Harmonizome 3.0

RecQ mediated genome instability 2

RMI2 is a component of the BLM (RECQL3; MIM 604610) complex, which plays a role in homologous recombination-dependent DNA repair and is essential for genome stability (Xu et al., 2008 [PubMed 18923082]).[supplied by OMIM, Nov 2008]

DND microRNA-mediated repression inhibitrong>totrong>r 1

This gene encodes a protein that binds trong>totrong> microRNA-targeting sequences of mRNAs, inhibiting microRNA-mediated repression. Reduced expression of this gene has been implicated in trong>totrong>ngue squamous cell carcinoma. Two pseudogenes of this gene are located on the long arm of chromosome 17. [provided by RefSeq, Dec 2010]

SMG5 nonsense mediated mRNA decay factrong>totrong>r

SMG5 is involved in nonsense-mediated mRNA decay (Ohnishi et al., 2003 [PubMed 14636577]).[supplied by OMIM, Mar 2008]

SMG9 nonsense mediated mRNA decay factrong>totrong>r

This gene encodes a regulatrong>totrong>ry subunit of the SMG1 complex, which plays a critical role in nonsense-mediated mRNA decay (NMD). Binding of the encoded protein trong>totrong> the SMG1 complex kinase scaffold protein results in the inhibition of its kinase activity. Mutations in this gene cause a multiple congenital anomaly syndrome in human patients, characterized by brain malformation, congenital heart disease and other features. [provided by RefSeq, Jul 2016]

SMG7 nonsense mediated mRNA decay factrong>totrong>r

This gene encodes a protein that is essential for nonsense-mediated mRNA decay (NMD); a process whereby transcripts with premature termination codons are targeted for rapid degradation by a mRNA decay complex. The mRNA decay complex consists, in part, of this protein along with proteins SMG5 and UPF1. The N-terminal domain of this protein is thought trong>totrong> mediate its association with SMG5 or UPF1 while the C-terminal domain interacts with the mRNA decay complex. This protein may therefore couple changes in UPF1 phosphorylation state trong>totrong> the degradation of NMD-candidate transcripts. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2011]

SMG6 nonsense mediated mRNA decay factrong>totrong>r

This gene encodes a component of the telomerase ribonucleoprotein complex responsible for the replication and maintenance of chromosome ends. The encoded protein also plays a role in the nonsense-mediated mRNA decay (NMD) pathway, providing the endonuclease activity near the premature translation termination codon that is needed trong>totrong> initiate NMD. Alternatively spliced transcript variants encoding distinct protein isoforms have been described. [provided by RefSeq, Feb 2014]

SMG8 nonsense mediated mRNA decay factrong>totrong>r

Involved in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay and regulation of protein kinase activity. Predicted trong>totrong> be located in cytrong>totrong>sol. [provided by Alliance of Genome Resources, Mar 2025]

hyaluronan-mediated motility receptrong>totrong>r (RHAMM)

The protein encoded by this gene is involved in cell motility. It is expressed in breast tissue and trong>totrong>gether with other proteins, it forms a complex with BRCA1 and BRCA2, thus is potentially associated with higher risk of breast cancer. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Dec 2008]

RecQ mediated genome instability 1

Predicted trong>totrong> enable nucleotide binding activity. Involved in double-strand break repair via homologous recombination and resolution of DNA recombination intermediates. Located in nuclear body. Part of RecQ family helicase-trong>totrong>poisomerase III complex. [provided by Alliance of Genome Resources, Mar 2025]

SMG5 nonsense mediated mRNA decay factrong>totrong>r pseudogene

Alu-mediated CDKN1A/p21 transcriptional regulatrong>totrong>r (non-protein coding)

piwi-like RNA-mediated gene silencing 4

PIWIL4 belongs trong>totrong> the Argonaute family of proteins, which function in development and maintenance of germline stem cells (Sasaki et al., 2003 [PubMed 12906857]).[supplied by OMIM, Mar 2008]

piwi-like RNA-mediated gene silencing 3

This gene encodes a member of the PIWI subfamily of Argonaute family proteins. This subfamily of proteins contains a PAZ domain, found in proteins involved in RNA-mediated gene silencing, and a C-terminal Piwi domain. The encoded protein is thought trong>totrong> function in maintenance of germline cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

piwi-like RNA-mediated gene silencing 2

PIWIL2 belongs trong>totrong> the Argonaute family of proteins, which function in development and maintenance of germline stem cells (Sasaki et al., 2003 [PubMed 12906857]).[supplied by OMIM, Mar 2008]

piwi-like RNA-mediated gene silencing 1

This gene encodes a member of the PIWI subfamily of Argonaute proteins, evolutionarily conserved proteins containing both PAZ and Piwi motifs that play important roles in stem cell self-renewal, RNA silencing, and translational regulation in diverse organisms. The encoded protein may play a role as an intrinsic regulatrong>totrong>r of the self-renewal capacity of germline and hematrong>totrong>poietic stem cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

PTGS2 antisense NFKB1 complex-mediated expression regulatrong>totrong>r RNA

This gene represents transcription of a long non-coding RNA produced in antisense trong>totrong> the prostaglandin-endoperoxide synthase 2 (PTGS2) gene. This transcript interacts with NF-kB transcriptional regulatrong>totrong>rs trong>totrong> promote expression of PTGS2. [provided by RefSeq, Feb 2015]

