psui3905/ncbi_genes_summary huggingface dataset:
POMT1, Official Symbol POMT1provided by HGNC Official Full Name protein O-mannosyltransferase 1provided by HGNC Primary source HGNC:HGNC:9202 See related Ensembl:ENSG00000130714 MIM:607423; AllianceGenome:HGNC:9202 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 RT; LGMD2K; MDDGA1; MDDGB1; MDDGC1; LGMDR11 Summary The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008] Expression Broad expression in testis (RPKM 20.7), brain (RPKM 7.5) and 25 other tissues See more Orthologs mouse all
POMT2, Official Symbol POMT2provided by HGNC Official Full Name protein O-mannosyltransferase 2provided by HGNC Primary source HGNC:HGNC:19743 See related Ensembl:ENSG00000009830 MIM:607439; AllianceGenome:HGNC:19743 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 LGMD2N; MDDGA2; MDDGB2; MDDGC2; LGMDR14 Summary The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT1 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS).[provided by RefSeq, Oct 2008] Expression Broad expression in testis (RPKM 9.9), thyroid (RPKM 4.1) and 24 other tissues See more Orthologs mouse all
POMZP3, Official Symbol POMZP3provided by HGNC Official Full Name POM121 and ZP3 fusionprovided by HGNC Primary source HGNC:HGNC:9203 See related Ensembl:ENSG00000146707 MIM:600587; AllianceGenome:HGNC:9203 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 POM-ZP3 Summary This gene appears to have resulted from a fusion of DNA sequences derived from 2 distinct loci, specifically through the duplication of two internal exons from the POM121 gene and four 3' exons from the ZP3 gene. The 5' end of this gene is similar to the 5` coding region of the POM121 gene which encodes an integral nuclear pore membrane protein. However, the protein encoded by this gene lacks the nuclear pore localization motif. The 3' end of this gene is similar to the last 4 exons of the zona pellucida glycoprotein 3 (ZP3) gene and the encoded protein retains one zona pellucida domain. Multiple protein isoforms are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008] Annotation information Note: POM121 (Gene ID: 9883) and POMZP3 (Gene ID: 22832) share the POM121 symbol/alias in common. POM121 is sometimes used as an alternative name for POM121 and ZP3 fusion, which can be confused with the official symbol for POM121 transmembrane nucleoporin (POM121). [05 Jul 2018] Expression Ubiquitous expression in testis (RPKM 14.6), bone marrow (RPKM 6.9) and 25 other tissues See more Orthologs all
PON1, Official Symbol PON1provided by HGNC Official Full Name paraoxonase 1provided by HGNC Primary source HGNC:HGNC:9204 See related Ensembl:ENSG00000005421 MIM:168820; AllianceGenome:HGNC:9204 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 ESA; PON; MVCD5 Summary This gene encodes a member of the paraoxonase family of enzymes and exhibits lactonase and ester hydrolase activity. Following synthesis in the kidney and liver, the enzyme is secreted into the circulation, where it binds to high density lipoprotein (HDL) particles and hydrolyzes thiolactones and xenobiotics, including paraoxon, a metabolite of the insecticide parathion. Polymorphisms in this gene may be associated with coronary artery disease and diabetic retinopathy. The gene is found in a cluster of three related paraoxonase genes on chromosome 7. [provided by RefSeq, Aug 2017] Expression Restricted expression toward liver (RPKM 222.6) See more Orthologs mouse all
PON2, Official Symbol PON2provided by HGNC Official Full Name paraoxonase 2provided by HGNC Primary source HGNC:HGNC:9205 See related Ensembl:ENSG00000105854 MIM:602447; AllianceGenome:HGNC:9205 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 member of the paraoxonase gene family, which includes three known members located adjacent to each other on the long arm of chromosome 7. The encoded protein is ubiquitously expressed in human tissues, membrane-bound, and may act as a cellular antioxidant, protecting cells from oxidative stress. Hydrolytic activity against acylhomoserine lactones, important bacterial quorum-sensing mediators, suggests the encoded protein may also play a role in defense responses to pathogenic bacteria. Mutations in this gene may be associated with vascular disease and a number of quantitative phenotypes related to diabetes. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 81.0), adrenal (RPKM 61.6) and 23 other tissues See more Orthologs mouse all
