Harmonizome 3.0

From Achilles

Fitness scores for cell lines following single gene knockdowns

From BioGPS

mRNA expression prtrong>oftrong>iles for the NCI-60 panel trong>oftrong> cancer cell lines

From BioGPS

mRNA expression prtrong>oftrong>iles for human tissues and cell types

From BioGPS

mRNA expression prtrong>oftrong>iles for mouse tissues and cell types

From Cancer Cell Line Encyclopedia

Gene-level copy number variation prtrong>oftrong>iles for cancer cell lines

From Cancer Cell Line Encyclopedia

mRNA microarray expression prtrong>oftrong>iles for cancer cell lines

From Cancer Cell Line Encyclopedia

Gene-level mutation prtrong>oftrong>iles for cancer cell lines

From Catalogue trong>oftrong> Somatic Mutations In Cancer

Gene-level copy number variation prtrong>oftrong>iles for cancer cell lines

From Catalogue trong>oftrong> Somatic Mutations In Cancer

Gene mutations in cancer cell lines from low-throughput or high-throughput studies

From Genomics trong>oftrong> Drug Sensitivity in Cancer

mRNA microarray expression prtrong>oftrong>iles for cancer cell lines

From Heiser et al., PNAS, 2011

mRNA expression prtrong>oftrong>iles for breast cancer cell lines measured by microarray

From Human Protein Atlas

RNA-seq gene expression prtrong>oftrong>iles for cell lines from HPA

From Human Proteome Map

Protein expression prtrong>oftrong>iles for tissues and cell types

From Klijn et al., Nat. Biotechnol., 2015

Gene-level copy number variation prtrong>oftrong>iles for cancer cell lines

From Klijn et al., Nat. Biotechnol., 2015

RNA-seq gene expression prtrong>oftrong>iles for cancer cell lines

From Klijn et al., Nat. Biotechnol., 2015

SNP gene mutations in cancer cell lines identified by microarray

From Proteomics Database

Protein expression prtrong>oftrong>iles for tissues and cell types reprocessed from many proteomics datasets

From Roadmap Epigenomics

DNA methylation prtrong>oftrong>iles for primary cell types and tissues

From Roadmap Epigenomics

mRNA expression prtrong>oftrong>iles for primary cell types and tissues

From Sanger Cancer Dependency Map

Protein intensity values acquired using data-independent acquisition mass spectrometry (DIA-MS).

From Tabula Sapiens

Gene expression data from Tabula Sapiens scRNA-seq counts

From Cancer Cell Line Encyclopedia

Protein intensity values acquired using mass spectrometry across human cancerous cell lines

From The Human BioMolecular Atlas Program

Gene-cell type annotations from integrated reference scRNA-seq gene expression prtrong>oftrong>iles

From CellMarker

Cell type markers across various tissues from human and mouse scRNA-seq

From Replogle et al., Cell, 2022

Gene expression prtrong>oftrong>iles in the K562 cell line following CRISPRi genetic perturbation

From Replogle et al., Cell, 2022

Gene expression prtrong>oftrong>iles in the K562 cell line following CRISPRi genetic perturbation trong>oftrong> essential genes

From Replogle et al., Cell, 2022

Gene expression prtrong>oftrong>iles in the RPE1 cell line following CRISPRi genetic perturbation trong>oftrong> essential genes

From Cell Maps for AI

Protein localization assemblies constructed from integrating AP-MS biomolecular interaction and IF imaging data

From Cell Maps for AI

Gene expression prtrong>oftrong>iles in the KOLF2.1J cell line following CRISPRi genetic perturbation

growth trong>regulationtrong> by estrogen in breast cancer-like

Acts upstream trong>oftrong> or within kidney development. Predicted to be located in membrane. Implicated in autosomal dominant nonsyndromic deafness 80 and renal agenesis. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

trong>regulationtrong> trong>oftrong> nuclear pre-mRNA domain containing 1A

This gene encodes a cell-cycle and transcription regulatory protein. The encoded protein interacts with the cell cycle inhibitor cyclin-dependent kinase 4 inhibitor B and may function as a negative regulator trong>oftrong> G(1)/S phase progression. This protein also forms homo- and hetrodimers with the protein, trong>regulationtrong> trong>oftrong> nuclear pre-mRNA domain-containing protein 1B, to form a scaffold that interacts with the C-terminal domain trong>oftrong> RNA polymerase II subunit B1 and regulates several aspects trong>oftrong> transcription. Alternate splicing results in multiple transcript variants. A pseudogene trong>oftrong> this gene is found on chromosome 16. [provided by RefSeq, Dec 2014]