natural killer cell trong>susceptibilitytrong> 1

Basal cell carcinoma, trong>susceptibilitytrong> trong>totrong>, 5

Basal cell carcinoma, trong>susceptibilitytrong> trong>totrong>, 6

Basal cell carcinoma, trong>susceptibilitytrong> trong>totrong>, 4

Basal cell carcinoma, trong>susceptibilitytrong> trong>totrong>, 1

Basal cell carcinoma, trong>susceptibilitytrong> trong>totrong>, 2

Basal cell carcinoma, trong>susceptibilitytrong> trong>totrong>, 3

testicular germ cell tumor trong>susceptibilitytrong> 1

Obesity, trong>susceptibilitytrong> trong>totrong>, on chromosome 4

Asperger syndrome, trong>susceptibilitytrong> trong>totrong>, 2

Asperger syndrome, trong>susceptibilitytrong> trong>totrong>, 3

Asperger syndrome, trong>susceptibilitytrong> trong>totrong>, 4

Dermatitis, atrong>totrong>pic, trong>susceptibilitytrong> trong>totrong>, 7

Endometriosis, trong>susceptibilitytrong> trong>totrong>, 1

Hypertension, essential, trong>susceptibilitytrong> trong>totrong>, 3

Hypertension, essential, trong>susceptibilitytrong> trong>totrong>, 5

Hypertension, essential, trong>susceptibilitytrong> trong>totrong>, 4

Hypertension, essential, trong>susceptibilitytrong> trong>totrong>, 7

Hypertension, essential, trong>susceptibilitytrong> trong>totrong>, 6

hypertension, essential, trong>susceptibilitytrong> trong>totrong>, 8

Migraine with aura, trong>susceptibilitytrong> trong>totrong>, 7

Migraine with aura, trong>susceptibilitytrong> trong>totrong>, 9

Graves disease, trong>susceptibilitytrong> trong>totrong>, 2

Graves disease, trong>susceptibilitytrong> trong>totrong>, X-linked

Epilepsy, idiopathic generalized, trong>susceptibilitytrong> trong>totrong> 4

prostate cancer trong>susceptibilitytrong> candidate 2

This gene is highly expressed in prostate, rectum, colon, and testis. This gene may produce a non-coding RNA or may encode a short protein that might localize trong>totrong> the nucleus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

prostate cancer trong>susceptibilitytrong> candidate 1

This gene is reported trong>totrong> be specifically expressed in prostate, rectum and distal colon. Sequence analysis suggests that it may play a regulatrong>totrong>ry role in the nucleus. [provided by RefSeq, Jul 2008]

Sarcoidosis, trong>susceptibilitytrong> trong>totrong>, 3

Obesity, trong>susceptibilitytrong> trong>totrong>, on chromosome 10q

psoriasis trong>susceptibilitytrong> 9

psoriasis trong>susceptibilitytrong> 8

psoriasis trong>susceptibilitytrong> 7

psoriasis trong>susceptibilitytrong> 6

psoriasis trong>susceptibilitytrong> 5

psoriasis trong>susceptibilitytrong> 4

psoriasis trong>susceptibilitytrong> 3

Celiac disease, trong>susceptibilitytrong> trong>totrong>, 8

Celiac disease, trong>susceptibilitytrong> trong>totrong>, 5

Celiac disease, trong>susceptibilitytrong> trong>totrong>, 6

Celiac disease, trong>susceptibilitytrong> trong>totrong>, 7

autrong>totrong>immune trong>susceptibilitytrong> 3 (vitiligo specific)

autrong>totrong>immune trong>susceptibilitytrong> 2

autrong>totrong>immune trong>susceptibilitytrong> 1

autrong>totrong>immune disease, trong>susceptibilitytrong> trong>totrong>, 4

Systemic lupus erythematrong>totrong>sus, trong>susceptibilitytrong> trong>totrong>, 13

Systemic lupus erythematrong>totrong>sus, trong>susceptibilitytrong> trong>totrong>, 12

Systemic lupus erthematrong>totrong>sus, trong>susceptibilitytrong> trong>totrong>, 15

hearing loss, cisplatin-induced, trong>susceptibilitytrong> trong>totrong>

immunoglobulin A (IgA) deficiency trong>susceptibilitytrong> 1

Osteoarthritis, generalized, without dysplasia, trong>susceptibilitytrong> trong>totrong>

Osteoarthritis trong>susceptibilitytrong> 6

cancer trong>susceptibilitytrong> candidate 4 pseudogene 1

Neuroblastrong>totrong>ma, trong>susceptibilitytrong> trong>totrong>, 5

Neuroblastrong>totrong>ma, trong>susceptibilitytrong> trong>totrong>, 4

Neuroblastrong>totrong>ma, trong>susceptibilitytrong> trong>totrong>, 6

Major affective disorder-9, trong>susceptibilitytrong> trong>totrong>

Major affective disorder-8, trong>susceptibilitytrong> trong>totrong>

IgA nephropathy, trong>susceptibilitytrong> trong>totrong>, 2

Autism, trong>susceptibilitytrong> trong>totrong>, 6

Autism, trong>susceptibilitytrong> trong>totrong>, 7

Autism, trong>susceptibilitytrong> trong>totrong>, 5

autism trong>susceptibilitytrong> candidate 2

This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in this gene have also been associated with non-neurological disorders, such as acute lymphoblastic leukemia, aging of the skin, early-onset androgenetic alopecia, and certain cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014]

Autism, trong>susceptibilitytrong> trong>totrong>, 3

Autism, trong>susceptibilitytrong> trong>totrong>, 1

Autism, trong>susceptibilitytrong> trong>totrong>, 8

Epilepsy, idiopathic generalized, trong>susceptibilitytrong> trong>totrong> 3

Epilepsy, idiopathic generalized, trong>susceptibilitytrong> trong>totrong> 2

cancer trong>susceptibilitytrong> candidate 2 (non-protein coding)

Involved in defense response trong>totrong> tumor cell; negative regulation of MAPK cascade; and positive regulation of cysteine-type endopeptidase activity. [provided by Alliance of Genome Resources, Mar 2025]

cancer trong>susceptibilitytrong> candidate 1

Predicted trong>totrong> enable beta-tubulin binding activity and microtubule binding activity. Predicted trong>totrong> be located in cilium and microtubule cytrong>totrong>skeletrong>totrong>n. Predicted trong>totrong> be part of axonemal dynein complex. Predicted trong>totrong> be active in axoneme and cytrong>totrong>plasmic microtubule. [provided by Alliance of Genome Resources, Mar 2025]

cancer trong>susceptibilitytrong> candidate 6 (non-protein coding)

cancer trong>susceptibilitytrong> candidate 5

The protein encoded by this gene is a component of the multiprotein assembly that is required for creation of kinetrong>totrong>chore-microtubule attachments and chromosome segregation. The encoded protein functions as a scaffold for proteins that influence the spindle assembly checkpoint during the eukaryotic cell cycle and it interacts with at least five different kinetrong>totrong>chore proteins and two checkpoint kinases. In adults, this gene is predominantly expressed in normal testes, various cancer cell lines and primary tumors from other tissues and is ubiquitrong>totrong>usly expressed in fetal tissues. This gene was originally identified as a fusion partner with the mixed-lineage leukemia (MLL) gene in t(11;15)(q23;q14). Mutations in this gene cause autrong>totrong>somal recessive primary microcephaly-4 (MCPH4). Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jan 2013]

cancer trong>susceptibilitytrong> candidate 4

The increased expression level of this gene is associated with HER-2/neu protrong>totrong>-oncogene overexpression. Amplification and resulting overexpression of this protrong>totrong>-oncogene are found in approximately 30% of human breast and 20% of human ovarian cancers. Alternatively spliced variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Dec 2010]

cancer trong>susceptibilitytrong> candidate 8 (non-protein coding)

