; response to exogenous dsRNA; and type I interferon-mediated signaling pathway. Predicted to be located in extracellular region. Predicted to be active in extracellular space. Biomarker of anogenital venereal wart. [provided by Alliance of Genome Resources, Mar 2025] |
CRYAA Genecrystallin, alpha A Mammalian lens crystallins are divided into alpha, beta, and gamma families. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of the small heat shock protein (HSP20) family. They act as molecular chaperones although they do not renature proteins and release them in the fashion of a true chaperone; instead they hold them in large soluble aggregates. Post-translational modifications decrease the ability to chaperone. These heterogeneous aggregates consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. Two additional functions of alpha crystallins are an autokinase activity and participation in the intracellular architecture. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alpha-A and alpha-B gene products are differentially expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. Defects in this gene cause autosomal dominant congenital cataract (ADCC). [provided by RefSeq, Jan 2014] |
CAPZA1P Genecapping protein (actin filament) muscle Z-line, alpha 1 pseudogene |
CSNK2A3 Genecasein kinase 2, alpha 3 polypeptide This gene encodes a protein that is highly similar to the casein kinase II alpha protein. Casein kinase II is a serine/threonine protein kinase complex that phosphorylates numerous substrates including casein. The alpha subunit is the catalytic component of the complex. Mutations in this gene may be associated with a susceptibility to lung cancer. There are contradictory views among published reports of this gene as to whether or not it is a protein-coding gene or a processed pseudogene (PMIDs: 20625391, 20625391 and 10094393). [provided by RefSeq, Feb 2012] |
CSNK2A2 Genecasein kinase 2, alpha prime polypeptide This gene encodes the alpha', or alpha 2, catalytic subunit of the protein kinase enzyme, casein kinase 2 (CK2). Casein kinase 2 is a serine/threonine protein kinase that phosphorylates acidic proteins such as casein. It is involved in various cellular processes, including cell cycle control, apoptosis, and circadian rhythms. This heterotetrameric kinase includes two catalytic subunits, either alpha or alpha', and two regulatory beta subunits. The closely related gene paralog encoding the alpha, or alpha 1 subunit (CSNK2A1, Gene ID: 1457) is found on chromosome 20. An intronic variant in this gene (alpha 2) may be associated with leukocyte telomere length in a South Asian population. A related transcribed pseudogene is found on chromosome 11. [provided by RefSeq, Aug 2017] |
CSNK2A1 Genecasein kinase 2, alpha 1 polypeptide Casein kinase II is a serine/threonine protein kinase that phosphorylates acidic proteins such as casein. It is involved in various cellular processes, including cell cycle control, apoptosis, and circadian rhythm. The kinase exists as a tetramer and is composed of an alpha, an alpha-prime, and two beta subunits. The alpha subunits contain the catalytic activity while the beta subunits undergo autophosphorylation. The protein encoded by this gene represents the alpha subunit. Multiple transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Apr 2018] |
ATP1A4 GeneATPase, Na+/K+ transporting, alpha 4 polypeptide The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining 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 inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 4 subunit. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] |
ATP1A3 GeneATPase, Na+/K+ transporting, alpha 3 polypeptide The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining 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 inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] |
ATP1A2 GeneATPase, Na+/K+ transporting, alpha 2 polypeptide The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining 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 inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 2 subunit. Mutations in this gene result in familial basilar or hemiplegic migraines, and in a rare syndrome known as alternating hemiplegia of childhood. [provided by RefSeq, Oct 2008] |
ATP1A1 GeneATPase, Na+/K+ transporting, alpha 1 polypeptide The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining 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 inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 1 subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] |
NAALAD2 GeneN-acetylated alpha-linked acidic dipeptidase 2 This gene is a member of the N-acetylated alpha-linked acidic dipeptidase (NAALADase) gene family. The representative member of this family is the gene encoding human prostate-specific membrane antigen (PSM), which is a marker of prostatic carcinomas and is the first to be shown to possess NAALADase activity. NAALADase cleaves N-acetyl-L-aspartate-L-glutamate (NAAG), which is a neuropeptide expressed both in the central nervous systems and in the periphery and is thought to function as a neurotransmitter. The product of this gene is a type II integral membrane protein. Transient transfection of this gene confers both NAALADase and dipetidyl peptidase IV activities to mammalian cells. This gene is highly expressed in ovary and testis as well as within discrete brain areas. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] |
LOC100422287 Geneproteasome (prosome, macropain) subunit, alpha type, 3 pseudogene |
LOC100422286 Geneproteasome (prosome, macropain) subunit, alpha type, 1 pseudogene |
HLA-DPA1 Genemajor histocompatibility complex, class II, DP alpha 1 HLA-DPA1 belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta (DPB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the cytoplasmic tail. Within the DP molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. [provided by RefSeq, Jul 2008] |
HLA-DPA3 Genemajor histocompatibility complex, class II, DP alpha 3 (pseudogene) |
HLA-DPA2 Genemajor histocompatibility complex, class II, DP alpha 2 (pseudogene) |
PSMA3P Geneproteasome (prosome, macropain) subunit, alpha type, 3 pseudogene |
IL2RA Geneinterleukin 2 receptor, alpha The interleukin 2 (IL2) receptor alpha (IL2RA) and beta (IL2RB) chains, together with the common gamma chain (IL2RG), constitute the high-affinity IL2 receptor. Homodimeric alpha chains (IL2RA) result in low-affinity receptor, while homodimeric beta (IL2RB) chains produce a medium-affinity receptor. Normally an integral-membrane protein, soluble IL2RA has been isolated and determined to result from extracellular proteolyisis. Alternately-spliced IL2RA mRNAs have been isolated, but the significance of each is presently unknown. Mutations in this gene are associated with interleukin 2 receptor 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 in their plasma. Similarly, serum IL-2R levels are found to be elevated in patients with different types of carcinomas. Certain IL2RA and IL2RB gene polymorphisms have been associated with lung cancer risk. [provided by RefSeq, Jul 2020] |
LOC101060022 Genenascent polypeptide-associated complex subunit alpha, muscle-specific form-like |
EEF1A1P34 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 34 |
EEF1A1P37 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 37 |
EEF1A1P32 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 32 |
PRKAA2 Geneprotein kinase, AMP-activated, alpha 2 catalytic subunit The protein encoded by this gene is a catalytic subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. Studies of the mouse counterpart suggest that this catalytic subunit may control whole-body insulin sensitivity and is necessary for maintaining myocardial energy homeostasis during ischemia. [provided by RefSeq, Jul 2008] |
PRKAA1 Geneprotein kinase, AMP-activated, alpha 1 catalytic subunit The protein encoded by this gene belongs to the ser/thr protein kinase family. It is the catalytic subunit of the 5'-prime-AMP-activated protein kinase (AMPK). AMPK is a cellular energy sensor conserved in all eukaryotic cells. The kinase activity of AMPK is activated by the stimuli that increase the cellular AMP/ATP ratio. AMPK regulates the activities of a number of key metabolic enzymes through phosphorylation. It protects cells from stresses that cause ATP depletion by switching off ATP-consuming biosynthetic pathways. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] |
SAMD11P1 Genesterile alpha motif domain containing 11 pseudogene 1 |
LOC100129818 Genetubulin, alpha 1a pseudogene |
MANEAL Genemannosidase, endo-alpha-like Predicted to enable alpha-mannosidase activity. Predicted to be located in Golgi membrane. [provided by Alliance of Genome Resources, Mar 2025] |
GNAZ Geneguanine nucleotide binding protein (G protein), alpha z polypeptide The protein encoded by this gene is a member of a G protein subfamily that mediates signal transduction in pertussis toxin-insensitive systms. This encoded protein may play a role in maintaining the ionic balance of perilymphatic and endolymphatic cochlear fluids. [provided by RefSeq, Jul 2008] |
GNAL Geneguanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type This gene encodes a stimulatory G protein alpha subunit which mediates odorant signaling in the olfactory epithelium. This protein couples dopamine type 1 receptors and adenosine A2A receptors and is widely expressed in the central nervous system. Mutations in this gene have been associated with dystonia 25 and this gene is located in a susceptibility region for bipolar disorder and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] |
LOC101929301 Genecollagen alpha-1(I) chain-like |
NAA11 GeneN(alpha)-acetyltransferase 11, NatA catalytic subunit Enables peptide alpha-N-acetyltransferase activity. Involved in N-terminal protein amino acid acetylation. Located in several cellular components, including Golgi apparatus; centrosome; and nucleoplasm. Part of NatA complex. [provided by Alliance of Genome Resources, Mar 2025] |
IDUA Geneiduronidase, alpha-L- This gene encodes an enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. This hydrolysis is required for the lysosomal degradation of these glycosaminoglycans. Mutations in this gene that result in enzymatic deficiency lead to the autosomal recessive disease mucopolysaccharidosis type I (MPS I). [provided by RefSeq, Jul 2008] |
NAPA GeneN-ethylmaleimide-sensitive factor attachment protein, alpha This gene encodes a member of the soluble NSF attachment protein (SNAP) family. SNAP proteins play a critical role in the docking and fusion of vesicles to target membranes as part of the 20S NSF-SNAP-SNARE complex. The encoded protein plays a role in the completion of membrane fusion by mediating the interaction of N-ethylmaleimide-sensitive factor (NSF) with the vesicle-associated and membrane-associated SNAP receptor (SNARE) complex, and stimulating the ATPase activity of NSF. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jun 2011] |
COL15A1 Genecollagen, type XV, alpha 1 This gene encodes the alpha chain of type XV collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Type XV collagen has a wide tissue distribution but the strongest expression is localized to basement membrane zones so it may function to adhere basement membranes to underlying connective tissue stroma. The proteolytically produced C-terminal fragment of type XV collagen is restin, a potentially antiangiogenic protein that is closely related to endostatin. Mouse studies have shown that collagen XV deficiency is associated with muscle and microvessel deterioration. [provided by RefSeq, May 2013] |
GJA1P1 Genegap junction protein, alpha 1, 43kDa pseudogene 1 |
LOC101928892 Genenascent polypeptide-associated complex subunit alpha, muscle-specific form-like |
LOC105377821 Genecollagen alpha-2(I) chain-like |
LOC100132857 Geneheat shock protein 90kDa alpha (cytosolic), class B member 1 pseudogene |
SERPINA13P Geneserpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13, pseudogene Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025] |
IFI6 Geneinterferon, alpha-inducible protein 6 This gene was first identified as one of the many genes induced by interferon. The encoded protein may play a critical role in the regulation of apoptosis. A minisatellite that consists of 26 repeats of a 12 nucleotide repeating element resembling the mammalian splice donor consensus sequence begins near the end of the second exon. Alternatively spliced transcript variants that encode different isoforms by using the two downstream repeat units as splice donor sites have been described. [provided by RefSeq, Jul 2008] |
LRSAM1 Geneleucine rich repeat and sterile alpha motif containing 1 This gene encodes a ring finger protein involved in a variety of functions, including regulation of signaling pathways and cell adhesion, mediation of self-ubiquitylation, and involvement in cargo sorting during receptor endocytosis. Mutations in this gene have been associated with Charcot-Marie-Tooth disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jan 2012] |
ENSA Geneendosulfine alpha The protein encoded by this gene belongs to a highly conserved cAMP-regulated phosphoprotein (ARPP) family. This protein was identified as an endogenous ligand for the sulfonylurea receptor, ABCC8/SUR1. ABCC8 is the regulatory subunit of the ATP-sensitive potassium (KATP) channel, which is located on the plasma membrane of pancreatic beta cells and plays a key role in the control of insulin release from pancreatic beta cells. This protein is thought to be an endogenous regulator of KATP channels. In vitro studies have demonstrated that this protein modulates insulin secretion through the interaction with KATP channel, and this gene has been proposed as a candidate gene for type 2 diabetes. At least eight alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] |
GSTA11P Geneglutathione S-transferase alpha 11, pseudogene |
LOC105379421 Genecollagen alpha-1(III) chain-like |
GSTA9P Geneglutathione S-transferase alpha 9, pseudogene |
SGTA Genesmall glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha This gene encodes a protein which is capable of interacting with the major nonstructural protein of parvovirus H-1 and 70-kDa heat shock cognate protein; however, its function is not known. Since this transcript is expressed ubiquitously in various tissues, this protein may serve a housekeeping function. [provided by RefSeq, Jul 2008] |
ACTN4P1 Geneactinin, alpha 4 pseudogene 1 |
DTNA Genedystrobrevin, alpha The protein encoded by this gene belongs to the dystrobrevin subfamily of the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC), which consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Mutations in this gene are associated with left ventricular noncompaction with congenital heart defects. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] |
LOC101059958 Genecollagen alpha-1(II) chain-like |
LOC100419079 Genetubulin, alpha 1c pseudogene |
RALGAPA1P GeneRal GTPase activating protein, alpha subunit 1 (catalytic) pseudogene |
TNFAIP8 Genetumor necrosis factor, alpha-induced protein 8 Enables cysteine-type endopeptidase inhibitor activity involved in apoptotic process. Involved in positive regulation of apoptotic process. Located in cytoplasm and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
A1BG Genealpha-1-B glycoprotein The protein encoded by this gene is a plasma glycoprotein of unknown function. The protein shows sequence similarity to the variable regions of some immunoglobulin supergene family member proteins. [provided by RefSeq, Jul 2008] |
TTPA Genetocopherol (alpha) transfer protein This gene encodes a soluble protein that binds alpha-trocopherol, a form of vitamin E, with high selectivity and affinity. This protein plays an important role in regulating vitamin E levels in the body by transporting vitamin E between membrane vesicles and facilitating the secretion of vitamin E from hepatocytes to circulating lipoproteins. Mutations in this gene cause hereditary vitamin E deficiency (ataxia with vitamin E deficiency, AVED) and retinitis pigmentosa. [provided by RefSeq, Nov 2009] |
GABPA GeneGA binding protein transcription factor, alpha subunit 60kDa This gene encodes one of three GA-binding protein transcription factor subunits which functions as a DNA-binding subunit. Since this subunit shares identity with a subunit encoding the nuclear respiratory factor 2 gene, it is likely involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. This subunit also shares identity with a subunit constituting the transcription factor E4TF1, responsible for expression of the adenovirus E4 gene. Because of its chromosomal localization and ability to form heterodimers with other polypeptides, this gene may play a role in the Down Syndrome phenotype. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2010] |
SERPINF1 Geneserpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 This gene encodes a member of the serpin family that does not display the serine protease inhibitory activity shown by many of the other serpin proteins. The encoded protein is secreted and strongly inhibits angiogenesis. In addition, this protein is a neurotrophic factor involved in neuronal differentiation in retinoblastoma cells. Mutations in this gene were found in individuals with osteogenesis imperfecta, type VI. [provided by RefSeq, Aug 2016] |
SERPINF2 Geneserpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 This gene encodes a member of the serpin family of serine protease inhibitors. The protein is a major inhibitor of plasmin, which degrades fibrin and various other proteins. Consequently, the proper function of this gene has a major role in regulating the blood clotting pathway. Mutations in this gene result in alpha-2-plasmin inhibitor deficiency, which is characterized by severe hemorrhagic diathesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] |
GADD45AP1 Genegrowth arrest and DNA-damage-inducible, alpha pseudogene 1 |
GANAB Geneglucosidase, alpha; neutral AB This gene encodes the alpha subunit of glucosidase II and a member of the glycosyl hydrolase 31 family of proteins. The heterodimeric enzyme glucosidase II plays a role in protein folding and quality control by cleaving glucose residues from immature glycoproteins in the endoplasmic reticulum. Expression of the encoded protein is elevated in lung tumor tissue and in response to UV irradiation. Mutations in this gene cause autosomal-dominant polycystic kidney and liver disease. [provided by RefSeq, Jul 2016] |
GLRA3 Geneglycine receptor, alpha 3 This gene encodes a member of the ligand-gated ion channel protein family. The encoded protein is a member of the glycine receptor subfamily. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013] |
GLRA2 Geneglycine receptor, alpha 2 The glycine receptor consists of two subunits, alpha and beta, and acts as a pentamer. The protein encoded by this gene is an alpha subunit and can bind strychnine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010] |
GLRA4 Geneglycine receptor, alpha 4 This gene encodes a glycine receptor and member of the ligand-gated ion channel family of proteins. The encoded protein is missing the fourth transmembrane region compared to related proteins in mouse and rat, and experimental data suggests that the human protein is functionally inactive. However, there is strong evidence to support transcription of this gene. As a result, RefSeq, in collaboration with Ensembl-GENCODE, has determined that this locus is best described as a transcribed pseudogene. [provided by RefSeq, Aug 2019] |
PPP2R3A Geneprotein phosphatase 2, regulatory subunit B'', alpha This gene encodes one of the regulatory subunits of the protein phosphatase 2. Protein phosphatase 2 (formerly named type 2A) is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2 holoenzymes are heterotrimeric proteins 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 into the B/PR55, B'/PR61, and B''/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B'' family. The B'' family has been further divided into subfamilies. The product of this gene belongs to the alpha subfamily of regulatory subunit B''. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Jun 2010] |
STRADA GeneSTE20-related kinase adaptor alpha The protein encoded by this gene contains a STE20-like kinase domain, but lacks several residues that are critical for catalytic activity, so it is termed a 'pseudokinase'. The protein forms a heterotrimeric complex with serine/threonine kinase 11 (STK11, also known as LKB1) and the scaffolding protein calcium binding protein 39 (CAB39, also known as MO25). The protein activates STK11 leading to the phosphorylation of both proteins and excluding STK11 from the nucleus. The protein is necessary for STK11-induced G1 cell cycle arrest. A mutation in this gene has been shown to result in polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described but their full-length nature is not known. [provided by RefSeq, Sep 2009] |
TPM1 Genetropomyosin 1 (alpha) This gene is a member of the tropomyosin family of highly conserved, widely distributed actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosin is composed of two alpha-helical chains arranged as a coiled-coil. It is polymerized end to end along the two grooves of actin filaments and provides stability to the filaments. The encoded protein is one type of alpha helical chain that forms the predominant tropomyosin of striated muscle, where it also functions in association with the troponin complex to regulate the calcium-dependent interaction of actin and myosin during muscle contraction. In smooth muscle and non-muscle cells, alternatively spliced transcript variants encoding a range of isoforms have been described. Mutations in this gene are associated with type 3 familial hypertrophic cardiomyopathy and dilated cardiomyopathy 1Y. [provided by RefSeq, Jun 2022] |
ETFA Geneelectron-transfer-flavoprotein, alpha polypeptide ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
GNAO1 Geneguanine nucleotide binding protein (G protein), alpha activating activity polypeptide O The protein encoded by this gene represents the alpha subunit of the Go heterotrimeric G-protein signal-transducing complex. Defects in this gene are a cause of early-onset epileptic encephalopathy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015] |
GMFA Geneglia maturation factor, alpha |
ENSAP3 Geneendosulfine alpha pseudogene 3 |
ENSAP2 Geneendosulfine alpha pseudogene 2 |
ENSAP1 Geneendosulfine alpha pseudogene 1 |
GNAT1 Geneguanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in rods. This gene is also expressed in other cells, and has been implicated in bitter taste transduction in rat taste cells. Mutations in this gene result in autosomal dominant congenital stationary night blindness. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2009] |
GNAT3 Geneguanine nucleotide binding protein, alpha transducing 3 Sweet, bitter, and umami tastes are transmitted from taste receptors by a specific guanine nucleotide binding protein. The protein encoded by this gene is the alpha subunit of this heterotrimeric G protein, which is found not only in the oral epithelium but also in gut tissues. Variations in this gene have been linked to metabolic syndrome. [provided by RefSeq, Dec 2015] |
GNAT2 Geneguanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in cones. [provided by RefSeq, Jul 2008] |
PDHA1P1 Genepyruvate dehydrogenase (lipoamide) alpha 1 pseudogene 1 |
CTNNAL1 Genecatenin (cadherin-associated protein), alpha-like 1 Predicted to enable actin filament binding activity and cadherin binding activity. Acts upstream of or within Rho protein signal transduction. Located in cytosol. [provided by Alliance of Genome Resources, Mar 2025] |
LOC105379575 Genecollagen alpha-2(IV) chain-like |
ANKS3 Geneankyrin repeat and sterile alpha motif domain containing 3 Predicted to be located in cytoplasm. Predicted to be active in cilium. [provided by Alliance of Genome Resources, Mar 2025] |
ANKS6 Geneankyrin repeat and sterile alpha motif domain containing 6 This gene encodes a protein containing multiple ankyrin repeats and a SAM domain. It is thought that this protein may localize to the proximal region of the primary cilium, and may play a role in renal and cardiovascular development. Mutations in this gene have been shown to cause a form of nephronophthisis (NPHP16), a chronic tubulo-interstitial nephritis. [provided by RefSeq, Jul 2015] |
INA Geneinternexin neuronal intermediate filament protein, alpha Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene is a member of the intermediate filament family and is involved in the morphogenesis of neurons. [provided by RefSeq, Jun 2009] |
PHKA1P1 Genephosphorylase kinase, alpha 1 pseudogene 1 |
FCGRT GeneFc fragment of IgG, receptor, transporter, alpha This gene encodes a receptor that binds the Fc region of monomeric immunoglobulin G. The encoded protein transfers immunoglobulin G antibodies from mother to fetus across the placenta. This protein also binds immunoglobulin G to protect the antibody from degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] |
TRA2A Genetransformer 2 alpha homolog (Drosophila) This gene is a member of the transformer 2 homolog family and encodes a protein with several RRM (RNA recognition motif) domains. This phosphorylated nuclear protein binds to specific RNA sequences and plays a role in the regulation of pre-mRNA splicing. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013] |
ATP5A1P4 GeneATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 4 |
ATP5A1P5 GeneATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 5 |
ATP5A1P7 GeneATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 7 |
ATP5A1P2 GeneATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 2 |
ATP5A1P3 GeneATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 3 |
ATP5A1P8 GeneATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 8 |
CXCL1 Genechemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) This antimicrobial gene encodes a member of the CXC subfamily of chemokines. The encoded protein is a secreted growth factor that signals through the G-protein coupled receptor, CXC receptor 2. This protein plays a role in inflammation and as a chemoattractant for neutrophils. Aberrant expression of this protein is associated with the growth and progression of certain tumors. A naturally occurring processed form of this protein has increased chemotactic activity. Alternate splicing results in coding and non-coding variants of this gene. A pseudogene of this gene is found on chromosome 4. [provided by RefSeq, Sep 2014] |
NAA16 GeneN(alpha)-acetyltransferase 16, NatA auxiliary subunit Enables ribosome binding activity. Involved in N-terminal protein amino acid acetylation; negative regulation of apoptotic process; and protein stabilization. Located in cytosol. Part of NatA complex. [provided by Alliance of Genome Resources, Mar 2025] |
NAA15 GeneN(alpha)-acetyltransferase 15, NatA auxiliary subunit N-alpha-acetylation is among the most common post-translational protein modifications in eukaryotic cells. This process involves the transfer of an acetyl group from acetyl-coenzyme A to the alpha-amino group on a nascent polypeptide and is essential for normal cell function. This gene encodes the auxillary subunit of the N-terminal acetyltransferase A (NatA) complex. [provided by RefSeq, Jan 2017] |
NAA10 GeneN(alpha)-acetyltransferase 10, NatA catalytic subunit N-alpha-acetylation is among the most common post-translational protein modifications in eukaryotic cells. This process involves the transfer of an acetyl group from acetyl-coenzyme A to the alpha-amino group on a nascent polypeptide and is essential for normal cell function. This gene encodes an N-terminal acetyltransferase that functions as the catalytic subunit of the major amino-terminal acetyltransferase A complex. Mutations in this gene are the cause of Ogden syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012] |
NDUFA6 GeneNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa This gene encodes a member of the LYR family of proteins that contain a highly conserved tripeptide (LYR) motif near the N-terminus. The encoded protein is an accessory subunit of NADH: ubiquinone oxidorerductase (Complex I), which is the largest enzyme of the mitochondrial membrane respiratory chain. Complex I functions in electron transfer from NADH to the respiratory chain. [provided by RefSeq, Oct 2016] |
NDUFA7 GeneNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa This gene encodes a subunit of NADH:ubiquinone oxidoreductase (complex I), which is a multiprotein complex located in the inner mitochondrial membrane. Complex I functions in the transfer of electrons from NADH to the respiratory chain. [provided by RefSeq, Mar 2011] |
NDUFA5 GeneNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 This nuclear gene encodes a conserved protein that comprises the B13 subunit of complex I of the mitochondrial respiratory chain. The encoded protein localizes to the inner mitochondrial membrane, where it is thought to aid in the transfer of electrons from NADH to ubiquinone. Alternative splicing results in multiple transcript variants. There are numerous pseudogenes of this gene on chromosomes 1, 3, 6, 8, 9, 11, 12, and 16. [provided by RefSeq, Apr 2014] |
NDUFA2 GeneNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane, and may be involved in regulating complex I activity or its assembly via assistance in redox processes. Mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] |
NDUFA3 GeneNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa Predicted to enable NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Part of mitochondrial inner membrane and respiratory chain complex I. [provided by Alliance of Genome Resources, Mar 2025] |
NDUFA1 GeneNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa The human NDUFA1 gene codes for an essential component of complex I of the respiratory chain, which transfers electrons from NADH to ubiquinone. It has been noted that the N-terminal hydrophobic domain has the potential to be folded into an alpha-helix spanning the inner mitochondrial membrane with a C-terminal hydrophilic domain interacting with globular subunits of complex I. The highly conserved two-domain structure suggests that this feature is critical for the protein function and might act as an anchor for the NADH:ubiquinone oxidoreductase complex at the inner mitochondrial membrane. However, the NDUFA1 peptide is one of about 31 components of the `hydrophobic protein` (HP) fraction of complex I which is involved in proton translocation. Thus the NDUFA1 peptide may also participate in that function. [provided by RefSeq, Jul 2008] |
NDUFA8 GeneNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa The protein encoded by this gene belongs to the complex I 19 kDa subunit family. Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays an important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015] |
NDUFA9 GeneNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. A pseudogene has been identified on chromosome 12. [provided by RefSeq, May 2010] |
TNFAIP6 Genetumor necrosis factor, alpha-induced protein 6 The protein encoded by this gene is a secretory protein that contains a hyaluronan-binding domain, and thus is a member of the hyaluronan-binding protein family. The hyaluronan-binding domain is known to be involved in extracellular matrix stability and cell migration. This protein has been shown to form a stable complex with inter-alpha-inhibitor (I alpha I), and thus enhance the serine protease inhibitory activity of I alpha I, which is important in the protease network associated with inflammation. This gene can be induced by proinflammatory cytokines such as tumor necrosis factor alpha and interleukin-1. Enhanced levels of this protein are found in the synovial fluid of patients with osteoarthritis and rheumatoid arthritis.[provided by RefSeq, Dec 2010] |
TNFAIP1 Genetumor necrosis factor, alpha-induced protein 1 (endothelial) This gene was identified as a gene whose expression can be induced by the tumor necrosis factor alpha (TNF) in umbilical vein endothelial cells. Studies of a similar gene in mouse suggest that the expression of this gene is developmentally regulated in a tissue-specific manner. [provided by RefSeq, Jul 2008] |
TNFAIP3 Genetumor necrosis factor, alpha-induced protein 3 This gene was identified as a gene whose expression is rapidly induced by the tumor necrosis factor (TNF). The protein encoded by this gene is a zinc finger protein and ubiqitin-editing enzyme, and has been shown to inhibit NF-kappa B activation as well as TNF-mediated apoptosis. The encoded protein, which has both ubiquitin ligase and deubiquitinase activities, is involved in the cytokine-mediated immune and inflammatory responses. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2012] |
TNFAIP2 Genetumor necrosis factor, alpha-induced protein 2 This gene was identified as a gene whose expression can be induced by the tumor necrosis factor alpha (TNF) in umbilical vein endothelial cells. The expression of this gene was shown to be induced by retinoic acid in a cell line expressing a oncogenic version of the retinoic acid receptor alpha fusion protein, which suggested that this gene may be a retinoic acid target gene in acute promyelocytic leukemia. [provided by RefSeq, Jul 2008] |
ATP5A1P10 GeneATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 10 |
COL26A1 Genecollagen, type XXVI, alpha 1 This gene encodes a protein containing an emilin domain and two collagen stretches. This gene may be associated with aspirin-intolerant asthma. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013] |
LOC102724070 GeneNADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 pseudogene |
HEXA Genehexosaminidase A (alpha polypeptide) This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016] |
SCN5A Genesodium channel, voltage gated, type V alpha subunit The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene have been associated with long QT syndrome type 3 (LQT3), atrial fibrillation, cardiomyopathy, and Brugada syndrome 1, all autosomal dominant cardiac diseases. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, May 2022] |
ALPK2 Genealpha-kinase 2 Predicted to enable ATP binding activity; protein serine kinase activity; and protein serine/threonine kinase activity. Involved in several processes, including epicardium morphogenesis; heart development; and negative regulation of Wnt signaling pathway involved in heart development. Acts upstream of or within regulation of gene expression. Located in basolateral plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
IFNA12P Geneinterferon, alpha 12, pseudogene |
RALGAPA2 GeneRal GTPase activating protein, alpha subunit 2 (catalytic) Predicted to enable GTPase activator activity and protein heterodimerization activity. Predicted to be involved in activation of GTPase activity. Predicted to act upstream of or within Ral protein signal transduction; regulation of exocyst localization; and regulation of protein localization. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
LOC100132812 Genenascent polypeptide-associated complex alpha subunit 2 pseudogene |
LOC105371095 Genecollagen alpha-3(IX) chain-like |
NAGA GeneN-acetylgalactosaminidase, alpha- NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of Schindler disease types I and II (type II also known as Kanzaki disease). [provided by RefSeq, Jul 2008] |
MAN1A2P1 Genemannosidase, alpha, class 1A, member 2 pseudogene 1 |
MAN1B1 Genemannosidase, alpha, class 1B, member 1 This gene encodes an enzyme belonging to the glycosyl hydrolase 47 family. This enzyme functions in N-glycan biosynthesis, and is a class I alpha-1,2-mannosidase that specifically converts Man9GlcNAc to Man8GlcNAc isomer B. It is required for N-glycan trimming to Man5-6GlcNAc2 in the endoplasmic-reticulum-associated degradation pathway. Mutations in this gene cause autosomal-recessive intellectual disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Dec 2011] |
GABRA5 Genegamma-aminobutyric acid (GABA) A receptor, alpha 5 GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Transcript variants utilizing three different alternative non-coding first exons have been described. [provided by RefSeq, Jul 2008] |
GABRA4 Genegamma-aminobutyric acid (GABA) A receptor, alpha 4 Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. This gene encodes subunit alpha-4, which is involved in the etiology of autism and eventually increases autism risk through interaction with another subunit, gamma-aminobutyric acid receptor beta-1 (GABRB1). Alternatively spliced transcript variants encoding different isoforms have been found in this gene.[provided by RefSeq, Feb 2011] |
GABRA6 Genegamma-aminobutyric acid (GABA) A receptor, alpha 6 GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. [provided by RefSeq, Jul 2008] |
GABRA1 Genegamma-aminobutyric acid (GABA) A receptor, alpha 1 This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] |
GABRA3 Genegamma-aminobutyric acid (GABA) A receptor, alpha 3 GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. [provided by RefSeq, Jul 2008] |
GABRA2 Genegamma-aminobutyric acid (GABA) A receptor, alpha 2 GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013] |
HSP90AB4P Geneheat shock protein 90kDa alpha (cytosolic), class B member 4, pseudogene Predicted to enable ATP binding activity; ATP hydrolysis activity; and unfolded protein binding activity. Predicted to be involved in cellular response to heat; protein folding; and protein stabilization. Predicted to be located in cytoplasm. Predicted to be part of protein-containing complex. Predicted to be active in cytosol; perinuclear region of cytoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
ADH1A Genealcohol dehydrogenase 1A (class I), alpha polypeptide This gene encodes a member of the alcohol dehydrogenase family. The encoded protein is the alpha subunit of class I alcohol dehydrogenase, which consists of several homo- and heterodimers of alpha, beta and gamma subunits. Alcohol dehydrogenases catalyze the oxidation of alcohols to aldehydes. This gene is active in the liver in early fetal life but only weakly active in adult liver. This gene is found in a cluster with six additional alcohol dehydrogenase genes, including those encoding the beta and gamma subunits, on the long arm of chromosome 4. Mutations in this gene may contribute to variation in certain personality traits and substance dependence. [provided by RefSeq, Nov 2010] |
PSMA6P3 Geneproteasome (prosome, macropain) subunit, alpha type, 6 pseudogene 3 |
ESRRA Geneestrogen-related receptor alpha The protein encoded by this gene is a nuclear receptor that is most closely related to the estrogen receptor. This protein acts as a site-specific transcription factor and interacts with members of the PGC-1 family of transcription cofactors to regulate the expression of most genes involved in cellular energy production as well as in the process of mitochondrial biogenesis. A processed pseudogene of ESRRA is located on chromosome 13q12.1. [provided by RefSeq, Jun 2019] |
LOC100422294 Genecapping protein (actin filament) muscle Z-line, alpha 1 pseudogene |
LRG1 Geneleucine-rich alpha-2-glycoprotein 1 The leucine-rich repeat (LRR) family of proteins, including LRG1, have been shown to be involved in protein-protein interaction, signal transduction, and cell adhesion and development. LRG1 is expressed during granulocyte differentiation (O'Donnell et al., 2002 [PubMed 12223515]).[supplied by OMIM, Mar 2008] |
COL8A2 Genecollagen, type VIII, alpha 2 This gene encodes the alpha 2 chain of type VIII collagen. This protein is a major component of the basement membrane of the corneal endothelium and forms homo- or heterotrimers with alpha 1 (VIII) type collagens. Defects in this gene are associated with Fuchs endothelial corneal dystrophy and posterior polymorphous corneal dystrophy type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] |