trong>regulationtrong> trong>oftrong> nuclear pre-mRNA domain containing 1B

Enables RNA polymerase II complex binding activity and identical protein binding activity. Involved in several processes, including RNA polymerase II promoter clearance; positive trong>regulationtrong> trong>oftrong> cell population proliferation; and positive trong>regulationtrong> trong>oftrong> transcription by RNA polymerase II. Located in nucleoplasm. Part trong>oftrong> transcription preinitiation complex. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

trong>regulationtrong> trong>oftrong> nuclear pre-mRNA domain containing 2

Predicted to enable RNA polymerase II complex binding activity. Predicted to be involved in mRNA 3'-end processing. Part trong>oftrong> transcription preinitiation complex. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

growth trong>regulationtrong> by estrogen in breast cancer 1

This gene is an estrogen-responsive gene that is an early response gene in the estrogen receptor-regulated pathway. It is thought to play an important role in hormone-responsive tissues and cancer. Three alternatively spliced transcript variants encoding distinct istrong>oftrong>orms have been found for this gene. [provided by RefSeq, Jul 2008]

trong>regulationtrong> trong>oftrong> nuclear pre-mRNA domain containing 1A pseudogene

plaque enriched lncRNA in atherosclerotic and inflammatory bowel macrophage trong>regulationtrong>

p53 trong>regulationtrong> associated lncRNA

cytotoxic 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]

marginal zone B and B1 cell-specific protein

Involved in positive trong>regulationtrong> trong>oftrong> cell population proliferation. Located in cytoplasm and extracellular region. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

speedy/RINGO cell cycle regulator family member E12, pseudogene

Predicted to enable protein kinase binding activity. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

cell cycle exit and neuronal differentiation protein 1-like

cell division cycle 27 pseudogene 10

cell division cycle 27 pseudogene 11

cell division cycle associated 8 pseudogene

B-cell translocation gene 4

The protein encoded by this gene is a member trong>oftrong> 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]

B-cell translocation gene 1, anti-proliferative

This gene is a member trong>oftrong> an anti-proliferative gene family that regulates cell growth and differentiation. Expression trong>oftrong> this gene is highest in the G0/G1 phases trong>oftrong> the cell cycle and downregulated when cells progressed through G1. The encoded protein interacts with several nuclear receptors, and functions as a coactivator trong>oftrong> cell differentiation. This locus has been shown to be involved in a t(8;12)(q24;q22) chromosomal translocation in a case trong>oftrong> B-cell chronic lymphocytic leukemia. [provided by RefSeq, Oct 2008]

T 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 trong>oftrong> antigen presenting cells (APC). Each T cell receptor is a dimer consisting trong>oftrong> 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 trong>oftrong> 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 trong>oftrong> many different V segments with several J segments provides a wide range trong>oftrong> antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional trong>oftrong> 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 trong>oftrong> the alpha locus are known to be incapable trong>oftrong> encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

putative glycine-rich cell wall structural protein 1

mediator trong>oftrong> cell motility 1 pseudogene 4

mediator trong>oftrong> cell motility 1 pseudogene 2

mediator trong>oftrong> cell motility 1 pseudogene 3

programmed cell death 6 pseudogene

myeloid cell leukemia 1

This gene encodes an anti-apoptotic protein, which is a member trong>oftrong> the Bcl-2 family. Alternative splicing results in multiple transcript variants. The longest gene product (istrong>oftrong>orm 1) enhances cell survival by inhibiting apoptosis while the alternatively spliced shorter gene products (istrong>oftrong>orm 2 and istrong>oftrong>orm 3) promote apoptosis and are death-inducing. [provided by RefSeq, Oct 2010]

T cell receptor beta joining 2-4

Predicted to be involved in adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part trong>oftrong> T cell receptor complex. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

T cell receptor beta joining 2-5

Predicted to be involved in adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part trong>oftrong> T cell receptor complex. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

T cell receptor beta joining 2-6

Predicted to be involved in adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part trong>oftrong> T cell receptor complex. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

T cell receptor beta joining 2-7

Predicted to be involved in adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part trong>oftrong> T cell receptor complex. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

T cell receptor beta joining 2-1

Predicted to be involved in adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part trong>oftrong> T cell receptor complex. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