Hypertension, essential, trong>susceptibilitytrong> trong>totrong>, 1

Hypertension, essential, trong>susceptibilitytrong> trong>totrong>, 2

cancer trong>susceptibilitytrong> candidate 18 (non-protein coding)

Attention deficit-hyperactivity disorder, trong>susceptibilitytrong> trong>totrong>, 2

Leukemia, chronic lymphocytic, trong>susceptibilitytrong> trong>totrong>, 1

autism trong>susceptibilitytrong> gene 2 protein-like

Asthma-related traits, trong>susceptibilitytrong> trong>totrong>, 8

Ovarian cancer, epithelial, trong>susceptibilitytrong> trong>totrong>

otitis media, trong>susceptibilitytrong> trong>totrong>

Epilepsy, idiopathic generalized, trong>susceptibilitytrong> trong>totrong>, 5

Kala-azar (visceral leishmaniasis), trong>susceptibilitytrong> trong>totrong>

Kala-azar, trong>susceptibilitytrong> trong>totrong>, 2

Kala-azar, trong>susceptibilitytrong> trong>totrong>, 3

dyslexia trong>susceptibilitytrong> 5

psoriasis trong>susceptibilitytrong> 1 candidate 1

This gene is one of several genes thought trong>totrong> confer trong>susceptibilitytrong> trong>totrong> psoriasis and systemic sclerosis, located on chromosome 6 near the major histrong>totrong>compatibility complex (MHC) class I region. [provided by RefSeq, Sep 2011]

psoriasis trong>susceptibilitytrong> 1 candidate 3 (non-protein coding)

psoriasis trong>susceptibilitytrong> 1 candidate 2

Predicted trong>totrong> be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

Autism, trong>susceptibilitytrong> trong>totrong>, 11

autism, trong>susceptibilitytrong> trong>totrong>, 12

autism, trong>susceptibilitytrong> trong>totrong>, 13

Prostate cancer, trong>susceptibilitytrong> trong>totrong>

Mycobacterium tuberculosis, trong>susceptibilitytrong> trong>totrong>, 3

Mycobacterium tuberculosis, trong>susceptibilitytrong> trong>totrong>, 2

mycobacterium tuberculosis, trong>susceptibilitytrong> trong>totrong> infection by, 1

Mycobacterium tuberculosis, trong>susceptibilitytrong> trong>totrong> infection by

cancer trong>susceptibilitytrong> candidate 3

The product of this gene is a core component of the exon junction complex (EJC), a protein complex that is deposited on spliced mRNAs at exon-exon junctions and functions in nonsense-mediated mRNA decay (NMD). The encoded protein binds RNA and interacts with two other EJC core components. It is predominantly located in the cytrong>totrong>plasm, but shuttles introng>totrong> the nucleus where it localizes trong>totrong> nuclear speckles. [provided by RefSeq, Jul 2008]

cancer trong>susceptibilitytrong> candidate 7 (non-protein coding)

cancer trong>susceptibilitytrong> candidate 9 (non-protein coding)

Coronary heart disease, trong>susceptibilitytrong> trong>totrong>, 4

Leukemia, chronic lymphocytic, trong>susceptibilitytrong> trong>totrong>, 3

cancer trong>susceptibilitytrong> candidate 11 (non-protein coding)

Enables chromatin-protein adaptrong>totrong>r activity and promoter-enhancer loop anchoring activity. Involved in chromatin looping and positive regulation of transcription by RNA polymerase II. Is active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

cancer trong>susceptibilitytrong> candidate 10

cancer trong>susceptibilitytrong> candidate 17 (non-protein coding)

cancer trong>susceptibilitytrong> candidate 16 (non-protein coding)

cancer trong>susceptibilitytrong> candidate 15 (non-protein coding)

This gene produces a long non-coding RNA that may regulate cell proliferation. This RNA is upregulated in hepatrong>totrong>cellular carcinoma, where it is thought trong>totrong> function as an oncogene. However, some splice variants of this gene may function as a tumor suppressor in neuroblastrong>totrong>ma and other tumor types. Circular RNA variants were observed at this gene. [provided by RefSeq, Dec 2017]

cancer trong>susceptibilitytrong> candidate 19 (non-protein coding)

Attention deficit-hyperactivity disorder, trong>susceptibilitytrong> trong>totrong>, 4

Attention deficit-hyperactivity disorder, trong>susceptibilitytrong> trong>totrong>, 5

Attention deficit-hyperactivity disorder, trong>susceptibilitytrong> trong>totrong>, 6

Attention deficit-hyperactivity disorder, trong>susceptibilitytrong> trong>totrong>, 1

Attention deficit-hyperactivity disorder, trong>susceptibilitytrong> trong>totrong>, 2

Asthma and obesity trong>susceptibilitytrong>, chromosome 16p11 inversion related

Bulimia nervosa, trong>susceptibilitytrong> trong>totrong>

Leukemia, acute lymphoblastic, trong>susceptibilitytrong> trong>totrong>, 2

Glioma trong>susceptibilitytrong> 6

Glioma trong>susceptibilitytrong> 7

Glioma trong>susceptibilitytrong> 5

Glioma trong>susceptibilitytrong> 8

Strabismus, trong>susceptibilitytrong> trong>totrong>, 1

scoliosis, idiopathic, trong>susceptibilitytrong> trong>totrong>, 5

Scoliosis, idiopathic, trong>susceptibilitytrong> trong>totrong>, 4

Colorectal cancer, trong>susceptibilitytrong> trong>totrong>, 10

Colorectal cancer, trong>susceptibilitytrong> trong>totrong>, 11

Nasopharyngeal carcinoma, trong>susceptibilitytrong> trong>totrong>, 2

Hepatic fibrosis trong>susceptibilitytrong> due trong>totrong> Schistrong>totrong>soma mansoni infection

Schistrong>totrong>soma mansoni, trong>susceptibilitytrong>/resistance trong>totrong>

Podoconiosis, trong>susceptibilitytrong> trong>totrong>

Pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, trong>susceptibilitytrong> trong>totrong>

autism, trong>susceptibilitytrong> trong>totrong>, 14

bladder tumor trong>susceptibilitytrong> 1

papillary thyroid carcinoma trong>susceptibilitytrong> candidate 1 (non-protein coding)

papillary thyroid carcinoma trong>susceptibilitytrong> candidate 3 (non-protein coding)

cancer trong>susceptibilitytrong> candidate 23 (non-protein coding)

cancer trong>susceptibilitytrong> candidate 22 (non-protein coding)

cancer trong>susceptibilitytrong> candidate 20 (non-protein coding)

cancer trong>susceptibilitytrong> candidate 21 (non-protein coding)

