psui3905/ncbi_genes_summary huggingface dataset:
CRYBG2, Official Symbol CRYBG2provided by HGNC Official Full Name crystallin beta-gamma domain containing 2provided by HGNC Primary source HGNC:HGNC:17295 See related Ensembl:ENSG00000176092 MIM:619765; AllianceGenome:HGNC:17295 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 AIM1L Summary Predicted to enable carbohydrate binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in esophagus (RPKM 18.9), skin (RPKM 6.5) and 5 other tissues See more Orthologs mouse all
CRYBG3, Official Symbol CRYBG3provided by HGNC Official Full Name crystallin beta-gamma domain containing 3provided by HGNC Primary source HGNC:HGNC:34427 See related Ensembl:ENSG00000080200 MIM:620146; AllianceGenome:HGNC:34427 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 vlAKAP; DKFZp667G2110 Summary Enables protein kinase A binding activity. Predicted to be involved in lens development in camera-type eye and visual perception. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in thyroid (RPKM 19.9), testis (RPKM 9.8) and 24 other tissues See more Orthologs mouse all
CRYGA, Official Symbol CRYGAprovided by HGNC Official Full Name crystallin gamma Aprovided by HGNC Primary source HGNC:HGNC:2408 See related Ensembl:ENSG00000168582 MIM:123660; AllianceGenome:HGNC:2408 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 CRYG1; CRYG5; CRY-g-A Summary Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008] Orthologs all
CRYGB, Official Symbol CRYGBprovided by HGNC Official Full Name crystallin gamma Bprovided by HGNC Primary source HGNC:HGNC:2409 See related Ensembl:ENSG00000182187 MIM:123670; AllianceGenome:HGNC:2409 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 CRYG2; CTRCT39 Summary Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs all
CRYGC, Official Symbol CRYGCprovided by HGNC Official Full Name crystallin gamma Cprovided by HGNC Primary source HGNC:HGNC:2410 See related Ensembl:ENSG00000163254 MIM:123680; AllianceGenome:HGNC:2410 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 CCL; CRYG3; CTRCT2 Summary This gene encodes a member of the beta/gamma-crystallin family of proteins. Crystallins constitute the major proteins of vertebrate eye lens and maintain the transparency and refractive index of the lens. This gene and several family members are present in a gene cluster on chromosome 2. Mutations in this gene have been shown to cause multiple types of cataract, including Coppock-like cataract and zonular pulverulent cataract, among others. [provided by RefSeq, Jan 2015] Expression Low expression observed in reference dataset See more Orthologs all
CRYGD, Official Symbol CRYGDprovided by HGNC Official Full Name crystallin gamma Dprovided by HGNC Primary source HGNC:HGNC:2411 See related Ensembl:ENSG00000118231 MIM:123690; AllianceGenome:HGNC:2411 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 CCP; PCC; CACA; CCA3; CRYG4; CTRCT4; cry-g-D Summary Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008] Expression Biased expression in ovary (RPKM 6.8) and bone marrow (RPKM 0.8) See more Orthologs all
CRYGGP, Official Symbol CRYGGPprovided by HGNC Official Full Name crystallin gamma G, pseudogeneprovided by HGNC Primary source HGNC:HGNC:2414 See related Ensembl:ENSG00000223710 AllianceGenome:HGNC:2414 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 CRYGGP1
CRYGN, Official Symbol CRYGNprovided by HGNC Official Full Name crystallin gamma Nprovided by HGNC Primary source HGNC:HGNC:20458 See related Ensembl:ENSG00000127377 MIM:609603; AllianceGenome:HGNC:20458 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 Summary This gene encodes a member of the crystallin family of proteins that are localized to the refractive structure of vertebrate eye lenses. The protein encoded by this gene is unique in that it has both beta and gamma crystallin protein motifs. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015] Expression Biased expression in thyroid (RPKM 3.5), endometrium (RPKM 0.5) and 2 other tissues See more Orthologs mouse all
CRYGS, Official Symbol CRYGSprovided by HGNC Official Full Name crystallin gamma Sprovided by HGNC Primary source HGNC:HGNC:2417 See related Ensembl:ENSG00000213139 MIM:123730; AllianceGenome:HGNC:2417 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 CRYG8; CTRCT20 Summary Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. This gene encodes a protein initially considered to be a beta-crystallin but the encoded protein is monomeric and has greater sequence similarity to other gamma-crystallins. This gene encodes the most significant gamma-crystallin in adult eye lens tissue. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in spleen (RPKM 1.8), skin (RPKM 1.8) and 25 other tissues See more Orthologs mouse all