T cell receptor beta joining 2-2

Predicted to be involved in adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part trong>oftrong> T cell receptor complex. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

T cell receptor beta joining 2-3

Predicted to be involved in adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part trong>oftrong> T cell receptor complex. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

cell 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]

proliferating cell nuclear antigen

The protein encoded by this gene is found in the nucleus and is a ctrong>oftrong>actor trong>oftrong> DNA polymerase delta. The encoded protein acts as a homotrimer and helps increase the processivity trong>oftrong> 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 trong>oftrong> this gene have been described on chromosome 4 and on the X chromosome. [provided by RefSeq, Jul 2008]

BOC cell adhesion associated, oncogene regulated

The protein encoded by this gene is a member trong>oftrong> the immunoglobulin/fibronectin type III repeat family. It is a component trong>oftrong> 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 istrong>oftrong>orms. [provided by RefSeq, Sep 2014]

T cell receptor beta variable 20-1

Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part trong>oftrong> T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

cell adhesion associated, oncogene regulated pseudogene

cell division cycle 34

The protein encoded by this gene is a member trong>oftrong> the ubiquitin-conjugating enzyme family. Ubiquitin-conjugating enzyme catalyzes the covalent attachment trong>oftrong> ubiquitin to other proteins. This protein is a part trong>oftrong> the large multiprotein complex, which is required for ubiquitin-mediated degradation trong>oftrong> cell cycle G1 regulators, and for the initiation trong>oftrong> DNA replication. [provided by RefSeq, Jul 2008]

cell division cycle 37

The protein encoded by this gene is highly similar to Cdc 37, a cell division cycle control protein trong>oftrong> 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 trong>oftrong> 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]

B-cell CLL/lymphoma 9

BCL9 is associated with B-cell acute lymphoblastic leukemia. It may be a target trong>oftrong> translocation in B-cell malignancies with abnormalities trong>oftrong> 1q21. Its function is unknown. The overexpression trong>oftrong> BCL9 may be trong>oftrong> pathogenic significance in B-cell malignancies. [provided by RefSeq, Jul 2008]

B-cell CLL/lymphoma 5

B-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 trong>oftrong> transcription, and has been shown to modulate the transcription trong>oftrong> STAT-dependent IL-4 responses trong>oftrong> B cells. This protein can interact with a variety trong>oftrong> 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 trong>oftrong> DLCL. Alternatively spliced transcript variants encoding different protein istrong>oftrong>orms have been found for this gene. [provided by RefSeq, Aug 2015]

B-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 trong>oftrong> 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 trong>oftrong> this gene can be induced by NF-kappa B, which forms a part trong>oftrong> the autoregulatory loop that controls the nuclear residence trong>oftrong> p50 NF-kappa B. [provided by RefSeq, Jul 2008]

B-cell CLL/lymphoma 2

This gene encodes an integral outer mitochondrial membrane protein that blocks the apoptotic death trong>oftrong> some cells such as lymphocytes. Constitutive expression trong>oftrong> BCL2, such as in the case trong>oftrong> translocation trong>oftrong> BCL2 to Ig heavy chain locus, is thought to be the cause trong>oftrong> follicular lymphoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

histone cell cycle regulator

This gene encodes a histone chaperone that preferentially places the variant histone H3.3 in nucleosomes. Orthologs trong>oftrong> this gene in yeast, flies, and plants are necessary for the formation trong>oftrong> transcriptionally silent heterochomatin. This gene plays an important role in the formation trong>oftrong> 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 trong>oftrong> the gene may disrupt normal embryonic development. [provided by RefSeq, Jul 2008]

T 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 trong>oftrong> antigen presenting cells (APC). Each T cell receptor is a dimer consisting trong>oftrong> 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 trong>oftrong> 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 trong>oftrong> many different V segments with several J segments provides a wide range trong>oftrong> antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional trong>oftrong> 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 trong>oftrong> the alpha locus are known to be incapable trong>oftrong> encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

insulin-like 3 (Leydig cell)

