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]
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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]
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V-set domain containing T trong>celltrong> activation inhibitor 1 pseudogene
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T trong>celltrong> activation inhibitor, mitochondrial
Located in mitochondrion. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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T-trong>celltrong> activation antigen p250
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programmed trong>celltrong> trong>deathtrong> 6 pseudogene
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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]
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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]
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E2F1-regulated inhibitor trong>oftrong> trong>celltrong> trong>deathtrong> (non-protein coding)
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programmed trong>celltrong> trong>deathtrong> 2 pseudogene
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trong>celltrong> trong>deathtrong>-inducing DFFA-like effector c pseudogene
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trong>celltrong> trong>deathtrong> regulator Aven-like
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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]
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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]
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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]
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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]
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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]
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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]
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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]
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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]
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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]
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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]
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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]
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programmed trong>celltrong> trong>deathtrong> 5 pseudogene 1
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programmed trong>celltrong> trong>deathtrong> 5 pseudogene 2
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defender against trong>celltrong> trong>deathtrong> 1 pseudogene 1
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programmed trong>celltrong> trong>deathtrong> 10 pseudogene
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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]
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programmed trong>celltrong> trong>deathtrong> 2 pseudogene
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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]
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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]
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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]
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programmed trong>celltrong> trong>deathtrong> 2-like pseudogene
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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]
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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]
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trong>celltrong> trong>deathtrong> activator CIDE-3-like
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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]
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trong>celltrong> trong>deathtrong> inducing DFFA like effector c pseudogene 1
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lysosome trong>celltrong> trong>deathtrong> regulator
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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]
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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]
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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]
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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]
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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]
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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]
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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]
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tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 8
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tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 9
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tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 2
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tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 3
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tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 1
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tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 6
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tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 5
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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]
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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]
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tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide pseudogene
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tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide pseudogene
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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]
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tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 7
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tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 4
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apoptosis, caspase activation inhibitor
Involved in negative regulation trong>oftrong> apoptotic process. Located in membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide pseudogene
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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]
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tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon pseudogene 5
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tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon pseudogene 7
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tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon pseudogene 1
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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]
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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]
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ctrong>oftrong>actor required for Sp1 transcriptional activation, subunit 5, 85kDa
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tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta pseudogene 2
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tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta pseudogene 1
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A20-binding inhibitor trong>oftrong> NF-kappaB activation 2 pseudogene
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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]
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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]
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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]
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ankyrin repeat and trong>deathtrong> domain containing 1A
Predicted to be involved in signal transduction. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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ankyrin repeat and trong>deathtrong> domain containing 1B
Predicted to be involved in signal transduction. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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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]
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trong>deathtrong> associated protein 3 pseudogene 1
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trong>deathtrong> associated protein 3 pseudogene 2
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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]
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tumor necrosis factor receptor superfamily, member 10d, decoy with truncated trong>deathtrong> domain pseudogene
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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]
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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]
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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]
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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]
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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]
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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]
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CASP2 and RIPK1 domain containing adaptor with trong>deathtrong> domain pseudogene
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trong>deathtrong>-associated protein 4C
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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]
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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]
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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]
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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]
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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]
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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]
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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]
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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]
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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]
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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]
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trong>deathtrong>-associated protein kinase 1 pseudogene
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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]
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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]
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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]
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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]
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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]
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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]
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trong>celltrong> cycle exit and neuronal differentiation protein 1-like
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trong>celltrong> division cycle 27 pseudogene 10
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trong>celltrong> division cycle 27 pseudogene 11
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trong>celltrong> division cycle associated 8 pseudogene
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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]
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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]
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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]
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putative glycine-rich trong>celltrong> wall structural protein 1
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mediator trong>oftrong> trong>celltrong> motility 1 pseudogene 4
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mediator trong>oftrong> trong>celltrong> motility 1 pseudogene 2
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mediator trong>oftrong> trong>celltrong> motility 1 pseudogene 3
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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]
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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]
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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]
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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]
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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]
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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]
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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]
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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]
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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]
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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]
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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]
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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]
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trong>celltrong> adhesion associated, oncogene regulated pseudogene
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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]
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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]
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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]
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B-trong>celltrong> CLL/lymphoma 5
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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]
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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]
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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]
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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]
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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]
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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]
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killer trong>celltrong> immunoglobulin-like receptor 3DL1
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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]
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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]
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T trong>celltrong> receptor gamma joining 2
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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]
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T trong>celltrong> receptor gamma joining P
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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]
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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]
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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]
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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]
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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]
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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]
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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]
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proliferating trong>celltrong> nuclear antigen pseudogene 1
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proliferating trong>celltrong> nuclear antigen pseudogene 4
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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]
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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]
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T trong>celltrong> receptor beta variable 21-1 (pseudogene)
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trong>celltrong> division cycle associated 8 pseudogene
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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]
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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]
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mediator trong>oftrong> trong>celltrong> motility 1 pseudogene 1
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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]
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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]
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T trong>celltrong> receptor beta variable 23/OR9-2 (non-functional)
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downregulated RNA in cancer, inhibitor trong>oftrong> trong>celltrong> invasion and migration
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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]
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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]
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Sertoli trong>celltrong>-only syndrome, Y-linked
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carcinoembryonic antigen-related trong>celltrong> adhesion molecule 1 (biliary glycoprotein) pseudogene
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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]
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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]
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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]
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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]
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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]
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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]
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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]
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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]
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T trong>celltrong> receptor beta variable 7-5 (pseudogene)
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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]
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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]
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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]
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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]
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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]
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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]
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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]
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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]
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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]
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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]
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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]
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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]
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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]
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natural killer trong>celltrong> susceptibility 1
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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]
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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]
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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]
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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]
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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]
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T trong>celltrong> receptor alpha joining 26
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]
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T trong>celltrong> receptor alpha joining 25 (non-functional)
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]
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T trong>celltrong> receptor alpha joining 24
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]
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T trong>celltrong> receptor alpha joining 23
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]
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T trong>celltrong> receptor alpha joining 22
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]
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T trong>celltrong> receptor alpha joining 21
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]
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T trong>celltrong> receptor alpha joining 20
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]
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T trong>celltrong> receptor alpha variable 5
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]
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regulator trong>oftrong> trong>celltrong> cycle
This gene is thought to regulate trong>celltrong> 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 trong>celltrong> 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> trong>celltrong> division cycle 2 protein. In different assays and trong>celltrong> types, overexpression trong>oftrong> this protein has been shown to activate or suppress trong>celltrong> cycle progression. [provided by RefSeq, Jul 2008]
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T-trong>celltrong> leukemia/lymphoma 6 (non-protein coding)
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T-trong>celltrong> leukemia/lymphoma 4
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5-hydroxymethylcytosine (hmC) binding, ES trong>celltrong>-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]
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host trong>celltrong> factor C1 regulator 1 (XPO1 dependent)
Located in nucleoplasm. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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T trong>celltrong> receptor alpha variable 29/delta variable 5 (gene/pseudogene)
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]
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mucin 17, trong>celltrong> surface associated
The protein encoded by this gene is a membrane-bound mucin that provides protection to gut epithelial trong>celltrong>s. 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 trong>celltrong> 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]
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mucin 16, trong>celltrong> 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 extratrong>celltrong>ular 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 trong>celltrong>s 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]
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mucin 15, trong>celltrong> surface associated
Predicted to be located in Golgi lumen and plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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mucin 13, trong>celltrong> surface associated
Epithelial mucins, such as MUC13, are a family trong>oftrong> secreted and trong>celltrong> surface glycoproteins expressed by ductal and glandular epithelial tissues (Williams et al., 2001 [PubMed 11278439]).[supplied by OMIM, Jul 2008]
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mucin 12, trong>celltrong> 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 intratrong>celltrong>ular signaling. This protein is expressed on the apical membrane surface trong>oftrong> epithelial trong>celltrong>s 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]
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thyroid carcinoma, Hurthle trong>celltrong>
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neural precursor trong>celltrong> 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]
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neural precursor trong>celltrong> 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 trong>celltrong> attachment, migration and invasion as well as apoptosis and the trong>celltrong> 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]
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neural precursor trong>celltrong> expressed, developmentally down-regulated 1
Predicted to enable gamma-tubulin binding activity. Predicted to be involved in microtubule nucleation and mitotic trong>celltrong> cycle. Located in centrosome; cytosol; and nuclear lumen. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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hematopoietic trong>celltrong>-specific Lyn substrate 1
Enables RNA polymerase II-specific DNA-binding transcription factor binding activity; protein kinase binding activity; and signaling adaptor activity. Involved in several processes, including granulocyte colony-stimulating factor signaling pathway; positive regulation trong>oftrong> macromolecule metabolic process; and positive regulation 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]
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T trong>celltrong> receptor gamma variable 5P (pseudogene)
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par-3 family trong>celltrong> 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 trong>celltrong> division and direct polarized trong>celltrong> growth. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]
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mal, T-trong>celltrong> differentiation protein-like pseudogene
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CD244 molecule, natural killer trong>celltrong> receptor 2B4
This gene encodes a trong>celltrong> surface receptor expressed on natural killer (NK) trong>celltrong>s (and some T trong>celltrong>s) that mediate non-major histocompatibility complex (MHC) restricted killing. The interaction between NK-trong>celltrong> and target trong>celltrong>s via this receptor is thought to modulate NK-trong>celltrong> cytolytic activity. Alternatively spliced transcript variants encoding different istrong>oftrong>orms have been found for this gene.[provided by RefSeq, Oct 2009]
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carboxypeptidase A3 (mast trong>celltrong>)
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 trong>celltrong>s 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]
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LIM and senescent trong>celltrong> 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]
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T trong>celltrong> 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 trong>celltrong> receptor complex. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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T-trong>celltrong>, 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> trong>celltrong>s and their surrounding environment. V-ATPase dependent organelle acidification is necessary for such intratrong>celltrong>ular 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]
