psui3905/ncbi_genes_summary huggingface dataset:
CISH, Official Symbol CISHprovided by HGNC Official Full Name cytokine inducible SH2 containing proteinprovided by HGNC Primary source HGNC:HGNC:1984 See related Ensembl:ENSG00000114737 MIM:602441; AllianceGenome:HGNC:1984 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 CIS; G18; SOCS; CIS-1; BACTS2 Summary The protein encoded by this gene contains a SH2 domain and a SOCS box domain. The protein thus belongs to the cytokine-induced STAT inhibitor (CIS), also known as suppressor of cytokine signaling (SOCS) or STAT-induced STAT inhibitor (SSI), protein family. CIS family members are known to be cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by IL2, IL3, GM-CSF and EPO in hematopoietic cells. Proteasome-mediated degradation of this protein has been shown to be involved in the inactivation of the erythropoietin receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] Expression Broad expression in thyroid (RPKM 9.8), kidney (RPKM 7.3) and 24 other tissues See more Orthologs mouse all
CIT, Official Symbol CITprovided by HGNC Official Full Name citron rho-interacting serine/threonine kinaseprovided by HGNC Primary source HGNC:HGNC:1985 See related Ensembl:ENSG00000122966 MIM:605629; AllianceGenome:HGNC:1985 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 CITK; CRIK; STK21; MCPH17 Summary This gene encodes a serine/threonine-protein kinase that functions in cell division. Together with the kinesin KIF14, this protein localizes to the central spindle and midbody, and functions to promote efficient cytokinesis. This protein is involved in central nervous system development. Polymorphisms in this gene are associated with bipolar disorder and risk for schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] Expression Broad expression in brain (RPKM 9.1), testis (RPKM 3.2) and 18 other tissues See more Orthologs mouse all
CITED1, Official Symbol CITED1provided by HGNC Official Full Name Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1provided by HGNC Primary source HGNC:HGNC:1986 See related Ensembl:ENSG00000125931 MIM:300149; AllianceGenome:HGNC:1986 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 MSG1 Summary This gene encodes a member of the CREB-binding protein/p300-interacting transactivator with Asp/Glu-rich C-terminal domain (CITED) family of proteins. The encoded protein, also known as melanocyte-specific gene 1, may function as a transcriptional coactivator and may play a role in pigmentation of melanocytes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009] Expression Restricted expression toward testis (RPKM 42.2) See more Orthologs mouse all
CITED2, Official Symbol CITED2provided by HGNC Official Full Name Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2provided by HGNC Primary source HGNC:HGNC:1987 See related Ensembl:ENSG00000164442 MIM:602937; AllianceGenome:HGNC:1987 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 ASD8; MRG1; VSD2; MRG-1; P35SRJ Summary The protein encoded by this gene inhibits transactivation of HIF1A-induced genes by competing with binding of hypoxia-inducible factor 1-alpha to p300-CH1. Mutations in this gene are a cause of cardiac septal defects. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] Expression Ubiquitous expression in fat (RPKM 119.5), ovary (RPKM 116.7) and 25 other tissues See more Orthologs mouse all
CITED4, Official Symbol CITED4provided by HGNC Official Full Name Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 4provided by HGNC Primary source HGNC:HGNC:18696 See related Ensembl:ENSG00000179862 MIM:606815; AllianceGenome:HGNC:18696 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 The protein encoded by this intronless gene belongs to the CITED family of transcriptional coactivators that bind to several proteins, including CREB-binding protein (CBP) and p300, via a conserved 32 aa C-terminal motif, and regulate gene transcription. This protein also interacts with transcription factor AP2 (TFAP2), and thus may function as a co-activator for TFAP2. Hypermethylation and transcriptional downregulation of this gene has been observed in oligodendroglial tumors with deletions of chromosomal arms 1p and 19q, and associated with longer recurrence-free and overall survival of patients with oligodendroglial tumors. [provided by RefSeq, Aug 2011] Orthologs mouse all