This gene encodes a member trong>oftrong> the insulin-like hormone superfamily. The encoded protein is mainly produced in gonadal tissues. Studies trong>oftrong> the mouse counterpart suggest that this gene may be involved in the development trong>oftrong> urogenital tract and female fertility. This protein may also act as a hormone to regulate growth and differentiation trong>oftrong> 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]

killer cell immunoglobulin-like receptor 3DL1

killer 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 trong>oftrong> Genome Resources, Mar 2025]

myeloid cell nuclear differentiation antigen

The myeloid cell nuclear differentiation antigen (MNDA) is detected only in nuclei trong>oftrong> cells trong>oftrong> the granulocyte-monocyte lineage. A 200-amino acid region trong>oftrong> human MNDA is strikingly similar to a region in the proteins encoded by a family trong>oftrong> 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 trong>oftrong> FCER1A, APCS, CRP, and SPTA1. In its pattern trong>oftrong> expression and/or trong>regulationtrong>, MNDA resembles IFI16, suggesting that these genes participate in blood cell-specific responses to interferons. [provided by RefSeq, Jul 2008]

T cell receptor gamma joining 2

T cell receptor gamma joining 1

Predicted to be involved in adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part trong>oftrong> T cell receptor complex. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

T cell receptor gamma joining P

T cell receptor beta variable 6-8

Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part trong>oftrong> T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

T cell receptor beta variable 6-9

Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part trong>oftrong> T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

T cell receptor beta variable 6-5

Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part trong>oftrong> T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

T cell receptor beta variable 6-6

Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part trong>oftrong> T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

T cell receptor beta variable 6-7 (non-functional)

Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part trong>oftrong> T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

T cell receptor beta variable 6-2 (gene/pseudogene)

Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part trong>oftrong> T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

T cell receptor beta variable 6-3

Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part trong>oftrong> T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

proliferating cell nuclear antigen pseudogene 1

proliferating cell nuclear antigen pseudogene 4

T cell receptor beta constant 1

Predicted to be involved in T cell receptor signaling pathway; adaptive immune response; and alpha-beta T cell activation. Predicted to be located in membrane. Predicted to be part trong>oftrong> alpha-beta T cell receptor complex. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

T cell receptor beta constant 2

Predicted to be involved in T cell receptor signaling pathway; adaptive immune response; and alpha-beta T cell activation. Part trong>oftrong> alpha-beta T cell receptor complex. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

T cell receptor beta variable 21-1 (pseudogene)

cell death-inducing p53 target 1

Predicted to enable zinc ion binding activity. Acts upstream trong>oftrong> or within intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator. Located in cytoplasmic side trong>oftrong> late endosome membrane; cytoplasmic side trong>oftrong> lysosomal membrane; and nucleus. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

cell division cycle associated 8 pseudogene

scribbled 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 trong>oftrong> E6. Two alternatively spliced transcript variants that encode different protein istrong>oftrong>orms have been found for this gene. [provided by RefSeq, Nov 2011]

T-cell activation RhoGTPase activating protein

This gene encodes a member trong>oftrong> 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 istrong>oftrong>orms. [provided by RefSeq, Jul 2013]

neuronal cell adhesion molecule

Cell adhesion molecules (CAMs) are members trong>oftrong> 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 trong>oftrong> this gene have been associated with autism and addiction vulnerability. Alternative splicing results in multiple transcript variants encoding different istrong>oftrong>orms. [provided by RefSeq, Jul 2008]

mediator trong>oftrong> cell motility 1 pseudogene 1

defensin, alpha 6, Paneth cell-specific

Defensins are a family trong>oftrong> antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules trong>oftrong> neutrophils and also found in the epithelia trong>oftrong> mucosal surfaces such as those trong>oftrong> the intestine, respiratory tract, urinary tract, and vagina. Members trong>oftrong> 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 trong>oftrong> Paneth cells trong>oftrong> the small intestine, and likely plays a role in host defense trong>oftrong> human bowel. [provided by RefSeq, Oct 2014]

defensin, alpha 5, Paneth cell-specific

Defensins are a family trong>oftrong> antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules trong>oftrong> neutrophils and also found in the epithelia trong>oftrong> mucosal surfaces such as those trong>oftrong> the intestine, respiratory tract, urinary tract, and vagina. Members trong>oftrong> the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several trong>oftrong> 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 trong>oftrong> Paneth cells trong>oftrong> the ileum. [provided by RefSeq, Oct 2014]

T cell receptor beta variable 23/OR9-2 (non-functional)

programmed cell death 1 ligand 2

Involved in negative trong>regulationtrong> trong>oftrong> activated T cell proliferation; negative trong>regulationtrong> trong>oftrong> interleukin-10 production; and negative trong>regulationtrong> trong>oftrong> type II interferon production. Predicted to be located in plasma membrane. Predicted to be active in external side trong>oftrong> plasma membrane. Biomarker trong>oftrong> pulmonary tuberculosis. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

downregulated RNA in cancer, inhibitor trong>oftrong> cell invasion and migration