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frequently rearranged in advanced T-trong>celltrong> 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]
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frequently rearranged in advanced T-trong>celltrong> 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]
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killer trong>celltrong> immunoglobulin-like receptor 2DL2
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stromal trong>celltrong>-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]
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vegetative trong>celltrong> wall protein gp1-like
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Basal trong>celltrong> carcinoma, susceptibility to, 5
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T trong>celltrong> receptor beta variable 21/OR9-2 (pseudogene)
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vegetative trong>celltrong> wall protein gp1-like
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melanoma trong>celltrong> 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]
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killer trong>celltrong> lectin-like receptor subfamily G, member 1
Natural killer (NK) trong>celltrong>s are lymphocytes that can mediate lysis trong>oftrong> certain tumor trong>celltrong>s and virus-infected trong>celltrong>s without previous activation. They can also regulate specific humoral and trong>celltrong>-mediated immunity. The protein encoded by this gene belongs to the killer trong>celltrong> lectin-like receptor (KLR) family, which is a group trong>oftrong> transmembrane proteins preferentially expressed in NK trong>celltrong>s. Studies in mice suggested that the expression trong>oftrong> this gene may be regulated by MHC class I molecules. [provided by RefSeq, Jun 2016]
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malignant T trong>celltrong> 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]
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trong>celltrong> division cycle and apoptosis regulator 1
Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; nuclear receptor coactivator activity; and transcription corepressor activity. Involved in positive regulation trong>oftrong> trong>celltrong> migration and positive regulation trong>oftrong> trong>celltrong> population proliferation. Acts upstream trong>oftrong> or within positive regulation trong>oftrong> apoptotic process. Located in nuclear envelope lumen. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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trong>celltrong> cycle and apoptosis regulator 2
Enables RNA polymerase II complex binding activity and enzyme inhibitor activity. Involved in several processes, including mitochondrial fragmentation involved in apoptotic process; regulation trong>oftrong> primary metabolic process; and regulation trong>oftrong> signal transduction. Located in several trong>celltrong>ular components, including mitochondrial matrix; nucleoplasm; and spindle. Part trong>oftrong> DBIRD complex. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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meteorin, glial trong>celltrong> differentiation regulator
Meteorin regulates glial trong>celltrong> differentiation and promotes the formation trong>oftrong> axonal networks during neurogenesis (Nishino et al., 2004 [PubMed 15085178]).[supplied by OMIM, Mar 2008]
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Purkinje trong>celltrong> protein 4
Enables calcium ion binding activity and calmodulin binding activity. Involved in positive regulation trong>oftrong> CAMKK-AMPK signaling cascade and positive regulation 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]
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Purkinje trong>celltrong> 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 trong>celltrong> body. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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cutaneous T-trong>celltrong> 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]
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germ trong>celltrong>-less, spermatogenesis associated 1 pseudogene 1
This locus shares a high degree trong>oftrong> identity with the multi-exon germ trong>celltrong>-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 trong>celltrong>-less related protein. [provided by RefSeq, Jul 2008]
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germ trong>celltrong>-less, spermatogenesis associated 1 pseudogene 2
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T trong>celltrong> receptor alpha variable 14/delta variable 4
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]
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killer trong>celltrong> 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]
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small trong>celltrong> cancer trong>oftrong> the lung
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killer trong>celltrong> lectin-like receptor subfamily B, member 1
Natural killer (NK) trong>celltrong>s 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 trong>celltrong>s and may be involved in the regulation trong>oftrong> NK trong>celltrong> function. The KLRB1 protein contains an extratrong>celltrong>ular 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]
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Disrupted in B-trong>celltrong> neoplasia
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male germ trong>celltrong> tumor
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T trong>celltrong> 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 trong>celltrong> receptor complex. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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killer trong>celltrong> immunoglobulin-like receptor 2DS1
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vegetative trong>celltrong> wall protein gp1-like
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trong>celltrong> 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]
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Basal trong>celltrong> carcinoma, susceptibility to, 6
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VANGL planar trong>celltrong> 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]
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T trong>celltrong> receptor alpha joining 16
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]
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T trong>celltrong> receptor alpha joining 17
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]
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T trong>celltrong> receptor alpha joining 14
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]
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T trong>celltrong> receptor alpha joining 15
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]
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T trong>celltrong> receptor alpha joining 12
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]
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T trong>celltrong> receptor alpha joining 13
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]
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T trong>celltrong> receptor alpha joining 10
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]
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T trong>celltrong> receptor alpha joining 11
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]
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T trong>celltrong> receptor alpha joining 18
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]
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T trong>celltrong> receptor alpha joining 19 (non-functional)
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]
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B-trong>celltrong> CLL/lymphoma 6, member B
Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in negative regulation trong>oftrong> transcription by RNA polymerase II; regulation trong>oftrong> cytokine production; and regulation trong>oftrong> immune system process. Predicted to be located in nucleus. Predicted to be active in nucleoplasm. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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SWAP switching B-trong>celltrong> complex 70kDa subunit
Enables cadherin binding activity. Predicted to be involved in regulation trong>oftrong> small GTPase mediated signal transduction. Predicted to act upstream trong>oftrong> or within isotype switching. Located in actin cytoskeleton; cytoplasm; and plasma membrane. Is active in postsynapse. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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trong>celltrong> division cycle 5-like
The protein encoded by this gene shares a significant similarity with Schizosaccharomyces pombe cdc5 gene product, which is a trong>celltrong> cycle regulator important for G2/M transition. This protein has been demonstrated to act as a positive regulator trong>oftrong> trong>celltrong> cycle G2/M progression. It was also found to be an essential component trong>oftrong> a non-snRNA spliceosome, which contains at least five additional protein factors and is required for the second catalytic step trong>oftrong> pre-mRNA splicing. [provided by RefSeq, Jul 2008]
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killer trong>celltrong> immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5
Killer trong>celltrong> immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer trong>celltrong>s and subsets trong>oftrong> T trong>celltrong>s. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content trong>oftrong> the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number trong>oftrong> extratrong>celltrong>ular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets trong>oftrong> HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation trong>oftrong> the immune response. [provided by RefSeq, Jul 2008]
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killer trong>celltrong> immunoglobulin-like receptor, three domains, pseudogene
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killer trong>celltrong> immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2
Killer trong>celltrong> immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer trong>celltrong>s and subsets trong>oftrong> T trong>celltrong>s. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content trong>oftrong> the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number trong>oftrong> extratrong>celltrong>ular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets trong>oftrong> HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation trong>oftrong> the immune response. This gene represents a haplotype-specific family member that encodes a protein with a short cytoplasmic tail. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
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speedy/RINGO trong>celltrong> cycle regulator family member E10, pseudogene
Enables acetylcholine receptor regulator activity. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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T trong>celltrong> receptor beta joining 2-2P (non-functional)
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follicular dendritic trong>celltrong> secreted protein
This gene encodes a small secreted protein that is expressed in follicular dendritic trong>celltrong>s. This protein specifically binds to activated B trong>celltrong>s, and functions as a regulator trong>oftrong> antibody responses. It is also thought to contribute to tumor metastases by promoting cancer trong>celltrong> migration and invasion. [provided by RefSeq, Dec 2011]
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T trong>celltrong> receptor beta variable 11-3
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]
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T trong>celltrong> receptor beta variable 11-1
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]
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early B-trong>celltrong> factor 4
EBF4 belongs to the conserved Olf/EBF family trong>oftrong> helix-loop-helix transcription factors, members trong>oftrong> which play important roles in neural development and B-trong>celltrong> maturation (Wang et al., 2002 [PubMed 12139918]).[supplied by OMIM, Mar 2008]
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early B-trong>celltrong> factor 3
This gene encodes a member trong>oftrong> the early B-trong>celltrong> factor (EBF) family trong>oftrong> DNA binding transcription factors. EBF proteins are involved in B-trong>celltrong> differentiation, bone development and neurogenesis, and may also function as tumor suppressors. The encoded protein inhibits trong>celltrong> survival through the regulation trong>oftrong> genes involved in trong>celltrong> cycle arrest and apoptosis, and aberrant methylation or deletion trong>oftrong> this gene may play a role in multiple malignancies including glioblastoma multiforme and gastric carcinoma. [provided by RefSeq, Sep 2011]
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early B-trong>celltrong> factor 2
The protein encoded by this gene belongs to the COE (Collier/Olf/EBF) family trong>oftrong> non-basic, helix-loop-helix transcription factors that have a well conserved DNA binding domain. The COE family proteins play an important role in variety trong>oftrong> developmental processes. Studies in mouse suggest that this gene may be involved in the differentiation trong>oftrong> osteoblasts. [provided by RefSeq, Oct 2011]
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early B-trong>celltrong> factor 1
Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in positive regulation trong>oftrong> transcription by RNA polymerase II. Predicted to act upstream trong>oftrong> or within positive regulation trong>oftrong> DNA-templated transcription. Predicted to be located in chromatin. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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trong>celltrong> growth regulator with ring finger domain 1
Predicted to enable metal ion binding activity. Predicted to be involved in negative regulation trong>oftrong> trong>celltrong> growth. Located in endoplasmic reticulum and nucleoplasm. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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glycosylation dependent trong>celltrong> adhesion molecule 1 (pseudogene)
Predicted to enable trong>celltrong> adhesion molecule binding activity and sulfate binding activity. Predicted to act upstream trong>oftrong> or within response to bacterium. Predicted to be located in extratrong>celltrong>ular region. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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vegetative trong>celltrong> wall protein gp1
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T trong>celltrong> receptor alpha variable 20
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]
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trong>celltrong> division cycle associated 7-like
Acts upstream trong>oftrong> or within positive regulation trong>oftrong> trong>celltrong> population proliferation. Located in cytosol; fibrillar center; and nucleoplasm. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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T trong>celltrong> immunoreceptor with Ig and ITIM domains
This gene encodes a member trong>oftrong> the PVR (poliovirus receptor) family trong>oftrong> immunoglobin proteins. The product trong>oftrong> this gene is expressed on several classes trong>oftrong> T trong>celltrong>s including follicular B helper T trong>celltrong>s (TFH). The protein has been shown to bind PVR with high affinity; this binding is thought to assist interactions between TFH and dendritic trong>celltrong>s to regulate T trong>celltrong> dependent B trong>celltrong> responses.[provided by RefSeq, Sep 2009]
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multiciliate differentiation and DNA synthesis associated trong>celltrong> cycle protein
This gene encodes a member trong>oftrong> the geminin family trong>oftrong> proteins. The encoded nuclear protein is required for the generation trong>oftrong> multiciliated trong>celltrong>s in respiratory epithelium. Mutations in this gene cause a rare mucociliary clearance disorder associated with recurring respiratory infections in human patients, known as reduced generation trong>oftrong> multiple motile cilia (RGMC). [provided by RefSeq, Sep 2016]
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natural killer trong>celltrong> cytotoxicity receptor 3 ligand 1
B7H6 belongs to the B7 family (see MIM 605402) and is selectively expressed on tumor trong>celltrong>s. Interaction trong>oftrong> B7H6 with NKp30 (NCR3; MIM 611550) results in natural killer (NK) trong>celltrong> activation and cytotoxicity (Brandt et al., 2009 [PubMed 19528259]).[supplied by OMIM, Jan 2011]
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killer trong>celltrong> immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1
Killer trong>celltrong> immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer trong>celltrong>s and subsets trong>oftrong> T trong>celltrong>s. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content trong>oftrong> the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number trong>oftrong> extratrong>celltrong>ular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets trong>oftrong> HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation trong>oftrong> the immune response. [provided by RefSeq, Jul 2008]
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killer trong>celltrong> immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2
Killer trong>celltrong> immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer trong>celltrong>s and subsets trong>oftrong> T trong>celltrong>s. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content trong>oftrong> the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number trong>oftrong> extratrong>celltrong>ular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets trong>oftrong> HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation trong>oftrong> the immune response. This gene is one trong>oftrong> the `framework` loci that is present on all haplotypes. Alternatively spliced transcript variants encoding multiple istrong>oftrong>orms have been observed for this gene. [provided by RefSeq, Jun 2011]
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killer trong>celltrong> immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3
Killer trong>celltrong> immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer trong>celltrong>s and subsets trong>oftrong> T trong>celltrong>s. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content trong>oftrong> the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number trong>oftrong> extratrong>celltrong>ular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets trong>oftrong> HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation trong>oftrong> the immune response. This gene is one trong>oftrong> the `framework` loci that is present on all haplotypes. [provided by RefSeq, Jul 2008]
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mediator trong>oftrong> trong>celltrong> motility 1
Involved in regulation trong>oftrong> microtubule-based process. Located in cytosol and nucleus. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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endothelial trong>celltrong> adhesion molecule
Enables trong>celltrong>-trong>celltrong> adhesion mediator activity. Involved in several processes, including bitrong>celltrong>ular tight junction assembly; trong>celltrong>-trong>celltrong> adhesion; and regulation trong>oftrong> actin filament polymerization. Located in trong>celltrong>-trong>celltrong> junction and plasma membrane. Part trong>oftrong> protein-containing complex. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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T trong>celltrong> receptor beta variable 24-1
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]
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B-trong>celltrong> scaffold protein with ankyrin repeats 1
The protein encoded by this gene is a B-trong>celltrong>-specific scaffold protein that functions in B-trong>celltrong> receptor-induced calcium mobilization from intratrong>celltrong>ular stores. This protein can also promote Lyn-mediated tyrosine phosphorylation trong>oftrong> inositol 1,4,5-trisphosphate receptors. Polymorphisms in this gene are associated with susceptibility to systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
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fuzzy planar trong>celltrong> polarity protein
This gene encodes a planar trong>celltrong> polarity protein that is involved in ciliogenesis and directional trong>celltrong> movement. Knockout studies in mice exhibit neural tube defects and defective cilia, and mutations in this gene are associated with neural tube defects in humans. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2012]
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carcinoembryonic antigen-related trong>celltrong> adhesion molecule 19
Predicted to be involved in heterophilic trong>celltrong>-trong>celltrong> adhesion via plasma membrane trong>celltrong> adhesion molecules. Predicted to be located in membrane. Predicted to be active in trong>celltrong> surface. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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carcinoembryonic antigen-related trong>celltrong> adhesion molecule 18
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carcinoembryonic antigen-related trong>celltrong> adhesion molecule 16
The protein encoded by this gene is a secreted glycoprotein that in mouse interacts with tectorial membrane proteins in the inner ear. The encoded adhesion protein is found in cochlear outer hair trong>celltrong>s and appears to be important for proper hearing over an extended frequency range. Defects in this gene likely are a cause trong>oftrong> non-syndromic autosomal dominant hearing loss. [provided by RefSeq, May 2012]
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trong>celltrong> division cycle 42 pseudogene 5
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vegetative trong>celltrong> wall protein gp1-like
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pre-B-trong>celltrong> leukemia homeobox interacting protein 1
The protein encoded by this gene interacts with the PBX1 homeodomain protein, inhibiting its transcriptional activation potential by preventing its binding to DNA. The encoded protein, which is primarily cytosolic but can shuttle to the nucleus, also can interact with estrogen receptors alpha and beta and promote the proliferation trong>oftrong> breast cancer, brain tumors, and lung cancer. Several transcript variants encoding different istrong>oftrong>orms have been found for this gene. More variants exist, but their full-length natures have yet to be determined. [provided by RefSeq, Dec 2015]
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trong>celltrong> division cycle 37 homolog (S. cerevisiae) pseudogene
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MCF.2 trong>celltrong> line derived transforming sequence
The oncogenic protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that exerts control over some members trong>oftrong> the Rho family trong>oftrong> small GTPases. Several transcript variants encoding different istrong>oftrong>orms have been found for this gene. These istrong>oftrong>orms exhibit different expression patterns and varying levels trong>oftrong> GEF activity.[provided by RefSeq, Jan 2010]
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trong>celltrong> adhesion associated, oncogene regulated
This gene encodes a trong>celltrong> surface receptor that is a member trong>oftrong> the immunoglobulin superfamily. The encoded protein contains three fibronectin type III domains and five immunoglobulin-like C2-type domains. This protein is a member trong>oftrong> a trong>celltrong>-surface receptor complex that mediates trong>celltrong>-trong>celltrong> interactions between muscle precursor trong>celltrong>s and positively regulates myogenesis. [provided by RefSeq, Aug 2011]
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pancreatic progenitor trong>celltrong> differentiation and proliferation factor
Predicted to be involved in trong>celltrong> differentiation. Predicted to act upstream trong>oftrong> or within TORC1 signaling and liver development. Located in mitochondrion. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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T trong>celltrong> receptor beta variable 10-2
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]
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T trong>celltrong> receptor beta variable 10-3
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]
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T trong>celltrong> receptor beta variable 10-1(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]
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killer trong>celltrong> immunoglobulin-like receptor 2DS3 allele 0020101
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trong>celltrong> division cycle 20 pseudogene 1
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LIM and senescent trong>celltrong> antigen-like domains 2
This gene encodes a member trong>oftrong> a small family trong>oftrong> focal adhesion proteins which interacts with ILK (integrin-linked kinase), a protein which effects protein-protein interactions with the extraceullar matrix. The encoded protein has five LIM domains, each domain forming two zinc fingers, which permit interactions which regulate trong>celltrong> shape and migration. A pseudogene trong>oftrong> this gene is located on chromosome 4. Multiple transcript variants encoding different istrong>oftrong>orms have been found for this gene. [provided by RefSeq, Nov 2011]
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LIM and senescent trong>celltrong> antigen-like domains 3
Predicted to enable metal ion binding activity. Predicted to be located in cytoplasm; focal adhesion; and plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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LIM and senescent trong>celltrong> antigen-like domains 1
The protein encoded by this gene is an adaptor protein which contains five LIM domains, or double zinc fingers. The protein is likely involved in integrin signaling through its LIM domain-mediated interaction with integrin-linked kinase, found in focal adhesion plaques. It is also thought to act as a bridge linking integrin-linked kinase to NCK adaptor protein 2, which is involved in growth factor receptor kinase signaling pathways. Its localization to the periphery trong>oftrong> spreading trong>celltrong>s also suggests that this protein may play a role in integrin-mediated trong>celltrong> adhesion or spreading. Several transcript variants encoding different istrong>oftrong>orms have been found for this gene. [provided by RefSeq, Jul 2010]
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T trong>celltrong> receptor gamma joining P2
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T trong>celltrong> receptor gamma joining P1
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vegetative trong>celltrong> wall protein gp1-like
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biorientation trong>oftrong> chromosomes in trong>celltrong> division 1
Enables protein phosphatase 2A binding activity and protein phosphatase inhibitor activity. Involved in mitotic sister chromatid biorientation; mitotic sister chromatid cohesion, centromeric; and protein localization to chromosome, centromeric region. Located in centrosome; spindle microtubule; and spindle pole. Part trong>oftrong> Set1C/COMPASS complex and outer kinetochore. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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T trong>celltrong> receptor beta variable 25-1
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]
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cerebral endothelial trong>celltrong> adhesion molecule
Enables identical protein binding activity. Acts upstream trong>oftrong> or within trong>celltrong> adhesion. Predicted to be located in plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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vascular trong>celltrong> adhesion molecule 1