CIZ1, Official Symbol CIZ1provided by HGNC Official Full Name CDKN1A interacting zinc finger protein 1provided by HGNC Primary source HGNC:HGNC:16744 See related Ensembl:ENSG00000148337 MIM:611420; AllianceGenome:HGNC:16744 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 NP94; LSFR1; ZNF356 Summary The protein encoded by this gene is a zinc finger DNA binding protein that interacts with CIP1, part of a complex with cyclin E. The encoded protein may regulate the cellular localization of CIP1. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] Expression Ubiquitous expression in ovary (RPKM 30.0), testis (RPKM 29.2) and 25 other tissues See more Orthologs mouse all
CKAP2, Official Symbol CKAP2provided by HGNC Official Full Name cytoskeleton associated protein 2provided by HGNC Primary source HGNC:HGNC:1990 See related Ensembl:ENSG00000136108 MIM:611569; AllianceGenome:HGNC:1990 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 LB1; TMAP; se20-10 Summary This gene encodes a cytoskeleton-associated protein that stabalizes microtubules and plays a role in the regulation of cell division. The encoded protein is itself regulated through phosphorylation at multiple serine and threonine residues. There is a pseudogene of this gene on chromosome 14. Alternative splicing results in multiple transcript variations. [provided by RefSeq, Nov 2013] Expression Broad expression in bone marrow (RPKM 15.6), testis (RPKM 14.9) and 24 other tissues See more Orthologs mouse all
CKAP2L, Official Symbol CKAP2Lprovided by HGNC Official Full Name cytoskeleton associated protein 2 likeprovided by HGNC Primary source HGNC:HGNC:26877 See related Ensembl:ENSG00000169607 MIM:616174; AllianceGenome:HGNC:26877 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 thought to be a mitotic spindle protein important to neural stem or progenitor cells. Mutations in this gene have been associated with spindle organization defects, including mitotic spindle defects, lagging chromosomes, and chromatin bridges. There is evidence that mutations in this gene are associated with Filippi syndrome, characterized by growth defects, microcephaly, intellectual disability, facial feature defects, and syndactyly. There is a pseudogene of this gene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015] Expression Biased expression in bone marrow (RPKM 6.1), testis (RPKM 4.2) and 12 other tissues See more Orthologs mouse all
CKAP2LP1, Official Symbol CKAP2LP1provided by HGNC Official Full Name CKAP2L pseudogene 1provided by HGNC Primary source HGNC:HGNC:54420 See related Ensembl:ENSG00000271461 AllianceGenome:HGNC:54420 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CKAP2P1, Official Symbol CKAP2P1provided by HGNC Official Full Name cytoskeleton associated protein 2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:49923 See related AllianceGenome:HGNC:49923 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CKAP4, Official Symbol CKAP4provided by HGNC Official Full Name cytoskeleton associated protein 4provided by HGNC Primary source HGNC:HGNC:16991 See related Ensembl:ENSG00000136026 MIM:618595; AllianceGenome:HGNC:16991 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 p63; CLIMP63; CLIMP-63; ERGIC-63 Summary Enables RNA binding activity. Located in several cellular components, including lipid droplet; nuclear speck; and rough endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 41.9), placenta (RPKM 30.9) and 25 other tissues See more Orthologs mouse all
CKAP5, Official Symbol CKAP5provided by HGNC Official Full Name cytoskeleton associated protein 5provided by HGNC Primary source HGNC:HGNC:28959 See related Ensembl:ENSG00000175216 MIM:611142; AllianceGenome:HGNC:28959 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 TOG; MSPS; TOGp; CHTOG; ch-TOG Summary This gene encodes a cytoskeleton-associated protein which belongs to the TOG/XMAP215 family. The N-terminal half of this protein contains a microtubule-binding domain and the C-terminal half contains a KXGS motif for binding tubulin dimers. This protein has two distinct roles in spindle formation; it protects kinetochore microtubules from depolymerization and plays an essential role in centrosomal microtubule assembly. This protein may be necessary for the proper interaction of microtubules with the cell cortex for directional cell movement. It also plays a role in translation of the myelin basic protein (MBP) mRNA by interacting with heterogeneous nuclear ribonucleoprotein (hnRNP) A2, which associates with MBP. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in testis (RPKM 29.0), brain (RPKM 23.7) and 25 other tissues See more Orthologs mouse all