T cell receptor beta variable 30 (gene/pseudogene)

Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part trong>oftrong> T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

T-cell leukemia translocation altered

Involved in negative trong>regulationtrong> trong>oftrong> osteoclast differentiation and osteoclast fusion. Predicted to be located in membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

Sertoli cell-only syndrome, Y-linked

carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) pseudogene

zyg-11 family member B, cell cycle regulator

Involved in positive trong>regulationtrong> trong>oftrong> proteasomal ubiquitin-dependent protein catabolic process and protein quality control for misfolded or incompletely synthesized proteins. Part trong>oftrong> Cul2-RING ubiquitin ligase complex. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

zyg-11 family member A, cell cycle regulator

Predicted to be part trong>oftrong> Cul2-RING ubiquitin ligase complex. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

T cell receptor beta variable 3-1

Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part trong>oftrong> T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

T cell receptor beta variable 7-9

Predicted to enable MHC protein binding activity and peptide antigen binding activity. Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part trong>oftrong> T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

T cell receptor beta variable 7-8

Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part trong>oftrong> T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

T cell receptor beta variable 7-1 (non-functional)

Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part trong>oftrong> T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

T cell receptor beta variable 7-3

Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part trong>oftrong> T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

T cell receptor beta variable 7-2

Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part trong>oftrong> T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

T cell receptor beta variable 7-5 (pseudogene)

T cell receptor beta variable 7-4 (gene/pseudogene)

Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part trong>oftrong> T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

T cell receptor beta variable 7-7

Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part trong>oftrong> T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

T cell receptor beta variable 7-6

Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part trong>oftrong> T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

hexokinase 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]

cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)

Predicted to be involved in GPI anchor biosynthetic process. Predicted to act upstream trong>oftrong> or within several processes, including cerebrospinal fluid circulation; establishment trong>oftrong> 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 trong>oftrong> Genome Resources, Mar 2025]

mature 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 trong>oftrong> 3' exons that encode two different proteins. This gene represents the upstream 13 kDa protein that is a member trong>oftrong> the TCL1 family. This protein may be involved in leukemogenesis. [provided by RefSeq, Mar 2009]

cell division cycle associated 2

This gene encodes a targeting subunit trong>oftrong> 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 trong>regulationtrong> trong>oftrong> 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]

cell division cycle associated 3

Predicted to be involved in cell division and protein ubiquitination. Located in adherens junction. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

cell division cycle associated 7

This gene was identified as a c-Myc responsive gene, and behaves as a direct c-Myc target gene. Overexpression trong>oftrong> this gene is found to enhance the transformation trong>oftrong> 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 istrong>oftrong>orms have been reported. [provided by RefSeq, Jul 2008]

cell division cycle associated 4

This gene encodes a protein that belongs to the E2F family trong>oftrong> transcription factors. This protein regulates E2F-dependent transcriptional activation and cell proliferation, mainly through the E2F/retinoblastoma protein pathway. It also functions in the trong>regulationtrong> trong>oftrong> 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]

cell division cycle associated 5

Predicted to enable chromatin binding activity. Involved in chromosome organization; double-strand break repair; and positive trong>regulationtrong> trong>oftrong> exit from mitosis. Located in nucleoplasm. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

cell division cycle associated 8

This gene encodes a component trong>oftrong> the chromosomal passenger complex. This complex is an essential regulator trong>oftrong> 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 trong>oftrong> this gene are found on chromosomes 7, 8 and 16. [provided by RefSeq, Apr 2013]

mucin 4, cell surface associated

The major constituents trong>oftrong> 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 trong>oftrong> 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 istrong>oftrong>orms may exist. At least two dozen transcript variants trong>oftrong> this gene have been found, although for many trong>oftrong> 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) trong>oftrong> 48 nt tandem repeats. [provided by RefSeq, Jul 2008]

natural killer cell susceptibility 1

cell 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 trong>regulationtrong> trong>oftrong> protein phosphorylation; and positive trong>regulationtrong> trong>oftrong> protein targeting to membrane. Located in several cellular components, including clathrin-coated endocytic vesicle; endoplasmic reticulum; and nucleus. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

epithelial cell adhesion molecule

This gene encodes a carcinoma-associated antigen and is a member trong>oftrong> 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 trong>oftrong> human carcinomas. Mutations in this gene result in congenital tufting enteropathy. [provided by RefSeq, Dec 2008]