COL8A1 Genecollagen, type VIII, alpha 1 This gene encodes one of the two alpha chains of type VIII collagen. The gene product is a short chain collagen and a major component of the basement membrane of the corneal endothelium. The type VIII collagen fibril can be either a homo- or a heterotrimer. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Dec 2011] |
NDUFA5P5 GeneNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 5 |
NDUFA5P4 GeneNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 4 |
NDUFA5P6 GeneNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 6 |
NDUFA5P1 GeneNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 1 |
NDUFA5P3 GeneNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 3 |
DRAP1 GeneDR1-associated protein 1 (negative cofactor 2 alpha) Transcriptional repression is a general mechanism for regulating transcriptional initiation in organisms ranging from yeast to humans. Accurate initiation of transcription from eukaryotic protein-encoding genes requires the assembly of a large multiprotein complex consisting of RNA polymerase II and general transcription factors such as TFIIA, TFIIB, and TFIID. DR1 is a repressor that interacts with the TATA-binding protein (TBP) of TFIID and prevents the formation of an active transcription complex by precluding the entry of TFIIA and/or TFIIB into the preinitiation complex. The protein encoded by this gene is a corepressor of transcription that interacts with DR1 to enhance DR1-mediated repression. The interaction between this corepressor and DR1 is required for corepressor function and appears to stabilize the TBP-DR1-DNA complex. [provided by RefSeq, Jul 2008] |
COL16A1 Genecollagen, type XVI, alpha 1 This gene encodes the alpha chain of type XVI collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. High levels of type XVI collagen have been found in fibroblasts and keratinocytes, and in smooth muscle and amnion. [provided by RefSeq, Jul 2008] |
CACNA1H Genecalcium channel, voltage-dependent, T type, alpha 1H subunit This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq, Jul 2008] |
CACNA1I Genecalcium channel, voltage-dependent, T type, alpha 1I subunit This gene encodes the pore-forming alpha subunit of a voltage gated calcium channel. The encoded protein is a member of a subfamily of calcium channels referred to as is a low voltage-activated, T-type, calcium channel. The channel encoded by this protein is characterized by a slower activation and inactivation compared to other T-type calcium channels. This protein may be involved in calcium signaling in neurons. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011] |
CACNA1A Genecalcium channel, voltage-dependent, P/Q type, alpha 1A subunit Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Jul 2016] |
CACNA1B Genecalcium channel, voltage-dependent, N type, alpha 1B subunit The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-voltage activated channel. This channel is sensitive to omega-conotoxin-GVIA and omega-agatoxin-IIIA but insensitive to dihydropyridines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] |
CACNA1C Genecalcium channel, voltage-dependent, L type, alpha 1C subunit This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012] |
CACNA1D Genecalcium channel, voltage-dependent, L type, alpha 1D subunit Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, namely alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1D subunit. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] |
CACNA1E Genecalcium channel, voltage-dependent, R type, alpha 1E subunit Voltage-dependent calcium channels are multisubunit complexes consisting of alpha-1, alpha-2, beta, and delta subunits in a 1:1:1:1 ratio. These channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This gene encodes the alpha-1E subunit of the R-type calcium channels, which belong to the 'high-voltage activated' group that maybe involved in the modulation of firing patterns of neurons important for information processing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011] |
CACNA1F Genecalcium channel, voltage-dependent, L type, alpha 1F subunit This gene encodes a multipass transmembrane protein that functions as an alpha-1 subunit of the voltage-dependent calcium channel, which mediates the influx of calcium ions into the cell. The encoded protein forms a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Mutations in this gene can cause X-linked eye disorders, including congenital stationary night blindness type 2A, cone-rod dystropy, and Aland Island eye disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2013] |
LOC105373982 Genecollagen alpha-1(III) chain-like |
HIF1A Genehypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) This gene encodes the alpha subunit of transcription factor hypoxia-inducible factor-1 (HIF-1), which is a heterodimer composed of an alpha and a beta subunit. HIF-1 functions as a master regulator of cellular and systemic homeostatic response to hypoxia by activating transcription of many genes, including those involved in energy metabolism, angiogenesis, apoptosis, and other genes whose protein products increase oxygen delivery or facilitate metabolic adaptation to hypoxia. HIF-1 thus plays an essential role in embryonic vascularization, tumor angiogenesis and pathophysiology of ischemic disease. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2011] |
LOC100130704 Genecapping protein (actin filament) muscle Z-line, alpha 1 pseudogene |
RALGAPA1 GeneRal GTPase activating protein, alpha subunit 1 (catalytic) This gene encodes a major subunit of the RAL-GTPase activating protein. A similar protein in mouse binds E12, a transcriptional regulator of immunoglobulin genes. The mouse protein also functions in skeletal muscle by binding to the regulatory 14-3-3 proteins upon stimulation with insulin or muscle contraction. A pseudogene of this gene has been identified on chromosome 9. [provided by RefSeq, Oct 2016] |
ACTN4P2 Geneactinin, alpha 4 pseudogene 2 |
HBA1 Genehemoglobin, alpha 1 The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008] |
HADHA Genehydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. [provided by RefSeq, Jul 2008] |
LOC645938 Genecapping protein (actin filament) muscle Z-line, alpha 1 pseudogene |
EDEM2 GeneER degradation enhancer, mannosidase alpha-like 2 In the endoplasmic reticulum (ER), misfolded proteins are retrotranslocated to the cytosol and degraded by the proteasome in a process known as ER-associated degradation (ERAD). EDEM2 belongs to a family of proteins involved in ERAD of glycoproteins (Mast et al., 2005 [PubMed 15537790]).[supplied by OMIM, Mar 2008] |
EDEM3 GeneER degradation enhancer, mannosidase alpha-like 3 Quality control in the endoplasmic reticulum (ER) ensures that only properly folded proteins are retained in the cell through recognition and degradation of misfolded or unassembled proteins. EDEM3 belongs to a group of proteins that accelerate degradation of misfolded glycoproteins in the ER (Hirao et al., 2006 [PubMed 16431915]).[supplied by OMIM, Mar 2008] |
EDEM1 GeneER degradation enhancer, mannosidase alpha-like 1 Enables mannosyl-oligosaccharide 1,2-alpha-mannosidase activity and misfolded protein binding activity. Involved in positive regulation of retrograde protein transport, ER to cytosol; protein targeting to ER; and proteolysis involved in protein catabolic process. Located in aggresome and endoplasmic reticulum quality control compartment. [provided by Alliance of Genome Resources, Mar 2025] |
GJA10 Genegap junction protein, alpha 10, 62kDa Connexins, such as GJA10, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008] |
HBAP1 Genehemoglobin, alpha pseudogene 1 |
P4HA2 Geneprolyl 4-hydroxylase, alpha polypeptide II This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] |
P4HA3 Geneprolyl 4-hydroxylase, alpha polypeptide III This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] |
P4HA1 Geneprolyl 4-hydroxylase, alpha polypeptide I This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] |
IL5RA Geneinterleukin 5 receptor, alpha The protein encoded by this gene is an interleukin 5 specific subunit of a heterodimeric cytokine receptor. The receptor is comprised of a ligand specific alpha subunit and a signal transducing beta subunit shared by the receptors for interleukin 3 (IL3), colony stimulating factor 2 (CSF2/GM-CSF), and interleukin 5 (IL5). The binding of this protein to IL5 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL5. This protein has been found to interact with syndecan binding protein (syntenin), which is required for IL5 mediated activation of the transcription factor SOX4. Several alternatively spliced transcript variants encoding four distinct isoforms have been reported. [provided by RefSeq, Jul 2011] |
AZGP1 Genealpha-2-glycoprotein 1, zinc-binding Predicted to enable RNA nuclease activity and protein transmembrane transporter activity. Involved in cell adhesion and detection of chemical stimulus involved in sensory perception of bitter taste. Located in extracellular space. Implicated in prostate carcinoma. Biomarker of several diseases, including gastrointestinal system cancer (multiple); kidney failure (multiple); liver cirrhosis; lung adenocarcinoma; and obesity. [provided by Alliance of Genome Resources, Mar 2025] |
LOC100421028 Genegap junction protein, alpha 4, 37kDa pseudogene |
SSR1P2 Genesignal sequence receptor, alpha pseudogene 2 |
EEF1A1P36 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 36 |
EEF1A1P30 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 30 |
LOC105379779 Genecollagen alpha-1(I) chain-like |
PPFIA2 Geneprotein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein has been shown to bind the calcium/calmodulin-dependent serine protein kinase (MAGUK family) protein (also known as CASK) and proposed to regulate higher-order brain functions in mammals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] |
PPFIA3 Geneprotein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. Liprin family protein has been shown to localize phosphatase LAR to cell focal adhesions and may be involved in the molecular organization of presynaptic active zones. [provided by RefSeq, Jul 2008] |
PPFIA1 Geneprotein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. This protein binds to the intracellular membrane-distal phosphatase domain of tyrosine phosphatase LAR, and appears to localize LAR to cell focal adhesions. This interaction may regulate the disassembly of focal adhesion and thus help orchestrate cell-matrix interactions. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] |
LOC100128362 Geneprotein phosphatase 2, catalytic subunit, alpha isozyme pseudogene |
IFNA22P Geneinterferon, alpha 22, pseudogene |
LOC100130620 Genetropomyosin 1 (alpha) pseudogene |
GAA Geneglucosidase, alpha; acid This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. The encoded preproprotein is proteolytically processed to generate multiple intermediate forms and the mature form of the enzyme. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] |
GFRA4 GeneGDNF family receptor alpha 4 The protein encoded by this gene is a member of the GDNF receptor family. It is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor for persephin, and mediates activation of the RET tyrosine kinase receptor. This gene is a candidate gene for RET-associated diseases. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] |
GFRA1 GeneGDNF family receptor alpha 1 This gene encodes a member of the glial cell line-derived neurotrophic factor receptor (GDNFR) family of proteins. The encoded preproprotein is proteolytically processed to generate the mature receptor. Glial cell line-derived neurotrophic factor (GDNF) and neurturin (NTN) are two structurally related, potent neurotrophic factors that play key roles in the control of neuron survival and differentiation. This receptor is a glycosylphosphatidylinositol (GPI)-linked cell surface receptor for both GDNF and NTN, and mediates activation of the RET tyrosine kinase receptor. This gene is a candidate gene for Hirschsprung disease. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016] |
GFRA3 GeneGDNF family receptor alpha 3 The protein encoded by this gene is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor and a member of the GDNF receptor family. It forms a signaling receptor complex with RET tyrosine kinase receptor and binds the ligand, artemin. [provided by RefSeq, Jul 2008] |
GFRA2 GeneGDNF family receptor alpha 2 Glial cell line-derived neurotrophic factor (GDNF) and neurturin (NTN) are two structurally related, potent neurotrophic factors that play key roles in the control of neuron survival and differentiation. The protein encoded by this gene is a member of the GDNF receptor family. It is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor for both GDNF and NTN, and mediates activation of the RET tyrosine kinase receptor. This encoded protein acts preferentially as a receptor for NTN compared to its other family member, GDNF family receptor alpha 1. This gene is a candidate gene for RET-associated diseases. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] |
LOC728026 Geneprothymosin alpha-like |
LOC102725144 Genecollagen alpha-1(III) chain-like |
HSP90AA4P Geneheat shock protein 90kDa alpha (cytosolic), class A member 4, pseudogene Predicted to enable ATP binding activity; ATP hydrolysis activity; and unfolded protein binding activity. Predicted to be involved in cellular response to heat; protein folding; and protein stabilization. Predicted to be located in cytoplasm. Predicted to be part of protein-containing complex. Predicted to be active in several cellular components, including myelin sheath; neuronal cell body; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
PPARGC1A Geneperoxisome proliferator-activated receptor gamma, coactivator 1 alpha The protein encoded by this gene is a transcriptional coactivator that regulates the genes involved in energy metabolism. This protein interacts with PPARgamma, which permits the interaction of this protein with multiple transcription factors. This protein can interact with, and regulate the activities of, cAMP response element binding protein (CREB) and nuclear respiratory factors (NRFs). It provides a direct link between external physiological stimuli and the regulation of mitochondrial biogenesis, and is a major factor that regulates muscle fiber type determination. This protein may be also involved in controlling blood pressure, regulating cellular cholesterol homoeostasis, and the development of obesity. [provided by RefSeq, Jul 2008] |
IL22RA2 Geneinterleukin 22 receptor, alpha 2 This gene encodes a member of the class II cytokine receptor family. The encoded soluble protein specifically binds to and inhibits interleukin 22 activity by blocking the interaction of interleukin 22 with its cell surface receptor. The encoded protein may be important in the regulation of inflammatory response, and has been implicated in the regulation of tumorigenesis in the colon. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2013] |
IL22RA1 Geneinterleukin 22 receptor, alpha 1 The protein encoded by this gene belongs to the class II cytokine receptor family, and has been shown to be a receptor for interleukin 22 (IL22). IL22 receptor is a protein complex that consists of this protein and interleukin 10 receptor, beta (IL10BR/CRFB4), a subunit also shared by the receptor complex for interleukin 10 (IL10). This gene and interleukin 28 receptor, alpha (IL28RA) form a cytokine receptor gene cluster in the chromosomal region 1p36. [provided by RefSeq, Jul 2008] |
LOC100419901 Genecasein kinase 1, alpha 1 pseudogene |
LOC729856 Geneelongation factor 1-alpha-like |
PPARA Geneperoxisome proliferator-activated receptor alpha Peroxisome proliferators include hypolipidemic drugs, herbicides, leukotriene antagonists, and plasticizers; this term arises because they induce an increase in the size and number of peroxisomes. Peroxisomes are subcellular organelles found in plants and animals that contain enzymes for respiration and for cholesterol and lipid metabolism. The action of peroxisome proliferators is thought to be mediated via specific receptors, called PPARs, which belong to the steroid hormone receptor superfamily. PPARs affect the expression of target genes involved in cell proliferation, cell differentiation and in immune and inflammation responses. Three closely related subtypes (alpha, beta/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 determined. [provided by RefSeq, Jul 2008] |
FUCA1 Genefucosidase, alpha-L- 1, tissue The protein encoded by this gene is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in this gene are associated with fucosidosis (FUCA1D), which is an autosomal recessive lysosomal storage disease. A pseudogene of this locus is present on chr 2.[provided by RefSeq, Oct 2009] |
FUCA2 Genefucosidase, alpha-L- 2, plasma This gene encodes a plasma alpha-L-fucosidase, which represents 10-20% of the total cellular fucosidase activity. The protein is a member of the glycosyl hydrolase 29 family, and catalyzes the hydrolysis of the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins. This enzyme is essential for Helicobacter pylori adhesion to human gastric cancer cells. [provided by RefSeq, Aug 2010] |
SERPINA12 Geneserpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 Enables molecular function inhibitor activity. Predicted to act upstream of or within negative regulation of gluconeogenesis; positive regulation of signal transduction; and regulation of lipid metabolic process. Predicted to be located in extracellular region and plasma membrane. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025] |
SERPINA10 Geneserpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 The protein encoded by this gene belongs to the serpin family. It is predominantly expressed in the liver and secreted in plasma. It inhibits the activity of coagulation factors Xa and XIa in the presence of protein Z, calcium and phospholipid. Mutations in this gene are associated with venous thrombosis. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, May 2010] |
SERPINA11 Geneserpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025] |
SCN2A Genesodium channel, voltage gated, type II alpha subunit Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels function in the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. Allelic variants of this gene are associated with seizure disorders and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016] |
NDUFA9P1 GeneNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, pseudogene 1 |
LOC642635 Genetubulin, alpha 4a pseudogene |
A4GALT Genealpha 1,4-galactosyltransferase The protein encoded by this gene catalyzes the transfer of galactose to lactosylceramide to form globotriaosylceramide, which has been identified as the P(k) antigen of the P blood group system. This protein, a type II membrane protein found in the Golgi, is also required for the synthesis of the bacterial verotoxins receptor. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015] |
EEF1A1P26 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 26 |
EEF1A1P25 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 25 |
EEF1A1P22 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 22 |
LOC101928841 Genecollagen alpha-1(II) chain-like |
EEF1A1P28 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 28 |
IFNA11P Geneinterferon, alpha 11, pseudogene |
PPP3R1 Geneprotein phosphatase 3, regulatory subunit B, alpha Enables phosphatase binding activity and protein domain specific binding activity. Involved in calcineurin-NFAT signaling cascade and positive regulation of transcription by RNA polymerase II. Part of calcineurin complex. Implicated in Alzheimer's disease and dilated cardiomyopathy. [provided by Alliance of Genome Resources, Mar 2025] |
C4BPAP1 Genecomplement component 4 binding protein, alpha pseudogene 1 |
PTMAP4 Geneprothymosin, alpha pseudogene 4 |
PTMAP5 Geneprothymosin, alpha pseudogene 5 |
PTMAP6 Geneprothymosin, alpha pseudogene 6 |
PTMAP7 Geneprothymosin, alpha pseudogene 7 |
PTMAP1 Geneprothymosin, alpha pseudogene 1 |
PTMAP2 Geneprothymosin, alpha pseudogene 2 |
PTMAP3 Geneprothymosin, alpha pseudogene 3 |
NDUFA5P12 GeneNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 12 |
POLA2 Genepolymerase (DNA directed), alpha 2, accessory subunit Predicted to enable DNA binding activity. Involved in DNA replication initiation and DNA replication, synthesis of primer. Located in cytosol and nucleoplasm. Part of alpha DNA polymerase:primase complex. [provided by Alliance of Genome Resources, Mar 2025] |
POLA1 Genepolymerase (DNA directed), alpha 1, catalytic subunit This gene encodes the catalytic subunit of DNA polymerase, which together with a regulatory and two primase subunits, forms the DNA polymerase alpha complex. The catalytic subunit plays an essential role in the initiation of DNA replication. [provided by RefSeq, Mar 2010] |
HSP90AB3P Geneheat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene Predicted to enable ATP binding activity; ATP hydrolysis activity; and unfolded protein binding activity. Predicted to be involved in cellular response to heat; protein folding; and protein stabilization. Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025] |
LOC101927503 Genecollagen alpha-1(III) chain-like |
LOC105375304 Genecollagen alpha-1(I) chain-like |
LOC100422463 Genecalcium channel, voltage-dependent, L type, alpha 1C subunit pseudogene |
LOC100421842 Geneeukaryotic translation elongation factor 1 alpha 2 pseudogene |
LOC100421840 Geneeukaryotic translation elongation factor 1 alpha 2 pseudogene |
NAA60 GeneN(alpha)-acetyltransferase 60, NatF catalytic subunit This gene encodes an enzyme that localizes to the Golgi apparatus, where it transfers an acetyl group to the N-terminus of free proteins. This enzyme acts on histones, and its activity is important for chromatin assembly and chromosome integrity. Alternative splicing and the use of alternative promoters results in multiple transcript variants. The upstream promoter is located in a differentially methylated region (DMR) and undergoes imprinting; transcript variants originating from this position are expressed from the maternal allele. [provided by RefSeq, Nov 2015] |
PDE6C Genephosphodiesterase 6C, cGMP-specific, cone, alpha prime This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010] |
PDE6A Genephosphodiesterase 6A, cGMP-specific, rod, alpha This gene encodes the cyclic-GMP (cGMP)-specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits. cGMP is an important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and guanylate cyclase cGMP synthesis. The protein is a subunit of a key phototransduction enzyme and participates in processes of transmission and amplification of the visual signal. Mutations in this gene have been identified as one cause of autosomal recessive retinitis pigmentosa. [provided by RefSeq, Jul 2008] |
IL11RA Geneinterleukin 11 receptor, alpha Interleukin 11 is a stromal cell-derived cytokine that belongs to a family of pleiotropic and redundant cytokines that use the gp130 transducing subunit in their high affinity receptors. This gene encodes the IL-11 receptor, which is a member of the hematopoietic cytokine receptor family. This particular receptor is very similar to ciliary neurotrophic factor, since both contain an extracellular region with a 2-domain structure composed of an immunoglobulin-like domain and a cytokine receptor-like domain. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012] |
LOC102724853 GeneNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene |
LOC441880 Geneeukaryotic translation elongation factor 1 alpha 2 pseudogene |
EEF1A1P40 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 40 |
EEF1A1P41 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 41 |
LOC644563 Genegeneral transcription factor IIIC, polypeptide 6, alpha 35kDa pseudogene |
COL20A1 Genecollagen, type XX, alpha 1 Predicted to be located in endoplasmic reticulum lumen and extracellular region. Predicted to be part of collagen trimer. Predicted to be active in collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Mar 2025] |
PTMA Geneprothymosin, alpha Enables DNA-binding transcription factor binding activity and histone binding activity. Involved in negative regulation of apoptotic process. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
IFNA8 Geneinterferon, alpha 8 Predicted to enable cytokine activity and type I interferon receptor binding activity. Predicted to be involved in several processes, including lymphocyte activation involved in immune response; response to exogenous dsRNA; and type I interferon-mediated signaling pathway. Predicted to act upstream of or within defense response to virus. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025] |
IFNA2 Geneinterferon, alpha 2 This gene is a member of the alpha interferon gene cluster on chromosome 9. The encoded cytokine is a member of the type I interferon family that is produced in response to viral infection as a key part of the innate immune response with potent antiviral, antiproliferative and immunomodulatory properties. This cytokine, like other type I interferons, binds a plasma membrane receptor made of IFNAR1 and IFNAR2 that is ubiquitously expressed, and thus is able to act on virtually all body cells. The encoded protein is effective in reducing the symptoms and duration of the common cold and in treating many types of cancer, including some hematological malignancies and solid tumors. A deficiency of type I interferon in the blood is thought to be a hallmark of severe COVID-19 and may provide a rationale for a combined therapeutic approach. [provided by RefSeq, Aug 2020] |
IFNA1 Geneinterferon, alpha 1 This gene is a member of the alpha interferon gene cluster on chromosome 9. The encoded cytokine is a member of the type I interferon family that is produced in response to viral infection as a key part of the innate immune response with potent antiviral, antiproliferative and immunomodulatory properties. This cytokine, like other type I interferons, binds a plasma membrane receptor made of IFNAR1 and IFNAR2 that is ubiquitously expressed, and thus is able to act on virtually all body cells. This cytokine is upregulated in preeclamptic placentas and is thought to be a mediator of preeclampsia. [provided by RefSeq, Aug 2020] |
IFNA7 Geneinterferon, alpha 7 Predicted to enable cytokine activity and type I interferon receptor binding activity. Predicted to be involved in several processes, including lymphocyte activation involved in immune response; response to exogenous dsRNA; and type I interferon-mediated signaling pathway. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025] |
IFNA5 Geneinterferon, alpha 5 Predicted to enable cytokine activity and type I interferon receptor binding activity. Predicted to be involved in several processes, including lymphocyte activation involved in immune response; response to exogenous dsRNA; and type I interferon-mediated signaling pathway. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025] |
IFNA4 Geneinterferon, alpha 4 Predicted to enable cytokine activity and type I interferon receptor binding activity. Predicted to be involved in several processes, including lymphocyte activation involved in immune response; response to exogenous dsRNA; and type I interferon-mediated signaling pathway. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025] |
NDUFA5P9 GeneNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 9 |
CRYAB Genecrystallin, alpha B Mammalian lens crystallins are divided into alpha, beta, and gamma families. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of the small heat shock protein (HSP20) family. They act as molecular chaperones although they do not renature proteins and release them in the fashion of a true chaperone; instead they hold them in large soluble aggregates. These heterogeneous aggregates consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. Two additional functions of alpha crystallins are an autokinase activity and participation in the intracellular architecture. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alpha-A and alpha-B gene products are differentially expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. Elevated expression of alpha-B crystallin occurs in many neurological diseases; a missense mutation cosegregated in a family with a desmin-related myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2019] |
NACAP1 Genenascent-polypeptide-associated complex alpha polypeptide pseudogene 1 Predicted to enable unfolded protein binding activity. Predicted to be involved in protein targeting to membrane. Predicted to be part of nascent polypeptide-associated complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
NACAP3 Genenascent-polypeptide-associated complex alpha polypeptide pseudogene 3 |
NACAP2 Genenascent-polypeptide-associated complex alpha polypeptide pseudogene 2 |
NACAP5 Genenascent-polypeptide-associated complex alpha polypeptide pseudogene 5 |
NACAP4 Genenascent-polypeptide-associated complex alpha polypeptide pseudogene 4 |
NACAP7 Genenascent-polypeptide-associated complex alpha polypeptide pseudogene 7 |
NACAP6 Genenascent-polypeptide-associated complex alpha polypeptide pseudogene 6 |
COL7A1 Genecollagen, type VII, alpha 1 This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008] |
COL4A6 Genecollagen, type IV, alpha 6 This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013] |
COL4A5 Genecollagen, type IV, alpha 5 This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010] |
COL4A4 Genecollagen, type IV, alpha 4 This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR. [provided by RefSeq, Jul 2008] |
COL4A3 Genecollagen, type IV, alpha 3 (Goodpasture antigen) Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. In the Goodpasture syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jun 2010] |
COL4A2 Genecollagen, type IV, alpha 2 This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jul 2008] |
COL4A1 Genecollagen, type IV, alpha 1 This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] |
NDUFA4P1 GeneNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa, pseudogene 1 |
NDUFA4P2 GeneNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa, pseudogene 2 |
LOC105373289 Genecollagen alpha-1(III) chain-like |
GJA1 Genegap junction protein, alpha 1, 43kDa This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014] |
GJA3 Genegap junction protein, alpha 3, 46kDa The protein encoded by this gene is a connexin and is a component of lens fiber gap junctions. Defects in this gene are a cause of zonular pulverulent cataract type 3 (CZP3). [provided by RefSeq, Jan 2010] |
GJA4 Genegap junction protein, alpha 4, 37kDa This gene encodes a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene have been associated with atherosclerosis and a higher risk of myocardial infarction. [provided by RefSeq, Jul 2008] |
GJA5 Genegap junction protein, alpha 5, 40kDa This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene may be associated with atrial fibrillation. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008] |
GJA8 Genegap junction protein, alpha 8, 50kDa This gene encodes a transmembrane connexin protein that is necessary for lens growth and maturation of lens fiber cells. The encoded protein is a component of gap junction channels and functions in a calcium and pH-dependent manner. Mutations in this gene have been associated with zonular pulverulent cataracts, nuclear progressive cataracts, and cataract-microcornea syndrome. [provided by RefSeq, Dec 2009] |
GJA9 Genegap junction protein, alpha 9, 59kDa Connexins, such as GJA9, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008] |
EIF2B1 Geneeukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Oct 2009] |
DEFA10P Genedefensin, alpha 10 pseudogene |
PSMA6 Geneproteasome (prosome, macropain) subunit, alpha type, 6 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Multiple transcript variants encoding several different isoforms have been found for this gene. A pseudogene has been identified on the Y chromosome. [provided by RefSeq, Aug 2013] |
EIF2AK1 Geneeukaryotic translation initiation factor 2-alpha kinase 1 The protein encoded by this gene acts at the level of translation initiation to downregulate protein synthesis in response to stress. The encoded protein is a kinase that can be inactivated by hemin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] |
EIF2AK3 Geneeukaryotic translation initiation factor 2-alpha kinase 3 The protein encoded by this gene phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2, leading to its inactivation, and thus to a rapid reduction of translational initiation and repression of global protein synthesis. This protein is thought to modulate mitochondrial function. It is a type I membrane protein located in the endoplasmic reticulum (ER), where it is induced by ER stress caused by malfolded proteins. Mutations in this gene are associated with Wolcott-Rallison syndrome. [provided by RefSeq, Sep 2015] |
EIF2AK2 Geneeukaryotic translation initiation factor 2-alpha kinase 2 The protein encoded by this gene is a serine/threonine protein kinase that is activated by autophosphorylation after binding to dsRNA. The activated form of the encoded protein can phosphorylate translation initiation factor EIF2S1, which in turn inhibits protein synthesis. This protein is also activated by manganese ions and heparin. The encoded protein plays an important role in the innate immune response against multiple DNA and RNA viruses. [provided by RefSeq, Jul 2021] |
EIF2AK4 Geneeukaryotic translation initiation factor 2 alpha kinase 4 This gene encodes a member of a family of kinases that phosphorylate the alpha subunit of eukaryotic translation initiation factor-2 (EIF2), resulting in the downregulaton of protein synthesis. The encoded protein responds to amino acid deprivation by binding uncharged transfer RNAs. It may also be activated by glucose deprivation and viral infection. Mutations in this gene have been found in individuals suffering from autosomal recessive pulmonary venoocclusive-disease-2. [provided by RefSeq, Mar 2014] |
GJA6P Genegap junction protein, alpha 6, pseudogene |
COL19A1 Genecollagen, type XIX, alpha 1 This gene encodes the alpha chain of type XIX collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Although the function of this collagen is not known, other members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. The transcript produced from this gene has an unusually large 3' UTR which has not been completely sequenced. [provided by RefSeq, Jul 2008] |
HNF4A Genehepatocyte nuclear factor 4, alpha The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012] |
LOC101929989 Genelipopolysaccharide-induced tumor necrosis factor-alpha factor-like Predicted to enable zinc ion binding activity. Predicted to be involved in regulation of cytokine production. Predicted to be located in membrane. Predicted to be active in cytoplasmic side of late endosome membrane; cytoplasmic side of lysosomal membrane; and nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
PMPCA Genepeptidase (mitochondrial processing) alpha The protein encoded by this gene is found in the mitochondrion, where it represents the alpha subunit of a proteolytic heterodimer. This heterodimer is responsible for cleaving the transit peptide from nuclear-encoded mitochondrial proteins. Defects in this gene are a cause of spinocerebellar ataxia, autosomal recessive 2. [provided by RefSeq, Mar 2016] |
NDUFA4L2 GeneNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like 2 Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025] |
KAR GeneAromatic alpha-keto acid reductase |
MEP1A Genemeprin A, alpha (PABA peptide hydrolase) Enables metallodipeptidase activity. Involved in epidermal growth factor receptor ligand maturation. Located in extracellular exosome. Part of meprin A complex. Is active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
ARHGDIA GeneRho GDP dissociation inhibitor (GDI) alpha This gene encodes a protein that plays a key role in the regulation of signaling through Rho GTPases. The encoded protein inhibits the disassociation of Rho family members from GDP (guanine diphosphate), thereby maintaining these factors in an inactive state. Activity of this protein is important in a variety of cellular processes, and expression of this gene may be altered in tumors. Mutations in this gene have been found in individuals with nephrotic syndrome, type 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] |
HBA2 Genehemoglobin, alpha 2 The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008] |
GBE1 Geneglucan (1,4-alpha-), branching enzyme 1 The protein encoded by this gene is a glycogen branching enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain. Branching of the chains is essential to increase the solubility of the glycogen molecule and, consequently, in reducing the osmotic pressure within cells. Highest level of this enzyme are found in liver and muscle. Mutations in this gene are associated with glycogen storage disease IV (also known as Andersen's disease). [provided by RefSeq, Jul 2008] |
FNTAP1 Genefarnesyltransferase, CAAX box, alpha pseudogene 1 |
DNMT3A GeneDNA (cytosine-5-)-methyltransferase 3 alpha CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase that is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes to the cytoplasm and nucleus and its expression is developmentally regulated. [provided by RefSeq, Mar 2016] |
REG3A Generegenerating islet-derived 3 alpha This gene encodes a pancreatic secretory protein that may be involved in cell proliferation or differentiation. It has similarity to the C-type lectin superfamily. The enhanced expression of this gene is observed during pancreatic inflammation and liver carcinogenesis. The mature protein also functions as an antimicrobial protein with antibacterial activity. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Nov 2014] |
COL10A1 Genecollagen, type X, alpha 1 This gene encodes the alpha chain of type X collagen, a short chain collagen expressed by hypertrophic chondrocytes during endochondral ossification. Unlike type VIII collagen, the other short chain collagen, type X collagen is a homotrimer. Mutations in this gene are associated with Schmid type metaphyseal chondrodysplasia (SMCD) and Japanese type spondylometaphyseal dysplasia (SMD). [provided by RefSeq, Jul 2008] |
IL36A Geneinterleukin 36, alpha The protein encoded by this gene is a cytokine that can activate NF-kappa-B and MAPK signaling pathways to generate an inflammatory response. The encoded protein functions primarily in skin and demonstrates increased expression in psoriasis. In addition, decreased expression of this gene has been linked to a poor prognosis in both hepatocellular carcinoma and colorectal cancer patients. [provided by RefSeq, Nov 2015] |
IFI27L1 Geneinterferon, alpha-inducible protein 27-like 1 Predicted to enable molecular adaptor activity. Involved in apoptotic process. Predicted to be located in membrane. Predicted to be active in mitochondrial membrane. [provided by Alliance of Genome Resources, Mar 2025] |
IFI27L2 Geneinterferon, alpha-inducible protein 27-like 2 Predicted to enable molecular adaptor activity. Involved in apoptotic process. Located in mitochondrial membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TXLNA Genetaxilin alpha Predicted to enable syntaxin binding activity. Predicted to be involved in exocytosis. Predicted to act upstream of or within B cell activation. Located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
EEF1A1P27 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 27 |
EEF1A1P23 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 23 |
EEF1A1P20 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 20 |