PON3, Official Symbol PON3provided by HGNC Official Full Name paraoxonase 3provided by HGNC Primary source HGNC:HGNC:9206 See related Ensembl:ENSG00000105852 MIM:602720; AllianceGenome:HGNC:9206 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 is a member of the paraoxonase family and lies in a cluster on chromosome 7 with the other two family members. The encoded protein is secreted into the bloodstream and associates with high-density lipoprotein (HDL). The protein also rapidly hydrolyzes lactones and can inhibit the oxidation of low-density lipoprotein (LDL), a function that is believed to slow the initiation and progression of atherosclerosis. Alternatively spliced variants which encode different protein isoforms have been described; however, only one has been fully characterized. [provided by RefSeq, Jul 2008] Expression Biased expression in liver (RPKM 130.3) and ovary (RPKM 7.4) See more Orthologs mouse all
POP1, Official Symbol POP1provided by HGNC Official Full Name POP1 homolog, ribonuclease P/MRP subunitprovided by HGNC Primary source HGNC:HGNC:30129 See related Ensembl:ENSG00000104356 MIM:602486; AllianceGenome:HGNC:30129 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 ANXD2 Summary This gene encodes the protein subunit of two different small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is a ribonuclease that localizes to the nucleus and functions in pre-RNA processing. This protein is also an autoantigen in patients suffering from connective tissue diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009] Expression Ubiquitous expression in testis (RPKM 2.0), appendix (RPKM 1.8) and 25 other tissues See more Orthologs mouse all
POP4, Official Symbol POP4provided by HGNC Official Full Name POP4 homolog, ribonuclease P/MRP subunitprovided by HGNC Primary source HGNC:HGNC:30081 See related Ensembl:ENSG00000105171 MIM:606114; AllianceGenome:HGNC:30081 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 RPP29 Summary This gene encodes one of the protein subunits of the small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is localized to the nucleus and associates directly with the RNA component of these complexes. This protein is involved in processing of precursor RNAs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009] Expression Ubiquitous expression in testis (RPKM 7.0), lymph node (RPKM 6.7) and 25 other tissues See more Orthologs mouse all
POP5, Official Symbol POP5provided by HGNC Official Full Name POP5 homolog, ribonuclease P/MRP subunitprovided by HGNC Primary source HGNC:HGNC:17689 See related Ensembl:ENSG00000167272 MIM:609992; AllianceGenome:HGNC:17689 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 RPP2; RPP20; hPop5; HSPC004 Summary Enables ribonuclease P RNA binding activity. Contributes to ribonuclease P activity. Involved in tRNA 5'-leader removal. Located in nucleolus. Part of multimeric ribonuclease P complex and ribonuclease MRP complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 15.3), fat (RPKM 13.2) and 25 other tissues See more Orthologs mouse all
POP7, Official Symbol POP7provided by HGNC Official Full Name POP7 homolog, ribonuclease P/MRP subunitprovided by HGNC Primary source HGNC:HGNC:19949 See related Ensembl:ENSG00000172336 MIM:606113; AllianceGenome:HGNC:19949 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 RPP2; RPP20; 0610037N12Rik Summary Enables ribonuclease P RNA binding activity. Contributes to ribonuclease P activity. Involved in tRNA 5'-leader removal. Located in nucleolus. Part of multimeric ribonuclease P complex and ribonuclease MRP complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in prostate (RPKM 11.3), brain (RPKM 11.1) and 25 other tissues See more Orthologs mouse all
POPDC2, Official Symbol POPDC2provided by HGNC Official Full Name popeye domain containing 2provided by HGNC Primary source HGNC:HGNC:17648 See related Ensembl:ENSG00000121577 MIM:605823; AllianceGenome:HGNC:17648 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 POP2 Summary This gene encodes a member of the POP family of proteins which contain three putative transmembrane domains. This membrane associated protein is predominantly expressed in skeletal and cardiac muscle, and may have an important function in these tissues. [provided by RefSeq, Jul 2008] Expression Biased expression in heart (RPKM 152.4), urinary bladder (RPKM 12.2) and 2 other tissues See more Orthologs mouse all