CRYL1, Official Symbol CRYL1provided by HGNC Official Full Name crystallin lambda 1provided by HGNC Primary source HGNC:HGNC:18246 See related Ensembl:ENSG00000165475 MIM:609877; AllianceGenome:HGNC:18246 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 GDH; HEL30; gul3DH; lambda-CRY Summary The uronate cycle functions as an alternative glucose metabolic pathway, accounting for about 5% of daily glucose catabolism. The product of this gene catalyzes the dehydrogenation of L-gulonate into dehydro-L-gulonate in the uronate cycle. The enzyme requires NAD(H) as a coenzyme, and is inhibited by inorganic phosphate. A similar gene in the rabbit is thought to serve a structural role in the lens of the eye. [provided by RefSeq, Jul 2008] Expression Broad expression in kidney (RPKM 110.5), duodenum (RPKM 59.6) and 21 other tissues See more Orthologs mouse all
CRYM, Official Symbol CRYMprovided by HGNC Official Full Name crystallin muprovided by HGNC Primary source HGNC:HGNC:2418 See related Ensembl:ENSG00000103316 MIM:123740; AllianceGenome:HGNC:2418 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 THBP; DFNA40 Summary Crystallins are separated into two classes: taxon-specific and ubiquitous. The former class is also called phylogenetically-restricted crystallins. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. This gene encodes a taxon-specific crystallin protein that binds NADPH and has sequence similarity to bacterial ornithine cyclodeaminases. The encoded protein does not perform a structural role in lens tissue, and instead it binds thyroid hormone for possible regulatory or developmental roles. Mutations in this gene have been associated with autosomal dominant non-syndromic deafness. [provided by RefSeq, Sep 2014] Expression Biased expression in heart (RPKM 46.6), brain (RPKM 32.2) and 9 other tissues See more Orthologs mouse all
CRYM-AS1, Official Symbol CRYM-AS1provided by HGNC Official Full Name CRYM antisense RNA 1provided by HGNC Primary source HGNC:HGNC:34405 See related AllianceGenome:HGNC:34405 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 NCRNA00169 Summary Predicted to enable ATPase-coupled transmembrane transporter activity and lipid transporter activity. Predicted to be involved in lipid transport. Predicted to be integral component of membrane. Predicted to be active in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more
CRYZ, Official Symbol CRYZprovided by HGNC Official Full Name crystallin zetaprovided by HGNC Primary source HGNC:HGNC:2419 See related Ensembl:ENSG00000116791 MIM:123691; AllianceGenome:HGNC:2419 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 Summary Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. The former class is also called phylogenetically-restricted crystallins. This gene encodes a taxon-specific crystallin protein which has NADPH-dependent quinone reductase activity distinct from other known quinone reductases. It lacks alcohol dehydrogenase activity although by similarity it is considered a member of the zinc-containing alcohol dehydrogenase family. Unlike other mammalian species, in humans, lens expression is low. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. One pseudogene is known to exist. [provided by RefSeq, Sep 2008] Expression Broad expression in kidney (RPKM 99.6), liver (RPKM 48.8) and 23 other tissues See more Orthologs mouse all
CRYZL1, Official Symbol CRYZL1provided by HGNC Official Full Name crystallin zeta like 1provided by HGNC Primary source HGNC:HGNC:2420 See related Ensembl:ENSG00000205758 MIM:603920; AllianceGenome:HGNC:2420 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 4P11; QOH-1 Summary This gene encodes a protein that has sequence similarity to zeta crystallin, also known as quinone oxidoreductase. This zeta crystallin-like protein also contains an NAD(P)H binding site. Alternatively spliced transcript variants have been observed but their full-length nature has not been completely determined. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 17.7), brain (RPKM 12.9) and 25 other tissues See more Orthologs mouse all