CKB, Official Symbol CKBprovided by HGNC Official Full Name creatine kinase Bprovided by HGNC Primary source HGNC:HGNC:1991 See related Ensembl:ENSG00000166165 MIM:123280; AllianceGenome:HGNC:1991 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 BCK; B-CK; CKBB; CPK-B; HEL-211; HEL-S-29 Summary The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in brain as well as in other tissues, and as a heterodimer with a similar muscle isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. A pseudogene of this gene has been characterized. [provided by RefSeq, Jul 2008] Expression Broad expression in colon (RPKM 268.3), prostate (RPKM 227.9) and 18 other tissues See more Orthologs mouse all
CKLF, Official Symbol CKLFprovided by HGNC Official Full Name chemokine like factorprovided by HGNC Primary source HGNC:HGNC:13253 See related Ensembl:ENSG00000217555 MIM:616074; AllianceGenome:HGNC:13253 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 C32; CKLF1; CKLF2; CKLF3; CKLF4; UCK-1; HSPC224 Summary The product of this gene is a cytokine. Cytokines are small proteins that have an essential role in the immune and inflammatory responses. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. The protein encoded by this gene is a potent chemoattractant for neutrophils, monocytes and lymphocytes. It also can stimulate the proliferation of skeletal muscle cells. This protein may play important roles in inflammation and in the regeneration of skeletal muscle. Alternatively spliced transcript variants encoding different isoforms have been identified. Naturally occurring read-through transcription occurs between this locus and the neighboring locus CMTM1 (CKLF-like MARVEL transmembrane domain containing 1).[provided by RefSeq, Feb 2011] Expression Ubiquitous expression in appendix (RPKM 18.6), testis (RPKM 17.1) and 24 other tissues See more Orthologs all
CKLF-CMTM1, Official Symbol CKLF-CMTM1provided by HGNC Official Full Name CKLF-CMTM1 readthroughprovided by HGNC Primary source HGNC:HGNC:39977 See related Ensembl:ENSG00000254788 AllianceGenome:HGNC:39977 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 CKLF (chemokine-like factor) and CMTM1 (CKLF-like MARVEL transmembrane domain containing 1) genes on chromosome 16. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Feb 2011] Expression Broad expression in testis (RPKM 21.3), appendix (RPKM 15.2) and 24 other tissues See more Orthologs all
CKM, Official Symbol CKMprovided by HGNC Official Full Name creatine kinase, M-typeprovided by HGNC Primary source HGNC:HGNC:1994 See related Ensembl:ENSG00000104879 MIM:123310; AllianceGenome:HGNC:1994 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 CKMM; M-CK; CPK-M Summary The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis and is an important serum marker for myocardial infarction. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in striated muscle as well as in other tissues, and as a heterodimer with a similar brain isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. [provided by RefSeq, Jul 2008] Expression Biased expression in heart (RPKM 751.9), esophagus (RPKM 219.5) and 1 other tissue See more Orthologs mouse all
CKMT1A, Official Symbol CKMT1Aprovided by HGNC Official Full Name creatine kinase, mitochondrial 1Aprovided by HGNC Primary source HGNC:HGNC:31736 See related Ensembl:ENSG00000223572 MIM:613415; AllianceGenome:HGNC:31736 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 CKMT1; U-MtCK; mia-CK Summary Mitochondrial creatine (MtCK) kinase is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Many malignant cancers with poor prognosis have shown overexpression of ubiquitous mitochondrial creatine kinase; this may be related to high energy turnover and failure to eliminate cancer cells via apoptosis. Ubiquitous mitochondrial creatine kinase has 80% homology with the coding exons of sarcomeric mitochondrial creatine kinase. Two genes located near each other on chromosome 15 have been identified which encode identical mitochondrial creatine kinase proteins. [provided by RefSeq, Jul 2008] Expression Biased expression in colon (RPKM 49.4), duodenum (RPKM 46.7) and 12 other tissues See more Orthologs all
