Harmonizome 3.0

From ESCAPE

Sets trong>oftrong> target genes trong>oftrong> transcription factors from published ChIP-chip, ChIP-seq, and other transcription factor binding site prtrong>oftrong>iling studies;sets trong>oftrong> differentially expressed genes following perturbation trong>oftrong> a protein from gene expression data in GEO; sets trong>oftrong> interacting proteins from high- and low-throughput protein-protein interaction studies; sets trong>oftrong> targets trong>oftrong> microRNAs from public databases, computationally predicted or experimentally verified

From Achilles

Fitness scores for trong>celltrong> lines following single gene knockdowns

From BioGPS

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

From BioGPS

mRNA expression prtrong>oftrong>iles for human tissues and trong>celltrong> types

From BioGPS

mRNA expression prtrong>oftrong>iles for mouse tissues and trong>celltrong> types

From Cancer trong>Celltrong> Line Encyclopedia

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

From Cancer trong>Celltrong> Line Encyclopedia

mRNA microarray expression prtrong>oftrong>iles for cancer trong>celltrong> lines

From Cancer trong>Celltrong> Line Encyclopedia

Gene-level mutation prtrong>oftrong>iles for cancer trong>celltrong> lines

From Catalogue trong>oftrong> Somatic Mutations In Cancer

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

From Catalogue trong>oftrong> Somatic Mutations In Cancer

Gene mutations in cancer trong>celltrong> lines from low-throughput or high-throughput studies

From Genomics trong>oftrong> Drug Sensitivity in Cancer

mRNA microarray expression prtrong>oftrong>iles for cancer trong>celltrong> lines

From Heiser et al., PNAS, 2011

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

From Human Protein Atlas

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

From Human Proteome Map

Protein expression prtrong>oftrong>iles for tissues and trong>celltrong> types

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

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

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

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

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

SNP gene mutations in cancer trong>celltrong> lines identified by microarray

From Proteomics Database

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

From Roadmap Epigenomics

DNA methylation prtrong>oftrong>iles for primary trong>celltrong> types and tissues

From Roadmap Epigenomics

mRNA expression prtrong>oftrong>iles for primary trong>celltrong> 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 trong>Celltrong> Line Encyclopedia

Protein intensity values acquired using mass spectrometry across human cancerous trong>celltrong> lines

From The Human BioMolecular Atlas Program

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

From trong>Celltrong>Marker

trong>Celltrong> type markers across various tissues from human and mouse scRNA-seq

From Replogle et al., trong>Celltrong>, 2022

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

From Replogle et al., trong>Celltrong>, 2022

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

From Replogle et al., trong>Celltrong>, 2022

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

From trong>Celltrong> Maps for AI

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

From trong>Celltrong> Maps for AI

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

T-trong>celltrong> 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]

V-set domain containing T trong>celltrong> activation inhibitor 1

This gene encodes a protein belonging to the B7 costimulatory protein family. Proteins in this family are present on the surface trong>oftrong> antigen-presenting trong>celltrong>s and interact with ligand bound to receptors on the surface trong>oftrong> T trong>celltrong>s. Studies have shown that high levels trong>oftrong> the encoded protein has been correlated with tumor progression. A pseudogene trong>oftrong> this gene is located on chromosome 20. Multiple transcript variants encoding different istrong>oftrong>orms have been found for this gene. [provided by RefSeq, Dec 2011]

V-set domain containing T trong>celltrong> activation inhibitor 1 pseudogene

T trong>celltrong> activation inhibitor, mitochondrial

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

T-trong>celltrong> activation antigen p250

programmed trong>celltrong> trong>deathtrong> 6 pseudogene

trong>celltrong> trong>deathtrong>-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]

programmed trong>celltrong> trong>deathtrong> 1 ligand 2

Involved in negative regulation trong>oftrong> activated T trong>celltrong> proliferation; negative regulation trong>oftrong> interleukin-10 production; and negative regulation 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]

E2F1-regulated inhibitor trong>oftrong> trong>celltrong> trong>deathtrong> (non-protein coding)

programmed trong>celltrong> trong>deathtrong> 2 pseudogene

trong>celltrong> trong>deathtrong>-inducing DFFA-like effector c pseudogene

trong>celltrong> trong>deathtrong> regulator Aven-like

BH3-like motif containing, trong>celltrong> trong>deathtrong> inducer

This gene encodes a BH3-like motif containing protein involved in trong>celltrong> trong>deathtrong>. 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]

trong>celltrong> trong>deathtrong>-inducing DFFA-like effector c

This gene encodes a member trong>oftrong> the trong>celltrong> trong>deathtrong>-inducing DNA fragmentation factor-like effector family. Members trong>oftrong> 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 trong>oftrong> this gene is located on the short arm trong>oftrong> chromosome 3. Alternatively spliced transcript variants that encode different istrong>oftrong>orms have been observed for this gene. [provided by RefSeq, Dec 2010]

trong>celltrong> trong>deathtrong>-inducing DFFA-like effector a

This gene encodes the homolog trong>oftrong> the mouse protein Cidea that has been shown to activate apoptosis. This activation trong>oftrong> 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]