This gene is a member trong>oftrong> the Ig superfamily and encodes a trong>celltrong> surface sialoglycoprotein expressed by cytokine-activated endothelium. This type I membrane protein mediates leukocyte-endothelial trong>celltrong> adhesion and signal transduction, and may play a role in the development trong>oftrong> artherosclerosis and rheumatoid arthritis. Three alternatively spliced transcripts encoding different istrong>oftrong>orms have been described for this gene. [provided by RefSeq, Dec 2010]
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lymphokine-activated killer trong>celltrong> ligand
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T trong>celltrong> receptor beta variable 17 (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]
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T trong>celltrong> receptor beta variable 16 (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]
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T trong>celltrong> receptor beta variable 15
Predicted to be involved in trong>celltrong> surface receptor signaling pathway. Predicted to be active in plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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T trong>celltrong> receptor beta variable 14
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]
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T trong>celltrong> receptor beta variable 13
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]
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T trong>celltrong> receptor beta variable 19
Predicted to be involved in trong>celltrong> surface receptor signaling pathway. Part trong>oftrong> alpha-beta T trong>celltrong> receptor complex. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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T trong>celltrong> receptor beta variable 18
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]
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nitric oxide synthase 3 (endothelial trong>celltrong>)
Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. Nitric oxide is synthesized from L-arginine by nitric oxide synthases. Variations in this gene are associated with susceptibility to coronary spasm. Alternative splicing and the use trong>oftrong> alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016]
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T trong>celltrong> receptor delta variable 1
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]
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T trong>celltrong> receptor delta variable 3
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]
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T trong>celltrong> receptor delta variable 2
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]
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upregulator trong>oftrong> trong>celltrong> proliferation
URG4 is upregulated in the presence trong>oftrong> hepatitis B virus (HBV)-encoded X antigen (HBxAg) and may contribute to the development trong>oftrong> hepatotrong>celltrong>ular carcinoma by promoting hepatotrong>celltrong>ular growth and survival (Tufan et al., 2002 [PubMed 12082552]).[supplied by OMIM, Mar 2008]
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small trong>celltrong> adhesion glycoprotein
Located in trong>celltrong> junction; nucleoplasm; and plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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speedy/RINGO trong>celltrong> cycle regulator family member E15, pseudogene
Predicted to enable protein kinase binding activity. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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pre T-trong>celltrong> antigen receptor alpha
The protein encoded by this gene is a single-pass type I membrane protein that is found in immmature but not mature T-trong>celltrong>s. Along with TCRB and CD3 complex, the encoded protein forms the pre-T-trong>celltrong> receptor complex, which regulates early T-trong>celltrong> development. Four transcript variants encoding different istrong>oftrong>orms have been found for this gene.[provided by RefSeq, Jul 2011]
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neural trong>celltrong> adhesion molecule 1
This gene encodes a trong>celltrong> adhesion protein which is a member trong>oftrong> the immunoglobulin superfamily. The encoded protein is involved in trong>celltrong>-to-trong>celltrong> interactions as well as trong>celltrong>-matrix interactions during development and differentiation. The encoded protein plays a role in the development trong>oftrong> the nervous system by regulating neurogenesis, neurite outgrowth, and trong>celltrong> migration. This protein is also involved in the expansion trong>oftrong> T lymphocytes, B lymphocytes and natural killer (NK) trong>celltrong>s which play an important role in immune surveillance. This protein plays a role in signal transduction by interacting with fibroblast growth factor receptors, N-cadherin and other components trong>oftrong> the extratrong>celltrong>ular matrix and by triggering signalling cascades involving FYN-focal adhesion kinase (FAK), mitogen-activated protein kinase (MAPK), and phosphatidylinositol 3-kinase (PI3K). One prominent istrong>oftrong>orm trong>oftrong> this gene, trong>celltrong> surface molecule CD56, plays a role in several myeloproliferative disorders such as acute myeloid leukemia and differential expression trong>oftrong> this gene is associated with differential disease progression. For example, increased expression trong>oftrong> CD56 is correlated with lower survival in acute myeloid leukemia patients whereas increased severity trong>oftrong> COVID-19 is correlated with decreased abundance trong>oftrong> CD56-expressing NK trong>celltrong>s in peripheral blood. Alternative splicing results in multiple transcript variants encoding distinct protein istrong>oftrong>orms. [provided by RefSeq, Aug 2020]
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neural trong>celltrong> adhesion molecule 2
The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein and may function in selective fasciculation and zone-to-zone projection trong>oftrong> the primary olfactory axons. [provided by RefSeq, Jul 2008]
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T trong>celltrong> receptor beta variable A/OR9-2 (pseudogene)
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T trong>celltrong> receptor alpha variable 36/delta variable 7
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]
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killer trong>celltrong> immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4
Killer trong>celltrong> immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer trong>celltrong>s and subsets trong>oftrong> T trong>celltrong>s. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content trong>oftrong> the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number trong>oftrong> extratrong>celltrong>ular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets trong>oftrong> HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation trong>oftrong> the immune response. [provided by RefSeq, Jul 2008]
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killer trong>celltrong> immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3
Killer trong>celltrong> immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer trong>celltrong>s and subsets trong>oftrong> T trong>celltrong>s. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content trong>oftrong> the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number trong>oftrong> extratrong>celltrong>ular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets trong>oftrong> HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation trong>oftrong> the immune response. [provided by RefSeq, Jul 2008]
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killer trong>celltrong> immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1
Killer trong>celltrong> immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer trong>celltrong>s and subsets trong>oftrong> T trong>celltrong>s. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content trong>oftrong> the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number trong>oftrong> extratrong>celltrong>ular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets trong>oftrong> HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation trong>oftrong> the immune response. [provided by RefSeq, Jul 2008]
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trong>celltrong> division cycle 27 pseudogene 7
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trong>celltrong> division cycle protein 27 homolog pseudogene
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trong>celltrong> division cycle 25C
This gene encodes a conserved protein that plays a key role in the regulation trong>oftrong> trong>celltrong> division. The encoded protein directs dephosphorylation trong>oftrong> cyclin B-bound CDC2 and triggers entry into mitosis. It also suppresses p53-induced growth arrest. Multiple alternatively spliced transcript variants trong>oftrong> this gene have been described. [provided by RefSeq, Dec 2015]
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trong>celltrong> division cycle 25B
CDC25B is a member trong>oftrong> the CDC25 family trong>oftrong> phosphatases. CDC25B activates the cyclin dependent kinase CDC2 by removing two phosphate groups and it is required for entry into mitosis. CDC25B shuttles between the nucleus and the cytoplasm due to nuclear localization and nuclear export signals. The protein is nuclear in the M and G1 phases trong>oftrong> the trong>celltrong> cycle and moves to the cytoplasm during S and G2. CDC25B has oncogenic properties, although its role in tumor formation has not been determined. Multiple transcript variants for this gene exist. [provided by RefSeq, Jul 2008]
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trong>celltrong> division cycle 25A
CDC25A is a member trong>oftrong> the CDC25 family trong>oftrong> phosphatases. CDC25A is required for progression from G1 to the S phase trong>oftrong> the trong>celltrong> cycle. It activates the cyclin-dependent kinase CDC2 by removing two phosphate groups. CDC25A is specifically degraded in response to DNA damage, which prevents trong>celltrong>s with chromosomal abnormalities from progressing through trong>celltrong> division. CDC25A is an oncogene, although its exact role in oncogenesis has not been demonstrated. Two transcript variants encoding different istrong>oftrong>orms have been found for this gene. [provided by RefSeq, Jul 2008]
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pancreatic beta trong>celltrong> glycoprotein 1
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T trong>celltrong> receptor alpha joining 49
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]
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T trong>celltrong> receptor alpha joining 48
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]
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T trong>celltrong> receptor alpha joining 41
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]
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T trong>celltrong> receptor alpha joining 40
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]
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T trong>celltrong> receptor alpha joining 43
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]
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T trong>celltrong> receptor alpha joining 42
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]
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T trong>celltrong> receptor alpha joining 45
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]
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T trong>celltrong> receptor alpha joining 44
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]
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T trong>celltrong> receptor alpha joining 47
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]
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T trong>celltrong> receptor alpha joining 46
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]
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trong>celltrong> division cycle 27 pseudogene 2
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trong>celltrong> division cycle 27 pseudogene 3
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trong>celltrong> division cycle 27 pseudogene 1
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trong>celltrong> division cycle 27 pseudogene 6
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trong>celltrong> division cycle 27 pseudogene 4
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trong>celltrong> division cycle 27 pseudogene 5
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trong>celltrong> division cycle 27 pseudogene 8
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trong>celltrong> division cycle 27 pseudogene 9
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speedy/RINGO trong>celltrong> cycle regulator family member E2B
Predicted to enable protein kinase binding activity. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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hepatic and glial trong>celltrong> adhesion molecule
The protein encoded by this gene is a single-pass type I membrane protein that localizes to the cytoplasmic side trong>oftrong> the trong>celltrong> membrane. The encoded protein acts as a homodimer and is involved in trong>celltrong> motility and trong>celltrong>-matrix interactions. The expression trong>oftrong> this gene is downregulated or undetectable in many cancer trong>celltrong> lines, so this may be a tumor suppressor gene. [provided by RefSeq, Jul 2011]
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T trong>celltrong> receptor gamma constant 1
Enables small molecule binding activity. Predicted to be involved in T trong>celltrong> receptor signaling pathway; adaptive immune response; and gamma-delta T trong>celltrong> activation. Predicted to act upstream trong>oftrong> or within homeostasis trong>oftrong> number trong>oftrong> trong>celltrong>s within a tissue. Predicted to be located in membrane. Predicted to be part trong>oftrong> gamma-delta T trong>celltrong> receptor complex. Predicted to be active in external side trong>oftrong> plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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T trong>celltrong> receptor gamma constant 2
Predicted to enable transmembrane signaling receptor activity. Predicted to be involved in T trong>celltrong> receptor signaling pathway and adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part trong>oftrong> gamma-delta T trong>celltrong> receptor complex. Predicted to be active in external side trong>oftrong> plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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trong>celltrong> division cycle 27
The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae protein Cdc27, and the gene product trong>oftrong> Schizosaccharomyces pombe nuc 2. This protein is a component trong>oftrong> the anaphase-promoting complex (APC), which is composed trong>oftrong> eight protein subunits and is highly conserved in eukaryotic trong>celltrong>s. This complex catalyzes the formation trong>oftrong> cyclin B-ubiquitin conjugate, which is responsible for the ubiquitin-mediated proteolysis trong>oftrong> B-type cyclins. The protein encoded by this gene and three other members trong>oftrong> the APC complex contain tetratricopeptide (TPR) repeats, which are important for protein-protein interactions. This protein was shown to interact with mitotic checkpoint proteins including Mad2, p55CDC and BUBR1, and it may thus be involved in controlling the timing trong>oftrong> mitosis. Alternative splicing trong>oftrong> this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2, 22 and Y. [provided by RefSeq, May 2014]
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trong>celltrong> division cycle 26
The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc26, a component trong>oftrong> trong>celltrong> cycle anaphase-promoting complex (APC). APC is composed trong>oftrong> a group trong>oftrong> highly conserved proteins and functions as a trong>celltrong> cycle-regulated ubiquitin-protein ligase. APC thus is responsible for the trong>celltrong> cycle regulated proteolysis trong>oftrong> various proteins. [provided by RefSeq, Jul 2008]
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trong>celltrong> division cycle 20
CDC20 appears to act as a regulatory protein interacting with several other proteins at multiple points in the trong>celltrong> cycle. It is required for two microtubule-dependent processes, nuclear movement prior to anaphase and chromosome separation. [provided by RefSeq, Jul 2008]
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speedy/RINGO trong>celltrong> cycle regulator family member E8, pseudogene
Enables acetylcholine receptor regulator activity. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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B-trong>celltrong> receptor-associated protein 31
This gene encodes a member trong>oftrong> the B-trong>celltrong> receptor associated protein 31 superfamily. The encoded protein is a multi-pass transmembrane protein trong>oftrong> the endoplasmic reticulum that is involved in the anterograde transport trong>oftrong> membrane proteins from the endoplasmic reticulum to the Golgi and in caspase 8-mediated apoptosis. Microdeletions in this gene are associated with contiguous ABCD1/DXS1375E deletion syndrome (CADDS), a neonatal disorder. Alternative splicing trong>oftrong> this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 16. [provided by RefSeq, Jan 2012]
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neural precursor trong>celltrong> expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
This gene encodes a member trong>oftrong> the Nedd4 family trong>oftrong> HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein mediates the ubiquitination trong>oftrong> multiple target substrates and plays a critical role in epithelial sodium transport by regulating the trong>celltrong> surface expression trong>oftrong> the epithelial sodium channel, ENaC. Single nucleotide polymorphisms in this gene may be associated with essential hypertension. Alternatively spliced transcript variants encoding multiple istrong>oftrong>orms have been observed for this gene. [provided by RefSeq, Mar 2012]
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Thy-1 trong>celltrong> surface antigen
This gene encodes a trong>celltrong> surface glycoprotein and member trong>oftrong> the immunoglobulin superfamily trong>oftrong> proteins. The encoded protein is involved in trong>celltrong> adhesion and trong>celltrong> communication in numerous trong>celltrong> types, but particularly in trong>celltrong>s trong>oftrong> the immune and nervous systems. The encoded protein is widely used as a marker for hematopoietic stem trong>celltrong>s. This gene may function as a tumor suppressor in nasopharyngeal carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
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par-3 family trong>celltrong> polarity regulator beta
Predicted to enable phosphatidylinositol binding activity. Predicted to be involved in several processes, including establishment trong>oftrong> trong>celltrong> polarity; establishment trong>oftrong> centrosome localization; and establishment or maintenance trong>oftrong> epithelial trong>celltrong> apical/basal polarity. Located in trong>celltrong> junction. Part trong>oftrong> protein-containing complex. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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Pseudohyperkalemia, familial, 2, due to red trong>celltrong> leak
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cytokine-dependent hematopoietic trong>celltrong> linker
MIST is a member trong>oftrong> the SLP76 family trong>oftrong> adaptors (see LCP2, MIM 601603; BLNK, MIM 604515). MIST plays a role in the regulation trong>oftrong> immunoreceptor signaling, including PLC-gamma (PLCG1; MIM 172420)-mediated B trong>celltrong> antigen receptor (BCR) signaling and FC-epsilon R1 (see FCER1A, MIM 147140)-mediated mast trong>celltrong> degranulation (Cao et al., 1999 [PubMed 10562326]; Goitsuka et al., 2000, 2001 [PubMed 10744659] [PubMed 11463797]).[supplied by OMIM, Mar 2008]
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Thyroid carcinoma, nonmedullary, with trong>celltrong> oxyphilia
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trong>celltrong> division cycle 14C
This gene represents a retrogene trong>oftrong> trong>celltrong> division cycle 14B (CDC14B), which is located on chromosome 9. The introns in the coding sequence have been processed out relative to the CDC14B locus, but there is an intact open reading frame that is missing only some sequence at the N-terminus, including the nuclear localiztion signal, relative to proteins encoded by the CDC14B gene. There is a difference in the subtrong>celltrong>ular localization trong>oftrong> the protein encoded by this gene, relative to its parental gene product. While the parental gene product displays microtubular localization, GFP chimeras trong>oftrong> the protein encoded by this gene localize to the endoplasmic reticulum, indicating a possible new functional role for this gene. [provided by RefSeq, Nov 2017]
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trong>celltrong> division cycle 14B
The protein encoded by this gene is a member trong>oftrong> the dual specificity protein tyrosine phosphatase family. This protein is highly similar to Saccharomyces cerevisiae Cdc14, a protein tyrosine phosphatase involved in the exit trong>oftrong> trong>celltrong> mitosis and initiation trong>oftrong> DNA replication, which suggests the role in trong>celltrong> cycle control. This protein has been shown to interact with and dephosphorylates tumor suppressor protein p53, and is thought to regulate the function trong>oftrong> p53. Alternative splice trong>oftrong> this gene results in 3 transcript variants encoding distinct istrong>oftrong>orms. [provided by RefSeq, Jul 2008]
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trong>celltrong> division cycle 14A
The protein encoded by this gene is a member trong>oftrong> the dual specificity protein tyrosine phosphatase family. It is highly similar to Saccharomyces cerevisiae Cdc14, a protein tyrosine phosphatase involved in the exit trong>oftrong> trong>celltrong> mitosis and initiation trong>oftrong> DNA replication, suggesting a role in trong>celltrong> cycle control. This protein has been shown to interact with, and dephosphorylate tumor suppressor protein p53, and is thought to regulate the function trong>oftrong> p53. Alternative splicing trong>oftrong> this gene results in several transcript variants encoding distinct istrong>oftrong>orms. [provided by RefSeq, Jul 2008]
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carcinoembryonic antigen-related trong>celltrong> adhesion molecule 20
Predicted to enable protein tyrosine kinase binding activity. Predicted to be involved in regulation trong>oftrong> immune system process and signal transduction. Predicted to be located in apical plasma membrane and microvillus membrane. Predicted to be active in trong>celltrong> surface and plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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carcinoembryonic antigen-related trong>celltrong> adhesion molecule 21
Predicted to be involved in T trong>celltrong> activation and immune response. Predicted to be located in membrane. Predicted to be active in external side trong>oftrong> plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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mucin 4, trong>celltrong> surface associated pseudogene
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islet trong>celltrong> autoantigen 1, 69kDa pseudogene
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dendritic trong>celltrong> protein pseudogene
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T trong>celltrong> receptor alpha variable 38-2/delta variable 8
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]
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islet trong>celltrong> autoantigen 1,69kDa-like
Predicted to enable protein domain specific binding activity. Predicted to be involved in regulation trong>oftrong> transport. Predicted to act upstream trong>oftrong> or within spermatid development. Predicted to be located in acrosomal vesicle. Predicted to be active in Golgi apparatus. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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trong>celltrong> cycle control protein 50B-like
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speedy/RINGO trong>celltrong> cycle regulator family member E7, pseudogene
Predicted to enable protein kinase binding activity. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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T trong>celltrong> receptor beta variable 6-4
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]
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T trong>celltrong> receptor beta variable 6-1
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]
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trong>celltrong> division cycle 23
The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae Cdc23, a protein essential for trong>celltrong> cycle progression through the G2/M transition. This protein is a component trong>oftrong> anaphase-promoting complex (APC), which is composed trong>oftrong> eight protein subunits and highly conserved in eukaryotic trong>celltrong>s. APC catalyzes the formation trong>oftrong> cyclin B-ubiquitin conjugate that is responsible for the ubiquitin-mediated proteolysis trong>oftrong> B-type cyclins. This protein and 3 other members trong>oftrong> the APC complex contain the TPR (tetratricopeptide repeat), a protein domain important for protein-protein interaction. [provided by RefSeq, Jul 2008]
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papillary renal trong>celltrong> carcinoma (translocation-associated)
This gene encodes a protein that may play a role in pre-mRNA splicing. Chromosomal translocations (X;1)(p11;q21) that result in fusion trong>oftrong> this gene to TFE3 (GeneID 7030) have been associated with papillary renal trong>celltrong> carcinoma. A PRCC-TFE3 fusion protein is expressed in affected carcinomas and is likely associated with altered gene transactivation. This fusion protein has also been associated with disruption trong>oftrong> the trong>celltrong> cycle.[provided by RefSeq, Aug 2010]
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RCD1 required for trong>celltrong> differentiation1 homolog (S. pombe)
This gene encodes a member trong>oftrong> the highly conserved RCD1 protein family. The encoded protein is a transcriptional ctrong>oftrong>actor and a core protein trong>oftrong> the CCR4-NOT complex. It may be involved in signal transduction as well as retinoic acid-regulated trong>celltrong> differentiation and development. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2012]
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neural precursor trong>celltrong> expressed, developmentally down-regulated 8 pseudogene
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biorientation trong>oftrong> chromosomes in trong>celltrong> division 1-like 2
Predicted to be involved in trong>celltrong> division. Predicted to be located in centrosome; cytoplasm; and kinetochore. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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biorientation trong>oftrong> chromosomes in trong>celltrong> division 1-like 1
Involved in DNA damage response and replication fork processing. Located in nucleoplasm. Part trong>oftrong> Set1C/COMPASS complex. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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killer trong>celltrong> lectin-like receptor subfamily A pseudogene 1
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proliferating trong>celltrong> nuclear antigen pseudogene 2
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transcription factor 7 (T-trong>celltrong> specific, HMG-box)
This gene encodes a member trong>oftrong> the T-trong>celltrong> factor/lymphoid enhancer-binding factor family trong>oftrong> high mobility group (HMG) box transcriptional activators. This gene is expressed predominantly in T-trong>celltrong>s and plays a critical role in natural killer trong>celltrong> and innate lymphoid trong>celltrong> development. The encoded protein forms a complex with beta-catenin and activates transcription through a Wnt/beta-catenin signaling pathway. Mice with a knockout trong>oftrong> this gene are viable and fertile, but display a block in T-lymphocyte differentiation. Alternative splicing results in multiple transcript variants. Naturally-occurring istrong>oftrong>orms lacking the N-terminal beta-catenin interaction domain may act as dominant negative regulators trong>oftrong> Wnt signaling. [provided by RefSeq, Oct 2016]