CKMT1B, Official Symbol CKMT1Bprovided by HGNC Official Full Name creatine kinase, mitochondrial 1Bprovided by HGNC Primary source HGNC:HGNC:1995 See related Ensembl:ENSG00000237289 MIM:123290; AllianceGenome:HGNC:1995 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 CKMT; CKMT1; UMTCK Summary Mitochondrial creatine (MtCK) kinase is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Many malignant cancers with poor prognosis have shown overexpression of ubiquitous mitochondrial creatine kinase; this may be related to high energy turnover and failure to eliminate cancer cells via apoptosis. Ubiquitous mitochondrial creatine kinase has 80% homology with the coding exons of sarcomeric mitochondrial creatine kinase. Two genes located near each other on chromosome 15 have been identified which encode identical mitochondrial creatine kinase proteins. [provided by RefSeq, Jul 2008] Expression Biased expression in colon (RPKM 40.9), duodenum (RPKM 39.5) and 13 other tissues See more Orthologs mouse all
CKMT2, Official Symbol CKMT2provided by HGNC Official Full Name creatine kinase, mitochondrial 2provided by HGNC Primary source HGNC:HGNC:1996 See related Ensembl:ENSG00000131730 MIM:123295; AllianceGenome:HGNC:1996 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 SMTCK Summary Mitochondrial creatine kinase (MtCK) is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Sarcomeric mitochondrial creatine kinase has 80% homology with the coding exons of ubiquitous mitochondrial creatine kinase. This gene contains sequences homologous to several motifs that are shared among some nuclear genes encoding mitochondrial proteins and thus may be essential for the coordinated activation of these genes during mitochondrial biogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in heart (RPKM 295.9) and prostate (RPKM 10.7) See more Orthologs mouse all
CKMT2-AS1, Official Symbol CKMT2-AS1provided by HGNC Official Full Name CKMT2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:48997 See related Ensembl:ENSG00000247572 AllianceGenome:HGNC:48997 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 Ubiquitous expression in ovary (RPKM 3.8), thyroid (RPKM 2.5) and 25 other tissues See more
CKS1B, Official Symbol CKS1Bprovided by HGNC Official Full Name CDC28 protein kinase regulatory subunit 1Bprovided by HGNC Primary source HGNC:HGNC:19083 See related Ensembl:ENSG00000173207 MIM:116900; AllianceGenome:HGNC:19083 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 CKS1; ckshs1; PNAS-16; PNAS-18 Summary CKS1B protein binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. The CKS1B mRNA is found to be expressed in different patterns through the cell cycle in HeLa cells, which reflects a specialized role for the encoded protein. At least two transcript variants have been identified for this gene, and it appears that only one of them encodes a protein. [provided by RefSeq, Sep 2008] Expression Ubiquitous expression in bone marrow (RPKM 29.0), fat (RPKM 22.7) and 24 other tissues See more Orthologs mouse all
CKS1BP2, Official Symbol CKS1BP2provided by HGNC Official Full Name CDC28 protein kinase regulatory subunit 1B pseudogene 2provided by HGNC Primary source HGNC:HGNC:24232 See related AllianceGenome:HGNC:24232 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 bA192N10.2
CKS1BP3, Official Symbol CKS1BP3provided by HGNC Official Full Name CDC28 protein kinase regulatory subunit 1B pseudogene 3provided by HGNC Primary source HGNC:HGNC:24233 See related AllianceGenome:HGNC:24233 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CKS1BP7, Official Symbol CKS1BP7provided by HGNC Official Full Name CDC28 protein kinase regulatory subunit 1B pseudogene 7provided by HGNC Primary source HGNC:HGNC:1999 See related AllianceGenome:HGNC:1999 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 CKS1; CKS1A