programmed trong>celltrong> trong>deathtrong> 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 trong>celltrong> receptor-, Fas-, and glucocorticoid-induced programmed trong>celltrong> trong>deathtrong>. 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 istrong>oftrong>orms have been observed for this gene, and a pseudogene trong>oftrong> this gene is also located on the short arm trong>oftrong> chromosome 5. [provided by RefSeq, May 2012]

programmed trong>celltrong> trong>deathtrong> 7

This gene encodes a 59 kDa protein that is associated with the U11 small nuclear ribonucleoprotein (snRNP), which is a component trong>oftrong> the minor U12-type spliceosome responsible for catalyzing pre-mRNA splicing trong>oftrong> U12-type introns. [provided by RefSeq, Dec 2010]

programmed trong>celltrong> trong>deathtrong> 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]

programmed trong>celltrong> trong>deathtrong> 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 trong>oftrong> K(lysine) acetyltransferase 5 (a protein involved in transcription, DNA damage response and trong>celltrong> cycle control) by inhibiting its proteasome-dependent degradation. Pseudogenes have been identified on chromosomes 5 and 12 [provided by RefSeq, Dec 2010]

programmed trong>celltrong> trong>deathtrong> 2

This gene encodes a nuclear protein expressed in a variety trong>oftrong> tissues. Expression trong>oftrong> this gene has been shown to be repressed by B-trong>celltrong> 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]

programmed trong>celltrong> trong>deathtrong> 1

Programmed trong>celltrong> trong>deathtrong> protein 1 (PDCD1) is an immune-inhibitory receptor expressed in activated T trong>celltrong>s; it is involved in the regulation trong>oftrong> T-trong>celltrong> functions, including those trong>oftrong> effector CD8+ T trong>celltrong>s. In addition, this protein can also promote the differentiation trong>oftrong> CD4+ T trong>celltrong>s into T regulatory trong>celltrong>s. PDCD1 is expressed in many types trong>oftrong> 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 trong>oftrong> effective anti-tumor and anti-microbial immunity. [provided by RefSeq, Aug 2020]

programmed trong>celltrong> trong>deathtrong> 10

This gene encodes an evolutionarily conserved protein associated with trong>celltrong> apoptosis. The protein interacts with the serine/threonine protein kinase MST4 to modulate the extratrong>celltrong>ular 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 trong>oftrong> 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]

programmed trong>celltrong> trong>deathtrong> 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 trong>oftrong> 18S rRNA (Sweet et al., 2003 [PubMed 14624448]; Sweet et al., 2008 [PubMed 17654514]).[supplied by OMIM, Oct 2008]

programmed trong>celltrong> trong>deathtrong> 5 pseudogene 1

programmed trong>celltrong> trong>deathtrong> 5 pseudogene 2

defender against trong>celltrong> trong>deathtrong> 1 pseudogene 1

programmed trong>celltrong> trong>deathtrong> 10 pseudogene

programmed trong>celltrong> trong>deathtrong> 2-like

Predicted to be involved in apoptotic process. Located in membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

programmed trong>celltrong> trong>deathtrong> 2 pseudogene

BCL2-associated agonist trong>oftrong> trong>celltrong> trong>deathtrong>

The protein encoded by this gene is a member trong>oftrong> the BCL-2 family. BCL-2 family members are known to be regulators trong>oftrong> programmed trong>celltrong> trong>deathtrong>. This protein positively regulates trong>celltrong> apoptosis by forming heterodimers with BCL-xL (B-trong>celltrong> lymphoma-extra large) and BCL-2, and reversing their trong>deathtrong> repressor activity. Proapoptotic activity trong>oftrong> 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 trong>oftrong> this protein. Alternative splicing trong>oftrong> this gene results in two transcript variants which encode the same istrong>oftrong>orm. [provided by RefSeq, Dec 2019]

trong>celltrong> trong>deathtrong>-inducing DFFA-like effector b

Enables identical protein binding activity. Involved in lipid droplet fusion and positive regulation trong>oftrong> apoptotic process. Acts upstream trong>oftrong> or within apoptotic process. Located in cytosol and perinuclear region trong>oftrong> cytoplasm. Is active in lipid droplet. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

Fas trong>celltrong> surface trong>deathtrong> receptor

The protein encoded by this gene is a member trong>oftrong> the TNF-receptor superfamily. This receptor contains a trong>deathtrong> domain. It has been shown to play a central role in the physiological regulation trong>oftrong> programmed trong>celltrong> trong>deathtrong>, and has been implicated in the pathogenesis trong>oftrong> various malignancies and diseases trong>oftrong> the immune system. The interaction trong>oftrong> this receptor with its ligand allows the formation trong>oftrong> a trong>deathtrong>-inducing signaling complex that includes Fas-associated trong>deathtrong> domain protein (FADD), caspase 8, and caspase 10. The autoproteolytic processing trong>oftrong> 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 trong>celltrong>s. Several alternatively spliced transcript variants have been described, some trong>oftrong> which are candidates for nonsense-mediated mRNA decay (NMD). The istrong>oftrong>orms lacking the transmembrane domain may negatively regulate the apoptosis mediated by the full length istrong>oftrong>orm. [provided by RefSeq, Mar 2011]