CRYZL2P, Official Symbol CRYZL2Pprovided by HGNC Official Full Name crystallin zeta like 2, pseudogeneprovided by HGNC Primary source HGNC:HGNC:52164 See related Ensembl:ENSG00000242193 AllianceGenome:HGNC:52164 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Ubiquitous expression in duodenum (RPKM 9.7), fat (RPKM 9.1) and 25 other tissues See more
CRYZL2P-SEC16B, Official Symbol CRYZL2P-SEC16Bprovided by HGNC Official Full Name CRYZL2P-SEC16B readthroughprovided by HGNC Primary source HGNC:HGNC:53757 See related AllianceGenome:HGNC:53757 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 This locus represents naturally occurring read-through transcription between the neighboring CRYZL2P (crystallin zeta like 2 pseudogene) and SEC16B (SEC16 homolog B, endoplasmic reticulum export factor) genes on chromosome 1. The readthrough transcript encodes a protein that shares sequence identity with the downstream gene product. [provided by RefSeq, Oct 2017] Orthologs all
CRYZP1, Official Symbol CRYZP1provided by HGNC Official Full Name crystallin zeta pseudogene 1provided by HGNC Primary source HGNC:HGNC:2421 See related AllianceGenome:HGNC:2421 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CRYZP2, Official Symbol CRYZP2provided by HGNC Official Full Name crystallin zeta pseudogene 2provided by HGNC Primary source HGNC:HGNC:49203 See related AllianceGenome:HGNC:49203 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CS, Official Symbol CSprovided by HGNC Official Full Name citrate synthaseprovided by HGNC Primary source HGNC:HGNC:2422 See related Ensembl:ENSG00000062485 MIM:118950; AllianceGenome:HGNC:2422 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 Summary The protein encoded by this gene is a Krebs tricarboxylic acid cycle enzyme that catalyzes the synthesis of citrate from oxaloacetate and acetyl coenzyme A. The enzyme is found in nearly all cells capable of oxidative metablism. This protein is nuclear encoded and transported into the mitochondrial matrix, where the mature form is found. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in heart (RPKM 124.5), fat (RPKM 107.9) and 25 other tissues See more Orthologs mouse all
CSAD, Official Symbol CSADprovided by HGNC Official Full Name cysteine sulfinic acid decarboxylaseprovided by HGNC Primary source HGNC:HGNC:18966 See related Ensembl:ENSG00000139631 MIM:616569; AllianceGenome:HGNC:18966 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 CSD; PCAP Summary This gene encodes a member of the group 2 decarboxylase family. A similar protein in rodents plays a role in multiple biological processes as the rate-limiting enzyme in taurine biosynthesis, catalyzing the decarboxylation of cysteinesulfinate to hypotaurine. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011] Expression Ubiquitous expression in fat (RPKM 9.9), skin (RPKM 8.5) and 25 other tissues See more Orthologs mouse all
CSAG1, Official Symbol CSAG1provided by HGNC Official Full Name chondrosarcoma associated gene 1provided by HGNC Primary source HGNC:HGNC:24294 See related Ensembl:ENSG00000198930 MIM:300944; AllianceGenome:HGNC:24294 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 CSAGE; CT24.1 Summary This gene encodes a member of a family of tumor antigens. The protein is expressed in chondrosarcomas, but may also be expressed in normal tissues such as testis. Alternative splicing of this gene results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs all
CSAG2, Official Symbol CSAG2provided by HGNC Official Full Name CSAG family member 2provided by HGNC Primary source HGNC:HGNC:16847 See related Ensembl:ENSG00000268902 MIM:301096; AllianceGenome:HGNC:16847 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 TRAG3; CSAG3B; CT24.2; TRAG-3 Summary Predicted to be involved in response to xenobiotic stimulus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 1.0), lymph node (RPKM 0.8) and 5 other tissues See more Orthologs all
CSAG3, Official Symbol CSAG3provided by HGNC Official Full Name CSAG family member 3provided by HGNC Primary source HGNC:HGNC:26237 See related Ensembl:ENSG00000268916 MIM:301097; AllianceGenome:HGNC:26237 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 CSAG3A; CT24.2 Summary Predicted to be involved in response to xenobiotic stimulus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 1.6), lymph node (RPKM 1.1) and 5 other tissues See more