CKS2, Official Symbol CKS2provided by HGNC Official Full Name CDC28 protein kinase regulatory subunit 2provided by HGNC Primary source HGNC:HGNC:2000 See related Ensembl:ENSG00000123975 MIM:116901; AllianceGenome:HGNC:2000 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 CKSHS2 Summary CKS2 protein binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. The CKS2 mRNA is found to be expressed in different patterns through the cell cycle in HeLa cells, which reflects specialized role for the encoded protein. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 88.8), bone marrow (RPKM 46.4) and 21 other tissues See more Orthologs mouse all
CLASP1, Official Symbol CLASP1provided by HGNC Official Full Name cytoplasmic linker associated protein 1provided by HGNC Primary source HGNC:HGNC:17088 See related Ensembl:ENSG00000074054 MIM:605852; AllianceGenome:HGNC:17088 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 MAST1 Summary CLASPs, such as CLASP1, are nonmotor microtubule-associated proteins that interact with CLIPs (e.g., CLIP170; MIM 179838). CLASP1 is involved in the regulation of microtubule dynamics at the kinetochore and throughout the spindle (Maiato et al., 2003 [PubMed 12837247]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in brain (RPKM 7.9), testis (RPKM 6.1) and 25 other tissues See more Orthologs mouse all
CLASP2, Official Symbol CLASP2provided by HGNC Official Full Name cytoplasmic linker associated protein 2provided by HGNC Primary source HGNC:HGNC:17078 See related Ensembl:ENSG00000163539 MIM:605853; AllianceGenome:HGNC:17078 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 Enables cytoskeletal protein binding activity; dystroglycan binding activity; and protein tyrosine kinase binding activity. Involved in several processes, including microtubule cytoskeleton organization; positive regulation of extracellular matrix organization; and regulation of supramolecular fiber organization. Located in several cellular components, including basal cortex; cortical microtubule plus-end; and ruffle membrane. Colocalizes with focal adhesion; kinetochore; and microtubule cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 43.5), adrenal (RPKM 10.5) and 22 other tissues See more Orthologs mouse all
CLASRP, Official Symbol CLASRPprovided by HGNC Official Full Name CLK4 associating serine/arginine rich proteinprovided by HGNC Primary source HGNC:HGNC:17731 See related Ensembl:ENSG00000104859 MIM:618532; AllianceGenome:HGNC:17731 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 CLASP; SWAP2; SFRS16 Summary Predicted to be involved in RNA splicing and mRNA processing. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 17.9), spleen (RPKM 17.1) and 25 other tissues See more Orthologs mouse all
CLBA1, Official Symbol CLBA1provided by HGNC Official Full Name clathrin binding box of aftiphilin containing 1provided by HGNC Primary source HGNC:HGNC:20126 See related Ensembl:ENSG00000140104 AllianceGenome:HGNC:20126 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 C14orf79 Summary Predicted to enable clathrin binding activity. Predicted to be involved in intracellular transport. Predicted to be part of AP-1 adaptor complex. Predicted to be active in trans-Golgi network membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 5.0), thyroid (RPKM 3.6) and 25 other tissues See more Orthologs mouse all
CLC, Official Symbol CLCprovided by HGNC Official Full Name Charcot-Leyden crystal galectinprovided by HGNC Primary source HGNC:HGNC:2014 See related Ensembl:ENSG00000105205 MIM:153310; AllianceGenome:HGNC:2014 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 GAL10; Gal-10; LGALS10; LGALS10A; LPPL_HUMAN Summary Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene is a lysophospholipase expressed in eosinophils and basophils. It hydrolyzes lysophosphatidylcholine to glycerophosphocholine and a free fatty acid. This protein may possess carbohydrate or IgE-binding activities. It is both structurally and functionally related to the galectin family of beta-galactoside binding proteins. It may be associated with inflammation and some myeloid leukemias. [provided by RefSeq, Jul 2008] Expression Biased expression in bone marrow (RPKM 112.7), urinary bladder (RPKM 16.5) and 5 other tissues See more Orthologs all