Colorectal cancer, trong>susceptibilitytrong> trong>totrong>, 8

colorectal cancer, trong>susceptibilitytrong> trong>totrong>, 9

Colorectal cancer, trong>susceptibilitytrong> trong>totrong>, 2

Colorectal cancer, trong>susceptibilitytrong> trong>totrong>, 5

?Membranous nephropathy, trong>susceptibilitytrong> trong>totrong>

Fatty liver disease, nonalcoholic, trong>susceptibilitytrong> trong>totrong>, 2

Anorexia nervosa, trong>susceptibilitytrong> trong>totrong>, 1

Melanoma, cutaneous malignant, trong>susceptibilitytrong> trong>totrong>, 7

Lung cancer trong>susceptibilitytrong> 3

Lung cancer trong>susceptibilitytrong> 4

Lung cancer trong>susceptibilitytrong> 5

Leukemia, chronic lymphocytic trong>susceptibilitytrong> trong>totrong>, 4

Autrong>totrong>immune thyroid disease, trong>susceptibilitytrong> trong>totrong>, 2

Autrong>totrong>immune thyroid disease, trong>susceptibilitytrong> trong>totrong>, 1

Autrong>totrong>immune thyroid disease, trong>susceptibilitytrong> trong>totrong>, 4

Asthma-related traits, trong>susceptibilitytrong> trong>totrong>, 6

Asthma-related traits, trong>susceptibilitytrong> trong>totrong>, 4

Multiple sclerosis, trong>susceptibilitytrong> trong>totrong>, 3

Multiple sclerosis, trong>susceptibilitytrong> trong>totrong>, 2

dyslexia trong>susceptibilitytrong> 9

dyslexia trong>susceptibilitytrong> 8

malignant hyperthermia trong>susceptibilitytrong> 6

malignant hyperthermia trong>susceptibilitytrong> 4

malignant hyperthermia trong>susceptibilitytrong> 2

Malignant hyperthermia trong>susceptibilitytrong> 3

Migraine, familial typical, trong>susceptibilitytrong> trong>totrong>

Migraine, familial, with or without aura, trong>susceptibilitytrong> trong>totrong>

Migraine with aura, trong>susceptibilitytrong> trong>totrong>

Migraine with or without aura, trong>susceptibilitytrong> trong>totrong>, 5

Migraine, trong>susceptibilitytrong> trong>totrong>, 8

tumor trong>susceptibilitytrong> 101

The protein encoded by this gene belongs trong>totrong> a group of apparently inactive homologs of ubiquitin-conjugating enzymes. The gene product contains a coiled-coil domain that interacts with stathmin, a cytrong>totrong>solic phosphoprotein implicated in tumorigenesis. The protein may play a role in cell growth and differentiation and act as a negative growth regulatrong>totrong>r. In vitro steady-state expression of this tumor trong>susceptibilitytrong> gene appears trong>totrong> be important for maintenance of genomic stability and cell cycle regulation. Mutations and alternative splicing in this gene occur in high frequency in breast cancer and suggest that defects occur during breast cancer tumorigenesis and/or progression. [provided by RefSeq, Jul 2008]

Hodgkin disease, trong>susceptibilitytrong>, pseudoautrong>totrong>somal

Asperger syndrome, trong>susceptibilitytrong> trong>totrong>, 1

schizophrenia, trong>susceptibilitytrong> trong>totrong>, 14

Schizophrenia trong>susceptibilitytrong> locus, chromosome 10q-related

esophagus cancer-related gene-2 interaction trong>susceptibilitytrong> protein

Opioid dependence, trong>susceptibilitytrong> trong>totrong>, 1

Parkinson disease 16 (trong>susceptibilitytrong>)

Parkinson disease 10 (trong>susceptibilitytrong>)

Parkinson disease 12 (trong>susceptibilitytrong>)

Patent ductus arteriosus, trong>susceptibilitytrong> trong>totrong>

Leprosy, trong>susceptibilitytrong> trong>totrong> 1

colorectal cancer, trong>susceptibilitytrong> trong>totrong>, 6

Malignant mesothelioma, trong>susceptibilitytrong> trong>totrong>

dyslexia trong>susceptibilitytrong> 1 candidate 1

This gene encodes a tetratricopeptide repeat domain-containing protein. The encoded protein interacts with estrogen receptrong>totrong>rs and the heat shock proteins, Hsp70 and Hsp90. An homologous protein in rat has been shown trong>totrong> function in neuronal migration in the developing neocortex. A chromosomal translocation involving this gene is associated with a trong>susceptibilitytrong> trong>totrong> developmental dyslexia. Mutations in this gene are associated with deficits in reading and spelling. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream cell cycle progression 1 (CCPG1) gene. [provided by RefSeq, Mar 2011]

Migraine, trong>susceptibilitytrong> trong>totrong>, 4

Hirschsprung disease, trong>susceptibilitytrong> trong>totrong>, 9

Hirschsprung disease, trong>susceptibilitytrong> trong>totrong>, 5

The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal trong>totrong> the sigmoid. trong>Totrong>tal colonic aganglionosis and trong>totrong>tal intestinal HSCR also occur (Amiel et al., 2008 [PubMed 17965226]). Isolated HSCR appears trong>totrong> be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according trong>totrong> the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008 [PubMed 17965226]). For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see MIM 142623.[supplied by OMIM, Feb 2011]

papillary thyroid carcinoma trong>susceptibilitytrong> candidate 2 (non-protein coding)

dyslexia trong>susceptibilitytrong> 1

dyslexia trong>susceptibilitytrong> 3

dyslexia trong>susceptibilitytrong> 4

dyslexia trong>susceptibilitytrong> 7

dyslexia trong>susceptibilitytrong> 6

Follicular lymphoma, trong>susceptibilitytrong> trong>totrong>, 1

Autism, X-linked, trong>susceptibilitytrong> trong>totrong>, 4

Asthma-related traits, trong>susceptibilitytrong> trong>totrong>, 3

Restless legs syndrome, trong>susceptibilitytrong> trong>totrong>

Restless legs syndrome, trong>susceptibilitytrong> trong>totrong>, 6

Restless legs syndrome, trong>susceptibilitytrong> trong>totrong>, 5

Restless legs syndrome, trong>susceptibilitytrong> trong>totrong>, 8

Celiac disease, trong>susceptibilitytrong> trong>totrong>, 9

Leukemia, acute lymphocytic, trong>susceptibilitytrong> trong>totrong>, 1

Leber optic atrophy, trong>susceptibilitytrong> trong>totrong>

systemic lupus erythematrong>totrong>sus, trong>susceptibilitytrong> trong>totrong>, 4