POPDC3, Official Symbol POPDC3provided by HGNC Official Full Name popeye domain containing 3provided by HGNC Primary source HGNC:HGNC:17649 See related Ensembl:ENSG00000132429 MIM:605824; AllianceGenome:HGNC:17649 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 POP3; LGMDR26; bA355M14.1 Summary This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in these tissues during development. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2008] Expression Biased expression in heart (RPKM 4.3), testis (RPKM 1.6) and 6 other tissues See more Orthologs mouse all
POR, Official Symbol PORprovided by HGNC Official Full Name cytochrome p450 oxidoreductaseprovided by HGNC Primary source HGNC:HGNC:9208 See related Ensembl:ENSG00000127948 MIM:124015; AllianceGenome:HGNC:9208 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 CPR; CYPOR; P450R Summary This gene encodes an endoplasmic reticulum membrane oxidoreductase that is essential for multiple metabolic processes, including reactions catalyzed by cytochrome P450 proteins for metabolism of steroid hormones, drugs and xenobiotics. The encoded protein has a flavin adenine dinucleotide (FAD)-binding domain and a flavodoxin-like domain which bind two cofactors, FAD and FMN, that allow it to donate electrons directly from NADPH to all microsomal P450 enzymes. Mutations in this gene cause a complex set of disorders, including apparent combined P450C17 and P450C21 deficiency, amenorrhea and disordered steroidogenesis, congenital adrenal hyperplasia and Antley-Bixler syndrome, that resemble those caused by defects in steroid metabolizing enzymes such as aromatase, 21-hydroxylase, and 17 alpha-hydroxylase. [provided by RefSeq, Aug 2020] Expression Ubiquitous expression in liver (RPKM 99.7), adrenal (RPKM 78.6) and 25 other tissues See more Orthologs mouse all
PORCN, Official Symbol PORCNprovided by HGNC Official Full Name porcupine O-acyltransferaseprovided by HGNC Primary source HGNC:HGNC:17652 See related Ensembl:ENSG00000102312 MIM:300651; AllianceGenome:HGNC:17652 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 PPN; DHOF; FODH; MG61; PORC Summary This gene belongs to the evolutionarily conserved porcupine (Porc) gene family. Genes of the porcupine family encode endoplasmic reticulum proteins with multiple transmembrane domains. Porcupine proteins are involved in the processing of Wnt (wingless and int homologue) proteins. Disruption of this gene is associated with focal dermal hypoplasia, and the encoded protein has been implicated in cancer. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Aug 2013] Expression Ubiquitous expression in adrenal (RPKM 12.6), endometrium (RPKM 5.9) and 23 other tissues See more Orthologs mouse all
POSTN, Official Symbol POSTNprovided by HGNC Official Full Name periostinprovided by HGNC Primary source HGNC:HGNC:16953 See related Ensembl:ENSG00000133110 MIM:608777; AllianceGenome:HGNC:16953 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 PN; OSF2; OSF-2; PDLPOSTN Summary This gene encodes a secreted extracellular matrix protein that functions in tissue development and regeneration, including wound healing, and ventricular remodeling following myocardial infarction. The encoded protein binds to integrins to support adhesion and migration of epithelial cells. This protein plays a role in cancer stem cell maintenance and metastasis. Mice lacking this gene exhibit cardiac valve disease, and skeletal and dental defects. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015] Expression Broad expression in skin (RPKM 83.7), urinary bladder (RPKM 52.8) and 14 other tissues See more Orthologs mouse all
POT1, Official Symbol POT1provided by HGNC Official Full Name protection of telomeres 1provided by HGNC Primary source HGNC:HGNC:17284 See related Ensembl:ENSG00000128513 MIM:606478; AllianceGenome:HGNC:17284 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 GLM9; CMM10; HPOT1; CRMCC3; PFBMFT8 Summary This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 8.1), thyroid (RPKM 7.2) and 25 other tissues See more Orthologs mouse all
POT1-AS1, Official Symbol POT1-AS1provided by HGNC Official Full Name POT1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:49459 See related Ensembl:ENSG00000224897 AllianceGenome:HGNC:49459 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