CLCA1, Official Symbol CLCA1provided by HGNC Official Full Name chloride channel accessory 1provided by HGNC Primary source HGNC:HGNC:2015 See related Ensembl:ENSG00000016490 MIM:603906; AllianceGenome:HGNC:2015 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 CACC; GOB5; CACC1; CLCRG1; CaCC-1; hCLCA1; hCaCC-1 Summary This gene encodes a member of the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same region on chromosome 1p31-p22 and share a high degree of homology in size, sequence, and predicted structure, but differ significantly in their tissue distributions. The encoded protein is expressed as a precursor protein that is processed into two cell-surface-associated subunits, although the site at which the precursor is cleaved has not been precisely determined. The encoded protein may be involved in mediating calcium-activated chloride conductance in the intestine. [provided by RefSeq, Jul 2008] Expression Biased expression in small intestine (RPKM 634.9), duodenum (RPKM 392.5) and 2 other tissues See more Orthologs mouse all
CLCA2, Official Symbol CLCA2provided by HGNC Official Full Name chloride channel accessory 2provided by HGNC Primary source HGNC:HGNC:2016 See related Ensembl:ENSG00000137975 MIM:604003; AllianceGenome:HGNC:2016 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 CACC; CACC3; CLCRG2; CaCC-3 Summary This gene encodes a member of the calcium-activated chloride channel regulator (CLCR) family of proteins. Members of this family regulate the transport of chloride across the plasma membrane. The encoded protein is autoproteolytically processed to generate N- and C- terminal fragments. Expression of this gene is upregulated by the tumor suppressor protein p53 in response to DNA damage. In breast cancer, expression of this gene is downregulated and the encoded protein may inhibit migration and invasion while promoting mesenchymal-to-epithelial transition in cancer cell lines. [provided by RefSeq, Sep 2016] Expression Biased expression in esophagus (RPKM 67.2), skin (RPKM 43.6) and 1 other tissue See more Orthologs mouse all
CLCA4, Official Symbol CLCA4provided by HGNC Official Full Name chloride channel accessory 4provided by HGNC Primary source HGNC:HGNC:2018 See related Ensembl:ENSG00000016602 MIM:616857; AllianceGenome:HGNC:2018 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 CaCC; CaCC2 Summary The protein encoded by this gene belongs to the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same site on chromosome 1p31-p22 and share high degrees of homology in size, sequence and predicted structure, but differ significantly in their tissue distributions. Alternative splicing results in multiple transcript variants, only one of which is thought to be protein coding. [provided by RefSeq, Dec 2008] Expression Biased expression in colon (RPKM 204.3), esophagus (RPKM 195.4) and 1 other tissue See more Orthologs all
CLCA4-AS1, Official Symbol CLCA4-AS1provided by HGNC Official Full Name CLCA4 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:54055 See related Ensembl:ENSG00000236915 AllianceGenome:HGNC:54055 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 Biased expression in colon (RPKM 17.6), esophagus (RPKM 12.6) and 5 other tissues See more
CLCC1, Official Symbol CLCC1provided by HGNC Official Full Name chloride channel CLIC like 1provided by HGNC Primary source HGNC:HGNC:29675 See related Ensembl:ENSG00000121940 MIM:617539; AllianceGenome:HGNC:29675 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 MCLC; RP32 Summary Predicted to enable chloride channel activity. Predicted to be involved in chloride transport. Located in endoplasmic reticulum and mitochondria-associated endoplasmic reticulum membrane. Implicated in retinitis pigmentosa 32. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 9.3), thyroid (RPKM 9.3) and 25 other tissues See more Orthologs mouse all