Melanoma, uveal, trong>susceptibilitytrong> trong>totrong>, 2

Melanoma, uveal, trong>susceptibilitytrong> trong>totrong>, 1

age-related maculopathy trong>susceptibilitytrong> 2

This gene encodes a small secreted protein specific trong>totrong> primates. This protein is a component of the choroidal extracellular matrix of the eye. Mutations in this gene are associated with age-related macular degeneration. [provided by RefSeq, Sep 2017]

atherosclerosis trong>susceptibilitytrong> (lipoprotein associated)

Macroglobulinemia, Waldenstrom, trong>susceptibilitytrong> trong>totrong>, 2

Chronic mountain sickness, trong>susceptibilitytrong> trong>totrong>

Coronary heart disease, trong>susceptibilitytrong> trong>totrong>, 3

Coronary heart disease, trong>susceptibilitytrong> trong>totrong>, 2

Coronary heart disease, trong>susceptibilitytrong> trong>totrong>, 1

Coronary heart disease, trong>susceptibilitytrong> trong>totrong>, 8

Human herpesvirus 8, trong>susceptibilitytrong> trong>totrong>

Diabetes mellitus, insulin-dependent, X-linked, trong>susceptibilitytrong> trong>totrong>

Systemic lupus erythematrong>totrong>sus, trong>susceptibilitytrong> trong>totrong>, 5

Systemic lupus erythematrong>totrong>sus, trong>susceptibilitytrong> trong>totrong>, 8

Psoriasis trong>susceptibilitytrong> 11

psoriasis trong>susceptibilitytrong> 10

Spondylarthropathy, trong>susceptibilitytrong> trong>totrong>, 3

Spondyloarthropathy, trong>susceptibilitytrong> trong>totrong>, 2

Migraine, with or without aura, trong>susceptibilitytrong> trong>totrong>, 12

Macroglobulinemia, Waldenstrom, trong>susceptibilitytrong> trong>totrong>, 1

colorectal cancer, trong>susceptibilitytrong> trong>totrong>, 7

Celiac disease, trong>susceptibilitytrong> trong>totrong>, 12

Celiac disease, trong>susceptibilitytrong> trong>totrong>, 13

Celiac disease, trong>susceptibilitytrong> trong>totrong>, 10

Celiac disease, trong>susceptibilitytrong> trong>totrong>, 11

Pelvic organ prolapse, trong>susceptibilitytrong> trong>totrong>, 1

Pelvic organ prolapse, trong>susceptibilitytrong> trong>totrong>, 2

systemic lupus erythematrong>totrong>sus trong>susceptibilitytrong> 3

Systemic lupus erythematrong>totrong>sus, trong>susceptibilitytrong> trong>totrong>, 7

cytrong>totrong>trong>totrong>xic and regulatrong>totrong>ry T cell molecule

The CRTAM gene is upregulated in CD4 (see MIM 186940)-positive and CD8 (see CD8A; MIM 186910)-positive T cells and encodes a type I transmembrane protein with V and C1-like Ig domains (Yeh et al., 2008 [PubMed 18329370]).[supplied by OMIM, Feb 2009]

marginal zone B and B1 cell-specific protein

Involved in positive regulation of cell population proliferation. Located in cytrong>totrong>plasm and extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

speedy/RINGO cell cycle regulatrong>totrong>r family member E12, pseudogene

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

cell cycle exit and neuronal differentiation protein 1-like

cell division cycle 27 pseudogene 10

cell division cycle 27 pseudogene 11

cell division cycle associated 8 pseudogene

B-cell translocation gene 4

The protein encoded by this gene is a member of the BTG/trong>Totrong>b family. This family has structurally related proteins that appear trong>totrong> have antiproliferative properties. This encoded protein can induce G1 arrest in the cell cycle. [provided by RefSeq, Jul 2008]

B-cell translocation gene 1, anti-proliferative

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

T cell receptrong>totrong>r alpha variable 23/delta variable 6

T cell receptrong>totrong>rs recognize foreign antigens which have been processed as small peptides and bound trong>totrong> major histrong>totrong>compatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptrong>totrong>r is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptrong>totrong>r loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds trong>totrong> rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptrong>totrong>r alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined trong>totrong> the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known trong>totrong> be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

putative glycine-rich cell wall structural protein 1

mediatrong>totrong>r of cell motility 1 pseudogene 4

mediatrong>totrong>r of cell motility 1 pseudogene 2

mediatrong>totrong>r of cell motility 1 pseudogene 3

programmed cell death 6 pseudogene

myeloid cell leukemia 1

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

T cell receptrong>totrong>r beta joining 2-4

Predicted trong>totrong> be involved in adaptive immune response. Predicted trong>totrong> be located in plasma membrane. Predicted trong>totrong> be part of T cell receptrong>totrong>r complex. [provided by Alliance of Genome Resources, Mar 2025]

T cell receptrong>totrong>r beta joining 2-5

Predicted trong>totrong> be involved in adaptive immune response. Predicted trong>totrong> be located in plasma membrane. Predicted trong>totrong> be part of T cell receptrong>totrong>r complex. [provided by Alliance of Genome Resources, Mar 2025]

T cell receptrong>totrong>r beta joining 2-6

Predicted trong>totrong> be involved in adaptive immune response. Predicted trong>totrong> be located in plasma membrane. Predicted trong>totrong> be part of T cell receptrong>totrong>r complex. [provided by Alliance of Genome Resources, Mar 2025]

T cell receptrong>totrong>r beta joining 2-7

Predicted trong>totrong> be involved in adaptive immune response. Predicted trong>totrong> be located in plasma membrane. Predicted trong>totrong> be part of T cell receptrong>totrong>r complex. [provided by Alliance of Genome Resources, Mar 2025]

T cell receptrong>totrong>r beta joining 2-1

Predicted trong>totrong> be involved in adaptive immune response. Predicted trong>totrong> be located in plasma membrane. Predicted trong>totrong> be part of T cell receptrong>totrong>r complex. [provided by Alliance of Genome Resources, Mar 2025]

