psui3905/ncbi_genes_summary huggingface dataset:
CAPNS1, Official Symbol CAPNS1provided by HGNC Official Full Name calpain small subunit 1provided by HGNC Primary source HGNC:HGNC:1481 See related Ensembl:ENSG00000126247 MIM:114170; AllianceGenome:HGNC:1481 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CANP; CDPS; CSS1; CANPS; CAPN4; CALPAIN4 Summary This gene is a member of the calpain small subunit family. Calpains are calcium-dependent cysteine proteinases that are widely distributed in mammalian cells. Calpains operate as heterodimers, comprising a specific large catalytic subunit (calpain 1 subunit in Calpain I, and calpain 2 subunit in Calpain II), and a common small regulatory subunit encoded by this gene. This encoded protein is essential for the stability and function of both calpain heterodimers, whose proteolytic activities influence various cellular functions including apoptosis, proliferation, migration, adhesion, and autophagy. Calpains have been implicated in neurodegenerative processes, such as myotonic dystrophy. A pseudogene of this gene has been defined on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014] Expression Ubiquitous expression in esophagus (RPKM 128.4), heart (RPKM 97.8) and 25 other tissues See more Orthologs mouse all
CAPNS1P1, Official Symbol CAPNS1P1provided by HGNC Official Full Name calpain small subunit 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:39562 See related Ensembl:ENSG00000215874 AllianceGenome:HGNC:39562 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CAPNS2, Official Symbol CAPNS2provided by HGNC Official Full Name calpain small subunit 2provided by HGNC Primary source HGNC:HGNC:16371 See related Ensembl:ENSG00000256812 MIM:616767; AllianceGenome:HGNC:16371 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CSS2 Summary Enables calcium-dependent cysteine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to be located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
CAPRIN1, Official Symbol CAPRIN1provided by HGNC Official Full Name cell cycle associated protein 1provided by HGNC Primary source HGNC:HGNC:6743 See related Ensembl:ENSG00000135387 MIM:601178; AllianceGenome:HGNC:6743 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as M11S1; GPIAP1; RNG105; GPIP137; GRIP137; p137GPI Summary Enables RNA binding activity. Predicted to be involved in negative regulation of translation and positive regulation of dendritic spine morphogenesis. Located in cell leading edge and cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 43.8), brain (RPKM 23.0) and 25 other tissues See more Orthologs mouse all
CAPRIN2, Official Symbol CAPRIN2provided by HGNC Official Full Name caprin family member 2provided by HGNC Primary source HGNC:HGNC:21259 See related Ensembl:ENSG00000110888 MIM:610375; AllianceGenome:HGNC:21259 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EEG1; EEG-1; C1QDC1; RNG140 Summary The protein encoded by this gene may regulate the transport of mRNA. It may play a role in the differentiation of erythroblasts. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016] Expression Ubiquitous expression in testis (RPKM 12.6), brain (RPKM 7.2) and 25 other tissues See more Orthologs mouse all
CAPS, Official Symbol CAPSprovided by HGNC Official Full Name calcyphosineprovided by HGNC Primary source HGNC:HGNC:1487 See related Ensembl:ENSG00000105519 MIM:114212; AllianceGenome:HGNC:1487 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CAPS1 Summary This gene encodes a calcium-binding protein, which may play a role in the regulation of ion transport. A similar protein was first described as a potentially important regulatory protein in the dog thyroid and was termed as R2D5 antigen in rabbit. Alternative splicing of this gene generates two transcript variants. [provided by RefSeq, Jul 2008] Expression Broad expression in lung (RPKM 22.4), endometrium (RPKM 13.8) and 21 other tissues See more Orthologs all
CAPS2, Official Symbol CAPS2provided by HGNC Official Full Name calcyphosine 2provided by HGNC Primary source HGNC:HGNC:16471 See related Ensembl:ENSG00000180881 MIM:607724; AllianceGenome:HGNC:16471 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as UG0636c06 Summary Calcyphosine-2 is a calcium-binding protein with 2 EF-hand motifs (Wang et al., 2002 [PubMed 11846421]).[supplied by OMIM, Mar 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
