psui3905/ncbi_genes_summary huggingface dataset:
CHST9, Official Symbol CHST9provided by HGNC Official Full Name carbohydrate sulfotransferase 9provided by HGNC Primary source HGNC:HGNC:19898 See related Ensembl:ENSG00000154080 MIM:610191; AllianceGenome:HGNC:19898 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 GalNAc4ST2; GALNAC4ST-2 Summary The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. Sulfate groups on carbohydrates confer highly specific functions to glycoproteins, glycolipids, and proteoglycans, and are critical for cell-cell interaction, signal transduction, and embryonic development. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Aug 2011] Expression Biased expression in spleen (RPKM 1.3), testis (RPKM 1.2) and 13 other tissues See more Orthologs mouse all
CHSY1, Official Symbol CHSY1provided by HGNC Official Full Name chondroitin sulfate synthase 1provided by HGNC Primary source HGNC:HGNC:17198 See related Ensembl:ENSG00000131873 MIM:608183; AllianceGenome:HGNC:17198 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 CHSY; CSS1; TPBS; ChSy-1 Summary This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. These enzymes possess dual glucuronyltransferase and galactosaminyltransferase activity and play critical roles in the biosynthesis of chondroitin sulfate, a glycosaminoglycan involved in many biological processes including cell proliferation and morphogenesis. Decreased expression of this gene may play a role in colorectal cancer, and mutations in this gene are a cause of temtamy preaxial brachydactyly syndrome. [provided by RefSeq, Dec 2011] Expression Ubiquitous expression in placenta (RPKM 23.5), gall bladder (RPKM 17.8) and 24 other tissues See more Orthologs mouse all
CHSY3, Official Symbol CHSY3provided by HGNC Official Full Name chondroitin sulfate synthase 3provided by HGNC Primary source HGNC:HGNC:24293 See related Ensembl:ENSG00000198108 MIM:609963; AllianceGenome:HGNC:24293 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 CSS3; CHSY2 Summary CSS3 is a glycosyltransferase that has both glucuronyltransferase and N-acetylgalactosaminyltransferase activities (Yada et al., 2003 [PubMed 12907687]).[supplied by OMIM, Mar 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
CHTF18, Official Symbol CHTF18provided by HGNC Official Full Name chromosome transmission fidelity factor 18provided by HGNC Primary source HGNC:HGNC:18435 See related Ensembl:ENSG00000127586 MIM:613201; AllianceGenome:HGNC:18435 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 CHL12; Ctf18; RUVBL; C16orf41; C321D2.2; C321D2.3; C321D2.4 Summary This gene encodes a protein which is a component of a replication factor C (RFC) complex, which loads proliferating cell nuclear antigen (PCNA) on to DNA during the S phase of cell cycle. The encoded protein may interact with other proteins, including RFC complex 3, to form a clamp loader complex that plays a role in sister chromatid cohesion during metaphase-anaphase transition. [provided by RefSeq, Jan 2016] Expression Broad expression in bone marrow (RPKM 7.1), testis (RPKM 6.3) and 24 other tissues See more Orthologs mouse all
CHTF8, Official Symbol CHTF8provided by HGNC Official Full Name chromosome transmission fidelity factor 8provided by HGNC Primary source HGNC:HGNC:24353 See related Ensembl:ENSG00000168802 MIM:613202; AllianceGenome:HGNC:24353 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 CTF8; DERPC Summary This gene encodes a short protein that forms part of the Ctf18 replication factor C (RFC) complex that occurs in both yeast and mammals. The heteroheptameric RFC complex plays a role in sister chromatid cohesion and may load the replication clamp PCNA (proliferating cell nuclear antigen) onto DNA during DNA replication and repair. This gene is ubiquitously expressed and has been shown to have reduced expression in renal and prostate tumors. Alternatively spliced transcript variants have been described. This gene has a pseudogene on chromosome X. [provided by RefSeq, Oct 2018] Expression Ubiquitous expression in thyroid (RPKM 29.7), kidney (RPKM 27.6) and 25 other tissues See more Orthologs mouse all
CHTF8P1, Official Symbol CHTF8P1provided by HGNC Official Full Name chromosome transmission fidelity factor 8 pseudogene 1provided by HGNC Primary source HGNC:HGNC:35443 See related AllianceGenome:HGNC:35443 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 CTF8P; CHTF8P
