psui3905/ncbi_genes_summary huggingface dataset:
CHEK2, Official Symbol CHEK2provided by HGNC Official Full Name checkpoint kinase 2provided by HGNC Primary source HGNC:HGNC:16627 See related Ensembl:ENSG00000183765 MIM:604373; AllianceGenome:HGNC:16627 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 CDS1; CHK2; LFS2; RAD53; hCds1; HuCds1; PP1425 Summary In response to DNA damage and replication blocks, cell cycle progression is halted through the control of critical cell cycle regulators. The protein encoded by this gene is a cell cycle checkpoint regulator and putative tumor suppressor. It contains a forkhead-associated protein interaction domain essential for activation in response to DNA damage and is rapidly phosphorylated in response to replication blocks and DNA damage. When activated, the encoded protein is known to inhibit CDC25C phosphatase, preventing entry into mitosis, and has been shown to stabilize the tumor suppressor protein p53, leading to cell cycle arrest in G1. In addition, this protein interacts with and phosphorylates BRCA1, allowing BRCA1 to restore survival after DNA damage. Mutations in this gene have been linked with Li-Fraumeni syndrome, a highly penetrant familial cancer phenotype usually associated with inherited mutations in TP53. Also, mutations in this gene are thought to confer a predisposition to sarcomas, breast cancer, and brain tumors. This nuclear protein is a member of the CDS1 subfamily of serine/threonine protein kinases. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] Expression Ubiquitous expression in bone marrow (RPKM 3.3), lymph node (RPKM 3.1) and 24 other tissues See more Orthologs mouse all
CHEK2P3, Official Symbol CHEK2P3provided by HGNC Official Full Name CHEK2 pseudogene 3provided by HGNC Primary source HGNC:HGNC:43579 See related AllianceGenome:HGNC:43579 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CHEK2P4, Official Symbol CHEK2P4provided by HGNC Official Full Name CHEK2 pseudogene 4provided by HGNC Primary source HGNC:HGNC:43580 See related Ensembl:ENSG00000235969 AllianceGenome:HGNC:43580 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CHEK2P5, Official Symbol CHEK2P5provided by HGNC Official Full Name CHEK2 pseudogene 5provided by HGNC Primary source HGNC:HGNC:43581 See related Ensembl:ENSG00000234541 AllianceGenome:HGNC:43581 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CHERP, Official Symbol CHERPprovided by HGNC Official Full Name calcium homeostasis endoplasmic reticulum proteinprovided by HGNC Primary source HGNC:HGNC:16930 See related Ensembl:ENSG00000085872 MIM:618539; AllianceGenome:HGNC:16930 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 SRA1; DAN16; SCAF6 Summary Enables transmembrane transporter binding activity. Involved in positive regulation of calcineurin-NFAT signaling cascade and release of sequestered calcium ion into cytosol. Acts upstream of or within cellular calcium ion homeostasis and negative regulation of cell population proliferation. Located in perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 13.3), spleen (RPKM 10.7) and 25 other tissues See more Orthologs mouse all
CHFR, Official Symbol CHFRprovided by HGNC Official Full Name checkpoint with forkhead and ring finger domainsprovided by HGNC Primary source HGNC:HGNC:20455 See related Ensembl:ENSG00000072609 MIM:605209; AllianceGenome:HGNC:20455 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 RNF116; RNF196 Summary This gene encodes an E3 ubiquitin-protein ligase required for the maintenance of the antephase checkpoint that regulates cell cycle entry into mitosis and, therefore, may play a key role in cell cycle progression and tumorigenesis. The encoded protein has an N-terminal forkhead-associated domain, a central RING-finger domain, and a cysteine-rich C-terminal region. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Mar 2014] Expression Ubiquitous expression in testis (RPKM 9.9), spleen (RPKM 8.8) and 25 other tissues See more Orthologs mouse all