POTEA, Official Symbol POTEAprovided by HGNC Official Full Name POTE ankyrin domain family member Aprovided by HGNC Primary source HGNC:HGNC:33893 See related Ensembl:ENSG00000188877 MIM:608915; AllianceGenome:HGNC:33893 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 A26A1; POTE8; POTE-8; CT104.3 Expression Low expression observed in reference dataset See more Orthologs all
POTEB, Official Symbol POTEBprovided by HGNC Official Full Name POTE ankyrin domain family member Bprovided by HGNC Primary source HGNC:HGNC:33734 See related Ensembl:ENSG00000233917 MIM:608912; AllianceGenome:HGNC:33734 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 A26B1; POTE15; POTEB2; CT104.5; POTE-15 Expression Restricted expression toward testis (RPKM 5.8) See more
POTEB2, Official Symbol POTEB2provided by HGNC Official Full Name POTE ankyrin domain family member B2provided by HGNC Primary source HGNC:HGNC:48327 See related Ensembl:ENSG00000230031 AllianceGenome:HGNC:48327 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 POTEB; POTE-15 Expression Restricted expression toward testis (RPKM 6.0) See more
POTEB3, Official Symbol POTEB3provided by HGNC Official Full Name POTE ankyrin domain family member B3provided by HGNC Primary source HGNC:HGNC:51240 See related Ensembl:ENSG00000278522 AllianceGenome:HGNC:51240 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 POTEB; POTE-15 Expression Restricted expression toward testis (RPKM 3.9) See more
POTEC, Official Symbol POTECprovided by HGNC Official Full Name POTE ankyrin domain family member Cprovided by HGNC Primary source HGNC:HGNC:33894 See related Ensembl:ENSG00000183206 AllianceGenome:HGNC:33894 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 A26B2; POTE18; CT104.6; POTE-18 Expression Restricted expression toward testis (RPKM 4.1) See more Orthologs all
POTED, Official Symbol POTEDprovided by HGNC Official Full Name POTE ankyrin domain family member Dprovided by HGNC Primary source HGNC:HGNC:23822 See related Ensembl:ENSG00000166351 MIM:607549; AllianceGenome:HGNC:23822 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 POTE; A26B3; POTE21; ANKRD21; CT104.1; POTE-21 Summary Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 4.0) See more Orthologs all
POTEE, Official Symbol POTEEprovided by HGNC Official Full Name POTE ankyrin domain family member Eprovided by HGNC Primary source HGNC:HGNC:33895 See related Ensembl:ENSG00000188219 MIM:608914; AllianceGenome:HGNC:33895 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 A26C1; POTE2; A26C1A; POTE-2; CT104.2; POTE2gamma Summary Involved in retina homeostasis and substantia nigra development. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in appendix (RPKM 3.7), lymph node (RPKM 3.5) and 24 other tissues See more Orthologs all
POTEF, Official Symbol POTEFprovided by HGNC Official Full Name POTE ankyrin domain family member Fprovided by HGNC Primary source HGNC:HGNC:33905 See related Ensembl:ENSG00000196604 AllianceGenome:HGNC:33905 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 ACTB; A26C1B; POTEACTIN; POTE2alpha Summary Involved in retina homeostasis. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 2.4), prostate (RPKM 1.0) and 12 other tissues See more Orthologs all
POTEG, Official Symbol POTEGprovided by HGNC Official Full Name POTE ankyrin domain family member Gprovided by HGNC Primary source HGNC:HGNC:33896 See related Ensembl:ENSG00000187537 MIM:608916; AllianceGenome:HGNC:33896 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 A26C2; ACTBL1; POTE14; POTE22; CT104.4; POTE-14; POTE14alpha Expression Restricted expression toward prostate (RPKM 10.5) See more
POTEH, Official Symbol POTEHprovided by HGNC Official Full Name POTE ankyrin domain family member Hprovided by HGNC Primary source HGNC:HGNC:133 See related Ensembl:ENSG00000198062 MIM:608913; AllianceGenome:HGNC:133 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 A26C3; ACTBL1; POTE22; CT104.7 Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward prostate (RPKM 11.9) See more Orthologs all
POTEI, Official Symbol POTEIprovided by HGNC Official Full Name POTE ankyrin domain family member Iprovided by HGNC Primary source HGNC:HGNC:37093 See related Ensembl:ENSG00000196834 AllianceGenome:HGNC:37093 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 POTE2beta Summary Involved in retina homeostasis. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 2.9), prostate (RPKM 1.4) and 3 other tissues See more