CLCF1, Official Symbol CLCF1provided by HGNC Official Full Name cardiotrophin like cytokine factor 1provided by HGNC Primary source HGNC:HGNC:17412 See related Ensembl:ENSG00000175505 MIM:607672; AllianceGenome:HGNC:17412 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 CLC; NR6; BSF3; NNT1; BSF-3; CISS2; NNT-1 Summary This gene is a member of the glycoprotein (gp)130 cytokine family and encodes cardiotrophin-like cytokine factor 1 (CLCF1). CLCF1 forms a heterodimer complex with cytokine receptor-like factor 1 (CRLF1). This dimer competes with ciliary neurotrophic factor (CNTF) for binding to the ciliary neurotrophic factor receptor (CNTFR) complex, and activates the Jak-STAT signaling cascade. CLCF1 can be actively secreted from cells by forming a complex with soluble type I CRLF1 or soluble CNTFR. CLCF1 is a potent neurotrophic factor, B-cell stimulatory agent and neuroendocrine modulator of pituitary corticotroph function. Defects in CLCF1 cause cold-induced sweating syndrome 2 (CISS2). This syndrome is characterized by a profuse sweating after exposure to cold as well as congenital physical abnormalities of the head and spine. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009] Expression Broad expression in gall bladder (RPKM 9.3), endometrium (RPKM 7.5) and 21 other tissues See more Orthologs mouse all
CLCN1, Official Symbol CLCN1provided by HGNC Official Full Name chloride voltage-gated channel 1provided by HGNC Primary source HGNC:HGNC:2019 See related Ensembl:ENSG00000188037 MIM:118425; AllianceGenome:HGNC:2019 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 CLC1 Summary The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012] Expression Low expression observed in reference dataset See more Orthologs mouse all
CLCN2, Official Symbol CLCN2provided by HGNC Official Full Name chloride voltage-gated channel 2provided by HGNC Primary source HGNC:HGNC:2020 See related Ensembl:ENSG00000114859 MIM:600570; AllianceGenome:HGNC:2020 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 CLC2; ECA2; ECA3; EGI3; EGMA; EJM6; EJM8; FHA2; FHII; CIC-2; EGI11; HALD2; LKPAT; clC-2 Summary This gene encodes a voltage-gated chloride channel. The encoded protein is a transmembrane protein that maintains chloride ion homeostasis in various cells. Defects in this gene may be a cause of certain epilepsies. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012] Expression Broad expression in testis (RPKM 8.7), colon (RPKM 7.2) and 24 other tissues See more Orthologs mouse all
CLCN3, Official Symbol CLCN3provided by HGNC Official Full Name chloride voltage-gated channel 3provided by HGNC Primary source HGNC:HGNC:2021 See related Ensembl:ENSG00000109572 MIM:600580; AllianceGenome:HGNC:2021 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 CLC3; ClC-3; NEDSBA; NEDHYBA Summary This gene encodes a member of the voltage-gated chloride channel (ClC) family. The encoded protein is present in all cell types and localized in plasma membranes and in intracellular vesicles. It is a multi-pass membrane protein which contains a ClC domain and two additional C-terminal CBS (cystathionine beta-synthase) domains. The ClC domain catalyzes the selective flow of Cl- ions across cell membranes, and the CBS domain may have a regulatory function. This protein plays a role in both acidification and transmitter loading of GABAergic synaptic vesicles, and in smooth muscle cell activation and neointima formation. This protein is required for lysophosphatidic acid (LPA)-activated Cl- current activity and fibroblast-to-myofibroblast differentiation. The protein activity is regulated by Ca(2+)/calmodulin-dependent protein kinase II (CaMKII) in glioma cells. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in brain (RPKM 27.7), colon (RPKM 19.9) and 25 other tissues See more Orthologs mouse all
CLCN3P1, Official Symbol CLCN3P1provided by HGNC Official Full Name chloride voltage-gated channel 3 pseudogene 1provided by HGNC Primary source HGNC:HGNC:49775 See related Ensembl:ENSG00000232000 AllianceGenome:HGNC:49775 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CLCN4, Official Symbol CLCN4provided by HGNC Official Full Name chloride voltage-gated channel 4provided by HGNC Primary source HGNC:HGNC:2022 See related Ensembl:ENSG00000073464 MIM:302910; AllianceGenome:HGNC:2022 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 CLC4; ClC-4; MRX15; MRX49; ClC-4A; MRXSRC Summary The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. Chloride channel 4 has an evolutionary conserved CpG island and is conserved in both mouse and hamster. This gene is mapped in close proximity to APXL (Apical protein Xenopus laevis-like) and OA1 (Ocular albinism type I), which are both located on the human X chromosome at band p22.3. The physiological role of chloride channel 4 remains unknown but may contribute to the pathogenesis of neuronal disorders. Alternate splicing results in two transcript variants that encode different proteins. [provided by RefSeq, Mar 2012] Expression Biased expression in brain (RPKM 20.8), heart (RPKM 5.1) and 10 other tissues See more Orthologs mouse all