PPP2R5A Geneprotein phosphatase 2, regulatory subunit B', alpha The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in 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 an alpha isoform of the regulatory subunit B56 subfamily. Alternative transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010] |
PCDHA@ Geneprotocadherin alpha cluster, complex locus The protocadherin alpha gene cluster is one of three related clusters tandemly linked on chromosome five. The clusters have a genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 genes and 1 pseudogene, which are members of the cadherin superfamily and related to the mouse CNR genes. The sequence of the 13 upstream genes and the pseudogene are highly similar to one another, while a subfamily (C) contains two more distantly related coding sequences. The alpha cluster genes are organized in a tandem array of 15 large, variable region exons followed by a constant region, which contains 3 exons shared by all genes in the cluster. Each variable region exon encodes an extracellular domain comprised of 6 cadherin ectodomains and a transmembrane region. The constant region exons encode a common cytoplasmic tail. These neural adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the alpha cluster genes. [provided by RefSeq, Jul 2008] |
PCDHA2 Geneprotocadherin alpha 2 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] |
PCDHA3 Geneprotocadherin alpha 3 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] |
PCDHA1 Geneprotocadherin alpha 1 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] |
PCDHA6 Geneprotocadherin alpha 6 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] |
PCDHA7 Geneprotocadherin alpha 7 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] |
PCDHA4 Geneprotocadherin alpha 4 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] |
PCDHA5 Geneprotocadherin alpha 5 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] |
IL15RA Geneinterleukin 15 receptor, alpha This gene encodes a cytokine receptor that specifically binds interleukin 15 (IL15) with high affinity. The receptors of IL15 and IL2 share two subunits, IL2R beta and IL2R gamma. This forms the basis of many overlapping biological activities of IL15 and IL2. The protein encoded by this gene is structurally related to IL2R alpha, an additional IL2-specific alpha subunit necessary for high affinity IL2 binding. Unlike IL2RA, IL15RA is capable of binding IL15 with high affinity independent of other subunits, which suggests distinct roles between IL15 and IL2. This receptor is reported to enhance cell proliferation and expression of apoptosis inhibitor BCL2L1/BCL2-XL and BCL2. Multiple alternatively spliced transcript variants of this gene have been reported.[provided by RefSeq, Apr 2010] |
PCDHA8 Geneprotocadherin alpha 8 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] |
PCDHA9 Geneprotocadherin alpha 9 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] |
TUBA3GP Genetubulin, alpha 3g, pseudogene |
GNAI2 Geneguanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 The protein encoded by this gene is an alpha subunit of guanine nucleotide binding proteins (G proteins). The encoded protein contains the guanine nucleotide binding site and is involved in the hormonal regulation of adenylate cyclase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] |
GNAI3 Geneguanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling pathways. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes an alpha subunit and belongs to the G-alpha family. Mutation in this gene, resulting in a gly40-to-arg substitution, is associated with auriculocondylar syndrome, and shown to affect downstream targets in the G protein-coupled endothelin receptor pathway. [provided by RefSeq, Jun 2012] |
GNAI1 Geneguanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 Guanine nucleotide binding proteins are heterotrimeric signal-transducing molecules consisting of alpha, beta, and gamma subunits. The alpha subunit binds guanine nucleotide, can hydrolyze GTP, and can interact with other proteins. The protein encoded by this gene represents the alpha subunit of an inhibitory complex. The encoded protein is part of a complex that responds to beta-adrenergic signals by inhibiting adenylate cyclase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] |
MAP1LC3A Genemicrotubule-associated protein 1 light chain 3 alpha MAP1A and MAP1B are microtubule-associated proteins which mediate the physical interactions between microtubules and components of the cytoskeleton. MAP1A and MAP1B each consist of a heavy chain subunit and multiple light chain subunits. The protein encoded by this gene is one of the light chain subunits and can associate with either MAP1A or MAP1B. Two transcript variants encoding different isoforms have been found for this gene. The expression of variant 1 is suppressed in many tumor cell lines, suggesting that may be involved in carcinogenesis. [provided by RefSeq, Feb 2012] |
CACNA1G Genecalcium channel, voltage-dependent, T type, alpha 1G subunit Voltage-sensitive calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division, and cell death. This gene encodes a T-type, low-voltage activated calcium channel. The T-type channels generate currents that are both transient, owing to fast inactivation, and tiny, owing to small conductance. T-type channels are thought to be involved in pacemaker activity, low-threshold calcium spikes, neuronal oscillations and resonance, and rebound burst firing. Many alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2011] |
AMY1C Geneamylase, alpha 1C (salivary) Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the salivary gland. [provided by RefSeq, Jul 2008] |
TUBA3C Genetubulin, alpha 3c Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes and they are highly conserved among and between species. This gene is an alpha tubulin gene that encodes a protein 99% identical to the mouse testis-specific Tuba3 and Tuba7 gene products. This gene is located in the 13q11 region, which is associated with the genetic diseases Clouston hidrotic ectodermal dysplasia and Kabuki syndrome. [provided by RefSeq, Jul 2008] |
TUBA3E Genetubulin, alpha 3e Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. This gene encodes an alpha tubulin that highly conserved among species. A missense mutation in this gene has been potentially linked to microlissencephaly and global developmental delay. [provided by RefSeq, Jul 2016] |
TUBA3D Genetubulin, alpha 3d This gene encodes a member of the alpha tubulin family. Tubulin is a major component of microtubules, which are composed of alpha- and beta-tubulin heterodimers and microtubule-associated proteins in the cytoskeleton. Microtubules maintain cellular structure, function in intracellular transport, and play a role in spindle formation during mitosis. [provided by RefSeq, Oct 2011] |
NAGPA GeneN-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase Hydrolases are transported to lysosomes after binding to mannose 6-phosphate receptors in the trans-Golgi network. This gene encodes the enzyme that catalyzes the second step in the formation of the mannose 6-phosphate recognition marker on lysosomal hydrolases. Commonly known as 'uncovering enzyme' or UCE, this enzyme removes N-acetyl-D-glucosamine (GlcNAc) residues from GlcNAc-alpha-P-mannose moieties and thereby produces the recognition marker. The encoded preproprotein is proteolytically processed by furin to generate the mature enzyme, a homotetramer of two disulfide-linked homodimers. Mutations in this gene are associated with developmental stuttering in human patients. [provided by RefSeq, Oct 2015] |
NFYAP1 Genenuclear transcription factor Y, alpha pseudogene 1 |
NDUFA10 GeneNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa The protein encoded by this gene is a component of 42 kDa complex I, the first enzyme complex in the electron transport chain of mitochondria. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. A mutation in this gene was found in an individual with Leigh syndrome. [provided by RefSeq, Apr 2016] |
AMBP Genealpha-1-microglobulin/bikunin precursor This gene encodes a complex glycoprotein secreted in plasma. The precursor is proteolytically processed into distinct functioning proteins: alpha-1-microglobulin, which belongs to the superfamily of lipocalin transport proteins and may play a role in the regulation of inflammatory processes, and bikunin, which is a urinary trypsin inhibitor belonging to the superfamily of Kunitz-type protease inhibitors and plays an important role in many physiological and pathological processes. This gene is located on chromosome 9 in a cluster of lipocalin genes. [provided by RefSeq, Jul 2008] |
IDH3A Geneisocitrate dehydrogenase 3 (NAD+) alpha Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct 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 predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the alpha subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. [provided by RefSeq, Jul 2008] |
ENO1P3 Geneenolase 1, (alpha) pseudogene 3 |
ENO1P2 Geneenolase 1, (alpha) pseudogene 2 |
ENO1P1 Geneenolase 1, (alpha) pseudogene 1 |
FNTA Genefarnesyltransferase, CAAX box, alpha Prenyltransferases can attach either a farnesyl group or a geranylgeranyl group in thioether linkage to the cysteine residue of proteins with a C-terminal CAAX box. CAAX geranylgeranyltransferase and CAAX farnesyltransferase are heterodimers that share the same alpha subunit but have different beta subunits. This gene encodes the alpha subunit of these transferases. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 11 and 13. [provided by RefSeq, May 2010] |
PIK3CA Genephosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. This gene has been found to be oncogenic and has been implicated in cervical cancers. A pseudogene of this gene has been defined on chromosome 22. [provided by RefSeq, Apr 2016] |
COL11A2P1 Genecollagen, type XI, alpha 2 pseudogene 1 |
COL1A1 Genecollagen, type I, alpha 1 This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008] |
SCN4A Genesodium channel, voltage gated, type IV alpha subunit Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008] |
SCN10A Genesodium channel, voltage gated, type X alpha subunit The protein encoded by this gene is a tetrodotoxin-resistant voltage-gated sodium channel alpha subunit. The properties of the channel formed by the encoded transmembrane protein can be altered by interaction with different beta subunits. This protein may be involved in the onset of pain associated with peripheral neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] |
ACTA1 Geneactin, alpha 1, skeletal muscle The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause a variety of myopathies, including nemaline myopathy, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects with manifestations such as hypotonia. [provided by RefSeq, Sep 2019] |
COL6A3 Genecollagen, type VI, alpha 3 This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009] |
CALCA Genecalcitonin-related polypeptide alpha This gene encodes the peptide hormones calcitonin, calcitonin gene-related peptide and katacalcin by tissue-specific alternative RNA splicing of the gene transcripts and cleavage of inactive precursor proteins. Calcitonin is involved in calcium regulation and acts to regulate phosphorus metabolism. Calcitonin gene-related peptide functions as a vasodilator and as an antimicrobial peptide while katacalcin is a calcium-lowering peptide. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2014] |
COL6A6 Genecollagen, type VI, alpha 6 This gene encodes a large protein that contains multiple von Willebrand factor domains and forms a component of the basal lamina of epithelial cells. This protein may regulate epithelial cell-fibronectin interactions. Variation in this gene may be implicated in skin diseases. [provided by RefSeq, May 2017] |
CD79A GeneCD79a molecule, immunoglobulin-associated alpha The B lymphocyte antigen receptor is a multimeric complex that includes the antigen-specific component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with two other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function of the B-cell antigen receptor. This gene encodes the Ig-alpha protein of the B-cell antigen component. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] |
COL4A3BP Genecollagen, type IV, alpha 3 (Goodpasture antigen) binding protein This gene encodes a kinase that specifically phosphorylates the N-terminal region of the non-collagenous domain of the alpha 3 chain of type IV collagen, known as the Goodpasture antigen. Goodpasture disease is the result of an autoimmune response directed at this antigen. One isoform of this protein is also involved in ceramide intracellular transport. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
HSP90AB1 Geneheat shock protein 90kDa alpha (cytosolic), class B member 1 This gene encodes a member of the heat shock protein 90 family; these proteins are involved in signal transduction, protein folding and degradation and morphological evolution. This gene encodes the constitutive form of the cytosolic 90 kDa heat-shock protein and is thought to play a role in gastric apoptosis and inflammation. Alternative splicing results in multiple transcript variants. Pseudogenes have been identified on multiple chromosomes. [provided by RefSeq, Dec 2012] |
ATP12A GeneATPase, H+/K+ transporting, nongastric, alpha polypeptide The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This gene encodes a catalytic subunit of the ouabain-sensitive H+/K+ -ATPase that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for potassium absorption in various tissues. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] |
ITFG3 Geneintegrin alpha FG-GAP repeat containing 3 Located in cell surface. [provided by Alliance of Genome Resources, Mar 2025] |
ITFG2 Geneintegrin alpha FG-GAP repeat containing 2 Involved in cellular response to amino acid starvation; cellular response to glucose starvation; and negative regulation of TORC1 signaling. Located in Golgi apparatus and lysosomal membrane. Part of KICSTOR complex. [provided by Alliance of Genome Resources, Mar 2025] |
ITFG1 Geneintegrin alpha FG-GAP repeat containing 1 Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025] |
GLA Genegalactosidase, alpha This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. [provided by RefSeq, Jul 2008] |
CACNA1S Genecalcium channel, voltage-dependent, L type, alpha 1S subunit This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008] |
HLA-DRA Genemajor histocompatibility complex, class II, DR alpha HLA-DRA is one of the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha and a beta chain, both anchored in the membrane. This molecule is expressed on the surface of various antigen presenting cells such as B lymphocytes, dendritic cells, and monocytes/macrophages, and plays a central role in the immune system and response by presenting peptides derived from extracellular proteins, in particular, pathogen-derived peptides to T cells. The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. DRA does not have polymorphisms in the peptide binding part and acts as the sole alpha chain for DRB1, DRB3, DRB4 and DRB5. [provided by RefSeq, Aug 2020] |
GGTA2P Geneglycoprotein, alpha-galactosyltransferase 2, pseudogene |
PRKCA Geneprotein kinase C, alpha Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors 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 distinct role in cells. The protein encoded by this gene is one of the PKC family members. This kinase has been reported to play roles in many different cellular processes, such as cell adhesion, cell transformation, cell cycle checkpoint, and cell volume control. Knockout studies in mice suggest that this kinase may be a fundamental regulator of cardiac contractility and Ca(2+) handling in myocytes. [provided by RefSeq, Jul 2008] |
PHKA1 Genephosphorylase kinase, alpha 1 (muscle) Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the skeletal muscle isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9D, also known as X-linked muscle glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. A pseudogene has been found on chromosome 1.[provided by RefSeq, Feb 2010] |
PHKA2 Genephosphorylase kinase, alpha 2 (liver) Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9A, also known as X-linked liver glycogenosis. Alternatively spliced transcript variants have been reported, but the full-length nature of these variants has not been determined.[provided by RefSeq, Feb 2010] |
LOC105379556 Genenascent polypeptide-associated complex subunit alpha, muscle-specific form-like |
LOC103091863 GeneNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene |
TOP3A Genetopoisomerase (DNA) III alpha This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus reducing the number of supercoils and altering the topology of DNA. This enzyme forms a complex with BLM which functions in the regulation of recombination in somatic cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016] |
LOC442727 Geneprothymosin, alpha pseudogene |
PI4K2A Genephosphatidylinositol 4-kinase type 2 alpha Phosphatidylinositolpolyphosphates (PtdInsPs) are centrally involved in many biologic processes, ranging from cell growth and organization of the actin cytoskeleton to endo- and exocytosis. PI4KII phosphorylates PtdIns at the D-4 position, an essential step in the biosynthesis of PtdInsPs (Barylko et al., 2001 [PubMed 11244087]).[supplied by OMIM, Mar 2008] |
LOC100422441 Geneheat shock protein 90kDa alpha (cytosolic), class B member 1 pseudogene |
IL27RA Geneinterleukin 27 receptor, alpha In mice, CD4+ helper T-cells differentiate into type 1 (Th1) cells, which are critical for cell-mediated immunity, predominantly under the influence of IL12. Also, IL4 influences their differentiation into type 2 (Th2) cells, which are critical for most antibody responses. Mice deficient in these cytokines, their receptors, or associated transcription factors have impaired, but are not absent of, Th1 or Th2 immune responses. This gene encodes a protein which is similar to the mouse T-cell cytokine receptor Tccr at the amino acid level, and is predicted to be a glycosylated transmembrane protein. [provided by RefSeq, Jul 2008] |
COL23A1 Genecollagen, type XXIII, alpha 1 COL23A1 is a member of the transmembrane collagens, a subfamily of the nonfibrillar collagens that contain a single pass hydrophobic transmembrane domain (Banyard et al., 2003 [PubMed 12644459]).[supplied by OMIM, Mar 2008] |
PPP2R1A Geneprotein phosphatase 2, regulatory subunit A, alpha This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in 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 scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes an alpha isoform of the constant regulatory subunit A. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010] |
NAA38 GeneN(alpha)-acetyltransferase 38, NatC auxiliary subunit Predicted to enable RNA binding activity. Involved in negative regulation of apoptotic process. Located in cytoplasm and nucleoplasm. Part of NatC complex. [provided by Alliance of Genome Resources, Mar 2025] |
NAA35 GeneN(alpha)-acetyltransferase 35, NatC auxiliary subunit Predicted to enable transferase activity. Involved in negative regulation of apoptotic process. Located in cytosol; nucleoplasm; and plasma membrane. Part of NatC complex. [provided by Alliance of Genome Resources, Mar 2025] |
NAA30 GeneN(alpha)-acetyltransferase 30, NatC catalytic subunit Enables peptide alpha-N-acetyltransferase activity. Involved in protein stabilization. Located in cytosol and nucleus. Part of NatC complex. [provided by Alliance of Genome Resources, Mar 2025] |
HSPB6 Geneheat shock protein, alpha-crystallin-related, B6 This locus encodes a heat shock protein. The encoded protein likely plays a role in smooth muscle relaxation. [provided by RefSeq, Jan 2012] |
SNCA Genesynuclein, alpha (non A4 component of amyloid precursor) Alpha-synuclein is a member of the synuclein family, which also includes beta- and gamma-synuclein. Synucleins are abundantly expressed in the brain and alpha- and beta-synuclein inhibit phospholipase D2 selectively. SNCA may serve to integrate presynaptic signaling and membrane trafficking. Defects in SNCA have been implicated in the pathogenesis of Parkinson disease. SNCA peptides are a major component of amyloid plaques in the brains of patients with Alzheimer's disease. Alternatively spliced transcripts encoding different isoforms have been identified for this gene. [provided by RefSeq, Feb 2016] |
MC1R Genemelanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two types of melanin exist: red pheomelanin and black eumelanin. Gene mutations that lead to a loss in function are associated with increased pheomelanin production, which leads to lighter skin and hair color. Eumelanin is photoprotective but pheomelanin may contribute to UV-induced skin damage by generating free radicals upon UV radiation. Binding of MSH to its receptor activates the receptor and stimulates eumelanin synthesis. This receptor is a major determining factor in sun sensitivity and is a genetic risk factor for melanoma and non-melanoma skin cancer. Over 30 variant alleles have been identified which correlate with skin and hair color, providing evidence that this gene is an important component in determining normal human pigment variation. [provided by RefSeq, Jul 2008] |
A2M Genealpha-2-macroglobulin The protein encoded by this gene is a protease inhibitor and cytokine transporter. It uses a bait-and-trap mechanism to inhibit a broad spectrum of proteases, including trypsin, thrombin and collagenase. It can also inhibit inflammatory cytokines, and it thus disrupts inflammatory cascades. Mutations in this gene are a cause of alpha-2-macroglobulin deficiency. This gene is implicated in Alzheimer's disease (AD) due to its ability to mediate the clearance and degradation of A-beta, the major component of beta-amyloid deposits. A related pseudogene, which is also located on the p arm of chromosome 12, has been identified. [provided by RefSeq, Nov 2016] |
ENO1P4 Geneenolase 1, (alpha) pseudogene 4 |
FAP Genefibroblast activation protein, alpha The protein encoded by this gene is a homodimeric integral membrane gelatinase belonging to the serine protease family. It is selectively expressed in reactive stromal fibroblasts of epithelial cancers, granulation tissue of healing wounds, and malignant cells of bone and soft tissue sarcomas. This protein is thought to be involved in the control of fibroblast growth or epithelial-mesenchymal interactions during development, tissue repair, and epithelial carcinogenesis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014] |
AMY2A Geneamylase, alpha 2A (pancreatic) This gene encodes a member of the alpha-amylase family of proteins. Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, catalyzing the first step in digestion of dietary starch and glycogen. This gene and several family members are present in a gene cluster on chromosome 1. This gene encodes an amylase isoenzyme produced by the pancreas. [provided by RefSeq, Jan 2015] |
AMY2B Geneamylase, alpha 2B (pancreatic) Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the pancreas. [provided by RefSeq, Jun 2013] |
TUBAP2 Genetubulin, alpha pseudogene 2 |
TUBAP3 Genetubulin, alpha pseudogene 3 |
GUCY1A3 Geneguanylate cyclase 1, soluble, alpha 3 Soluble guanylate cyclases are heterodimeric proteins that catalyze the conversion of GTP to 3',5'-cyclic GMP and pyrophosphate. The protein encoded by this gene is an alpha subunit of this complex and it interacts with a beta subunit to form the guanylate cyclase enzyme, which is activated by nitric oxide. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] |
GUCY1A2 Geneguanylate cyclase 1, soluble, alpha 2 Soluble guanylate cyclases are heterodimeric proteins that catalyze the conversion of GTP to 3',5'-cyclic GMP and pyrophosphate. The protein encoded by this gene is an alpha subunit of this complex and it interacts with a beta subunit to form the guanylate cyclase enzyme, which is activated by nitric oxide. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] |
SCN7A Genesodium channel, voltage gated, type VII alpha subunit This gene encodes one of the many voltage-gated sodium channel proteins. For proper functioning of neurons and muscles during action potentials, voltage-gated sodium channels direct sodium ion diffusion for membrane depolarization. This sodium channel protein has some atypical characteristics; the similarity between the human and mouse proteins is lower compared to other orthologous sodium channel pairs. Also, the S4 segments, which sense voltage changes, have fewer positive charged residues that in other sodium channels; domain 4 has fewer arginine and lysine residues compared to other sodium channel proteins. Several alternatively spliced transcript variants exist, but the full-length natures of all of them remain unknown. [provided by RefSeq, Dec 2011] |
A2ML1 Genealpha-2-macroglobulin-like 1 This gene encodes a member of the alpha-macroglobulin superfamily. The encoded protein is thought to be an N-glycosylated monomeric protein that acts as an inhibitor of several proteases. It has been shown to form covalent interactions with proteases, and has been reported as the p170 antigen recognized by autoantibodies in the autoimmune disease paraneoplastic pemphigus (PNP; PMID:20805888). Mutations in these gene have also been associated with some cases of Noonan syndrome (NS; PMID:24939586) as well as some cases of otitis media (PMID:26121085). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015] |
LOC102723531 Genecollagen alpha-1(I) chain-like |
PSME1 Geneproteasome (prosome, macropain) activator subunit 1 (PA28 alpha) The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the alpha subunit of the 11S regulator, one of the two 11S subunits that is induced by gamma-interferon. Three alpha and three beta subunits combine to form a heterohexameric ring. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] |
LOC100422337 Geneguanine nucleotide binding protein (G protein), alpha 13 pseudogene |
LOC391448 Genemannosidase, endo-alpha-like pseudogene |
PI4KAP1 Genephosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1 |
CPAMD8 GeneC3 and PZP-like, alpha-2-macroglobulin domain containing 8 This gene encodes a member of the protease inhibitor I39 (alpha-2-macroglobulin) family of proteins. These proteins are important in innate and acquired immunity. The encoded protein is membrane-associated and proteolytically processed to generate two chains. Mutations in this gene cause a form of anterior segment dysgenesis, a developmental disorder of the eye. [provided by RefSeq, May 2017] |
HSP90AB6P Geneheat shock protein 90kDa alpha (cytosolic), class B member 6, pseudogene |
LOC100419045 Genetubulin, alpha 4a pseudogene |
LOC100419046 Genetubulin, alpha 4a pseudogene |
LOC102725000 Genecollagen alpha-2(V) chain-like |
LOC100287074 GeneARP1 actin-related protein 1 homolog A, centractin alpha (yeast) pseudogene |
BCKDHA Genebranched chain keto acid dehydrogenase E1, alpha polypeptide The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain 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 in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] |
ALG10B GeneALG10B, alpha-1,2-glucosyltransferase Enables dolichyl pyrophosphate Glc2Man9GlcNAc2 alpha-1,2-glucosyltransferase activity. Involved in dolichol-linked oligosaccharide biosynthetic process. Located in plasma membrane. Is active in endoplasmic reticulum membrane. Implicated in long QT syndrome 2. [provided by Alliance of Genome Resources, Mar 2025] |
SERPINA15P Geneserpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 15, pseudogene |
NFKBIA Genenuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha This gene encodes a member of the NF-kappa-B inhibitor family, which contain multiple ankrin repeat domains. The encoded protein interacts with REL dimers to inhibit NF-kappa-B/REL complexes which are involved in inflammatory responses. The encoded protein moves between the cytoplasm and the nucleus via a nuclear localization signal and CRM1-mediated nuclear export. Mutations in this gene have been found in ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant disease. [provided by RefSeq, Aug 2011] |
PPP1CA Geneprotein phosphatase 1, catalytic subunit, alpha isozyme The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). This broadly expressed gene encodes the alpha subunit of the PP1 complex that associates with over 200 regulatory proteins to form holoenzymes which dephosphorylate their biological targets with high specificity. PP1 is a serine/threonine specific protein phosphatase known to be involved in the regulation of a variety of cellular processes, such as cell division, glycogen metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Increased PP1 activity has been observed in the end stage of heart failure. Studies suggest that PP1 is an important regulator of cardiac function and that PP1 deregulation is implicated in diabetes and multiple types of cancer. Three alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2020] |
HIF1AN Genehypoxia inducible factor 1, alpha subunit inhibitor Enables several functions, including 2-oxoglutarate-dependent dioxygenase activity; NF-kappaB binding activity; and transition metal ion binding activity. Involved in negative regulation of Notch signaling pathway and positive regulation of myoblast differentiation. Located in cytosol; nucleoplasm; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
PPP2CA Geneprotein phosphatase 2, catalytic subunit, alpha isozyme This gene encodes the phosphatase 2A catalytic subunit. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in 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 an alpha isoform of the catalytic subunit. [provided by RefSeq, Jul 2008] |
LOC645163 Genephosphatidylinositol 4-kinase type 2 alpha pseudogene |
LOC101928903 GeneN-alpha-acetyltransferase 20 pseudogene |
SAMD14 Genesterile alpha motif domain containing 14 Predicted to enable actin filament binding activity. Predicted to be involved in actin filament organization; calcium-mediated signaling; and neuron projection development. Predicted to be active in several cellular components, including actin cytoskeleton; dendrite; and postsynaptic density. [provided by Alliance of Genome Resources, Mar 2025] |
SAMD15 Genesterile alpha motif domain containing 15 Predicted to enable protein serine/threonine kinase activator activity. Predicted to be involved in signal transduction. [provided by Alliance of Genome Resources, Mar 2025] |
SAMD12 Genesterile alpha motif domain containing 12 Predicted to be involved in cell surface receptor protein tyrosine kinase signaling pathway. Predicted to be active in cytoplasmic side of plasma membrane. Implicated in familial adult myoclonic epilepsy 1. [provided by Alliance of Genome Resources, Mar 2025] |
SAMD13 Genesterile alpha motif domain containing 13 |
SAMD10 Genesterile alpha motif domain containing 10 Predicted to be involved in cell surface receptor protein tyrosine kinase signaling pathway. Predicted to be active in cytoplasmic side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
SAMD11 Genesterile alpha motif domain containing 11 Predicted to enable several functions, including DNA-binding transcription repressor activity, RNA polymerase II-specific; identical protein binding activity; and protein domain specific binding activity. Predicted to be involved in negative regulation of DNA-templated transcription and retinal rod cell development. Predicted to act upstream of or within negative regulation of transcription by RNA polymerase II. Predicted to be part of PRC1 complex. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
GTF2E1 Genegeneral transcription factor IIE, polypeptide 1, alpha 56kDa Enables RNA polymerase II general transcription initiation factor activity. Involved in transcription by RNA polymerase II. Located in cytosol and nucleoplasm. Part of transcription factor TFIID complex. [provided by Alliance of Genome Resources, Mar 2025] |
LOC105376877 Genecollagen alpha-2(IV) chain-like |
COPA Genecoatomer protein complex, subunit alpha In eukaryotic cells, protein transport between the endoplasmic reticulum and Golgi compartments is mediated in part by non-clathrin-coated vesicular coat proteins (COPs). Seven coat proteins have been identified, and they represent subunits of a complex known as coatomer. The subunits are designated alpha-COP, beta-COP, beta-prime-COP, gamma-COP, delta-COP, epsilon-COP, and zeta-COP. The alpha-COP, encoded by COPA, shares high sequence similarity with RET1P, the alpha subunit of the coatomer complex in yeast. Also, the N-terminal 25 amino acids of alpha-COP encode the bioactive peptide, xenin, which stimulates exocrine pancreatic secretion and may act as a gastrointestinal hormone. Alternative splicing results in multiple splice forms encoding distinct isoforms. [provided by RefSeq, Jul 2008] |
LOC100420572 Geneglutathione S-transferase alpha 5 pseudogene |
LOC105379637 Genecollagen alpha-2(IV) chain-like |
LOC100286973 Geneprotein phosphatase 1, catalytic subunit, alpha isozyme pseudogene |
LTA Genelymphotoxin alpha The encoded protein, a member of the tumor necrosis factor family, is a cytokine produced by lymphocytes. The protein is highly inducible, secreted, and forms heterotrimers with lymphotoxin-beta which anchor lymphotoxin-alpha to the cell surface. This protein also mediates a large variety of inflammatory, immunostimulatory, and antiviral responses, is involved in the formation of secondary lymphoid organs during development and plays a role in apoptosis. Genetic variations in this gene are associated with susceptibility to leprosy type 4, myocardial infarction, non-Hodgkin's lymphoma, and psoriatic arthritis. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012] |
EEF1A1P14 Geneeukaryotic translation elongation factor 1 alpha 1 pseudogene 14 |
GSTA10P Geneglutathione S-transferase alpha 10, pseudogene |
CDC42BPA GeneCDC42 binding protein kinase alpha (DMPK-like) The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase contains multiple functional domains. Its kinase domain is highly similar to that of the myotonic dystrophy protein kinase (DMPK). This kinase also contains a Rac interactive binding (CRIB) domain, and has been shown to bind CDC42. It may function as a CDC42 downstream effector mediating CDC42 induced peripheral actin formation, and promoting cytoskeletal reorganization. Multiple alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2018] |
CNGA1 Genecyclic nucleotide gated channel alpha 1 The protein encoded by this gene is involved in phototransduction. Along with another protein, the encoded protein forms a cGMP-gated cation channel in the plasma membrane, allowing depolarization of rod photoreceptors. This represents the last step in the phototransduction pathway. Defects in this gene are a cause of retinitis pigmentosa autosomal recessive (ARRP) disease. Multiple transcript variants have been found for this gene. [provided by RefSeq, Oct 2019] |
CNGA2 Genecyclic nucleotide gated channel alpha 2 The protein encoded by this gene represents the alpha subunit of a cyclic nucleotide-gated olfactory channel. The encoded protein contains a carboxy-terminal leucine zipper that mediates channel formation. [provided by RefSeq, Jan 2010] |
CNGA3 Genecyclic nucleotide gated channel alpha 3 This gene encodes a member of the cyclic nucleotide-gated cation channel protein family which is required for normal vision and olfactory signal transduction. Mutations in this gene are associated with achromatopsia (rod monochromacy) and color blindness. Two alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] |
CNGA4 Genecyclic nucleotide gated channel alpha 4 CNGA4 is a modulatory subunit of vertebrate cyclic nucleotide-gated membrane channels that transduce odorant signals (Munger et al., 2001 [PubMed 11739959]).[supplied by OMIM, Mar 2008] |
LOC105374379 Genecollagen alpha-1(X) chain-like |
TUBA4A Genetubulin, alpha 4a Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes and they are highly conserved among and between species. This gene encodes an alpha tubulin that is a highly conserved homolog of a rat testis-specific alpha tubulin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013] |
TUBA4B Genetubulin, alpha 4b Predicted to enable GTP binding activity. Predicted to be a structural constituent of cytoskeleton. Predicted to be involved in microtubule cytoskeleton organization and mitotic cell cycle. Predicted to be located in microtubule cytoskeleton. Predicted to be active in cytoplasm and microtubule. [provided by Alliance of Genome Resources, Mar 2025] |
PCCA Genepropionyl CoA carboxylase, alpha polypeptide The protein encoded by this gene is the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PCCA or PCCB (encoding the beta subunit) lead to an enzyme deficiency resulting in propionic acidemia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010] |
LOC100420304 Genealpha-methylacyl-CoA racemase pseudogene |
COL13A1 Genecollagen, type XIII, alpha 1 This gene encodes the alpha chain of one of the nonfibrillar collagens. The function of this gene product is not known, however, it has been detected at low levels in all connective tissue-producing cells so it may serve a general function in connective tissues. Unlike most of the collagens, which are secreted into the extracellular matrix, collagen XIII contains a transmembrane domain and the protein has been localized to the plasma membrane. The transcripts for this gene undergo complex and extensive splicing involving at least eight exons. Like other collagens, collagen XIII is a trimer; it is not known whether this trimer is composed of one or more than one alpha chain isomer. A number of alternatively spliced transcript variants have been described, but the full length nature of some of them has not been determined. [provided by RefSeq, Jul 2008] |
LOC646745 Genegeneral transcription factor IIIC, polypeptide 6, alpha 35kDa pseudogene |
PILRA Genepaired immunoglobin-like type 2 receptor alpha Cell signaling pathways rely on a dynamic interaction between activating and inhibiting processes. SHP-1-mediated dephosphorylation of protein tyrosine residues is central to the regulation of several cell signaling pathways. Two types of inhibitory receptor superfamily members are immunoreceptor tyrosine-based inhibitory motif (ITIM)-bearing receptors and their non-ITIM-bearing, activating counterparts. Control of cell signaling via SHP-1 is thought to occur through a balance between PILRalpha-mediated inhibition and PILRbeta-mediated activation. These paired immunoglobulin-like receptor genes are located in a tandem head-to-tail orientation on chromosome 7. This particular gene encodes the ITIM-bearing member of the receptor pair, which functions in the inhibitory role. Alternative splicing has been observed at this locus and three variants, each encoding a distinct isoform, are described. [provided by RefSeq, Jul 2008] |
LOC100421204 Genecyclic nucleotide gated channel alpha 1 pseudogene |
LOC105379510 Genecollagen alpha-1(II) chain-like |
WDSUB1 GeneWD repeat, sterile alpha motif and U-box domain containing 1 Predicted to enable ubiquitin-protein transferase activity. Predicted to be involved in protein ubiquitination. [provided by Alliance of Genome Resources, Mar 2025] |
LAMA1 Genelaminin, alpha 1 This gene encodes one of the alpha 1 subunits of laminin. The laminins are a family of extracellular matrix glycoproteins that have a heterotrimeric structure consisting of an alpha, beta and gamma chain. These proteins make up a major component of the basement membrane and have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Mutations in this gene may be associated with Poretti-Boltshauser syndrome. [provided by RefSeq, Sep 2014] |