T 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 trong>oftrong> antigen presenting cells (APC). Each T cell receptor is a dimer consisting trong>oftrong> 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 trong>oftrong> 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 trong>oftrong> many different V segments with several J segments provides a wide range trong>oftrong> antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional trong>oftrong> 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 trong>oftrong> the alpha locus are known to be incapable trong>oftrong> encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

T 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 trong>oftrong> antigen presenting cells (APC). Each T cell receptor is a dimer consisting trong>oftrong> 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 trong>oftrong> 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 trong>oftrong> many different V segments with several J segments provides a wide range trong>oftrong> antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional trong>oftrong> 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 trong>oftrong> the alpha locus are known to be incapable trong>oftrong> encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

T 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 trong>oftrong> antigen presenting cells (APC). Each T cell receptor is a dimer consisting trong>oftrong> 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 trong>oftrong> 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 trong>oftrong> many different V segments with several J segments provides a wide range trong>oftrong> antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional trong>oftrong> 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 trong>oftrong> the alpha locus are known to be incapable trong>oftrong> encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

T 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 trong>oftrong> antigen presenting cells (APC). Each T cell receptor is a dimer consisting trong>oftrong> 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 trong>oftrong> 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 trong>oftrong> many different V segments with several J segments provides a wide range trong>oftrong> antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional trong>oftrong> 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 trong>oftrong> the alpha locus are known to be incapable trong>oftrong> encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

T 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 trong>oftrong> antigen presenting cells (APC). Each T cell receptor is a dimer consisting trong>oftrong> 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 trong>oftrong> 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 trong>oftrong> many different V segments with several J segments provides a wide range trong>oftrong> antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional trong>oftrong> 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 trong>oftrong> the alpha locus are known to be incapable trong>oftrong> encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

T 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 trong>oftrong> antigen presenting cells (APC). Each T cell receptor is a dimer consisting trong>oftrong> 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 trong>oftrong> 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 trong>oftrong> many different V segments with several J segments provides a wide range trong>oftrong> antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional trong>oftrong> 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 trong>oftrong> the alpha locus are known to be incapable trong>oftrong> encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

T 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 trong>oftrong> antigen presenting cells (APC). Each T cell receptor is a dimer consisting trong>oftrong> 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 trong>oftrong> 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 trong>oftrong> many different V segments with several J segments provides a wide range trong>oftrong> antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional trong>oftrong> 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 trong>oftrong> the alpha locus are known to be incapable trong>oftrong> encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

T 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 trong>oftrong> antigen presenting cells (APC). Each T cell receptor is a dimer consisting trong>oftrong> 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 trong>oftrong> 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 trong>oftrong> many different V segments with several J segments provides a wide range trong>oftrong> antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional trong>oftrong> 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 trong>oftrong> the alpha locus are known to be incapable trong>oftrong> encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

T 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 trong>oftrong> antigen presenting cells (APC). Each T cell receptor is a dimer consisting trong>oftrong> 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 trong>oftrong> 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 trong>oftrong> many different V segments with several J segments provides a wide range trong>oftrong> antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional trong>oftrong> 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 trong>oftrong> the alpha locus are known to be incapable trong>oftrong> encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

T 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 trong>oftrong> antigen presenting cells (APC). Each T cell receptor is a dimer consisting trong>oftrong> 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 trong>oftrong> 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 trong>oftrong> many different V segments with several J segments provides a wide range trong>oftrong> antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional trong>oftrong> 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 trong>oftrong> the alpha locus are known to be incapable trong>oftrong> encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

T 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 trong>oftrong> antigen presenting cells (APC). Each T cell receptor is a dimer consisting trong>oftrong> 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 trong>oftrong> 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 trong>oftrong> many different V segments with several J segments provides a wide range trong>oftrong> antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional trong>oftrong> 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 trong>oftrong> the alpha locus are known to be incapable trong>oftrong> encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

regulator trong>oftrong> 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 trong>oftrong> complement system proteins that result in activation trong>oftrong> 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 trong>oftrong> cell division cycle 2 protein. In different assays and cell types, overexpression trong>oftrong> this protein has been shown to activate or suppress cell cycle progression. [provided by RefSeq, Jul 2008]

T-cell leukemia/lymphoma 6 (non-protein coding)