CHGA, Official Symbol CHGAprovided by HGNC Official Full Name chromogranin Aprovided by HGNC Primary source HGNC:HGNC:1929 See related Ensembl:ENSG00000100604 MIM:118910; AllianceGenome:HGNC:1929 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 CGA; PHE5; PHES Summary The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. It is found in secretory vesicles of neurons and endocrine cells. This gene product is a precursor to three biologically active peptides; vasostatin, pancreastatin, and parastatin. These peptides act as autocrine or paracrine negative modulators of the neuroendocrine system. Two other peptides, catestatin and chromofungin, have antimicrobial activity and antifungal activity, respectively. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014] Expression Biased expression in adrenal (RPKM 574.1), stomach (RPKM 148.9) and 5 other tissues See more Orthologs mouse all
CHGB, Official Symbol CHGBprovided by HGNC Official Full Name chromogranin Bprovided by HGNC Primary source HGNC:HGNC:1930 See related Ensembl:ENSG00000089199 MIM:118920; AllianceGenome:HGNC:1930 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 SCG1 Summary This gene encodes a tyrosine-sulfated secretory protein abundant in peptidergic endocrine cells and neurons. This protein may serve as a precursor for regulatory peptides. [provided by RefSeq, Jan 2009] Expression Biased expression in adrenal (RPKM 1898.3) and stomach (RPKM 91.0) See more Orthologs mouse all
CHI3L1, Official Symbol CHI3L1provided by HGNC Official Full Name chitinase 3 like 1provided by HGNC Primary source HGNC:HGNC:1932 See related Ensembl:ENSG00000133048 MIM:601525; AllianceGenome:HGNC:1932 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 GP39; ASRT7; GP-39; YK-40; YKL40; CGP-39; YKL-40; YYL-40; HC-gp39; HCGP-3P; hCGP-39 Summary Chitinases catalyze the hydrolysis of chitin, which is an abundant glycopolymer found in insect exoskeletons and fungal cell walls. The glycoside hydrolase 18 family of chitinases includes eight human family members. This gene encodes a glycoprotein member of the glycosyl hydrolase 18 family. The protein lacks chitinase activity and is secreted by activated macrophages, chondrocytes, neutrophils and synovial cells. The protein is thought to play a role in the process of inflammation and tissue remodeling. [provided by RefSeq, Sep 2009] Expression Biased expression in brain (RPKM 100.8), urinary bladder (RPKM 89.5) and 8 other tissues See more Orthologs mouse all
CHI3L2, Official Symbol CHI3L2provided by HGNC Official Full Name chitinase 3 like 2provided by HGNC Primary source HGNC:HGNC:1933 See related Ensembl:ENSG00000064886 MIM:601526; AllianceGenome:HGNC:1933 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 CHIL2; YKL39; YKL-39 Summary The protein encoded by this gene is similar to bacterial chitinases but lacks chitinase activity. The encoded protein is secreted and is involved in cartilage biogenesis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] Expression Biased expression in appendix (RPKM 55.9), salivary gland (RPKM 27.1) and 11 other tissues See more Orthologs all
CHIA, Official Symbol CHIAprovided by HGNC Official Full Name chitinase acidicprovided by HGNC Primary source HGNC:HGNC:17432 See related Ensembl:ENSG00000134216 MIM:606080; AllianceGenome:HGNC:17432 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 CHIT2; AMCASE; TSA1902 Summary The protein encoded by this gene degrades chitin, which is found in the cell wall of most fungi as well as in arthropods and some nematodes. The encoded protein can also stimulate interleukin 13 expression, and variations in this gene can lead to asthma susceptibility. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] Expression Biased expression in stomach (RPKM 2.7), lung (RPKM 1.9) and 2 other tissues See more Orthologs all
CHIAP1, Official Symbol CHIAP1provided by HGNC Official Full Name chitinase, acidic pseudogene 1provided by HGNC Primary source HGNC:HGNC:44462 See related Ensembl:ENSG00000236040 AllianceGenome:HGNC:44462 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CHIC1, Official Symbol CHIC1provided by HGNC Official Full Name cysteine rich hydrophobic domain 1provided by HGNC Primary source HGNC:HGNC:1934 See related Ensembl:ENSG00000204116 MIM:300922; AllianceGenome:HGNC:1934 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 BRX Summary This gene encodes a cysteine-rich hydrophobic (CHIC) domain-containing protein, and is one of the few protein-coding genes found near the X-inactivation center. Studies in mouse indicate that the mouse ortholog of this gene is subject to X-inactivation in mouse. Experiments with other CHIC domain-containing family members show that the cysteine residues are palmitoylated post-translationally, resulting in membrane association. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2017] Expression Ubiquitous expression in brain (RPKM 2.4), adrenal (RPKM 1.9) and 23 other tissues See more Orthologs mouse all
