psui3905/ncbi_genes_summary huggingface dataset:
PNPLA2, Official Symbol PNPLA2provided by HGNC Official Full Name patatin like phospholipase domain containing 2provided by HGNC Primary source HGNC:HGNC:30802 See related Ensembl:ENSG00000177666 MIM:609059; AllianceGenome:HGNC:30802 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 ATGL; TTS2; PEDF-R; FP17548; TTS-2.2; iPLA2zeta; 1110001C14Rik Summary This gene encodes an enzyme which catalyzes the first step in the hydrolysis of triglycerides in adipose tissue. Mutations in this gene are associated with neutral lipid storage disease with myopathy. [provided by RefSeq, Jul 2010] Expression Biased expression in fat (RPKM 355.9), bone marrow (RPKM 27.0) and 7 other tissues See more Orthologs mouse all
PNPLA3, Official Symbol PNPLA3provided by HGNC Official Full Name patatin like phospholipase domain containing 3provided by HGNC Primary source HGNC:HGNC:18590 See related Ensembl:ENSG00000100344 MIM:609567; AllianceGenome:HGNC:18590 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 ADPN; C22orf20; iPLA(2)epsilon Summary The protein encoded by this gene is a triacylglycerol lipase that mediates triacylglycerol hydrolysis in adipocytes. The encoded protein, which appears to be membrane bound, may be involved in the balance of energy usage/storage in adipocytes. [provided by RefSeq, Jul 2008] Expression Biased expression in liver (RPKM 8.6), kidney (RPKM 3.4) and 4 other tissues See more Orthologs mouse all
PNPLA4, Official Symbol PNPLA4provided by HGNC Official Full Name patatin like phospholipase domain containing 4provided by HGNC Primary source HGNC:HGNC:24887 See related Ensembl:ENSG00000006757 MIM:300102; AllianceGenome:HGNC:24887 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 GS2; DXS1283E; iPLA2eta Summary This gene encodes a member of the patatin-like family of phospholipases. The encoded enzyme has both triacylglycerol lipase and transacylase activities and may be involved in adipocyte triglyceride homeostasis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome Y. [provided by RefSeq, Feb 2010] Expression Ubiquitous expression in kidney (RPKM 9.2), thyroid (RPKM 8.6) and 25 other tissues See more Orthologs all
PNPLA5, Official Symbol PNPLA5provided by HGNC Official Full Name patatin like phospholipase domain containing 5provided by HGNC Primary source HGNC:HGNC:24888 See related Ensembl:ENSG00000100341 MIM:611589; AllianceGenome:HGNC:24888 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 GS2L; dJ388M5; dJ388M5.4 Summary This gene is a member of the patatin-like phospholipase family; its encoded protein has been shown to inhibit transacylation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2010] Expression Low expression observed in reference dataset See more Orthologs mouse all
PNPLA6, Official Symbol PNPLA6provided by HGNC Official Full Name patatin like phospholipase domain containing 6provided by HGNC Primary source HGNC:HGNC:16268 See related Ensembl:ENSG00000032444 MIM:603197; AllianceGenome:HGNC:16268 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 NTE; sws; BNHS; LNMS; OMCS; SPG39; NTEMND; iPLA2delta Summary This gene encodes a phospholipase that deacetylates intracellular phosphatidylcholine to produce glycerophosphocholine. It is thought to function in neurite outgrowth and process elongation during neuronal differentiation. The protein is anchored to the cytoplasmic face of the endoplasmic reticulum in both neurons and non-neuronal cells. Mutations in this gene result in autosomal recessive spastic paraplegia, and the protein is the target for neurodegeneration induced by organophosphorus compounds and chemical warfare agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] Expression Ubiquitous expression in lung (RPKM 16.4), testis (RPKM 15.9) and 25 other tissues See more Orthologs mouse all
PNPLA7, Official Symbol PNPLA7provided by HGNC Official Full Name patatin like phospholipase domain containing 7provided by HGNC Primary source HGNC:HGNC:24768 See related Ensembl:ENSG00000130653 MIM:612122; AllianceGenome:HGNC:24768 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 NTEL1; NTE-R1; C9orf111 Summary Human patatin-like phospholipases, such as PNPLA7, have been implicated in regulation of adipocyte differentiation and have been induced by metabolic stimuli (Wilson et al., 2006 [PubMed 16799181]).[supplied by OMIM, Jun 2008] Expression Ubiquitous expression in prostate (RPKM 6.3), skin (RPKM 4.2) and 24 other tissues See more Orthologs mouse all