LAMA2 Genelaminin, alpha 2 Laminin, an extracellular protein, is a major component of the basement membrane. It is thought to mediate the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. It is composed of three subunits, alpha, beta, and gamma, which are bound to each other by disulfide bonds into a cross-shaped molecule. This gene encodes the alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin). Mutations in this gene have been identified as the cause of congenital merosin-deficient muscular dystrophy. Two transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Jul 2008] |
LAMA3 Genelaminin, alpha 3 The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coiled-coil domain. Laminins are essential for formation and function of the basement membrane and have additional functions in regulating cell migration and mechanical signal transduction. This gene encodes an alpha subunit and is responsive to several epithelial-mesenchymal regulators including keratinocyte growth factor, epidermal growth factor and insulin-like growth factor. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa and laryngoonychocutaneous syndrome. Alternative splicing and alternative promoter usage result in multiple transcript variants. [provided by RefSeq, Dec 2014] |
LAMA4 Genelaminin, alpha 4 Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the alpha chain isoform laminin, alpha 4. The domain structure of alpha 4 is similar to that of alpha 3, both of which resemble truncated versions of alpha 1 and alpha 2, in that approximately 1,200 residues at the N-terminus (domains IV, V and VI) have been lost. Laminin, alpha 4 contains the C-terminal G domain which distinguishes all alpha chains from the beta and gamma chains. The RNA analysis from adult and fetal tissues revealed developmental regulation of expression, however, the exact function of laminin, alpha 4 is not known. Tissue-specific utilization of alternative polyA-signal has been described in literature. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2011] |
LAMA5 Genelaminin, alpha 5 This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013] |
ATP4A GeneATPase, H+/K+ exchanging, alpha polypeptide The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta 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 a catalytic alpha subunit of the gastric H+, K+-ATPase. [provided by RefSeq, Jul 2008] |
LOC105371405 Genecollagen alpha-1(XIII) chain |
SAMD9L Genesterile alpha motif domain containing 9-like This gene encodes a cytoplasmic protein that acts as a tumor suppressor but also plays a key role in cell proliferation and the innate immune response to viral infection. The encoded protein contains an N-terminal sterile alpha motif domain. Naturally occurring mutations in this gene are associated with myeloid disorders such as juvenile myelomonocytic leukemia, acute myeloid leukemia, and myelodysplastic syndrome. Naturally occurring mutations are also associated with hepatitis-B related hepatocellular carcinoma, normophosphatemic familial tumoral calcinosis, and ataxia-pancytopenia syndrome. [provided by RefSeq, Apr 2017] |
CCHCR1 Genecoiled-coil alpha-helical rod protein 1 This gene encodes a protein with five coiled-coil alpha-helical rod domains that is thought to act as a regulator of mRNA metabolism through its interaction with mRNA-decapping protein 4. It localizes to P-bodies, the site of mRNA metabolism, with an N-terminus that is required for this subcellular localization, suggesting it is a P-body component. Naturally occurring mutations in this gene are associated with psoriasis. [provided by RefSeq, May 2017] |
NDUFA12P1 GeneNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 pseudogene 1 |
SERPINA1 Geneserpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 The protein encoded by this gene is a serine protease inhibitor belonging to the serpin superfamily whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. This protein is produced in the liver, the bone marrow, by lymphocytic and monocytic cells in lymphoid tissue, and by the Paneth cells of the gut. Defects in this gene are associated with chronic obstructive pulmonary disease, emphysema, and chronic liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2020] |
SERPINA7 Geneserpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 There are three proteins including thyroxine-binding globulin (TBG), transthyretin and albumin responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream. This gene encodes the major thyroid hormone transport protein, TBG, in serum. It belongs to the serpin family in genomics, but the protein has no inhibitory function like many other members of the serpin family. Mutations in this gene result in TGB deficiency, which has been classified as partial deficiency, complete deficiency, and excess, based on the level of serum TBG. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined.[provided by RefSeq, Jun 2012] |
HSP90AA1 Geneheat shock protein 90kDa alpha (cytosolic), class A member 1 The protein encoded by this gene is an inducible molecular chaperone that functions as a homodimer. The encoded protein aids in the proper folding of specific target proteins by use of an ATPase activity that is modulated by co-chaperones. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] |
PSMA6P4 Geneproteasome (prosome, macropain) subunit, alpha type, 6 pseudogene 4 |
PSMA6P2 Geneproteasome (prosome, macropain) subunit, alpha type, 6 pseudogene 2 |
PSMA6P1 Geneproteasome (prosome, macropain) subunit, alpha type, 6 pseudogene 1 |
LOC102724773 GeneN-acetyllactosaminide alpha-1,3-galactosyltransferase-like |
LIFR Geneleukemia inhibitory factor receptor alpha This gene encodes a protein that belongs to the type I cytokine receptor family. This protein combines with a high-affinity converter subunit, gp130, to form a receptor complex that mediates the action of the leukemia inhibitory factor, a polyfunctional cytokine that is involved in cellular differentiation, proliferation and survival in the adult and the embryo. Mutations in this gene cause Schwartz-Jampel syndrome type 2, a disease belonging to the group of the bent-bone dysplasias. A translocation that involves 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 encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2018] |
PPP2R2A Geneprotein phosphatase 2, regulatory subunit B, alpha The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in 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 an alpha isoform of the regulatory subunit B55 subfamily. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010] |
LOC101059906 Genecollagen alpha-2(IV) chain-like |
LOC100419036 Genetubulin, alpha 3e pseudogene |
LOC101928728 Genecollagen alpha-1(III) chain-like |
LOC101928722 Genenascent polypeptide-associated complex subunit alpha, muscle-specific form-like |
PAPOLA Genepoly(A) polymerase alpha The protein encoded by this gene belongs to the poly(A) polymerase family. It is required for the addition of adenosine residues for the creation of the 3'-poly(A) tail of mRNAs. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] |
GGTA1P Geneglycoprotein, alpha-galactosyltransferase 1 pseudogene Alpha-1,3-galactosyltransferase (GGTA1) is an enzyme present in most mammals except man, apes, and Old World monkeys. This gene is thought to encode a truncated, non-enzymatic form of the GGTA1 protein that lacks the C-terminal catalytic domain. Aberrant expression of the GGTA1 protein in man can lead to autoimmune diseases and sometimes germ cell tumors. [provided by RefSeq, May 2020] |
LOC100533626 Genetubulin, alpha 1c pseudogene |
LOC100533627 Genetubulin, alpha 1c pseudogene |
LOC100507703 GeneHLA class I histocompatibility antigen, A-69 alpha chain-like |
LOC101928120 Genecollagen alpha-1(I) chain-like |
HSP90AA6P Geneheat shock protein 90kDa alpha (cytosolic), class A member 6, pseudogene |
COL3A1 Genecollagen, type III, alpha 1 This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome type IV, and with aortic and arterial aneurysms. [provided by R. Dalgleish, Feb 2008] |
ADD1 Geneadducin 1 (alpha) Adducins are a family of cytoskeletal proteins encoded by three genes (alpha, beta, and gamma). Adducin acts as a heterodimer of the related alpha, beta, or gamma subunits. The protein encoded by this gene represents the alpha subunit. Alpha- and beta-adducin include a protease-resistant N-terminal region and a protease-sensitive, hydrophilic C-terminal region. Adducin binds with high affinity to Ca(2+)/calmodulin and is a substrate for protein kinases A and C. [provided by RefSeq, Aug 2017] |
AMY1A Geneamylase, alpha 1A (salivary) Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the salivary gland. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] |
AMY1B Geneamylase, alpha 1B (salivary) Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the salivary gland. [provided by RefSeq, Jul 2008] |
SRD5A3P1 Genesteroid 5 alpha-reductase 3 pseudogene 1 |
GBGT1 Genegloboside alpha-1,3-N-acetylgalactosaminyltransferase 1 This gene encodes a glycosyltransferase that plays a role in the synthesis of Forssman glycolipid (FG), a member of the globoseries glycolipid family. Glycolipids such as FG form attachment sites for the binding of pathogens to cells; expression of this protein may determine host tropism to microorganisms. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] |
CSN1S1 Genecasein alpha s1 Predicted to be involved in several processes, including response to 11-deoxycorticosterone; response to dehydroepiandrosterone; and response to progesterone. Located in extracellular space. [provided by Alliance of Genome Resources, Mar 2025] |
ACTA2 Geneactin, alpha 2, smooth muscle, aorta This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a smooth muscle actin that is involved in vascular contractility and blood pressure homeostasis. Mutations in this gene cause a variety of vascular diseases, such as thoracic aortic disease, coronary artery disease, stroke, and Moyamoya disease, as well as multisystemic smooth muscle dysfunction syndrome. [provided by RefSeq, Sep 2017] |
LOC102724866 GeneNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene |
MYH6 Genemyosin, heavy chain 6, cardiac muscle, alpha Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located approximately 4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Feb 2017] |
PIP5K1A Genephosphatidylinositol-4-phosphate 5-kinase, type I, alpha Enables 1-phosphatidylinositol-4-phosphate 5-kinase activity and kinase binding activity. Involved in several processes, including activation of GTPase activity; focal adhesion assembly; and ruffle assembly. Located in several cellular components, including lamellipodium; nucleus; and ruffle membrane. [provided by Alliance of Genome Resources, Mar 2025] |
COL24A1 Genecollagen, type XXIV, alpha 1 This gene is a member of the collagen gene family and is thought to regulate type I collagen fibrillogenesis during fetal development. [provided by RefSeq, Mar 2017] |
LOC105375110 Genecollagen alpha-1(III) chain-like |
LOC100132824 Genetubulin alpha-1C chain-like |
A4GNT Genealpha-1,4-N-acetylglucosaminyltransferase This gene encodes a protein from the glycosyltransferase 32 family. The enzyme catalyzes the transfer of N-acetylglucosamine (GlcNAc) to core 2 branched O-glycans. It forms a unique glycan, GlcNAcalpha1-->4Galbeta-->R and is largely associated with the Golgi apparatus membrane. [provided by RefSeq, Jul 2008] |
LOC100130321 GeneDNA fragmentation factor, 45kDa, alpha polypeptide pseudogene |
GSTA6P Geneglutathione S-transferase alpha 6, pseudogene |
MAN1C1 Genemannosidase, alpha, class 1C, member 1 Predicted to enable mannosyl-oligosaccharide 1,2-alpha-mannosidase activity. Predicted to be involved in ERAD pathway. Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025] |
IFNA13 Geneinterferon, alpha 13 Predicted to enable cytokine activity and type I interferon receptor binding activity. Predicted to be involved in several processes, including lymphocyte activation involved in immune response; response to exogenous dsRNA; and type I interferon-mediated signaling pathway. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025] |
IFNA10 Geneinterferon, alpha 10 This gene encodes a protein that belongs to the type I interferon family of proteins, and is located in a cluster of alpha interferon genes on chromosome 9. Interferons are small regulatory molecules that function in cell signaling in response to viruses and other pathogens or tumor cells. This gene is intronless and the encoded protein is secreted. [provided by RefSeq, Aug 2013] |
IFNA17 Geneinterferon, alpha 17 Predicted to enable cytokine activity and type I interferon receptor binding activity. Predicted to be involved in several processes, including lymphocyte activation involved in immune response; response to exogenous dsRNA; and type I interferon-mediated signaling pathway. Predicted to be located in extracellular region. Predicted to be active in extracellular space. Implicated in Crimean-Congo hemorrhagic fever and sarcoidosis. [provided by Alliance of Genome Resources, Mar 2025] |
IFNA16 Geneinterferon, alpha 16 Predicted to enable cytokine activity and type I interferon receptor binding activity. Predicted to be involved in several processes, including lymphocyte activation involved in immune response; positive regulation of receptor signaling pathway via JAK-STAT; and type I interferon-mediated signaling pathway. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025] |
IFNA14 Geneinterferon, alpha 14 Predicted to enable cytokine activity and type I interferon receptor binding activity. Predicted to be involved in several processes, including lymphocyte activation involved in immune response; response to exogenous dsRNA; and type I interferon-mediated signaling pathway. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025] |
MAN2C1 Genemannosidase, alpha, class 2C, member 1 Predicted to enable alpha-mannosidase activity. Predicted to be involved in oligosaccharide catabolic process. Located in nucleoplasm. Implicated in congenital disorder of deglycosylation 2. [provided by Alliance of Genome Resources, Mar 2025] |
PARVA Geneparvin, alpha This gene encodes a member of the parvin family of actin-binding proteins. Parvins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. The encoded protein is part of the integrin-linked kinase signaling complex and plays a role in cell adhesion, motility and survival. [provided by RefSeq, Dec 2010] |
HSP90AB5P Geneheat shock protein 90kDa alpha (cytosolic), class B member 5, pseudogene |
SPTAN1 Genespectrin, alpha, non-erythrocytic 1 Spectrins are a family of filamentous cytoskeletal proteins that function as essential scaffold proteins that stabilize the plasma membrane and organize intracellular organelles. Spectrins are composed of alpha and beta dimers that associate to form tetramers linked in a head-to-head arrangement. This gene encodes an alpha spectrin that is specifically expressed in nonerythrocytic cells. The encoded protein has been implicated in other cellular functions including DNA repair and cell cycle regulation. Mutations in this gene are the cause of early infantile epileptic encephalopathy-5. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010] |
PI4KA Genephosphatidylinositol 4-kinase, catalytic, alpha This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecular mass, and modulation by detergent and adenosine. The protein encoded by this gene is a type III enzyme that is not inhibited by adenosine. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2018] |
PSMA7P Geneproteasome (prosome, macropain) subunit, alpha type, 7 pseudogene |
SUCLG1 Genesuccinate-CoA ligase, alpha subunit This gene encodes the alpha subunit of the heterodimeric enzyme succinate coenzyme A ligase. This enzyme is targeted to the mitochondria and catalyzes the conversion of succinyl CoA and ADP or GDP to succinate and ATP or GTP. Mutations in this gene are the cause of the metabolic disorder fatal infantile lactic acidosis and mitochondrial DNA depletion. [provided by RefSeq, Feb 2010] |
LOC105371184 Genecollagen alpha-1(I) chain-like |
LOC100506248 Geneprothymosin alpha |
ATP5F1A GeneATP synthase F1 subunit alpha This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the different isoforms have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. [provided by RefSeq, Mar 2012] |
ERO1A Geneendoplasmic reticulum oxidoreductase 1 alpha Enables oxidoreductase activity. Involved in cell redox homeostasis and chaperone cofactor-dependent protein refolding. Located in Golgi lumen; endoplasmic reticulum; and extracellular space. [provided by Alliance of Genome Resources, Mar 2025] |
SRPRA GeneSRP receptor subunit alpha The gene encodes a subunit of the endoplasmic reticulum signal recognition particle receptor that, in conjunction with the signal recognition particle, is involved in the targeting and translocation of signal sequence tagged secretory and membrane proteins across the endoplasmic reticulum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010] |
GGTA1 Geneglycoprotein alpha-galactosyltransferase 1 (inactive) Alpha-1,3-galactosyltransferase (GGTA1) is an enzyme present in most mammals except man, apes, and Old World monkeys. This gene is thought to encode a truncated, non-enzymatic form of the GGTA1 protein that lacks the C-terminal catalytic domain. Aberrant expression of the GGTA1 protein in man can lead to autoimmune diseases and sometimes germ cell tumors. [provided by RefSeq, May 2020] |
NAA80 GeneN-alpha-acetyltransferase 80, NatH catalytic subunit This gene encodes a member of the N-acetyltransferase family. N-acetyltransferases modify proteins by transferring acetyl groups from acetyl CoA to the N-termini of protein substrates. The encoded protein is a cytoplasmic N-acetyltransferase with a substrate specificity for proteins with an N-terminal methionine. This gene is located in the tumor suppressor gene region on chromosome 3p21.3 and the encoded protein may play a role in cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed. This gene overlaps and is on the same strand as hyaluronoglucosaminidase 3, and some transcripts of each gene share a portion of the first exon. [provided by RefSeq, Jan 2011] |
CSNKA2IP Genecasein kinase 2 subunit alpha' interacting protein Predicted to be located in male germ cell nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
GUCY1A1 Geneguanylate cyclase 1 soluble subunit alpha 1 Soluble guanylate cyclases are heterodimeric proteins that catalyze the conversion of GTP to 3',5'-cyclic GMP and pyrophosphate. The protein encoded by this gene is an alpha subunit of this complex and it interacts with a beta subunit to form the guanylate cyclase enzyme, which is activated by nitric oxide. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] |
KPNA2P3 Genekaryopherin subunit alpha 2 pseudogene 3 |
ATP5F1AP3 GeneATP synthase F1 subunit alpha pseudogene 3 |
TUBAP12 Genetubulin alpha pseudogene 12 |
CSNK2A2IP Genecasein kinase 2 subunit alpha' interacting protein Predicted to be located in male germ cell nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
LOC128966570 Genealpha-amylase 1B |
TIPE1 GeneTNF alpha induced protein 8 like 1 Enables identical protein binding activity. Predicted to be involved in negative regulation of TOR signaling. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
TIPE3 GeneTNF alpha induced protein 8 like 3 Predicted to enable phosphatidylinositol binding activity and phosphatidylinositol transfer activity. Predicted to be involved in 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate metabolic process; phospholipid transport; and positive regulation of ERK1 and ERK2 cascade. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
TIPE2 GeneTNF alpha induced protein 8 like 2 Predicted to be involved in negative regulation of T cell activation and negative regulation of inflammatory response. Predicted to be located in lysosome and nucleus. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
LOC124903828 Genecollagen alpha-5(IV) chain-like |
LOC124905135 Genecollagen alpha-1(III) chain-like |
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CD4-positive,
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CD4-positive,
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regulation of t cell costimulation Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of t cell costimulation biological process from the curated GO Biological Process Annotations 2015 dataset. |
t cell costimulation Gene SetFrom GO Biological Process Annotations 2015 genes participating in the t cell costimulation biological process from the curated GO Biological Process Annotations 2015 dataset. |
b cell costimulation Gene SetFrom GO Biological Process Annotations 2015 genes participating in the b cell costimulation biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of T cell costimulation Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of T cell costimulation biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of T cell costimulation Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of T cell costimulation biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of T cell costimulation Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of T cell costimulation biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of T cell costimulation Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of T cell costimulation biological process from the curated GO Biological Process Annotations 2025 dataset. |
4,6-Dideoxy-4-{[4,5,6-Trihydroxy-3-(Hydroxymethyl)Cyclohex-2-En-1-Yl]Amino}-Alpha-D-Lyxo-Hexopyranosyl-(1->4)-Alpha-D-Threo-Hexopyranosyl-(1->6)-Alpha-L-Threo-Hexopyranose Gene Setinteracting proteins for the 4,6-Dideoxy-4-{[4,5,6-Trihydroxy-3-(Hydroxymethyl)Cyclohex-2-En-1-Yl]Amino}-Alpha-D-Lyxo-Hexopyranosyl-(1->4)-Alpha-D-Threo-Hexopyranosyl-(1->6)-Alpha-L-Threo-Hexopyranose drug from the curated DrugBank Drug Targets dataset. |
costimulation Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term costimulation in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
lymphocyte costimulation Gene SetFrom GO Biological Process Annotations 2015 genes participating in the lymphocyte costimulation biological process from the curated GO Biological Process Annotations 2015 dataset. |
Costimulation by the CD28 family Gene Setproteins participating in the Costimulation by the CD28 family pathway from the Reactome Pathways dataset. |
Costimulation by the CD28 family Gene Setproteins participating in the Costimulation by the CD28 family pathway from the Reactome Pathways 2024 dataset. |
alpha thalassemia; alpha-thalassemia; anemia, sickle cell; glucosephosphate dehydrogenase deficiency; hemolysis; sickle cell anemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha thalassemia; alpha-thalassemia; anemia, sickle cell; glucosephosphate dehydrogenase deficiency; hemolysis; sickle cell anemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
albuminuria; alpha thalassemia; alpha-thalassemia; anemia, sickle cell; sickle cell anemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease albuminuria; alpha thalassemia; alpha-thalassemia; anemia, sickle cell; sickle cell anemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha thalassemia; alpha-thalassemia; anemia, sickle cell; bone necrosis; osteonecrosis; sickle cell anemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha thalassemia; alpha-thalassemia; anemia, sickle cell; bone necrosis; osteonecrosis; sickle cell anemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha thalassemia; alpha-thalassemia; anemia, sickle cell; sickle cell anemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha thalassemia; alpha-thalassemia; anemia, sickle cell; sickle cell anemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha,alpha-trehalose-phosphate synthase complex (udp-forming) Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the alpha,alpha-trehalose-phosphate synthase complex (udp-forming) cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
SIRT1-HNF4-alpha-PGC-1-alpha complex, in response to fasting Gene Setproteins in the SIRT1-HNF4-alpha-PGC-1-alpha complex, in response to fasting protein complex from the CORUM Protein Complexes dataset. |
PCNA-MutS-alpha-MutL-alpha-DNA complex Gene Setproteins in the PCNA-MutS-alpha-MutL-alpha-DNA complex protein complex from the CORUM Protein Complexes dataset. |
IKK-alpha--ER-alpha-AIB1 complex Gene Setproteins in the IKK-alpha--ER-alpha-AIB1 complex protein complex from the CORUM Protein Complexes dataset. |
4,4'-(carbonylbis(imino-3,1-phenylenecarbonylimino-3,1-(4-methylphenylene)carbonylimino))bis(1,3-xylene-alpha,alpha'-diphosphonic acid) Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical 4,4'-(carbonylbis(imino-3,1-phenylenecarbonylimino-3,1-(4-methylphenylene)carbonylimino))bis(1,3-xylene-alpha,alpha'-diphosphonic acid) from the curated CTD Gene-Chemical Interactions dataset. |
2-(4-((dimethylamino)carbonyl)-3-fluorophenyl)-alpha,alpha-dimethyl-N-1,3,4-thiadiazol-2-yl-5H-(1)benzopyrano(2,3-b)pyridin-5-acetamide Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical 2-(4-((dimethylamino)carbonyl)-3-fluorophenyl)-alpha,alpha-dimethyl-N-1,3,4-thiadiazol-2-yl-5H-(1)benzopyrano(2,3-b)pyridin-5-acetamide from the curated CTD Gene-Chemical Interactions dataset. |
6,6'-bis(2,3-dimethoxybenzoyl)-alpha,alpha-trehalose Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical 6,6'-bis(2,3-dimethoxybenzoyl)-alpha,alpha-trehalose from the curated CTD Gene-Chemical Interactions dataset. |
15-Hydroxy-11 alpha,9 alpha-(epoxymethano)prosta-5,13-dienoic Acid Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical 15-Hydroxy-11 alpha,9 alpha-(epoxymethano)prosta-5,13-dienoic Acid from the curated CTD Gene-Chemical Interactions dataset. |
alpha,alpha-dimethoxytoluene Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha,alpha-dimethoxytoluene from the curated CTD Gene-Chemical Interactions dataset. |
5-2-(4-((ethylmethylamino)carbonyl)-3-fluorophenyl)-alpha,alpha-dimethyl-N-1,3,4-thiadiazol-2-yl-5H-(1)benzopyrano(2,3-b)pyridin-5-acetamide Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical 5-2-(4-((ethylmethylamino)carbonyl)-3-fluorophenyl)-alpha,alpha-dimethyl-N-1,3,4-thiadiazol-2-yl-5H-(1)benzopyrano(2,3-b)pyridin-5-acetamide from the curated CTD Gene-Chemical Interactions dataset. |
Methyl-2-S-(Alpha-D-Mannopyranosyl)-2-Thio-Alpha-D-Mannopyranoside Gene Setinteracting proteins for the Methyl-2-S-(Alpha-D-Mannopyranosyl)-2-Thio-Alpha-D-Mannopyranoside drug from the curated DrugBank Drug Targets dataset. |
alpha thalassemia; alpha-thalassemia; anemia; malaria, cerebral; malaria, falciparum Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha thalassemia; alpha-thalassemia; anemia; malaria, cerebral; malaria, falciparum in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha thalassemia; alpha-thalassemia; elliptocytosis, hereditary; malaria, falciparum Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha thalassemia; alpha-thalassemia; elliptocytosis, hereditary; malaria, falciparum in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha thalassemia; alpha-thalassemia; hydrops fetalis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha thalassemia; alpha-thalassemia; hydrops fetalis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha thalassemia; alpha-thalassemia; fetal diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha thalassemia; alpha-thalassemia; fetal diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha thalassemia; alpha-thalassemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha thalassemia; alpha-thalassemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha thalassemia; alpha-thalassemia; anemia, hypochromic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha thalassemia; alpha-thalassemia; anemia, hypochromic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha-n-acetylneuraminate alpha-2,8-sialyltransferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the alpha-n-acetylneuraminate alpha-2,8-sialyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
alpha,alpha-trehalase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the alpha,alpha-trehalase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
alpha-n-acetylgalactosaminide alpha-2,6-sialyltransferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the alpha-n-acetylgalactosaminide alpha-2,6-sialyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
5α-pregnan-3α-ol-20-one Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the 5α-pregnan-3α-ol-20-one ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
3 alpha,7 alpha,24-Trihydroxy-5beta-cholestanoyl-CoA Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the 3 alpha,7 alpha,24-Trihydroxy-5beta-cholestanoyl-CoA metabolite from the curated HMDB Metabolites of Enzymes dataset. |
D-Gal alpha 1->6D-Gal alpha 1->6D-Glucose Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the D-Gal alpha 1->6D-Gal alpha 1->6D-Glucose metabolite from the curated HMDB Metabolites of Enzymes dataset. |
4-alpha-Methyl-5-alpha-cholest-7-en-3-one Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the 4-alpha-Methyl-5-alpha-cholest-7-en-3-one metabolite from the curated HMDB Metabolites of Enzymes dataset. |
3-alpha-hydroxy-5-alpha-androstane-17-one 3-D-glucuronide Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the 3-alpha-hydroxy-5-alpha-androstane-17-one 3-D-glucuronide metabolite from the curated HMDB Metabolites of Enzymes dataset. |
17-alpha,20-alpha-Dihydroxypregn-4-en-3-one Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the 17-alpha,20-alpha-Dihydroxypregn-4-en-3-one metabolite from the curated HMDB Metabolites of Enzymes dataset. |
3 alpha,7 alpha,26-Trihydroxy-5beta-cholestane Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the 3 alpha,7 alpha,26-Trihydroxy-5beta-cholestane metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Terpenoid cyclases/protein prenyltransferase alpha-alpha toroid Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Terpenoid cyclases/protein prenyltransferase alpha-alpha toroid protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
BRD-K20168484_1h-indole-2-propanoic acid, 1-[(4-chlorophenyl)methyl]-3-[(1,1-dimethylethyl)thio]-alpha,alpha-dimethyl-5-(1-methylethyl)- [cas]_A549_24.0_h_10.0_um Gene SetFrom LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the BRD-K20168484_1h-indole-2-propanoic acid, 1-[(4-chlorophenyl)methyl]-3-[(1,1-dimethylethyl)thio]-alpha,alpha-dimethyl-5-(1-methylethyl)- [cas]_A549_24.0_h_10.0_um small molecule perturbation from the LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
BRD-K20168484_1h-indole-2-propanoic acid, 1-[(4-chlorophenyl)methyl]-3-[(1,1-dimethylethyl)thio]-alpha,alpha-dimethyl-5-(1-methylethyl)- [cas]_PC3_24.0_h_10.0_um Gene SetFrom LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the BRD-K20168484_1h-indole-2-propanoic acid, 1-[(4-chlorophenyl)methyl]-3-[(1,1-dimethylethyl)thio]-alpha,alpha-dimethyl-5-(1-methylethyl)- [cas]_PC3_24.0_h_10.0_um small molecule perturbation from the LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
Heterotrimeric G-protein signaling pathway-Gi alpha and Gs alpha mediated pathway Gene SetFrom PANTHER Pathways proteins participating in the Heterotrimeric G-protein signaling pathway-Gi alpha and Gs alpha mediated pathway pathway from the PANTHER Pathways dataset. |
Heterotrimeric G-protein signaling pathway-Gq alpha and Go alpha mediated pathway Gene SetFrom PANTHER Pathways proteins participating in the Heterotrimeric G-protein signaling pathway-Gq alpha and Go alpha mediated pathway pathway from the PANTHER Pathways dataset. |
Alpha, Alpha-Trehalase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alpha, Alpha-Trehalase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
alpha,alpha-trehalase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the alpha,alpha-trehalase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
UDP-alpha-D-glucose:glucosyl-glycogenin alpha-D-glucosyltransferase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the UDP-alpha-D-glucose:glucosyl-glycogenin alpha-D-glucosyltransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
alpha,alpha-trehalase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the alpha,alpha-trehalase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase [NAD(P)+] activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase [NAD(P)+] activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
alpha,alpha-trehalose-phosphate synthase complex (UDP-forming) Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the alpha,alpha-trehalose-phosphate synthase complex (UDP-forming) cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
T-cell surface antigen CD4 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the T-cell surface antigen CD4 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
T cell CD4 receptor C-terminal region Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the T cell CD4 receptor C-terminal region protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
culture condition:cd4+ cell Gene SetFrom TISSUES Experimental Tissue Protein Expression Evidence Scores proteins highly expressed in the tissue culture condition:cd4+ cell in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset. |
decreased CD4-negative NK T cell number Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased CD4-negative NK T cell number phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
decreased memory-marker CD4-negative NK T cell number Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased memory-marker CD4-negative NK T cell number phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased memory-marker CD4-negative NK T cell number Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased memory-marker CD4-negative NK T cell number phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased CD4-negative NK T cell number Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased CD4-negative NK T cell number phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased memory-marker CD4-negative NK T cell number Gene SetFrom IMPC Knockout Mouse Phenotypes gene knockouts causing the increased memory-marker CD4-negative NK T cell number phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset. |
decreased memory-marker CD4-negative NK T cell number Gene SetFrom IMPC Knockout Mouse Phenotypes gene knockouts causing the decreased memory-marker CD4-negative NK T cell number phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset. |
decreased CD4-negative NK T cell number Gene SetFrom IMPC Knockout Mouse Phenotypes gene knockouts causing the decreased CD4-negative NK T cell number phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset. |
increased CD4-negative NK T cell number Gene SetFrom IMPC Knockout Mouse Phenotypes gene knockouts causing the increased CD4-negative NK T cell number phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset. |
Human - PBMC - L1 - CD4+ T cell Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - PBMC - L1 - CD4+ T cell cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
CD4+ recently activated effector memory or effector T cell (CTL)_Blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ recently activated effector memory or effector T cell (CTL)_Blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Tissue migratory CD4+ T cell (TMC)_Undefined_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Tissue migratory CD4+ T cell (TMC)_Undefined_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Thoracic thymus_CT1_cytotoxic CD4 T cell Gene SetFrom HuBMAP ASCT+B Annotations biomarker genes for the Thoracic thymus_CT1_cytotoxic CD4 T cell cell type from the HuBMAP ASCT+B dataset. |
Large intestine_CT1_regulatory CD4+ T cell Gene SetFrom HuBMAP ASCT+B Annotations biomarker genes for the Large intestine_CT1_regulatory CD4+ T cell cell type from the HuBMAP ASCT+B dataset. |
Spleen_CT1_Naive CD4+ T Cell Gene SetFrom HuBMAP ASCT+B Annotations biomarker genes for the Spleen_CT1_Naive CD4+ T Cell cell type from the HuBMAP ASCT+B dataset. |
Lymph node_CT1_Naive CD4+ T cell Gene SetFrom HuBMAP ASCT+B Annotations biomarker genes for the Lymph node_CT1_Naive CD4+ T cell cell type from the HuBMAP ASCT+B dataset. |
Lymph node_CT1_Memory CD4+ T cell Gene SetFrom HuBMAP ASCT+B Annotations biomarker genes for the Lymph node_CT1_Memory CD4+ T cell cell type from the HuBMAP ASCT+B dataset. |
Large intestine_CT1_regulatory CD4+ T cell Gene SetFrom HuBMAP ASCT+B Augmented with RNA-seq Coexpression biomarker genes for the Large intestine_CT1_regulatory CD4+ T cell cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset. |
Lymph node_CT1_Memory CD4+ T cell Gene SetFrom HuBMAP ASCT+B Augmented with RNA-seq Coexpression biomarker genes for the Lymph node_CT1_Memory CD4+ T cell cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset. |
Lymph node_CT1_Naive CD4+ T cell Gene SetFrom HuBMAP ASCT+B Augmented with RNA-seq Coexpression biomarker genes for the Lymph node_CT1_Naive CD4+ T cell cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset. |
Spleen_CT1_Naive CD4+ T Cell Gene SetFrom HuBMAP ASCT+B Augmented with RNA-seq Coexpression biomarker genes for the Spleen_CT1_Naive CD4+ T Cell cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset. |
Thoracic thymus_CT1_cytotoxic CD4 T cell Gene SetFrom HuBMAP ASCT+B Augmented with RNA-seq Coexpression biomarker genes for the Thoracic thymus_CT1_cytotoxic CD4 T cell cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset. |
adenocarcinoma; carcinoma, large cell; carcinoma, small cell; carcinoma, squamous cell; lung neoplasms; neoplasm of lung ; small cell carcinoma of lung; squamous cell carcinoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adenocarcinoma; carcinoma, large cell; carcinoma, small cell; carcinoma, squamous cell; lung neoplasms; neoplasm of lung ; small cell carcinoma of lung; squamous cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cerebellar purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation Gene SetFrom GO Biological Process Annotations 2015 genes participating in the cerebellar purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation biological process from the curated GO Biological Process Annotations 2015 dataset. |
cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation Gene SetFrom GO Biological Process Annotations 2023 genes participating in the cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation biological process from the curated GO Biological Process Annotations 2023 dataset. |
Alpha cell (α cell)_Liver_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Alpha cell (α cell)_Liver_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Alpha cell (α cell)_Pancreatic islet_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Alpha cell (α cell)_Pancreatic islet_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Alpha cell (α cell)_Pancreas_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Alpha cell (α cell)_Pancreas_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Alpha cell (α cell)_Pancreas_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Alpha cell (α cell)_Pancreas_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Alpha cell (α cell)_Pancreatic islet_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Alpha cell (α cell)_Pancreatic islet_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+_Tcells Gene SetFrom BioGPS Human Cell Type and Tissue Gene Expression Profiles genes with high or low expression in CD4+_Tcells relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset. |
cd4.Tcell Gene SetFrom BioGPS Mouse Cell Type and Tissue Gene Expression Profiles genes with high or low expression in cd4.Tcell relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset. |
VDR-23849224-CD4+-HUMAN Gene SetFrom ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the VDR-23849224-CD4+-HUMAN transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset. |
STAT3-20064451-CD4+T-MOUSE Gene SetFrom ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the STAT3-20064451-CD4+T-MOUSE transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset. |
cd4 Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term cd4 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