CSAG4, Official Symbol CSAG4provided by HGNC Official Full Name CSAG family member 4 (pseudogene)provided by HGNC Primary source HGNC:HGNC:20923 See related Ensembl:ENSG00000290868 AllianceGenome:HGNC:20923 Gene type pseudo 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
CSDC2, Official Symbol CSDC2provided by HGNC Official Full Name cold shock domain containing C2provided by HGNC Primary source HGNC:HGNC:30359 See related Ensembl:ENSG00000172346 MIM:617689; AllianceGenome:HGNC:30359 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 PIPPIN; dJ347H13.2 Summary Predicted to enable mRNA 3'-UTR binding activity. Predicted to be involved in regulation of mRNA stability. Predicted to be located in nucleus. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in ovary (RPKM 40.0), heart (RPKM 28.6) and 8 other tissues See more Orthologs mouse all
CSDE1, Official Symbol CSDE1provided by HGNC Official Full Name cold shock domain containing E1provided by HGNC Primary source HGNC:HGNC:29905 See related Ensembl:ENSG00000009307 MIM:191510; AllianceGenome:HGNC:29905 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 UNR; D1S155E Summary Enables RNA stem-loop binding activity. Involved in IRES-dependent viral translational initiation; nuclear-transcribed mRNA catabolic process, no-go decay; and stress granule assembly. Located in Golgi apparatus; cytosol; and plasma membrane. Part of CRD-mediated mRNA stability complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 208.0), thyroid (RPKM 164.2) and 25 other tissues See more Orthologs mouse all
CSE1L, Official Symbol CSE1Lprovided by HGNC Official Full Name chromosome segregation 1 likeprovided by HGNC Primary source HGNC:HGNC:2431 See related Ensembl:ENSG00000124207 MIM:601342; AllianceGenome:HGNC:2431 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 CAS; CSE1; XPO2 Summary Proteins that carry a nuclear localization signal (NLS) are transported into the nucleus by the importin-alpha/beta heterodimer. Importin-alpha binds the NLS, while importin-beta mediates translocation through the nuclear pore complex. After translocation, RanGTP binds importin-beta and displaces importin-alpha. Importin-alpha must then be returned to the cytoplasm, leaving the NLS protein behind. The protein encoded by this gene binds strongly to NLS-free importin-alpha, and this binding is released in the cytoplasm by the combined action of RANBP1 and RANGAP1. In addition, the encoded protein may play a role both in apoptosis and in cell proliferation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012] Expression Broad expression in testis (RPKM 57.6), esophagus (RPKM 21.5) and 24 other tissues See more Orthologs mouse all
CSF1, Official Symbol CSF1provided by HGNC Official Full Name colony stimulating factor 1provided by HGNC Primary source HGNC:HGNC:2432 See related Ensembl:ENSG00000184371 MIM:120420; AllianceGenome:HGNC:2432 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 MCSF; CSF-1; PG-M-CSF Summary The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of macrophages. The active form of the protein is found extracellularly as a disulfide-linked homodimer, and is thought to be produced by proteolytic cleavage of membrane-bound precursors. The encoded protein may be involved in development of the placenta. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] Expression Ubiquitous expression in placenta (RPKM 19.9), spleen (RPKM 19.7) and 25 other tissues See more Orthologs mouse all
CSF1R, Official Symbol CSF1Rprovided by HGNC Official Full Name colony stimulating factor 1 receptorprovided by HGNC Primary source HGNC:HGNC:2433 See related Ensembl:ENSG00000182578 MIM:164770; AllianceGenome:HGNC:2433 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 FMS; CSFR; FIM2; GPSC; HDLS; C-FMS; CD115; HDLS1; CSF-1R; BANDDOS; M-CSF-R Summary The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. Alternative splicing results in multiple transcript variants. Expression of a splice variant from an LTR promoter has been found in Hodgkin lymphoma (HL), HL cell lines and anaplastic large cell lymphoma. [provided by RefSeq, Mar 2017] Expression Broad expression in spleen (RPKM 68.6), placenta (RPKM 60.0) and 22 other tissues See more Orthologs mouse all