CHIC2, Official Symbol CHIC2provided by HGNC Official Full Name cysteine rich hydrophobic domain 2provided by HGNC Primary source HGNC:HGNC:1935 See related Ensembl:ENSG00000109220 MIM:604332; AllianceGenome:HGNC:1935 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 BTL Summary This gene encodes a member of the CHIC family of proteins. The encoded protein contains a cysteine-rich hydrophobic (CHIC) motif, and is localized to vesicular structures and the plasma membrane. This gene is associated with some cases of acute myeloid leukemia. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 2.4), gall bladder (RPKM 1.4) and 25 other tissues See more Orthologs mouse all
CHID1, Official Symbol CHID1provided by HGNC Official Full Name chitinase domain containing 1provided by HGNC Primary source HGNC:HGNC:28474 See related Ensembl:ENSG00000177830 MIM:615692; AllianceGenome:HGNC:28474 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 GL008; SICLP; SI-CLP Summary Enables oligosaccharide binding activity. Involved in negative regulation of cytokine production involved in inflammatory response. Located in several cellular components, including late endosome; lysosome; and trans-Golgi network. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 12.9), spleen (RPKM 11.8) and 25 other tissues See more Orthologs mouse all
CHIT1, Official Symbol CHIT1provided by HGNC Official Full Name chitinase 1provided by HGNC Primary source HGNC:HGNC:1936 See related Ensembl:ENSG00000133063 MIM:600031; AllianceGenome:HGNC:1936 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 CHI3; CHIT; CHITD Summary Chitotriosidase is secreted by activated human macrophages and is markedly elevated in plasma of Gaucher disease patients. The expression of chitotriosidase occurs only at a late stage of differentiation of monocytes to activated macrophages in culture. Human macrophages can synthesize a functional chitotriosidase, a highly conserved enzyme with a strongly regulated expression. This enzyme may play a role in the degradation of chitin-containing pathogens. Several alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2012] Expression Biased expression in bone marrow (RPKM 24.2), lung (RPKM 14.0) and 1 other tissue See more Orthologs mouse all
CHKA, Official Symbol CHKAprovided by HGNC Official Full Name choline kinase alphaprovided by HGNC Primary source HGNC:HGNC:1937 See related Ensembl:ENSG00000110721 MIM:118491; AllianceGenome:HGNC:1937 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 CK; EK; CHK; CKI; NEDMIMS Summary The major pathway for the biosynthesis of phosphatidylcholine occurs via the CDP-choline pathway. The protein encoded by this gene is the initial enzyme in the sequence and may play a regulatory role. The encoded protein also catalyzes the phosphorylation of ethanolamine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 24.3), thyroid (RPKM 9.0) and 25 other tissues See more Orthologs mouse all
CHKB, Official Symbol CHKBprovided by HGNC Official Full Name choline kinase betaprovided by HGNC Primary source HGNC:HGNC:1938 See related Ensembl:ENSG00000100288 MIM:612395; AllianceGenome:HGNC:1938 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 CK; EK; CKB; EKB; CHKL; CHETK; CKEKB; MDCMC Summary Choline kinase (CK) and ethanolamine kinase (EK) catalyze the phosphorylation of choline/ethanolamine to phosphocholine/phosphoethanolamine. This is the first enzyme in the biosynthesis of phosphatidylcholine/phosphatidylethanolamine in all animal cells. The highly purified CKs from mammalian sources and their recombinant gene products have been shown to have EK activity also, indicating that both activities reside on the same protein. The choline kinase-like protein encoded by CHKL belongs to the choline/ethanolamine kinase family; however, its exact function is not known. Read-through transcripts are expressed from this locus that include exons from the downstream CPT1B locus. [provided by RefSeq, Jun 2009] Expression Ubiquitous expression in spleen (RPKM 35.8), lymph node (RPKM 28.9) and 25 other tissues See more Orthologs mouse all