T cell receptrong>totrong>r beta joining 2-2

Predicted trong>totrong> be involved in adaptive immune response. Predicted trong>totrong> be located in plasma membrane. Predicted trong>totrong> be part of T cell receptrong>totrong>r complex. [provided by Alliance of Genome Resources, Mar 2025]

T cell receptrong>totrong>r beta joining 2-3

Predicted trong>totrong> be involved in adaptive immune response. Predicted trong>totrong> be located in plasma membrane. Predicted trong>totrong> be part of T cell receptrong>totrong>r complex. [provided by Alliance of Genome Resources, Mar 2025]

cell cycle exit and neuronal differentiation 1

The protein encoded by this gene is a neuron-specific protein. The similar protein in pig enhances neuroblastrong>totrong>ma cell differentiation in vitro and may be involved in neuronal differentiation in vivo. Multiple pseudogenes have been reported for this gene. [provided by RefSeq, Jul 2008]

proliferating cell nuclear antigen

The protein encoded by this gene is found in the nucleus and is a cofactrong>totrong>r of DNA polymerase delta. The encoded protein acts as a homotrimer and helps increase the processivity of leading strand synthesis during DNA replication. In response trong>totrong> DNA damage, this protein is ubiquitinated and is involved in the RAD6-dependent DNA repair pathway. Two transcript variants encoding the same protein have been found for this gene. Pseudogenes of this gene have been described on chromosome 4 and on the X chromosome. [provided by RefSeq, Jul 2008]

BOC cell adhesion associated, oncogene regulated

The protein encoded by this gene is a member of the immunoglobulin/fibronectin type III repeat family. It is a component of a cell-surface receptrong>totrong>r complex that mediates cell-cell interactions between muscle precursor cells, and promotes myogenic differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]

T cell receptrong>totrong>r beta variable 20-1

Predicted trong>totrong> be involved in cell surface receptrong>totrong>r signaling pathway. Predicted trong>totrong> be part of T cell receptrong>totrong>r complex. Predicted trong>totrong> be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

cell adhesion associated, oncogene regulated pseudogene

cell division cycle 34

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

cell division cycle 37

The protein encoded by this gene is highly similar trong>totrong> Cdc 37, a cell division cycle control protein of Sacchromyces cerevisiae. This protein is a molecular chaperone with specific function in cell signal transduction. It has been shown trong>totrong> form complex with Hsp90 and a variety of protein kinases including CDK4, CDK6, SRC, RAF-1, MOK, as well as eIF2 alpha kinases. It is thought trong>totrong> play a critical role in directing Hsp90 trong>totrong> its target kinases. [provided by RefSeq, Jul 2008]

B-cell CLL/lymphoma 9

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

B-cell CLL/lymphoma 5

B-cell CLL/lymphoma 6

The protein encoded by this gene is a zinc finger transcription factrong>totrong>r and contains an N-terminal POZ domain. This protein acts as a sequence-specific repressor of transcription, and has been shown trong>totrong> modulate the transcription of STAT-dependent IL-4 responses of B cells. This protein can interact with a variety of POZ-containing proteins that function as transcription corepressors. This gene is found trong>totrong> be frequently translocated and hypermutated in diffuse large-cell lymphoma (DLCL), and may be involved in the pathogenesis of DLCL. Alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Aug 2015]

B-cell CLL/lymphoma 3

This gene is a protrong>totrong>-oncogene candidate. It is identified by its translocation introng>totrong> the immunoglobulin alpha-locus in some cases of B-cell leukemia. The protein encoded by this gene contains seven ankyrin repeats, which are most closely related trong>totrong> those found in I kappa B proteins. This protein functions as a transcriptional co-activatrong>totrong>r that activates through its association with NF-kappa B homodimers. The expression of this gene can be induced by NF-kappa B, which forms a part of the autrong>totrong>regulatrong>totrong>ry loop that controls the nuclear residence of p50 NF-kappa B. [provided by RefSeq, Jul 2008]

B-cell CLL/lymphoma 2

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

histrong>totrong>ne cell cycle regulatrong>totrong>r

This gene encodes a histrong>totrong>ne chaperone that preferentially places the variant histrong>totrong>ne H3.3 in nucleosomes. Orthologs of this gene in yeast, flies, and plants are necessary for the formation of transcriptionally silent heterochomatin. This gene plays an important role in the formation of the senescence-associated heterochromatin foci. These foci likely mediate the irreversible cell cycle changes that occur in senescent cells. It is considered the primary candidate gene in some haploinsufficiency syndromes such as DiGeorge syndrome, and insufficient production of the gene may disrupt normal embryonic development. [provided by RefSeq, Jul 2008]

T cell receptrong>totrong>r alpha joining 32

T cell receptrong>totrong>rs recognize foreign antigens which have been processed as small peptides and bound trong>totrong> major histrong>totrong>compatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptrong>totrong>r is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptrong>totrong>r loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds trong>totrong> rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptrong>totrong>r alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined trong>totrong> the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known trong>totrong> be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

insulin-like 3 (Leydig cell)

This gene encodes a member of the insulin-like hormone superfamily. The encoded protein is mainly produced in gonadal tissues. Studies of the mouse counterpart suggest that this gene may be involved in the development of urogenital tract and female fertility. This protein may also act as a hormone trong>totrong> regulate growth and differentiation of gubernaculum, and thus mediating intra-abdominal testicular descent. Mutations in this gene may lead trong>totrong> cryptrong>totrong>rchidism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]

killer cell immunoglobulin-like receptrong>totrong>r 3DL1

killer cell immunoglobulin-like receptrong>totrong>r, three domains, X1

Predicted trong>totrong> be involved in immune response-regulating signaling pathway. Predicted trong>totrong> be located in extracellular region. Predicted trong>totrong> be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

myeloid cell nuclear differentiation antigen

The myeloid cell nuclear differentiation antigen (MNDA) is detected only in nuclei of cells of the granulocyte-monocyte lineage. A 200-amino acid region of human MNDA is strikingly similar trong>totrong> a region in the proteins encoded by a family of interferon-inducible mouse genes, designated Ifi-201, Ifi-202, and Ifi-203, that are not regulated in a cell- or tissue-specific fashion. The 1.8-kb MNDA mRNA, which contains an interferon-stimulated response element in the 5-prime untranslated region, was significantly upregulated in human monocytes exposed trong>totrong> interferon alpha. MNDA is located within 2,200 kb of FCER1A, APCS, CRP, and SPTA1. In its pattern of expression and/or regulation, MNDA resembles IFI16, suggesting that these genes participate in blood cell-specific responses trong>totrong> interferons. [provided by RefSeq, Jul 2008]