CHTOP, Official Symbol CHTOPprovided by HGNC Official Full Name chromatin target of PRMT1provided by HGNC Primary source HGNC:HGNC:24511 See related Ensembl:ENSG00000160679 MIM:614206; AllianceGenome:HGNC:24511 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 FOP; SRAG; SRAG-3; SRAG-5; pp7704; C1orf77; FL-SRAG; C10orf77 Summary This gene encodes a small nuclear protein that is characterized by an arginine and glycine rich region. This protein may have an important role in the regulation of fetal globin gene expression and in the activation of estrogen-responsive genes. A recent study reported that this protein binds 5-hydroxymethylcytosine (5hmC) and associates with an arginine methyltransferase complex (methylosome), which promotes methylation of arginine 3 of histone H4 (H4R3) and activation of genes involved in glioblastomagenesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Nov 2015] Expression Ubiquitous expression in testis (RPKM 21.4), spleen (RPKM 20.4) and 25 other tissues See more Orthologs mouse all
CHUK, Official Symbol CHUKprovided by HGNC Official Full Name component of inhibitor of nuclear factor kappa B kinase complexprovided by HGNC Primary source HGNC:HGNC:1974 See related Ensembl:ENSG00000213341 MIM:600664; AllianceGenome:HGNC:1974 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 BPS2; IKK1; IKKA; IKBKA; IKK-1; TCF16; NFKBIKA; IKK-alpha Summary This gene encodes a member of the serine/threonine protein kinase family. The encoded protein, a component of a cytokine-activated protein complex that is an inhibitor of the essential transcription factor NF-kappa-B complex, phosphorylates sites that trigger the degradation of the inhibitor via the ubiquination pathway, thereby activating the transcription factor. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in kidney (RPKM 4.9), bone marrow (RPKM 4.7) and 25 other tissues See more Orthologs mouse all
CHURC1, Official Symbol CHURC1provided by HGNC Official Full Name churchill domain containing 1provided by HGNC Primary source HGNC:HGNC:20099 See related Ensembl:ENSG00000258289 MIM:608577; AllianceGenome:HGNC:20099 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 chch; My015; C14orf52 Summary Predicted to enable zinc ion binding activity. Predicted to be involved in positive regulation of transcription, DNA-templated. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 18.1), brain (RPKM 17.2) and 25 other tissues See more Orthologs mouse all
CHURC1-FNTB, Official Symbol CHURC1-FNTBprovided by HGNC Official Full Name CHURC1-FNTB readthroughprovided by HGNC Primary source HGNC:HGNC:42960 See related Ensembl:ENSG00000125954 AllianceGenome:HGNC:42960 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 FNTB; FTase-beta Summary This locus represents naturally occurring read-through transcription between the neighboring CHURC1 (churchill domain containing 1) and FNTB (farnesyltransferase, CAAX box, beta) on chromosome 14. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Feb 2011] Expression Ubiquitous expression in testis (RPKM 10.7), brain (RPKM 10.1) and 25 other tissues See more Orthologs all
CIAO1, Official Symbol CIAO1provided by HGNC Official Full Name cytosolic iron-sulfur assembly component 1provided by HGNC Primary source HGNC:HGNC:14280 See related Ensembl:ENSG00000144021 MIM:604333; AllianceGenome:HGNC:14280 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 CIA1; WDR39 Summary Involved in iron-sulfur cluster assembly and protein maturation by iron-sulfur cluster transfer. Located in cytoplasm. Part of CIA complex and MMXD complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 18.1), kidney (RPKM 17.3) and 25 other tissues See more Orthologs mouse all
CIAO2A, Official Symbol CIAO2Aprovided by HGNC Official Full Name cytosolic iron-sulfur assembly component 2Aprovided by HGNC Primary source HGNC:HGNC:26235 See related Ensembl:ENSG00000166797 MIM:618382; AllianceGenome:HGNC:26235 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 CIA2A; FAM96A Summary Predicted to enable metal ion binding activity. Involved in iron-sulfur cluster assembly and protein maturation by iron-sulfur cluster transfer. Located in cytosol and nucleoplasm. Part of CIA complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in liver (RPKM 13.5), duodenum (RPKM 11.9) and 25 other tissues See more Orthologs mouse all