TSC1_Deficiency_GDS4572_346_mouse_Naive CD4 T cells Gene SetFrom GEO Signatures of Differentially Expressed Genes for Gene Perturbations genes differentially expressed following the TSC1_Deficiency_GDS4572_346_mouse_Naive CD4 T cells gene perturbation from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. |
cd4 receptor binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the cd4 receptor binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
decreased number of cd4+ t cells Gene SetFrom HPO Gene-Disease Associations genes associated with the decreased number of cd4+ t cells phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
CD4, extracellular Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the CD4, extracellular protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
CD4 Gene SetFrom Pathway Commons Protein-Protein Interactions interacting proteins for CD4 from the Pathway Commons Protein-Protein Interactions dataset. |
JNK signaling in the CD4+ TCR pathway Gene SetFrom PID Pathways proteins participating in the JNK signaling in the CD4+ TCR pathway pathway from the PID Pathways dataset. |
TCR signaling in naïve CD4+ T cells Gene SetFrom PID Pathways proteins participating in the TCR signaling in naïve CD4+ T cells pathway from the PID Pathways dataset. |
Ras signaling in the CD4+ TCR pathway Gene SetFrom PID Pathways proteins participating in the Ras signaling in the CD4+ TCR pathway pathway from the PID Pathways dataset. |
Calcium signaling in the CD4+ TCR pathway Gene SetFrom PID Pathways proteins participating in the Calcium signaling in the CD4+ TCR pathway pathway from the PID Pathways dataset. |
Nef Mediated CD4 Down-regulation Gene Setproteins participating in the Nef Mediated CD4 Down-regulation pathway from the Reactome Pathways dataset. |
Vpu mediated degradation of CD4 Gene Setproteins participating in the Vpu mediated degradation of CD4 pathway from the Reactome Pathways dataset. |
Idiopathic Cd4 Lymphocytopenia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Idiopathic Cd4 Lymphocytopenia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Abnormal Proportion Of Cd4 T Cells Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormal Proportion Of Cd4 T Cells in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abnormal Cd4:Cd8 Ratio Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormal Cd4:Cd8 Ratio in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
negative regulation of CD4 production Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of CD4 production biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of CD4 production Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of CD4 production biological process from the curated GO Biological Process Annotations 2023 dataset. |
CD4 receptor binding Gene SetFrom GO Molecular Function Annotations 2023 genes performing the CD4 receptor binding molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
IRF4-20064451-CD4+T-MOUSE Gene SetFrom ChEA Transcription Factor Targets 2022 target genes of the IRF4-20064451-CD4+T-MOUSE transcription factor in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. |
STAT6-20620947-CD4-POS-T-HUMAN Gene SetFrom ChEA Transcription Factor Targets 2022 target genes of the STAT6-20620947-CD4-POS-T-HUMAN transcription factor in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. |
STAT3-20064451-CD4+T-MOUSE Gene SetFrom ChEA Transcription Factor Targets 2022 target genes of the STAT3-20064451-CD4+T-MOUSE transcription factor in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. |
VDR-23849224-CD4+-HUMAN Gene SetFrom ChEA Transcription Factor Targets 2022 target genes of the VDR-23849224-CD4+-HUMAN transcription factor in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. |
CD4 Gene SetFrom LINCS L1000 CMAP CRISPR Knockout Consensus Signatures genes differentially expressed following the CD4 gene perturbation from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset. |
Human - PBMC - L2 - CD4+ Cytotoxic T Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - PBMC - L2 - CD4+ Cytotoxic T cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - PBMC - L2 - CD4+ Naive T Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - PBMC - L2 - CD4+ Naive T cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - PBMC - L2 - CD4+ Proliferating T Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - PBMC - L2 - CD4+ Proliferating T cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - PBMC - L2 - CD4+ Central Memory T Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - PBMC - L2 - CD4+ Central Memory T cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - PBMC - L2 - CD4+ Effector Memory T Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - PBMC - L2 - CD4+ Effector Memory T cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - PBMC - L3 - CD4+ Cytotoxic T Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - PBMC - L3 - CD4+ Cytotoxic T cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - PBMC - L3 - CD4+ Naive T Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - PBMC - L3 - CD4+ Naive T cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - PBMC - L3 - CD4+ Proliferating T Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - PBMC - L3 - CD4+ Proliferating T cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - PBMC - L3 - CD4+ Central Memory T_1 Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - PBMC - L3 - CD4+ Central Memory T_1 cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - PBMC - L3 - CD4+ Central Memory T_2 Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - PBMC - L3 - CD4+ Central Memory T_2 cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - PBMC - L3 - CD4+ Central Memory T_3 Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - PBMC - L3 - CD4+ Central Memory T_3 cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - PBMC - L3 - CD4+ Effector Memory T_1 Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - PBMC - L3 - CD4+ Effector Memory T_1 cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - PBMC - L3 - CD4+ Effector Memory T_2 Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - PBMC - L3 - CD4+ Effector Memory T_2 cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - PBMC - L3 - CD4+ Effector Memory T_3 Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - PBMC - L3 - CD4+ Effector Memory T_3 cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - PBMC - L3 - CD4+ Effector Memory T_4 Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - PBMC - L3 - CD4+ Effector Memory T_4 cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - Lung v1 - L1 - CD4 T Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - Lung v1 - L1 - CD4 T cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - Lung v1 - L2 - CD4+ Memory/Effector T Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - Lung v1 - L2 - CD4+ Memory/Effector T cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - Lung v1 - L2 - CD4+ Naive T Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - Lung v1 - L2 - CD4+ Naive T cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - Bone Marrow - L1 - CD4 T Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - Bone Marrow - L1 - CD4 T cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - Bone Marrow - L2 - CD4 Effector Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - Bone Marrow - L2 - CD4 Effector cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - Bone Marrow - L2 - CD4 Memory Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - Bone Marrow - L2 - CD4 Memory cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - Bone Marrow - L2 - CD4 Naive Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - Bone Marrow - L2 - CD4 Naive cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - Lung v2 (HLCA) - L4 - CD4 T cells Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - Lung v2 (HLCA) - L4 - CD4 T cells cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - Lung v2 (HLCA) - Finest - CD4 T cells Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - Lung v2 (HLCA) - Finest - CD4 T cells cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - Tonsil - L1 - CD4 T Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - Tonsil - L1 - CD4 T cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - Tonsil - L1 - Naive CD4 T Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - Tonsil - L1 - Naive CD4 T cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - Liver - L2 - CD4 T Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - Liver - L2 - CD4 T cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Naive CD4+ T cell_Airway_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Naive CD4+ T cell_Airway_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Activated effector memory CD4+ T cell_Airway_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Activated effector memory CD4+ T cell_Airway_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Memory CD4+ T cell_Airway_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Memory CD4+ T cell_Airway_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Tissue resident memory CD4+ T cell_Airway_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Tissue resident memory CD4+ T cell_Airway_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Effector memory CD4+ T cell_Airway_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Effector memory CD4+ T cell_Airway_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Activated tissue resident memory CD4+ T cell_Airway_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Activated tissue resident memory CD4+ T cell_Airway_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Aorta_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Aorta_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Central memory CD4+ T cell_Arthrosis_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Central memory CD4+ T cell_Arthrosis_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Naive CD4+ T cell_Arthrosis_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Naive CD4+ T cell_Arthrosis_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Naive CD4+ T cell_Bile duct_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Naive CD4+ T cell_Bile duct_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T helper cell_Peripheral blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T helper cell_Peripheral blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+CD25+ regulatory T cell_Peripheral blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+CD25+ regulatory T cell_Peripheral blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Activated CD4+ T cell_Blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Activated CD4+ T cell_Blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Peripheral blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Peripheral blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4-CD28- T cell_Peripheral blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4-CD28- T cell_Peripheral blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4-CD28+ T cell_Peripheral blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4-CD28+ T cell_Peripheral blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Naive CD4+ T cell_Blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Naive CD4+ T cell_Blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Naive CD4+ T cell_Peripheral blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Naive CD4+ T cell_Peripheral blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Effector CD4+ memory T (Tem) cell_Blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Effector CD4+ memory T (Tem) cell_Blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Blood_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Blood_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Memory CD4+ T cell_Peripheral blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Memory CD4+ T cell_Peripheral blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Central memory CD4+ T cell_Blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Central memory CD4+ T cell_Blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Effector CD4+ T cell_Blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Effector CD4+ T cell_Blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Effector memory CD4+ T cell_Blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Effector memory CD4+ T cell_Blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4 T cell_Peripheral blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4 T cell_Peripheral blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Cytotoxic CD4+ T cell_Peripheral blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Cytotoxic CD4+ T cell_Peripheral blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Memory CD4+ T cell_Blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Memory CD4+ T cell_Blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Umbilical cord blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Umbilical cord blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Naive CD4 T cell_Blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Naive CD4 T cell_Blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T helper 1 cell_Plasma_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T helper 1 cell_Plasma_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T helper 17 cell_Plasma_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T helper 17 cell_Plasma_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Effector memory CD4+ T cell_Peripheral blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Effector memory CD4+ T cell_Peripheral blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T helper cell_Blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T helper cell_Blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Exhausted CD4+ T cell_Blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Exhausted CD4+ T cell_Blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Effector CD4+ T cell_Peripheral blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Effector CD4+ T cell_Peripheral blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Regulatory CD4+ T cell_Blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Regulatory CD4+ T cell_Blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Activated CD4+ T cell_Peripheral blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Activated CD4+ T cell_Peripheral blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Central memory CD4+ T cell_Peripheral blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Central memory CD4+ T cell_Peripheral blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Effector memory CD4 T cell_Peripheral blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Effector memory CD4 T cell_Peripheral blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Regulatory CD4 T cell_Peripheral blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Regulatory CD4 T cell_Peripheral blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Naive CD4 T cell_Peripheral blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Naive CD4 T cell_Peripheral blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ cytotoxic T2 cell_Peripheral blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ cytotoxic T2 cell_Peripheral blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ cytotoxic T1 cell_Peripheral blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ cytotoxic T1 cell_Peripheral blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Cytotoxic CD4+ T2 cell_Peripheral blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Cytotoxic CD4+ T2 cell_Peripheral blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ central memory like T (Tcm-like) cell_Peripheral blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ central memory like T (Tcm-like) cell_Peripheral blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ cytotoxic T lymphocyte_Blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ cytotoxic T lymphocyte_Blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ Terminally Differentiated Effector Memory Cell_Blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ Terminally Differentiated Effector Memory Cell_Blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
EMRA CD4+ T cell_Blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the EMRA CD4+ T cell_Blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ tumor antigen-specific T (Tas) cell_Peripheral blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ tumor antigen-specific T (Tas) cell_Peripheral blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Proliferative CD4+ T cell_Peripheral blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Proliferative CD4+ T cell_Peripheral blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Exhausted CD4+ T cell_Peripheral blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Exhausted CD4+ T cell_Peripheral blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Regulatory CD4+ T cell_Peripheral blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Regulatory CD4+ T cell_Peripheral blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Early activated CD4+ T cell_Blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Early activated CD4+ T cell_Blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Cytotoxic CD4+ T cell_Blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Cytotoxic CD4+ T cell_Blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4 T cell_Blood vessel_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4 T cell_Blood vessel_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Blood vessel_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Blood vessel_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Naive CD4+ T cell_Bone marrow_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Naive CD4+ T cell_Bone marrow_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Central memory CD4+ T cell_Bone marrow_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Central memory CD4+ T cell_Bone marrow_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Bone marrow_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Bone marrow_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Bone marrow_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Bone marrow_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Cytotoxic CD4+ T cell_Bone marrow_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Cytotoxic CD4+ T cell_Bone marrow_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4 T follicular helper cell_Bone marrow_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4 T follicular helper cell_Bone marrow_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Naive CD4 T cell_Bone marrow_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Naive CD4 T cell_Bone marrow_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Proliferative CD4+ T cell_Brain_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Proliferative CD4+ T cell_Brain_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Activated CD4+ T cell_Brain_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Activated CD4+ T cell_Brain_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Brain_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Brain_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Chronically activated CD4+ T cell_Brain_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Chronically activated CD4+ T cell_Brain_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Nerve_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Nerve_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Exhausted CD4+ T cell_Brain_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Exhausted CD4+ T cell_Brain_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Brain_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Brain_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Conventional CD4+ T cell_Brain_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Conventional CD4+ T cell_Brain_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Classical CD4+ T cell_Brain_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Classical CD4+ T cell_Brain_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Conventional CD4+ T cell_Brain_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Conventional CD4+ T cell_Brain_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Effector memory CD4+ T cell_Brain_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Effector memory CD4+ T cell_Brain_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Breast_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Breast_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Breast_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Breast_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Naive CD4 T cell_Breast_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Naive CD4 T cell_Breast_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Colon_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Colon_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Esophagus_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Esophagus_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Eye_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Eye_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Conventional CD4 T cell_Head and neck_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Conventional CD4 T cell_Head and neck_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Duodenum_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Duodenum_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Regulatory CD4+ T cell_Intestine_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Regulatory CD4+ T cell_Intestine_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Rectum_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Rectum_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Intestine_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Intestine_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Naive CD4+ T cell_Intestine_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Naive CD4+ T cell_Intestine_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Activated CD4+ T cell_Intestine_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Activated CD4+ T cell_Intestine_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4 peripherally derived regulatory T cell_Intestine_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4 peripherally derived regulatory T cell_Intestine_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Kidney_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Kidney_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Cytotoxic CD4+ T cell_Kidney_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Cytotoxic CD4+ T cell_Kidney_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Liver_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Liver_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Liver_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Liver_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Cytotoxic CD4+ T cell_Liver_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Cytotoxic CD4+ T cell_Liver_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Exhausted CD4+ T cell_Liver_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Exhausted CD4+ T cell_Liver_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Central memory CD4+ T cell_Liver_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Central memory CD4+ T cell_Liver_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Naive CD4 T cell_Liver_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Naive CD4 T cell_Liver_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Naive CD4+ T cell_Liver_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Naive CD4+ T cell_Liver_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Effector CD4+ T cell_Lung_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Effector CD4+ T cell_Lung_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Lung_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Lung_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Bronchoalveolar system_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Bronchoalveolar system_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Naive CD4+ T cell_Bronchial vessel_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Naive CD4+ T cell_Bronchial vessel_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Effector CD4+ T cell_Bronchial vessel_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Effector CD4+ T cell_Bronchial vessel_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Memory CD4+ T cell_Bronchial vessel_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Memory CD4+ T cell_Bronchial vessel_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4 T cell_Lung_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4 T cell_Lung_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Lung_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Lung_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Naive CD4+ T cell_Lymph_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Naive CD4+ T cell_Lymph_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Lymph_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Lymph_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Lymphoid tissue_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Lymphoid tissue_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Lymphoid tissue_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Lymphoid tissue_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Lymph node_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Lymph node_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T helper cell_Lymphoid tissue_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T helper cell_Lymphoid tissue_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+CD25+ regulatory T cell_Lymphoid tissue_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+CD25+ regulatory T cell_Lymphoid tissue_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Memory CD4+ T cell_Lymphoid tissue_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Memory CD4+ T cell_Lymphoid tissue_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Memory CD4+ T cell_Nasal mucosa_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Memory CD4+ T cell_Nasal mucosa_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Sciatic nerve_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Sciatic nerve_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Olfactory neuroepithelium_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Olfactory neuroepithelium_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Ovary_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Ovary_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Effector CD4+ T cell_Ovary_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Effector CD4+ T cell_Ovary_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Ovary_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Ovary_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Myometrium_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Myometrium_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Oviduct_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Oviduct_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Pancreas_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Pancreas_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Pancreas_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Pancreas_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Periodontium_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Periodontium_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Skin_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Skin_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Memory CD4+ T cell_Skin_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Memory CD4+ T cell_Skin_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Memory CD4 T cell_Skin_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Memory CD4 T cell_Skin_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Tissue resident memory CD4+ T cell_Skin_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Tissue resident memory CD4+ T cell_Skin_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Natural killer CD4+ T cell_Skin_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Natural killer CD4+ T cell_Skin_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Naive CD4+ T cell_Skin_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Naive CD4+ T cell_Skin_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Mucosa-associated invariant CD4+ T cell_Skin_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Mucosa-associated invariant CD4+ T cell_Skin_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Effector CD4+ T cell_Skin_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Effector CD4+ T cell_Skin_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T helper cell_Spleen_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T helper cell_Spleen_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+CD25+ regulatory T cell_Spleen_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+CD25+ regulatory T cell_Spleen_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T follicular helper cell_Spleen_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T follicular helper cell_Spleen_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Spleen_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Spleen_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Central memory CD4+ T cell_Spleen_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Central memory CD4+ T cell_Spleen_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Naive CD4 T cell_Spleen_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Naive CD4 T cell_Spleen_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Spleen_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Spleen_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T helper cell_Spleen_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T helper cell_Spleen_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Stomach_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Stomach_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Testis_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Testis_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Naive CD4+ T cell_Thymus_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Naive CD4+ T cell_Thymus_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Thymus_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Thymus_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Thymus_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Thymus_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Tonsil_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Tonsil_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Undefined_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Undefined_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Undefined_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Undefined_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Regulatory CD4+ T cell_Undefined_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Regulatory CD4+ T cell_Undefined_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Central memory CD4+ T cell_Undefined_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Central memory CD4+ T cell_Undefined_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Naive CD4+ T cell_Undefined_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Naive CD4+ T cell_Undefined_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4 T cell_Undefined_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4 T cell_Undefined_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4+ T cell_Ectocervix_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4+ T cell_Ectocervix_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
CD4 T cell_Endometrium_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the CD4 T cell_Endometrium_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Nef Mediated CD4 Down-regulation Gene Setproteins participating in the Nef Mediated CD4 Down-regulation pathway from the Reactome Pathways 2024 dataset. |
Vpu mediated degradation of CD4 Gene Setproteins participating in the Vpu mediated degradation of CD4 pathway from the Reactome Pathways 2024 dataset. |
Large intestine_CT1_surface intraepithelial CD4+ lymphocyte Gene SetFrom HuBMAP ASCT+B Annotations biomarker genes for the Large intestine_CT1_surface intraepithelial CD4+ lymphocyte cell type from the HuBMAP ASCT+B dataset. |
Large intestine_CT1_surface intraepithelial CD4+ lymphocyte Gene SetFrom HuBMAP ASCT+B Augmented with RNA-seq Coexpression biomarker genes for the Large intestine_CT1_surface intraepithelial CD4+ lymphocyte cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset. |
negative regulation of CD4 production Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of CD4 production biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of CD4 production Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of CD4 production biological process from the curated GO Biological Process Annotations 2025 dataset. |
CD4 receptor binding Gene SetFrom GO Molecular Function Annotations 2025 genes performing the CD4 receptor binding molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
Idiopathic CD4 lymphocytopenia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Idiopathic CD4 lymphocytopenia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
HIV progression (CD4 and viral load) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the HIV progression (CD4 and viral load) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
CD4:CD8 lymphocyte ratio Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the CD4:CD8 lymphocyte ratio phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
AUTOLOGOUS CD19 CAR-EXPRESSING CD4+/CD8+ T-CELLS MB-CART19.1 Gene Setinteracting proteins for the AUTOLOGOUS CD19 CAR-EXPRESSING CD4+/CD8+ T-CELLS MB-CART19.1 drug from theDGIdb Drug Targets 2026 dataset. |
RECOMBINANT SOLUBLE HUMAN CD4 PROTEIN Gene Setinteracting proteins for the RECOMBINANT SOLUBLE HUMAN CD4 PROTEIN drug from theDGIdb Drug Targets 2026 dataset. |
AUTOLOGOUS ANTI-CD20 CAR TRANSDUCED CD4/CD8 ENRICHED T-CELLS MB-CART20.1 Gene Setinteracting proteins for the AUTOLOGOUS ANTI-CD20 CAR TRANSDUCED CD4/CD8 ENRICHED T-CELLS MB-CART20.1 drug from theDGIdb Drug Targets 2026 dataset. |
AUTOLOGOUS ANTI-BCMA-CAR-EXPRESSING CD4+/CD8+ T-LYMPHOCYTES FCARH143 Gene Setinteracting proteins for the AUTOLOGOUS ANTI-BCMA-CAR-EXPRESSING CD4+/CD8+ T-LYMPHOCYTES FCARH143 drug from theDGIdb Drug Targets 2026 dataset. |
carcinoma, basal cell; carcinoma, squamous cell; neoplasms, second primary; skin basal cell carcinoma; skin neoplasms; squamous cell carcinoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, basal cell; carcinoma, squamous cell; neoplasms, second primary; skin basal cell carcinoma; skin neoplasms; squamous cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, basal cell; carcinoma, squamous cell; cocarcinogenesis; neoplasms, radiation-induced; skin basal cell carcinoma; skin neoplasms; squamous cell carcinoma; sunburn Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, basal cell; carcinoma, squamous cell; cocarcinogenesis; neoplasms, radiation-induced; skin basal cell carcinoma; skin neoplasms; squamous cell carcinoma; sunburn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, basal cell; carcinoma, squamous cell; melanoma; skin basal cell carcinoma; skin neoplasms; squamous cell carcinoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, basal cell; carcinoma, squamous cell; melanoma; skin basal cell carcinoma; skin neoplasms; squamous cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
b-cell lymphomas; lymphoma, b-cell; lymphoma, large b-cell, diffuse; lymphoma, large-cell, diffuse Gene SetFrom GAD Gene-Disease Associations genes associated with the disease b-cell lymphomas; lymphoma, b-cell; lymphoma, large b-cell, diffuse; lymphoma, large-cell, diffuse in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adenocarcinoma; carcinoma, large cell; carcinoma, non-small-cell lung; carcinoma, squamous cell; lung neoplasms; neoplasm of lung ; squamous cell carcinoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adenocarcinoma; carcinoma, large cell; carcinoma, non-small-cell lung; carcinoma, squamous cell; lung neoplasms; neoplasm of lung ; squamous cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, basal cell; carcinoma, squamous cell; dna damage; skin basal cell carcinoma; skin neoplasms; squamous cell carcinoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, basal cell; carcinoma, squamous cell; dna damage; skin basal cell carcinoma; skin neoplasms; squamous cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, basal cell; carcinoma, squamous cell; postoperative complications; skin basal cell carcinoma; skin neoplasms; squamous cell carcinoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, basal cell; carcinoma, squamous cell; postoperative complications; skin basal cell carcinoma; skin neoplasms; squamous cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, basal cell; carcinoma, squamous cell; skin basal cell carcinoma; skin neoplasms; squamous cell carcinoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, basal cell; carcinoma, squamous cell; skin basal cell carcinoma; skin neoplasms; squamous cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adenocarcinoma; carcinoma, small cell; carcinoma, squamous cell; lung neoplasms; neoplasm of lung ; small cell carcinoma of lung; squamous cell carcinoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adenocarcinoma; carcinoma, small cell; carcinoma, squamous cell; lung neoplasms; neoplasm of lung ; small cell carcinoma of lung; squamous cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, basal cell; carcinoma, squamous cell; melanoma; skin basal cell carcinoma; skin neoplasms; squamous cell carcinoma; sunburn Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, basal cell; carcinoma, squamous cell; melanoma; skin basal cell carcinoma; skin neoplasms; squamous cell carcinoma; sunburn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, basal cell; carcinoma, squamous cell; melanoma; postoperative complications; skin basal cell carcinoma; skin neoplasms; squamous cell carcinoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, basal cell; carcinoma, squamous cell; melanoma; postoperative complications; skin basal cell carcinoma; skin neoplasms; squamous cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adenocarcinoma; carcinoma, giant cell; carcinoma, large cell; carcinoma, non-small-cell lung; carcinoma, squamous cell; lung neoplasms; neoplasm recurrence, local Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adenocarcinoma; carcinoma, giant cell; carcinoma, large cell; carcinoma, non-small-cell lung; carcinoma, squamous cell; lung neoplasms; neoplasm recurrence, local in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cell-cell signaling involved in cell-cell junction organization Gene SetFrom GO Biological Process Annotations 2015 genes participating in the cell-cell signaling involved in cell-cell junction organization biological process from the curated GO Biological Process Annotations 2015 dataset. |
non-small cell large cell lung carcinoma; non-small cell squamous cell lung carcinoma Gene SetFrom PhosphoSitePlus Phosphosite-Disease Associations proteins associated with the disease non-small cell large cell lung carcinoma; non-small cell squamous cell lung carcinoma from the curated PhosphoSitePlus Phosphosite-Disease Associations dataset. |