POTEJ, Official Symbol POTEJprovided by HGNC Official Full Name POTE ankyrin domain family member Jprovided by HGNC Primary source HGNC:HGNC:37094 See related Ensembl:ENSG00000222038 AllianceGenome:HGNC:37094 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 POTE2beta Summary Involved in retina homeostasis. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 3.1), prostate (RPKM 1.6) and 3 other tissues See more
POTEM, Official Symbol POTEMprovided by HGNC Official Full Name POTE ankyrin domain family member Mprovided by HGNC Primary source HGNC:HGNC:37096 See related Ensembl:ENSG00000222036 AllianceGenome:HGNC:37096 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 ACT; P704P; POTE14beta Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in prostate (RPKM 10.9) and testis (RPKM 2.3) See more
POU1F1, Official Symbol POU1F1provided by HGNC Official Full Name POU class 1 homeobox 1provided by HGNC Primary source HGNC:HGNC:9210 See related Ensembl:ENSG00000064835 MIM:173110; AllianceGenome:HGNC:9210 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 PIT1; CPHD1; GHF-1; Pit-1; POU1F1a Summary This gene encodes a member of the POU family of transcription factors that regulate mammalian development. The protein regulates expression of several genes involved in pituitary development and hormone expression. Mutations in this genes result in combined pituitary hormone deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
POU2AF1, Official Symbol POU2AF1provided by HGNC Official Full Name POU class 2 homeobox associating factor 1provided by HGNC Primary source HGNC:HGNC:9211 See related Ensembl:ENSG00000110777 MIM:601206; AllianceGenome:HGNC:9211 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 BOB1; OBF1; OCAB; OBF-1 Summary Enables transcription coactivator activity. Involved in positive regulation of transcription by RNA polymerase II. Part of RNA polymerase II transcription regulator complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in lymph node (RPKM 29.3), appendix (RPKM 16.6) and 9 other tissues See more Orthologs mouse all
POU2F1, Official Symbol POU2F1provided by HGNC Official Full Name POU class 2 homeobox 1provided by HGNC Primary source HGNC:HGNC:9212 See related Ensembl:ENSG00000143190 MIM:164175; AllianceGenome:HGNC:9212 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 OCT1; OTF1; Oct1Z; oct-1B Summary The OCT1 transcription factor was among the first identified members of the POU transcription factor family (summarized by Sturm et al., 1993 [PubMed 8314572]). Members of this family contain the POU domain, a 160-amino acid region necessary for DNA binding to the octameric sequence ATGCAAAT.[supplied by OMIM, Jul 2010] Expression Ubiquitous expression in testis (RPKM 2.5), brain (RPKM 2.3) and 25 other tissues See more Orthologs mouse all
POU2F1-DT, Official Symbol POU2F1-DTprovided by HGNC Official Full Name POU2F1 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:55222 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information not in current annotation release
POU2F2, Official Symbol POU2F2provided by HGNC Official Full Name POU class 2 homeobox 2provided by HGNC Primary source HGNC:HGNC:9213 See related Ensembl:ENSG00000028277 MIM:164176; AllianceGenome:HGNC:9213 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 OCT2; OTF2; Oct-2 Summary The protein encoded by this gene is a homeobox-containing transcription factor of the POU domain family. The encoded protein binds the octamer sequence 5'-ATTTGCAT-3', a common transcription factor binding site in immunoglobulin gene promoters. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Expression Broad expression in lymph node (RPKM 11.8), spleen (RPKM 7.4) and 14 other tissues See more Orthologs mouse all
POU2F3, Official Symbol POU2F3provided by HGNC Official Full Name POU class 2 homeobox 3provided by HGNC Primary source HGNC:HGNC:19864 See related Ensembl:ENSG00000137709 MIM:607394; AllianceGenome:HGNC:19864 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 PLA1; OCT11; PLA-1; Epoc-1; OCT-11; OTF-11; Skn-1a Summary This gene encodes a member of the POU domain family of transcription factors. POU domain transcription factors bind to a specific octamer DNA motif and regulate cell type-specific differentiation pathways. The encoded protein is primarily expressed in the epidermis, and plays a critical role in keratinocyte proliferation and differentiation. The encoded protein is also a candidate tumor suppressor protein, and aberrant promoter methylation of this gene may play a role in cervical cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011] Expression Biased expression in skin (RPKM 16.5) and lung (RPKM 0.4) See more Orthologs mouse all