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trong>celltrong> division cycle 42 pseudogene
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trong>celltrong> division cycle 42 pseudogene
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proteoglycan 2, bone marrow (natural killer trong>celltrong> activator, eosinophil granule major basic protein)
The protein encoded by this gene is the predominant constituent trong>oftrong> the crystalline core trong>oftrong> the eosinophil granule. High levels trong>oftrong> the prtrong>oftrong>orm trong>oftrong> this protein are also present in placenta and pregnancy serum, where it exists as a complex with several other proteins including pregnancy-associated plasma protein A (PAPPA), angiotensinogen (AGT), and C3dg. This protein may be involved in antiparasitic defense mechanisms as a cytotoxin and helminthotoxin, and in immune hypersensitivity reactions. The encoded protein contains a peptide that displays potent antimicrobial activity against Gram-positive bacteria, Gram-negative bacteria, and fungi. It is directly implicated in epithelial trong>celltrong> damage, exfoliation, and bronchospasm in allergic diseases. Alternatively spliced transcript variants encoding different istrong>oftrong>orms have been found for this gene. [provided by RefSeq, Nov 2014]
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mucosal vascular addressin trong>celltrong> adhesion molecule 1
The protein encoded by this gene is an endothelial trong>celltrong> adhesion molecule that interacts preferentially with the leukocyte beta7 integrin LPAM-1 (alpha4beta7), L-selectin, and VLA-4 (alpha4beta1) on myeloid trong>celltrong>s to direct leukocytes into mucosal and inflamed tissues. It is a member trong>oftrong> the immunoglobulin family and is similar to ICAM1 and VCAM1. At least seven alternatively spliced transcripts encoding different protein istrong>oftrong>orms have been found for this gene, but the full-length nature trong>oftrong> some variants has not been determined. [provided by RefSeq, Jul 2008]
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intestinal trong>celltrong> (MAK-like) kinase
Eukaryotic protein kinases are enzymes that belong to a very extensive family trong>oftrong> proteins which share a conserved catalytic core common with both serine/threonine and tyrosine protein kinases. This gene encodes an intestinal serine/threonine kinase harboring a dual phosphorylation site found in mitogen-activating protein (MAP) kinases. The protein localizes to the intestinal crypt region and is thought to be important in intestinal epithelial trong>celltrong> proliferation and differentiation. Alternative splicing has been observed at this locus and two variants, encoding the same istrong>oftrong>orm, have been identified. [provided by RefSeq, Jul 2008]
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zyg-11 family member A, trong>celltrong> cycle regulator pseudogene 1
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neuroepithelial trong>celltrong> transforming 1
This gene is part trong>oftrong> the family trong>oftrong> Rho guanine nucleotide exchange factors. Members trong>oftrong> this family activate Rho proteins by catalyzing the exchange trong>oftrong> GDP for GTP. The protein encoded by this gene interacts with RhoA within the trong>celltrong> nucleus and may play a role in repairing DNA damage after ionizing radiation. Pseudogenes trong>oftrong> this gene are located on the long arms trong>oftrong> chromosomes 1, 7 and 18. Alternative splicing results in multiple transcript variants that encode different protein istrong>oftrong>orms. [provided by RefSeq, Jul 2012]
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T trong>celltrong> receptor beta variable 28
Predicted to enable 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]
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T trong>celltrong> receptor beta variable 26 (pseudogene)
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malignant T trong>celltrong> amplified sequence 2, pseudogene
This locus represents a retrogene copy trong>oftrong> MCTS1 (GeneID:28985) and contains an ORF similar to that parent gene. This locus is situated in a differentially methylated region (DMR) and transcripts in this region are imprinted. [provided by RefSeq, Nov 2021]
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Down syndrome trong>celltrong> adhesion molecule
This gene is a member trong>oftrong> the immunoglobulin superfamily trong>oftrong> trong>celltrong> adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple istrong>oftrong>orms have been observed for this gene. [provided by RefSeq, Oct 2012]
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B-trong>celltrong> receptor-associated protein 31 pseudogene 1
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mucin 4, trong>celltrong> surface associated pseudogene
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mucin 4, trong>celltrong> surface associated pseudogene
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mucin 4, trong>celltrong> surface associated pseudogene
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suppressor trong>oftrong> cancer trong>celltrong> invasion
This gene encodes a regulator trong>oftrong> trong>celltrong> migration. The encoded protein appears to function in the RhoA (ras homolog gene family, member A)-Dia1 (diaphanous homolog 1) signal transduction pathway. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
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sidekick trong>celltrong> adhesion molecule 1
The protein encoded by this gene is a member trong>oftrong> the immunoglobulin superfamily. The protein contains six immunoglobulin-like domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extratrong>celltrong>ular and intratrong>celltrong>ular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the trong>celltrong> surface. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
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sidekick trong>celltrong> adhesion molecule 2
The protein encoded by this gene is a member trong>oftrong> the immunoglobulin superfamily. The protein contains two immunoglobulin domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extratrong>celltrong>ular and intratrong>celltrong>ular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the trong>celltrong> surface. This protein, and a homologous mouse sequence, are very similar to the Drosophila sidekick gene product but the specific function trong>oftrong> this superfamily member is not yet known. Evidence for alternative splicing at this gene locus has been observed but the full-length nature trong>oftrong> additional variants has not yet been determined. [provided by RefSeq, Jul 2008]
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T trong>celltrong> receptor alpha variable 31 (pseudogene)
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]
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pre-B-trong>celltrong> leukemia homeobox 4
This gene encodes a member trong>oftrong> the pre-B trong>celltrong> leukemia transcription factor family. These proteins are homeobox proteins that play critical roles in embryonic development and trong>celltrong>ular differentiation both as Hox ctrong>oftrong>actors and through Hox-independent pathways. The encoded protein contains a homeobox DNA-binding domain, but specific functions trong>oftrong> the protein have not been determined. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2011]
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pre-B-trong>celltrong> leukemia homeobox 2
This gene encodes a ubiquitously expressed member trong>oftrong> the TALE/PBX homeobox family. It was identified by its similarity to a homeobox gene which is involved in t(1;19) translocation in acute pre-B-trong>celltrong> leukemias. This protein is a transcriptional activator which binds to the TLX1 promoter. The gene is located within the major histocompatibility complex (MHC) on chromosome 6. [provided by RefSeq, Jul 2008]
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pre-B-trong>celltrong> leukemia homeobox 3
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in several processes, including eye development; nervous system development; and regulation trong>oftrong> transcription by RNA polymerase II. Predicted to act upstream trong>oftrong> or within several processes, including adult locomotory behavior; dorsal spinal cord development; and regulation trong>oftrong> respiratory gaseous exchange by nervous system process. Predicted to be located in chromatin. Predicted to be part trong>oftrong> transcription regulator complex. Predicted to be active in nucleus. Biomarker trong>oftrong> esophagus squamous trong>celltrong> carcinoma. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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pre-B-trong>celltrong> leukemia homeobox 1
This gene encodes a nuclear protein that belongs to the PBX homeobox family trong>oftrong> transcriptional factors. Studies in mice suggest that this gene may be involved in the regulation trong>oftrong> osteogenesis and required for skeletal patterning and programming. A chromosomal translocation, t(1;19) involving this gene and TCF3/E2A gene, is associated with pre-B-trong>celltrong> acute lymphoblastic leukemia. The resulting fusion protein, in which the DNA binding domain trong>oftrong> E2A is replaced by the DNA binding domain trong>oftrong> this protein, transforms trong>celltrong>s by constitutively activating transcription trong>oftrong> genes regulated by the PBX protein family. Alternatively spliced transcript variants encoding different istrong>oftrong>orms have been found for this gene. [provided by RefSeq, Jun 2017]
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T trong>celltrong> receptor alpha joining 30
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]
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T trong>celltrong> receptor alpha joining 31
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]
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T trong>celltrong> receptor alpha joining 33
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]
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T trong>celltrong> receptor alpha joining 34
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]
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T trong>celltrong> receptor alpha joining 35 (non-functional)
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]
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T trong>celltrong> receptor alpha joining 36
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]
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T trong>celltrong> receptor alpha joining 37
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]
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T trong>celltrong> receptor alpha joining 38
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]
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T trong>celltrong> receptor alpha joining 39
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]
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killer trong>celltrong> immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1
Killer trong>celltrong> immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer trong>celltrong>s and subsets trong>oftrong> T trong>celltrong>s. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content trong>oftrong> the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number trong>oftrong> extratrong>celltrong>ular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets trong>oftrong> HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation trong>oftrong> the immune response. Alternatively spliced transcript variants encoding different istrong>oftrong>orms have been found for this gene. [provided by RefSeq, Aug 2013]
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Tax1 (human T-trong>celltrong> leukemia virus type I) binding protein 1
This gene encodes a HTLV-1 tax1 binding protein. The encoded protein interacts with TNFAIP3, and inhibits TNF-induced apoptosis by mediating the TNFAIP3 anti-apoptotic activity. Degradation trong>oftrong> this protein by caspase-3-like family proteins is associated with apoptosis induced by TNF. This protein may also have a role in the inhibition trong>oftrong> inflammatory signaling pathways. Alternatively spliced transcript variants encoding different istrong>oftrong>orms have been found for this gene.[provided by RefSeq, May 2011]
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Tax1 (human T-trong>celltrong> leukemia virus type I) binding protein 3
This gene encodes a small, highly conserved protein with a single PDZ domain. PDZ (PSD-95/Discs large/ZO-1 homologous) domains promote protein-protein interactions that affect trong>celltrong> signaling, adhesion, protein scaffolding, and receptor and ion transporter functions. The encoded protein interacts with a large number trong>oftrong> target proteins that play roles in signaling pathways; for example, it interacts with Rho A and glutaminase L and also acts as a negative regulator trong>oftrong> the Wnt/beta-catenin signaling pathway. This protein was first identified as binding to the T-trong>celltrong> leukaemia virus (HTLV1) Tax oncoprotein. Overexpression trong>oftrong> this gene has been implicated in altered cancer trong>celltrong> adhesion, migration and metastasis. The encoded protein also modulates the localization and density trong>oftrong> inwardly rectifying potassium channel 2.3 (Kir2.3). To date, this protein has been shown to play a role in trong>celltrong> proliferation, development, stress response, and polarization. Alternative splicing results in multiple transcript variants encoding distinct istrong>oftrong>orms. [provided by RefSeq, Apr 2017]
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trong>celltrong> division cycle 73
This gene encodes a tumor suppressor that is involved in transcriptional and post-transcriptional control pathways. The protein is a component trong>oftrong> the the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A and with a histone methyltransferase complex. This protein appears to facilitate the association trong>oftrong> 3' mRNA processing factors with actively-transcribed chromatin. Mutations in this gene have been linked to hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism, and parathyroid carcinoma. [provided by RefSeq, Jul 2009]
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T trong>celltrong> receptor beta variable 20/OR9-2 (non-functional)
Predicted to be involved in trong>celltrong> surface receptor signaling pathway. Predicted to be active in plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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angio-associated, migratory trong>celltrong> protein
The gene is a member trong>oftrong> the immunoglobulin superfamily. The encoded protein is associated with angiogenesis, with potential roles in endothelial tube formation and the migration trong>oftrong> endothelial trong>celltrong>s. It may also regulate smooth muscle trong>celltrong> migration via the RhoA pathway. The encoded protein can bind to heparin and may mediate heparin-sensitive trong>celltrong> adhesion. [provided by RefSeq, Oct 2014]
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trong>celltrong> division cycle 26 pseudogene 1
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T trong>celltrong> receptor alpha variable 2
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]
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T trong>celltrong> receptor alpha variable 3 (gene/pseudogene)
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]
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T trong>celltrong> receptor alpha variable 4
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]
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T trong>celltrong> receptor alpha 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]
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T trong>celltrong> receptor alpha variable 7
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]
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par-6 family trong>celltrong> polarity regulator gamma
Predicted to be involved in centrosome cycle; establishment or maintenance trong>oftrong> epithelial trong>celltrong> apical/basal polarity; and regulation trong>oftrong> trong>celltrong>ular localization. Predicted to be located in cytosol and plasma membrane. Predicted to be part trong>oftrong> PAR polarity complex. Predicted to be active in apical plasma membrane; trong>celltrong> cortex; and nucleus. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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par-6 family trong>celltrong> polarity regulator beta
This gene is a member trong>oftrong> the PAR6 family and encodes a protein with a PSD95/Discs-large/ZO1 (PDZ) domain, an OPR domain and a semi-Cdc42/Rac interactive binding (CRIB) domain. This cytoplasmic protein is involved in asymmetrical trong>celltrong> division and trong>celltrong> polarization processes as a member trong>oftrong> a multi-protein complex. [provided by RefSeq, Jul 2008]
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par-6 family trong>celltrong> polarity regulator alpha
This gene is a member trong>oftrong> the PAR6 family and encodes a protein with a PSD95/Discs-large/ZO1 (PDZ) domain and a semi-Cdc42/Rac interactive binding (CRIB) domain. This trong>celltrong> membrane protein is involved in asymmetrical trong>celltrong> division and trong>celltrong> polarization processes as a member trong>oftrong> a multi-protein complex. The protein also has a role in the epithelial-to-mesenchymal transition (EMT) that characterizes the invasive phenotype associated with metastatic carcinomas. Alternate transcriptional splice variants, encoding different istrong>oftrong>orms, have been characterized. [provided by RefSeq, Jul 2008]
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non-specific cytotoxic trong>celltrong> receptor protein 1 homolog (zebrafish)
Predicted to contribute to ubiquitin protein ligase activity. Involved in positive regulation trong>oftrong> trong>celltrong> population proliferation. Located in cytosol. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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mucin 20, trong>celltrong> surface associated
This gene encodes a member trong>oftrong> the mucin protein family. Mucins are high molecular weight glycoproteins secreted by many epithelial tissues to form an insoluble mucous barrier. The C-terminus trong>oftrong> this family member associates with the multifunctional docking site trong>oftrong> the MET proto-oncogene and suppresses activation trong>oftrong> some downstream MET signaling cascades. The protein features a mucin tandem repeat domain that varies between two and six copies in most individuals. Multiple variants encoding different istrong>oftrong>orms have been found for this gene. A related pseudogene, which is also located on chromosome 3, has been identified. [provided by RefSeq, Apr 2014]
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mucin 21, trong>celltrong> surface associated
This gene encodes a large membrane-bound glycoprotein which 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. These proteins also play a role in intratrong>celltrong>ular signaling. The encoded protein contains an N-terminal signal sequence, an extratrong>celltrong>ular mucin domain, a stem domain, a transmembrane domain, and a C-terminal cytoplasmic tail domain. The mucin domain contains O-glycosylation sites and is polymorphic with istrong>oftrong>orms containing a variable number trong>oftrong> nonidentical proline-, threonine-, and serine-rich tandem repeats trong>oftrong> 15 amino acids each. The aberrent expression trong>oftrong> this gene is associated with lung adenocarcinoma. [provided by RefSeq, May 2017]
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putative germ trong>celltrong>-specific gene 1-like protein 2
Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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inducible T-trong>celltrong> co-stimulator
The protein encoded by this gene belongs to the CD28 and CTLA-4 trong>celltrong>-surface receptor family. It forms homodimers and plays an important role in trong>celltrong>-trong>celltrong> signaling, immune responses, and regulation trong>oftrong> trong>celltrong> proliferation. [provided by RefSeq, Jul 2008]
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epithelial trong>celltrong> adhesion molecule pseudogene
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trong>celltrong> division cycle associated 7 pseudogene
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speedy/RINGO trong>celltrong> cycle regulator family member E11
Enables acetylcholine receptor regulator activity. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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T-trong>celltrong> tumor invasion and metastasis 1
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natural killer trong>celltrong> triggering receptor
This gene encodes a membrane-anchored protein with a hydrophobic amino terminal domain and a cyclophilin-like PPIase domain. It is present on the surface trong>oftrong> natural killer trong>celltrong>s and facilitates their binding to targets. Its expression is regulated by IL2 activation trong>oftrong> the trong>celltrong>s. [provided by RefSeq, Jul 2008]
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stromal trong>celltrong>-derived factor 2 pseudogene
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T trong>celltrong> receptor alpha variable 22
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]
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T trong>celltrong> receptor alpha variable 21
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]
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T trong>celltrong> receptor alpha variable 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]
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T trong>celltrong> receptor alpha variable 25
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]
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T trong>celltrong> receptor alpha variable 24
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]
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T trong>celltrong> receptor alpha variable 28 (pseudogene)
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]
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T trong>celltrong> receptor beta variable 25/OR9-2 (pseudogene)
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trong>celltrong> adhesion molecule L1-like
The protein encoded by this gene is a member trong>oftrong> the L1 gene family trong>oftrong> neural trong>celltrong> adhesion molecules. It is a neural recognition molecule that may be involved in signal transduction pathways. The deletion trong>oftrong> one copy trong>oftrong> this gene may be responsible for mental defects in patients with 3p- syndrome. This protein may also play a role in the growth trong>oftrong> certain cancers. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Nov 2011]
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Basal trong>celltrong> carcinoma, susceptibility to, 4
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T trong>celltrong> receptor delta diversity 3
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]
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T trong>celltrong> receptor delta diversity 2
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]
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T trong>celltrong> receptor delta diversity 1
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]
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trong>celltrong> division cycle protein 27 homolog pseudogene
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T trong>celltrong> receptor delta constant
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]
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prostate stem trong>celltrong> antigen
This gene encodes a glycosylphosphatidylinositol-anchored trong>celltrong> membrane glycoprotein. In addition to being highly expressed in the prostate it is also expressed in the bladder, placenta, colon, kidney, and stomach. This gene is up-regulated in a large proportion trong>oftrong> prostate cancers and is also detected in cancers trong>oftrong> the bladder and pancreas. This gene includes a polymorphism that results in an upstream start codon in some individuals; this polymorphism is thought to be associated with a risk for certain gastric and bladder cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
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T trong>celltrong> receptor gamma locus antisense RNA 1
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activated leukocyte trong>celltrong> adhesion molecule
This gene encodes activated leukocyte trong>celltrong> adhesion molecule (ALCAM), also known as CD166 (cluster trong>oftrong> differentiation 166), which is a member trong>oftrong> a subfamily trong>oftrong> immunoglobulin receptors with five immunoglobulin-like domains (VVC2C2C2) in the extratrong>celltrong>ular domain. This protein binds to T-trong>celltrong> differentiation antigene CD6, and is implicated in the processes trong>oftrong> trong>celltrong> adhesion and migration. Multiple alternatively spliced transcript variants encoding different istrong>oftrong>orms have been found. [provided by RefSeq, Aug 2011]
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hematopoietic trong>celltrong> signal transducer
This gene encodes a transmembrane signaling adaptor that contains a YxxM motif in its cytoplasmic domain. The encoded protein may form part trong>oftrong> the immune recognition receptor complex with the C-type lectin-like receptor NKG2D. As part trong>oftrong> this receptor complex, this protein may activate phosphatidylinositol 3-kinase dependent signaling pathways through its intracytoplasmic YxxM motif. This receptor complex may have a role in trong>celltrong> survival and proliferation by activation trong>oftrong> NK and T trong>celltrong> responses. Alternative splicing results in two transcript variants encoding different istrong>oftrong>orms. [provided by RefSeq, Jul 2008]
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stromal trong>celltrong> derived factor 4
This gene encodes a stromal trong>celltrong> derived factor that is a member trong>oftrong> the CREC protein family. The encoded protein contains six EF-hand motifs and calcium-binding motifs. This protein localizes to the Golgi lumen and may be involved in regulating calcium dependent trong>celltrong>ular activities. [provided by RefSeq, Sep 2011]
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stromal trong>celltrong>-derived factor 2
The protein encoded by this gene is believed to be a secretory protein. It has regions trong>oftrong> similarity to hydrophilic segments trong>oftrong> yeast mannosyltransferases. Its expression is ubiquitous and the gene appears to be relatively conserved among mammals. Alternate splicing results in both coding and non-coding variants. A pseudogene trong>oftrong> this gene is located on chromosome 15. [provided by RefSeq, Dec 2011]
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natural killer trong>celltrong> granule protein 7
Involved in defense response to protozoan. Located in cytolytic granule membrane and plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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T trong>celltrong> receptor beta variable 22/OR9-2 (pseudogene)
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germ trong>celltrong> associated 2 (haspin)
Enables ATP binding activity and histone H3T3 kinase activity. Involved in several processes, including mitotic sister chromatid cohesion; mitotic spindle assembly checkpoint signaling; and protein localization to chromosome, centromeric region. Located in centrosome; nucleoplasm; and spindle. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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germ trong>celltrong> associated 1
Predicted to enable RNA polymerase binding activity. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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T trong>celltrong> receptor gamma variable 6 (pseudogene)
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T trong>celltrong> receptor gamma variable 7 (pseudogene)
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T trong>celltrong> receptor gamma variable 4
Predicted to be involved in adaptive immune response and innate immune response. Predicted to be located in plasma membrane. Predicted to be part trong>oftrong> T trong>celltrong> receptor complex. Predicted to be active in external side trong>oftrong> plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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T trong>celltrong> receptor gamma variable 5