CHKB-CPT1B, Official Symbol CHKB-CPT1Bprovided by HGNC Official Full Name CHKB-CPT1B readthrough (NMD candidate)provided by HGNC Primary source HGNC:HGNC:41998 See related Ensembl:ENSG00000254413 AllianceGenome:HGNC:41998 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 CPT1B; CPT1-M; CPTI-M; CHKL-CPT1B Summary The genes CHKB and CPT1B are adjacent on chromosome 22 and read-through transcripts are expressed that include exons from both loci. The read-through transcripts are candidates for nonsense-mediated mRNA decay (NMD) and are unlikely to express proteins. [provided by RefSeq, Jun 2009] Expression Broad expression in heart (RPKM 47.4), testis (RPKM 36.6) and 24 other tissues See more
CHKB-DT, Official Symbol CHKB-DTprovided by HGNC Official Full Name CHKB divergent transcriptprovided by HGNC Primary source HGNC:HGNC:40146 See related Ensembl:ENSG00000205559 AllianceGenome:HGNC:40146 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 HRAT; CHKB-AS1 Expression Broad expression in testis (RPKM 1.6), prostate (RPKM 1.0) and 24 other tissues See more
CHL1, Official Symbol CHL1provided by HGNC Official Full Name cell adhesion molecule L1 likeprovided by HGNC Primary source HGNC:HGNC:1939 See related Ensembl:ENSG00000134121 MIM:607416; AllianceGenome:HGNC:1939 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 CALL; L1CAM2 Summary The protein encoded by this gene is a member of the L1 gene family of neural cell adhesion molecules. It is a neural recognition molecule that may be involved in signal transduction pathways. The deletion of one copy of this gene may be responsible for mental defects in patients with 3p- syndrome. This protein may also play a role in the growth of certain cancers. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Nov 2011] Expression Biased expression in brain (RPKM 21.7), ovary (RPKM 3.5) and 12 other tissues See more Orthologs mouse all
CHL1-AS1, Official Symbol CHL1-AS1provided by HGNC Official Full Name CHL1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40148 See related Ensembl:ENSG00000234661 AllianceGenome:HGNC:40148 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Broad expression in brain (RPKM 8.7), kidney (RPKM 1.9) and 15 other tissues See more
CHL1-AS2, Official Symbol CHL1-AS2provided by HGNC Official Full Name CHL1 antisense RNA 2provided by HGNC Primary source HGNC:HGNC:40147 See related Ensembl:ENSG00000224318 AllianceGenome:HGNC:40147 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 brain (RPKM 2.4), heart (RPKM 1.5) and 5 other tissues See more
CHM, Official Symbol CHMprovided by HGNC Official Full Name CHM Rab escort proteinprovided by HGNC Primary source HGNC:HGNC:1940 See related Ensembl:ENSG00000188419 MIM:300390; AllianceGenome:HGNC:1940 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 TCD; GGTA; REP-1; DXS540; HSD-32 Summary This gene encodes component A of the RAB geranylgeranyl transferase holoenzyme. In the dimeric holoenzyme, this subunit binds unprenylated Rab GTPases and then presents them to the catalytic Rab GGTase subunit for the geranylgeranyl transfer reaction. Rab GTPases need to be geranylgeranyled on either one or two cysteine residues in their C-terminus to localize to the correct intracellular membrane. Mutations in this gene are a cause of choroideremia; also known as tapetochoroidal dystrophy (TCD). This X-linked disease is characterized by progressive dystrophy of the choroid, retinal pigment epithelium and retina. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016] Expression Ubiquitous expression in brain (RPKM 4.7), thyroid (RPKM 4.5) and 25 other tissues See more Orthologs mouse all
CHML, Official Symbol CHMLprovided by HGNC Official Full Name CHM like Rab escort proteinprovided by HGNC Primary source HGNC:HGNC:1941 See related Ensembl:ENSG00000203668 MIM:118825; AllianceGenome:HGNC:1941 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 REP2 Summary The product of the CHML gene supports geranylgeranylation of most Rab proteins and may substitute for REP-1 in tissues other than retina. CHML is localized close to the gene for Usher syndrome type II. [provided by RefSeq, Jul 2008] Orthologs mouse all