CSF2, Official Symbol CSF2provided by HGNC Official Full Name colony stimulating factor 2provided by HGNC Primary source HGNC:HGNC:2434 See related Ensembl:ENSG00000164400 MIM:138960; AllianceGenome:HGNC:2434 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 CSF; GMCSF Summary The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of granulocytes and macrophages. The active form of the protein is found extracellularly as a homodimer. This gene has been localized to a cluster of related genes at chromosome region 5q31, which is known to be associated with interstitial deletions in the 5q- syndrome and acute myelogenous leukemia. Other genes in the cluster include those encoding interleukins 4, 5, and 13. This gene plays a role in promoting tissue inflammation. Elevated levels of cytokines, including the one produced by this gene, have been detected in SARS-CoV-2 infected patients that develop acute respiratory distress syndrome. Mice deficient in this gene or its receptor develop pulmonary alveolar proteinosis. [provided by RefSeq, Aug 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in cytokine storm inflammatory response. Expression Low expression observed in reference dataset See more Orthologs mouse all
CSF2RA, Official Symbol CSF2RAprovided by HGNC Official Full Name colony stimulating factor 2 receptor subunit alphaprovided by HGNC Primary source HGNC:HGNC:2435 See related Ensembl:ENSG00000198223 Ensembl:ENSG00000292357 MIM:306250; MIM:425000; AllianceGenome:HGNC:2435 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 GMR; CD116; CSF2R; SMDP4; CDw116; CSF2RX; CSF2RY; GMCSFR; CSF2RAX; CSF2RAY; alphaGMR; GMR-alpha; GMCSFR-alpha; GM-CSF-R-alpha Summary The protein encoded by this gene is the alpha subunit of the heterodimeric receptor for colony stimulating factor 2, a cytokine which controls the production, differentiation, and function of granulocytes and macrophages. The encoded protein is a member of the cytokine family of receptors. This gene is found in the pseudoautosomal region (PAR) of the X and Y chromosomes. Multiple transcript variants encoding different isoforms have been found for this gene, with some of the isoforms being membrane-bound and others being soluble. [provided by RefSeq, Jul 2008] Expression Broad expression in placenta (RPKM 20.8), appendix (RPKM 7.7) and 14 other tissues See more Orthologs all
CSF2RB, Official Symbol CSF2RBprovided by HGNC Official Full Name colony stimulating factor 2 receptor subunit betaprovided by HGNC Primary source HGNC:HGNC:2436 See related Ensembl:ENSG00000100368 MIM:138981; AllianceGenome:HGNC:2436 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 CD131; IL3RB; IL5RB; SMDP5; CDw131; betaGMR Summary The protein encoded by this gene is the common beta chain of the high affinity receptor for IL-3, IL-5 and CSF. Defects in this gene have been reported to be associated with protein alveolar proteinosis (PAP). [provided by RefSeq, Jul 2008] Expression Biased expression in appendix (RPKM 40.5), lymph node (RPKM 21.2) and 12 other tissues See more Orthologs mouse all
CSF2RBP1, Official Symbol CSF2RBP1provided by HGNC Official Full Name CSF2RB pseudogene 1provided by HGNC Primary source HGNC:HGNC:2437 See related Ensembl:ENSG00000232254 AllianceGenome:HGNC:2437 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 CSF2RB2; fF45C1.2
CSF3, Official Symbol CSF3provided by HGNC Official Full Name colony stimulating factor 3provided by HGNC Primary source HGNC:HGNC:2438 See related Ensembl:ENSG00000108342 MIM:138970; AllianceGenome:HGNC:2438 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 GCSF; CSF3OS; C17orf33 Summary This gene encodes a member of the IL-6 superfamily of cytokines. The encoded cytokine controls the production, differentiation, and function of granulocytes. Granulocytes are a type of white blood cell that are part of the innate immune response. A modified form of this protein is commonly administered to manage chemotherapy-induced neutropenia. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in cytokine storm inflammatory response. Expression Biased expression in appendix (RPKM 6.9), urinary bladder (RPKM 3.3) and 8 other tissues See more Orthologs mouse all
CSF3R, Official Symbol CSF3Rprovided by HGNC Official Full Name colony stimulating factor 3 receptorprovided by HGNC Primary source HGNC:HGNC:2439 See related Ensembl:ENSG00000119535 MIM:138971; AllianceGenome:HGNC:2439 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 SCN7; CD114; GCSFR Summary The protein encoded by this gene is the receptor for colony stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also function in some cell surface adhesion or recognition processes. Alternatively spliced transcript variants have been described. Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia. [provided by RefSeq, Aug 2010] Expression Biased expression in bone marrow (RPKM 133.9), appendix (RPKM 79.2) and 5 other tissues See more Orthologs mouse all