CAPS2-AS1, Official Symbol CAPS2-AS1provided by HGNC Official Full Name CAPS2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40769 See related AllianceGenome:HGNC:40769 Gene type ncRNA RefSeq status MODEL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
CAPSL, Official Symbol CAPSLprovided by HGNC Official Full Name calcyphosine likeprovided by HGNC Primary source HGNC:HGNC:28375 See related Ensembl:ENSG00000152611 MIM:618799; AllianceGenome:HGNC:28375 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable calcium ion binding activity. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 4.0), lung (RPKM 3.4) and 3 other tissues See more Orthologs mouse all
CAPZA1, Official Symbol CAPZA1provided by HGNC Official Full Name capping actin protein of muscle Z-line subunit alpha 1provided by HGNC Primary source HGNC:HGNC:1488 See related Ensembl:ENSG00000116489 MIM:601580; AllianceGenome:HGNC:1488 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CAPZ; CAZ1; CAPPA1 Summary CAPZA1 is a member of the F-actin capping protein alpha subunit family. This gene encodes the alpha subunit of the barbed-end actin binding protein. The protein regulates growth of the actin filament by capping the barbed end of growing actin filaments. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lymph node (RPKM 69.5), appendix (RPKM 61.9) and 25 other tissues See more Orthologs mouse all
CAPZA1P3, Official Symbol CAPZA1P3provided by HGNC Official Full Name CAPZA1 pseudogene 3provided by HGNC Primary source HGNC:HGNC:54564 See related Ensembl:ENSG00000213698 AllianceGenome:HGNC:54564 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CAPZA2, Official Symbol CAPZA2provided by HGNC Official Full Name capping actin protein of muscle Z-line subunit alpha 2provided by HGNC Primary source HGNC:HGNC:1490 See related Ensembl:ENSG00000198898 MIM:601571; AllianceGenome:HGNC:1490 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CAPZ; CAPPA2 Summary The protein encoded by this gene is a member of the F-actin capping protein alpha subunit family. It is the alpha subunit of the barbed-end actin binding protein Cap Z. By capping the barbed end of actin filaments, Cap Z regulates the growth of the actin filaments at the barbed end. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in heart (RPKM 60.8), urinary bladder (RPKM 54.1) and 25 other tissues See more Orthologs mouse all
CAPZA3, Official Symbol CAPZA3provided by HGNC Official Full Name capping actin protein of muscle Z-line subunit alpha 3provided by HGNC Primary source HGNC:HGNC:24205 See related Ensembl:ENSG00000177938 MIM:608722; AllianceGenome:HGNC:24205 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Gsg3; CAPPA3; HEL-S-86 Summary This gene encodes an actin capping protein, one of the F-actin capping protein alpha subunit family. The encoded protein is predominantly localized to the neck region of ejaculated sperm, other immunohistochemical signals were found in the tail and postacrosomal regions. The encoded protein may also form heterodimers of alpha and beta subunits. This protein may be important in determining sperm architecture and male fertility. [provided by RefSeq, Jul 2008] Orthologs mouse all
CAPZB, Official Symbol CAPZBprovided by HGNC Official Full Name capping actin protein of muscle Z-line subunit betaprovided by HGNC Primary source HGNC:HGNC:1491 See related Ensembl:ENSG00000077549 MIM:601572; AllianceGenome:HGNC:1491 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CAPB; CAPZ; CAPPB Summary This gene encodes the beta subunit of the barbed-end actin binding protein, which belongs to the F-actin capping protein family. The capping protein is a heterodimeric actin capping protein that blocks actin filament assembly and disassembly at the fast growing (barbed) filament ends and functions in regulating actin filament dynamics as well as in stabilizing actin filament lengths in muscle and nonmuscle cells. A pseudogene of this gene is located on the long arm of chromosome 2. Multiple alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, Aug 2013] Expression Ubiquitous expression in appendix (RPKM 43.9), lymph node (RPKM 41.5) and 25 other tissues See more Orthologs mouse all