Predicted to be involved in adaptive immune response and innate immune response. Predicted to be located in plasma membrane. Predicted to be part trong>oftrong> T trong>celltrong> receptor complex. Predicted to be active in external side trong>oftrong> plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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T trong>celltrong> receptor gamma variable 2
Predicted to be involved in adaptive immune response and innate immune response. Predicted to be located in plasma membrane. Predicted to be part trong>oftrong> T trong>celltrong> receptor complex. Predicted to be active in external side trong>oftrong> plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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T trong>celltrong> receptor gamma variable 3
Predicted to enable MHC protein binding activity and peptide antigen binding activity. Predicted to be involved in immune response. Predicted to be located in plasma membrane. Predicted to be part trong>oftrong> T trong>celltrong> receptor complex. Predicted to be active in external side trong>oftrong> plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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T trong>celltrong> receptor gamma variable 1 (non-functional)
Predicted to be involved in adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part trong>oftrong> T trong>celltrong> receptor complex. Predicted to be active in external side trong>oftrong> plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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T trong>celltrong> receptor gamma variable 8
Predicted to be involved in adaptive immune response and innate immune response. Predicted to be located in plasma membrane. Predicted to be part trong>oftrong> T trong>celltrong> receptor complex. Predicted to be active in external side trong>oftrong> plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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T trong>celltrong> receptor gamma variable 9
Predicted to enable MHC protein binding activity and peptide antigen binding activity. Predicted to be involved in adaptive immune response and innate immune response. Predicted to be located in plasma membrane. Predicted to be part trong>oftrong> T trong>celltrong> receptor complex. Predicted to be active in external side trong>oftrong> plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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T trong>celltrong> receptor gamma variable B (pseudogene)
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T trong>celltrong> receptor gamma variable A (pseudogene)
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T trong>celltrong> receptor associated transmembrane adaptor 1
Predicted to enable transmembrane receptor protein tyrosine kinase adaptor activity. Acts upstream trong>oftrong> or within negative regulation trong>oftrong> receptor recycling; negative regulation trong>oftrong> transport; and positive regulation trong>oftrong> signal transduction. Located in centriolar satellite; mitotic spindle; and plasma membrane. Part trong>oftrong> T trong>celltrong> receptor complex. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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killer trong>celltrong> immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B
Killer trong>celltrong> immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer trong>celltrong>s and subsets trong>oftrong> T trong>celltrong>s. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content trong>oftrong> the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number trong>oftrong> extratrong>celltrong>ular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets trong>oftrong> HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation trong>oftrong> the immune response. [provided by RefSeq, Jul 2008]
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killer trong>celltrong> immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5A
Killer trong>celltrong> immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer trong>celltrong>s and subsets trong>oftrong> T trong>celltrong>s. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content trong>oftrong> the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number trong>oftrong> extratrong>celltrong>ular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets trong>oftrong> HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation trong>oftrong> the immune response. [provided by RefSeq, Jul 2008]
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T trong>celltrong> receptor alpha joining 58 (non-functional)
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]
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T trong>celltrong> receptor alpha joining 56
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]
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T trong>celltrong> receptor alpha joining 57
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]
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T trong>celltrong> receptor alpha joining 54
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]
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platelet/endothelial trong>celltrong> adhesion molecule 1
The protein encoded by this gene is found on the surface trong>oftrong> platelets, monocytes, neutrophils, and some types trong>oftrong> T-trong>celltrong>s, and makes up a large portion trong>oftrong> endothelial trong>celltrong> intertrong>celltrong>ular junctions. The encoded protein is a member trong>oftrong> the immunoglobulin superfamily and is likely involved in leukocyte migration, angiogenesis, and integrin activation. [provided by RefSeq, May 2010]
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T-trong>celltrong> acute lymphocytic leukemia 1
Enables several functions, including E-box binding activity; RNA polymerase II-specific DNA-binding transcription factor binding activity; and histone deacetylase binding activity. Involved in several processes, including myeloid trong>celltrong> differentiation; positive regulation trong>oftrong> trong>celltrong>ular component organization; and positive regulation trong>oftrong> erythrocyte differentiation. Located in chromatin and nucleoplasm. Part trong>oftrong> transcription regulator complex. Implicated in acute lymphoblastic leukemia. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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T-trong>celltrong> acute lymphocytic leukemia 2
This intronless gene encodes a helix-loop-helix protein. Translocations between this gene on chromosome 9 and the T-trong>celltrong> receptor beta-chain locus on chromosome 7 have been associated with activation trong>oftrong> the T-trong>celltrong> acute lymphocytic leukemia 2 gene and T-trong>celltrong> acute lymphoblastic leukemia. [provided by RefSeq, Mar 2009]
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T trong>celltrong> receptor alpha variable 26-1
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]
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T trong>celltrong> receptor alpha variable 26-2
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]
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T trong>celltrong> receptor beta variable 22-1 (pseudogene)
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T trong>celltrong> receptor alpha variable 9-1
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]
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T trong>celltrong> receptor alpha variable 9-2
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]
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trong>celltrong> division cycle associated 4 pseudogene 2
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pre-B-trong>celltrong> leukemia homeobox 2 pseudogene 1
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T-trong>celltrong> leukemia homeobox 1
This gene encodes a nuclear transcription factor that belongs to the NK-linked or NK-like (NKL) subfamily trong>oftrong> homeobox genes. The encoded protein is required for normal development trong>oftrong> the spleen during embryogenesis. This protein is also involved in specification trong>oftrong> neuronal trong>celltrong> fates. Ectopic expression trong>oftrong> this gene due to chromosomal translocations is associated with certain T-trong>celltrong> acute lymphoblastic leukemias. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]
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T-trong>celltrong> leukemia homeobox 2
This gene is a member trong>oftrong> an orphan homeobox-containing transcription factor family. Studies trong>oftrong> the mouse ortholog have shown that the encoded protein is crucial for the development trong>oftrong> the enteric nervous system; in humans, loss-trong>oftrong>-function may play a role in tumorigenesis trong>oftrong> gastrointestinal stromal tumors. [provided by RefSeq, May 2010]
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T-trong>celltrong> leukemia homeobox 3
The protein encoded by this gene is an orphan homeobox protein that encodes a DNA-binding nuclear transcription factor. A translocation [t(5;14)(q35;q32)] involving this gene is associated with T-trong>celltrong> acute lymphoblastic leukemia (T-ALL) in children and young adults. [provided by RefSeq, Nov 2015]
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trong>celltrong> division cycle 37 pseudogene 1
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trong>celltrong> division cycle 37 pseudogene 2
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B-trong>celltrong> CLL/lymphoma 7C
This gene is identified by the similarity trong>oftrong> its product to the N-terminal region trong>oftrong> BCL7A protein. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma trong>celltrong> line. The function trong>oftrong> this gene has not yet been determined. Two transcript variants encoding different istrong>oftrong>orms have been found for this gene. [provided by RefSeq, Nov 2013]
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B-trong>celltrong> CLL/lymphoma 7B
This gene encodes a member trong>oftrong> the BCL7 family including BCL7A, BCL7B and BCL7C proteins. This member is BCL7B, which contains a region that is highly similar to the N-terminal segment trong>oftrong> BCL7A or BCL7C proteins. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma trong>celltrong> line. This gene is located at a chromosomal region commonly deleted in Williams syndrome. This gene is highly conserved from C. elegans to human. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2010]
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B-trong>celltrong> CLL/lymphoma 7A
This gene is directly involved, with Myc and IgH, in a three-way gene translocation in a Burkitt lymphoma trong>celltrong> line. As a result trong>oftrong> the gene translocation, the N-terminal region trong>oftrong> the gene product is disrupted, which is thought to be related to the pathogenesis trong>oftrong> a subset trong>oftrong> high-grade B trong>celltrong> non-Hodgkin lymphoma. The N-terminal segment involved in the translocation includes the region that shares a strong sequence similarity with those trong>oftrong> BCL7B and BCL7C. Two transcript variants encoding different istrong>oftrong>orms have been found for this gene. [provided by RefSeq, Jul 2008]
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B-trong>celltrong> translocation gene 1 pseudogene 1
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myelinating Schwann trong>celltrong> element
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glial trong>celltrong> derived neurotrophic factor
This gene encodes a secreted ligand trong>oftrong> the TGF-beta (transforming growth factor-beta) superfamily trong>oftrong> proteins. Ligands trong>oftrong> this family bind various TGF-beta receptors leading to recruitment and activation trong>oftrong> SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit trong>oftrong> the disulfide-linked homodimer. The recombinant form trong>oftrong> this protein, a highly conserved neurotrophic factor, was shown to promote the survival and differentiation trong>oftrong> dopaminergic neurons in culture, and was able to prevent apoptosis trong>oftrong> motor neurons induced by axotomy. This protein is a ligand for the product trong>oftrong> the RET (rearranged during transfection) protooncogene. Mutations in this gene may be associated with Hirschsprung disease and Tourette syndrome. This gene encodes multiple protein istrong>oftrong>orms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016]
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trong>celltrong> division cycle 45
The protein encoded by this gene was identified by its strong similarity with Saccharomyces cerevisiae Cdc45, an essential protein required to the initiation trong>oftrong> DNA replication. Cdc45 is a member trong>oftrong> the highly conserved multiprotein complex including Cdc6/Cdc18, the minichromosome maintenance proteins (MCMs) and DNA polymerase, which is important for early steps trong>oftrong> DNA replication in eukaryotes. This protein has been shown to interact with MCM7 and DNA polymerase alpha. Studies trong>oftrong> the similar gene in Xenopus suggested that this protein play a pivotal role in the loading trong>oftrong> DNA polymerase alpha onto chromatin. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
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trong>celltrong> division cycle 40
Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp17 protein, which functions in two different trong>celltrong>ular processes: pre-mRNA splicing and trong>celltrong> cycle progression. It suggests that this protein may play a role in trong>celltrong> cycle progression. [provided by RefSeq, Jul 2008]
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trong>celltrong> division cycle 42
The protein encoded by this gene is a small GTPase trong>oftrong> the Rho-subfamily, which regulates signaling pathways that control diverse trong>celltrong>ular functions including trong>celltrong> morphology, migration, endocytosis and trong>celltrong> cycle progression. This protein is highly similar to Saccharomyces cerevisiae Cdc 42, and is able to complement the yeast cdc42-1 mutant. The product trong>oftrong> oncogene Dbl was reported to specifically catalyze the dissociation trong>oftrong> GDP from this protein. This protein could regulate actin polymerization through its direct binding to Neural Wiskott-Aldrich syndrome protein (N-WASP), which subsequently activates Arp2/3 complex. Alternative splicing trong>oftrong> this gene results in multiple transcript variants. Pseudogenes trong>oftrong> this gene have been identified on chromosomes 3, 4, 5, 7, 8 and 20. [provided by RefSeq, Apr 2013]
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T-trong>celltrong> leukemia/lymphoma 1B
Enables protein kinase binding activity and protein serine/threonine kinase activator activity. Involved in intratrong>celltrong>ular signal transduction. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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T-trong>celltrong> leukemia/lymphoma 1A
Overexpression trong>oftrong> the TCL1 gene in humans has been implicated in the development trong>oftrong> mature T trong>celltrong> leukemia, in which chromosomal rearrangements bring the TCL1 gene in close proximity to the T-trong>celltrong> antigen receptor (TCR)-alpha (MIM 186880) or TCR-beta (MIM 186930) regulatory elements (summarized by Virgilio et al., 1998 [PubMed 9520462]). In normal T trong>celltrong>s TCL1 is expressed in CD4-/CD8- trong>celltrong>s, but not in trong>celltrong>s at later stages trong>oftrong> differentiation. TCL1 functions as a coactivator trong>oftrong> the trong>celltrong> survival kinase AKT (MIM 164730) (Laine et al., 2000 [PubMed 10983986]).[supplied by OMIM, Jul 2010]
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speedy/RINGO trong>celltrong> cycle regulator family member E13, pseudogene
Enables acetylcholine receptor regulator activity. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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T trong>celltrong> receptor beta variable 11-2
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]
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killer trong>celltrong> immunoglobulin-like receptor 2DS1
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trong>celltrong> division cycle associated 7 pseudogene
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speedy/RINGO trong>celltrong> cycle regulator family member E21, pseudogene
Predicted to enable protein kinase binding activity. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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engulfment and trong>celltrong> motility 2 pseudogene 1
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cutaneous T-trong>celltrong> lymphoma-associated antigen 1 pseudogene
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LIM and senescent trong>celltrong> antigen-like domains 2 pseudogene
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inturned planar trong>celltrong> polarity protein
Predicted to enable phosphatidylinositol binding activity. Involved in embryonic digit morphogenesis; rotrong>oftrong> trong>oftrong> mouth development; and tongue morphogenesis. Located in ciliary basal body and motile cilium. Implicated in asphyxiating thoracic dystrophy and ortrong>oftrong>aciodigital syndrome XVII. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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trong>celltrong> adhesion associated, oncogene regulated pseudogene
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T-trong>celltrong> lymphoma invasion and metastasis 1
This gene encodes a RAC1-specific guanine nucleotide exchange factor (GEF). GEFs mediate the exchange trong>oftrong> guanosine diphosphate (GDP) for guanosine triphosphate (GTP). The binding trong>oftrong> GTP induces a conformational change in RAC1 that allows downstream effectors to bind and transduce a signal. This gene thus regulates RAC1 signaling pathways that affect trong>celltrong> shape, migration, adhesion, growth, survival, and polarity, as well as influencing actin cytoskeletal formation, endocytosis, and membrane trafficking. This gene thus plays an important role in trong>celltrong> invasion, metastasis, and carcinogenesis. In addition to RAC1, the encoded protein activates additional Rho-like GTPases such as CDC42, RAC2, RAC3 and RHOA. This gene encodes multiple protein istrong>oftrong>orms that experience a diverse array trong>oftrong> intramolecular, protein-protein, and phosphorylation interactions as well as phosphoinositide binding. Both the longer and shorter istrong>oftrong>orms have C-terminal Dbl homology (DH) and pleckstrin homology (PH) domains while only the longer istrong>oftrong>orms trong>oftrong> this gene have the N-terminal myristoylation site and the downstream N-terminal PH domain, ras-binding domain (RBD), and PSD-95/DlgA/ZO-1 (PDZ) domain. [provided by RefSeq, Jul 2017]
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T-trong>celltrong> lymphoma invasion and metastasis 2
This gene encodes a guanine nucleotide exchange factor. A highly similar mouse protein specifically activates ras-related C3 botulinum substrate 1, converting this Rho-like guanosine triphosphatase (GTPase) from a guanosine diphosphate-bound inactive state to a guanosine triphosphate-bound active state. The encoded protein may play a role in neural trong>celltrong> development. Alternatively spliced transcript variants encoding different istrong>oftrong>orms have been described. [provided by RefSeq, Jul 2008]
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T trong>celltrong> receptor beta variable 4-2
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]
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T trong>celltrong> receptor beta variable 4-3
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]
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T trong>celltrong> receptor beta variable 4-1
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]
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squamous trong>celltrong> carcinoma antigen recognized by T trong>celltrong>s
This gene encodes two proteins, the SART1(800) protein expressed in the nucleus trong>oftrong> the majority trong>oftrong> proliferating trong>celltrong>s, and the SART1(259) protein expressed in the cytosol trong>oftrong> epithelial cancers. The SART1(259) protein is translated by the mechanism trong>oftrong> -1 frameshifting during posttranscriptional regulation; its full-length sequence is not published yet. The two encoded proteins are thought to be involved in the regulation trong>oftrong> proliferation. Both proteins have tumor-rejection antigens. The SART1(259) protein possesses tumor epitopes capable trong>oftrong> inducing HLA-A2402-restricted cytotoxic T lymphocytes in cancer patients. This SART1(259) antigen may be useful in specific immunotherapy for cancer patients and may serve as a paradigmatic tool for the diagnosis and treatment trong>oftrong> patients with atopy. The SART1(259) protein is found to be essential for the recruitment trong>oftrong> the tri-snRNP to the pre-spliceosome in the spliceosome assembly pathway. [provided by RefSeq, Jul 2008]
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T trong>celltrong> receptor alpha joining 61 (non-functional)
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]
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T trong>celltrong> receptor alpha joining 60 (pseudogene)
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]
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CDC14 trong>celltrong> division cycle 14 C-like
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T trong>celltrong> receptor alpha variable 18
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]
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T trong>celltrong> receptor alpha variable 19
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]
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T trong>celltrong> receptor alpha variable 10
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]
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T trong>celltrong> receptor alpha variable 11 (pseudogene)
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]
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T trong>celltrong> receptor alpha variable 16
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]
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T trong>celltrong> receptor alpha variable 17
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]
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T trong>celltrong> receptor alpha variable 15 (pseudogene)
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]
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speedy/RINGO trong>celltrong> cycle regulator family member E4
Predicted to enable protein kinase binding activity. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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T trong>celltrong> receptor alpha variable 8-1
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]
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T trong>celltrong> receptor alpha variable 8-3
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]
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T trong>celltrong> receptor alpha variable 8-2
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]
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T trong>celltrong> receptor alpha variable 8-5 (pseudogene)
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]
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T trong>celltrong> receptor alpha variable 8-4
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]
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T trong>celltrong> receptor alpha variable 8-7 (non-functional)
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]
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T trong>celltrong> receptor alpha variable 8-6
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]
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T trong>celltrong> receptor beta variable 5-7 (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]
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T trong>celltrong> receptor beta variable 5-6
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]
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T trong>celltrong> receptor beta variable 5-5
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]
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T trong>celltrong> receptor beta variable 5-4
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]
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T trong>celltrong> receptor beta variable 5-3 (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]
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T trong>celltrong> receptor beta variable 5-2 (pseudogene)
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T trong>celltrong> receptor beta variable 5-1
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]
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T trong>celltrong> receptor beta variable 5-8
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]
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B-trong>celltrong> CLL/lymphoma 9 pseudogene 1
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transcription factor 7-like 1 (T-trong>celltrong> specific, HMG-box)
This gene encodes a member trong>oftrong> the T trong>celltrong> factor/lymphoid enhancer factor family trong>oftrong> transcription factors. These transcription factors are activated by beta catenin, mediate the Wnt signaling pathway and are antagonized by the transforming growth factor beta signaling pathway. The encoded protein contains a high mobility group-box DNA binding domain and participates in the regulation trong>oftrong> trong>celltrong> cycle genes and trong>celltrong>ular senescence. [provided by RefSeq, Nov 2010]
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transcription factor 7-like 2 (T-trong>celltrong> specific, HMG-box)
This gene encodes a high mobility group (HMG) box-containing transcription factor that plays a key role in the Wnt signaling pathway. The protein has been implicated in blood glucose homeostasis. Genetic variants trong>oftrong> this gene are associated with increased risk trong>oftrong> type 2 diabetes. Several transcript variants encoding multiple different istrong>oftrong>orms have been found for this gene.[provided by RefSeq, Oct 2010]
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T trong>celltrong> receptor alpha constant
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]
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trong>celltrong> division cycle 123
Enables ATP binding activity and magnesium ion binding activity. Involved in eukaryotic translation initiation factor 2 complex assembly. Located in cytoplasm. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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killer trong>celltrong> lectin-like receptor subfamily D, member 1
Natural killer (NK) trong>celltrong>s are a distinct lineage trong>oftrong> lymphocytes that mediate cytotoxic activity and secrete cytokines upon immune stimulation. Several genes trong>oftrong> the C-type lectin superfamily, including members trong>oftrong> the NKG2 family, are expressed by NK trong>celltrong>s and may be involved in the regulation trong>oftrong> NK trong>celltrong> function. KLRD1 (CD94) is an antigen preferentially expressed on NK trong>celltrong>s and is classified as a type II membrane protein because it has an external C terminus. Several transcript variants encoding different istrong>oftrong>orms have been found for this gene. [provided by RefSeq, May 2017]
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engulfment and trong>celltrong> motility 1
This gene encodes a member trong>oftrong> the engulfment and trong>celltrong> motility protein family. These proteins interact with dedicator trong>oftrong> cytokinesis proteins to promote phagocytosis and trong>celltrong> migration. Increased expression trong>oftrong> this gene and dedicator trong>oftrong> cytokinesis 1 may promote glioma trong>celltrong> invasion, and single nucleotide polymorphisms in this gene may be associated with diabetic nephropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
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engulfment and trong>celltrong> motility 2
The protein encoded by this gene interacts with the dedicator trong>oftrong> cyto-kinesis 1 protein. Similarity to a C. elegans protein suggests that this protein may function in phagocytosis trong>oftrong> apoptotic trong>celltrong>s and in trong>celltrong> migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
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engulfment and trong>celltrong> motility 3