alpha-thalassemia; anemia; glucosephosphate dehydrogenase deficiency; malaria, falciparum; sickle cell trait Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha-thalassemia; anemia; glucosephosphate dehydrogenase deficiency; malaria, falciparum; sickle cell trait in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha-thalassemia; anemia, sickle cell; glucosephosphate dehydrogenase deficiency; hemolysis; stroke Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha-thalassemia; anemia, sickle cell; glucosephosphate dehydrogenase deficiency; hemolysis; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha-thalassemia; anemia, sickle cell; cholelithiasis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha-thalassemia; anemia, sickle cell; cholelithiasis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha-thalassemia; glucosephosphate dehydrogenase deficiency; malaria, falciparum; sickle cell trait Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha-thalassemia; glucosephosphate dehydrogenase deficiency; malaria, falciparum; sickle cell trait in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Glial cell line-derived neurotrophic factor receptor alpha 2 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glial cell line-derived neurotrophic factor receptor alpha 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Glial cell line-derived neurotrophic factor receptor, alpha 1/2 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glial cell line-derived neurotrophic factor receptor, alpha 1/2 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Glial cell line-derived neurotrophic factor receptor, alpha 1 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glial cell line-derived neurotrophic factor receptor, alpha 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Glial cell line-derived neurotrophic factor receptor, alpha 3 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glial cell line-derived neurotrophic factor receptor, alpha 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
abnormal pancreatic alpha cell morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal pancreatic alpha cell morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal t cell receptor alpha chain v-j recombination Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal t cell receptor alpha chain v-j recombination phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
increased pancreatic alpha cell number Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the increased pancreatic alpha cell number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal pancreatic alpha cell differentiation Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal pancreatic alpha cell differentiation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
decreased pancreatic alpha cell number Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the decreased pancreatic alpha cell number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal pancreatic alpha cell physiology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal pancreatic alpha cell physiology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
alpha-tc1.9 cell Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue alpha-tc1.9 cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
alpha-tc1.6 cell Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue alpha-tc1.6 cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
pancreatic alpha cell line Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue pancreatic alpha cell line in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
pancreatic alpha cell Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue pancreatic alpha cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
Pancreas-pancreatic alpha cell Gene SetFrom Tabula Sapiens Gene-Cell Associations genes with high or low expression in Pancreas-pancreatic alpha cell relative to other cell types from the Tabula Sapiens Gene-Cell Associations dataset. |
decreased pancreatic alpha cell number Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased pancreatic alpha cell number phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased pancreatic alpha cell number Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased pancreatic alpha cell number phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal pancreatic alpha cell morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal pancreatic alpha cell morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased pancreatic alpha cell mass Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased pancreatic alpha cell mass phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal pancreatic alpha cell differentiation Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal pancreatic alpha cell differentiation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased pancreatic alpha cell proliferation Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased pancreatic alpha cell proliferation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal pancreatic alpha cell mass Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal pancreatic alpha cell mass phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
decreased pancreatic alpha cell mass Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased pancreatic alpha cell mass phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal T cell receptor alpha chain V-J recombination Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal T cell receptor alpha chain V-J recombination phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Human - Pancreas - L1 - alpha islet cell Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - Pancreas - L1 - alpha islet cell cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Stem-cell-derived-alpha cell_Undefined_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Stem-cell-derived-alpha cell_Undefined_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Pancreatic alpha cell Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Pancreatic alpha cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
Pancreatic alpha cell line Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Pancreatic alpha cell line in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
alpha-TC1.9 cell Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue alpha-TC1.9 cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
alpha-TC1.6 cell Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue alpha-TC1.6 cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
BWZ.36 CD8 alpha cell Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue BWZ.36 CD8 alpha cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
carcinoma, non-small-cell lung; lung neoplasms; neoplasm of lung ; radiation pneumonitis; small cell carcinoma of lung; small cell lung carcinoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, non-small-cell lung; lung neoplasms; neoplasm of lung ; radiation pneumonitis; small cell carcinoma of lung; small cell lung carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, squamous cell; cell transformation, neoplastic; laryngeal neoplasm; laryngeal neoplasms; squamous cell carcinoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, squamous cell; cell transformation, neoplastic; laryngeal neoplasm; laryngeal neoplasms; squamous cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adenocarcinoma; barrett esophagus; carcinoma, squamous cell; cell transformation, neoplastic; esophageal neoplasms; oesophageal neoplasm; squamous cell carcinoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adenocarcinoma; barrett esophagus; carcinoma, squamous cell; cell transformation, neoplastic; esophageal neoplasms; oesophageal neoplasm; squamous cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
leukemia, lymphocytic, acute, l1; leukemia, lymphocytic, acute, l2; leukemia, pre-b-cell; precursor b-cell lymphoblastic leukemia-lymphoma; precursor cell lymphoblastic leukemia-lymphoma; translocation, genetic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease leukemia, lymphocytic, acute, l1; leukemia, lymphocytic, acute, l2; leukemia, pre-b-cell; precursor b-cell lymphoblastic leukemia-lymphoma; precursor cell lymphoblastic leukemia-lymphoma; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, squamous cell; cell transformation, viral; cervical intraepithelial neoplasia; cervical neoplasm; papillomavirus infections; squamous cell carcinoma; uterine cervical neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, squamous cell; cell transformation, viral; cervical intraepithelial neoplasia; cervical neoplasm; papillomavirus infections; squamous cell carcinoma; uterine cervical neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cell transformation, neoplastic; leukemia, lymphocytic, chronic, b-cell; lymphoma, large b-cell, diffuse Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cell transformation, neoplastic; leukemia, lymphocytic, chronic, b-cell; lymphoma, large b-cell, diffuse in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia; anemia, sickle cell; hemoglobin c disease; hemoglobin sc disease; heterozygous haemoglobin s; malaria, falciparum; parasitemia; sickle cell anemia; sickle cell trait Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia; anemia, sickle cell; hemoglobin c disease; hemoglobin sc disease; heterozygous haemoglobin s; malaria, falciparum; parasitemia; sickle cell anemia; sickle cell trait in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acute t cell leukemia; burkitt lymphoma; burkitt; acute lymphoblastic leukemia (type); leukemia, lymphocytic, acute, l1; leukemia-lymphoma, adult t-cell; precursor cell lymphoblastic leukemia-lymphoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acute t cell leukemia; burkitt lymphoma; burkitt; acute lymphoblastic leukemia (type); leukemia, lymphocytic, acute, l1; leukemia-lymphoma, adult t-cell; precursor cell lymphoblastic leukemia-lymphoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, sickle cell; heterozygous haemoglobin s; malaria; sickle cell anemia; sickle cell trait Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, sickle cell; heterozygous haemoglobin s; malaria; sickle cell anemia; sickle cell trait in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adenocarcinoma; carcinoma, non-small-cell lung; carcinoma, squamous cell; colorectal neoplasms; head and neck neoplasms; lung neoplasms; neoplasm of lung ; squamous cell carcinoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adenocarcinoma; carcinoma, non-small-cell lung; carcinoma, squamous cell; colorectal neoplasms; head and neck neoplasms; lung neoplasms; neoplasm of lung ; squamous cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adenocarcinoma; carcinoma, non-small-cell lung; carcinoma, squamous cell; lung neoplasms; neoplasm of lung ; squamous cell carcinoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adenocarcinoma; carcinoma, non-small-cell lung; carcinoma, squamous cell; lung neoplasms; neoplasm of lung ; squamous cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, squamous cell; cell transformation, neoplastic; esophageal neoplasms; oesophageal neoplasm; squamous cell carcinoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, squamous cell; cell transformation, neoplastic; esophageal neoplasms; oesophageal neoplasm; squamous cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, squamous cell; cell transformation, neoplastic; skin neoplasms; squamous cell carcinoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, squamous cell; cell transformation, neoplastic; skin neoplasms; squamous cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
regulation of t cell activation via t cell receptor contact with antigen bound to mhc molecule on antigen presenting cell Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of t cell activation via t cell receptor contact with antigen bound to mhc molecule on antigen presenting cell biological process from the curated GO Biological Process Annotations 2015 dataset. |
cell-cell signaling involved in cell fate commitment Gene SetFrom GO Biological Process Annotations 2015 genes participating in the cell-cell signaling involved in cell fate commitment biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of t cell activation via t cell receptor contact with antigen bound to mhc molecule on antigen presenting cell Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of t cell activation via t cell receptor contact with antigen bound to mhc molecule on antigen presenting cell biological process from the curated GO Biological Process Annotations 2015 dataset. |
heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules Gene SetFrom GO Biological Process Annotations 2015 genes participating in the heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules biological process from the curated GO Biological Process Annotations 2015 dataset. |
calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules Gene SetFrom GO Biological Process Annotations 2015 genes participating in the calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules biological process from the curated GO Biological Process Annotations 2015 dataset. |
calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules Gene SetFrom GO Biological Process Annotations 2015 genes participating in the calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules biological process from the curated GO Biological Process Annotations 2015 dataset. |
t cell activation via t cell receptor contact with antigen bound to mhc molecule on antigen presenting cell Gene SetFrom GO Biological Process Annotations 2015 genes participating in the t cell activation via t cell receptor contact with antigen bound to mhc molecule on antigen presenting cell biological process from the curated GO Biological Process Annotations 2015 dataset. |
calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules Gene SetFrom GO Biological Process Annotations 2023 genes participating in the calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules biological process from the curated GO Biological Process Annotations 2023 dataset. |
heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules Gene SetFrom GO Biological Process Annotations 2023 genes participating in the heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules biological process from the curated GO Biological Process Annotations 2023 dataset. |
T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell Gene SetFrom GO Biological Process Annotations 2023 genes participating in the T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell biological process from the curated GO Biological Process Annotations 2023 dataset. |
cell surface receptor signaling pathway involved in cell-cell signaling Gene SetFrom GO Biological Process Annotations 2023 genes participating in the cell surface receptor signaling pathway involved in cell-cell signaling biological process from the curated GO Biological Process Annotations 2023 dataset. |
calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules Gene SetFrom GO Biological Process Annotations 2023 genes participating in the calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell biological process from the curated GO Biological Process Annotations 2023 dataset. |
AV node cell-bundle of His cell adhesion involved in cell communication Gene SetFrom GO Biological Process Annotations 2023 genes participating in the AV node cell-bundle of His cell adhesion involved in cell communication biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell biological process from the curated GO Biological Process Annotations 2023 dataset. |
cell-cell signaling involved in cell fate commitment Gene SetFrom GO Biological Process Annotations 2023 genes participating in the cell-cell signaling involved in cell fate commitment biological process from the curated GO Biological Process Annotations 2023 dataset. |
cell adhesive protein binding involved in AV node cell-bundle of His cell communication Gene SetFrom GO Molecular Function Annotations 2023 genes performing the cell adhesive protein binding involved in AV node cell-bundle of His cell communication molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules Gene SetFrom GO Biological Process Annotations 2025 genes participating in the calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules biological process from the curated GO Biological Process Annotations 2025 dataset. |
heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules Gene SetFrom GO Biological Process Annotations 2025 genes participating in the heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules biological process from the curated GO Biological Process Annotations 2025 dataset. |
T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell Gene SetFrom GO Biological Process Annotations 2025 genes participating in the T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell biological process from the curated GO Biological Process Annotations 2025 dataset. |
calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules Gene SetFrom GO Biological Process Annotations 2025 genes participating in the calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell biological process from the curated GO Biological Process Annotations 2025 dataset. |
cerebellar Purkinje cell-granule cell precursor cell signaling Gene SetFrom GO Biological Process Annotations 2025 genes participating in the cerebellar Purkinje cell-granule cell precursor cell signaling biological process from the curated GO Biological Process Annotations 2025 dataset. |
AV node cell-bundle of His cell adhesion involved in cell communication Gene SetFrom GO Biological Process Annotations 2025 genes participating in the AV node cell-bundle of His cell adhesion involved in cell communication biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell biological process from the curated GO Biological Process Annotations 2025 dataset. |
cell-cell signaling involved in cell fate commitment Gene SetFrom GO Biological Process Annotations 2025 genes participating in the cell-cell signaling involved in cell fate commitment biological process from the curated GO Biological Process Annotations 2025 dataset. |
cell adhesive protein binding involved in AV node cell-bundle of His cell communication Gene SetFrom GO Molecular Function Annotations 2025 genes performing the cell adhesive protein binding involved in AV node cell-bundle of His cell communication molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
alpha-synuclein and parkin-mediated proteolysis in parkinson`s disease Gene SetFrom Biocarta Pathways proteins participating in the alpha-synuclein and parkin-mediated proteolysis in parkinson`s disease pathway from the Biocarta Pathways dataset. |
ifn alpha signaling pathway Gene SetFrom Biocarta Pathways proteins participating in the ifn alpha signaling pathway pathway from the Biocarta Pathways dataset. |
Alpha-B crystallinopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alpha-B crystallinopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alpha trait thalassemia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alpha trait thalassemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
alpha Thalassemia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the alpha Thalassemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alpha-fetoprotein, hereditary persistence of Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alpha-fetoprotein, hereditary persistence of phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alpha-fetoprotein deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alpha-fetoprotein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate dehydrogenase E1-alpha deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate dehydrogenase E1-alpha deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of alpha-mannosidase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of alpha-mannosidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
alpha-estradiol-122 Gene SetFrom CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the alpha-estradiol-122 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
alpha-estradiol-6169 Gene SetFrom CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the alpha-estradiol-6169 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
alpha-ergocryptine-4552 Gene SetFrom CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the alpha-ergocryptine-4552 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
alpha-ergocryptine-4374 Gene SetFrom CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the alpha-ergocryptine-4374 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
alpha-yohimbine-6274 Gene SetFrom CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the alpha-yohimbine-6274 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
alpha-yohimbine-5800 Gene SetFrom CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the alpha-yohimbine-5800 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
dl-alpha tocopherol-4961 Gene SetFrom CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the dl-alpha tocopherol-4961 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
dl-alpha tocopherol-6616 Gene SetFrom CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the dl-alpha tocopherol-6616 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
alpha-estradiol-702 Gene SetFrom CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the alpha-estradiol-702 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
alpha-estradiol-4434 Gene SetFrom CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the alpha-estradiol-4434 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
alpha-estradiol-1151 Gene SetFrom CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the alpha-estradiol-1151 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
dl-alpha tocopherol-1320 Gene SetFrom CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the dl-alpha tocopherol-1320 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
alpha-estradiol-5207 Gene SetFrom CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the alpha-estradiol-5207 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
alpha-estradiol-762 Gene SetFrom CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the alpha-estradiol-762 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
alpha-estradiol-6970 Gene SetFrom CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the alpha-estradiol-6970 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
alpha-estradiol-1048 Gene SetFrom CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the alpha-estradiol-1048 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
alpha-estradiol-6930 Gene SetFrom CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the alpha-estradiol-6930 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
alpha-estradiol-1635 Gene SetFrom CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the alpha-estradiol-1635 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
alpha-estradiol-1210 Gene SetFrom CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the alpha-estradiol-1210 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
alpha-estradiol-403 Gene SetFrom CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the alpha-estradiol-403 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
alpha-ergocryptine-3434 Gene SetFrom CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the alpha-ergocryptine-3434 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
alpha-yohimbine-2778 Gene SetFrom CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the alpha-yohimbine-2778 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
alpha-ergocryptine-3900 Gene SetFrom CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the alpha-ergocryptine-3900 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
alpha-estradiol-5570 Gene SetFrom CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the alpha-estradiol-5570 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
dl-alpha tocopherol-3256 Gene SetFrom CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the dl-alpha tocopherol-3256 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
alpha-ergocryptine-2572 Gene SetFrom CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the alpha-ergocryptine-2572 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
alpha-ergocryptine-3817 Gene SetFrom CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the alpha-ergocryptine-3817 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
alpha-estradiol-2670 Gene SetFrom CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the alpha-estradiol-2670 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
alpha-estradiol-990 Gene SetFrom CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the alpha-estradiol-990 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
mitochondrial alpha-ketoglutarate dehydrogenase complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the mitochondrial alpha-ketoglutarate dehydrogenase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
alpha dna polymerase:primase complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the alpha dna polymerase:primase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
proteasome core complex, alpha-subunit complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the proteasome core complex, alpha-subunit complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
platelet alpha granule membrane Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the platelet alpha granule membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
platelet alpha granule lumen Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the platelet alpha granule lumen cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
platelet alpha granule Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the platelet alpha granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
mitochondrial alpha-ketoglutarate dehydrogenase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the mitochondrial alpha-ketoglutarate dehydrogenase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
alpha dna polymerase:primase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the alpha dna polymerase:primase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
platelet alpha granule membrane Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the platelet alpha granule membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
fc-alpha receptor i complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the fc-alpha receptor i complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
platelet alpha granule Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the platelet alpha granule cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
p130Cas-ER-alpha-cSrc-kinase- PI3-kinase p85-subunit complex Gene Setproteins in the p130Cas-ER-alpha-cSrc-kinase- PI3-kinase p85-subunit complex protein complex from the CORUM Protein Complexes dataset. |
MutS-alpha-PK-zeta complex Gene Setproteins in the MutS-alpha-PK-zeta complex protein complex from the CORUM Protein Complexes dataset. |
GluR delta-2 complex, postsynaptic (GluR delta-2, Shank1, Shank2, mGluR1 alpha, Homer, PSD-95) Gene Setproteins in the GluR delta-2 complex, postsynaptic (GluR delta-2, Shank1, Shank2, mGluR1 alpha, Homer, PSD-95) protein complex from the CORUM Protein Complexes dataset. |
PCNA-MutS-alpha-DNA initial complex Gene Setproteins in the PCNA-MutS-alpha-DNA initial complex protein complex from the CORUM Protein Complexes dataset. |
TNF-alpha/Nf-kappa B signaling complex (RPL6, RPL30, RPS13, CHUK, DDX3X, NFKB2, NFKBIB, REL, IKBKG, NFKB1, MAP3K8, RELB, GLG1, NFKBIA, RELA, TNIP2, GTF2I) Gene Setproteins in the TNF-alpha/Nf-kappa B signaling complex (RPL6, RPL30, RPS13, CHUK, DDX3X, NFKB2, NFKBIB, REL, IKBKG, NFKB1, MAP3K8, RELB, GLG1, NFKBIA, RELA, TNIP2, GTF2I) protein complex from the CORUM Protein Complexes dataset. |
DNA polymerase alpha-primase complex Gene Setproteins in the DNA polymerase alpha-primase complex protein complex from the CORUM Protein Complexes dataset. |
MutL-alpha complex Gene Setproteins in the MutL-alpha complex protein complex from the CORUM Protein Complexes dataset. |
PKC-alpha-PLD1-PLC-gamma-2 signaling complex, lacritin stimulated Gene Setproteins in the PKC-alpha-PLD1-PLC-gamma-2 signaling complex, lacritin stimulated protein complex from the CORUM Protein Complexes dataset. |
DNA polymerase alpha Gene Setproteins in the DNA polymerase alpha protein complex from the CORUM Protein Complexes dataset. |
SLP-76-PLC-gamma-1-ITK complex, alpha-TCR stimulated Gene Setproteins in the SLP-76-PLC-gamma-1-ITK complex, alpha-TCR stimulated protein complex from the CORUM Protein Complexes dataset. |
ER-alpha-c-Jun complex Gene Setproteins in the ER-alpha-c-Jun complex protein complex from the CORUM Protein Complexes dataset. |
TNF-alpha/NF-kappa B signaling complex (SEC16A, CHUK, IKBKB, NFKB2, REL, IKBKG, MAP3K14, RELA, FBXW7, USP2) Gene Setproteins in the TNF-alpha/NF-kappa B signaling complex (SEC16A, CHUK, IKBKB, NFKB2, REL, IKBKG, MAP3K14, RELA, FBXW7, USP2) protein complex from the CORUM Protein Complexes dataset. |
MutS-alpha complex Gene Setproteins in the MutS-alpha complex protein complex from the CORUM Protein Complexes dataset. |
NEMO-HIF2(alpha)-ARNT complex Gene Setproteins in the NEMO-HIF2(alpha)-ARNT complex protein complex from the CORUM Protein Complexes dataset. |
TRP1-G alpha-11-IP3R3-CAV1 signaling complex Gene Setproteins in the TRP1-G alpha-11-IP3R3-CAV1 signaling complex protein complex from the CORUM Protein Complexes dataset. |
TNF-alpha/NF-kappa B signaling complex 10 Gene Setproteins in the TNF-alpha/NF-kappa B signaling complex 10 protein complex from the CORUM Protein Complexes dataset. |
Prolyl 4-hydroxylase (alpha(I)-type) Gene Setproteins in the Prolyl 4-hydroxylase (alpha(I)-type) protein complex from the CORUM Protein Complexes dataset. |
Kir4.1-alpha-1-syntrophin complex, whole brain lysate Gene Setproteins in the Kir4.1-alpha-1-syntrophin complex, whole brain lysate protein complex from the CORUM Protein Complexes dataset. |
AGO2-FXR1-TNF(alpha)ARE-RNP complex Gene Setproteins in the AGO2-FXR1-TNF(alpha)ARE-RNP complex protein complex from the CORUM Protein Complexes dataset. |
TNF-alpha/NF-kappa B signaling complex (CHUK, BTRC, NFKB2, PPP6C, REL, CUL1, IKBKE, SAPS2, SAPS1, ANKRD28, RELA, SKP1) Gene Setproteins in the TNF-alpha/NF-kappa B signaling complex (CHUK, BTRC, NFKB2, PPP6C, REL, CUL1, IKBKE, SAPS2, SAPS1, ANKRD28, RELA, SKP1) protein complex from the CORUM Protein Complexes dataset. |
TNF-alpha/NF-kappa B signaling complex 8 Gene Setproteins in the TNF-alpha/NF-kappa B signaling complex 8 protein complex from the CORUM Protein Complexes dataset. |
TNF-alpha/NF-kappa B signaling complex 9 Gene Setproteins in the TNF-alpha/NF-kappa B signaling complex 9 protein complex from the CORUM Protein Complexes dataset. |
TNF-alpha/NF-kappa B signaling complex 7 Gene Setproteins in the TNF-alpha/NF-kappa B signaling complex 7 protein complex from the CORUM Protein Complexes dataset. |
TNF-alpha/NF-kappa B signaling complex 5 Gene Setproteins in the TNF-alpha/NF-kappa B signaling complex 5 protein complex from the CORUM Protein Complexes dataset. |
LRP-1-Alpha-2-M-annexin VI complex Gene Setproteins in the LRP-1-Alpha-2-M-annexin VI complex protein complex from the CORUM Protein Complexes dataset. |
SLP-76-PLC-gamma-1-VAV complex, alpha-TCR stimulated Gene Setproteins in the SLP-76-PLC-gamma-1-VAV complex, alpha-TCR stimulated protein complex from the CORUM Protein Complexes dataset. |
Kir4.1-alpha-1-syntrophin complex, cortical astrocytes Gene Setproteins in the Kir4.1-alpha-1-syntrophin complex, cortical astrocytes protein complex from the CORUM Protein Complexes dataset. |
MutS-alpha-histone H4 complex Gene Setproteins in the MutS-alpha-histone H4 complex protein complex from the CORUM Protein Complexes dataset. |
NuMA-LGN-G-alpha-i-1 complex Gene Setproteins in the NuMA-LGN-G-alpha-i-1 complex protein complex from the CORUM Protein Complexes dataset. |
Affixin-actinin(alpha) complex Gene Setproteins in the Affixin-actinin(alpha) complex protein complex from the CORUM Protein Complexes dataset. |
ER-alpha-GRIP1-c-Jun complex Gene Setproteins in the ER-alpha-GRIP1-c-Jun complex protein complex from the CORUM Protein Complexes dataset. |
Prolyl 4-hydroxylase (alpha(III)-type) Gene Setproteins in the Prolyl 4-hydroxylase (alpha(III)-type) protein complex from the CORUM Protein Complexes dataset. |
Stat1-alpha-dimer-CBP DNA-protein complex Gene Setproteins in the Stat1-alpha-dimer-CBP DNA-protein complex protein complex from the CORUM Protein Complexes dataset. |
Er-alpha-p53-hdm2 complex Gene Setproteins in the Er-alpha-p53-hdm2 complex protein complex from the CORUM Protein Complexes dataset. |
I(kappa)B(alpha)-NF(kappa)Bp50-NF(kappa)Bp65 complex Gene Setproteins in the I(kappa)B(alpha)-NF(kappa)Bp50-NF(kappa)Bp65 complex protein complex from the CORUM Protein Complexes dataset. |
Protein kinase A II alpha homodimer complex Gene Setproteins in the Protein kinase A II alpha homodimer complex protein complex from the CORUM Protein Complexes dataset. |
TNF-alpha/NF-kappa B signaling complex (CHUK, KPNA3, NFKB2, NFKBIB, REL, IKBKG, NFKB1, NFKBIE, RELB, NFKBIA, RELA, TNIP2) Gene Setproteins in the TNF-alpha/NF-kappa B signaling complex (CHUK, KPNA3, NFKB2, NFKBIB, REL, IKBKG, NFKB1, NFKBIE, RELB, NFKBIA, RELA, TNIP2) protein complex from the CORUM Protein Complexes dataset. |
TNF-alpha/NF-kappa B signaling complex 6 Gene Setproteins in the TNF-alpha/NF-kappa B signaling complex 6 protein complex from the CORUM Protein Complexes dataset. |
IKB(alpha)-RELA-cREL complex Gene Setproteins in the IKB(alpha)-RELA-cREL complex protein complex from the CORUM Protein Complexes dataset. |
alpha-naphthyl thiourea Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-naphthyl thiourea from the curated CTD Gene-Chemical Interactions dataset. |
alpha-MSH Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-MSH from the curated CTD Gene-Chemical Interactions dataset. |
alpha-hydroxyglutarate Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-hydroxyglutarate from the curated CTD Gene-Chemical Interactions dataset. |
alpha-methyldopamine Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-methyldopamine from the curated CTD Gene-Chemical Interactions dataset. |
16 alpha,17-epoxyprogesterone Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical 16 alpha,17-epoxyprogesterone from the curated CTD Gene-Chemical Interactions dataset. |
alpha helical corticotropin-releasing hormone Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha helical corticotropin-releasing hormone from the curated CTD Gene-Chemical Interactions dataset. |
16 alpha-iodoestradiol Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical 16 alpha-iodoestradiol from the curated CTD Gene-Chemical Interactions dataset. |
alpha-phenyl-1-(2-phenylethyl)-4-piperidinemethanol Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-phenyl-1-(2-phenylethyl)-4-piperidinemethanol from the curated CTD Gene-Chemical Interactions dataset. |
alpha-(4-pyridyl-1-oxide)-N-tert-butylnitrone Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-(4-pyridyl-1-oxide)-N-tert-butylnitrone from the curated CTD Gene-Chemical Interactions dataset. |
conotoxin alpha-RgIA, Conus regius Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical conotoxin alpha-RgIA, Conus regius from the curated CTD Gene-Chemical Interactions dataset. |
alpha-cyano-(3,4-dihydroxy)-N-benzylcinnamide Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-cyano-(3,4-dihydroxy)-N-benzylcinnamide from the curated CTD Gene-Chemical Interactions dataset. |
2-methylene-19-nor-(20S)-1 alpha-hydroxy-bishomopregnacalciferol Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical 2-methylene-19-nor-(20S)-1 alpha-hydroxy-bishomopregnacalciferol from the curated CTD Gene-Chemical Interactions dataset. |
methotrexate-alpha glutamate Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical methotrexate-alpha glutamate from the curated CTD Gene-Chemical Interactions dataset. |
alpha-viniferin Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-viniferin from the curated CTD Gene-Chemical Interactions dataset. |
cholesterol alpha-oxide Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical cholesterol alpha-oxide from the curated CTD Gene-Chemical Interactions dataset. |
alpha-cobratoxin Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-cobratoxin from the curated CTD Gene-Chemical Interactions dataset. |
alpha-Amino-3-hydroxy-5-methyl-4-isoxazolepropionic Acid Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-Amino-3-hydroxy-5-methyl-4-isoxazolepropionic Acid from the curated CTD Gene-Chemical Interactions dataset. |
pregnanediol-3 alpha-glucuronide Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical pregnanediol-3 alpha-glucuronide from the curated CTD Gene-Chemical Interactions dataset. |
S(alpha)-methyl-6-(2-quinolinylmethoxy)-2-naphthaleneacetic acid Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical S(alpha)-methyl-6-(2-quinolinylmethoxy)-2-naphthaleneacetic acid from the curated CTD Gene-Chemical Interactions dataset. |
alpha-pyrrolidinovalerophenone Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-pyrrolidinovalerophenone from the curated CTD Gene-Chemical Interactions dataset. |
1 alpha,24-dihydroxyvitamin D3 Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical 1 alpha,24-dihydroxyvitamin D3 from the curated CTD Gene-Chemical Interactions dataset. |
alpha-methyl-4-carboxyphenylglycine Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-methyl-4-carboxyphenylglycine from the curated CTD Gene-Chemical Interactions dataset. |
N-acetyl-S-(alpha-methyl-4-(2-methylpropyl)benzeneacetyl)cysteine 4-(nitrooxy)butyl ester Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical N-acetyl-S-(alpha-methyl-4-(2-methylpropyl)benzeneacetyl)cysteine 4-(nitrooxy)butyl ester from the curated CTD Gene-Chemical Interactions dataset. |
17-alpha-Hydroxyprogesterone Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical 17-alpha-Hydroxyprogesterone from the curated CTD Gene-Chemical Interactions dataset. |
tocotrienol, alpha Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical tocotrienol, alpha from the curated CTD Gene-Chemical Interactions dataset. |
alpha-fluoromethylhistamine Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-fluoromethylhistamine from the curated CTD Gene-Chemical Interactions dataset. |
alpha-galactosylceramide Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-galactosylceramide from the curated CTD Gene-Chemical Interactions dataset. |
alpha-benzoylamino-1,4-naphthoquinone Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-benzoylamino-1,4-naphthoquinone from the curated CTD Gene-Chemical Interactions dataset. |
alpha-hederin Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-hederin from the curated CTD Gene-Chemical Interactions dataset. |
5-(alpha-methyl-4-bromobenzylamino)phosphonomethyl-1,4-dihydroquinoxaline-2,3-dione Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical 5-(alpha-methyl-4-bromobenzylamino)phosphonomethyl-1,4-dihydroquinoxaline-2,3-dione from the curated CTD Gene-Chemical Interactions dataset. |
7 alpha-hydroxy-4-cholesten-3-one Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical 7 alpha-hydroxy-4-cholesten-3-one from the curated CTD Gene-Chemical Interactions dataset. |
alpha-benzyl-N-methylphenethylamine Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-benzyl-N-methylphenethylamine from the curated CTD Gene-Chemical Interactions dataset. |
6-Ketoprostaglandin F1 alpha Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical 6-Ketoprostaglandin F1 alpha from the curated CTD Gene-Chemical Interactions dataset. |
17-alpha-Hydroxypregnenolone Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical 17-alpha-Hydroxypregnenolone from the curated CTD Gene-Chemical Interactions dataset. |
alpha-glycerophosphoric acid Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-glycerophosphoric acid from the curated CTD Gene-Chemical Interactions dataset. |
alpha-methylhistamine Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-methylhistamine from the curated CTD Gene-Chemical Interactions dataset. |
alpha-ketobutyric acid Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-ketobutyric acid from the curated CTD Gene-Chemical Interactions dataset. |