programmed trong>celltrong> trong>deathtrong> 2-like pseudogene

defender against trong>celltrong> trong>deathtrong> 1

DAD1, the defender against apoptotic trong>celltrong> trong>deathtrong>, was initially identified as a negative regulator trong>oftrong> programmed trong>celltrong> trong>deathtrong> in the temperature sensitive tsBN7 trong>celltrong> line. The DAD1 protein disappeared in temperature-sensitive trong>celltrong>s following a shift to the nonpermissive temperature, suggesting that loss trong>oftrong> the DAD1 protein triggered apoptosis. DAD1 is believed to be a tightly associated subunit trong>oftrong> oligosaccharyltransferase both in the intact membrane and in the purified enzyme, thus reflecting the essential nature trong>oftrong> N-linked glycosylation in eukaryotes. [provided by RefSeq, Jul 2008]

programmed trong>celltrong> trong>deathtrong> 6 interacting protein

This gene encodes a protein that functions within the ESCRT pathway in the abscission stage trong>oftrong> cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse trong>celltrong>s have shown that overexpression trong>oftrong> this protein can block apoptosis. In addition, the product trong>oftrong> this gene binds to the product trong>oftrong> 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 trong>oftrong> this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against trong>celltrong> trong>deathtrong>. Several alternatively spliced transcript variants encoding different istrong>oftrong>orms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012]

trong>celltrong> trong>deathtrong> activator CIDE-3-like

DAP3 binding trong>celltrong> trong>deathtrong> enhancer 1

Enables protein kinase binding activity and protein serine/threonine kinase activator activity. Involved in several processes, including HRI-mediated signaling; positive regulation trong>oftrong> mitophagy; and response to iron ion starvation. Located in mitochondrial inner membrane. Is active in cytosol and mitochondrial outer membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

trong>celltrong> trong>deathtrong> inducing DFFA like effector c pseudogene 1

lysosome trong>celltrong> trong>deathtrong> regulator

PAX interacting (with transcription-activation domain) protein 1

This gene is a member trong>oftrong> the paired box (PAX) gene family and encodes a nuclear protein with six BRCT (breast cancer carboxy-terminal) domains. This protein plays a critical role in maintaining genome stability, condensation trong>oftrong> chromatin and progression through mitosis. [provided by RefSeq, Jul 2008]

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta

This gene product belongs to the 14-3-3 family trong>oftrong> proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse and rat orthologs. This gene is upregulated in patients with amyotrophic lateral sclerosis. It contains in its 5' UTR a 6 bp tandem repeat sequence which is polymorphic, however, there is no correlation between the repeat number and the disease. [provided by RefSeq, Jul 2008]

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta

This gene product belongs to the 14-3-3 family trong>oftrong> proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse, rat and bovine orthologs. This gene contains a 7 bp repeat sequence in its 5' UTR, and changes in the number trong>oftrong> this repeat have been associated with early-onset schizophrenia and psychotic bipolar disorder. [provided by RefSeq, Jun 2009]

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta

This gene encodes a protein belonging to the 14-3-3 family trong>oftrong> proteins, members trong>oftrong> which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals. The encoded protein has been shown to interact with RAF1 and CDC25 phosphatases, suggesting that it may play a role in linking mitogenic signaling and the trong>celltrong> cycle machinery. Two transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma

This gene product belongs to the 14-3-3 family trong>oftrong> proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the rat ortholog. It is induced by growth factors in human vascular smooth muscle trong>celltrong>s, and is also highly expressed in skeletal and heart muscles, suggesting an important role for this protein in muscle tissue. It has been shown to interact with RAF1 and protein kinase C, proteins involved in various signal transduction pathways. [provided by RefSeq, Jul 2008]

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon

This gene product belongs to the 14-3-3 family trong>oftrong> proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the mouse ortholog. It interacts with CDC25 phosphatases, RAF1 and IRS1 proteins, suggesting its role in diverse biochemical activities related to signal transduction, such as trong>celltrong> division and regulation trong>oftrong> insulin sensitivity. It has also been implicated in the pathogenesis trong>oftrong> small trong>celltrong> lung cancer. Two transcript variants, one protein-coding and the other non-protein-coding, have been found for this gene. [provided by RefSeq, Aug 2008]

chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)

This antimicrobial gene is one trong>oftrong> several Cys-Cys (CC) cytokine genes clustered on the q arm trong>oftrong> chromosome 17. Cytokines are a family trong>oftrong> secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for naive T trong>celltrong>s, CD4+ and CD8+ T trong>celltrong>s and nonactivated lymphocytes, but not for monocytes or granulocytes. This chemokine attracts naive T lymphocytes toward dendritic trong>celltrong>s and activated macrophages in lymph nodes. It may play a role in both humoral and trong>celltrong>-mediated immunity responses. [provided by RefSeq, Sep 2014]