The protein encoded by this gene is similar to a C. elegans protein that functions in phagocytosis trong>oftrong> apoptotic trong>celltrong>s and in trong>celltrong> migration. Other members trong>oftrong> this small family trong>oftrong> engulfment and trong>celltrong> motility (ELMO) proteins have been shown to interact with the dedicator trong>oftrong> cyto-kinesis 1 protein to promote phagocytosis and effect trong>celltrong> shape changes. [provided by RefSeq, Jul 2008]
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trong>celltrong> cycle progression 1
Involved in positive regulation trong>oftrong> trong>celltrong> cycle and positive regulation trong>oftrong> trong>celltrong> population proliferation. Predicted to be active in membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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mast trong>celltrong> immunoglobulin-like receptor 1
Predicted to enable transmembrane signaling receptor activity. Predicted to be involved in trong>celltrong> surface receptor signaling pathway; mast trong>celltrong> degranulation; and negative regulation trong>oftrong> mast trong>celltrong> activation. Predicted to be located in plasma membrane. Predicted to be active in external side trong>oftrong> plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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endothelial trong>celltrong> surface expressed chemotaxis and apoptosis regulator
The protein encoded by this gene is primarily found in endothelial trong>celltrong>s and blood vessels, where it is involved in trong>celltrong> shape changes and EGF-induced trong>celltrong> migration. It can enhance the activation trong>oftrong> vascular endothelial growth factor receptor-2/kinase insert domain receptor and also promote the proteolysis trong>oftrong> internalized kinase insert domain receptor. This gene may play a role in angiogenesis-related diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
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dendritic trong>celltrong>-associated nuclear protein
This intronless gene is specifically expressed in dendritic trong>celltrong>s (DCs), which are potent antigen-presenting trong>celltrong>s involved in activating naive T trong>celltrong>s to initiate antigen-specific immune response. The encoded protein is localized mainly in the perinucleus. One trong>oftrong> the alleles (A/T) trong>oftrong> this gene, that causes premature translation termination at aa 117, has been associated with an increased prevalence trong>oftrong> major depression in humans. [provided by RefSeq, Jul 2008]
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mucin 1, trong>celltrong> surface associated
This gene encodes a membrane-bound protein 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. These proteins also play a role in intratrong>celltrong>ular signaling. This protein is expressed on the apical surface trong>oftrong> epithelial trong>celltrong>s that line the mucosal surfaces trong>oftrong> many different tissues including lung, breast stomach and pancreas. This protein is proteolytically cleaved into alpha and beta subunits that form a heterodimeric complex. The N-terminal alpha subunit functions in trong>celltrong>-adhesion and the C-terminal beta subunit is involved in trong>celltrong> signaling. Overexpression, aberrant intratrong>celltrong>ular localization, and changes in glycosylation trong>oftrong> this protein have been associated with carcinomas. This gene is known to contain a highly polymorphic variable number tandem repeats (VNTR) domain. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]
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trong>celltrong> division cycle associated 4 pseudogene 4
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trong>celltrong> division cycle associated 4 pseudogene 1
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trong>celltrong> division cycle associated 4 pseudogene 3
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speedy/RINGO trong>celltrong> cycle regulator family member E22, pseudogene
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trong>celltrong> division cycle 27 homolog pseudogene
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T trong>celltrong> receptor beta diversity 2
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killer trong>celltrong> lectin-like receptor subfamily K, member 1
Natural killer (NK) trong>celltrong>s are lymphocytes that can mediate lysis trong>oftrong> certain tumor trong>celltrong>s and virus-infected trong>celltrong>s without previous activation. They can also regulate specific humoral and trong>celltrong>-mediated immunity. NK trong>celltrong>s preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation trong>oftrong> NK trong>celltrong> function. The NKG2 gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed in NK trong>celltrong>s. This gene encodes a member trong>oftrong> the NKG2 family. The encoded transmembrane protein is characterized by a type II membrane orientation (has an extratrong>celltrong>ular C terminus) and the presence trong>oftrong> a C-type lectin domain. It binds to a diverse family trong>oftrong> ligands that include MHC class I chain-related A and B proteins and UL-16 binding proteins, where ligand-receptor interactions can result in the activation trong>oftrong> NK and T trong>celltrong>s. The surface expression trong>oftrong> these ligands is important for the recognition trong>oftrong> stressed trong>celltrong>s by the immune system, and thus this protein and its ligands are therapeutic targets for the treatment trong>oftrong> immune diseases and cancers. Read-through transcription exists between this gene and the upstream KLRC4 (killer trong>celltrong> lectin-like receptor subfamily C, member 4) family member in the same cluster. [provided by RefSeq, Dec 2010]
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Basal trong>celltrong> carcinoma, susceptibility to, 1
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Basal trong>celltrong> carcinoma, susceptibility to, 2
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Basal trong>celltrong> carcinoma, susceptibility to, 3
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meteorin, glial trong>celltrong> differentiation regulator-like
Predicted to enable hormone activity. Predicted to be involved in several processes, including brown fat trong>celltrong> differentiation; positive regulation trong>oftrong> brown fat trong>celltrong> differentiation; and response to muscle activity. Located in extratrong>celltrong>ular exosome. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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VANGL planar trong>celltrong> polarity protein 2
The protein encoded by this gene is a membrane protein involved in the regulation trong>oftrong> planar trong>celltrong> polarity, especially in the stereociliary bundles trong>oftrong> the cochlea. The encoded protein transmits directional signals to individual trong>celltrong>s or groups trong>oftrong> trong>celltrong>s in epithelial sheets. This protein is also involved in the development trong>oftrong> the neural plate. [provided by RefSeq, Sep 2011]
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T trong>celltrong> receptor beta variable 8-2 (pseudogene)
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T trong>celltrong> receptor beta variable 8-1 (pseudogene)
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T trong>celltrong> receptor beta variable 26/OR9-2 (pseudogene)
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T trong>celltrong> receptor alpha locus
Enables signaling receptor activity. Contributes to peptide antigen binding activity. Involved in T trong>celltrong> activation involved in immune response; T trong>celltrong> mediated cytotoxicity directed against tumor trong>celltrong> target; and detection trong>oftrong> tumor trong>celltrong>. Located in trong>celltrong> surface. Part trong>oftrong> alpha-beta T trong>celltrong> receptor complex. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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T trong>celltrong> receptor beta locus
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 beta locus. The beta locus includes V (variable), J (joining), diversity (D), and C (constant) segments. During T trong>celltrong> development, the beta 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 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. Several V segments and one J segment trong>oftrong> the beta locus are known to be incapable trong>oftrong> encoding a protein and are considered pseudogenes. The beta locus also includes eight trypsinogen genes, three trong>oftrong> which encode functional proteins and five trong>oftrong> which are pseudogenes. Chromosomal abnormalities involving the T-trong>celltrong> receptor beta locus have been associated with T-trong>celltrong> lymphomas. [provided by RefSeq, Jul 2008]
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T trong>celltrong> receptor delta locus
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T trong>celltrong> receptor gamma locus
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 gamma locus. The gamma locus includes V (variable), J (joining), and C (constant) segments. During T trong>celltrong> development, the gamma chain is synthesized by a recombination event at the DNA level joining a V segment with a J segment; the C segment is later joined by splicing at the RNA level. Recombination 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 addition trong>oftrong> nucleotides by terminal deoxynucleotidyltransferase. Several V segments trong>oftrong> the gamma locus are known to be incapable trong>oftrong> encoding a protein and are considered pseudogenes. Somatic rearrangement trong>oftrong> the gamma locus has been observed in T trong>celltrong>s derived from patients with T trong>celltrong> leukemia and ataxia telangiectasia. [provided by RefSeq, Jul 2008]
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trong>celltrong> division cycle 42 pseudogene 4
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trong>celltrong> division cycle 42 pseudogene 6
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trong>celltrong> division cycle 42 pseudogene 1
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trong>celltrong> division cycle 42 pseudogene 2
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cutaneous T-trong>celltrong> lymphoma-associated antigen 1 pseudogene
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trong>celltrong> cycle exit and neuronal differentiation 1 pseudogene 1
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trong>celltrong> cycle exit and neuronal differentiation 1 pseudogene 2
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epithelial trong>celltrong> transforming 2
The protein encoded by this gene is a guanine nucleotide exchange factor and transforming protein that is related to Rho-specific exchange factors and yeast trong>celltrong> cycle regulators. The expression trong>oftrong> this gene is elevated with the onset trong>oftrong> DNA synthesis and remains elevated during G2 and M phases. In situ hybridization analysis showed that expression is at a high level in trong>celltrong>s undergoing mitosis in regenerating liver. Thus, this protein is expressed in a trong>celltrong> cycle-dependent manner during liver regeneration, and is thought to have an important role in the regulation trong>oftrong> cytokinesis. Several transcript variants encoding different istrong>oftrong>orms have been found for this gene. [provided by RefSeq, Mar 2017]
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T trong>celltrong> receptor delta joining 4
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]
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T trong>celltrong> receptor delta joining 1
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]
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T trong>celltrong> receptor delta joining 3
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]
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T trong>celltrong> receptor delta joining 2
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]
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speedy/RINGO trong>celltrong> cycle regulator family member E14, pseudogene
Predicted to enable protein kinase binding activity. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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killer trong>celltrong> lectin-like receptor subfamily C, member 1
Natural killer (NK) trong>celltrong>s are lymphocytes that can mediate lysis trong>oftrong> certain tumor trong>celltrong>s and virus-infected trong>celltrong>s without previous activation. They can also regulate specific humoral and trong>celltrong>-mediated immunity. The protein encoded by this gene belongs to the killer trong>celltrong> lectin-like receptor family, also called NKG2 family, which is a group trong>oftrong> transmembrane proteins preferentially expressed in NK trong>celltrong>s. This family trong>oftrong> proteins is characterized by the type II membrane orientation and the presence trong>oftrong> a C-type lectin domain. This protein forms a complex with another family member, KLRD1/CD94, and has been implicated in the recognition trong>oftrong> the MHC class I HLA-E molecules in NK trong>celltrong>s. The genes trong>oftrong> NKG2 family members form a killer trong>celltrong> lectin-like receptor gene cluster on chromosome 12. Multiple alternatively spliced transcript variants encoding distinct istrong>oftrong>orms have been observed. [provided by RefSeq, Jan 2015]
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killer trong>celltrong> lectin-like receptor subfamily C, member 3
Natural killer (NK) trong>celltrong>s are lymphocytes that can mediate lysis trong>oftrong> certain tumor trong>celltrong>s and virus-infected trong>celltrong>s without previous activation. They can also regulate specific humoral and trong>celltrong>-mediated immunity. NK trong>celltrong>s preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation trong>oftrong> NK trong>celltrong> function. KLRC3 is a member trong>oftrong> the NKG2 group which are expressed primarily in natural killer (NK) trong>celltrong>s and encodes a family trong>oftrong> transmembrane proteins characterized by a type II membrane orientation (extratrong>celltrong>ular C terminus) and the presence trong>oftrong> a C-type lectin domain. The NKG2 gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed on NK trong>celltrong>s. Alternative splicing results in multiple transcript variants encoding different istrong>oftrong>orms. [provided by RefSeq, Jul 2008]
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killer trong>celltrong> lectin-like receptor subfamily C, member 2
Natural killer (NK) trong>celltrong>s are lymphocytes that can mediate lysis trong>oftrong> certain tumor trong>celltrong>s and virus-infected trong>celltrong>s without previous activation. They can also regulate specific humoral and trong>celltrong>-mediated immunity. NK trong>celltrong>s preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation trong>oftrong> NK trong>celltrong> function. The group, designated KLRC (NKG2) are expressed primarily in natural killer (NK) trong>celltrong>s and encodes a family trong>oftrong> transmembrane proteins characterized by a type II membrane orientation (extratrong>celltrong>ular C terminus) and the presence trong>oftrong> a C-type lectin domain. The KLRC (NKG2) gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed on NK trong>celltrong>s. KLRC2 alternative splice variants have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
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killer trong>celltrong> lectin-like receptor subfamily C, member 4
Natural killer (NK) trong>celltrong>s are lymphocytes that can mediate lysis trong>oftrong> certain tumor trong>celltrong>s and virus-infected trong>celltrong>s without previous activation. They can also regulate specific humoral and trong>celltrong>-mediated immunity. NK trong>celltrong>s preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation trong>oftrong> NK trong>celltrong> function. This gene is a member trong>oftrong> the NKG2 group trong>oftrong> genes that are expressed primarily in natural killer (NK) trong>celltrong>s. These family members encode transmembrane proteins that are characterized by a type II membrane orientation (have an extratrong>celltrong>ular C-terminus) and the presence trong>oftrong> a C-type lectin domain. This family member is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed in NK trong>celltrong>s. Read-through transcription exists between this gene and the downstream KLRK1 (killer trong>celltrong> lectin-like receptor subfamily K, member 1) family member. [provided by RefSeq, Dec 2010]
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mal, T-trong>celltrong> differentiation protein-like
This gene encodes an element trong>oftrong> the machinery for raft-mediated trafficking in endothelial trong>celltrong>s. The encoded protein, a member trong>oftrong> the MAL proteolipid family, predominantly localizes in glycolipid- and cholesterol-enriched membrane (GEM) rafts. It interacts with caveolin-1. [provided by RefSeq, Jul 2008]
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mal, T-trong>celltrong> differentiation protein 2 (gene/pseudogene)
This gene encodes a multispan transmembrane protein belonging to the MAL proteolipid family. The protein is a component trong>oftrong> lipid rafts and, in polarized trong>celltrong>s, it primarily localizes to endosomal structures beneath the apical membrane. It is required for transcytosis, an intratrong>celltrong>ular transport pathway used to deliver membrane-bound proteins and exogenous cargos from the basolateral to the apical surface. [provided by RefSeq, Jul 2008]
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MCF.2 trong>celltrong> line derived transforming sequence-like
This gene encodes a guanine nucleotide exchange factor that interacts specifically with the GTP-bound Rac1 and plays a role in the Rho/Rac signaling pathways. A variant in this gene was associated with osteoarthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
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par-6 family trong>celltrong> polarity regulator beta pseudogene
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T trong>celltrong> receptor beta joining 1-6
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]
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T trong>celltrong> receptor beta joining 1-5
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]
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T trong>celltrong> receptor beta joining 1-4
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]
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T trong>celltrong> receptor beta joining 1-3
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]
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T trong>celltrong> receptor beta joining 1-2
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]
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T trong>celltrong> receptor beta joining 1-1
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]
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taste receptor trong>celltrong> protein 1-like
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zyg-11 related, trong>celltrong> cycle regulator
This gene encodes a subunit trong>oftrong> an E3 ubiquitin ligase complex that may be involved in meiosis. The encoded protein contains three leucine-rich repeat motifs. [provided by RefSeq, Nov 2012]
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cutaneous T-trong>celltrong> lymphoma-associated antigen 1 pseudogene
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T trong>celltrong> receptor beta variable 23-1 (non-functional)
Predicted to be involved in trong>celltrong> surface receptor signaling pathway. Predicted to be located in immunological synapse. 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]
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neuroepithelial trong>celltrong> transforming 1 pseudogene
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neuroepithelial trong>celltrong> transforming 1 pseudogene
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T trong>celltrong> receptor alpha joining 59 (non-functional)
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]
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T trong>celltrong> receptor alpha joining 52
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]
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T trong>celltrong> receptor alpha joining 53
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]
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T trong>celltrong> receptor alpha joining 50
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]
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T trong>celltrong> receptor alpha joining 51 (pseudogene)
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]
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T trong>celltrong> receptor alpha joining 55 (pseudogene)
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]
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T trong>celltrong> receptor alpha variable 41
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]
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T trong>celltrong> receptor alpha variable 40
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]
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host trong>celltrong> factor C2 pseudogene 1
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mast trong>celltrong>-expressed membrane protein 1
This gene encodes a single-pass transmembrane protein. Based on its expression pattern, it is speculated to be involved in regulating mast trong>celltrong> differentiation or immune responses. [provided by RefSeq, Jul 2008]
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trong>celltrong> division cycle 16
The protein encoded by this gene functions as a protein ubiquitin ligase and is a component trong>oftrong> the multiprotein APC complex. The APC complex is a cyclin degradation system that governs exit from mitosis by targeting trong>celltrong> cycle proteins for degredation by the 26S proteasome. Each component protein trong>oftrong> the APC complex is highly conserved among eukaryotic organisms. This protein, and other APC complex proteins, contain a tetratricopeptide repeat (TPR) domain; a protein domain that is trong>oftrong>ten involved in protein-protein interactions and the assembly trong>oftrong> multiprotein complexes. Multiple alternatively spliced transcript variants, encoding distinct proteins, have been identified. [provided by RefSeq, Jan 2016]
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B-trong>celltrong> receptor-associated protein 29
Involved in osteoblast differentiation. Located in membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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epithelial trong>celltrong> transforming 2 like
Predicted to enable guanyl-nucleotide exchange factor activity. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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speedy/RINGO trong>celltrong> cycle regulator family member E9, pseudogene
Enables acetylcholine receptor regulator activity. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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speedy/RINGO trong>celltrong> cycle regulator family member E5
Predicted to enable protein kinase binding activity. Predicted to be involved in positive regulation trong>oftrong> cyclin-dependent protein serine/threonine kinase activity. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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speedy/RINGO trong>celltrong> cycle regulator family member E6
This gene encodes a trong>celltrong> cycle regulatory protein which plays an important role in trong>celltrong> cycle progression by binding and activating cyclin-dependent kinases. The encoded protein belongs to a family trong>oftrong> cyclin-dependent kinase regulators that contain a speedy box domain which is required for cyclin-dependent kinase activation. [provided by RefSeq, Jul 2017]
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speedy/RINGO trong>celltrong> cycle regulator family member E1
This gene is located at chromosome 7p13 which is close to the Williams Beuren syndrome chromosome region 7q11.23. [provided by RefSeq, Jul 2008]
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speedy/RINGO trong>celltrong> cycle regulator family member E3
Predicted to enable protein kinase binding activity. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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speedy/RINGO trong>celltrong> cycle regulator family member E2
Predicted to enable protein kinase binding activity. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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ES trong>celltrong> expressed Ras
This gene encodes a constitutively active member trong>oftrong> the small GTPase Ras protein family. The encoded protein activates the phosphatidylinositol 3-kinase signal transduction pathway in undifferentiated stem trong>celltrong>s, but is not expressed in differentiated trong>celltrong>s. This gene may be involved in cancer and chemotherapy resistance. [provided by RefSeq, Dec 2012]
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testicular germ trong>celltrong> tumor susceptibility 1
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islet trong>celltrong> autoantigen 1, 69kDa
This gene encodes a protein with an arfaptin homology domain that is found both in the cytosol and as membrane-bound form on the Golgi complex and immature secretory granules. This protein is believed to be an autoantigen in insulin-dependent diabetes mellitus and primary Sjogren's syndrome. Several transcript variants encoding two different istrong>oftrong>orms have been found for this gene. [provided by RefSeq, Feb 2013]
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trong>celltrong> division cycle associated 8 pseudogene
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trong>celltrong> division cycle 6
The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc6, a protein essential for the initiation trong>oftrong> DNA replication. This protein functions as a regulator at the early steps trong>oftrong> DNA replication. It localizes in trong>celltrong> nucleus during trong>celltrong> cyle G1, but translocates to the cytoplasm at the start trong>oftrong> S phase. The subtrong>celltrong>ular translocation trong>oftrong> this protein during trong>celltrong> cyle is regulated through its phosphorylation by Cdks. Transcription trong>oftrong> this protein was reported to be regulated in response to mitogenic signals through transcriptional control mechanism involving E2F proteins. [provided by RefSeq, Jul 2008]
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trong>celltrong> division cycle 7
This gene encodes a trong>celltrong> division cycle protein with kinase activity that is critical for the G1/S transition. The yeast homolog is also essential for initiation trong>oftrong> DNA replication as trong>celltrong> division occurs. Overexpression trong>oftrong> this gene product may be associated with neoplastic transformation for some tumors. Multiple alternatively spliced transcript variants that encode the same protein have been detected. [provided by RefSeq, Aug 2008]
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T trong>celltrong> receptor alpha variable 1-1
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]
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T trong>celltrong> receptor alpha variable 1-2
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]
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carcinoembryonic antigen-related trong>celltrong> adhesion molecule pseudogene 10
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carcinoembryonic antigen-related trong>celltrong> adhesion molecule pseudogene 11
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IL2-inducible T-trong>celltrong> kinase
This gene encodes an intratrong>celltrong>ular tyrosine kinase expressed in T-trong>celltrong>s. The protein contains both SH2 and SH3 domains which are trong>oftrong>ten found in intratrong>celltrong>ular kinases. It is thought to play a role in T-trong>celltrong> proliferation and differentiation. [provided by RefSeq, Jul 2008]
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B-trong>celltrong> CLL/lymphoma 9-like
Enables beta-catenin binding activity. Involved in several processes, including negative regulation trong>oftrong> transforming growth factor beta receptor signaling pathway; positive regulation trong>oftrong> epithelial to mesenchymal transition; and positive regulation trong>oftrong> transcription by RNA polymerase II. Located in fibrillar center and nucleoplasm. Part trong>oftrong> beta-catenin-TCF complex. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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speedy/RINGO trong>celltrong> cycle regulator family member E18
Predicted to enable protein kinase binding activity. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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endothelial trong>celltrong>-specific molecule 1