CHMP1A, Official Symbol CHMP1Aprovided by HGNC Official Full Name charged multivesicular body protein 1Aprovided by HGNC Primary source HGNC:HGNC:8740 See related Ensembl:ENSG00000131165 MIM:164010; AllianceGenome:HGNC:8740 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 PCH8; CHMP1; PRSM1; PCOLN3; VPS46A; VPS46-1 Summary This gene encodes a member of the CHMP/Chmp family of proteins which are involved in multivesicular body sorting of proteins to the interiors of lysosomes. The initial prediction of the protein sequence encoded by this gene suggested that the encoded protein was a metallopeptidase. The nomenclature has been updated recently to reflect the correct biological function of this encoded protein. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] Expression Ubiquitous expression in small intestine (RPKM 17.5), colon (RPKM 16.9) and 25 other tissues See more Orthologs mouse all
CHMP1AP1, Official Symbol CHMP1AP1provided by HGNC Official Full Name charged multivesicular body protein 1A pseudogene 1provided by HGNC Primary source HGNC:HGNC:39514 See related Ensembl:ENSG00000226662 AllianceGenome:HGNC:39514 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CHMP1B, Official Symbol CHMP1Bprovided by HGNC Official Full Name charged multivesicular body protein 1Bprovided by HGNC Primary source HGNC:HGNC:24287 See related Ensembl:ENSG00000255112 MIM:606486; AllianceGenome:HGNC:24287 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 Vps46B; C10orf2; C18orf2; CHMP1.5; Vps46-2; C18-ORF2; hVps46-2 Summary CHMP1B belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008] Orthologs mouse all
CHMP1B2P, Official Symbol CHMP1B2Pprovided by HGNC Official Full Name charged multivesicular body protein 1B2, pseudogeneprovided by HGNC Primary source HGNC:HGNC:49380 See related Ensembl:ENSG00000278530 AllianceGenome:HGNC:49380 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in adrenal (RPKM 1.1), prostate (RPKM 0.7) and 13 other tissues See more
CHMP2A, Official Symbol CHMP2Aprovided by HGNC Official Full Name charged multivesicular body protein 2Aprovided by HGNC Primary source HGNC:HGNC:30216 See related Ensembl:ENSG00000130724 MIM:610893; AllianceGenome:HGNC:30216 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 BC2; BC-2; VPS2; CHMP2; VPS2A Summary CHMP2A belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in colon (RPKM 34.2), kidney (RPKM 32.8) and 25 other tissues See more Orthologs mouse all
CHMP2B, Official Symbol CHMP2Bprovided by HGNC Official Full Name charged multivesicular body protein 2Bprovided by HGNC Primary source HGNC:HGNC:24537 See related Ensembl:ENSG00000083937 MIM:609512; AllianceGenome:HGNC:24537 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 DMT1; ALS17; VPS2B; VPS2-2; CHMP2.5; FTDALS7 Summary This gene encodes a component of the heteromeric ESCRT-III complex (Endosomal Sorting Complex Required for Transport III) that functions in the recycling or degradation of cell surface receptors. ESCRT-III functions in the concentration and invagination of ubiquitinated endosomal cargos into intralumenal vesicles. The protein encoded by this gene is found as a monomer in the cytosol or as an oligomer in ESCRT-III complexes on endosomal membranes. It is expressed in neurons of all major regions of the brain. Mutations in this gene result in one form of familial frontotemporal lobar degeneration. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 27.4), colon (RPKM 24.7) and 25 other tissues See more Orthologs mouse all
CHMP3, Official Symbol CHMP3provided by HGNC Official Full Name charged multivesicular body protein 3provided by HGNC Primary source HGNC:HGNC:29865 See related Ensembl:ENSG00000115561 MIM:610052; AllianceGenome:HGNC:29865 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 NEDF; VPS24; CGI-149 Summary This gene encodes a protein that sorts transmembrane proteins into lysosomes/vacuoles via the multivesicular body (MVB) pathway. This protein, along with other soluble coiled-coil containing proteins, forms part of the ESCRT-III protein complex that binds to the endosomal membrane and recruits additional cofactors for protein sorting into the MVB. This protein may also co-immunoprecipitate with a member of the IFG-binding protein superfamily. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ring finger protein 103 (RNF103) gene. [provided by RefSeq, Nov 2010] Expression Ubiquitous expression in esophagus (RPKM 41.6), thyroid (RPKM 40.0) and 25 other tissues See more Orthologs mouse all