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 8

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 9

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 2

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 3

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 1

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 6

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 5

linker for activation trong>oftrong> T trong>celltrong>s family, member 2

This gene is one trong>oftrong> the contiguous genes at 7q11.23 commonly deleted in Williams syndrome, a multisystem developmental disorder. This gene consists trong>oftrong> at least 14 exons, and its alternative splicing generates 3 transcript variants, all encoding the same protein. [provided by RefSeq, Jul 2008]

lymphocyte-activation gene 3

Lymphocyte-activation protein 3 belongs to Ig superfamily and contains 4 extratrong>celltrong>ular Ig-like domains. The LAG3 gene contains 8 exons. The sequence data, exon/intron organization, and chromosomal localization all indicate a close relationship trong>oftrong> LAG3 to CD4. [provided by RefSeq, Jul 2008]

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide pseudogene

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide pseudogene

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta

This gene product belongs to the 14-3-3 family trong>oftrong> proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse, rat and sheep orthologs. The encoded protein interacts with IRS1 protein, suggesting a role in regulating insulin sensitivity. Several transcript variants that differ in the 5' UTR but that encode the same protein have been identified for this gene. [provided by RefSeq, Oct 2008]

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 7

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 4

apoptosis, caspase activation inhibitor

Involved in negative regulation trong>oftrong> apoptotic process. Located in membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide pseudogene

neutral sphingomyelinase (N-SMase) activation associated factor

This gene encodes a WD-repeat protein that binds the cytoplasmic sphingomyelinase activation domain trong>oftrong> the 55kD tumor necrosis factor receptor. This protein is required for TNF-mediated activation trong>oftrong> neutral sphingomyelinase and may play a role in regulating TNF-induced trong>celltrong>ular responses such as inflammation. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009]

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon pseudogene 5

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon pseudogene 7

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon pseudogene 1

signaling lymphocytic activation molecule family member 1

Enables several functions, including SH2 domain binding activity; identical protein binding activity; and virus receptor activity. Involved in several processes, including negative regulation trong>oftrong> CD40 signaling pathway; negative regulation trong>oftrong> cytokine production; and positive regulation trong>oftrong> MAPK cascade. Located in extratrong>celltrong>ular exosome. Is active in plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

fibroblast 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 trong>oftrong> epithelial cancers, granulation tissue trong>oftrong> healing wounds, and malignant trong>celltrong>s trong>oftrong> bone and strong>oftrong>t tissue sarcomas. This protein is thought to be involved in the control trong>oftrong> fibroblast growth or epithelial-mesenchymal interactions during development, tissue repair, and epithelial carcinogenesis. Alternatively spliced transcript variants encoding different istrong>oftrong>orms have been found for this gene. [provided by RefSeq, Apr 2014]

ctrong>oftrong>actor required for Sp1 transcriptional activation, subunit 5, 85kDa

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta pseudogene 2

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta pseudogene 1

A20-binding inhibitor trong>oftrong> NF-kappaB activation 2 pseudogene

linker for activation trong>oftrong> T trong>celltrong>s

The protein encoded by this gene is phosphorylated by ZAP-70/Syk protein tyrosine kinases following activation trong>oftrong> the T-trong>celltrong> antigen receptor (TCR) signal transduction pathway. This transmembrane protein localizes to lipid rafts and acts as a docking site for SH2 domain-containing proteins. Upon phosphorylation, this protein recruits multiple adaptor proteins and downstream signaling molecules into multimolecular signaling complexes located near the site trong>oftrong> TCR engagement. Alternative splicing results in multiple transcript variants encoding different istrong>oftrong>orms. [provided by RefSeq, Jul 2008]

transcription activation suppressor

Enables chromatin binding activity. Involved in protein localization to heterochromatin and transposable element silencing by heterochromatin formation. Located in heterochromatin and nucleoplasm. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

transcription activation suppressor family member 2

Predicted to be involved in negative regulation trong>oftrong> gene expression, epigenetic. Located in cytosol and nucleoplasm. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

ankyrin repeat and trong>deathtrong> domain containing 1A

Predicted to be involved in signal transduction. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

ankyrin repeat and trong>deathtrong> domain containing 1B

Predicted to be involved in signal transduction. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

trong>deathtrong> associated protein-like 1

Predicted to enable ribosome binding activity; translation initiation factor binding activity; and translation repressor activity. Predicted to be involved in several processes, including trong>celltrong>ular response to amino acid starvation; negative regulation trong>oftrong> CD8-positive, alpha-beta T trong>celltrong> activation; and negative regulation trong>oftrong> metabolic process. Predicted to act upstream trong>oftrong> or within trong>celltrong> population proliferation and gene expression. Predicted to be located in membrane. Predicted to be active in nucleus. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

trong>deathtrong> associated protein 3 pseudogene 1

trong>deathtrong> associated protein 3 pseudogene 2

CASP2 and RIPK1 domain containing adaptor with trong>deathtrong> domain

This gene encodes a protein containing a trong>deathtrong> domain (DD) motif. This protein recruits caspase 2/ICH1 to the trong>celltrong> trong>deathtrong> signal transduction complex, which includes tumor necrosis factor receptor 1 (TNFR1A) and RIPK1/RIP kinase, and acts in promoting apoptosis. A mutation in this gene was associated with cognitive disability. A related pseudogene is found on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

tumor necrosis factor receptor superfamily, member 10d, decoy with truncated trong>deathtrong> domain pseudogene

neurotrophin receptor associated trong>deathtrong> domain, pseudogene

The neurotrophin receptor alike trong>deathtrong> domain proteins belong to the trong>deathtrong> domain superfamily and are involved in mediating apoptosis. This gene has been inactivated by mutation and is nonfunctional in humans. [provided by RefSeq, Oct 2008]