CIAO2B, Official Symbol CIAO2Bprovided by HGNC Official Full Name cytosolic iron-sulfur assembly component 2Bprovided by HGNC Primary source HGNC:HGNC:24261 See related Ensembl:ENSG00000166595 MIM:614778; AllianceGenome:HGNC:24261 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 CIA2B; MIP18; FAM96B; CGI-128 Summary Involved in chromosome segregation; iron-sulfur cluster assembly; and protein maturation by iron-sulfur cluster transfer. Located in cytosol; nucleoplasm; and spindle. Part of CIA complex and MMXD complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 31.6), heart (RPKM 26.9) and 25 other tissues See more Orthologs mouse all
CIAO3, Official Symbol CIAO3provided by HGNC Official Full Name cytosolic iron-sulfur assembly component 3provided by HGNC Primary source HGNC:HGNC:14179 See related Ensembl:ENSG00000103245 MIM:611118; AllianceGenome:HGNC:14179 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 PRN; HPRN; IOP1; NAR1; LET1L; NARFL Summary Predicted to enable 4 iron, 4 sulfur cluster binding activity. Involved in several processes, including iron-sulfur cluster assembly; oxygen homeostasis; and response to hypoxia. Part of CIA complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 7.4), prostate (RPKM 7.1) and 25 other tissues See more Orthologs mouse all
CIAPIN1, Official Symbol CIAPIN1provided by HGNC Official Full Name cytokine induced apoptosis inhibitor 1provided by HGNC Primary source HGNC:HGNC:28050 See related Ensembl:ENSG00000005194 MIM:608943; AllianceGenome:HGNC:28050 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 DRE2; CIAE2; PRO0915; Anamorsin Summary CIAPIN1 is a cytokine-induced inhibitor of apoptosis with no relation to apoptosis regulatory molecules of the BCL2 (MIM 151430) or CASP (see MIM 147678) families. Expression of CIAPIN1 is dependent on growth factor stimulation (Shibayama et al., 2004 [PubMed 14970183]).[supplied by OMIM, Mar 2008] Expression Broad expression in testis (RPKM 38.4), placenta (RPKM 14.2) and 24 other tissues See more Orthologs mouse all
CIAPIN1P, Official Symbol CIAPIN1Pprovided by HGNC Official Full Name cytokine induced apoptosis inhibitor 1 pseudogeneprovided by HGNC Primary source HGNC:HGNC:31087 See related AllianceGenome:HGNC:31087 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 HsT2384
CIART, Official Symbol CIARTprovided by HGNC Official Full Name circadian associated repressor of transcriptionprovided by HGNC Primary source HGNC:HGNC:25200 See related Ensembl:ENSG00000159208 MIM:615782; AllianceGenome:HGNC:25200 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 GM129; CHRONO; C1orf51 Summary Predicted to enable E-box binding activity. Predicted to be involved in circadian regulation of gene expression; locomotor rhythm; and negative regulation of transcription, DNA-templated. Predicted to be located in PML body. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in heart (RPKM 6.9), thyroid (RPKM 5.6) and 24 other tissues See more Orthologs mouse all
CIB1, Official Symbol CIB1provided by HGNC Official Full Name calcium and integrin binding 1provided by HGNC Primary source HGNC:HGNC:16920 See related Ensembl:ENSG00000185043 MIM:602293; AllianceGenome:HGNC:16920 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 CIB; CIBP; KIP1; PRKDCIP; SIP2-28 Summary This gene encodes a member of the EF-hand domain-containing calcium-binding superfamily. The encoded protein interacts with many other proteins, including the platelet integrin alpha-IIb-beta-3, DNA-dependent protein kinase, presenilin-2, focal adhesion kinase, p21 activated kinase, and protein kinase D. The encoded protein may be involved in cell survival and proliferation, and is associated with several disease states including cancer and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013] Expression Ubiquitous expression in colon (RPKM 49.7), adrenal (RPKM 37.7) and 25 other tissues See more Orthologs mouse all
CIB2, Official Symbol CIB2provided by HGNC Official Full Name calcium and integrin binding family member 2provided by HGNC Primary source HGNC:HGNC:24579 See related Ensembl:ENSG00000136425 MIM:605564; AllianceGenome:HGNC:24579 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 KIP2; USH1J; DFNB48 Summary The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. The encoded protein is a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs), and it is involved in photoreceptor cell maintenance. Mutations in this gene cause deafness, autosomal recessive, 48 (DFNB48), and also Usher syndrome 1J (USH1J). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Expression Broad expression in small intestine (RPKM 6.5), testis (RPKM 5.9) and 23 other tissues See more Orthologs mouse all