CSGALNACT1, Official Symbol CSGALNACT1provided by HGNC Official Full Name chondroitin sulfate N-acetylgalactosaminyltransferase 1provided by HGNC Primary source HGNC:HGNC:24290 See related Ensembl:ENSG00000147408 MIM:616615; AllianceGenome:HGNC:24290 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 ChGn; ChGn-1; SDJLABA; CSGalNAcT-1; beta4GalNAcT Summary This gene encodes an enzyme that transfers N-acetylglucosamine (GalNAc) to the core tetrasaccharide linker and to elongating chondroitin sulfate chains in proteoglycans. Knockout of the orthologous mouse gene indicates that the protein is necessary for normal cartilage development and aggrecan metabolism. Mutations in this gene are associated with multiple sclerosis progression, and with mild skeletal dysplasia and joint laxity. [provided by RefSeq, Aug 2017] Expression Broad expression in thyroid (RPKM 21.6), prostate (RPKM 12.2) and 17 other tissues See more Orthologs mouse all
CSGALNACT2, Official Symbol CSGALNACT2provided by HGNC Official Full Name chondroitin sulfate N-acetylgalactosaminyltransferase 2provided by HGNC Primary source HGNC:HGNC:24292 See related Ensembl:ENSG00000169826 MIM:616616; AllianceGenome:HGNC:24292 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 CHGN2; ChGn-2; PRO0082; GALNACT2; GALNACT-2; beta4GalNAcT Summary This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. The encoded protein is involved in elongation during chondroitin sulfate synthesis. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome X. [provided by RefSeq, Feb 2016] Expression Broad expression in bone marrow (RPKM 48.3), gall bladder (RPKM 16.8) and 23 other tissues See more Orthologs mouse all
CSGALNACT2-DT, Official Symbol CSGALNACT2-DTprovided by HGNC Official Full Name CSGALNACT2 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:55174 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CSGALNACT2P1, Official Symbol CSGALNACT2P1provided by HGNC Official Full Name CSGALNACT2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:55033 See related Ensembl:ENSG00000182574 AllianceGenome:HGNC:55033 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CSGALNACT2P2, Official Symbol CSGALNACT2P2provided by HGNC Official Full Name CSGALNACT2 pseudogene 2provided by HGNC Primary source HGNC:HGNC:55034 See related AllianceGenome:HGNC:55034 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CSH1, Official Symbol CSH1provided by HGNC Official Full Name chorionic somatomammotropin hormone 1provided by HGNC Primary source HGNC:HGNC:2440 See related Ensembl:ENSG00000136488 MIM:150200; AllianceGenome:HGNC:2440 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 PL; CSA; CS-1; CSMT; GHB3; hCS-1; hCS-A Summary The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones and plays an important role in growth control. The gene is located at the growth hormone locus on chromosome 17 along with four other related genes in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. This particular family member is expressed mainly in the placenta and utilizes multiple transcription initiation sites. Expression of the identical mature proteins for chorionic somatomammotropin hormones 1 and 2 is upregulated during development, although the ratio of 1 to 2 increases by term. Mutations in this gene result in placental lactogen deficiency and Silver-Russell syndrome. [provided by RefSeq, Jul 2008] Expression Restricted expression toward placenta (RPKM 9553.7) See more Orthologs all
CSH2, Official Symbol CSH2provided by HGNC Official Full Name chorionic somatomammotropin hormone 2provided by HGNC Primary source HGNC:HGNC:2441 See related Ensembl:ENSG00000213218 MIM:118820; AllianceGenome:HGNC:2441 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 PL; CSB; CS-2; GHB1; hCS-B Summary The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones and plays an important role in growth control. The gene is located at the growth hormone locus on chromosome 17 along with four other related genes in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. Alternative splicing generates additional isoforms of each of the five growth hormones. This particular family member is expressed mainly in the placenta and utilizes multiple transcription initiation sites. Expression of the identical mature proteins for chorionic somatomammotropin hormones 1 and 2 is upregulated during development, while the ratio of 1 to 2 increases by term. Structural and expression differences provide avenues for developmental regulation and tissue specificity. [provided by RefSeq, Jul 2008] Expression Restricted expression toward placenta (RPKM 5535.3) See more