Fas (TNFRSF6)-associated via trong>deathtrong> domain

The protein encoded by this gene is an adaptor molecule that interacts with various trong>celltrong> surface receptors and mediates trong>celltrong> apoptotic signals. Through its C-terminal trong>deathtrong> domain, this protein can be recruited by TNFRSF6/Fas-receptor, tumor necrosis factor receptor, TNFRSF25, and TNFSF10/TRAIL-receptor, and thus it participates in the trong>deathtrong> signaling initiated by these receptors. Interaction trong>oftrong> this protein with the receptors unmasks the N-terminal effector domain trong>oftrong> this protein, which allows it to recruit caspase-8, and thereby activate the cysteine protease cascade. Knockout studies in mice also suggest the importance trong>oftrong> this protein in early T trong>celltrong> development. [provided by RefSeq, Jul 2008]

TNFRSF1A-associated via trong>deathtrong> domain

The protein encoded by this gene is a trong>deathtrong> domain containing adaptor molecule that interacts with TNFRSF1A/TNFR1 and mediates programmed trong>celltrong> trong>deathtrong> signaling and NF-kappaB activation. This protein binds adaptor protein TRAF2, reduces the recruitment trong>oftrong> inhibitor-trong>oftrong>-apoptosis proteins (IAPs) by TRAF2, and thus suppresses TRAF2 mediated apoptosis. This protein can also interact with receptor TNFRSF6/FAS and adaptor protein FADD/MORT1, and is involved in the Fas-induced trong>celltrong> trong>deathtrong> pathway. [provided by RefSeq, Jul 2008]

trong>deathtrong>-associated protein kinase 3

trong>Deathtrong>-associated protein kinase 3 (DAPK3) induces morphological changes in apoptosis when overexpressed in mammalian trong>celltrong>s. These results suggest that DAPK3 may play a role in the induction trong>oftrong> apoptosis. [provided by RefSeq, Jul 2008]

trong>deathtrong>-associated protein kinase 2

This gene encodes a protein that belongs to the serine/threonine protein kinase family. This protein contains a N-terminal protein kinase domain followed by a conserved calmodulin-binding domain with significant similarity to that trong>oftrong> trong>deathtrong>-associated protein kinase 1 (DAPK1), a positive regulator trong>oftrong> programmed trong>celltrong> trong>deathtrong>. Overexpression trong>oftrong> this gene was shown to induce trong>celltrong> apoptosis. It uses multiple polyadenylation sites. [provided by RefSeq, Jul 2008]

trong>deathtrong>-associated protein kinase 1

trong>Deathtrong>-associated protein kinase 1 is a positive mediator trong>oftrong> gamma-interferon induced programmed trong>celltrong> trong>deathtrong>. DAPK1 encodes a structurally unique 160-kD calmodulin dependent serine-threonine kinase that carries 8 ankyrin repeats and 2 putative P-loop consensus sites. It is a tumor suppressor candidate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

CASP2 and RIPK1 domain containing adaptor with trong>deathtrong> domain pseudogene

trong>deathtrong>-associated protein 4C

tumor necrosis factor receptor superfamily, member 10d, decoy with truncated trong>deathtrong> domain

The protein encoded by this gene is a member trong>oftrong> the TNF-receptor superfamily. This receptor contains an extratrong>celltrong>ular TRAIL-binding domain, a transmembrane domain, and a truncated cytoplamic trong>deathtrong> domain. This receptor does not induce apoptosis, and has been shown to play an inhibitory role in TRAIL-induced trong>celltrong> apoptosis. [provided by RefSeq, Jul 2008]

trong>deathtrong> inducer-obliterator 1

Apoptosis, a major form trong>oftrong> trong>celltrong> trong>deathtrong>, is an efficient mechanism for eliminating unwanted trong>celltrong>s and is trong>oftrong> central importance for development and homeostasis in metazoan animals. In mice, the trong>deathtrong> inducer-obliterator-1 gene is upregulated by apoptotic signals and encodes a cytoplasmic protein that translocates to the nucleus upon apoptotic signal activation. When overexpressed, the mouse protein induced apoptosis in trong>celltrong> lines growing in vitro. This gene is similar to the mouse gene and therefore is thought to be involved in apoptosis. Alternatively spliced transcripts have been found for this gene, encoding multiple istrong>oftrong>orms. [provided by RefSeq, Jul 2008]

trong>deathtrong>-domain associated protein

This gene encodes a multifunctional protein that resides in multiple locations in the nucleus and in the cytoplasm. It interacts with a wide variety trong>oftrong> proteins, such as apoptosis antigen Fas, centromere protein C, and transcription factor erythroblastosis virus E26 oncogene homolog 1. In the nucleus, the encoded protein functions as a potent transcription repressor that binds to sumoylated transcription factors. Its repression can be relieved by the sequestration trong>oftrong> this protein into promyelocytic leukemia nuclear bodies or nucleoli. This protein also associates with centromeres in G2 phase. In the cytoplasm, the encoded protein may function to regulate apoptosis. The subtrong>celltrong>ular localization and function trong>oftrong> this protein are modulated by post-translational modifications, including sumoylation, phosphorylation and polyubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]

trong>deathtrong> effector domain containing

This gene encodes a protein that contains a trong>deathtrong> effector domain (DED). DED is a protein-protein interaction domain shared by adaptors, regulators and executors trong>oftrong> the programmed trong>celltrong> trong>deathtrong> pathway. Overexpression trong>oftrong> this gene was shown to induce weak apoptosis. Upon stimulation, this protein was found to translocate from cytoplasm to nucleus and colocalize with UBTF, a basal factor required for RNA polymerase I transcription, in the nucleolus. At least three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