CHMP4A, Official Symbol CHMP4Aprovided by HGNC Official Full Name charged multivesicular body protein 4Aprovided by HGNC Primary source HGNC:HGNC:20274 See related Ensembl:ENSG00000254505 MIM:610051; AllianceGenome:HGNC:20274 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 SNF7; CHMP4; SHAX2; CHMP4B; SNF7-1; VPS32A; HSPC134; VPS32-1; hSnf7-1; C14orf123 Summary CHMP4A belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in fat (RPKM 27.3), lymph node (RPKM 25.9) and 25 other tissues See more Orthologs all
CHMP4B, Official Symbol CHMP4Bprovided by HGNC Official Full Name charged multivesicular body protein 4Bprovided by HGNC Primary source HGNC:HGNC:16171 See related Ensembl:ENSG00000101421 MIM:610897; AllianceGenome:HGNC:16171 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 SNF7; CTPP3; Shax1; CHMP4A; SNF7-2; VPS32B; CTRCT31; Vps32-2; C20orf178; dJ553F4.4 Summary This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein (CHMP) protein family. The protein is part of the endosomal sorting complex required for transport (ESCRT) complex III (ESCRT-III), which functions in the sorting of endocytosed cell-surface receptors into multivesicular endosomes. The ESCRT machinery also functions in the final abscisson stage of cytokinesis and in the budding of enveloped viruses such as HIV-1. The three proteins of the CHMP4 subfamily interact with programmed cell death 6 interacting protein (PDCD6IP, also known as ALIX), which also functions in the ESCRT pathway. The CHMP4 proteins assemble into membrane-attached 5-nm filaments that form circular scaffolds and promote or stabilize outward budding. These polymers are proposed to help generate the luminal vesicles of multivesicular bodies. Mutations in this gene result in autosomal dominant posterior polar cataracts.[provided by RefSeq, Oct 2009] Expression Ubiquitous expression in colon (RPKM 76.6), bone marrow (RPKM 71.5) and 25 other tissues See more Orthologs mouse all
CHMP4C, Official Symbol CHMP4Cprovided by HGNC Official Full Name charged multivesicular body protein 4Cprovided by HGNC Primary source HGNC:HGNC:30599 See related Ensembl:ENSG00000164695 MIM:610899; AllianceGenome:HGNC:30599 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 Shax3; SNF7-3; VPS32C Summary CHMP4C belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008] Expression Broad expression in duodenum (RPKM 19.0), small intestine (RPKM 14.8) and 19 other tissues See more Orthologs mouse all
CHMP5, Official Symbol CHMP5provided by HGNC Official Full Name charged multivesicular body protein 5provided by HGNC Primary source HGNC:HGNC:26942 See related Ensembl:ENSG00000086065 MIM:610900; AllianceGenome:HGNC:26942 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 Vps60; CGI-34; PNAS-2; C9orf83; HSPC177; SNF7DC2 Summary CHMP5 belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in colon (RPKM 33.4), thyroid (RPKM 32.0) and 25 other tissues See more Orthologs mouse all
CHMP5P1, Official Symbol CHMP5P1provided by HGNC Official Full Name CHMP5 pseudogene 1provided by HGNC Primary source HGNC:HGNC:54950 See related AllianceGenome:HGNC:54950 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CHMP6, Official Symbol CHMP6provided by HGNC Official Full Name charged multivesicular body protein 6provided by HGNC Primary source HGNC:HGNC:25675 See related Ensembl:ENSG00000176108 MIM:610901; AllianceGenome:HGNC:25675 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 VPS20 Summary This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein family. Proteins in this family are part of the ESCRT-III (endosomal sorting complex required for transport III) which degrades surface receptors, and in biosynthesis of endosomes. [provided by RefSeq, Mar 2012] Expression Ubiquitous expression in kidney (RPKM 3.0), colon (RPKM 3.0) and 25 other tissues See more Orthologs mouse all