This gene encodes a secreted protein which is mainly expressed in the endothelial trong>celltrong>s in human lung and kidney tissues. The expression trong>oftrong> this gene is regulated by cytokines, suggesting that it may play a role in endothelium-dependent pathological disorders. The transcript contains multiple polyadenylation and mRNA instability signals. Two transcript variants encoding different istrong>oftrong>orms have been found for this gene. [provided by RefSeq, Oct 2008]
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male germ trong>celltrong>-associated kinase
The product trong>oftrong> this gene is a serine/threonine protein kinase related to kinases involved in trong>celltrong> cycle regulation. Studies trong>oftrong> the mouse and rat homologs have localized the kinase to the chromosomes during meiosis in spermatogenesis, specifically to the synaptonemal complex that exists while homologous chromosomes are paired. Mutations in this gene have been associated with ciliary defects resulting in retinitis pigmentosa 62. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
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mal, T-trong>celltrong> differentiation protein
The protein encoded by this gene is a highly hydrophobic integral membrane protein belonging to the MAL family trong>oftrong> proteolipids. The protein has been localized to the endoplasmic reticulum trong>oftrong> T-trong>celltrong>s and is a candidate linker protein in T-trong>celltrong> signal transduction. In addition, this proteolipid is localized in compact myelin trong>oftrong> trong>celltrong>s in the nervous system and has been implicated in myelin biogenesis and/or function. The protein plays a role in the formation, stabilization and maintenance trong>oftrong> glycosphingolipid-enriched membrane microdomains. Down-regulation trong>oftrong> this gene has been associated with a variety trong>oftrong> human epithelial malignancies. Alternative splicing produces four transcript variants which vary from each other by the presence or absence trong>oftrong> alternatively spliced exons 2 and 3. [provided by RefSeq, May 2012]
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trong>celltrong> division cycle 37-like 1
CDC37L1 is a cytoplasmic phosphoprotein that exists in complex with HSP90 (HSPCA; MIM 140571) as well as several other proteins involved in HSP90-mediated protein folding (Scholz et al., 2001 [PubMed 11413142]).[supplied by OMIM, Mar 2008]
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carcinoembryonic antigen-related trong>celltrong> adhesion molecule pseudogene 8
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carcinoembryonic antigen-related trong>celltrong> adhesion molecule pseudogene 9
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carcinoembryonic antigen-related trong>celltrong> adhesion molecule pseudogene 2
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carcinoembryonic antigen-related trong>celltrong> adhesion molecule pseudogene 3
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carcinoembryonic antigen-related trong>celltrong> adhesion molecule pseudogene 1
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carcinoembryonic antigen-related trong>celltrong> adhesion molecule pseudogene 6
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carcinoembryonic antigen-related trong>celltrong> adhesion molecule pseudogene 7
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carcinoembryonic antigen-related trong>celltrong> adhesion molecule pseudogene 4
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carcinoembryonic antigen-related trong>celltrong> adhesion molecule pseudogene 5
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killer trong>celltrong> immunoglobulin-like receptor 2DS3
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proliferating trong>celltrong> nuclear antigen pseudogene 3
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neuroepithelial trong>celltrong> transforming 1 pseudogene
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inducible T-trong>celltrong> co-stimulator ligand
Enables identical protein binding activity and receptor ligand activity. Involved in T follicular helper trong>celltrong> differentiation. Located in intratrong>celltrong>ular membrane-bounded organelle. Is active in plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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Down syndrome trong>celltrong> adhesion molecule like 1
The protein encoded by this gene is a member trong>oftrong> the Ig superfamily trong>oftrong> trong>celltrong> adhesion molecules and is involved in neuronal differentiation. The encoded membrane-bound protein localizes to the trong>celltrong> surface, where it forms aggregates that repel neuronal processes trong>oftrong> the same trong>celltrong> type. [provided by RefSeq, Sep 2016]
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carcinoembryonic antigen-related trong>celltrong> adhesion molecule 22, pseudogene
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MCF.2 trong>celltrong> line derived transforming sequence-like 2
Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be located in cytosol. Predicted to be active in cytoplasm. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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trong>celltrong> growth regulator with EF-hand domain 1
Predicted to enable calcium ion binding activity. Predicted to be involved in negative regulation trong>oftrong> trong>celltrong> population proliferation. Predicted to be located in extratrong>celltrong>ular region. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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mucin 20, trong>celltrong> surface associated pseudogene
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B-trong>celltrong> CLL/lymphoma 10
This gene was identified by its translocation in a case trong>oftrong> mucosa-associated lymphoid tissue (MALT) lymphoma. The protein encoded by this gene contains a caspase recruitment domain (CARD), and has been shown to induce apoptosis and to activate NF-kappaB. This protein is reported to interact with other CARD domain containing proteins including CARD9, 10, 11 and 14, which are thought to function as upstream regulators in NF-kappaB signaling. This protein is found to form a complex with MALT1, a protein encoded by another gene known to be translocated in MALT lymphoma. MALT1 and this protein are thought to synergize in the activation trong>oftrong> NF-kappaB, and the deregulation trong>oftrong> either trong>oftrong> them may contribute to the same pathogenetic process that leads to the malignancy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
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L1 trong>celltrong> adhesion molecule
The protein encoded by this gene is an axonal glycoprotein belonging to the immunoglobulin supergene family. The ectodomain, consisting trong>oftrong> several immunoglobulin-like domains and fibronectin-like repeats (type III), is linked via a single transmembrane sequence to a conserved cytoplasmic domain. This trong>celltrong> adhesion molecule plays an important role in nervous system development, including neuronal migration and differentiation. Mutations in the gene cause X-linked neurological syndromes known as CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing trong>oftrong> this gene results in multiple transcript variants, some trong>oftrong> which include an alternate exon that is considered to be specific to neurons. [provided by RefSeq, May 2013]
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Temperature sensitivity complementation, trong>celltrong> cycle specific
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T trong>celltrong> receptor beta variable 27
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]
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T trong>celltrong> receptor alpha variable 38-1
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]
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trong>celltrong> cycle associated protein 1
Enables several functions, including ATP binding activity; molecular condensate scaffold activity; and signaling adaptor activity. Involved in membraneless organelle assembly; positive regulation trong>oftrong> stress granule assembly; and regulation trong>oftrong> gene expression. Located in trong>celltrong> leading edge and cytosol. Is active in intratrong>celltrong>ular membraneless organelle. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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embryonic stem trong>celltrong> related (non-protein coding)
Part trong>oftrong> nucleus. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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T trong>celltrong> receptor beta variable 3-2 (pseudogene)
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killer trong>celltrong> lectin-like receptor subfamily F, member 2
Enables protein homodimerization activity. Predicted to be involved in natural killer trong>celltrong> degranulation and positive regulation trong>oftrong> cytokine production. Predicted to act upstream trong>oftrong> or within natural killer trong>celltrong> activation and positive regulation trong>oftrong> natural killer trong>celltrong> mediated cytotoxicity. Located in plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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killer trong>celltrong> lectin-like receptor subfamily F, member 1
KLRF1, an activating homodimeric C-type lectin-like receptor (CTLR), is expressed on nearly all natural killer (NK) trong>celltrong>s and stimulates their cytoxicity and cytokine release (Kuttruff et al., 2009 [PubMed 18922855]).[supplied by OMIM, Oct 2009]
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speedy/RINGO trong>celltrong> cycle regulator family member E19, pseudogene
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squamous trong>celltrong> carcinoma antigen recognized by T trong>celltrong>s 3
The protein encoded by this gene is an RNA-binding nuclear protein that is a tumor-rejection antigen. This antigen possesses tumor epitopes capable trong>oftrong> inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. This gene product is found to be an important trong>celltrong>ular factor for HIV-1 gene expression and viral replication. It also associates transiently with U6 and U4/U6 snRNPs during the recycling phase trong>oftrong> the spliceosome cycle. This encoded protein is thought to be involved in the regulation trong>oftrong> mRNA splicing. [provided by RefSeq, Jul 2008]
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leukocyte trong>celltrong> derived chemotaxin 1
This gene encodes a glycosylated transmembrane protein that is cleaved to form a mature, secreted protein. The N-terminus trong>oftrong> the precursor protein shares characteristics with other surfactant proteins and is sometimes called chondrosurfactant protein although no biological activity has yet been defined for it. The C-terminus trong>oftrong> the precursor protein contains a 25 kDa mature protein called leukocyte trong>celltrong>-derived chemotaxin-1 or chondromodulin-1. The mature protein promotes chondrocyte growth and inhibits angiogenesis. This gene is expressed in the avascular zone trong>oftrong> prehypertrophic cartilage and its expression decreases during chondrocyte hypertrophy and vascular invasion. The mature protein likely plays a role in endochondral bone development by permitting cartilaginous anlagen to be vascularized and replaced by bone. It may be involved also in the broad control trong>oftrong> tissue vascularization during development. Alternative splicing results in multiple transcript variants encoding different istrong>oftrong>orms. [provided by RefSeq, Jul 2008]
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leukocyte trong>celltrong>-derived chemotaxin 2
This gene encodes a secreted, 16 kDa protein that acts as a chemotactic factor to neutrophils and stimulates the growth trong>oftrong> chondrocytes and osteoblasts. This protein has high sequence similarity to the chondromodulin repeat regions trong>oftrong> the chicken myb-induced myeloid 1 protein. A polymorphism in this gene may be associated with rheumatoid arthritis. [provided by RefSeq, Jul 2008]
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opioid binding protein/trong>celltrong> adhesion molecule-like
This gene encodes a member trong>oftrong> the IgLON subfamily in the immunoglobulin protein superfamily trong>oftrong> proteins. The encoded preprotein is proteolytically processed to generate the mature protein. This protein is localized in the plasma membrane and may have an accessory role in opioid receptor function. This gene has an ortholog in rat and bovine. The opioid binding-trong>celltrong> adhesion molecule encoded by the rat gene binds opioid alkaloids in the presence trong>oftrong> acidic lipids, exhibits selectivity for mu ligands and acts as a GPI-anchored protein. Since the encoded protein is highly conserved in species during evolution, it may have a fundamental role in mammalian systems. Alternative splicing results in multiple transcript variants, at least one trong>oftrong> which encodes an istrong>oftrong>orm that is proteolytically processed. [provided by RefSeq, Jan 2016]
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WD repeat containing planar trong>celltrong> polarity effector
This gene encodes a cytoplasmic WD40 repeat protein. A similar gene in frogs encodes a planar trong>celltrong> polarity protein that plays a critical role in collective trong>celltrong> movement and ciliogenesis by mediating septin localization. Mutations in this gene are associated with Bardet-Biedl syndrome 15 and may also play a role in Meckel-Gruber syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
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trong>celltrong> adhesion associated, oncogene regulated pseudogene
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speedy/RINGO trong>celltrong> cycle regulator family member E17
Enables acetylcholine receptor regulator activity. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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speedy/RINGO trong>celltrong> cycle regulator family member E16
Predicted to enable protein kinase binding activity. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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speedy/RINGO trong>celltrong> cycle regulator family member A
Enables protein kinase activator activity and protein kinase binding activity. Involved in several processes, including G1/S transition trong>oftrong> mitotic trong>celltrong> cycle; positive regulation trong>oftrong> trong>celltrong> population proliferation; and positive regulation trong>oftrong> protein kinase activity. Located in nucleoplasm. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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speedy/RINGO trong>celltrong> cycle regulator family member C
Enables protein kinase binding activity. Predicted to be located in nucleus. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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B-trong>celltrong> acute lymphoblastic leukemia expressed
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T trong>celltrong> receptor beta variable 12-4
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]
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T trong>celltrong> receptor beta variable 12-5
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]
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T trong>celltrong> receptor beta variable 12-1 (pseudogene)
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T trong>celltrong> receptor beta variable 12-2 (pseudogene)
Predicted to be involved in immune system process. Predicted to be located in plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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T trong>celltrong> receptor beta variable 12-3
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]
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trong>celltrong> adhesion associated, oncogene regulated pseudogene
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killer trong>celltrong> immunoglobulin-like receptor, three domains, pseudogene 1
Killer trong>celltrong> immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer trong>celltrong>s and subsets trong>oftrong> T trong>celltrong>s. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content trong>oftrong> the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number trong>oftrong> extratrong>celltrong>ular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets trong>oftrong> HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation trong>oftrong> the immune response. This gene is one trong>oftrong> the `framework` loci that is present on all haplotypes. This gene is considered to be a pseudogene based on the absence trong>oftrong> transcription and it lacks several functional domains compared to other killer trong>celltrong> immunoglobulin-like receptors. A rare haplotype, the result trong>oftrong> a recombinantion event, has two copies trong>oftrong> this gene, one trong>oftrong> which may encode a secreted protein. (PMID: 15580659)[provided by RefSeq, Mar 2011]
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smooth muscle and endothelial trong>celltrong> enriched migration/differentiation-associated long non-coding RNA
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B-trong>celltrong> linker
This gene encodes a cytoplasmic linker or adaptor protein that plays a critical role in B trong>celltrong> development. This protein bridges B trong>celltrong> receptor-associated kinase activation with downstream signaling pathways, thereby affecting various biological functions. The phosphorylation trong>oftrong> five tyrosine residues is necessary for this protein to nucleate distinct signaling effectors following B trong>celltrong> receptor activation. Mutations in this gene cause hypoglobulinemia and absent B trong>celltrong>s, a disease in which the pro- to pre-B-trong>celltrong> transition is developmentally blocked. Deficiency in this protein has also been shown in some cases trong>oftrong> pre-B acute lymphoblastic leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]
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T trong>celltrong>-interacting, activating receptor on myeloid trong>celltrong>s 1
Enables immunoglobulin receptor binding activity. Involved in negative regulation trong>oftrong> CD4-positive, alpha-beta T trong>celltrong> activation. Located in plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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T-trong>celltrong> immunoglobulin and mucin domain containing 4
Predicted to enable phosphatidylserine binding activity. Predicted to be involved in apoptotic trong>celltrong> clearance and cytoskeletal rearrangement involved in phagocytosis, engulfment. Predicted to be located in extratrong>celltrong>ular region and plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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T trong>celltrong> receptor beta variable 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]
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T trong>celltrong> receptor beta variable 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]
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T trong>celltrong> receptor beta variable 1 (pseudogene)
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T trong>celltrong> receptor beta variable C
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T trong>celltrong> receptor beta variable B (pseudogene)
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T trong>celltrong> receptor beta variable A (pseudogene)
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mediator trong>oftrong> trong>celltrong> motility 1 pseudogene
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mucin 3A, trong>celltrong> surface associated
The mucin genes encode epithelial glycoproteins, some trong>oftrong> which are secreted and some membrane bound. Each trong>oftrong> the genes contains at least one large domain trong>oftrong> tandemly repeated sequence that encodes the peptide sequence rich in serine and/or threonine residues, which carries most trong>oftrong> the O-linked glycosylation (Gendler and Spicer, 1995 [PubMed 7778880]).[supplied by OMIM, Aug 2008]
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mucin 3B, trong>celltrong> surface associated
Predicted to be located in Golgi lumen and plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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host trong>celltrong> factor C2
This gene encodes one trong>oftrong> two proteins which interact with VP16, a herpes simplex virus protein that initiates virus infection. Both the encoded protein and the original Herpes host trong>celltrong> factor interact with VP16 through a beta-propeller domain. The original Herpes host trong>celltrong> factor, however, is effective at initiating viral infection while the encoded protein is not. Transcripts trong>oftrong> varying length due to alternative polyadenylation signals have been described. [provided by RefSeq, Jul 2008]
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host trong>celltrong> factor C1
This gene is a member trong>oftrong> the host trong>celltrong> factor family and encodes a protein with five Kelch repeats, a fibronectin-like motif, and six HCF repeats, each trong>oftrong> which contains a highly specific cleavage signal. This nuclear coactivator is proteolytically cleaved at one trong>oftrong> the six possible sites, resulting in the creation trong>oftrong> an N-terminal chain and the corresponding C-terminal chain. The final form trong>oftrong> this protein consists trong>oftrong> noncovalently bound N- and C-terminal chains. The protein is involved in control trong>oftrong> the trong>celltrong> cycle and transcriptional regulation during herpes simplex virus infection. Alternatively spliced variants which encode different protein istrong>oftrong>orms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
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B-trong>celltrong> receptor-associated protein 31 pseudogene 2
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Pancreatic beta trong>celltrong>, agenesis trong>oftrong>
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membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic trong>celltrong>-specific)
This gene encodes a member trong>oftrong> the membrane-spanning 4A gene family. Members trong>oftrong> this protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic trong>celltrong>s and nonlymphoid tissues. This family member likely plays a role in signal transduction and may function as a subunit associated with receptor complexes. The gene encoding this protein is localized to 11q12, among a cluster trong>oftrong> related family members. Alternative splicing may result in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
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T trong>celltrong> receptor alpha variable 34
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]
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T trong>celltrong> receptor alpha variable 35
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]
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T trong>celltrong> receptor alpha variable 37 (pseudogene)
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]
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T trong>celltrong> receptor alpha variable 30
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]
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T trong>celltrong> receptor alpha variable 32 (pseudogene)
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]
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T trong>celltrong> receptor alpha variable 33 (pseudogene)
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]
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T trong>celltrong> receptor alpha variable 39
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]
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killer trong>celltrong> immunoglobulin-like receptor, two domains, pseudogene 1
Predicted to be involved in immune response-regulating signaling pathway. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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testicular trong>celltrong> adhesion molecule 1, pseudogene
This pseudogene is located downstream from the growth hormone locus on chromosome 17. This locus evolved by a series trong>oftrong> partial duplications that have disrupted the human gene. A homologous gene in mouse encodes a testis-specific trong>celltrong> adhesion protein that may play a role in germ trong>celltrong>-Sertoli trong>celltrong> interactions. [provided by RefSeq, Apr 2012]
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bone marrow stromal trong>celltrong> antigen 1
Bone marrow stromal trong>celltrong> antigen-1 is a stromal trong>celltrong> line-derived glycosylphosphatidylinositol-anchored molecule that facilitates pre-B-trong>celltrong> growth. The deduced amino acid sequence exhibits 33% similarity with CD38. BST1 expression is enhanced in bone marrow stromal trong>celltrong> lines derived from patients with rheumatoid arthritis. The polyclonal B-trong>celltrong> abnormalities in rheumatoid arthritis may be, at least in part, attributed to BST1 overexpression in the stromal trong>celltrong> population. [provided by RefSeq, Jul 2008]
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bone marrow stromal trong>celltrong> antigen 2
Bone marrow stromal trong>celltrong>s are involved in the growth and development trong>oftrong> B-trong>celltrong>s. The specific function trong>oftrong> the protein encoded by the bone marrow stromal trong>celltrong> antigen 2 is undetermined; however, this protein may play a role in pre-B-trong>celltrong> growth and in rheumatoid arthritis. [provided by RefSeq, Jul 2008]
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Purkinje trong>celltrong> protein 4 like 1
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T trong>celltrong> receptor beta variable 29/OR9-2 (non-functional)
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F-trong>celltrong> production 1
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T trong>celltrong> receptor beta variable 24/OR9-2 (pseudogene)
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T trong>celltrong> receptor gamma variable 11 (non-functional)
Predicted to be involved in adaptive immune response. Predicted to be located in external side trong>oftrong> plasma membrane. Predicted to be part trong>oftrong> T trong>celltrong> receptor complex. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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neural precursor trong>celltrong> expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase
This gene is the founding member trong>oftrong> the NEDD4 family trong>oftrong> HECT ubiquitin ligases that function in the ubiquitin proteasome system trong>oftrong> protein degradation. The encoded protein contains an N-terminal calcium and phospholipid binding C2 domain followed by multiple tryptophan-rich WW domains and, a C-terminal HECT ubiquitin ligase catalytic domain. It plays critical role in the regulation trong>oftrong> a number trong>oftrong> membrane receptors, endocytic machinery components and the tumor suppressor PTEN. [provided by RefSeq, Jul 2016]
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T trong>celltrong> receptor alpha variable 12-1
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]
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T trong>celltrong> receptor alpha variable 12-3
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]
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T trong>celltrong> receptor alpha variable 12-2
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]
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speedy/RINGO trong>celltrong> cycle regulator family member E20, pseudogene
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undifferentiated embryonic trong>celltrong> transcription factor 1
The protein encoded by this gene is a leucine zipper-containing transcriptional coactivator that may link the upstream activator ATF2 with the basal transcription complex. The encoded protein is closely associated with chromatin and is required for the proper differentiation trong>oftrong> embryonic carcinoma and embryonic stem trong>celltrong>s. Found nearly exclusively in pluripotent trong>celltrong>s, this protein can also serve as a transcriptional repressor. [provided by RefSeq, Nov 2015]
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carcinoembryonic antigen-related trong>celltrong> adhesion molecule 1 (biliary glycoprotein)