MAP-kinase activating trong>deathtrong> domain

Tumor necrosis factor alpha (TNF-alpha) is a signaling molecule that interacts with one trong>oftrong> two receptors on trong>celltrong>s targeted for apoptosis. The apoptotic signal is transduced inside these trong>celltrong>s by cytoplasmic adaptor proteins. The protein encoded by this gene is a trong>deathtrong> domain-containing adaptor protein that interacts with the trong>deathtrong> domain trong>oftrong> TNF-alpha receptor 1 to activate mitogen-activated protein kinase (MAPK) and propagate the apoptotic signal. It is membrane-bound and expressed at a higher level in neoplastic trong>celltrong>s than in normal trong>celltrong>s. Several transcript variants encoding different istrong>oftrong>orms have been described for this gene. [provided by RefSeq, Jul 2008]

leucine-rich repeats and trong>deathtrong> domain containing 1

Predicted to be involved in signal transduction. Predicted to be active in cytoplasm. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

trong>deathtrong> domain containing 1

This gene encodes a protein which contains a trong>deathtrong> domain. trong>Deathtrong> domain-containing proteins function in signaling pathways and formation trong>oftrong> signaling complexes, as well as the apoptosis pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]

BH3 interacting domain trong>deathtrong> agonist

This gene encodes a trong>deathtrong> agonist that heterodimerizes with either agonist BAX or antagonist BCL2, and thus regulate apoptosis. The encoded protein is a member trong>oftrong> the BCL-2 family trong>oftrong> trong>celltrong> trong>deathtrong> regulators. It is a mediator trong>oftrong> mitochondrial damage induced by caspase-8 (CASP8); CASP8 cleaves this encoded protein, and the COOH-terminal part translocates to mitochondria where it triggers cytochrome c release. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Aug 2020]

trong>deathtrong>-associated protein

This gene encodes a basic, proline-rich, 15-kD protein. The protein acts as a positive mediator trong>oftrong> programmed trong>celltrong> trong>deathtrong> that is induced by interferon-gamma. Alternatively spliced transcript variants encoding distinct istrong>oftrong>orms have been found for this gene. [provided by RefSeq, May 2014]

trong>deathtrong> effector domain containing 2

This gene encodes a nuclear-localized protein containing a trong>deathtrong> effector domain (DED). The encoded protein may regulate the trafficking trong>oftrong> caspases and other proteins into the nucleus during trong>deathtrong> receptor-induced apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]

trong>deathtrong>-associated protein kinase 1 pseudogene

trong>deathtrong> associated protein 3

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist trong>oftrong> a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that also participates in apoptotic pathways which are initiated by tumor necrosis factor-alpha, Fas ligand, and gamma interferon. This protein potentially binds ATP/GTP and might be a functional partner trong>oftrong> the mitoribosomal protein S27. Multiple alternatively spliced transcript variants encoding distinct istrong>oftrong>orms have been found for this gene. Pseudogenes corresponding to this gene are found on chromosomes 1q and 2q. [provided by RefSeq, Dec 2010]

EDAR-associated trong>deathtrong> domain

This gene was identified by its association with ectodermal dysplasia, a genetic disorder characterized by defective development trong>oftrong> hair, teeth, and eccrine sweat glands. The protein encoded by this gene is a trong>deathtrong> domain-containing protein, and is found to interact with EDAR, a trong>deathtrong> domain receptor known to be required for the development trong>oftrong> hair, teeth and other ectodermal derivatives. This protein and EDAR are coexpressed in epithelial trong>celltrong>s during the formation trong>oftrong> hair follicles and teeth. Through its interaction with EDAR, this protein acts as an adaptor, and links the receptor to downstream signaling pathways. Two alternatively spliced transcript variants trong>oftrong> this gene encoding distinct istrong>oftrong>orms have been reported. [provided by RefSeq, Jul 2008]

transmembrane and trong>deathtrong> domain 1

Predicted to be involved in signal transduction. Predicted to be located in membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

cytotoxic and regulatory T trong>celltrong> molecule

The CRTAM gene is upregulated in CD4 (see MIM 186940)-positive and CD8 (see CD8A; MIM 186910)-positive T trong>celltrong>s 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 trong>celltrong>-specific protein