T cell receptrong>totrong>r gamma joining 2

T cell receptrong>totrong>r gamma joining 1

Predicted trong>totrong> be involved in adaptive immune response. Predicted trong>totrong> be located in plasma membrane. Predicted trong>totrong> be part of T cell receptrong>totrong>r complex. [provided by Alliance of Genome Resources, Mar 2025]

T cell receptrong>totrong>r gamma joining P

T cell receptrong>totrong>r beta variable 6-8

Predicted trong>totrong> be involved in cell surface receptrong>totrong>r signaling pathway. Predicted trong>totrong> be part of T cell receptrong>totrong>r complex. Predicted trong>totrong> be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

T cell receptrong>totrong>r beta variable 6-9

Predicted trong>totrong> be involved in cell surface receptrong>totrong>r signaling pathway. Predicted trong>totrong> be part of T cell receptrong>totrong>r complex. Predicted trong>totrong> be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

T cell receptrong>totrong>r beta variable 6-5

Predicted trong>totrong> be involved in cell surface receptrong>totrong>r signaling pathway. Predicted trong>totrong> be part of T cell receptrong>totrong>r complex. Predicted trong>totrong> be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

T cell receptrong>totrong>r beta variable 6-6

Predicted trong>totrong> be involved in cell surface receptrong>totrong>r signaling pathway. Predicted trong>totrong> be part of T cell receptrong>totrong>r complex. Predicted trong>totrong> be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

T cell receptrong>totrong>r beta variable 6-7 (non-functional)

Predicted trong>totrong> be involved in cell surface receptrong>totrong>r signaling pathway. Predicted trong>totrong> be part of T cell receptrong>totrong>r complex. Predicted trong>totrong> be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

T cell receptrong>totrong>r beta variable 6-2 (gene/pseudogene)

Predicted trong>totrong> be involved in cell surface receptrong>totrong>r signaling pathway. Predicted trong>totrong> be part of T cell receptrong>totrong>r complex. Predicted trong>totrong> be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

T cell receptrong>totrong>r beta variable 6-3

Predicted trong>totrong> be involved in cell surface receptrong>totrong>r signaling pathway. Predicted trong>totrong> be part of T cell receptrong>totrong>r complex. Predicted trong>totrong> be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

proliferating cell nuclear antigen pseudogene 1

proliferating cell nuclear antigen pseudogene 4

T cell receptrong>totrong>r beta constant 1

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

T cell receptrong>totrong>r beta constant 2

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

T cell receptrong>totrong>r beta variable 21-1 (pseudogene)

cell death-inducing p53 target 1

Predicted trong>totrong> enable zinc ion binding activity. Acts upstream of or within intrinsic apoptrong>totrong>tic signaling pathway in response trong>totrong> DNA damage by p53 class mediatrong>totrong>r. Located in cytrong>totrong>plasmic side of late endosome membrane; cytrong>totrong>plasmic side of lysosomal membrane; and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

cell division cycle associated 8 pseudogene

scribbled planar cell polarity protein

This gene encodes a protein that was identified as being similar trong>totrong> the Drosophila scribble protein. The mammalian protein is involved in tumor suppression pathways. As a scaffold protein involved in cell polarization processes, this protein binds trong>totrong> many other proteins. The encoded protein binds trong>totrong> papillomavirus E6 protein via its PDZ domain and the C-terminus of E6. Two alternatively spliced transcript variants that encode different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

T-cell activation RhoGTPase activating protein

This gene encodes a member of the Rho GTPase-activatrong>totrong>r protein superfamily. The encoded protein may function as a Rho GTPase-activating protein. Alterations in this gene may be associated with several diseases, including rheumatrong>totrong>id arthritis, celiac disease, and multiple sclerosis. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2013]

neuronal cell adhesion molecule

Cell adhesion molecules (CAMs) are members of the immunoglobulin superfamily. This gene encodes a neuronal cell adhesion molecule with multiple immunoglobulin-like C2-type domains and fibronectin type-III domains. This ankyrin-binding protein is involved in neuron-neuron adhesion and promotes directional signaling during axonal cone growth. This gene is also expressed in non-neural tissues and may play a general role in cell-cell communication via signaling from its intracellular domain trong>totrong> the actin cytrong>totrong>skeletrong>totrong>n during directional cell migration. Allelic variants of this gene have been associated with autism and addiction vulnerability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

mediatrong>totrong>r of cell motility 1 pseudogene 1

defensin, alpha 6, Paneth cell-specific

Defensins are a family of antimicrobial and cytrong>totrong>trong>totrong>xic peptides thought trong>totrong> be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratrong>totrong>ry tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes appear trong>totrong> be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 6, is highly expressed in the secretrong>totrong>ry granules of Paneth cells of the small intestine, and likely plays a role in host defense of human bowel. [provided by RefSeq, Oct 2014]

defensin, alpha 5, Paneth cell-specific

Defensins are a family of antimicrobial and cytrong>totrong>trong>totrong>xic peptides thought trong>totrong> be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratrong>totrong>ry tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several of the alpha defensin genes appear trong>totrong> be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 5, is highly expressed in the secretrong>totrong>ry granules of Paneth cells of the ileum. [provided by RefSeq, Oct 2014]

T cell receptrong>totrong>r beta variable 23/OR9-2 (non-functional)

programmed cell death 1 ligand 2

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

downregulated RNA in cancer, inhibitrong>totrong>r of cell invasion and migration

T cell receptrong>totrong>r beta variable 30 (gene/pseudogene)

Predicted trong>totrong> be involved in cell surface receptrong>totrong>r signaling pathway. Predicted trong>totrong> be part of T cell receptrong>totrong>r complex. Predicted trong>totrong> be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

T-cell leukemia translocation altered

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

Sertrong>totrong>li cell-only syndrome, Y-linked

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

zyg-11 family member B, cell cycle regulatrong>totrong>r

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

zyg-11 family member A, cell cycle regulatrong>totrong>r

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

T cell receptrong>totrong>r beta variable 3-1

Predicted trong>totrong> be involved in cell surface receptrong>totrong>r signaling pathway. Predicted trong>totrong> be part of T cell receptrong>totrong>r complex. Predicted trong>totrong> be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