T-cell leukemia/lymphoma 4

5-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 trong>oftrong> immunoglobulin genes. Is active in replication fork. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

host cell factor C1 regulator 1 (XPO1 dependent)

Located in nucleoplasm. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

T 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 trong>oftrong> antigen presenting cells (APC). Each T cell receptor is a dimer consisting trong>oftrong> 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 trong>oftrong> 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 trong>oftrong> many different V segments with several J segments provides a wide range trong>oftrong> antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional trong>oftrong> 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 trong>oftrong> the alpha locus are known to be incapable trong>oftrong> encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

mucin 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]

mucin 16, cell surface associated

This gene encodes a protein that is a member trong>oftrong> 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 trong>oftrong> 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 trong>oftrong> this gene have been used as a marker for different cancers, with higher expression levels associated with poorer outcomes. [provided by RefSeq, May 2017]

mucin 15, cell surface associated

Predicted to be located in Golgi lumen and plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

mucin 13, cell surface associated

Epithelial mucins, such as MUC13, are a family trong>oftrong> secreted and cell surface glycoproteins expressed by ductal and glandular epithelial tissues (Williams et al., 2001 [PubMed 11278439]).[supplied by OMIM, Jul 2008]

mucin 12, cell surface associated

This gene encodes an integral membrane glycoprotein that is a member trong>oftrong> 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 trong>oftrong> epithelial cells that line the mucosal surfaces trong>oftrong> many different tissues including the colon, pancreas, prostate, and uterus. The expression trong>oftrong> this gene is downregulated in colorectal cancer tissue. [provided by RefSeq, Apr 2017]

thyroid carcinoma, Hurthle cell

neural precursor cell expressed, developmentally down-regulated 8

Enables ubiquitin protein ligase binding activity. Acts upstream trong>oftrong> or within protein neddylation. Located in cytosol and nucleoplasm. Biomarker trong>oftrong> Parkinson's disease and malignant astrocytoma. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

neural precursor cell expressed, developmentally down-regulated 9

The protein encoded by this gene is a member trong>oftrong> the CRK-associated substrates family. Members trong>oftrong> 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]

neural 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 trong>oftrong> Genome Resources, Mar 2025]

hematopoietic 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 trong>regulationtrong> trong>oftrong> macromolecule metabolic process; and positive trong>regulationtrong> trong>oftrong> phosphatidylinositol 3-kinase/protein kinase B signal transduction. Located in cytosol; nucleus; and plasma membrane. Part trong>oftrong> transcription regulator complex. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

E2F1-regulated inhibitor trong>oftrong> cell death (non-protein coding)

T cell receptor gamma variable 5P (pseudogene)

par-3 family cell polarity regulator

This gene encodes a member trong>oftrong> 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]

mal, T-cell differentiation protein-like pseudogene

CD244 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 istrong>oftrong>orms have been found for this gene.[provided by RefSeq, Oct 2009]

carboxypeptidase A3 (mast cell)

This gene encodes a member trong>oftrong> the carboxypeptidase A family trong>oftrong> 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 trong>oftrong> endogenous proteins and the inactivation trong>oftrong> venom-associated peptides. Expression trong>oftrong> this gene may be elevated in human asthma patients. [provided by RefSeq, Nov 2015]

LIM 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 trong>oftrong> Genome Resources, Mar 2025]

T 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 trong>oftrong> T cell receptor complex. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3

This gene encodes a subunit trong>oftrong> 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 trong>oftrong> protons helps regulate the pH trong>oftrong> 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 trong>oftrong> 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]

frequently 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 trong>oftrong> beta-catenin and positively regulates the Wnt signaling pathway. It may function in tumor progression and in lymphomagenesis. [provided by RefSeq, Oct 2008]

frequently 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 trong>oftrong> the WNT signaling pathway. It may be upregulated in tumor progression. [provided by RefSeq, Jul 2008]

killer cell immunoglobulin-like receptor 2DL2

stromal cell-derived factor 2-like 1

Enables misfolded protein binding activity. Involved in chaperone ctrong>oftrong>actor-dependent protein refolding. Located in endoplasmic reticulum. Part trong>oftrong> protein folding chaperone complex. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

vegetative cell wall protein gp1-like

Basal cell carcinoma, susceptibility to, 5

T cell receptor beta variable 21/OR9-2 (pseudogene)