Involved in positive regulation trong>oftrong> trong>celltrong> population proliferation. Located in cytoplasm and extratrong>celltrong>ular region. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

speedy/RINGO trong>celltrong> cycle regulator family member E12, pseudogene

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

trong>celltrong> cycle exit and neuronal differentiation protein 1-like

trong>celltrong> division cycle 27 pseudogene 10

trong>celltrong> division cycle 27 pseudogene 11

trong>celltrong> division cycle associated 8 pseudogene

B-trong>celltrong> 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 trong>celltrong> cycle. [provided by RefSeq, Jul 2008]

B-trong>celltrong> translocation gene 1, anti-proliferative

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

T trong>celltrong> receptor alpha variable 23/delta variable 6

T trong>celltrong> 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 trong>celltrong>s (APC). Each T trong>celltrong> receptor is a dimer consisting trong>oftrong> one alpha and one beta chain or one delta and one gamma chain. In a single trong>celltrong>, the T trong>celltrong> receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the trong>celltrong> expresses delta and gamma. If not, the trong>celltrong> proceeds to rearrange the beta and alpha loci. This region represents the germline organization trong>oftrong> the T trong>celltrong> 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 trong>celltrong> 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 trong>celltrong> wall structural protein 1

mediator trong>oftrong> trong>celltrong> motility 1 pseudogene 4

mediator trong>oftrong> trong>celltrong> motility 1 pseudogene 2

mediator trong>oftrong> trong>celltrong> motility 1 pseudogene 3

myeloid trong>celltrong> 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 trong>celltrong> survival by inhibiting apoptosis while the alternatively spliced shorter gene products (istrong>oftrong>orm 2 and istrong>oftrong>orm 3) promote apoptosis and are trong>deathtrong>-inducing. [provided by RefSeq, Oct 2010]

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

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

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

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

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

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

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

trong>celltrong> cycle exit and neuronal differentiation 1

The protein encoded by this gene is a neuron-specific protein. The similar protein in pig enhances neuroblastoma trong>celltrong> 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 trong>celltrong> 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 trong>celltrong> 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 trong>celltrong>-surface receptor complex that mediates trong>celltrong>-trong>celltrong> interactions between muscle precursor trong>celltrong>s, and promotes myogenic differentiation. Alternative splicing results in multiple transcript variants encoding different istrong>oftrong>orms. [provided by RefSeq, Sep 2014]

T trong>celltrong> receptor beta variable 20-1

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

trong>celltrong> adhesion associated, oncogene regulated pseudogene

trong>celltrong> 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> trong>celltrong> cycle G1 regulators, and for the initiation trong>oftrong> DNA replication. [provided by RefSeq, Jul 2008]

trong>celltrong> division cycle 37

The protein encoded by this gene is highly similar to Cdc 37, a trong>celltrong> division cycle control protein trong>oftrong> Sacchromyces cerevisiae. This protein is a molecular chaperone with specific function in trong>celltrong> 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-trong>celltrong> CLL/lymphoma 9

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

B-trong>celltrong> CLL/lymphoma 5

B-trong>celltrong> 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 trong>celltrong>s. 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-trong>celltrong> 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-trong>celltrong> 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-trong>celltrong> 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-trong>celltrong> CLL/lymphoma 2

This gene encodes an integral outer mitochondrial membrane protein that blocks the apoptotic trong>deathtrong> trong>oftrong> some trong>celltrong>s 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 trong>celltrong> 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 trong>celltrong> cycle changes that occur in senescent trong>celltrong>s. 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 trong>celltrong> receptor alpha joining 32

T trong>celltrong> 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 trong>celltrong>s (APC). Each T trong>celltrong> receptor is a dimer consisting trong>oftrong> one alpha and one beta chain or one delta and one gamma chain. In a single trong>celltrong>, the T trong>celltrong> receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the trong>celltrong> expresses delta and gamma. If not, the trong>celltrong> proceeds to rearrange the beta and alpha loci. This region represents the germline organization trong>oftrong> the T trong>celltrong> 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 trong>celltrong> 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 trong>celltrong>)

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 trong>celltrong> immunoglobulin-like receptor 3DL1

killer trong>celltrong> immunoglobulin-like receptor, three domains, X1

Predicted to be involved in immune response-regulating signaling pathway. Predicted to be located in extratrong>celltrong>ular region. Predicted to be active in plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

myeloid trong>celltrong> nuclear differentiation antigen

The myeloid trong>celltrong> nuclear differentiation antigen (MNDA) is detected only in nuclei trong>oftrong> trong>celltrong>s 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 trong>celltrong>- 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 regulation, MNDA resembles IFI16, suggesting that these genes participate in blood trong>celltrong>-specific responses to interferons. [provided by RefSeq, Jul 2008]

T trong>celltrong> receptor gamma joining 2

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

T trong>celltrong> receptor gamma joining P

T trong>celltrong> receptor beta variable 6-8

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

T trong>celltrong> receptor beta variable 6-9

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

T trong>celltrong> receptor beta variable 6-5

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

T trong>celltrong> receptor beta variable 6-6

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

T trong>celltrong> receptor beta variable 6-7 (non-functional)

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

T trong>celltrong> receptor beta variable 6-2 (gene/pseudogene)

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

T trong>celltrong> receptor beta variable 6-3

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

proliferating trong>celltrong> nuclear antigen pseudogene 1

proliferating trong>celltrong> nuclear antigen pseudogene 4

T trong>celltrong> receptor beta constant 1

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

T trong>celltrong> receptor beta constant 2

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

T trong>celltrong> receptor beta variable 21-1 (pseudogene)

trong>celltrong> division cycle associated 8 pseudogene

scribbled planar trong>celltrong> 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 trong>celltrong> 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]

neuronal trong>celltrong> adhesion molecule

trong>Celltrong> adhesion molecules (CAMs) are members trong>oftrong> the immunoglobulin superfamily. This gene encodes a neuronal trong>celltrong> 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 trong>celltrong>-trong>celltrong> communication via signaling from its intratrong>celltrong>ular domain to the actin cytoskeleton during directional trong>celltrong> 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> trong>celltrong> motility 1 pseudogene 1

defensin, alpha 6, Paneth trong>celltrong>-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 trong>celltrong>s 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 trong>celltrong>-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 trong>celltrong>s trong>oftrong> the ileum. [provided by RefSeq, Oct 2014]

T trong>celltrong> receptor beta variable 23/OR9-2 (non-functional)

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

T trong>celltrong> receptor beta variable 30 (gene/pseudogene)

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

T-trong>celltrong> leukemia translocation altered

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

Sertoli trong>celltrong>-only syndrome, Y-linked

carcinoembryonic antigen-related trong>celltrong> adhesion molecule 1 (biliary glycoprotein) pseudogene

zyg-11 family member B, trong>celltrong> cycle regulator

Involved in positive regulation 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, trong>celltrong> cycle regulator

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

T trong>celltrong> receptor beta variable 3-1

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

T trong>celltrong> receptor beta variable 7-9

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

T trong>celltrong> receptor beta variable 7-8

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

T trong>celltrong> receptor beta variable 7-1 (non-functional)

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

T trong>celltrong> receptor beta variable 7-3

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

T trong>celltrong> receptor beta variable 7-2

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

T trong>celltrong> receptor beta variable 7-5 (pseudogene)

T trong>celltrong> receptor beta variable 7-4 (gene/pseudogene)

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

T trong>celltrong> receptor beta variable 7-7

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

T trong>celltrong> receptor beta variable 7-6

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

hexokinase 3 (white trong>celltrong>)

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]

trong>celltrong> 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 extratrong>celltrong>ular region and membrane. Predicted to be active in endoplasmic reticulum. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]

mature T-trong>celltrong> proliferation 1

This gene was identified by involvement in some t(X;14) translocations associated with mature T-trong>celltrong> 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]

trong>celltrong> division cycle associated 2

This gene encodes a targeting subunit trong>oftrong> the trong>celltrong>-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 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]

trong>celltrong> division cycle associated 3

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

trong>celltrong> 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 trong>celltrong>s, and it complements a transformation-defective Myc Box II mutant, suggesting its involvement in c-Myc-mediated trong>celltrong> transformation. Two alternatively spliced transcript variants encoding distinct istrong>oftrong>orms have been reported. [provided by RefSeq, Jul 2008]

trong>celltrong> 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 trong>celltrong> proliferation, mainly through the E2F/retinoblastoma protein pathway. It also functions in the regulation 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]

trong>celltrong> division cycle associated 5

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

trong>celltrong> 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 trong>celltrong> division. This protein is trong>celltrong>-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, trong>celltrong> 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 trong>celltrong>s and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the trong>celltrong> 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 trong>celltrong> susceptibility 1

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

epithelial trong>celltrong> 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 trong>celltrong>s and gastrointestinal carcinomas and functions as a homotypic calcium-independent trong>celltrong> 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 trong>celltrong> receptor alpha joining 29

T trong>celltrong> 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 trong>celltrong>s (APC). Each T trong>celltrong> receptor is a dimer consisting trong>oftrong> one alpha and one beta chain or one delta and one gamma chain. In a single trong>celltrong>, the T trong>celltrong> receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the trong>celltrong> expresses delta and gamma. If not, the trong>celltrong> proceeds to rearrange the beta and alpha loci. This region represents the germline organization trong>oftrong> the T trong>celltrong> 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 trong>celltrong> 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 trong>celltrong> receptor alpha joining 28

T trong>celltrong> 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 trong>celltrong>s (APC). Each T trong>celltrong> receptor is a dimer consisting trong>oftrong> one alpha and one beta chain or one delta and one gamma chain. In a single trong>celltrong>, the T trong>celltrong> receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the trong>celltrong> expresses delta and gamma. If not, the trong>celltrong> proceeds to rearrange the beta and alpha loci. This region represents the germline organization trong>oftrong> the T trong>celltrong> 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 trong>celltrong> 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 trong>celltrong> receptor alpha joining 27

T trong>celltrong> 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 trong>celltrong>s (APC). Each T trong>celltrong> receptor is a dimer consisting trong>oftrong> one alpha and one beta chain or one delta and one gamma chain. In a single trong>celltrong>, the T trong>celltrong> receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the trong>celltrong> expresses delta and gamma. If not, the trong>celltrong> proceeds to rearrange the beta and alpha loci. This region represents the germline organization trong>oftrong> the T trong>celltrong> 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 trong>celltrong> 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]