CAPZBP1, Official Symbol CAPZBP1provided by HGNC Official Full Name CAPZB pseudogene 1provided by HGNC Primary source HGNC:HGNC:54734 See related AllianceGenome:HGNC:54734 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CARD10, Official Symbol CARD10provided by HGNC Official Full Name caspase recruitment domain family member 10provided by HGNC Primary source HGNC:HGNC:16422 See related Ensembl:ENSG00000100065 MIM:607209; AllianceGenome:HGNC:16422 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BIMP1; IMD89; CARMA3 Summary The caspase recruitment domain (CARD) is a protein module that consists of 6 or 7 antiparallel alpha helices. It participates in apoptosis signaling through highly specific protein-protein homophilic interactions. Like several other CARD proteins, CARD10 belongs to the membrane-associated guanylate kinase (MAGUK) family and activates NF-kappa-B (NFKB; see MIM 164011) through BCL10 (MIM 603517) (Wang et al., 2001 [PubMed 11259443]).[supplied by OMIM, Mar 2008] Expression Broad expression in small intestine (RPKM 15.9), duodenum (RPKM 15.0) and 22 other tissues See more Orthologs mouse all
CARD11, Official Symbol CARD11provided by HGNC Official Full Name caspase recruitment domain family member 11provided by HGNC Primary source HGNC:HGNC:16393 See related Ensembl:ENSG00000198286 MIM:607210; AllianceGenome:HGNC:16393 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PPBL; BENTA; BIMP3; IMD11; CARMA1; IMD11A Summary The protein encoded by this gene belongs to the membrane-associated guanylate kinase (MAGUK) family, a class of proteins that functions as molecular scaffolds for the assembly of multiprotein complexes at specialized regions of the plasma membrane. This protein is also a member of the CARD protein family, which is defined by carrying a characteristic caspase-associated recruitment domain (CARD). This protein has a domain structure similar to that of CARD14 protein. The CARD domains of both proteins have been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. When expressed in cells, this protein activated NF-kappaB and induced the phosphorylation of BCL10. [provided by RefSeq, Jul 2008] Expression Biased expression in lymph node (RPKM 19.0), spleen (RPKM 15.1) and 10 other tissues See more Orthologs mouse all
CARD11-AS1, Official Symbol CARD11-AS1provided by HGNC Official Full Name CARD11 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40766 See related AllianceGenome:HGNC:40766 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Restricted expression toward testis (RPKM 1.1) See more
CARD14, Official Symbol CARD14provided by HGNC Official Full Name caspase recruitment domain family member 14provided by HGNC Primary source HGNC:HGNC:16446 See related Ensembl:ENSG00000141527 MIM:607211; AllianceGenome:HGNC:16446 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PRP; PSS1; BIMP2; CARMA2; PSORS2 Summary This gene encodes a caspase recruitment domain-containing protein that is a member of the membrane-associated guanylate kinase (MAGUK) family of proteins. Members of this protein family are scaffold proteins that are involved in a diverse array of cellular processes including cellular adhesion, signal transduction and cell polarity control. This protein has been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012] Expression Broad expression in skin (RPKM 4.8), adrenal (RPKM 1.8) and 21 other tissues See more Orthologs mouse all
CARD16, Official Symbol CARD16provided by HGNC Official Full Name caspase recruitment domain family member 16provided by HGNC Primary source HGNC:HGNC:33701 See related Ensembl:ENSG00000204397 MIM:615680; AllianceGenome:HGNC:33701 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as COP; COP1; PSEUDO-ICE; LLID-114769 Summary Enables several functions, including CARD domain binding activity; cysteine-type endopeptidase inhibitor activity; and enzyme binding activity. Involved in several processes, including negative regulation of cysteine-type endopeptidase activity; regulation of gene expression; and regulation of signal transduction. Part of protease inhibitor complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in spleen (RPKM 14.0), appendix (RPKM 12.0) and 23 other tissues See more Orthologs all
CARD18, Official Symbol CARD18provided by HGNC Official Full Name caspase recruitment domain family member 18provided by HGNC Primary source HGNC:HGNC:28861 See related Ensembl:ENSG00000255501 MIM:605354; AllianceGenome:HGNC:28861 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ICEBERG; UNQ5804; pseudo-ICE Summary Enables CARD domain binding activity and caspase binding activity. Involved in inhibition of cysteine-type endopeptidase activity; negative regulation of interleukin-1 beta production; and negative regulation of protein binding activity. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in skin (RPKM 6.9) and esophagus (RPKM 0.8) See more Orthologs all
CARD19, Official Symbol CARD19provided by HGNC Official Full Name caspase recruitment domain family member 19provided by HGNC Primary source HGNC:HGNC:28148 See related Ensembl:ENSG00000165233 MIM:617726; AllianceGenome:HGNC:28148 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BinCARD; C9orf89 Summary Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 13.5), testis (RPKM 6.7) and 24 other tissues See more Orthologs mouse all
CARD6, Official Symbol CARD6provided by HGNC Official Full Name caspase recruitment domain family member 6provided by HGNC Primary source HGNC:HGNC:16394 See related Ensembl:ENSG00000132357 MIM:609986; AllianceGenome:HGNC:16394 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CINCIN1 Summary This gene encodes a protein that contains a caspase recruitment domain (CARD), an antiparallel six-helical bundle that mediates homotypic protein-protein interactions. The encoded protein is a microtubule-associated protein that has been shown to interact with receptor-interacting protein kinases and positively modulate signal transduction pathways converging on activation of the inducible transcription factor NF-kB. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in gall bladder (RPKM 6.9), spleen (RPKM 6.3) and 24 other tissues See more Orthologs mouse all
CARD8, Official Symbol CARD8provided by HGNC Official Full Name caspase recruitment domain family member 8provided by HGNC Primary source HGNC:HGNC:17057 See related Ensembl:ENSG00000105483 MIM:609051; AllianceGenome:HGNC:17057 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NDPP; DACAR; DAKAR; NDPP1; TUCAN; CARDINAL Summary The protein encoded by this gene belongs to the caspase recruitment domain (CARD)-containing family of proteins, which are involved in pathways leading to activation of caspases or nuclear factor kappa-B (NFKB). This protein may be a component of the inflammasome, a protein complex that plays a role in the activation of proinflammatory caspases. It is thought that this protein acts as an adaptor molecule that negatively regulates NFKB activation, CASP1-dependent IL1B secretion, and apoptosis. Polymorphisms in this gene may be associated with a susceptibility to rheumatoid arthritis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010] Expression Broad expression in spleen (RPKM 13.6), lymph node (RPKM 11.5) and 24 other tissues See more Orthologs all
CARD8-AS1, Official Symbol CARD8-AS1provided by HGNC Official Full Name CARD8 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:51408 See related Ensembl:ENSG00000268001 AllianceGenome:HGNC:51408 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Broad expression in lymph node (RPKM 7.0), appendix (RPKM 5.5) and 23 other tissues See more
CARD9, Official Symbol CARD9provided by HGNC Official Full Name caspase recruitment domain family member 9provided by HGNC Primary source HGNC:HGNC:16391 See related Ensembl:ENSG00000187796 MIM:607212; AllianceGenome:HGNC:16391 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CANDF2; IMD103; hCARD9 Summary The protein encoded by this gene is a member of the CARD protein family, which is defined by the presence of a characteristic caspase-associated recruitment domain (CARD). CARD is a protein interaction domain known to participate in activation or suppression of CARD containing members of the caspase family, and thus plays an important regulatory role in cell apoptosis. This protein was identified by its selective association with the CARD domain of BCL10, a postive regulator of apoptosis and NF-kappaB activation, and is thought to function as a molecular scaffold for the assembly of a BCL10 signaling complex that activates NF-kappaB. Several alternatively spliced transcript variants have been observed, but their full-length nature is not clearly defined. [provided by RefSeq, Jul 2008] Expression Broad expression in bone marrow (RPKM 5.8), spleen (RPKM 4.7) and 19 other tissues See more Orthologs mouse all
CARF, Official Symbol CARFprovided by HGNC Official Full Name calcium responsive transcription factorprovided by HGNC Primary source HGNC:HGNC:14435 See related Ensembl:ENSG00000138380 MIM:607586; AllianceGenome:HGNC:14435 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ALS2CR8; NYD-SP24 Summary Enables DNA binding activity and DNA-binding transcription factor activity. Involved in cellular response to potassium ion and positive regulation of transcription from RNA polymerase II promoter in response to calcium ion. Predicted to be located in granular component. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 5.9), thyroid (RPKM 3.4) and 24 other tissues See more Orthologs mouse all
CARHSP1, Official Symbol CARHSP1provided by HGNC Official Full Name calcium regulated heat stable protein 1provided by HGNC Primary source HGNC:HGNC:17150 See related Ensembl:ENSG00000153048 MIM:616885; AllianceGenome:HGNC:17150 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CSDC1; CRHSP24; CRHSP-24 Summary Enables mRNA 3'-UTR binding activity. Predicted to be involved in regulation of mRNA stability. Predicted to be located in P granule and cytosol. Predicted to be active in cytoplasm. Predicted to colocalize with cytoplasmic exosome (RNase complex). [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 17.9), adrenal (RPKM 11.8) and 25 other tissues See more Orthologs mouse all
CARM1, Official Symbol CARM1provided by HGNC Official Full Name coactivator associated arginine methyltransferase 1provided by HGNC Primary source HGNC:HGNC:23393 See related Ensembl:ENSG00000142453 MIM:603934; AllianceGenome:HGNC:23393 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PRMT4 Summary This gene belongs to the protein arginine methyltransferase (PRMT) family. The encoded enzyme catalyzes the methylation of guanidino nitrogens of arginyl residues of proteins. The enzyme acts specifically on histones and other chromatin-associated proteins and is involved in regulation of gene expression. The enzyme may act in association with other proteins or within multi-protein complexes and may play a role in cell type-specific functions and cell lineage specification. A related pseudogene is located on chromosome 9. [provided by RefSeq, Aug 2013] Expression Ubiquitous expression in testis (RPKM 20.7), placenta (RPKM 17.2) and 25 other tissues See more Orthologs mouse all
CARMAL, Official Symbol CARMALprovided by HGNC Official Full Name coronary artery disease region linked MFGE8 regulatory lncRNAprovided by HGNC Primary source HGNC:HGNC:55102 See related AllianceGenome:HGNC:55102 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
CARMIL1, Official Symbol CARMIL1provided by HGNC Official Full Name capping protein regulator and myosin 1 linker 1provided by HGNC Primary source HGNC:HGNC:21581 See related Ensembl:ENSG00000079691 MIM:609593; AllianceGenome:HGNC:21581 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CARMIL; LRRC16; LRRC16A; CARMIL1a; dJ501N12.1; dJ501N12.5 Summary Involved in several processes, including actin filament network formation; plasma membrane bounded cell projection organization; and positive regulation of cellular component organization. Located in several cellular components, including lamellipodium; macropinosome; and nuclear speck. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 7.4), small intestine (RPKM 6.3) and 24 other tissues See more Orthologs mouse all
CARMIL2, Official Symbol CARMIL2provided by HGNC Official Full Name capping protein regulator and myosin 1 linker 2provided by HGNC Primary source HGNC:HGNC:27089 See related Ensembl:ENSG00000159753 MIM:610859; AllianceGenome:HGNC:27089 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as IMD58; RLTPR; LRRC16C; CARMIL2b Summary This gene encodes a member of the CARMIL (capping protein, Arp2/3, myosin-I linker) family of proteins. The encoded protein interacts with and negatively regulates the heterodimeric capping protein and promotes cell migration. Reduced expression of this gene has been observed in human psoriasis patients. Mutations in this gene cause a human immunodeficiency syndrome characterized by smooth muscle tumors and impaired T-cell function. [provided by RefSeq, May 2017] Expression Biased expression in lymph node (RPKM 12.2), spleen (RPKM 8.2) and 10 other tissues See more Orthologs mouse all
CARMIL3, Official Symbol CARMIL3provided by HGNC Official Full Name capping protein regulator and myosin 1 linker 3provided by HGNC Primary source HGNC:HGNC:20272 See related Ensembl:ENSG00000186648 MIM:614716; AllianceGenome:HGNC:20272 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as crml-1; LRRC16B; C14orf121 Summary Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in skin (RPKM 2.9), brain (RPKM 2.8) and 19 other tissues See more Orthologs mouse all
CARNMT1, Official Symbol CARNMT1provided by HGNC Official Full Name carnosine N-methyltransferase 1provided by HGNC Primary source HGNC:HGNC:23435 See related Ensembl:ENSG00000156017 MIM:616552; AllianceGenome:HGNC:23435 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C9orf41; UPF0586 Summary The protein encoded by this gene is a methyltransferase that converts carnosine to anserine, a dipeptide found abundantly in skeletal muscle. The encoded protein can methylate other dipeptides as well. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2016] Expression Ubiquitous expression in thyroid (RPKM 5.8), testis (RPKM 4.9) and 25 other tissues See more Orthologs mouse all
CARNMT1-AS1, Official Symbol CARNMT1-AS1provided by HGNC Official Full Name CARNMT1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:51188 See related AllianceGenome:HGNC:51188 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C9orf41-AS1 Expression Broad expression in testis (RPKM 1.1), thyroid (RPKM 0.7) and 25 other tissues See more
CARNS1, Official Symbol CARNS1provided by HGNC Official Full Name carnosine synthase 1provided by HGNC Primary source HGNC:HGNC:29268 See related Ensembl:ENSG00000172508 MIM:613368; AllianceGenome:HGNC:29268 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ATPGD1 Summary CARNS1 (EC 6.3.2.11), a member of the ATP-grasp family of ATPases, catalyzes the formation of carnosine (beta-alanyl-L-histidine) and homocarnosine (gamma-aminobutyryl-L-histidine), which are found mainly in skeletal muscle and the central nervous system, respectively (Drozak et al., 2010 [PubMed 20097752]).[supplied by OMIM, Apr 2010] Expression Biased expression in brain (RPKM 21.1), thyroid (RPKM 2.9) and 3 other tissues See more Orthologs mouse all
CARS1, Official Symbol CARS1provided by HGNC Official Full Name cysteinyl-tRNA synthetase 1provided by HGNC Primary source HGNC:HGNC:1493 See related Ensembl:ENSG00000110619 MIM:123859; AllianceGenome:HGNC:1493 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CARS; MDBH; CYSRS; MCDDBH; MGC:11246 Summary This gene encodes a class 1 aminoacyl-tRNA synthetase, cysteinyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. This gene is one of several located near the imprinted gene domain on chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2010] Expression Ubiquitous expression in thyroid (RPKM 12.8), brain (RPKM 10.8) and 25 other tissues See more Orthologs mouse all
CARS1-AS1, Official Symbol CARS1-AS1provided by HGNC Official Full Name CARS1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40125 See related Ensembl:ENSG00000247473 AllianceGenome:HGNC:40125 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CARS-AS1
CARS1P2, Official Symbol CARS1P2provided by HGNC Official Full Name cysteinyl-tRNA synthetase 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:50478 See related Ensembl:ENSG00000253756 AllianceGenome:HGNC:50478 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CARSP2
CARS2, Official Symbol CARS2provided by HGNC Official Full Name cysteinyl-tRNA synthetase 2, mitochondrialprovided by HGNC Primary source HGNC:HGNC:25695 See related Ensembl:ENSG00000134905 MIM:612800; AllianceGenome:HGNC:25695 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as cysRS; COXPD27 Summary This gene encodes a putative member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of cysteine to tRNA molecules. A splice-site mutation in this gene has been associated with a novel progressive myoclonic epilepsy disease with similar symptoms to MERRF syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2017] Expression Ubiquitous expression in spleen (RPKM 6.3), bone marrow (RPKM 6.0) and 25 other tissues See more Orthologs mouse all
CARTPT, Official Symbol CARTPTprovided by HGNC Official Full Name CART prepropeptideprovided by HGNC Primary source HGNC:HGNC:24323 See related Ensembl:ENSG00000164326 MIM:602606; AllianceGenome:HGNC:24323 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CART Summary This gene encodes a preproprotein that is proteolytically processed to generate multiple biologically active peptides. These peptides play a role in appetite, energy balance, maintenance of body weight, reward and addiction, and the stress response. Expression of a similar gene transcript in rodents is upregulated following administration of cocaine and amphetamine. Mutations in this gene are associated with susceptibility to obesity in humans. [provided by RefSeq, Feb 2016] Expression Biased expression in adrenal (RPKM 51.3), brain (RPKM 5.7) and 1 other tissue See more Orthologs mouse all
CASC11, Official Symbol CASC11provided by HGNC Official Full Name cancer susceptibility 11provided by HGNC Primary source HGNC:HGNC:48939 See related Ensembl:ENSG00000249375 MIM:617704; AllianceGenome:HGNC:48939 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MYMLR; CARLO7; CARLo-7; LINC00990; TCONS_00014535 Expression Low expression observed in reference dataset See more
CASC16, Official Symbol CASC16provided by HGNC Official Full Name cancer susceptibility 16provided by HGNC Primary source HGNC:HGNC:48608 See related Ensembl:ENSG00000249231 AllianceGenome:HGNC:48608 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LINC00918 Expression Restricted expression toward testis (RPKM 9.4) See more
CASC17, Official Symbol CASC17provided by HGNC Official Full Name cancer susceptibility 17provided by HGNC Primary source HGNC:HGNC:43911 See related Ensembl:ENSG00000260785 AllianceGenome:HGNC:43911 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LINC00600 Expression Restricted expression toward testis (RPKM 1.2) See more
CASC18, Official Symbol CASC18provided by HGNC Official Full Name cancer susceptibility 18provided by HGNC Primary source HGNC:HGNC:49463 See related Ensembl:ENSG00000257859 AllianceGenome:HGNC:49463 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
CASC19, Official Symbol CASC19provided by HGNC Official Full Name cancer susceptibility 19provided by HGNC Primary source HGNC:HGNC:49476 See related MIM:617703; AllianceGenome:HGNC:49476 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CARLO6; CARLo-6; LINC01245 Expression Low expression observed in reference dataset See more
CASC2, Official Symbol CASC2provided by HGNC Official Full Name cancer susceptibility 2provided by HGNC Primary source HGNC:HGNC:22933 See related Ensembl:ENSG00000177640 MIM:608598; AllianceGenome:HGNC:22933 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C10orf5 Summary Involved in defense response to tumor cell; negative regulation of MAPK cascade; and positive regulation of cysteine-type endopeptidase activity involved in apoptotic process. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in thyroid (RPKM 1.0), brain (RPKM 1.0) and 22 other tissues See more
CASC20, Official Symbol CASC20provided by HGNC Official Full Name cancer susceptibility 20provided by HGNC Primary source HGNC:HGNC:49477 See related Ensembl:ENSG00000229876 AllianceGenome:HGNC:49477 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
CASC22, Official Symbol CASC22provided by HGNC Official Full Name cancer susceptibility 22provided by HGNC Primary source HGNC:HGNC:50627 See related Ensembl:ENSG00000260887 AllianceGenome:HGNC:50627 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LINC01373; TCONS_00024290; LincRNA-ENST00000515084 Expression Restricted expression toward testis (RPKM 1.5) See more
CASC23, Official Symbol CASC23provided by HGNC Official Full Name cancer susceptibility 23provided by HGNC Primary source HGNC:HGNC:50865 See related Ensembl:ENSG00000255420 AllianceGenome:HGNC:50865 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LINC01464 Expression Restricted expression toward testis (RPKM 3.3) See more