PNPLA8, Official Symbol PNPLA8provided by HGNC Official Full Name patatin like phospholipase domain containing 8provided by HGNC Primary source HGNC:HGNC:28900 See related Ensembl:ENSG00000135241 MIM:612123; AllianceGenome:HGNC:28900 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 MMLA; IPLA2G; IPLA2-2; iPLA2gamma; PNPLA-gamma Summary This gene encodes a member of the patatin-like phospholipase domain containing protein family. Members of this family are phospholipases which catalyze the cleavage of fatty acids from membrane phospholipids. The product of this gene is a calcium-independent phospholipase. Mutations in this gene have been associated with mitochondrial myopathy with lactic acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2015] Expression Ubiquitous expression in bone marrow (RPKM 15.3), adrenal (RPKM 14.6) and 25 other tissues See more Orthologs mouse all
PNPO, Official Symbol PNPOprovided by HGNC Official Full Name pyridoxamine 5'-phosphate oxidaseprovided by HGNC Primary source HGNC:HGNC:30260 See related Ensembl:ENSG00000108439 MIM:603287; AllianceGenome:HGNC:30260 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 PDXPO; HEL-S-302 Summary The enzyme encoded by this gene catalyzes the terminal, rate-limiting step in the synthesis of pyridoxal 5'-phosphate, also known as vitamin B6. Vitamin B6 is a required co-factor for enzymes involved in both homocysteine metabolism and synthesis of neurotransmitters such as catecholamine. Mutations in this gene result in pyridoxamine 5'-phosphate oxidase (PNPO) deficiency, a form of neonatal epileptic encephalopathy. [provided by RefSeq, Oct 2008] Expression Ubiquitous expression in liver (RPKM 22.0), kidney (RPKM 16.0) and 23 other tissues See more Orthologs mouse all
PNPT1, Official Symbol PNPT1provided by HGNC Official Full Name polyribonucleotide nucleotidyltransferase 1provided by HGNC Primary source HGNC:HGNC:23166 See related Ensembl:ENSG00000138035 MIM:610316; AllianceGenome:HGNC:23166 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 OLD35; SCA25; DFNB70; PNPASE; old-35; COXPD13 Summary The protein encoded by this gene belongs to the evolutionary conserved polynucleotide phosphorylase family comprised of phosphate dependent 3'-to-5' exoribonucleases implicated in RNA processing and degradation. This enzyme is predominantly localized in the mitochondrial intermembrane space and is involved in import of RNA to mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency-13 and autosomal recessive nonsyndromic deafness-70. Related pseudogenes are found on chromosomes 3 and 7. [provided by RefSeq, Dec 2012] Expression Ubiquitous expression in thyroid (RPKM 6.2), testis (RPKM 5.9) and 25 other tissues See more Orthologs mouse all
PNRC1, Official Symbol PNRC1provided by HGNC Official Full Name proline rich nuclear receptor coactivator 1provided by HGNC Primary source HGNC:HGNC:17278 See related Ensembl:ENSG00000146278 MIM:606714; AllianceGenome:HGNC:17278 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 B4-2; PRR2; PROL2; PNAS-145 Summary Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 61.8), adrenal (RPKM 44.5) and 25 other tissues See more Orthologs mouse all
PNRC2, Official Symbol PNRC2provided by HGNC Official Full Name proline rich nuclear receptor coactivator 2provided by HGNC Primary source HGNC:HGNC:23158 See related Ensembl:ENSG00000189266 MIM:611882; AllianceGenome:HGNC:23158 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 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay. Located in Golgi apparatus; P-body; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Note: GeneID 100132235 was merged into this record because the clone on which it was annotated, BX511012.5, was determined to be redundent. [27 May 2009] Expression Ubiquitous expression in thyroid (RPKM 68.8), lymph node (RPKM 67.1) and 25 other tissues See more Orthologs mouse all
POC1A, Official Symbol POC1Aprovided by HGNC Official Full Name POC1 centriolar protein Aprovided by HGNC Primary source HGNC:HGNC:24488 See related Ensembl:ENSG00000164087 MIM:614783; AllianceGenome:HGNC:24488 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 PIX2; SOFT; WDR51A Summary POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutations in this gene result in short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) syndrome. [provided by RefSeq, Sep 2012] Expression Broad expression in testis (RPKM 5.0), bone marrow (RPKM 2.2) and 21 other tissues See more Orthologs mouse all
POC1B, Official Symbol POC1Bprovided by HGNC Official Full Name POC1 centriolar protein Bprovided by HGNC Primary source HGNC:HGNC:30836 See related Ensembl:ENSG00000139323 MIM:614784; AllianceGenome:HGNC:30836 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 PIX1; CORD20; TUWD12; WDR51B Summary POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutation in this gene result in autosomal-recessive cone-rod dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014] Expression Ubiquitous expression in colon (RPKM 7.2), small intestine (RPKM 5.7) and 25 other tissues See more Orthologs mouse all
POC1B-GALNT4, Official Symbol POC1B-GALNT4provided by HGNC Official Full Name POC1B-GALNT4 readthroughprovided by HGNC Primary source HGNC:HGNC:42957 See related Ensembl:ENSG00000259075 AllianceGenome:HGNC:42957 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 GALNT4; GalNAc-T4 Summary This locus represents naturally occurring transcripts that splice the 5' exons of the POC1B (POC1 centriolar protein homolog B) gene on chromosome 12 to the GALNT4 (UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4) gene, which is located within a POC1B intron. Alternative splicing results in two transcript variants, one of which encodes a fusion isoform that shares sequence identity with the products of each individual gene. [provided by RefSeq, Dec 2010] Expression Broad expression in stomach (RPKM 16.0), colon (RPKM 14.9) and 24 other tissues See more Orthologs all
POC5, Official Symbol POC5provided by HGNC Official Full Name POC5 centriolar proteinprovided by HGNC Primary source HGNC:HGNC:26658 See related Ensembl:ENSG00000152359 MIM:617880; AllianceGenome:HGNC:26658 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 C5orf37 Summary Predicted to enable identical protein binding activity. Located in centrosome; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 10.4), lymph node (RPKM 4.7) and 24 other tissues See more Orthologs mouse all
PODN, Official Symbol PODNprovided by HGNC Official Full Name podocanprovided by HGNC Primary source HGNC:HGNC:23174 See related Ensembl:ENSG00000174348 MIM:608661; AllianceGenome:HGNC:23174 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 PCAN; SLRR5A Summary The protein encoded by this gene is a member of the small leucine-rich repeat protein family and contains an amino terminal CX3CXCX7C cysteine-rich cluster followed by a leucine-rich repeat domain. Studies suggest that this protein could function to inhibit smooth muscle cell proliferation and migration following arterial injury. [provided by RefSeq, Jul 2016] Expression Broad expression in gall bladder (RPKM 52.1), ovary (RPKM 37.5) and 19 other tissues See more Orthologs mouse all
PODNL1, Official Symbol PODNL1provided by HGNC Official Full Name podocan like 1provided by HGNC Primary source HGNC:HGNC:26275 See related Ensembl:ENSG00000132000 AllianceGenome:HGNC:26275 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 SLRR5B Summary Predicted to be located in collagen-containing extracellular matrix. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in placenta (RPKM 1.8), skin (RPKM 0.8) and 19 other tissues See more Orthologs mouse all
PODXL, Official Symbol PODXLprovided by HGNC Official Full Name podocalyxin likeprovided by HGNC Primary source HGNC:HGNC:9171 See related Ensembl:ENSG00000128567 MIM:602632; AllianceGenome:HGNC:9171 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 PC; PDX; PCLP; Gp200; gp135; PCLP-1; PODXL1 Summary This gene encodes a member of the sialomucin protein family. The encoded protein was originally identified as an important component of glomerular podocytes. Podocytes are highly differentiated epithelial cells with interdigitating foot processes covering the outer aspect of the glomerular basement membrane. Other biological activities of the encoded protein include: binding in a membrane protein complex with Na+/H+ exchanger regulatory factor to intracellular cytoskeletal elements, playing a role in hematopoetic cell differentiation, and being expressed in vascular endothelium cells and binding to L-selectin. [provided by RefSeq, Jul 2008] Expression Broad expression in kidney (RPKM 88.8), lung (RPKM 31.4) and 19 other tissues See more Orthologs mouse all
PODXL2, Official Symbol PODXL2provided by HGNC Official Full Name podocalyxin like 2provided by HGNC Primary source HGNC:HGNC:17936 See related Ensembl:ENSG00000114631 MIM:616627; AllianceGenome:HGNC:17936 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 EG; PODLX2 Summary This gene is a member of the CD34 family of cell surface transmembrane proteins, which are characterized by an N-terminal extracellular mucin domain, globular and stalk domains, a single pass transmembrane region, and a charged cytoplasmic tail. The encoded protein is a ligand for vascular selectins. [provided by RefSeq, Oct 2012] Expression Broad expression in brain (RPKM 27.2), testis (RPKM 16.2) and 16 other tissues See more Orthologs mouse all
POF1B, Official Symbol POF1Bprovided by HGNC Official Full Name POF1B actin binding proteinprovided by HGNC Primary source HGNC:HGNC:13711 See related Ensembl:ENSG00000124429 MIM:300603; AllianceGenome:HGNC:13711 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 POF; POF2B Summary Premature ovarian failure (POF) is characterized by primary or secondary amenorrhea in women less than 40 years old. Two POF susceptibility regions called "POF1" and "POF2" have been identified by breakpoint mapping of X-autosome translocations. POF1 extends from Xq21-qter while POF2 extends from Xq13.3 to Xq21.1. This gene, POF1B, resides in the POF2 region. This gene is expressed at trace levels in mouse prenatal ovary and is barely detectable or absent from adult ovary, in human and in the mouse respectively. This gene's expression is restricted to epithelia with its highest expression in the epidermis, and oro-pharyngeal and gastro-intestinal tracts. The protein encoded by this gene binds non-muscle actin filaments. The role this gene may play in the etiology of premature ovarian failure remains to be determined. [provided by RefSeq, Jan 2010] Expression Biased expression in skin (RPKM 60.6), colon (RPKM 34.9) and 8 other tissues See more Orthologs mouse all
POFUT1, Official Symbol POFUT1provided by HGNC Official Full Name protein O-fucosyltransferase 1provided by HGNC Primary source HGNC:HGNC:14988 See related Ensembl:ENSG00000101346 MIM:607491; AllianceGenome:HGNC:14988 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 DDD2; FUT12; O-FUT; OFUCT1; O-Fuc-T; O-FucT-1 Summary This gene encodes a member of the glycosyltransferase O-Fuc family. This enzyme adds O-fucose through an O-glycosidic linkage to conserved serine or threonine residues in the epidermal growth factor-like repeats of a number of cell surface and secreted proteins. O-fucose glycans are involved in ligand-induced receptor signaling. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 10.9), small intestine (RPKM 10.7) and 25 other tissues See more Orthologs mouse all
POFUT2, Official Symbol POFUT2provided by HGNC Official Full Name protein O-fucosyltransferase 2provided by HGNC Primary source HGNC:HGNC:14683 See related Ensembl:ENSG00000186866 MIM:610249; AllianceGenome:HGNC:14683 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 FUT13; C21orf80 Summary Fucose is typically found as a terminal modification of branched chain glycoconjugates, but it also exists in direct O-linkage to serine or threonine residues within cystine knot motifs in epidermal growth factor (EGF; MIM 131530)-like repeats or thrombospondin (THBS; see MIM 188060) type-1 repeats. POFUT2 is an O-fucosyltransferase that use THBS type-1 repeats as substrates (Luo et al., 2006 [PubMed 16464857]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in testis (RPKM 7.6), placenta (RPKM 6.4) and 25 other tissues See more Orthologs mouse all
POGK, Official Symbol POGKprovided by HGNC Official Full Name pogo transposable element derived with KRAB domainprovided by HGNC Primary source HGNC:HGNC:18800 See related Ensembl:ENSG00000143157 MIM:620039; AllianceGenome:HGNC:18800 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 BASS2; KRBOX2; LST003 Summary The exact function of the protein encoded by this gene is not known. However, this gene product contains a KRAB domain (which is involved in protein-protein interactions) at the N-terminus, and a transposase domain at the C-terminus, suggesting that it may belong to the family of DNA-mediated transposons in human. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 8.9), lung (RPKM 8.9) and 25 other tissues See more Orthologs mouse all
POGLUT1, Official Symbol POGLUT1provided by HGNC Official Full Name protein O-glucosyltransferase 1provided by HGNC Primary source HGNC:HGNC:22954 See related Ensembl:ENSG00000163389 MIM:615618; AllianceGenome:HGNC:22954 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 Rumi; CLP46; MDSRP; C3orf9; KTELC1; LGMD2Z; MDS010; hCLP46; KDELCL1; LGMDR21 Summary This gene encodes a protein with both O-glucosyltransferase and O-xylosyltransferase activity which localizes to the lumen of the endoplasmic reticulum. This protein has a carboxy-terminal KTEL motif which is predicted to function as an endoplasmic reticulum retention signal. This gene is an essential regulator of Notch signalling and likely plays a role in cell fate and tissue formation during development. It may also play a role in the pathogenesis of leukemia. Mutations in this gene have been associated with the autosomal dominant genodermatosis Dowling-Degos disease 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014] Expression Ubiquitous expression in lymph node (RPKM 6.1), appendix (RPKM 5.7) and 25 other tissues See more Orthologs mouse all
POGLUT2, Official Symbol POGLUT2provided by HGNC Official Full Name protein O-glucosyltransferase 2provided by HGNC Primary source HGNC:HGNC:19350 See related Ensembl:ENSG00000134901 MIM:611613; AllianceGenome:HGNC:19350 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 EP58; ERp58; KDEL1; KDELC1 Summary This gene encodes a protein product localized to the lumen of the endoplasmic reticulum. As a member of the endoplasmic reticulum protein family the encoded protein contains a Lys-Asp-Glu-Leu or KDEL motif located at the extreme C-terminus which prevents all endoplasmic reticulum resident proteins from being secreted. Proteins carrying this motif are bound by a receptor in the Golgi apparatus so that the receptor-ligand complex returns to the endoplasmic reticulum. A processed non-transcribed pseudogene located in an intron of a sodium transporter gene on chromosome 5 has been defined for this gene. This gene has multiple transcript variants which are predicted to encode distinct isoforms. [provided by RefSeq, Jan 2016] Expression Ubiquitous expression in placenta (RPKM 5.5), endometrium (RPKM 5.0) and 24 other tissues See more Orthologs mouse all
POGLUT3, Official Symbol POGLUT3provided by HGNC Official Full Name protein O-glucosyltransferase 3provided by HGNC Primary source HGNC:HGNC:28496 See related Ensembl:ENSG00000178202 MIM:618503; AllianceGenome:HGNC:28496 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 KDELC2 Summary Enables UDP-glucosyltransferase activity and UDP-xylosyltransferase activity. Involved in protein O-linked glycosylation via serine. Predicted to be located in endoplasmic reticulum lumen. Predicted to be active in endomembrane system. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in endometrium (RPKM 18.2), ovary (RPKM 17.7) and 25 other tissues See more Orthologs mouse all
POGZ, Official Symbol POGZprovided by HGNC Official Full Name pogo transposable element derived with ZNF domainprovided by HGNC Primary source HGNC:HGNC:18801 See related Ensembl:ENSG00000143442 MIM:614787; AllianceGenome:HGNC:18801 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 MRD37; WHSUS; ZNF635; ZNF280E; ZNF635m Summary The protein encoded by this gene appears to be a zinc finger protein containing a transposase domain at the C-terminus. This protein was found to interact with the transcription factor SP1 in a yeast two-hybrid system. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Aug 2010] Expression Ubiquitous expression in ovary (RPKM 11.8), testis (RPKM 9.5) and 25 other tissues See more Orthologs mouse all
POLA1, Official Symbol POLA1provided by HGNC Official Full Name DNA polymerase alpha 1, catalytic subunitprovided by HGNC Primary source HGNC:HGNC:9173 See related Ensembl:ENSG00000101868 MIM:312040; AllianceGenome:HGNC:9173 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 NSX; PDR; POLA; p180; VEODS Summary This gene encodes the catalytic subunit of DNA polymerase, which together with a regulatory and two primase subunits, forms the DNA polymerase alpha complex. The catalytic subunit plays an essential role in the initiation of DNA replication. [provided by RefSeq, Mar 2010] Expression Ubiquitous expression in lymph node (RPKM 2.6), bone marrow (RPKM 2.2) and 25 other tissues See more Orthologs mouse all
POLA2, Official Symbol POLA2provided by HGNC Official Full Name DNA polymerase alpha 2, accessory subunitprovided by HGNC Primary source HGNC:HGNC:30073 See related Ensembl:ENSG00000014138 MIM:620063; AllianceGenome:HGNC:30073 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 Predicted to enable DNA binding activity. Involved in DNA replication, synthesis of RNA primer. Located in cytosol and nucleoplasm. Part of alpha DNA polymerase:primase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 4.3), appendix (RPKM 2.9) and 25 other tissues See more Orthologs mouse all
POLB, Official Symbol POLBprovided by HGNC Official Full Name DNA polymerase betaprovided by HGNC Primary source HGNC:HGNC:9174 See related Ensembl:ENSG00000070501 MIM:174760; AllianceGenome:HGNC:9174 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary The protein encoded by this gene is a DNA polymerase involved in base excision and repair, also called gap-filling DNA synthesis. The encoded protein, acting as a monomer, is normally found in the cytoplasm, but it translocates to the nucleus upon DNA damage. Several transcript variants of this gene exist, but the full-length nature of only one has been described to date. [provided by RefSeq, Sep 2011] Expression Broad expression in testis (RPKM 24.2), urinary bladder (RPKM 8.5) and 24 other tissues See more Orthologs mouse all
POLD1, Official Symbol POLD1provided by HGNC Official Full Name DNA polymerase delta 1, catalytic subunitprovided by HGNC Primary source HGNC:HGNC:9175 See related Ensembl:ENSG00000062822 MIM:174761; AllianceGenome:HGNC:9175 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 CDC2; MDPL; POLD; CRCS10 Summary This gene encodes the 125-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Mar 2012] Expression Broad expression in bone marrow (RPKM 7.5), testis (RPKM 4.7) and 24 other tissues See more Orthologs mouse all
POLD2, Official Symbol POLD2provided by HGNC Official Full Name DNA polymerase delta 2, accessory subunitprovided by HGNC Primary source HGNC:HGNC:9176 See related Ensembl:ENSG00000106628 MIM:600815; AllianceGenome:HGNC:9176 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 the 50-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein is required for the stimulation of DNA polymerase delta activity by the processivity cofactor proliferating cell nuclear antigen (PCNA). Expression of this gene may be a marker for ovarian carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Mar 2012] Expression Ubiquitous expression in heart (RPKM 20.0), ovary (RPKM 19.1) and 25 other tissues See more Orthologs mouse all
POLD3, Official Symbol POLD3provided by HGNC Official Full Name DNA polymerase delta 3, accessory subunitprovided by HGNC Primary source HGNC:HGNC:20932 See related Ensembl:ENSG00000077514 MIM:611415; AllianceGenome:HGNC:20932 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 P66; P68; PPP1R128 Summary This gene encodes the 66-kDa subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein plays a role in regulating the activity of DNA polymerase delta through interactions with other subunits and the processivity cofactor proliferating cell nuclear antigen (PCNA). Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012] Expression Ubiquitous expression in testis (RPKM 7.5), colon (RPKM 6.2) and 25 other tissues See more Orthologs mouse all
POLD4, Official Symbol POLD4provided by HGNC Official Full Name DNA polymerase delta 4, accessory subunitprovided by HGNC Primary source HGNC:HGNC:14106 See related Ensembl:ENSG00000175482 MIM:611525; AllianceGenome:HGNC:14106 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 p12; POLDS Summary This gene encodes the smallest subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein enhances the activity of DNA polymerase delta and plays a role in fork repair and stabilization through interactions with the DNA helicase Bloom syndrome protein. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012] Expression Ubiquitous expression in lymph node (RPKM 33.7), small intestine (RPKM 29.8) and 25 other tissues See more Orthologs mouse all
POLDIP2, Official Symbol POLDIP2provided by HGNC Official Full Name DNA polymerase delta interacting protein 2provided by HGNC Primary source HGNC:HGNC:23781 See related Ensembl:ENSG00000004142 MIM:611519; AllianceGenome:HGNC:23781 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 p38; POLD4; PDIP38 Summary This gene encodes a protein that interacts with the DNA polymerase delta p50 subunit, as well as with proliferating cell nuclear antigen. The encoded protein maybe play a role in the ability of the replication fork to bypass DNA lesions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] Expression Ubiquitous expression in kidney (RPKM 32.9), adrenal (RPKM 29.4) and 25 other tissues See more Orthologs mouse all
POLDIP3, Official Symbol POLDIP3provided by HGNC Official Full Name DNA polymerase delta interacting protein 3provided by HGNC Primary source HGNC:HGNC:23782 See related Ensembl:ENSG00000100227 MIM:611520; AllianceGenome:HGNC:23782 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 SKAR; PDIP3; PDIP46 Summary This gene encodes an RRM (RNA recognition motif)-containing protein that participates in the regulation of translation by recruiting ribosomal protein S6 kinase beta-1 to mRNAs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in ovary (RPKM 49.2), bone marrow (RPKM 26.9) and 25 other tissues See more Orthologs mouse all
POLE, Official Symbol POLEprovided by HGNC Official Full Name DNA polymerase epsilon, catalytic subunitprovided by HGNC Primary source HGNC:HGNC:9177 See related Ensembl:ENSG00000177084 MIM:174762; AllianceGenome:HGNC:9177 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 FILS; POLE1; CRCS12; IMAGEI Summary This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013] Expression Broad expression in bone marrow (RPKM 12.9), testis (RPKM 10.8) and 24 other tissues See more Orthologs mouse all
POLE2, Official Symbol POLE2provided by HGNC Official Full Name DNA polymerase epsilon 2, accessory subunitprovided by HGNC Primary source HGNC:HGNC:9178 See related Ensembl:ENSG00000100479 MIM:602670; AllianceGenome:HGNC:9178 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 DPE2 Summary DNA polymerase epsilon, which is involved in DNA repair and replication, is composed of a large catalytic subunit and a small accessory subunit. The protein encoded by this gene represents the small subunit (B). Defects in this gene have been linked to colorectal cancer and to combined immunodeficiency. [provided by RefSeq, Jan 2017] Expression Broad expression in bone marrow (RPKM 3.7), appendix (RPKM 1.6) and 21 other tissues See more Orthologs mouse all
POLE3, Official Symbol POLE3provided by HGNC Official Full Name DNA polymerase epsilon 3, accessory subunitprovided by HGNC Primary source HGNC:HGNC:13546 See related Ensembl:ENSG00000148229 MIM:607267; AllianceGenome:HGNC:13546 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 p17; YBL1; CHRAC2; CHRAC17; CHARAC17 Summary POLE3 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004] Expression Ubiquitous expression in bone marrow (RPKM 36.1), testis (RPKM 24.6) and 25 other tissues See more Orthologs mouse all
POLE4, Official Symbol POLE4provided by HGNC Official Full Name DNA polymerase epsilon 4, accessory subunitprovided by HGNC Primary source HGNC:HGNC:18755 See related Ensembl:ENSG00000115350 MIM:607269; AllianceGenome:HGNC:18755 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 p12; YHHQ1 Summary POLE4 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004] Expression Ubiquitous expression in fat (RPKM 27.9), bone marrow (RPKM 20.0) and 25 other tissues See more Orthologs mouse all
POLG, Official Symbol POLGprovided by HGNC Official Full Name DNA polymerase gamma, catalytic subunitprovided by HGNC Primary source HGNC:HGNC:9179 See related Ensembl:ENSG00000140521 MIM:174763; AllianceGenome:HGNC:9179 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 PEO; MDP1; SCAE; MIRAS; POLG1; POLGA; SANDO; MTDPS4A; MTDPS4B Summary Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lymph node (RPKM 14.2), spleen (RPKM 13.3) and 25 other tissues See more Orthologs mouse all
POLG2, Official Symbol POLG2provided by HGNC Official Full Name DNA polymerase gamma 2, accessory subunitprovided by HGNC Primary source HGNC:HGNC:9180 See related Ensembl:ENSG00000256525 MIM:604983; AllianceGenome:HGNC:9180 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 HP55; POLB; PEOA4; POLGB; MTPOLB; MTDPS16; MTDPS16A; MTDPS16B; POLG-BETA Summary This gene encodes the processivity subunit of the mitochondrial DNA polymerase gamma. The encoded protein forms a heterotrimer containing one catalytic subunit and two processivity subunits. This protein enhances DNA binding and promotes processive DNA synthesis. Mutations in this gene result in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions.[provided by RefSeq, Sep 2009] Expression Broad expression in testis (RPKM 7.8), lymph node (RPKM 4.4) and 25 other tissues See more Orthologs mouse all
POLH, Official Symbol POLHprovided by HGNC Official Full Name DNA polymerase etaprovided by HGNC Primary source HGNC:HGNC:9181 See related Ensembl:ENSG00000170734 MIM:603968; AllianceGenome:HGNC:9181 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 XPV; XP-V; RAD30; RAD30A Summary This gene encodes a member of the Y family of specialized DNA polymerases. It copies undamaged DNA with a lower fidelity than other DNA-directed polymerases. However, it accurately replicates UV-damaged DNA; when thymine dimers are present, this polymerase inserts the complementary nucleotides in the newly synthesized DNA, thereby bypassing the lesion and suppressing the mutagenic effect of UV-induced DNA damage. This polymerase is thought to be involved in hypermutation during immunoglobulin class switch recombination. Mutations in this gene result in XPV, a variant type of xeroderma pigmentosum. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014] Expression Ubiquitous expression in lymph node (RPKM 4.3), testis (RPKM 3.5) and 25 other tissues See more Orthologs mouse all
POLI, Official Symbol POLIprovided by HGNC Official Full Name DNA polymerase iotaprovided by HGNC Primary source HGNC:HGNC:9182 See related Ensembl:ENSG00000101751 MIM:605252; AllianceGenome:HGNC:9182 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 eta2; RAD30B; RAD3OB Summary The protein encoded by this gene is an error-prone DNA polymerase involved in DNA repair. The encoded protein promotes DNA synthesis across lesions in the template DNA, which other polymerases cannot do. The encoded polymerase inserts deoxynucleotides across lesions and then relies on DNA polymerase zeta to extend the nascent DNA strand to bypass the lesion. [provided by RefSeq, May 2017] Expression Ubiquitous expression in thyroid (RPKM 9.1), testis (RPKM 7.6) and 25 other tissues See more Orthologs mouse all
POLK, Official Symbol POLKprovided by HGNC Official Full Name DNA polymerase kappaprovided by HGNC Primary source HGNC:HGNC:9183 See related Ensembl:ENSG00000122008 MIM:605650; AllianceGenome:HGNC:9183 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 DINP; POLQ; DINB1 Summary This gene encodes a member of the DNA polymerase type-Y family of proteins. The encoded protein is a specialized DNA polymerase that catalyzes translesion DNA synthesis, which allows DNA replication in the presence of DNA lesions. Human cell lines lacking a functional copy of this gene exhibit impaired genome integrity and enhanced susceptibility to oxidative damage. Mutations in this gene that impair enzyme activity may be associated with prostate cancer in human patients. [provided by RefSeq, Sep 2016] Expression Ubiquitous expression in thyroid (RPKM 6.4), testis (RPKM 4.9) and 25 other tissues See more Orthologs mouse all
POLL, Official Symbol POLLprovided by HGNC Official Full Name DNA polymerase lambdaprovided by HGNC Primary source HGNC:HGNC:9184 See related Ensembl:ENSG00000166169 MIM:606343; AllianceGenome:HGNC:9184 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 BETAN; POLKAPPA Summary This gene encodes a DNA polymerase. DNA polymerases catalyze DNA-template-directed extension of the 3'-end of a DNA strand. This particular polymerase, which is a member of the X family of DNA polymerases, likely plays a role in non-homologous end joining and other DNA repair processes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2010] Expression Ubiquitous expression in testis (RPKM 14.9), ovary (RPKM 7.3) and 25 other tissues See more Orthologs mouse all
POLM, Official Symbol POLMprovided by HGNC Official Full Name DNA polymerase muprovided by HGNC Primary source HGNC:HGNC:9185 See related Ensembl:ENSG00000122678 MIM:606344; AllianceGenome:HGNC:9185 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 Tdt-N; Pol Mu Summary Predicted to enable DNA-directed DNA polymerase activity. Predicted to be involved in double-strand break repair via nonhomologous end joining. Predicted to act upstream of or within B cell differentiation and somatic hypermutation of immunoglobulin genes. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 6.9), lymph node (RPKM 5.6) and 25 other tissues See more Orthologs mouse all