vegetative cell wall protein gp1-like

melanoma cell adhesion molecule

Involved in glomerular filtration and vascular wound healing. Acts upstream trong>oftrong> or within angiogenesis. Located in external side trong>oftrong> plasma membrane. Biomarker trong>oftrong> chronic obstructive pulmonary disease and uveal melanoma. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

killer cell lectin-like receptor subfamily G, member 1

Natural killer (NK) cells are lymphocytes that can mediate lysis trong>oftrong> 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 trong>oftrong> transmembrane proteins preferentially expressed in NK cells. Studies in mice suggested that the expression trong>oftrong> this gene may be regulated by MHC class I molecules. [provided by RefSeq, Jun 2016]

malignant 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 trong>oftrong> Genome Resources, Mar 2025]

cell 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 trong>regulationtrong> trong>oftrong> cell migration and positive trong>regulationtrong> trong>oftrong> cell population proliferation. Acts upstream trong>oftrong> or within positive trong>regulationtrong> trong>oftrong> apoptotic process. Located in nuclear envelope lumen. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

cell 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; trong>regulationtrong> trong>oftrong> primary metabolic process; and trong>regulationtrong> trong>oftrong> signal transduction. Located in several cellular components, including mitochondrial matrix; nucleoplasm; and spindle. Part trong>oftrong> DBIRD complex. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

programmed cell death 2 pseudogene

meteorin, glial cell differentiation regulator

Meteorin regulates glial cell differentiation and promotes the formation trong>oftrong> axonal networks during neurogenesis (Nishino et al., 2004 [PubMed 15085178]).[supplied by OMIM, Mar 2008]

Purkinje cell protein 4

Enables calcium ion binding activity and calmodulin binding activity. Involved in positive trong>regulationtrong> trong>oftrong> CAMKK-AMPK signaling cascade and positive trong>regulationtrong> trong>oftrong> neuron differentiation. Located in cytosol and nucleus. Part trong>oftrong> protein-containing complex. Biomarker trong>oftrong> Huntington's disease and leiomyoma. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

Purkinje cell protein 2

Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to act upstream trong>oftrong> or within G protein-coupled opsin signaling pathway. Predicted to be located in neuronal cell body. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

cutaneous 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 trong>oftrong> Genome Resources, Mar 2025]

germ cell-less, spermatogenesis associated 1 pseudogene 1

This locus shares a high degree trong>oftrong> 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]

germ cell-less, spermatogenesis associated 1 pseudogene 2

T 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 trong>oftrong> antigen presenting cells (APC). Each T cell receptor is a dimer consisting trong>oftrong> 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 trong>oftrong> 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 trong>oftrong> many different V segments with several J segments provides a wide range trong>oftrong> antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional trong>oftrong> 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 trong>oftrong> the alpha locus are known to be incapable trong>oftrong> encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

killer cell lectin-like receptor subfamily G, member 2

Predicted to enable carbohydrate binding activity. Predicted to be located in membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

small cell cancer trong>oftrong> the lung

killer 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 trong>oftrong> the C-type lectin superfamily, including the rodent NKRP1 family trong>oftrong> glycoproteins, are expressed by NK cells and may be involved in the trong>regulationtrong> trong>oftrong> NK cell function. The KLRB1 protein contains an extracellular domain with several motifs characteristic trong>oftrong> 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]

Disrupted in B-cell neoplasia

male germ cell tumor

T cell receptor beta diversity 1

Predicted to be involved in adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part trong>oftrong> T cell receptor complex. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

killer cell immunoglobulin-like receptor 2DS1

vegetative cell wall protein gp1-like

cell death-inducing DFFA-like effector c pseudogene

cell 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 trong>oftrong> Genome Resources, Mar 2025]

Basal cell carcinoma, susceptibility to, 6

VANGL planar cell polarity protein 1

This gene encodes a member trong>oftrong> 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]

T 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 trong>oftrong> antigen presenting cells (APC). Each T cell receptor is a dimer consisting trong>oftrong> 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 trong>oftrong> 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 trong>oftrong> many different V segments with several J segments provides a wide range trong>oftrong> antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional trong>oftrong> 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 trong>oftrong> the alpha locus are known to be incapable trong>oftrong> encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

T 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 trong>oftrong> antigen presenting cells (APC). Each T cell receptor is a dimer consisting trong>oftrong> 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 trong>oftrong> 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 trong>oftrong> many different V segments with several J segments provides a wide range trong>oftrong> antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional trong>oftrong> 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 trong>oftrong> the alpha locus are known to be incapable trong>oftrong> encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]