CLCN5, Official Symbol CLCN5provided by HGNC Official Full Name chloride voltage-gated channel 5provided by HGNC Primary source HGNC:HGNC:2023 See related Ensembl:ENSG00000171365 MIM:300008; AllianceGenome:HGNC:2023 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 XRN; CLC5; XLRH; CLCK2; ClC-5; DENT1; DENTS; NPHL1; NPHL2; hCIC-K2 Summary This gene encodes a member of the ClC family of chloride ion channels and ion transporters. The encoded protein is primarily localized to endosomal membranes and may function to facilitate albumin uptake by the renal proximal tubule. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013] Expression Biased expression in kidney (RPKM 20.4), liver (RPKM 3.6) and 13 other tissues See more Orthologs mouse all
CLCN6, Official Symbol CLCN6provided by HGNC Official Full Name chloride voltage-gated channel 6provided by HGNC Primary source HGNC:HGNC:2024 See related Ensembl:ENSG00000011021 MIM:602726; AllianceGenome:HGNC:2024 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 CLC-6; CONRIBA Summary This gene encodes a member of the voltage-dependent chloride channel protein family. Members of this family can function as either chloride channels or antiporters. This protein is primarily localized to late endosomes and functions as a chloride/proton antiporter. Alternate splicing results in both coding and non-coding variants. Additional alternately spliced variants have been described but their full-length structure is unknown. [provided by RefSeq, Mar 2012] Expression Ubiquitous expression in brain (RPKM 13.0), testis (RPKM 10.2) and 24 other tissues See more Orthologs mouse all
CLCN7, Official Symbol CLCN7provided by HGNC Official Full Name chloride voltage-gated channel 7provided by HGNC Primary source HGNC:HGNC:2025 See related Ensembl:ENSG00000103249 MIM:602727; AllianceGenome:HGNC:2025 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 HOD; CLC7; CLC-7; OPTA2; OPTB4; PPP1R63 Summary The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in spleen (RPKM 16.9), kidney (RPKM 15.1) and 25 other tissues See more Orthologs mouse all
CLCNKA, Official Symbol CLCNKAprovided by HGNC Official Full Name chloride voltage-gated channel Kaprovided by HGNC Primary source HGNC:HGNC:2026 See related Ensembl:ENSG00000186510 MIM:602024; AllianceGenome:HGNC:2026 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 CLCK1; ClC-K1; hClC-Ka Summary This gene is a member of the CLC family of voltage-gated chloride channels. The encoded protein is predicted to have 12 transmembrane domains, and requires a beta subunit called barttin to form a functional channel. It is thought to function in salt reabsorption in the kidney and potassium recycling in the inner ear. The gene is highly similar to CLCNKB, which is located 10 kb downstream from this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in kidney (RPKM 55.9), salivary gland (RPKM 4.5) and 1 other tissue See more Orthologs all
CLCNKB, Official Symbol CLCNKBprovided by HGNC Official Full Name chloride voltage-gated channel Kbprovided by HGNC Primary source HGNC:HGNC:2027 See related Ensembl:ENSG00000184908 MIM:602023; AllianceGenome:HGNC:2027 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 CLCKB; ClC-K2; ClC-Kb Summary The protein encoded by this gene is a member of the family of voltage-gated chloride channels. Chloride channels have several functions, including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. This gene is expressed predominantly in the kidney and may be important for renal salt reabsorption. Mutations in this gene are associated with autosomal recessive Bartter syndrome type 3 (BS3). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] Expression Biased expression in kidney (RPKM 65.3), salivary gland (RPKM 9.9) and 1 other tissue See more Orthologs all
CLCP1, Official Symbol CLCP1provided by HGNC Official Full Name Charcot-Leyden crystal protein pseudogene 1provided by HGNC Primary source HGNC:HGNC:19257 See related AllianceGenome:HGNC:19257 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo