psui3905/ncbi_genes_summary huggingface dataset:
CEACAM8, Official Symbol CEACAM8provided by HGNC Official Full Name CEA cell adhesion molecule 8provided by HGNC Primary source HGNC:HGNC:1820 See related Ensembl:ENSG00000124469 MIM:615747; AllianceGenome:HGNC:1820 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 CD67; CGM6; CD66b; NCA-95 Summary Enables protein heterodimerization activity. Involved in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules. Located in cell surface and extracellular space. Biomarker of severe acute respiratory syndrome. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward bone marrow (RPKM 58.6) See more Orthologs all
CEACAMP1, Official Symbol CEACAMP1provided by HGNC Official Full Name CEA cell adhesion molecule pseudogene 1provided by HGNC Primary source HGNC:HGNC:1821 See related Ensembl:ENSG00000233681 AllianceGenome:HGNC:1821 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 CGM8; CEACAM22P
CEACAMP10, Official Symbol CEACAMP10provided by HGNC Official Full Name CEA cell adhesion molecule pseudogene 10provided by HGNC Primary source HGNC:HGNC:1822 See related AllianceGenome:HGNC:1822 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 CGM17; CEACAM31P
CEACAMP11, Official Symbol CEACAMP11provided by HGNC Official Full Name CEA cell adhesion molecule pseudogene 11provided by HGNC Primary source HGNC:HGNC:1823 See related AllianceGenome:HGNC:1823 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 CGM18; CEACAM32P
CEACAMP7, Official Symbol CEACAMP7provided by HGNC Official Full Name CEA cell adhesion molecule pseudogene 7provided by HGNC Primary source HGNC:HGNC:1829 See related Ensembl:ENSG00000227349 AllianceGenome:HGNC:1829 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 CGM14; CEACAM28P
CEACAMP8, Official Symbol CEACAMP8provided by HGNC Official Full Name CEA cell adhesion molecule pseudogene 8provided by HGNC Primary source HGNC:HGNC:1830 See related AllianceGenome:HGNC:1830 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 CGM15; CEACAM29P
CEACAMP9, Official Symbol CEACAMP9provided by HGNC Official Full Name CEA cell adhesion molecule pseudogene 9provided by HGNC Primary source HGNC:HGNC:1831 See related Ensembl:ENSG00000230529 AllianceGenome:HGNC:1831 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 CGM16; CEACAM30P
CEBPA, Official Symbol CEBPAprovided by HGNC Official Full Name CCAAT enhancer binding protein alphaprovided by HGNC Primary source HGNC:HGNC:1833 See related Ensembl:ENSG00000245848 MIM:116897; AllianceGenome:HGNC:1833 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 CEBP; C/EBP-alpha Summary This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain and recognizes the CCAAT motif in the promoters of target genes. The encoded protein functions in homodimers and also heterodimers with CCAAT/enhancer-binding proteins beta and gamma. Activity of this protein can modulate the expression of genes involved in cell cycle regulation as well as in body weight homeostasis. Mutation of this gene is associated with acute myeloid leukemia. The use of alternative in-frame non-AUG (GUG) and AUG start codons results in protein isoforms with different lengths. Differential translation initiation is mediated by an out-of-frame, upstream open reading frame which is located between the GUG and the first AUG start codons. [provided by RefSeq, Dec 2013] Orthologs mouse all
CEBPA-DT, Official Symbol CEBPA-DTprovided by HGNC Official Full Name CEBPA divergent transcriptprovided by HGNC Primary source HGNC:HGNC:25710 See related Ensembl:ENSG00000267296 AllianceGenome:HGNC:25710 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 ADINR; CEBPA-AS1
CEBPB, Official Symbol CEBPBprovided by HGNC Official Full Name CCAAT enhancer binding protein betaprovided by HGNC Primary source HGNC:HGNC:1834 See related Ensembl:ENSG00000172216 MIM:189965; AllianceGenome:HGNC:1834 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 TCF5; IL6DBP; NF-IL6; C/EBP-beta Summary This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain. The encoded protein functions as a homodimer but can also form heterodimers with CCAAT/enhancer-binding proteins alpha, delta, and gamma. Activity of this protein is important in the regulation of genes involved in immune and inflammatory responses, among other processes. The use of alternative in-frame AUG start codons results in multiple protein isoforms, each with distinct biological functions. [provided by RefSeq, Oct 2013] Orthologs mouse all
CEBPB-AS1, Official Symbol CEBPB-AS1provided by HGNC Official Full Name CEBPB antisense RNA 1provided by HGNC Primary source HGNC:HGNC:51226 See related Ensembl:ENSG00000277449 AllianceGenome:HGNC:51226 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Ubiquitous expression in fat (RPKM 8.2), adrenal (RPKM 6.1) and 25 other tissues See more
CEBPD, Official Symbol CEBPDprovided by HGNC Official Full Name CCAAT enhancer binding protein deltaprovided by HGNC Primary source HGNC:HGNC:1835 See related Ensembl:ENSG00000221869 MIM:116898; AllianceGenome:HGNC:1835 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 CELF; CRP3; C/EBP-delta; NF-IL6-beta Summary The protein encoded by this intronless gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related protein CEBP-alpha. The encoded protein is important in the regulation of genes involved in immune and inflammatory responses, and may be involved in the regulation of genes associated with activation and/or differentiation of macrophages. The cytogenetic location of this locus has been reported as both 8p11 and 8q11. [provided by RefSeq, Sep 2010] Orthologs mouse all
CEBPE, Official Symbol CEBPEprovided by HGNC Official Full Name CCAAT enhancer binding protein epsilonprovided by HGNC Primary source HGNC:HGNC:1836 See related Ensembl:ENSG00000092067 MIM:600749; AllianceGenome:HGNC:1836 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 CRP1; SGD1; IMD108; C/EBP-epsilon; c/EBP epsilon Summary The protein encoded by this gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related protein CEBP-delta. The encoded protein may be essential for terminal differentiation and functional maturation of committed granulocyte progenitor cells. Mutations in this gene have been associated with Specific Granule Deficiency, a rare congenital disorder. Multiple variants of this gene have been described, but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008] Expression Biased expression in bone marrow (RPKM 14.1) and small intestine (RPKM 1.0) See more Orthologs mouse all
CEBPG, Official Symbol CEBPGprovided by HGNC Official Full Name CCAAT enhancer binding protein gammaprovided by HGNC Primary source HGNC:HGNC:1837 See related Ensembl:ENSG00000153879 MIM:138972; AllianceGenome:HGNC:1837 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 GPE1BP; IG/EBP-1 Summary The C/EBP family of transcription factors regulates viral and cellular CCAAT/enhancer element-mediated transcription. C/EBP proteins contain the bZIP region, which is characterized by two motifs in the C-terminal half of the protein: a basic region involved in DNA binding and a leucine zipper motif involved in dimerization. The C/EBP family consist of several related proteins, C/EBP alpha, C/EBP beta, C/EBP gamma, and C/EBP delta, that form homodimers and that form heterodimers with each other. CCAAT/enhancer binding protein gamma may cooperate with Fos to bind PRE-I enhancer elements. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Nov 2011] Expression Ubiquitous expression in thyroid (RPKM 20.4), colon (RPKM 19.6) and 25 other tissues See more Orthologs mouse all
CEBPZ, Official Symbol CEBPZprovided by HGNC Official Full Name CCAAT enhancer binding protein zetaprovided by HGNC Primary source HGNC:HGNC:24218 See related Ensembl:ENSG00000115816 MIM:612828; AllianceGenome:HGNC:24218 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 CBF; CBF2; NOC1; HSP-CBF Summary This gene belongs to the CBF/Mak21 family. The encoded protein plays a role in cellular response to environmental stimuli through a transcriptional process that involves heat shock factors, conserved DNA elements (heat shock elements or HSEs) and CCAAT boxes. The protein acts as a DNA-binding transcriptional activator and regulates the heat-shock protein 70 (HSP70) promoter in a CCAAT-dependent manner. The protein is also involved in cell growth and differentiation, particularly, hematopoietic differentiation. [provided by RefSeq, Nov 2020] Annotation information Note: CEBPZ (Gene ID: 10153) and DDIT3 (Gene ID: 1649) share the CEBPZ symbol/alias. CEBPZ is a widely used alternative name for DNA damage inducible transcript 3 (DDIT3), which can be confused with the official symbol for CEBPZ (CCAAT enhancer binding protein zeta, GeneID: 10153). [12 Nov 2020] Expression Ubiquitous expression in testis (RPKM 27.1), adrenal (RPKM 18.8) and 25 other tissues See more Orthologs mouse all
CEBPZOS, Official Symbol CEBPZOSprovided by HGNC Official Full Name CEBPZ opposite strandprovided by HGNC Primary source HGNC:HGNC:49288 See related Ensembl:ENSG00000218739 AllianceGenome:HGNC:49288 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 CEBPZ-AS1 Summary Predicted to be located in mitochondrial membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 10.4), thyroid (RPKM 9.4) and 25 other tissues See more Orthologs mouse all
CECR2, Official Symbol CECR2provided by HGNC Official Full Name CECR2 histone acetyl-lysine readerprovided by HGNC Primary source HGNC:HGNC:1840 See related Ensembl:ENSG00000099954 MIM:607576; AllianceGenome:HGNC:1840 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a bromodomain-containing protein that is involved in chromatin remodeling, and may additionally play a role in DNA damage response. The encoded protein functions as part of an ATP-dependent complex that is involved in neurulation. This gene is a candidate gene for Cat Eye Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] Expression Broad expression in brain (RPKM 2.7), testis (RPKM 2.2) and 20 other tissues See more Orthologs mouse all
CECR3, Official Symbol CECR3provided by HGNC Official Full Name cat eye syndrome chromosome region, candidate 3provided by HGNC Primary source HGNC:HGNC:1841 See related Ensembl:ENSG00000241832 AllianceGenome:HGNC:1841 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
CEL, Official Symbol CELprovided by HGNC Official Full Name carboxyl ester lipaseprovided by HGNC Primary source HGNC:HGNC:1848 See related Ensembl:ENSG00000170835 MIM:114840; AllianceGenome:HGNC:1848 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 BAL; FAP; BSDL; BSSL; CELL; FAPP; LIPA; CEase; MODY8 Summary The protein encoded by this gene is a glycoprotein secreted from the pancreas into the digestive tract and from the lactating mammary gland into human milk. The physiological role of this protein is in cholesterol and lipid-soluble vitamin ester hydrolysis and absorption. This encoded protein promotes large chylomicron production in the intestine. Also its presence in plasma suggests its interactions with cholesterol and oxidized lipoproteins to modulate the progression of atherosclerosis. In pancreatic tumoral cells, this encoded protein is thought to be sequestrated within the Golgi compartment and is probably not secreted. This gene contains a variable number of tandem repeat (VNTR) polymorphism in the coding region that may influence the function of the encoded protein. [provided by RefSeq, Jul 2008] Expression Restricted expression toward pancreas (RPKM 14647.9) See more Orthologs mouse all
CELA1, Official Symbol CELA1provided by HGNC Official Full Name chymotrypsin like elastase 1provided by HGNC Primary source HGNC:HGNC:3308 See related Ensembl:ENSG00000139610 MIM:130120; AllianceGenome:HGNC:3308 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 ELA1 Summary Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, pancreatic elastase 1 is not expressed in the pancreas. To date, elastase 1 expression has only been detected in skin keratinocytes. Clinical literature that describes human elastase 1 activity in the pancreas or fecal material is actually referring to chymotrypsin-like elastase family, member 3B. [provided by RefSeq, May 2009] Expression Low expression observed in reference dataset See more Orthologs mouse all
CELA2A, Official Symbol CELA2Aprovided by HGNC Official Full Name chymotrypsin like elastase 2Aprovided by HGNC Primary source HGNC:HGNC:24609 See related Ensembl:ENSG00000142615 MIM:609443; AllianceGenome:HGNC:24609 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 PE-1; AOMS4; ELA2A Summary Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Like most of the human elastases, elastase 2A is secreted from the pancreas as a zymogen. In other species, elastase 2A has been shown to preferentially cleave proteins after leucine, methionine, and phenylalanine residues. [provided by RefSeq, May 2009] Expression Restricted expression toward pancreas (RPKM 18580.0) See more Orthologs mouse all
CELA2B, Official Symbol CELA2Bprovided by HGNC Official Full Name chymotrypsin like elastase 2Bprovided by HGNC Primary source HGNC:HGNC:29995 See related Ensembl:ENSG00000215704 MIM:609444; AllianceGenome:HGNC:29995 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 ELA2B Summary Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Like most of the human elastases, elastase 2B is secreted from the pancreas as a zymogen. In other species, elastase 2B has been shown to preferentially cleave proteins after leucine, methionine, and phenylalanine residues. [provided by RefSeq, Jul 2008] Expression Restricted expression toward pancreas (RPKM 4511.4) See more Orthologs all
CELA3A, Official Symbol CELA3Aprovided by HGNC Official Full Name chymotrypsin like elastase 3Aprovided by HGNC Primary source HGNC:HGNC:15944 See related Ensembl:ENSG00000142789 MIM:618693; AllianceGenome:HGNC:15944 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 ELA3; ELA3A Summary Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, elastase 3A has little elastolytic activity. Like most of the human elastases, elastase 3A is secreted from the pancreas as a zymogen and, like other serine proteases such as trypsin, chymotrypsin and kallikrein, it has a digestive function in the intestine. Elastase 3A preferentially cleaves proteins after alanine residues. Elastase 3A may also function in the intestinal transport and metabolism of cholesterol. Both elastase 3A and elastase 3B have been referred to as protease E and as elastase 1. [provided by RefSeq, Jul 2008] Expression Restricted expression toward pancreas (RPKM 29060.2) See more Orthologs all
CELA3B, Official Symbol CELA3Bprovided by HGNC Official Full Name chymotrypsin like elastase 3Bprovided by HGNC Primary source HGNC:HGNC:15945 See related Ensembl:ENSG00000219073 MIM:618694; AllianceGenome:HGNC:15945 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 CBPP; ELA3B Summary Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, elastase 3B has little elastolytic activity. Like most of the human elastases, elastase 3B is secreted from the pancreas as a zymogen and, like other serine proteases such as trypsin, chymotrypsin and kallikrein, it has a digestive function in the intestine. Elastase 3B preferentially cleaves proteins after alanine residues. Elastase 3B may also function in the intestinal transport and metabolism of cholesterol. Both elastase 3A and elastase 3B have been referred to as protease E and as elastase 1, and excretion of this protein in fecal material is frequently used as a measure of pancreatic function in clinical assays. [provided by RefSeq, May 2009] Expression Restricted expression toward pancreas (RPKM 10341.0) See more Orthologs all
CELF1, Official Symbol CELF1provided by HGNC Official Full Name CUGBP Elav-like family member 1provided by HGNC Primary source HGNC:HGNC:2549 See related Ensembl:ENSG00000149187 MIM:601074; AllianceGenome:HGNC:2549 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 CUGBP; NAB50; NAPOR; CUG-BP; CUGBP1; hNab50; BRUNOL2; EDEN-BP Summary Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. This gene may play a role in myotonic dystrophy type 1 (DM1) via interactions with the dystrophia myotonica-protein kinase (DMPK) gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lymph node (RPKM 13.4), spleen (RPKM 12.7) and 25 other tissues See more Orthologs mouse all
CELF2, Official Symbol CELF2provided by HGNC Official Full Name CUGBP Elav-like family member 2provided by HGNC Primary source HGNC:HGNC:2550 See related Ensembl:ENSG00000048740 MIM:602538; AllianceGenome:HGNC:2550 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 ETR3; DEE97; ETR-3; NAPOR; CELF-2; CUGBP2; BRUNOL3; CUG-BP2 Summary Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Expression Broad expression in brain (RPKM 19.5), bone marrow (RPKM 16.3) and 21 other tissues See more Orthologs mouse all
CELF2-AS1, Official Symbol CELF2-AS1provided by HGNC Official Full Name CELF2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:23515 See related AllianceGenome:HGNC:23515 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 C10orf31 Summary Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in bone marrow (RPKM 6.2), testis (RPKM 1.7) and 6 other tissues See more
CELF2-AS2, Official Symbol CELF2-AS2provided by HGNC Official Full Name CELF2 antisense RNA 2provided by HGNC Primary source HGNC:HGNC:44703 See related Ensembl:ENSG00000237986 AllianceGenome:HGNC:44703 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Restricted expression toward testis (RPKM 1.4) See more
CELF2-DT, Official Symbol CELF2-DTprovided by HGNC Official Full Name CELF2 divergent transriptprovided by HGNC Primary source HGNC:HGNC:54157 See related AllianceGenome:HGNC:54157 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Restricted expression toward brain (RPKM 1.1) See more
CELF3, Official Symbol CELF3provided by HGNC Official Full Name CUGBP Elav-like family member 3provided by HGNC Primary source HGNC:HGNC:11967 See related Ensembl:ENSG00000159409 MIM:612678; AllianceGenome:HGNC:11967 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 CAGH4; ERDA4; ETR-1; TNRC4; BRUNOL1 Summary Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010] Expression Biased expression in brain (RPKM 11.4), adrenal (RPKM 3.2) and 4 other tissues See more Orthologs mouse all
CELF4, Official Symbol CELF4provided by HGNC Official Full Name CUGBP Elav-like family member 4provided by HGNC Primary source HGNC:HGNC:14015 See related Ensembl:ENSG00000101489 MIM:612679; AllianceGenome:HGNC:14015 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 CELF-4; BRUNOL4 Summary Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 27.2) and adrenal (RPKM 3.4) See more Orthologs mouse all
CELF5, Official Symbol CELF5provided by HGNC Official Full Name CUGBP Elav-like family member 5provided by HGNC Primary source HGNC:HGNC:14058 See related Ensembl:ENSG00000161082 MIM:612680; AllianceGenome:HGNC:14058 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 CELF-5; BRUNOL5; BRUNOL-5 Summary This gene encodes a member of the the CELF/BRUNOL protein family, which contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing and translation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012] Expression Biased expression in brain (RPKM 14.1), ovary (RPKM 2.1) and 1 other tissue See more Orthologs mouse all
CELF6, Official Symbol CELF6provided by HGNC Official Full Name CUGBP Elav-like family member 6provided by HGNC Primary source HGNC:HGNC:14059 See related Ensembl:ENSG00000140488 MIM:612681; AllianceGenome:HGNC:14059 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 BRUNOL6 Summary Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010] Expression Ubiquitous expression in brain (RPKM 5.2), ovary (RPKM 3.9) and 24 other tissues See more Orthologs mouse all
CELP, Official Symbol CELPprovided by HGNC Official Full Name carboxyl ester lipase pseudogeneprovided by HGNC Primary source HGNC:HGNC:1849 See related Ensembl:ENSG00000170827 AllianceGenome:HGNC:1849 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 CELL; cell1; cell2; cell3 Expression Restricted expression toward pancreas (RPKM 10770.7) See more
CELSR1, Official Symbol CELSR1provided by HGNC Official Full Name cadherin EGF LAG seven-pass G-type receptor 1provided by HGNC Primary source HGNC:HGNC:1850 See related Ensembl:ENSG00000075275 MIM:604523; AllianceGenome:HGNC:1850 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 ME2; FMI2; CDHF9; HFMI2; ADGRC1; LMPHM9 Summary The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. This particular member is a developmentally regulated, neural-specific gene which plays an unspecified role in early embryogenesis. [provided by RefSeq, Jul 2008] Expression Broad expression in kidney (RPKM 10.0), skin (RPKM 8.2) and 16 other tissues See more Orthologs mouse all
CELSR2, Official Symbol CELSR2provided by HGNC Official Full Name cadherin EGF LAG seven-pass G-type receptor 2provided by HGNC Primary source HGNC:HGNC:3231 See related Ensembl:ENSG00000143126 MIM:604265; AllianceGenome:HGNC:3231 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 EGFL2; MEGF3; ADGRC2; CDHF10; Flamingo1 Summary The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. The specific function of this particular member has not been determined. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 19.7), skin (RPKM 15.6) and 10 other tissues See more Orthologs mouse all
CELSR3, Official Symbol CELSR3provided by HGNC Official Full Name cadherin EGF LAG seven-pass G-type receptor 3provided by HGNC Primary source HGNC:HGNC:3230 See related Ensembl:ENSG00000008300 MIM:604264; AllianceGenome:HGNC:3230 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 FMI1; EGFL1; HFMI1; MEGF2; ADGRC3; CDHF11; RESDA1 Summary This gene belongs to the flamingo subfamily, which is included in the cadherin superfamily. The flamingo cadherins consist of nonclassic-type cadherins that do not interact with catenins. They are plasma membrane proteins containing seven epidermal growth factor-like repeats, nine cadherin domains and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic feature of their subfamily. The encoded protein may be involved in the regulation of contact-dependent neurite growth and may play a role in tumor formation. [provided by RefSeq, Jun 2013] Expression Broad expression in brain (RPKM 3.0), testis (RPKM 2.3) and 17 other tissues See more Orthologs mouse all
CEMIP, Official Symbol CEMIPprovided by HGNC Official Full Name cell migration inducing hyaluronidase 1provided by HGNC Primary source HGNC:HGNC:29213 See related Ensembl:ENSG00000103888 MIM:608366; AllianceGenome:HGNC:29213 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 CCSP1; HYBID; CEMIP1; TMEM2L; KIAA1199 Summary Enables several functions, including clathrin heavy chain binding activity; hyaluronic acid binding activity; and hyalurononglucosaminidase activity. Involved in several processes, including hyaluronan catabolic process; positive regulation of protein phosphorylation; and positive regulation of transport. Located in clathrin-coated endocytic vesicle; endoplasmic reticulum; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in endometrium (RPKM 32.4), appendix (RPKM 6.2) and 5 other tissues See more Orthologs mouse all
CEMIP2, Official Symbol CEMIP2provided by HGNC Official Full Name cell migration inducing hyaluronidase 2provided by HGNC Primary source HGNC:HGNC:11869 See related Ensembl:ENSG00000135048 MIM:605835; AllianceGenome:HGNC:11869 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 TMEM2 Summary This gene encodes a type II transmembrane protein that belongs to the interferon-induced transmembrane (IFITM) protein superfamily. The encoded protein functions as a cell surface hyaluronidase that cleaves extracellular high molecular weight hyaluronan into intermediate size fragments before internalization and degradation in the lysosome. It also has an interferon-mediated antiviral function in humans through activation of the JAK STAT signaling pathway. The activation of this gene by transcription factor SOX4 in breast cancer cells has been shown to mediate the pathological effects of SOX4 on cancer progression. Naturally occurring mutations in this gene are associated with autosomal recessive non-syndromic hearing loss. [provided by RefSeq, Mar 2017] Expression Broad expression in placenta (RPKM 42.4), gall bladder (RPKM 25.8) and 23 other tissues See more Orthologs mouse all
CEMP1, Official Symbol CEMP1provided by HGNC Official Full Name cementum protein 1provided by HGNC Primary source HGNC:HGNC:32553 See related Ensembl:ENSG00000205923 MIM:611113; AllianceGenome:HGNC:32553 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 CP23; CP-23 Summary Enables hydroxyapatite binding activity. Involved in several processes, including biomineral tissue development; cell population proliferation; and odontogenesis. Located in cytoplasm and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
CENATAC, Official Symbol CENATACprovided by HGNC Official Full Name centrosomal AT-AC splicing factorprovided by HGNC Primary source HGNC:HGNC:30460 See related Ensembl:ENSG00000186166 MIM:620142; AllianceGenome:HGNC:30460 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 MVA4; CCDC84; DLNB14 Summary This gene encodes a protein thought to contain a coiled coil motif. No function has been determined for the encoded protein. A pseudogene of this gene is located on chromosome 20. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] Expression Ubiquitous expression in skin (RPKM 3.1), spleen (RPKM 2.7) and 25 other tissues See more Orthologs mouse all
CENATAC-DT, Official Symbol CENATAC-DTprovided by HGNC Official Full Name CENATAC divergent transcriptprovided by HGNC Primary source HGNC:HGNC:54215 See related AllianceGenome:HGNC:54215 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 CCDC84-DT Annotation information not in current annotation release Expression Low expression observed in reference dataset See more
CEND1, Official Symbol CEND1provided by HGNC Official Full Name cell cycle exit and neuronal differentiation 1provided by HGNC Primary source HGNC:HGNC:24153 See related Ensembl:ENSG00000184524 MIM:608213; AllianceGenome:HGNC:24153 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 BM88 Summary The protein encoded by this gene is a neuron-specific protein. The similar protein in pig enhances neuroblastoma cell differentiation in vitro and may be involved in neuronal differentiation in vivo. Multiple pseudogenes have been reported for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 37.5) and adrenal (RPKM 2.6) See more Orthologs mouse all
CENPA, Official Symbol CENPAprovided by HGNC Official Full Name centromere protein Aprovided by HGNC Primary source HGNC:HGNC:1851 See related Ensembl:ENSG00000115163 MIM:117139; AllianceGenome:HGNC:1851 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 CenH3; CENP-A Summary Centromeres are the differentiated chromosomal domains that specify the mitotic behavior of chromosomes. This gene encodes a centromere protein which contains a histone H3 related histone fold domain that is required for targeting to the centromere. Centromere protein A is proposed to be a component of a modified nucleosome or nucleosome-like structure in which it replaces 1 or both copies of conventional histone H3 in the (H3-H4)2 tetrameric core of the nucleosome particle. The protein is a replication-independent histone that is a member of the histone H3 family. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2015] Expression Broad expression in lymph node (RPKM 4.5), appendix (RPKM 2.5) and 14 other tissues See more Orthologs mouse all
CENPB, Official Symbol CENPBprovided by HGNC Official Full Name centromere protein Bprovided by HGNC Primary source HGNC:HGNC:1852 See related Ensembl:ENSG00000125817 MIM:117140; AllianceGenome:HGNC:1852 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 highly conserved protein that facilitates centromere formation. It is a DNA-binding protein that is derived from transposases of the pogo DNA transposon family. It contains a helix-loop-helix DNA binding motif at the N-terminus, and a dimerization domain at the C-terminus. The DNA binding domain recognizes and binds a 17-bp sequence (CENP-B box) in the centromeric alpha satellite DNA. This protein is proposed to play an important role in the assembly of specific centromere structures in interphase nuclei and on mitotic chromosomes. It is also considered a major centromere autoantigen recognized by sera from patients with anti-centromere antibodies. [provided by RefSeq, Jul 2008] Orthologs mouse all
CENPC, Official Symbol CENPCprovided by HGNC Official Full Name centromere protein Cprovided by HGNC Primary source HGNC:HGNC:1854 See related Ensembl:ENSG00000145241 MIM:117141; AllianceGenome:HGNC:1854 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 MIF2; hcp-4; CENP-C; CENPC1 Summary Centromere protein C 1 is a centromere autoantigen and a component of the inner kinetochore plate. The protein is required for maintaining proper kinetochore size and a timely transition to anaphase. A putative pseudogene exists on chromosome 12. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 7.9), testis (RPKM 4.6) and 25 other tissues See more Orthologs mouse all
CENPCP1, Official Symbol CENPCP1provided by HGNC Official Full Name centromere protein C pseudogene 1provided by HGNC Primary source HGNC:HGNC:1855 See related Ensembl:ENSG00000226982 AllianceGenome:HGNC:1855 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 CENPC; CENPC2; CENPC1P1
CENPE, Official Symbol CENPEprovided by HGNC Official Full Name centromere protein Eprovided by HGNC Primary source HGNC:HGNC:1856 See related Ensembl:ENSG00000138778 MIM:117143; AllianceGenome:HGNC:1856 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 KIF10; CENP-E; MCPH13; PPP1R61 Summary Centrosome-associated protein E (CENPE) is a kinesin-like motor protein that accumulates in the G2 phase of the cell cycle. Unlike other centrosome-associated proteins, it is not present during interphase and first appears at the centromere region of chromosomes during prometaphase. This protein is required for stable spindle microtubule capture at kinetochores which is a necessary step in chromosome alignment during prometaphase. This protein also couples chromosome position to microtubule depolymerizing activity. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Nov 2014] Expression Broad expression in bone marrow (RPKM 3.4), lymph node (RPKM 3.3) and 18 other tissues See more Orthologs mouse all
CENPF, Official Symbol CENPFprovided by HGNC Official Full Name centromere protein Fprovided by HGNC Primary source HGNC:HGNC:1857 See related Ensembl:ENSG00000117724 MIM:600236; AllianceGenome:HGNC:1857 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 CENF; hcp-1; CILD31; STROMS; PRO1779 Summary This gene encodes a protein that associates with the centromere-kinetochore complex. The protein is a component of the nuclear matrix during the G2 phase of interphase. In late G2 the protein associates with the kinetochore and maintains this association through early anaphase. It localizes to the spindle midzone and the intracellular bridge in late anaphase and telophase, respectively, and is thought to be subsequently degraded. The localization of this protein suggests that it may play a role in chromosome segregation during mitotis. It is thought to form either a homodimer or heterodimer. Autoantibodies against this protein have been found in patients with cancer or graft versus host disease. [provided by RefSeq, Jul 2008] Expression Broad expression in bone marrow (RPKM 9.7), testis (RPKM 6.0) and 15 other tissues See more Orthologs mouse all
CENPH, Official Symbol CENPHprovided by HGNC Official Full Name centromere protein Hprovided by HGNC Primary source HGNC:HGNC:17268 See related Ensembl:ENSG00000153044 MIM:605607; AllianceGenome:HGNC:17268 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 Centromere and kinetochore proteins play a critical role in centromere structure, kinetochore formation, and sister chromatid separation. The protein encoded by this gene colocalizes with inner kinetochore plate proteins CENP-A and CENP-C in both interphase and metaphase. It localizes outside of centromeric heterochromatin, where CENP-B is localized, and inside the kinetochore corona, where CENP-E is localized during prometaphase. It is thought that this protein can bind to itself, as well as to CENP-A, CENP-B or CENP-C. Multimers of the protein localize constitutively to the inner kinetochore plate and play an important role in the organization and function of the active centromere-kinetochore complex. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 14.9), bone marrow (RPKM 9.5) and 20 other tissues See more Orthologs mouse all