This gene encodes a member trong>oftrong> the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily. Two subgroups trong>oftrong> the CEA family, the CEA trong>celltrong> adhesion molecules and the pregnancy-specific glycoproteins, are located within a 1.2 Mb cluster on the long arm trong>oftrong> chromosome 19. Eleven pseudogenes trong>oftrong> the CEA trong>celltrong> adhesion molecule subgroup are also found in the cluster. The encoded protein was originally described in bile ducts trong>oftrong> liver as biliary glycoprotein. Subsequently, it was found to be a trong>celltrong>-trong>celltrong> adhesion molecule detected on leukocytes, epithelia, and endothelia. The encoded protein mediates trong>celltrong> adhesion via homophilic as well as heterophilic binding to other proteins trong>oftrong> the subgroup. Multiple trong>celltrong>ular activities have been attributed to the encoded protein, including roles in the differentiation and arrangement trong>oftrong> tissue three-dimensional structure, angiogenesis, apoptosis, tumor suppression, metastasis, and the modulation trong>oftrong> innate and adaptive immune responses. Multiple transcript variants encoding different istrong>oftrong>orms have been reported, but the full-length nature trong>oftrong> all variants has not been defined. [provided by RefSeq, May 2010]
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carcinoembryonic antigen-related trong>celltrong> adhesion molecule 3
This gene encodes a member trong>oftrong> the family trong>oftrong> carcinoembryonic antigen-related trong>celltrong> adhesion molecules (CEACAMs), which are used by several bacterial pathogens to bind and invade host trong>celltrong>s. The encoded transmembrane protein directs phagocytosis trong>oftrong> several bacterial species that is dependent on the small GTPase Rac. It is thought to serve an important role in controlling human-specific pathogens by the innate immune system. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2013]
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carcinoembryonic antigen-related trong>celltrong> adhesion molecule 5
This gene encodes a trong>celltrong> surface glycoprotein that represents the founding member trong>oftrong> the carcinoembryonic antigen (CEA) family trong>oftrong> proteins. The encoded protein is used as a clinical biomarker for gastrointestinal cancers and may promote tumor development through its role as a trong>celltrong> adhesion molecule. Additionally, the encoded protein may regulate differentiation, apoptosis, and trong>celltrong> polarity. This gene is present in a CEA family gene cluster on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
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carcinoembryonic antigen-related trong>celltrong> adhesion molecule 4
Predicted to enable protein tyrosine kinase binding activity. Involved in phagocytosis. Predicted to be located in membrane. Predicted to be active in trong>celltrong> surface and plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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carcinoembryonic antigen-related trong>celltrong> adhesion molecule 7
This gene encodes a trong>celltrong> surface glycoprotein and member trong>oftrong> the carcinoembryonic antigen (CEA) family trong>oftrong> proteins. Expression trong>oftrong> this gene may be downregulated in colon and rectal cancer. Additionally, lower expression levels trong>oftrong> this gene may be predictive trong>oftrong> rectal cancer recurrence. This gene is present in a CEA family gene cluster on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
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carcinoembryonic antigen-related trong>celltrong> adhesion molecule 6 (non-specific cross reacting antigen)
This gene encodes a protein that belongs to the carcinoembryonic antigen (CEA) family whose members are glycosyl phosphatidyl inositol (GPI) anchored trong>celltrong> surface glycoproteins. Members trong>oftrong> this family play a role in trong>celltrong> adhesion and are widely used as tumor markers in serum immunoassay determinations trong>oftrong> carcinoma. This gene affects the sensitivity trong>oftrong> tumor trong>celltrong>s to adenovirus infection. The protein encoded by this gene acts as a receptor for adherent-invasive E. coli adhesion to the surface trong>oftrong> ileal epithelial trong>celltrong>s in patients with Crohn's disease. This gene is clustered with genes and pseudogenes trong>oftrong> the trong>celltrong> adhesion molecules subgroup trong>oftrong> the CEA family on chromosome 19. [provided by RefSeq, Apr 2014]
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carcinoembryonic antigen-related trong>celltrong> adhesion molecule 8
Enables protein heterodimerization activity. Involved in heterophilic trong>celltrong>-trong>celltrong> adhesion via plasma membrane trong>celltrong> adhesion molecules. Located in trong>celltrong> surface and extratrong>celltrong>ular space. Biomarker trong>oftrong> severe acute respiratory syndrome. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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histone trong>celltrong> cycle regulator pseudogene 1
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trong>celltrong> division cycle 42 pseudogene 3
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T trong>celltrong> receptor alpha variable 13-1
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]
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T trong>celltrong> receptor alpha variable 13-2
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]
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basal trong>celltrong> adhesion molecule (Lutheran blood group)
This gene encodes Lutheran blood group glycoprotein, a member trong>oftrong> the immunoglobulin superfamily and a receptor for the extratrong>celltrong>ular matrix protein, laminin. The protein contains five extratrong>celltrong>ular immunoglobulin domains, a single transmembrane domain, and a short C-terminal cytoplasmic tail. This protein may play a role in epithelial trong>celltrong> cancer and in vaso-occlusion trong>oftrong> red blood trong>celltrong>s in sickle trong>celltrong> disease. Polymorphisms in this gene define some trong>oftrong> the antigens in the Lutheran system and also the Auberger system. Inactivating variants trong>oftrong> this gene result in the recessive Lutheran null phenotype, Lu(a-b-), trong>oftrong> the Lutheran blood group. Two transcript variants encoding different istrong>oftrong>orms have been found for this gene. [provided by RefSeq, May 2012]
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CWF19-like 1, trong>celltrong> cycle control (S. pombe)
This gene encodes a member trong>oftrong> the CWF19 protein family. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia-17 and mild cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
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CWF19-like 2, trong>celltrong> cycle control (S. pombe)
Predicted to be involved in mRNA splicing, via spliceosome. Predicted to be located in nucleoplasm. Predicted to be part trong>oftrong> post-mRNA release spliceosomal complex. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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killer trong>celltrong> immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3
Killer trong>celltrong> immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer trong>celltrong>s and subsets trong>oftrong> T trong>celltrong>s. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content trong>oftrong> the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number trong>oftrong> extratrong>celltrong>ular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets trong>oftrong> HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation trong>oftrong> the immune response. [provided by RefSeq, Jul 2008]
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killer trong>celltrong> immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2
Killer trong>celltrong> immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer trong>celltrong>s and subsets trong>oftrong> T trong>celltrong>s. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content trong>oftrong> the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number trong>oftrong> extratrong>celltrong>ular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets trong>oftrong> HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation trong>oftrong> the immune response. [provided by RefSeq, Jul 2008]
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killer trong>celltrong> immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1
Killer trong>celltrong> immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer trong>celltrong>s and subsets trong>oftrong> T trong>celltrong>s. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content trong>oftrong> the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number trong>oftrong> extratrong>celltrong>ular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets trong>oftrong> HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation trong>oftrong> the immune response. [provided by RefSeq, Jul 2008]
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killer trong>celltrong> immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4
Killer trong>celltrong> immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer trong>celltrong>s and subsets trong>oftrong> T trong>celltrong>s. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content trong>oftrong> the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number trong>oftrong> extratrong>celltrong>ular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets trong>oftrong> HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation trong>oftrong> the immune response. This gene is one trong>oftrong> the `framework` loci that is present on all haplotypes. Alternate alleles trong>oftrong> this gene are represented on multiple alternate reference loci (ALT_REF_LOCs). Alternative splicing results in multiple transcript variants, some trong>oftrong> which may not be annotated on the primary reference assembly. [provided by RefSeq, Jul 2016]
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trong>celltrong> division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) pseudogene
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T trong>celltrong> receptor beta variable 29-1
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]
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T trong>celltrong> receptor alpha joining 4
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]
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T trong>celltrong> receptor alpha joining 5
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]
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T trong>celltrong> receptor alpha joining 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]
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T trong>celltrong> receptor alpha joining 7
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]
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T trong>celltrong> receptor alpha joining 1 (non-functional)
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]
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T trong>celltrong> receptor alpha joining 2 (non-functional)
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]
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T trong>celltrong> receptor alpha joining 3
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]
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T trong>celltrong> receptor alpha joining 8
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]
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T trong>celltrong> receptor alpha joining 9
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]
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germ trong>celltrong>-less, spermatogenesis associated 1
This gene encodes a nuclear envelope protein that appears to be involved in spermatogenesis, either directly or by influencing genes that play a more direct role in the process. This multi-exon locus is the homolog trong>oftrong> the mouse and drosophila germ trong>celltrong>-less gene but the human genome also contains a single-exon locus on chromosome 5 that contains an open reading frame capable trong>oftrong> encoding a highly-related protein. [provided by RefSeq, Jul 2008]
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trong>celltrong> adhesion molecule 4
Enables vascular endothelial growth factor receptor 2 binding activity. Involved in several processes, including negative regulation trong>oftrong> protein phosphorylation; regulation trong>oftrong> Rac protein signal transduction; and regulation trong>oftrong> wound healing. Located in trong>celltrong> leading edge and trong>celltrong>-trong>celltrong> contact zone. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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trong>celltrong> adhesion molecule 2
This gene encodes a member trong>oftrong> the synaptic trong>celltrong> adhesion molecule 1 (SynCAM) family which belongs to the immunoglobulin (Ig) superfamily. The encoded protein has three Ig-like domains and a cytosolic protein 4.1 binding site near the C-terminus. Proteins belonging to the protein 4.1 family crosslink spectrin and interact with other cytoskeletal proteins. Multiple transcript variants encoding different istrong>oftrong>orms have been found for this gene. [provided by RefSeq, Feb 2012]
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trong>celltrong> adhesion molecule 3
The protein encoded by this gene is a calcium-independent trong>celltrong>-trong>celltrong> adhesion protein that can form homodimers or heterodimers with other nectin proteins. The encoded protein has both homophilic and heterophilic trong>celltrong>-trong>celltrong> adhesion activity. This gene is reported to be a tumor suppressor gene. [provided by RefSeq, Oct 2016]
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trong>celltrong> adhesion molecule 1
Enables signaling receptor binding activity. Involved in several processes, including trong>celltrong> recognition; positive regulation trong>oftrong> cytokine production; and susceptibility to natural killer trong>celltrong> mediated cytotoxicity. Located in plasma membrane. Implicated in breast carcinoma and prostate cancer. Biomarker trong>oftrong> cervix uteri carcinoma in situ. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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vegetative trong>celltrong> wall protein gp1-like
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chymase 1, mast trong>celltrong>
This gene encodes a chymotryptic serine proteinase that belongs to the peptidase family S1. It is expressed in mast trong>celltrong>s and is thought to function in the degradation trong>oftrong> the extratrong>celltrong>ular matrix, the regulation trong>oftrong> submucosal gland secretion, and the generation trong>oftrong> vasoactive peptides. In the heart and blood vessels, this protein, rather than angiotensin converting enzyme, is largely responsible for converting angiotensin I to the vasoactive peptide angiotensin II. Alternative splicing results in multiple variants. [provided by RefSeq, Apr 2015]
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B-trong>celltrong> CLL/lymphoma 11A (zinc finger protein)
This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site trong>oftrong> retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic trong>celltrong> differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-trong>celltrong> malignancies also deregulates its expression. Multiple transcript variants encoding several different istrong>oftrong>orms have been found for this gene. [provided by RefSeq, Jul 2008]
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B-trong>celltrong> CLL/lymphoma 11B (zinc finger protein)
This gene encodes a C2H2-type zinc finger protein and is closely related to BCL11A, a gene whose translocation may be associated with B-trong>celltrong> malignancies. Although the specific function trong>oftrong> this gene has not been determined, the encoded protein is known to be a transcriptional repressor, and is regulated by the NURD nucleosome remodeling and histone deacetylase complex. Four alternatively spliced transcript variants encoding distinct istrong>oftrong>orms have been found for this gene. [provided by RefSeq, Aug 2013]
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biorientation trong>oftrong> chromosomes in trong>celltrong> division 1 pseudogene 2
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biorientation trong>oftrong> chromosomes in trong>celltrong> division 1 pseudogene 1
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Natural killer trong>celltrong> deficiency, familial isolated
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trong>celltrong> division cycle 42 pseudogene
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fizzy/trong>celltrong> division cycle 20 related 1 (Drosophila)
Enables ubiquitin-like ligase-substrate adaptor activity. Involved in anaphase-promoting complex-dependent catabolic process; mitotic G2 DNA damage checkpoint signaling; and positive regulation trong>oftrong> ubiquitin protein ligase activity. Located in nuclear membrane and nucleoplasm. Implicated in developmental and epileptic encephalopathy 109. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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RHO family interacting trong>celltrong> polarization regulator 1
Enables 14-3-3 protein binding activity. Involved in several processes, including establishment trong>oftrong> Golgi localization; negative regulation trong>oftrong> Rho guanyl-nucleotide exchange factor activity; and negative regulation trong>oftrong> Rho protein signal transduction. Located in Golgi apparatus; trong>celltrong> leading edge; and membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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nectin trong>celltrong> adhesion molecule 1
This gene encodes an adhesion protein that plays a role in the organization trong>oftrong> adherens junctions and tight junctions in epithelial and endothelial trong>celltrong>s. The protein is a calcium(2+)-independent trong>celltrong>-trong>celltrong> adhesion molecule that belongs to the immunoglobulin superfamily and has 3 extratrong>celltrong>ular immunoglobulin-like loops, a single transmembrane domain (in some istrong>oftrong>orms), and a cytoplasmic region. This protein acts as a receptor for glycoprotein D (gD) trong>oftrong> herpes simplex viruses 1 and 2 (HSV-1, HSV-2), and pseudorabies virus (PRV) and mediates viral entry into epithelial and neuronal trong>celltrong>s. Mutations in this gene cause cleft lip and palate/ectodermal dysplasia 1 syndrome (CLPED1) as well as non-syndromic cleft lip with or without cleft palate (CL/P). Alternative splicing results in multiple transcript variants encoding proteins with distinct C-termini. [provided by RefSeq, Oct 2009]
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trong>celltrong> migration inducing hyaluronidase 2
This gene encodes a type II transmembrane protein that belongs to the interferon-induced transmembrane (IFITM) protein superfamily. The encoded protein functions as a trong>celltrong> surface hyaluronidase that cleaves extratrong>celltrong>ular high molecular weight hyaluronan into intermediate size fragments before internalization and degradation in the lysosome. It also has an interferon-mediated antiviral function in humans through activation trong>oftrong> the JAK STAT signaling pathway. The activation trong>oftrong> this gene by transcription factor SOX4 in breast cancer trong>celltrong>s has been shown to mediate the pathological effects trong>oftrong> SOX4 on cancer progression. Naturally occurring mutations in this gene are associated with autosomal recessive non-syndromic hearing loss. [provided by RefSeq, Mar 2017]
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nectin trong>celltrong> adhesion molecule 4
This gene encodes a member trong>oftrong> the nectin family. The encoded protein contains two immunoglobulin-like (Ig-like) C2-type domains and one Ig-like V-type domain. It is involved in trong>celltrong> adhesion through trans-homophilic and -heterophilic interactions. It is a single-pass type I membrane protein. The soluble form is produced by proteolytic cleavage at the trong>celltrong> surface by the metalloproteinase ADAM17/TACE. The secreted form is found in both breast tumor trong>celltrong> lines and breast tumor patients. Mutations in this gene are the cause trong>oftrong> ectodermal dysplasia-syndactyly syndrome type 1, an autosomal recessive disorder. Alternatively spliced transcript variants have been found but the full-length nature trong>oftrong> the variant has not been determined.[provided by RefSeq, Jan 2011]
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nectin trong>celltrong> adhesion molecule 2
This gene encodes a single-pass type I membrane glycoprotein with two Ig-like C2-type domains and an Ig-like V-type domain. This protein is one trong>oftrong> the plasma membrane components trong>oftrong> adherens junctions. It also serves as an entry for certain mutant strains trong>oftrong> herpes simplex virus and pseudorabies virus, and it is involved in trong>celltrong> to trong>celltrong> spreading trong>oftrong> these viruses. Variations in this gene have been associated with differences in the severity trong>oftrong> multiple sclerosis. Alternate transcriptional splice variants, encoding different istrong>oftrong>orms, have been characterized. [provided by RefSeq, Jul 2008]
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PATJ crumbs trong>celltrong> polarity complex component
This gene encodes a protein with multiple PDZ domains. PDZ domains mediate protein-protein interactions, and proteins with multiple PDZ domains trong>oftrong>ten organize multimeric complexes at the plasma membrane. This protein localizes to tight junctions and to the apical membrane trong>oftrong> epithelial trong>celltrong>s. A similar protein in Drosophila is a scaffolding protein which tethers several members trong>oftrong> a multimeric signaling complex in photoreceptors. [provided by RefSeq, Jul 2008]
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nectin trong>celltrong> adhesion molecule 3
This gene encodes a member trong>oftrong> the nectin family trong>oftrong> proteins, which function as adhesion molecules at adherens junctions. This family member interacts with other nectin-like proteins and with afadin, a filamentous actin-binding protein involved in the regulation trong>oftrong> directional motility, trong>celltrong> proliferation and survival. This gene plays a role in ocular development involving the ciliary body. Mutations in this gene are believed to result in congenital ocular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
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RHO family interacting trong>celltrong> polarization regulator 2
This gene encodes an atypical inhibitor trong>oftrong> the small G protein RhoA. Inhibition trong>oftrong> RhoA activity by the encoded protein mediates myoblast fusion and polarization trong>oftrong> T trong>celltrong>s and neutrophils. The encoded protein is a component trong>oftrong> hair trong>celltrong> stereocilia that is essential for hearing. A splice site mutation in this gene results in hearing loss in human patients. [provided by RefSeq, Sep 2016]
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alkaline phosphatase, germ trong>celltrong>
There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The product trong>oftrong> this gene is a membrane bound glycosylated enzyme, localized to testis, thymus and certain germ trong>celltrong> tumors, that is closely related to both the placental and intestinal forms trong>oftrong> alkaline phosphatase. [provided by RefSeq, Jul 2008]
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germ trong>celltrong>-less 2, spermatogenesis associated
This locus shares a high degree trong>oftrong> identity with the multi-exon germ trong>celltrong>-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 trong>celltrong>-less related protein. [provided by RefSeq, Jul 2008]
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trong>celltrong> cycle regulator trong>oftrong> NHEJ
Predicted to enable molecular adaptor activity. Involved in double-strand break repair via nonhomologous end joining and negative regulation trong>oftrong> double-strand break repair via nonhomologous end joining. Located in cytoplasm and nucleus. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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speedy/RINGO trong>celltrong> cycle regulator family member E9
Enables acetylcholine receptor regulator activity. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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pancreatic progenitor trong>celltrong> differentiation and proliferation factor like
Predicted to be involved in trong>celltrong> differentiation. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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speedy/RINGO trong>celltrong> cycle regulator family member E10
Enables acetylcholine receptor regulator activity. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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germ trong>celltrong> nuclear acidic peptidase
Enables SUMO polymer binding activity. Involved in protein-DNA covalent cross-linking repair. Located in PML body. Implicated in X-linked spermatogenic failure 4. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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speedy/RINGO trong>celltrong> cycle regulator family member E21
Predicted to enable protein kinase binding activity. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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regulator trong>oftrong> hemoglobinization and erythroid trong>celltrong> expansion
Enables erythropoietin receptor binding activity. Involved in erythropoietin-mediated signaling pathway and positive regulation trong>oftrong> erythrocyte differentiation. Located in plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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speedy/RINGO trong>celltrong> cycle regulator family member E12
Predicted to enable protein kinase binding activity. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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killer trong>celltrong> lectin like receptor A1, pseudogene
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NOTCH1 associated lncRNA in T trong>celltrong> acute lymphoblastic leukemia 1
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mucin 20, trong>celltrong> surface associated pseudogene 1
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P38 inhibited cutaneous squamous trong>celltrong> carcinoma associated lincRNA
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NELL2 interacting trong>celltrong> ontogeny regulator 1
Predicted to enable mRNA 3'-UTR binding activity. Predicted to be involved in 3'-UTR-mediated mRNA stabilization and spermatogenesis. Predicted to be located in perinuclear region trong>oftrong> cytoplasm. Predicted to be active in extratrong>celltrong>ular space. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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stem trong>celltrong> inhibitory RNA transcript
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speedy/RINGO trong>celltrong> cycle regulator family member E13
Enables acetylcholine receptor regulator activity. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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speedy/RINGO trong>celltrong> cycle regulator family member E8
Enables acetylcholine receptor regulator activity. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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speedy/RINGO trong>celltrong> cycle regulator family member E14
Predicted to enable protein kinase binding activity. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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trong>celltrong> division cycle 50 P4-ATPase accessory subunit A
Enables aminophospholipid flippase activity and structural molecule activity. Involved in several processes, including phospholipid transport; positive regulation trong>oftrong> transport; and xenobiotic transmembrane transport. Located in endoplasmic reticulum and plasma membrane. Part trong>oftrong> early endosome membrane; late endosome membrane; and phospholipid-translocating ATPase complex. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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trong>celltrong> division cycle 50 P4-ATPase accessory subunit B
Enables aminophospholipid flippase activity. Involved in aminophospholipid transport and positive regulation trong>oftrong> protein exit from endoplasmic reticulum. Part trong>oftrong> phospholipid-translocating ATPase complex and plasma membrane. [provided by Alliance trong>oftrong> Genome Resources, Mar 2025]
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killer trong>celltrong> immunoglobulin-like receptor 2DL4-like
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