CHMP7, Official Symbol CHMP7provided by HGNC Official Full Name charged multivesicular body protein 7provided by HGNC Primary source HGNC:HGNC:28439 See related Ensembl:ENSG00000147457 MIM:611130; AllianceGenome:HGNC:28439 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 Involved in several processes, including late endosome to vacuole transport; midbody abscission; and mitotic nuclear division. Located in cytosol; nuclear envelope; and nucleoplasm. Part of ESCRT III complex. Colocalizes with chromatin. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 21.0), appendix (RPKM 14.0) and 25 other tissues See more Orthologs mouse all
CHN1, Official Symbol CHN1provided by HGNC Official Full Name chimerin 1provided by HGNC Primary source HGNC:HGNC:1943 See related Ensembl:ENSG00000128656 MIM:118423; AllianceGenome:HGNC:1943 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 NC; CHN; DURS2; ARHGAP2; RHOGAP2 Summary This gene encodes GTPase-activating protein for ras-related p21-rac and a phorbol ester receptor. It is predominantly expressed in neurons, and plays an important role in neuronal signal-transduction mechanisms. Mutations in this gene are associated with Duane's retraction syndrome 2 (DURS2). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011] Expression Biased expression in brain (RPKM 113.6), placenta (RPKM 8.8) and 1 other tissue See more Orthologs mouse all
CHN2, Official Symbol CHN2provided by HGNC Official Full Name chimerin 2provided by HGNC Primary source HGNC:HGNC:1944 See related MIM:602857; AllianceGenome:HGNC:1944 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 BCH; CHN2-3; ARHGAP3; RHOGAP3 Summary This gene encodes a guanosine triphosphate (GTP)-metabolizing protein that contains a phorbol-ester/diacylglycerol (DAG)-type zinc finger, a Rho-GAP domain, and an SH2 domain. The encoded protein translocates from the cytosol to the Golgi apparatus membrane upon binding by diacylglycerol (DAG). Activity of this protein is important in cell proliferation and migration, and expression changes in this gene have been detected in cancers. A mutation in this gene has also been associated with schizophrenia in men. Alternative transcript splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, May 2014] Expression Broad expression in duodenum (RPKM 21.4), small intestine (RPKM 16.7) and 20 other tissues See more Orthologs mouse all
CHN2-AS1, Official Symbol CHN2-AS1provided by HGNC Official Full Name CHN2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40149 See related AllianceGenome:HGNC:40149 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
CHODL, Official Symbol CHODLprovided by HGNC Official Full Name chondrolectinprovided by HGNC Primary source HGNC:HGNC:17807 See related Ensembl:ENSG00000154645 MIM:607247; AllianceGenome:HGNC:17807 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 MT75; PRED12; C21orf68 Summary This gene encodes a type I membrane protein with a carbohydrate recognition domain characteristic of C-type lectins in its extracellular portion. In other proteins, this domain is involved in endocytosis of glycoproteins and exogenous sugar-bearing pathogens. This protein localizes predominantly to the perinuclear region. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Feb 2011] Expression Biased expression in testis (RPKM 14.8), spleen (RPKM 3.6) and 5 other tissues See more Orthologs mouse all
CHORDC1, Official Symbol CHORDC1provided by HGNC Official Full Name cysteine and histidine rich domain containing 1provided by HGNC Primary source HGNC:HGNC:14525 See related Ensembl:ENSG00000110172 MIM:604353; AllianceGenome:HGNC:14525 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 CHP1 Summary Enables Hsp90 protein binding activity. Predicted to be involved in centrosome duplication; chaperone-mediated protein folding; and regulation of cellular response to heat. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 9.0), appendix (RPKM 8.2) and 25 other tissues See more Orthologs mouse all