CIB3, Official Symbol CIB3provided by HGNC Official Full Name calcium and integrin binding family member 3provided by HGNC Primary source HGNC:HGNC:24580 See related Ensembl:ENSG00000141977 MIM:610645; AllianceGenome:HGNC:24580 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 KIP3 Summary This gene product shares a high degree of sequence similarity with DNA-dependent protein kinase catalytic subunit-interacting protein 2 in human and mouse, and like them may bind the catalytic subunit of DNA-dependent protein kinases. The exact function of this gene is not known. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Expression Low expression observed in reference dataset See more Orthologs mouse all
CIB4, Official Symbol CIB4provided by HGNC Official Full Name calcium and integrin binding family member 4provided by HGNC Primary source HGNC:HGNC:33703 See related Ensembl:ENSG00000157884 MIM:610646; AllianceGenome:HGNC:33703 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 KIP4 Summary Enables calcium ion binding activity and magnesium ion binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
CIBAR1, Official Symbol CIBAR1provided by HGNC Official Full Name CBY1 interacting BAR domain containing 1provided by HGNC Primary source HGNC:HGNC:30452 See related Ensembl:ENSG00000188343 MIM:617273; AllianceGenome:HGNC:30452 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 PAPA9; BARMR1; FAM92A; FAM92A1 Summary Enables phospholipid binding activity. Involved in several processes, including inner mitochondrial membrane organization; limb morphogenesis; and membrane tubulation. Located in several cellular components, including centriole; ciliary base; and mitochondrial crista. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 13.2), ovary (RPKM 4.0) and 25 other tissues See more Orthologs mouse all
CIBAR1P2, Official Symbol CIBAR1P2provided by HGNC Official Full Name CIBAR1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:32287 See related Ensembl:ENSG00000230219 AllianceGenome:HGNC:32287 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FAM92A3; FAM92A1P2
CIBAR2, Official Symbol CIBAR2provided by HGNC Official Full Name CBY1 interacting BAR domain containing 2provided by HGNC Primary source HGNC:HGNC:24781 See related Ensembl:ENSG00000153789 MIM:617274; AllianceGenome:HGNC:24781 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 FAM92B Summary Predicted to be involved in cilium assembly. Predicted to be located in centriole and cytoplasm. Predicted to be active in ciliary basal body and ciliary transition zone. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in lung (RPKM 3.3), endometrium (RPKM 0.5) and 4 other tissues See more Orthologs mouse all
CIC, Official Symbol CICprovided by HGNC Official Full Name capicua transcriptional repressorprovided by HGNC Primary source HGNC:HGNC:14214 See related Ensembl:ENSG00000079432 MIM:612082; AllianceGenome:HGNC:14214 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 MRD45 Summary The protein encoded by this gene is an ortholog of the Drosophila melanogaster capicua gene, and is a member of the high mobility group (HMG)-box superfamily of transcriptional repressors. This protein contains a conserved HMG domain that is involved in DNA binding and nuclear localization, and a conserved C-terminus. Studies suggest that the N-terminal region of this protein interacts with Atxn1 (GeneID:6310), to form a transcription repressor complex, and in vitro studies suggest that polyglutamine-expansion of ATXN1 may alter the repressor activity of this complex. Mutations in this gene have been associated with olidogdendrogliomas (PMID:21817013). In addition, translocation events resulting in gene fusions of this gene with both DUX4 (GeneID:100288687) and FOXO4 (GeneID:4303) have been associated with round cell sarcomas. There are multiple pseudogenes of this gene found on chromosomes 1, 4, 6, 7, 16, 20, and the Y chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015] Expression Ubiquitous expression in testis (RPKM 16.0), endometrium (RPKM 12.0) and 25 other tissues See more Orthologs mouse all