17 alpha-iodoethynylestradiol Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical 17 alpha-iodoethynylestradiol from the curated CTD Gene-Chemical Interactions dataset. |
alpha-hexachlorocyclohexane Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-hexachlorocyclohexane from the curated CTD Gene-Chemical Interactions dataset. |
MSH, 4-Nle-7-Phe-alpha- Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical MSH, 4-Nle-7-Phe-alpha- from the curated CTD Gene-Chemical Interactions dataset. |
20-alpha-dihydrodydrogesterone Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical 20-alpha-dihydrodydrogesterone from the curated CTD Gene-Chemical Interactions dataset. |
alpha-cyano-4-hydroxycinnamate Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-cyano-4-hydroxycinnamate from the curated CTD Gene-Chemical Interactions dataset. |
N,N-diallyl-tyrosyl-alpha-aminoisobutyric acid-phenylalanyl-leucine Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical N,N-diallyl-tyrosyl-alpha-aminoisobutyric acid-phenylalanyl-leucine from the curated CTD Gene-Chemical Interactions dataset. |
5-S-glutathionyl-alpha-methyldopa Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical 5-S-glutathionyl-alpha-methyldopa from the curated CTD Gene-Chemical Interactions dataset. |
alpha-amino-3-hydroxy-5-tert-butyl-4-isoxazolepropionate Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-amino-3-hydroxy-5-tert-butyl-4-isoxazolepropionate from the curated CTD Gene-Chemical Interactions dataset. |
Alpha-Amanitin Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical Alpha-Amanitin from the curated CTD Gene-Chemical Interactions dataset. |
allopregnan-20 alpha-ol-3-one Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical allopregnan-20 alpha-ol-3-one from the curated CTD Gene-Chemical Interactions dataset. |
alpha-conotoxin MII Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-conotoxin MII from the curated CTD Gene-Chemical Interactions dataset. |
alpha-Linolenic Acid Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-Linolenic Acid from the curated CTD Gene-Chemical Interactions dataset. |
alpha-carotene Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-carotene from the curated CTD Gene-Chemical Interactions dataset. |
alpha-ketoglutaric acid Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-ketoglutaric acid from the curated CTD Gene-Chemical Interactions dataset. |
5-amino-2,4-dihydroxy-alpha-methylphenylethylamine Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical 5-amino-2,4-dihydroxy-alpha-methylphenylethylamine from the curated CTD Gene-Chemical Interactions dataset. |
alpha-pentyl-3-(2-quinolinylmethoxy)benzenemethanol Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-pentyl-3-(2-quinolinylmethoxy)benzenemethanol from the curated CTD Gene-Chemical Interactions dataset. |
16 alpha-ethyl-21-hydroxy-19-nor-4-pregnene-3,20-dione Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical 16 alpha-ethyl-21-hydroxy-19-nor-4-pregnene-3,20-dione from the curated CTD Gene-Chemical Interactions dataset. |
alpha-naphthoflavone Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-naphthoflavone from the curated CTD Gene-Chemical Interactions dataset. |
alpha-latrotoxin Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-latrotoxin from the curated CTD Gene-Chemical Interactions dataset. |
alpha-Chlorohydrin Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-Chlorohydrin from the curated CTD Gene-Chemical Interactions dataset. |
methylumbelliferyl-alpha-D-mannopyranoside Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical methylumbelliferyl-alpha-D-mannopyranoside from the curated CTD Gene-Chemical Interactions dataset. |
N-alpha-(2-carboxyl)benzoyl-N5-(2-chloro-1-iminoethyl)ornithine amide Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical N-alpha-(2-carboxyl)benzoyl-N5-(2-chloro-1-iminoethyl)ornithine amide from the curated CTD Gene-Chemical Interactions dataset. |
alpha-naphthyl isocyanate Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-naphthyl isocyanate from the curated CTD Gene-Chemical Interactions dataset. |
alpha 1-Antitrypsin Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha 1-Antitrypsin from the curated CTD Gene-Chemical Interactions dataset. |
N-alpha-(2-carboxyl)benzoyl-N5-(2-fluoro-1-iminoethyl)ornithine amide Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical N-alpha-(2-carboxyl)benzoyl-N5-(2-fluoro-1-iminoethyl)ornithine amide from the curated CTD Gene-Chemical Interactions dataset. |
staphylococcal alpha-toxin Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical staphylococcal alpha-toxin from the curated CTD Gene-Chemical Interactions dataset. |
alpha-(4-fluorophenyl)-4-(5-fluoro-2-pyrimidinyl)-1-piperazine butanol Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-(4-fluorophenyl)-4-(5-fluoro-2-pyrimidinyl)-1-piperazine butanol from the curated CTD Gene-Chemical Interactions dataset. |
20-alpha-Dihydroprogesterone Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical 20-alpha-Dihydroprogesterone from the curated CTD Gene-Chemical Interactions dataset. |
3',4'-dimethoxy-alpha-naphthoflavone Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical 3',4'-dimethoxy-alpha-naphthoflavone from the curated CTD Gene-Chemical Interactions dataset. |
alpha-methylepinine Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-methylepinine from the curated CTD Gene-Chemical Interactions dataset. |
N-tert-butyl-alpha-(4-nitrophenyl)nitrone Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical N-tert-butyl-alpha-(4-nitrophenyl)nitrone from the curated CTD Gene-Chemical Interactions dataset. |
alpha-conotoxin ImI Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-conotoxin ImI from the curated CTD Gene-Chemical Interactions dataset. |
alpha-hydroxyalprazolam Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-hydroxyalprazolam from the curated CTD Gene-Chemical Interactions dataset. |
17-alpha-hydroxy-progesterone caproate Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical 17-alpha-hydroxy-progesterone caproate from the curated CTD Gene-Chemical Interactions dataset. |
5-alpha-Dihydroprogesterone Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical 5-alpha-Dihydroprogesterone from the curated CTD Gene-Chemical Interactions dataset. |
oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine from the curated CTD Gene-Chemical Interactions dataset. |
alpha-hexylcinnamaldehyde Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-hexylcinnamaldehyde from the curated CTD Gene-Chemical Interactions dataset. |
4(G)-alpha-glucopyranosyl-rutin Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical 4(G)-alpha-glucopyranosyl-rutin from the curated CTD Gene-Chemical Interactions dataset. |
alpha-terpineol Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-terpineol from the curated CTD Gene-Chemical Interactions dataset. |
alpha-iso-cubebenol Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-iso-cubebenol from the curated CTD Gene-Chemical Interactions dataset. |
alpha-Tocopherol Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical alpha-Tocopherol from the curated CTD Gene-Chemical Interactions dataset. |
GH-RH(1-29), desaminotyrosyl(1)-ornithyl(12,21)-alpha-aminobutryic acid(15)-norleucyl(27)-aspartyl(28)-agmatine(29)- Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical GH-RH(1-29), desaminotyrosyl(1)-ornithyl(12,21)-alpha-aminobutryic acid(15)-norleucyl(27)-aspartyl(28)-agmatine(29)- from the curated CTD Gene-Chemical Interactions dataset. |
1 alpha-hydroxyergocalciferol Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical 1 alpha-hydroxyergocalciferol from the curated CTD Gene-Chemical Interactions dataset. |
alpha 1-Antitrypsin Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease alpha 1-Antitrypsin Deficiency from the curated CTD Gene-Disease Associations dataset. |
Interleukin 2 Receptor, Alpha, Deficiency of Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Interleukin 2 Receptor, Alpha, Deficiency of from the curated CTD Gene-Disease Associations dataset. |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type from the curated CTD Gene-Disease Associations dataset. |
Alpha-B Crystallinopathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alpha-B Crystallinopathy from the curated CTD Gene-Disease Associations dataset. |
Alpha-Thalassemia Myelodysplasia Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alpha-Thalassemia Myelodysplasia Syndrome from the curated CTD Gene-Disease Associations dataset. |
Alpha-ketoglutarate dehydrogenase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alpha-ketoglutarate dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset. |
alpha-Mannosidosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease alpha-Mannosidosis from the curated CTD Gene-Disease Associations dataset. |
alpha-Thalassemia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease alpha-Thalassemia from the curated CTD Gene-Disease Associations dataset. |
Tumor Necrosis Factor-alpha Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Tumor Necrosis Factor-alpha in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
alpha 1-antitrypsin deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease alpha 1-antitrypsin deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
alpha thalassemia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease alpha thalassemia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
alpha-mannosidosis Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease alpha-mannosidosis from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
alpha thalassemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease alpha thalassemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
immunoglobulin alpha deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease immunoglobulin alpha deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
interleukin-7 receptor alpha deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease interleukin-7 receptor alpha deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
alpha 1-antitrypsin deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease alpha 1-antitrypsin deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
alpha chain disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease alpha chain disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
alpha-mannosidosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease alpha-mannosidosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
4-Deoxy-Alpha-D-Glucose Gene Setinteracting proteins for the 4-Deoxy-Alpha-D-Glucose drug from the curated DrugBank Drug Targets dataset. |
Alpha-D-Glucopyranosyl-2-Carboxylic Acid Amide Gene Setinteracting proteins for the Alpha-D-Glucopyranosyl-2-Carboxylic Acid Amide drug from the curated DrugBank Drug Targets dataset. |
L-Alpha-Glycerophosphorylserine Gene Setinteracting proteins for the L-Alpha-Glycerophosphorylserine drug from the curated DrugBank Drug Targets dataset. |
4,6-Dideoxy-4-Amino-Alpha-D-Glucose Gene Setinteracting proteins for the 4,6-Dideoxy-4-Amino-Alpha-D-Glucose drug from the curated DrugBank Drug Targets dataset. |
Alpha-Linolenic Acid Gene Setinteracting proteins for the Alpha-Linolenic Acid drug from the curated DrugBank Drug Targets dataset. |
Mesobiliverdin Iv Alpha Gene Setinteracting proteins for the Mesobiliverdin Iv Alpha drug from the curated DrugBank Drug Targets dataset. |
Alpha-Difluoromethylornithine Gene Setinteracting proteins for the Alpha-Difluoromethylornithine drug from the curated DrugBank Drug Targets dataset. |
Methyl alpha-D-mannoside Gene Setinteracting proteins for the Methyl alpha-D-mannoside drug from the curated DrugBank Drug Targets dataset. |
Alpha-D-Fucose Gene Setinteracting proteins for the Alpha-D-Fucose drug from the curated DrugBank Drug Targets dataset. |
Alpha-D-Glucose-6-Phosphate Gene Setinteracting proteins for the Alpha-D-Glucose-6-Phosphate drug from the curated DrugBank Drug Targets dataset. |
alpha-D-Xylopyranose Gene Setinteracting proteins for the alpha-D-Xylopyranose drug from the curated DrugBank Drug Targets dataset. |
1,4-Dithio-Alpha-D-Mannose Gene Setinteracting proteins for the 1,4-Dithio-Alpha-D-Mannose drug from the curated DrugBank Drug Targets dataset. |
Alpha-Methyl-N-Acetyl-D-Glucosamine Gene Setinteracting proteins for the Alpha-Methyl-N-Acetyl-D-Glucosamine drug from the curated DrugBank Drug Targets dataset. |
2-(Acetylamino)-2-Deoxy-6-O-Methyl-Alpha-D-Allopyranose Gene Setinteracting proteins for the 2-(Acetylamino)-2-Deoxy-6-O-Methyl-Alpha-D-Allopyranose drug from the curated DrugBank Drug Targets dataset. |
Alpha-Phosphoribosylpyrophosphoric Acid Gene Setinteracting proteins for the Alpha-Phosphoribosylpyrophosphoric Acid drug from the curated DrugBank Drug Targets dataset. |
Alpha-ketoisovalerate Gene Setinteracting proteins for the Alpha-ketoisovalerate drug from the curated DrugBank Drug Targets dataset. |
Alpha-Benzyl-Aminobenzyl-Phosphonic Acid Gene Setinteracting proteins for the Alpha-Benzyl-Aminobenzyl-Phosphonic Acid drug from the curated DrugBank Drug Targets dataset. |
17-METHYL-17-ALPHA-DIHYDROEQUILENIN Gene Setinteracting proteins for the 17-METHYL-17-ALPHA-DIHYDROEQUILENIN drug from the curated DrugBank Drug Targets dataset. |
N-Alpha-(2-Naphthylsulfonyl)-N(3-Amidino-L-Phenylalaninyl)Isopipecolinic Acid Methyl Ester Gene Setinteracting proteins for the N-Alpha-(2-Naphthylsulfonyl)-N(3-Amidino-L-Phenylalaninyl)Isopipecolinic Acid Methyl Ester drug from the curated DrugBank Drug Targets dataset. |
Alpha-Fluoro-Carboxymethyldethia Coenzyme a Complex Gene Setinteracting proteins for the Alpha-Fluoro-Carboxymethyldethia Coenzyme a Complex drug from the curated DrugBank Drug Targets dataset. |
PROGESTERONE-11-ALPHA-OL-HEMISUCCINATE Gene Setinteracting proteins for the PROGESTERONE-11-ALPHA-OL-HEMISUCCINATE drug from the curated DrugBank Drug Targets dataset. |
1-alpha, 25-dihydroxyl-20-epi-22-oxa-24, 26 ,27-trihomovitamin D3 Gene Setinteracting proteins for the 1-alpha, 25-dihydroxyl-20-epi-22-oxa-24, 26 ,27-trihomovitamin D3 drug from the curated DrugBank Drug Targets dataset. |
Alpha-1-proteinase inhibitor Gene Setinteracting proteins for the Alpha-1-proteinase inhibitor drug from the curated DrugBank Drug Targets dataset. |
Alpha-Methylisocitric Acid Gene Setinteracting proteins for the Alpha-Methylisocitric Acid drug from the curated DrugBank Drug Targets dataset. |
Dodecyl-Alpha-D-Maltoside Gene Setinteracting proteins for the Dodecyl-Alpha-D-Maltoside drug from the curated DrugBank Drug Targets dataset. |
N-Alpha-(2-Naphthylsulfonyl)-N(3-Amidino-L-Phenylalaninyl)-4-Acetyl-Piperazine Gene Setinteracting proteins for the N-Alpha-(2-Naphthylsulfonyl)-N(3-Amidino-L-Phenylalaninyl)-4-Acetyl-Piperazine drug from the curated DrugBank Drug Targets dataset. |
ALPHA-HYDROXYFARNESYLPHOSPHONIC ACID Gene Setinteracting proteins for the ALPHA-HYDROXYFARNESYLPHOSPHONIC ACID drug from the curated DrugBank Drug Targets dataset. |
Alpha-L-1-Methyl-Fucose Gene Setinteracting proteins for the Alpha-L-1-Methyl-Fucose drug from the curated DrugBank Drug Targets dataset. |
C-(1-Azido-Alpha-D-Glucopyranosyl) Formamide Gene Setinteracting proteins for the C-(1-Azido-Alpha-D-Glucopyranosyl) Formamide drug from the curated DrugBank Drug Targets dataset. |
Alpha-L-Methyl-Fucose Gene Setinteracting proteins for the Alpha-L-Methyl-Fucose drug from the curated DrugBank Drug Targets dataset. |
Trans-O-Hydroxy-Alpha-Methyl Cinnamate Gene Setinteracting proteins for the Trans-O-Hydroxy-Alpha-Methyl Cinnamate drug from the curated DrugBank Drug Targets dataset. |
4-Methylthio-Alpha-D-Mannose Gene Setinteracting proteins for the 4-Methylthio-Alpha-D-Mannose drug from the curated DrugBank Drug Targets dataset. |
Alpha-Aminoisobutyric Acid Gene Setinteracting proteins for the Alpha-Aminoisobutyric Acid drug from the curated DrugBank Drug Targets dataset. |
Alpha-Aminobutyric Acid Gene Setinteracting proteins for the Alpha-Aminobutyric Acid drug from the curated DrugBank Drug Targets dataset. |
Alpha-Ketomalonic Acid Gene Setinteracting proteins for the Alpha-Ketomalonic Acid drug from the curated DrugBank Drug Targets dataset. |
L-Alpha-Glycerophospho-D-Myo-Inositol-4,5-Bis-Phosphate Gene Setinteracting proteins for the L-Alpha-Glycerophospho-D-Myo-Inositol-4,5-Bis-Phosphate drug from the curated DrugBank Drug Targets dataset. |
Biliverdine Ix Alpha Gene Setinteracting proteins for the Biliverdine Ix Alpha drug from the curated DrugBank Drug Targets dataset. |
N-Alpha-Acetyl-3,5-Diiodotyrosylglycine Gene Setinteracting proteins for the N-Alpha-Acetyl-3,5-Diiodotyrosylglycine drug from the curated DrugBank Drug Targets dataset. |
N-Alpha-(2-Naphthylsulfonyl)-N-(3-Amidino-L-Phenylalaninyl)-D-Pipecolinic Acid Gene Setinteracting proteins for the N-Alpha-(2-Naphthylsulfonyl)-N-(3-Amidino-L-Phenylalaninyl)-D-Pipecolinic Acid drug from the curated DrugBank Drug Targets dataset. |
Alpha-D-Glucose 1,6-Bisphosphate Gene Setinteracting proteins for the Alpha-D-Glucose 1,6-Bisphosphate drug from the curated DrugBank Drug Targets dataset. |
6-Deoxy-Alpha-D-Glucose Gene Setinteracting proteins for the 6-Deoxy-Alpha-D-Glucose drug from the curated DrugBank Drug Targets dataset. |
Alpha-D-Glucose-1-Phosphate-6-Vanadate Gene Setinteracting proteins for the Alpha-D-Glucose-1-Phosphate-6-Vanadate drug from the curated DrugBank Drug Targets dataset. |
Alpha-L-Fucose Gene Setinteracting proteins for the Alpha-L-Fucose drug from the curated DrugBank Drug Targets dataset. |
L-Alpha-Glycerophosphorylethanolamine Gene Setinteracting proteins for the L-Alpha-Glycerophosphorylethanolamine drug from the curated DrugBank Drug Targets dataset. |
Alpha-D-Glucose-1-Phosphate Gene Setinteracting proteins for the Alpha-D-Glucose-1-Phosphate drug from the curated DrugBank Drug Targets dataset. |
Natural alpha interferon Gene Setinteracting proteins for the Natural alpha interferon drug from the curated DrugBank Drug Targets dataset. |
Recombinant alpha 1-antitrypsin Gene Setinteracting proteins for the Recombinant alpha 1-antitrypsin drug from the curated DrugBank Drug Targets dataset. |
Alpha-D-Mannose-6-Phosphate Gene Setinteracting proteins for the Alpha-D-Mannose-6-Phosphate drug from the curated DrugBank Drug Targets dataset. |
2-Deoxy-2-Fluoro-Alpha-D-Mannosyl Fluoride Gene Setinteracting proteins for the 2-Deoxy-2-Fluoro-Alpha-D-Mannosyl Fluoride drug from the curated DrugBank Drug Targets dataset. |
Maltosyl-Alpha (1,4)-D-Gluconhydroximo-1,5-Lactam Gene Setinteracting proteins for the Maltosyl-Alpha (1,4)-D-Gluconhydroximo-1,5-Lactam drug from the curated DrugBank Drug Targets dataset. |
alpha 1-antitrypsin deficiency; lung neoplasms; neoplasm of lung ; pulmonary disease, chronic obstructive Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha 1-antitrypsin deficiency; lung neoplasms; neoplasm of lung ; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha 1-antitrypsin deficiency; bronchitis, chronic; chronic bronchitis ; pulmonary disease, chronic obstructive Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha 1-antitrypsin deficiency; bronchitis, chronic; chronic bronchitis ; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha 1-antitrypsin deficiency; wegener granulomatosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha 1-antitrypsin deficiency; wegener granulomatosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha-particle carcinogenesis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha-particle carcinogenesis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha 1-antitrypsin deficiency; aortic stenosis, supravalvular; dislocations; scoliosis; williams syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha 1-antitrypsin deficiency; aortic stenosis, supravalvular; dislocations; scoliosis; williams syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha 1-antitrypsin deficiency; fibrosis; iron overload Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha 1-antitrypsin deficiency; fibrosis; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
airway obstruction; alpha 1-antitrypsin deficiency; pulmonary disease, chronic obstructive Gene SetFrom GAD Gene-Disease Associations genes associated with the disease airway obstruction; alpha 1-antitrypsin deficiency; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha(1) antitrypsin deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha(1) antitrypsin deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha 1-antitrypsin deficiency; pulmonary disease, chronic obstructive; pulmonary emphysema Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha 1-antitrypsin deficiency; pulmonary disease, chronic obstructive; pulmonary emphysema in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha-thalassemia; malaria; seizures Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha-thalassemia; malaria; seizures in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha 1-antitrypsin deficiency; lung diseases, obstructive Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha 1-antitrypsin deficiency; lung diseases, obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha-2-macroglobulin concentration obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha-2-macroglobulin concentration obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha 1-antitrypsin deficiency; liver failure Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha 1-antitrypsin deficiency; liver failure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
tumor necrosis factor-alpha Gene SetFrom GAD Gene-Disease Associations genes associated with the disease tumor necrosis factor-alpha in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha-amylase Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha-amylase in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha 1-antitrypsin deficiency; pulmonary disease, chronic obstructive Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha 1-antitrypsin deficiency; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha 1-antitrypsin deficiency; liver diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha 1-antitrypsin deficiency; liver diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha-thalassemia; anemia; malaria Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha-thalassemia; anemia; malaria in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha 1-antitrypsin indicate a single origin for deficiency allele pi z Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha 1-antitrypsin indicate a single origin for deficiency allele pi z in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
sepsis; serum tumor necrosis factor-alpha levels Gene SetFrom GAD Gene-Disease Associations genes associated with the disease sepsis; serum tumor necrosis factor-alpha levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha-thalassemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha-thalassemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha 1-antitrypsin deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha 1-antitrypsin deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
tumor necrosis factor-alpha responses Gene SetFrom GAD Gene-Disease Associations genes associated with the disease tumor necrosis factor-alpha responses in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha 1-antitrypsin deficiency; liver diseases; pulmonary disease, chronic obstructive Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha 1-antitrypsin deficiency; liver diseases; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha 1-antitrypsin deficiency; cystic fibrosis; mycobacterium infections Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha 1-antitrypsin deficiency; cystic fibrosis; mycobacterium infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
serum alpha 1-antitrypsin deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease serum alpha 1-antitrypsin deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha 1-antitrypsin deficiency; emphysema Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha 1-antitrypsin deficiency; emphysema in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha-thalassemia; anemia, hypochromic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha-thalassemia; anemia, hypochromic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha 1-antitrypsin deficiency; occupational diseases; smoke inhalation injury Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha 1-antitrypsin deficiency; occupational diseases; smoke inhalation injury in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
thalassemia, alpha Gene SetFrom GAD Gene-Disease Associations genes associated with the disease thalassemia, alpha in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
thalasemia, alpha Gene SetFrom GAD Gene-Disease Associations genes associated with the disease thalasemia, alpha in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term alpha in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity biological process from the curated GO Biological Process Annotations 2015 dataset. |
platelet-derived growth factor receptor-alpha signaling pathway Gene SetFrom GO Biological Process Annotations 2015 genes participating in the platelet-derived growth factor receptor-alpha signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset. |
interleukin-1 alpha secretion Gene SetFrom GO Biological Process Annotations 2015 genes participating in the interleukin-1 alpha secretion biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of translational initiation by eif2 alpha phosphorylation Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of translational initiation by eif2 alpha phosphorylation biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of macrophage inflammatory protein 1 alpha production Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of macrophage inflammatory protein 1 alpha production biological process from the curated GO Biological Process Annotations 2015 dataset. |
alpha-tubulin acetylation Gene SetFrom GO Biological Process Annotations 2015 genes participating in the alpha-tubulin acetylation biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of interleukin-1 alpha secretion Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of interleukin-1 alpha secretion biological process from the curated GO Biological Process Annotations 2015 dataset. |
alpha-ketoglutarate transport Gene SetFrom GO Biological Process Annotations 2015 genes participating in the alpha-ketoglutarate transport biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of interleukin-1 alpha biosynthetic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of interleukin-1 alpha biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
alpha-amino acid catabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the alpha-amino acid catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
alpha-amino acid biosynthetic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the alpha-amino acid biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of interleukin-1 alpha production Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of interleukin-1 alpha production biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of interferon-alpha production Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of interferon-alpha production biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of eif2 alpha phosphorylation by heme Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of eif2 alpha phosphorylation by heme biological process from the curated GO Biological Process Annotations 2015 dataset. |
alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering Gene SetFrom GO Biological Process Annotations 2015 genes participating in the alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering biological process from the curated GO Biological Process Annotations 2015 dataset. |
alpha-amino acid metabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the alpha-amino acid metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of interferon-alpha production Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of interferon-alpha production biological process from the curated GO Biological Process Annotations 2015 dataset. |
macrophage inflammatory protein-1 alpha production Gene SetFrom GO Biological Process Annotations 2015 genes participating in the macrophage inflammatory protein-1 alpha production biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of interferon-alpha biosynthetic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of interferon-alpha biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of platelet-derived growth factor receptor-alpha signaling pathway Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of platelet-derived growth factor receptor-alpha signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset. |
response to interferon-alpha Gene SetFrom GO Biological Process Annotations 2015 genes participating in the response to interferon-alpha biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation by host of viral exo-alpha-sialidase activity Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation by host of viral exo-alpha-sialidase activity biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of macrophage inflammatory protein 1 alpha production Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of macrophage inflammatory protein 1 alpha production biological process from the curated GO Biological Process Annotations 2015 dataset. |
protein c-linked glycosylation via 2'-alpha-mannosyl-l-tryptophan Gene SetFrom GO Biological Process Annotations 2015 genes participating in the protein c-linked glycosylation via 2'-alpha-mannosyl-l-tryptophan biological process from the curated GO Biological Process Annotations 2015 dataset. |
fatty acid alpha-oxidation Gene SetFrom GO Biological Process Annotations 2015 genes participating in the fatty acid alpha-oxidation biological process from the curated GO Biological Process Annotations 2015 dataset. |
alpha-linolenic acid metabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the alpha-linolenic acid metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of platelet-derived growth factor receptor-alpha signaling pathway Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of platelet-derived growth factor receptor-alpha signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset. |
interferon-alpha production Gene SetFrom GO Biological Process Annotations 2015 genes participating in the interferon-alpha production biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of eif2 alpha phosphorylation by dsrna Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of eif2 alpha phosphorylation by dsrna biological process from the curated GO Biological Process Annotations 2015 dataset. |
platelet alpha granule organization Gene SetFrom GO Biological Process Annotations 2015 genes participating in the platelet alpha granule organization biological process from the curated GO Biological Process Annotations 2015 dataset. |
modulation by host of viral exo-alpha-sialidase activity Gene SetFrom GO Biological Process Annotations 2015 genes participating in the modulation by host of viral exo-alpha-sialidase activity biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of interferon-alpha biosynthetic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of interferon-alpha biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of exo-alpha-sialidase activity Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of exo-alpha-sialidase activity biological process from the curated GO Biological Process Annotations 2015 dataset. |
l-alpha-amino acid transmembrane transport Gene SetFrom GO Biological Process Annotations 2015 genes participating in the l-alpha-amino acid transmembrane transport biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of exo-alpha-sialidase activity Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of exo-alpha-sialidase activity biological process from the curated GO Biological Process Annotations 2015 dataset. |
cellular response to interferon-alpha Gene SetFrom GO Biological Process Annotations 2015 genes participating in the cellular response to interferon-alpha biological process from the curated GO Biological Process Annotations 2015 dataset. |
mitochondrial alpha-ketoglutarate dehydrogenase complex Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the mitochondrial alpha-ketoglutarate dehydrogenase complex cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
alpha dna polymerase:primase complex Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the alpha dna polymerase:primase complex cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
proteasome core complex, alpha-subunit complex Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the proteasome core complex, alpha-subunit complex cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
platelet alpha granule lumen Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the platelet alpha granule lumen cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
platelet alpha granule membrane Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the platelet alpha granule membrane cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
platelet alpha granule Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the platelet alpha granule cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
glycoprotein-fucosylgalactoside alpha-n-acetylgalactosaminyltransferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the glycoprotein-fucosylgalactoside alpha-n-acetylgalactosaminyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
cholesterol 7-alpha-monooxygenase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the cholesterol 7-alpha-monooxygenase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
alpha-1,3-glucosidase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the alpha-1,3-glucosidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
fatty acid alpha-hydroxylase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the fatty acid alpha-hydroxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
glycolipid 6-alpha-mannosyltransferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the glycolipid 6-alpha-mannosyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
alpha-catenin binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the alpha-catenin binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
raffinose alpha-galactosidase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the raffinose alpha-galactosidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
3-galactosyl-n-acetylglucosaminide 4-alpha-l-fucosyltransferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the 3-galactosyl-n-acetylglucosaminide 4-alpha-l-fucosyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
alpha-2b adrenergic receptor binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the alpha-2b adrenergic receptor binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
exo-alpha-(2->8)-sialidase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the exo-alpha-(2->8)-sialidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
platelet-derived growth factor alpha-receptor activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the platelet-derived growth factor alpha-receptor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
exo-alpha-sialidase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the exo-alpha-sialidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
muscle alpha-actinin binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the muscle alpha-actinin binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
alpha-n-acetylgalactosaminidase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the alpha-n-acetylgalactosaminidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
n-acetylglucosamine-1-phosphodiester alpha-n-acetylglucosaminidase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the n-acetylglucosamine-1-phosphodiester alpha-n-acetylglucosaminidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
17-alpha-hydroxyprogesterone aldolase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the 17-alpha-hydroxyprogesterone aldolase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
alpha-tubulin binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the alpha-tubulin binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
alpha-1,6-mannosyltransferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the alpha-1,6-mannosyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
exo-alpha-(2->6)-sialidase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the exo-alpha-(2->6)-sialidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
heparan-alpha-glucosaminide n-acetyltransferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the heparan-alpha-glucosaminide n-acetyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
cholestenone 5-alpha-reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the cholestenone 5-alpha-reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
oxysterol 7-alpha-hydroxylase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the oxysterol 7-alpha-hydroxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
gdp-man:man1glcnac2-pp-dol alpha-1,3-mannosyltransferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the gdp-man:man1glcnac2-pp-dol alpha-1,3-mannosyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
sterol 12-alpha-hydroxylase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the sterol 12-alpha-hydroxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
alpha-amylase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the alpha-amylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
dol-p-man:man(6)glcnac(2)-pp-dol alpha-1,2-mannosyltransferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the dol-p-man:man(6)glcnac(2)-pp-dol alpha-1,2-mannosyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
exo-alpha-(2->3)-sialidase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the exo-alpha-(2->3)-sialidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
alpha-actinin binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the alpha-actinin binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
alpha-1a adrenergic receptor binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the alpha-1a adrenergic receptor binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
alpha-1,3-galactosyltransferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the alpha-1,3-galactosyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
glucuronyl-galactosyl-proteoglycan 4-alpha-n-acetylglucosaminyltransferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the glucuronyl-galactosyl-proteoglycan 4-alpha-n-acetylglucosaminyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
fucosylgalactoside 3-alpha-galactosyltransferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the fucosylgalactoside 3-alpha-galactosyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
alpha-methylacyl-coa racemase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the alpha-methylacyl-coa racemase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
alpha-galactosidase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the alpha-galactosidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
globoside alpha-n-acetylgalactosaminyltransferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the globoside alpha-n-acetylgalactosaminyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
dol-p-man:man(5)glcnac(2)-pp-dol alpha-1,3-mannosyltransferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the dol-p-man:man(5)glcnac(2)-pp-dol alpha-1,3-mannosyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
glucuronosyl-n-acetylglucosaminyl-proteoglycan 4-alpha-n-acetylglucosaminyltransferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the glucuronosyl-n-acetylglucosaminyl-proteoglycan 4-alpha-n-acetylglucosaminyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
alpha-l-fucosidase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the alpha-l-fucosidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