CHORDC2P, Official Symbol CHORDC2Pprovided by HGNC Official Full Name cysteine and histidine rich domain containing 2, pseudogeneprovided by HGNC Primary source HGNC:HGNC:20050 See related AllianceGenome:HGNC:20050 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CHP1, Official Symbol CHP1provided by HGNC Official Full Name calcineurin like EF-hand protein 1provided by HGNC Primary source HGNC:HGNC:17433 See related Ensembl:ENSG00000187446 MIM:606988; AllianceGenome:HGNC:17433 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 CHP; p22; p24; SPAX9; Sid470p; SLC9A1BP Summary This gene encodes a phosphoprotein that binds to the Na+/H+ exchanger NHE1. This protein serves as an essential cofactor which supports the physiological activity of NHE family members and may play a role in the mitogenic regulation of NHE1. The protein shares similarity with calcineurin B and calmodulin and it is also known to be an endogenous inhibitor of calcineurin activity. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in colon (RPKM 59.2), liver (RPKM 56.3) and 25 other tissues See more Orthologs mouse all
CHP1P3, Official Symbol CHP1P3provided by HGNC Official Full Name CHP1 pseudogene 3provided by HGNC Primary source HGNC:HGNC:54897 See related Ensembl:ENSG00000226153 AllianceGenome:HGNC:54897 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CHP2, Official Symbol CHP2provided by HGNC Official Full Name calcineurin like EF-hand protein 2provided by HGNC Primary source HGNC:HGNC:24927 See related Ensembl:ENSG00000166869 AllianceGenome:HGNC:24927 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene product is a small calcium-binding protein that regulates cell pH by controlling plasma membrane-type Na+/H+ exchange activity. This protein shares sequence similarity with calcineurin B and can bind to and stimulate the protein phosphatase activity of calcineurin A (CnA) and functions in the calcineurin/NFAT (nuclear factor of activated T cells) signaling pathway. Another member of the CHP subfamily, Calcineurin B homologous protein 1, is located on Chromosome 15 and is an inhibitor of calcineurin activity and has a genetic phenotype associated with Parkinson's Disease (OMIM:606988). This gene was initially identified as a tumor-associated antigen and was previously referred to as Hepatocellular carcinoma-associated antigen 520. [provided by RefSeq, Jul 2013] Expression Biased expression in duodenum (RPKM 110.6), small intestine (RPKM 92.6) and 2 other tissues See more Orthologs mouse all
CHPF, Official Symbol CHPFprovided by HGNC Official Full Name chondroitin polymerizing factorprovided by HGNC Primary source HGNC:HGNC:24291 See related Ensembl:ENSG00000123989 MIM:610405; AllianceGenome:HGNC:24291 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CSS2; CHPF1; CHSY2 Summary Enables N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity and glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity. Involved in chondroitin sulfate biosynthetic process. Predicted to be located in Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 33.7), placenta (RPKM 25.6) and 24 other tissues See more Orthologs mouse all
CHPF2, Official Symbol CHPF2provided by HGNC Official Full Name chondroitin polymerizing factor 2provided by HGNC Primary source HGNC:HGNC:29270 See related Ensembl:ENSG00000033100 MIM:608037; AllianceGenome:HGNC:29270 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 ChSy-3; chPF-2; CSGlcAT; CSGLCA-T Summary Predicted to enable glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity. Predicted to be involved in chondroitin sulfate biosynthetic process. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 11.8), placenta (RPKM 11.6) and 25 other tissues See more Orthologs mouse all
CHPT1, Official Symbol CHPT1provided by HGNC Official Full Name choline phosphotransferase 1provided by HGNC Primary source HGNC:HGNC:17852 See related Ensembl:ENSG00000111666 MIM:616747; AllianceGenome:HGNC:17852 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 CPT; CPT1 Summary Enables diacylglycerol cholinephosphotransferase activity. Involved in phosphatidylcholine biosynthetic process and platelet activating factor biosynthetic process. Predicted to be located in Golgi membrane. Predicted to be active in Golgi apparatus and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 11.8), duodenum (RPKM 11.3) and 25 other tissues See more Orthologs mouse all