CICP1, Official Symbol CICP1provided by HGNC Official Full Name capicua transcriptional repressor pseudogene 1provided by HGNC Primary source HGNC:HGNC:23936 See related AllianceGenome:HGNC:23936 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CICP11, Official Symbol CICP11provided by HGNC Official Full Name capicua transcriptional repressor pseudogene 11provided by HGNC Primary source HGNC:HGNC:37903 See related AllianceGenome:HGNC:37903 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CICP12, Official Symbol CICP12provided by HGNC Official Full Name capicua transcriptional repressor pseudogene 12provided by HGNC Primary source HGNC:HGNC:37905 See related Ensembl:ENSG00000225270 AllianceGenome:HGNC:37905 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CICP13, Official Symbol CICP13provided by HGNC Official Full Name capicua transcriptional repressor pseudogene 13provided by HGNC Primary source HGNC:HGNC:37907 See related AllianceGenome:HGNC:37907 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CICP15, Official Symbol CICP15provided by HGNC Official Full Name capicua transcriptional repressor pseudogene 15provided by HGNC Primary source HGNC:HGNC:38549 See related AllianceGenome:HGNC:38549 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CICP18, Official Symbol CICP18provided by HGNC Official Full Name capicua transcriptional repressor pseudogene 18provided by HGNC Primary source HGNC:HGNC:48828 See related AllianceGenome:HGNC:48828 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CICP2, Official Symbol CICP2provided by HGNC Official Full Name capicua transcriptional repressor pseudogene 2provided by HGNC Primary source HGNC:HGNC:23935 See related AllianceGenome:HGNC:23935 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CICP21, Official Symbol CICP21provided by HGNC Official Full Name capicua transcriptional repressor pseudogene 21provided by HGNC Primary source HGNC:HGNC:48836 See related Ensembl:ENSG00000278455 AllianceGenome:HGNC:48836 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CICP22, Official Symbol CICP22provided by HGNC Official Full Name capicua transcriptional repressor pseudogene 22provided by HGNC Primary source HGNC:HGNC:48838 See related AllianceGenome:HGNC:48838 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CICP25, Official Symbol CICP25provided by HGNC Official Full Name capicua transcriptional repressor pseudogene 25provided by HGNC Primary source HGNC:HGNC:48837 See related AllianceGenome:HGNC:48837 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CICP27, Official Symbol CICP27provided by HGNC Official Full Name capicua transcriptional repressor pseudogene 27provided by HGNC Primary source HGNC:HGNC:48835 See related Ensembl:ENSG00000233750 AllianceGenome:HGNC:48835 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CICP28, Official Symbol CICP28provided by HGNC Official Full Name capicua transcriptional repressor pseudogene 28provided by HGNC Primary source HGNC:HGNC:48832 See related Ensembl:ENSG00000277253 AllianceGenome:HGNC:48832 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CICP4, Official Symbol CICP4provided by HGNC Official Full Name capicua transcriptional repressor pseudogene 4provided by HGNC Primary source HGNC:HGNC:37753 See related AllianceGenome:HGNC:37753 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CICP7, Official Symbol CICP7provided by HGNC Official Full Name capicua transcriptional repressor pseudogene 7provided by HGNC Primary source HGNC:HGNC:37756 See related AllianceGenome:HGNC:37756 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CIDEA, Official Symbol CIDEAprovided by HGNC Official Full Name cell death inducing DFFA like effector aprovided by HGNC Primary source HGNC:HGNC:1976 See related Ensembl:ENSG00000176194 MIM:604440; AllianceGenome:HGNC:1976 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 CIDE-A Summary This gene encodes the homolog of the mouse protein Cidea that has been shown to activate apoptosis. This activation of apoptosis is inhibited by the DNA fragmentation factor DFF45 but not by caspase inhibitors. Mice that lack functional Cidea have higher metabolic rates, higher lipolysis in brown adipose tissue and higher core body temperatures when subjected to cold. These mice are also resistant to diet-induced obesity and diabetes. This suggests that in mice this gene product plays a role in thermogenesis and lipolysis. Alternatively spliced transcripts have been identified. [provided by RefSeq, Aug 2010] Expression Restricted expression toward fat (RPKM 78.2) See more Orthologs mouse all
CIDEB, Official Symbol CIDEBprovided by HGNC Official Full Name cell death inducing DFFA like effector bprovided by HGNC Primary source HGNC:HGNC:1977 See related Ensembl:ENSG00000136305 MIM:604441; AllianceGenome:HGNC:1977 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 identical protein binding activity. Involved in activation of cysteine-type endopeptidase activity; positive regulation of cell death; and positive regulation of release of cytochrome c from mitochondria. Acts upstream of or within apoptotic process. Located in cytosol and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in liver (RPKM 36.3), duodenum (RPKM 31.8) and 24 other tissues See more Orthologs mouse all
CIDEC, Official Symbol CIDECprovided by HGNC Official Full Name cell death inducing DFFA like effector cprovided by HGNC Primary source HGNC:HGNC:24229 See related Ensembl:ENSG00000187288 MIM:612120; AllianceGenome:HGNC:24229 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 CIDE3; FPLD5; FSP27; CIDE-3 Summary This gene encodes a member of the cell death-inducing DNA fragmentation factor-like effector family. Members of this family play important roles in apoptosis. The encoded protein promotes lipid droplet formation in adipocytes and may mediate adipocyte apoptosis. This gene is regulated by insulin and its expression is positively correlated with insulin sensitivity. Mutations in this gene may contribute to insulin resistant diabetes. A pseudogene of this gene is located on the short arm of chromosome 3. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010] Expression Biased expression in fat (RPKM 484.8), small intestine (RPKM 36.2) and 1 other tissue See more Orthologs mouse all
CIDECP1, Official Symbol CIDECP1provided by HGNC Official Full Name CIDEC pseudogene 1provided by HGNC Primary source HGNC:HGNC:24230 See related Ensembl:ENSG00000186162 AllianceGenome:HGNC:24230 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CICE; CIDECP Expression Ubiquitous expression in bone marrow (RPKM 9.3), brain (RPKM 7.9) and 25 other tissues See more
CIITA, Official Symbol CIITAprovided by HGNC Official Full Name class II major histocompatibility complex transactivatorprovided by HGNC Primary source HGNC:HGNC:7067 See related Ensembl:ENSG00000179583 MIM:600005; AllianceGenome:HGNC:7067 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 C2TA; NLRA; MHC2TA; CIITAIV Summary This gene encodes a protein with an acidic transcriptional activation domain, 4 LRRs (leucine-rich repeats) and a GTP binding domain. The protein is located in the nucleus and acts as a positive regulator of class II major histocompatibility complex gene transcription, and is referred to as the "master control factor" for the expression of these genes. The protein also binds GTP and uses GTP binding to facilitate its own transport into the nucleus. Once in the nucleus it does not bind DNA but rather uses an intrinsic acetyltransferase (AT) activity to act in a coactivator-like fashion. Mutations in this gene have been associated with bare lymphocyte syndrome type II (also known as hereditary MHC class II deficiency or HLA class II-deficient combined immunodeficiency), increased susceptibility to rheumatoid arthritis, multiple sclerosis, and possibly myocardial infarction. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013] Expression Broad expression in spleen (RPKM 12.7), lymph node (RPKM 11.9) and 19 other tissues See more Orthologs mouse all
CILK1, Official Symbol CILK1provided by HGNC Official Full Name ciliogenesis associated kinase 1provided by HGNC Primary source HGNC:HGNC:21219 See related Ensembl:ENSG00000112144 MIM:612325; AllianceGenome:HGNC:21219 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 ECO; ICK; MRK; LCK2; hICK; EJM10 Summary Eukaryotic protein kinases are enzymes that belong to a very extensive family of proteins which share a conserved catalytic core common with both serine/threonine and tyrosine protein kinases. This gene encodes an intestinal serine/threonine kinase harboring a dual phosphorylation site found in mitogen-activating protein (MAP) kinases. The protein localizes to the intestinal crypt region and is thought to be important in intestinal epithelial cell proliferation and differentiation. Alternative splicing has been observed at this locus and two variants, encoding the same isoform, have been identified. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in adrenal (RPKM 9.9), placenta (RPKM 5.9) and 25 other tissues See more Orthologs mouse all
CILP, Official Symbol CILPprovided by HGNC Official Full Name cartilage intermediate layer proteinprovided by HGNC Primary source HGNC:HGNC:1980 See related Ensembl:ENSG00000138615 MIM:603489; AllianceGenome:HGNC:1980 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 CILP1; CILP-1; HsT18872 Summary Major alterations in the composition of the cartilage extracellular matrix occur in joint disease, such as osteoarthrosis. This gene encodes the cartilage intermediate layer protein (CILP), which increases in early osteoarthrosis cartilage. The encoded protein was thought to encode a protein precursor for two different proteins; an N-terminal CILP and a C-terminal homolog of NTPPHase, however, later studies identified no nucleotide pyrophosphatase phosphodiesterase (NPP) activity. The full-length and the N-terminal domain of this protein was shown to function as an IGF-1 antagonist. An allelic variant of this gene has been associated with lumbar disc disease. [provided by RefSeq, Sep 2010] Expression Biased expression in gall bladder (RPKM 29.3), fat (RPKM 19.1) and 12 other tissues See more Orthologs mouse all
CILP2, Official Symbol CILP2provided by HGNC Official Full Name cartilage intermediate layer protein 2provided by HGNC Primary source HGNC:HGNC:24213 See related Ensembl:ENSG00000160161 MIM:612419; AllianceGenome:HGNC:24213 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 CLIP-2 Summary Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 2.1), gall bladder (RPKM 1.1) and 8 other tissues See more Orthologs mouse all
CINP, Official Symbol CINPprovided by HGNC Official Full Name cyclin dependent kinase 2 interacting proteinprovided by HGNC Primary source HGNC:HGNC:23789 See related Ensembl:ENSG00000100865 MIM:613362; AllianceGenome:HGNC:23789 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 reported to be a component of the DNA replication complex as well as a genome-maintenance protein. It may interact with proteins important for replication initiation and has been shown to bind chromatin at the G1 phase of the cell cycle and dissociate from chromatin with replication initiation. It may also serve to regulate checkpoint signaling as part of the DNA damage response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] Expression Ubiquitous expression in testis (RPKM 6.8), brain (RPKM 6.4) and 25 other tissues See more Orthologs mouse all
CIP2A, Official Symbol CIP2Aprovided by HGNC Official Full Name cellular inhibitor of PP2Aprovided by HGNC Primary source HGNC:HGNC:29302 See related Ensembl:ENSG00000163507 MIM:610643; AllianceGenome:HGNC:29302 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 p90; NOCIVA; KIAA1524 Summary Enables protein homodimerization activity. Predicted to act upstream of or within positive regulation of neural precursor cell proliferation and spermatogenesis. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 2.5), lymph node (RPKM 2.3) and 22 other tissues See more Orthologs mouse all
CIPC, Official Symbol CIPCprovided by HGNC Official Full Name CLOCK interacting pacemakerprovided by HGNC Primary source HGNC:HGNC:20365 See related Ensembl:ENSG00000198894 MIM:616995; AllianceGenome:HGNC:20365 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 KIAA1737 Summary Predicted to be involved in negative regulation of circadian rhythm and negative regulation of transcription, DNA-templated. Located in cytosol; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 21.3), heart (RPKM 15.0) and 25 other tissues See more Orthologs mouse all
CIR1, Official Symbol CIR1provided by HGNC Official Full Name corepressor interacting with RBPJ, CIR1provided by HGNC Primary source HGNC:HGNC:24217 See related Ensembl:ENSG00000138433 MIM:605228; AllianceGenome:HGNC:24217 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 CIR Summary Enables histone deacetylase binding activity; protein kinase binding activity; and transcription corepressor activity. Acts upstream of or within negative regulation of transcription by RNA polymerase II. Located in nuclear speck. Part of protein-containing complex. Colocalizes with centrosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 20.7), testis (RPKM 18.7) and 25 other tissues See more Orthologs mouse all
CIR1P1, Official Symbol CIR1P1provided by HGNC Official Full Name CIR1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:44011 See related Ensembl:ENSG00000253146 AllianceGenome:HGNC:44011 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CIR1P2, Official Symbol CIR1P2provided by HGNC Official Full Name CIR1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:44012 See related Ensembl:ENSG00000250215 AllianceGenome:HGNC:44012 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CIR1P3, Official Symbol CIR1P3provided by HGNC Official Full Name CIR1 pseudogene 3provided by HGNC Primary source HGNC:HGNC:44013 See related Ensembl:ENSG00000216708 AllianceGenome:HGNC:44013 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CIRBP, Official Symbol CIRBPprovided by HGNC Official Full Name cold inducible RNA binding proteinprovided by HGNC Primary source HGNC:HGNC:1982 See related Ensembl:ENSG00000099622 MIM:602649; AllianceGenome:HGNC:1982 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 CIRP Summary Enables mRNA 3'-UTR binding activity and small ribosomal subunit rRNA binding activity. Involved in mRNA stabilization; positive regulation of translation; and response to UV. Located in cytoplasm and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 151.3), endometrium (RPKM 107.4) and 25 other tissues See more Orthologs mouse all
CIRBP-AS1, Official Symbol CIRBP-AS1provided by HGNC Official Full Name CIRBP antisense RNA 1provided by HGNC Primary source HGNC:HGNC:28588 See related Ensembl:ENSG00000267493 AllianceGenome:HGNC:28588 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 C19orf23 Expression Ubiquitous expression in brain (RPKM 1.5), skin (RPKM 1.4) and 25 other tissues See more
CISD1, Official Symbol CISD1provided by HGNC Official Full Name CDGSH iron sulfur domain 1provided by HGNC Primary source HGNC:HGNC:30880 See related Ensembl:ENSG00000122873 MIM:611932; AllianceGenome:HGNC:30880 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 ZCD1; MDS029; C10orf70; mitoNEET Summary This gene encodes a protein with a CDGSH iron-sulfur domain and has been shown to bind a redox-active [2Fe-2S] cluster. The encoded protein has been localized to the outer membrane of mitochondria and is thought to play a role in regulation of oxidation. Genes encoding similar proteins are located on chromosomes 4 and 17, and a pseudogene of this gene is located on chromosome 2. [provided by RefSeq, Feb 2012] Expression Ubiquitous expression in heart (RPKM 13.4), small intestine (RPKM 9.9) and 23 other tissues See more Orthologs mouse all
CISD1P1, Official Symbol CISD1P1provided by HGNC Official Full Name CDGSH iron sulfur domain 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:29611 See related AllianceGenome:HGNC:29611 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 ZCD1B; CISD1B
CISD2, Official Symbol CISD2provided by HGNC Official Full Name CDGSH iron sulfur domain 2provided by HGNC Primary source HGNC:HGNC:24212 See related Ensembl:ENSG00000145354 MIM:611507; AllianceGenome:HGNC:24212 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 ERIS; WFS2; ZCD2; NAF-1; Miner1 Summary The protein encoded by this gene is a zinc finger protein that localizes to the endoplasmic reticulum. The encoded protein binds an iron/sulfur cluster and may be involved in calcium homeostasis. Defects in this gene are a cause of Wolfram syndrome 2. [provided by RefSeq, Mar 2011] Expression Ubiquitous expression in thyroid (RPKM 8.6), kidney (RPKM 5.5) and 25 other tissues See more Orthologs mouse all
CISD3, Official Symbol CISD3provided by HGNC Official Full Name CDGSH iron sulfur domain 3provided by HGNC Primary source HGNC:HGNC:27578 See related Ensembl:ENSG00000277972 MIM:611933; AllianceGenome:HGNC:27578 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 MiNT; Miner2 Summary CISD3 is a member of the CDGSH domain-containing family, which may play a role in regulating electron transport and oxidative phosphorylation (Wiley et al., 2007 [PubMed 17376863]).[supplied by OMIM, Apr 2008] Expression Ubiquitous expression in kidney (RPKM 15.7), small intestine (RPKM 14.3) and 25 other tissues See more Orthologs mouse all