CASC3, Official Symbol CASC3provided by HGNC Official Full Name CASC3 exon junction complex subunitprovided by HGNC Primary source HGNC:HGNC:17040 See related Ensembl:ENSG00000108349 MIM:606504; AllianceGenome:HGNC:17040 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BTZ; MLN51 Summary 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 cytoplasm, but shuttles into the nucleus where it localizes to nuclear speckles. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 40.3), endometrium (RPKM 27.3) and 25 other tissues See more Orthologs mouse all
CASC8, Official Symbol CASC8provided by HGNC Official Full Name cancer susceptibility 8provided by HGNC Primary source HGNC:HGNC:45129 See related Ensembl:ENSG00000246228 MIM:617701; AllianceGenome:HGNC:45129 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CARLO1; CARLo-1; LINC00860 Expression Low expression observed in reference dataset See more
CASC9, Official Symbol CASC9provided by HGNC Official Full Name cancer susceptibility 9provided by HGNC Primary source HGNC:HGNC:48906 See related Ensembl:ENSG00000249395 AllianceGenome:HGNC:48906 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ESSCAL1; ESCCAL-1; LINC00981; linc-JPH1 Expression Biased expression in colon (RPKM 1.7), placenta (RPKM 0.9) and 8 other tissues See more
CASD1, Official Symbol CASD1provided by HGNC Official Full Name CAS1 domain containing 1provided by HGNC Primary source HGNC:HGNC:16014 See related Ensembl:ENSG00000127995 MIM:611686; AllianceGenome:HGNC:16014 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SOAT; C7orf12; NBLA04196 Summary Enables N-acetylneuraminate 7-O(or 9-O)-acetyltransferase activity. Involved in carbohydrate metabolic process. Is integral component of Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 10.9), brain (RPKM 10.1) and 25 other tissues See more Orthologs mouse all
CASK, Official Symbol CASKprovided by HGNC Official Full Name calcium/calmodulin dependent serine protein kinaseprovided by HGNC Primary source HGNC:HGNC:1497 See related Ensembl:ENSG00000147044 MIM:300172; AllianceGenome:HGNC:1497 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CMG; FGS4; LIN2; TNRC8; hCASK; CAGH39; CAMGUK; MICPCH; MRXSNA Summary This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the brain. Mutations in this gene are associated with FG syndrome 4, intellectual disability and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked intellectual disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017] Expression Ubiquitous expression in duodenum (RPKM 8.0), small intestine (RPKM 7.8) and 25 other tissues See more Orthologs mouse all
CASK-AS1, Official Symbol CASK-AS1provided by HGNC Official Full Name CASK antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40126 See related AllianceGenome:HGNC:40126 Gene type ncRNA Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information not in current annotation release
CASKIN1, Official Symbol CASKIN1provided by HGNC Official Full Name CASK interacting protein 1provided by HGNC Primary source HGNC:HGNC:20879 See related Ensembl:ENSG00000167971 MIM:612184; AllianceGenome:HGNC:20879 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ANKS5A Summary Enables identical protein binding activity. Predicted to be involved in signal transduction. Predicted to be active in cytoplasm and membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 9.2), colon (RPKM 2.0) and 23 other tissues See more Orthologs mouse all
CASKIN2, Official Symbol CASKIN2provided by HGNC Official Full Name CASK interacting protein 2provided by HGNC Primary source HGNC:HGNC:18200 See related Ensembl:ENSG00000177303 MIM:612185; AllianceGenome:HGNC:18200 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ANKS5B Summary This gene encodes a large protein that contains six ankyrin repeats, as well as a Src homology 3 (SH3) domain and two sterile alpha motif (SAM) domains, which may be involved in protein-protein interactions. The C-terminal portion of this protein is proline-rich and contains a conserved region. A related protein interacts with calcium/calmodulin-dependent serine protein kinase (CASK). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013] Expression Ubiquitous expression in fat (RPKM 13.1), lung (RPKM 12.8) and 24 other tissues See more Orthologs mouse all
CASKP1, Official Symbol CASKP1provided by HGNC Official Full Name calcium/calmodulin dependent serine protein kinase pseudogene 1provided by HGNC Primary source HGNC:HGNC:1498 See related Ensembl:ENSG00000234059 AllianceGenome:HGNC:1498 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CASKP