CSHL1, Official Symbol CSHL1provided by HGNC Official Full Name chorionic somatomammotropin hormone like 1provided by HGNC Primary source HGNC:HGNC:2442 See related Ensembl:ENSG00000204414 MIM:603515; AllianceGenome:HGNC:2442 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 CSL; CS-5; GHB4; CSHP1; hCS-L Summary The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. This particular family member is expressed in placental villi, although it was originally thought to be a pseudogene. In fact, alternative splicing suggests that the majority of the transcripts would be unable to express a secreted protein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Restricted expression toward placenta (RPKM 201.6) See more Orthologs all
CSK, Official Symbol CSKprovided by HGNC Official Full Name C-terminal Src kinaseprovided by HGNC Primary source HGNC:HGNC:2444 See related Ensembl:ENSG00000103653 MIM:124095; AllianceGenome:HGNC:2444 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 Summary The protein encoded by this gene is involved in multiple pathways, including the regulation of Src family kinases. It plays an important role in T-cell activation through its association with the protein encoded by the protein tyrosine phosphatase, non-receptor type 22 (PTPN22) gene. This protein also phosphorylates C-terminal tyrosine residues on multiple substrates, including the protein encoded by the SRC proto-oncogene, non-receptor tyrosine kinase gene. Phosphorylation suppresses the kinase activity of the Src family tyrosine kinases. An intronic polymorphism (rs34933034) in this gene has been found to affect B-cell activation and is associated with systemic lupus erythematosus (SLE). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2017] Expression Broad expression in lymph node (RPKM 63.0), spleen (RPKM 47.7) and 24 other tissues See more Orthologs mouse all
CSKMT, Official Symbol CSKMTprovided by HGNC Official Full Name citrate synthase lysine methyltransferaseprovided by HGNC Primary source HGNC:HGNC:33113 See related Ensembl:ENSG00000214756 MIM:617897; AllianceGenome:HGNC:33113 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 U99HG; CS-KMT; METTL12 Summary Enables protein-lysine N-methyltransferase activity. Involved in peptidyl-lysine dimethylation; peptidyl-lysine monomethylation; and peptidyl-lysine trimethylation. Predicted to be located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 1.7), endometrium (RPKM 1.6) and 25 other tissues See more Orthologs all
CSMD1, Official Symbol CSMD1provided by HGNC Official Full Name CUB and Sushi multiple domains 1provided by HGNC Primary source HGNC:HGNC:14026 See related Ensembl:ENSG00000183117 MIM:608397; AllianceGenome:HGNC:14026 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 PPP1R24 Summary Predicted to act upstream of or within several processes, including learning or memory; mammary gland branching involved in pregnancy; and reproductive structure development. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s). Expression Biased expression in brain (RPKM 2.2), testis (RPKM 1.7) and 5 other tissues See more Orthologs mouse all
CSMD2, Official Symbol CSMD2provided by HGNC Official Full Name CUB and Sushi multiple domains 2provided by HGNC Primary source HGNC:HGNC:19290 See related Ensembl:ENSG00000121904 MIM:608398; AllianceGenome:HGNC:19290 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 dJ947L8.1; dJ1007G16.1; dJ1007G16.2 Summary The protein encoded by this gene is thought to be involved in the control of complement cascade of the immune system. Defects in this gene have been associated with schizophrenia. This gene may act as a tumor suppressor for colorectal cancer. [provided by RefSeq, Jan 2020] Expression Low expression observed in reference dataset See more Orthologs mouse all
CSMD2-AS1, Official Symbol CSMD2-AS1provided by HGNC Official Full Name CSMD2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40882 See related Ensembl:ENSG00000231163 AllianceGenome:HGNC:40882 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 7.1) See more