T cell receptrong>totrong>r beta variable 7-9

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

T cell receptrong>totrong>r beta variable 7-8

Predicted trong>totrong> be involved in cell surface receptrong>totrong>r signaling pathway. Predicted trong>totrong> be part of T cell receptrong>totrong>r complex. Predicted trong>totrong> be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

T cell receptrong>totrong>r beta variable 7-1 (non-functional)

Predicted trong>totrong> be involved in cell surface receptrong>totrong>r signaling pathway. Predicted trong>totrong> be part of T cell receptrong>totrong>r complex. Predicted trong>totrong> be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

T cell receptrong>totrong>r beta variable 7-3

Predicted trong>totrong> be involved in cell surface receptrong>totrong>r signaling pathway. Predicted trong>totrong> be part of T cell receptrong>totrong>r complex. Predicted trong>totrong> be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

T cell receptrong>totrong>r beta variable 7-2

Predicted trong>totrong> be involved in cell surface receptrong>totrong>r signaling pathway. Predicted trong>totrong> be part of T cell receptrong>totrong>r complex. Predicted trong>totrong> be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

T cell receptrong>totrong>r beta variable 7-5 (pseudogene)

T cell receptrong>totrong>r beta variable 7-4 (gene/pseudogene)

Predicted trong>totrong> be involved in cell surface receptrong>totrong>r signaling pathway. Predicted trong>totrong> be part of T cell receptrong>totrong>r complex. Predicted trong>totrong> be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

T cell receptrong>totrong>r beta variable 7-7

Predicted trong>totrong> be involved in cell surface receptrong>totrong>r signaling pathway. Predicted trong>totrong> be part of T cell receptrong>totrong>r complex. Predicted trong>totrong> be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

T cell receptrong>totrong>r beta variable 7-6

Predicted trong>totrong> be involved in cell surface receptrong>totrong>r signaling pathway. Predicted trong>totrong> be part of T cell receptrong>totrong>r complex. Predicted trong>totrong> be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

hexokinase 3 (white cell)

Hexokinases phosphorylate glucose trong>totrong> produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 3. Similar trong>totrong> hexokinases 1 and 2, this allosteric enzyme is inhibited by its product glucose-6-phosphate. [provided by RefSeq, Apr 2009]

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

Predicted trong>totrong> be involved in GPI anchor biosynthetic process. Predicted trong>totrong> act upstream of or within several processes, including cerebrospinal fluid circulation; establishment of protein localization; and protein N-linked glycosylation. Predicted trong>totrong> be located in extracellular region and membrane. Predicted trong>totrong> be active in endoplasmic reticulum. [provided by Alliance of Genome Resources, Mar 2025]

mature T-cell proliferation 1

This gene was identified by involvement in some t(X;14) translocations associated with mature T-cell proliferations. This region has a complex gene structure, with a common promoter and 5' exon spliced trong>totrong> two different sets of 3' exons that encode two different proteins. This gene represents the upstream 13 kDa protein that is a member of the TCL1 family. This protein may be involved in leukemogenesis. [provided by RefSeq, Mar 2009]

cell division cycle associated 2

This gene encodes a targeting subunit of the cell-cycle associated protein, protein phosphatase 1, with a role in targeting this protein trong>totrong> chromatin during anaphase. These two proteins comprise a phosphatase complex that is involved in nuclear envelope reformation and regulation of the DNA damage response. The encoded protein may also play a role in cancer progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

cell division cycle associated 3

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

cell division cycle associated 7

This gene was identified as a c-Myc responsive gene, and behaves as a direct c-Myc target gene. Overexpression of this gene is found trong>totrong> enhance the transformation of lymphoblastrong>totrong>id cells, and it complements a transformation-defective Myc Box II mutant, suggesting its involvement in c-Myc-mediated cell transformation. Two alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

cell division cycle associated 4

This gene encodes a protein that belongs trong>totrong> the E2F family of transcription factrong>totrong>rs. This protein regulates E2F-dependent transcriptional activation and cell proliferation, mainly through the E2F/retinoblastrong>totrong>ma protein pathway. It also functions in the regulation of JUN oncogene expression. This protein shows distinctive nuclear-mitrong>totrong>tic apparatus distribution, it is involved in spindle organization from prometaphase, and may also play a role as a midzone factrong>totrong>r involved in chromosome segregation or cytrong>totrong>kinesis. Two alternatively spliced transcript variants encoding the same protein have been noted for this gene. Two pseudogenes have also been identified on chromosome 1. [provided by RefSeq, May 2014]

cell division cycle associated 5

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

cell division cycle associated 8

This gene encodes a component of the chromosomal passenger complex. This complex is an essential regulatrong>totrong>r of mitrong>totrong>sis and cell division. This protein is cell-cycle regulated and is required for chromatin-induced microtubule stabilization and spindle formation. Alternate splicing results in multiple transcript variants. Pseudgenes of this gene are found on chromosomes 7, 8 and 16. [provided by RefSeq, Apr 2013]

mucin 4, cell surface associated

The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]

cell migration inducing protein, hyaluronan binding

Enables several functions, including clathrin heavy chain binding activity; hyaluronic acid binding activity; and hyalurononglucosaminidase activity. Involved in several processes, including hyaluronan catabolic process; positive regulation of protein phosphorylation; and positive regulation of protein targeting trong>totrong> membrane. Located in several cellular components, including clathrin-coated endocytic vesicle; endoplasmic reticulum; and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

epithelial cell adhesion molecule

This gene encodes a carcinoma-associated antigen and is a member of a family that includes at least two type I membrane proteins. This antigen is expressed on most normal epithelial cells and gastrointestinal carcinomas and functions as a homotypic calcium-independent cell adhesion molecule. The antigen is being used as a target for immunotherapy treatment of human carcinomas. Mutations in this gene result in congenital tufting enteropathy. [provided by RefSeq, Dec 2008]

T cell receptrong>totrong>r alpha joining 29

T cell receptrong>totrong>rs recognize foreign antigens which have been processed as small peptides and bound trong>totrong> major histrong>totrong>compatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptrong>totrong>r is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptrong>totrong>r loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds trong>totrong> rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptrong>totrong>r alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined trong>totrong> the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known trong>totrong> be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

T cell receptrong>totrong>r alpha joining 28

T cell receptrong>totrong>rs recognize foreign antigens which have been processed as small peptides and bound trong>totrong> major histrong>totrong>compatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptrong>totrong>r is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptrong>totrong>r loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds trong>totrong> rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptrong>totrong>r alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined trong>totrong> the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known trong>totrong> be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]