dol-p-man:man(8)glcnac(2)-pp-dol alpha-1,2-mannosyltransferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the dol-p-man:man(8)glcnac(2)-pp-dol alpha-1,2-mannosyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
importin-alpha export receptor activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the importin-alpha export receptor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
alpha-1,3-mannosyltransferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the alpha-1,3-mannosyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
peptide alpha-n-acetyltransferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the peptide alpha-n-acetyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
glucan 1,4-alpha-glucosidase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the glucan 1,4-alpha-glucosidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
glucan 1,3-alpha-glucosidase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the glucan 1,3-alpha-glucosidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
neolactotetraosylceramide alpha-2,3-sialyltransferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the neolactotetraosylceramide alpha-2,3-sialyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
alpha-tocopherol omega-hydroxylase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the alpha-tocopherol omega-hydroxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
alpha-1,4-n-acetylgalactosaminyltransferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the alpha-1,4-n-acetylgalactosaminyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
gdp-man:man3glcnac2-pp-dol alpha-1,2-mannosyltransferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the gdp-man:man3glcnac2-pp-dol alpha-1,2-mannosyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
4-alpha-hydroxytetrahydrobiopterin dehydratase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the 4-alpha-hydroxytetrahydrobiopterin dehydratase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
alpha-2c adrenergic receptor binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the alpha-2c adrenergic receptor binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
alpha-sialidase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the alpha-sialidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
alpha-1,2-mannosyltransferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the alpha-1,2-mannosyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
alpha-1,4-glucosidase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the alpha-1,4-glucosidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
alpha-adrenergic receptor activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the alpha-adrenergic receptor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
mannosyl-oligosaccharide 1,2-alpha-mannosidase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the mannosyl-oligosaccharide 1,2-alpha-mannosidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
steroid 17-alpha-monooxygenase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the steroid 17-alpha-monooxygenase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
n-acetyllactosaminide alpha-2,3-sialyltransferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the n-acetyllactosaminide alpha-2,3-sialyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
3-oxo-5-alpha-steroid 4-dehydrogenase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the 3-oxo-5-alpha-steroid 4-dehydrogenase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
sucrose alpha-glucosidase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the sucrose alpha-glucosidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
alpha-ketoacid dehydrogenase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the alpha-ketoacid dehydrogenase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
alpha-n-acetylglucosaminidase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the alpha-n-acetylglucosaminidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
dol-p-man:man(7)glcnac(2)-pp-dol alpha-1,6-mannosyltransferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the dol-p-man:man(7)glcnac(2)-pp-dol alpha-1,6-mannosyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
alpha-(1->3)-fucosyltransferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the alpha-(1->3)-fucosyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
alpha-2a adrenergic receptor binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the alpha-2a adrenergic receptor binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
alpha-l-arabinofuranosidase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the alpha-l-arabinofuranosidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
g-protein alpha-subunit binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the g-protein alpha-subunit binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
glycoprotein endo-alpha-1,2-mannosidase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the glycoprotein endo-alpha-1,2-mannosidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
1-alpha,25-dihydroxyvitamin d3 24-hydroxylase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the 1-alpha,25-dihydroxyvitamin d3 24-hydroxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
amylo-alpha-1,6-glucosidase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the amylo-alpha-1,6-glucosidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
sterol 5-alpha reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the sterol 5-alpha reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
alpha-glucosidase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the alpha-glucosidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
steroid 7-alpha-hydroxylase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the steroid 7-alpha-hydroxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
4-alpha-glucanotransferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the 4-alpha-glucanotransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
alpha-(1->6)-fucosyltransferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the alpha-(1->6)-fucosyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
maltose alpha-glucosidase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the maltose alpha-glucosidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
interleukin-12 alpha subunit binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the interleukin-12 alpha subunit binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
1,4-alpha-glucan branching enzyme activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the 1,4-alpha-glucan branching enzyme activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
alpha-mannosidase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the alpha-mannosidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
glycoprotein 6-alpha-l-fucosyltransferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the glycoprotein 6-alpha-l-fucosyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
alpha-1b adrenergic receptor binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the alpha-1b adrenergic receptor binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
galactoside 2-alpha-l-fucosyltransferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the galactoside 2-alpha-l-fucosyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
lactosylceramide alpha-2,3-sialyltransferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the lactosylceramide alpha-2,3-sialyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
alpha-(1,2)-fucosyltransferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the alpha-(1,2)-fucosyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
lactosylceramide 4-alpha-galactosyltransferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the lactosylceramide 4-alpha-galactosyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
dolichyl pyrophosphate man9glcnac2 alpha-1,3-glucosyltransferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the dolichyl pyrophosphate man9glcnac2 alpha-1,3-glucosyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
hemoglobin alpha binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the hemoglobin alpha binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
cholate 7-alpha-dehydrogenase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the cholate 7-alpha-dehydrogenase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
N-α-Ac-PYY-(22-36) (rat) Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the N-α-Ac-PYY-(22-36) (rat) ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
α-ergocryptine Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the α-ergocryptine ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
[125I]α-DTX Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the [125I]α-DTX ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
N-α-methylhistamine Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the N-α-methylhistamine ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
α-conotoxin MII Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the α-conotoxin MII ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
7α-NHEt-ginkgolide B Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the 7α-NHEt-ginkgolide B ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
[3H]PGF2α Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the [3H]PGF2α ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
4α-PDD Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the 4α-PDD ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
4α-PDH Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the 4α-PDH ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
α-conotoxin PnIA Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the α-conotoxin PnIA ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
neuropeptide-α Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the neuropeptide-α ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
(R)-α-methylhistamine Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the (R)-α-methylhistamine ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
(S)-α-methylhistamine Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the (S)-α-methylhistamine ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
α5IA Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the α5IA ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
α-conotoxin AuIB Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the α-conotoxin AuIB ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
7α-NHMe-ginkgolide B Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the 7α-NHMe-ginkgolide B ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
10-OBn-7α-F-gingkolide B Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the 10-OBn-7α-F-gingkolide B ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
α-conotoxin MI Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the α-conotoxin MI ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
[125I]α-bungarotoxin Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the [125I]α-bungarotoxin ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
7α 27-dihydroxycholesterol Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the 7α 27-dihydroxycholesterol ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
13 14-dihydro-16-m-chlorophenoxy-w-tetranor-PGF1α Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the 13 14-dihydro-16-m-chlorophenoxy-w-tetranor-PGF1α ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
7α-NH2-ginkgolide B Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the 7α-NH2-ginkgolide B ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
α-scorpion toxin Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the α-scorpion toxin ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
α-conotoxin TxIA Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the α-conotoxin TxIA ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
α-helical CRF Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the α-helical CRF ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
7α-F-ginkgolide B Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the 7α-F-ginkgolide B ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
α-conotoxin RgIA Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the α-conotoxin RgIA ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
pregnenolone-16α-carbonitrile Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the pregnenolone-16α-carbonitrile ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
α-methylnoradrenaline Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the α-methylnoradrenaline ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
α-conotoxin PIA Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the α-conotoxin PIA ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
α-methyl-5-HT Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the α-methyl-5-HT ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
α-dendrotoxin Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the α-dendrotoxin ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
N-[3H]α-methylhistamine Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the N-[3H]α-methylhistamine ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
7α-Cl-ginkgolide B Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the 7α-Cl-ginkgolide B ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
7α-OCOCH2Ph-ginkgolide B Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the 7α-OCOCH2Ph-ginkgolide B ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
α3IA Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the α3IA ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
N-α-Ac-PYY-(25-36) (rat) Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the N-α-Ac-PYY-(25-36) (rat) ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
7α-hydroxycholesterol Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the 7α-hydroxycholesterol ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
dATPαS Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the dATPαS ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
PSMα3 Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the PSMα3 ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
α-conotoxin-GIC Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the α-conotoxin-GIC ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
α-conotoxin GI Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the α-conotoxin GI ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
α-latrotoxin Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the α-latrotoxin ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
13 14-dihydro-15-keto-PGF2α Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the 13 14-dihydro-15-keto-PGF2α ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
α-methyl-D L-tryptophan Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the α-methyl-D L-tryptophan ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
PGF1α Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the PGF1α ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
7α-N3-ginkgolide B Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the 7α-N3-ginkgolide B ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
α-bungarotoxin Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the α-bungarotoxin ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
[3H](R)-α-methylhistamine Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the [3H](R)-α-methylhistamine ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
alpha-methyltyrosine Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the alpha-methyltyrosine ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
α-methylphenylalanine Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the α-methylphenylalanine ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
7α-OAc-ginkgolide B Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the 7α-OAc-ginkgolide B ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
[3H]α-bungarotoxin Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the [3H]α-bungarotoxin ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
α-conotoxin ImI Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the α-conotoxin ImI ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
α-propyldopacetamide Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the α-propyldopacetamide ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
α-conotoxin ArIB Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the α-conotoxin ArIB ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
[125I]α-conotoxin MII Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the [125I]α-conotoxin MII ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
α-linolenic acid Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the α-linolenic acid ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
α-ketoglutaric acid Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the α-ketoglutaric acid ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
7α 25-dihydroxycholesterol Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the 7α 25-dihydroxycholesterol ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
α-fluoromethylenephosphonate Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the α-fluoromethylenephosphonate ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
[125I]SDF-1α (human) Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the [125I]SDF-1α (human) ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
PGF2α Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the PGF2α ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
α-conotoxin MII [H9A L15A] Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the α-conotoxin MII [H9A L15A] ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
pandinotoxin-K α Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the pandinotoxin-K α ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
α-KTx 13.2 Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the α-KTx 13.2 ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
Immune reponse to smallpox (secreted IFN-alpha) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Immune reponse to smallpox (secreted IFN-alpha) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Immune reponse to smallpox (secreted TNF-alpha) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Immune reponse to smallpox (secreted TNF-alpha) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Response to anti-TNF alpha therapy in inflammatory bowel disease Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Response to anti-TNF alpha therapy in inflammatory bowel disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Response to TNF-alpha inhibitors in rheumatoid arthritis Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Response to TNF-alpha inhibitors in rheumatoid arthritis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
immunoglobulin alpha deficiency Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease immunoglobulin alpha deficiency in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
3-alpha-Androstanediol glucuronide Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the 3-alpha-Androstanediol glucuronide metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Alpha-ketoisovaleric acid Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Alpha-ketoisovaleric acid metabolite from the curated HMDB Metabolites of Enzymes dataset. |
N-acetyl-alpha-D-galactosamine 1-phosphate Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the N-acetyl-alpha-D-galactosamine 1-phosphate metabolite from the curated HMDB Metabolites of Enzymes dataset. |
6-(alpha-D-Glucosaminyl)-1D-myo-inositol Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the 6-(alpha-D-Glucosaminyl)-1D-myo-inositol metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Alpha-Lactose Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Alpha-Lactose metabolite from the curated HMDB Metabolites of Enzymes dataset. |
7 alpha,24-Dihydroxy-4-cholesten-3-one Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the 7 alpha,24-Dihydroxy-4-cholesten-3-one metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Alpha-Linolenoyl-CoA Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Alpha-Linolenoyl-CoA metabolite from the curated HMDB Metabolites of Enzymes dataset. |
7 alpha,26-Dihydroxy-4-cholesten-3-one Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the 7 alpha,26-Dihydroxy-4-cholesten-3-one metabolite from the curated HMDB Metabolites of Enzymes dataset. |
heparan sulfate alpha-D-glucosaminide Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the heparan sulfate alpha-D-glucosaminide metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Alpha-Linolenic acid Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Alpha-Linolenic acid metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Alpha-L-fucose Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Alpha-L-fucose metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Alpha-Muricholic acid Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Alpha-Muricholic acid metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Alpha-Tocopherol Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Alpha-Tocopherol metabolite from the curated HMDB Metabolites of Enzymes dataset. |
5-alpha-Dihydrotestosterone glucuronide Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the 5-alpha-Dihydrotestosterone glucuronide metabolite from the curated HMDB Metabolites of Enzymes dataset. |
L-Alpha-aminobutyric acid Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the L-Alpha-aminobutyric acid metabolite from the curated HMDB Metabolites of Enzymes dataset. |
UDP-N-acetyl-alpha-D-galactosamine Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the UDP-N-acetyl-alpha-D-galactosamine metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Alpha-D-Glucose 1,6-bisphosphate Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Alpha-D-Glucose 1,6-bisphosphate metabolite from the curated HMDB Metabolites of Enzymes dataset. |
17-alpha-Estradiol-3-glucuronide Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the 17-alpha-Estradiol-3-glucuronide metabolite from the curated HMDB Metabolites of Enzymes dataset. |
N1-(alpha-D-ribosyl)-5,6-dimethyl-benzimidazole Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the N1-(alpha-D-ribosyl)-5,6-dimethyl-benzimidazole metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Alpha-hydroxyalprazolam Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Alpha-hydroxyalprazolam metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Alpha-D-Glucose Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Alpha-D-Glucose metabolite from the curated HMDB Metabolites of Enzymes dataset. |
7 alpha-Hydroxy-3-oxo-4-cholestenoate Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the 7 alpha-Hydroxy-3-oxo-4-cholestenoate metabolite from the curated HMDB Metabolites of Enzymes dataset. |
6-(N-Acetyl-alpha-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the 6-(N-Acetyl-alpha-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol metabolite from the curated HMDB Metabolites of Enzymes dataset. |
elevated amniotic fluid alpha-fetoprotein Gene SetFrom HPO Gene-Disease Associations genes associated with the elevated amniotic fluid alpha-fetoprotein phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
elevated alpha-fetoprotein Gene SetFrom HPO Gene-Disease Associations genes associated with the elevated alpha-fetoprotein phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
high maternal serum alpha-fetoprotein Gene SetFrom HPO Gene-Disease Associations genes associated with the high maternal serum alpha-fetoprotein phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
elevated maternal serum alpha-fetoprotein Gene SetFrom HPO Gene-Disease Associations genes associated with the elevated maternal serum alpha-fetoprotein phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
increased csf interferon alpha Gene SetFrom HPO Gene-Disease Associations genes associated with the increased csf interferon alpha phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
alpha 1-Antitrypsin Deficiency Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the alpha 1-Antitrypsin Deficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
alpha-Thalassemia Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the alpha-Thalassemia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
α-tocopherol degradation Gene SetFrom HumanCyc Pathways proteins participating in the α-tocopherol degradation pathway from the HumanCyc Pathways dataset. |
S-methyl-5-thio-α-D-ribose 1-phosphate degradation Gene SetFrom HumanCyc Pathways proteins participating in the S-methyl-5-thio-α-D-ribose 1-phosphate degradation pathway from the HumanCyc Pathways dataset. |
2'-deoxy-α-D-ribose 1-phosphate degradation Gene SetFrom HumanCyc Pathways proteins participating in the 2'-deoxy-α-D-ribose 1-phosphate degradation pathway from the HumanCyc Pathways dataset. |
fatty acid α-oxidation III Gene SetFrom HumanCyc Pathways proteins participating in the fatty acid α-oxidation III pathway from the HumanCyc Pathways dataset. |
fatty acid α-oxidation Gene SetFrom HumanCyc Pathways proteins participating in the fatty acid α-oxidation pathway from the HumanCyc Pathways dataset. |
FMN-dependent alpha-hydroxy acid dehydrogenase, active site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the FMN-dependent alpha-hydroxy acid dehydrogenase, active site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Alpha-actinin-4 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Alpha-actinin-4 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Hepatocyte nuclear factor 1, alpha isoform C-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Hepatocyte nuclear factor 1, alpha isoform C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Alpha-D-phosphohexomutase, C-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Alpha-D-phosphohexomutase, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Alpha-internexin Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Alpha-internexin protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Glycine receptor alpha Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glycine receptor alpha protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
CD8 alpha subunit Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the CD8 alpha subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Voltage gated sodium channel, alpha-8 subunit Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage gated sodium channel, alpha-8 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Voltage-dependent calcium channel, T-type, alpha-1 subunit Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage-dependent calcium channel, T-type, alpha-1 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Alpha-macroglobulin, receptor-binding Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Alpha-macroglobulin, receptor-binding protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Alpha-D-phosphohexomutase superfamily Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Alpha-D-phosphohexomutase superfamily protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
G protein alpha subunit, helical insertion Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the G protein alpha subunit, helical insertion protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Pyruvate dehydrogenase (acetyl-transferring) E1 component, alpha subunit, subgroup y Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Pyruvate dehydrogenase (acetyl-transferring) E1 component, alpha subunit, subgroup y protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Alpha helical coiled-coil rod Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Alpha helical coiled-coil rod protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Inhibin, alpha subunit subgroup Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Inhibin, alpha subunit subgroup protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Alpha N-catenin Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Alpha N-catenin protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
3-oxo-5-alpha-steroid 4-dehydrogenase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the 3-oxo-5-alpha-steroid 4-dehydrogenase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Alpha-helical ferredoxin Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Alpha-helical ferredoxin protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Peroxisome proliferator-activated receptor, alpha Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Peroxisome proliferator-activated receptor, alpha protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Transcription factor TFIIE alpha subunit, C-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Transcription factor TFIIE alpha subunit, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ATPase, F1 complex, alpha subunit Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, F1 complex, alpha subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Voltage-dependent calcium channel, L-type, alpha-1C subunit Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage-dependent calcium channel, L-type, alpha-1C subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Guanine nucleotide binding protein (G-protein), alpha subunit Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Guanine nucleotide binding protein (G-protein), alpha subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Alpha crystallin/Hsp20 domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Alpha crystallin/Hsp20 domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
DNA topoisomerase I, catalytic core, alpha-helical subdomain, eukaryotic-type Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA topoisomerase I, catalytic core, alpha-helical subdomain, eukaryotic-type protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Peptidyl-glycine alpha-amidating monooxygenase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Peptidyl-glycine alpha-amidating monooxygenase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
HIF-1 alpha, transactivation domain, C-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the HIF-1 alpha, transactivation domain, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Interleukin-2 receptor alpha Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Interleukin-2 receptor alpha protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Phenylalanyl-tRNA synthetase, class IIc, alpha subunit Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Phenylalanyl-tRNA synthetase, class IIc, alpha subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Long hematopoietin receptor, soluble alpha chain, conserved site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Long hematopoietin receptor, soluble alpha chain, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Alpha-1,3/1,6-mannosyltransferase ALG2 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Alpha-1,3/1,6-mannosyltransferase ALG2 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Integrin alpha-2 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Integrin alpha-2 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Collagen alpha-1(XVIII) chain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Collagen alpha-1(XVIII) chain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Serine/threonine-protein kinase MRCK alpha Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Serine/threonine-protein kinase MRCK alpha protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Adaptor protein complex AP-2, alpha subunit Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Adaptor protein complex AP-2, alpha subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Alpha-2-macroglobulin receptor-associated protein, domain 1 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Alpha-2-macroglobulin receptor-associated protein, domain 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Voltage gated sodium channel, alpha-5 subunit Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage gated sodium channel, alpha-5 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Electron transfer flavoprotein, alpha subunit, C-terminal, conserved site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Electron transfer flavoprotein, alpha subunit, C-terminal, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Lamina-associated polypeptide 2 alpha Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Lamina-associated polypeptide 2 alpha protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Alpha-(1,6)-fucosyltransferase, eukaryotic type Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Alpha-(1,6)-fucosyltransferase, eukaryotic type protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Gamma-aminobutyric-acid A receptor, alpha 1 subunit Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Gamma-aminobutyric-acid A receptor, alpha 1 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
DNA fragmentation factor subunit alpha Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA fragmentation factor subunit alpha protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
LPS-induced tumour necrosis factor alpha factor Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the LPS-induced tumour necrosis factor alpha factor protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Hypoxia-inducible factor 1-alpha inhibitor, domain II Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Hypoxia-inducible factor 1-alpha inhibitor, domain II protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Voltage-dependent calcium channel, T-type, alpha-1I subunit Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage-dependent calcium channel, T-type, alpha-1I subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Alpha-1-syntrophin Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Alpha-1-syntrophin protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Alpha-2-macroglobulin Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Alpha-2-macroglobulin protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Alpha-crystallin, N-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Alpha-crystallin, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Serum albumin/Alpha-fetoprotein/Afamin Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Serum albumin/Alpha-fetoprotein/Afamin protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Receptor tyrosine-protein phosphatase, alpha/epsilon-type Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Receptor tyrosine-protein phosphatase, alpha/epsilon-type protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Voltage gated sodium channel, alpha-7 subunit Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage gated sodium channel, alpha-7 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
G-protein alpha subunit, group I Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the G-protein alpha subunit, group I protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Alpha tubulin Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Alpha tubulin protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
G-protein alpha subunit, group S Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the G-protein alpha subunit, group S protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
G-protein alpha subunit, group Q Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the G-protein alpha subunit, group Q protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Alpha-ketoglutarate-dependent dioxygenase AlkB-like Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Alpha-ketoglutarate-dependent dioxygenase AlkB-like protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Translation initiation factor 2, alpha subunit Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Translation initiation factor 2, alpha subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Voltage-dependent calcium channel, N-type, alpha-1 subunit Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage-dependent calcium channel, N-type, alpha-1 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Potassium-transporting ATPase alpha chain 2 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Potassium-transporting ATPase alpha chain 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Alpha amylase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Alpha amylase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Sec7 domain, alpha orthogonal bundle Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Sec7 domain, alpha orthogonal bundle protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Voltage-dependent calcium channel, R-type, alpha-1 subunit Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage-dependent calcium channel, R-type, alpha-1 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Alpha-2-macroglobulin RAP, C-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Alpha-2-macroglobulin RAP, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the 3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Alpha 1A adrenoceptor Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Alpha 1A adrenoceptor protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Alpha-N-acetylglucosaminidase, C-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Alpha-N-acetylglucosaminidase, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Cytochrome P450, cholesterol 7-alpha-monooxygenase-type Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Cytochrome P450, cholesterol 7-alpha-monooxygenase-type protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Alpha-2-macroglobulin, N-terminal 2 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Alpha-2-macroglobulin, N-terminal 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
STAT transcription factor, all-alpha Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the STAT transcription factor, all-alpha protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
1,4-alpha-glucan-branching enzyme, GlgB Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the 1,4-alpha-glucan-branching enzyme, GlgB protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Platelet-derived growth factor receptor alpha Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Platelet-derived growth factor receptor alpha protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Alpha-2-macroglobulin, thiol-ester bond-forming Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Alpha-2-macroglobulin, thiol-ester bond-forming protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Integrin alpha chain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Integrin alpha chain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
NatC N(alpha)-terminal acetyltransferase, Mak10 subunit Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the NatC N(alpha)-terminal acetyltransferase, Mak10 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Alpha-ketoglutarate-dependent dioxygenase FTO, C-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Alpha-ketoglutarate-dependent dioxygenase FTO, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Prolyl 4-hydroxylase alpha-subunit, N-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Prolyl 4-hydroxylase alpha-subunit, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Alpha-N-acetylglucosaminidase, tim-barrel domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Alpha-N-acetylglucosaminidase, tim-barrel domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Citrate synthase-like, large alpha subdomain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Citrate synthase-like, large alpha subdomain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Alpha-N-acetylglucosaminidase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Alpha-N-acetylglucosaminidase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Tissue alpha-L-fucosidase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Tissue alpha-L-fucosidase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Interleukin-1 alpha Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Interleukin-1 alpha protein domain from the InterPro Predicted Protein Domain Annotations dataset. |