POU3F1, Official Symbol POU3F1provided by HGNC Official Full Name POU class 3 homeobox 1provided by HGNC Primary source HGNC:HGNC:9214 See related Ensembl:ENSG00000185668 MIM:602479; AllianceGenome:HGNC:9214 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 OCT6; OTF6; SCIP Summary Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II; positive regulation of gene expression; and positive regulation of transcription, DNA-templated. Predicted to act upstream of or within keratinocyte differentiation; nervous system development; and positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
POU3F2, Official Symbol POU3F2provided by HGNC Official Full Name POU class 3 homeobox 2provided by HGNC Primary source HGNC:HGNC:9215 See related Ensembl:ENSG00000184486 MIM:600494; AllianceGenome:HGNC:9215 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 BRN2; OCT7; OTF7; OTF-7; POUF3; brn-2; oct-7; N-Oct3 Summary This gene encodes a member of the POU-III class of neural transcription factors. The encoded protein is involved in neuronal differentiation and enhances the activation of corticotropin-releasing hormone regulated genes. Overexpression of this protein is associated with an increase in the proliferation of melanoma cells. [provided by RefSeq, Mar 2012] Orthologs mouse all
POU3F3, Official Symbol POU3F3provided by HGNC Official Full Name POU class 3 homeobox 3provided by HGNC Primary source HGNC:HGNC:9216 See related Ensembl:ENSG00000198914 MIM:602480; AllianceGenome:HGNC:9216 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 BRN1; OTF8; oct-8; SNIBFIS; brain-1 Summary This gene encodes a POU-domain containing protein that functions as a transcription factor. The encoded protein recognizes an octamer sequence in the DNA of target genes. This protein may play a role in development of the nervous system. [provided by RefSeq, Apr 2015] Orthologs mouse all
POU3F4, Official Symbol POU3F4provided by HGNC Official Full Name POU class 3 homeobox 4provided by HGNC Primary source HGNC:HGNC:9217 See related Ensembl:ENSG00000196767 MIM:300039; AllianceGenome:HGNC:9217 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 BRN4; DFN3; OTF9; BRN-4; DFNX2; OCT-9; OTF-9; BRAIN-4 Summary This gene encodes a member of the POU-III class of neural transcription factors. This family member plays a role in inner ear development. The protein is thought to be involved in the mediation of epigenetic signals which induce striatal neuron-precursor differentiation. Mutations in this gene are associated with X chromosome-linked nonsyndromic mixed deafness. [provided by RefSeq, Dec 2012] Orthologs mouse all
POU4F1, Official Symbol POU4F1provided by HGNC Official Full Name POU class 4 homeobox 1provided by HGNC Primary source HGNC:HGNC:9218 See related Ensembl:ENSG00000152192 MIM:601632; AllianceGenome:HGNC:9218 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 BRN3A; RDC-1; ATITHS; Oct-T1; brn-3A Summary This gene encodes a member of the POU-IV class of neural transcription factors. This protein is expressed in a subset of retinal ganglion cells and may be involved in the developing sensory nervous system. This protein may also promote the growth of cervical tumors. A translocation of this gene is associated with some adult acute myeloid leukemias. [provided by RefSeq, Mar 2012] Expression Low expression observed in reference dataset See more Orthologs mouse all
POU4F2, Official Symbol POU4F2provided by HGNC Official Full Name POU class 4 homeobox 2provided by HGNC Primary source HGNC:HGNC:9219 See related Ensembl:ENSG00000151615 MIM:113725; AllianceGenome:HGNC:9219 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 BRN3B; BRN3.2; Brn-3b Summary The protein encoded by this gene is a member of the POU-domain transcription factor family and may be involved in maintaining visual system neurons in the retina. The level of the encoded protein is also elevated in a majority of breast cancers, resulting in accelerated tumor growth. [provided by RefSeq, Sep 2011] Expression Low expression observed in reference dataset See more Orthologs mouse all
POU4F3, Official Symbol POU4F3provided by HGNC Official Full Name POU class 4 homeobox 3provided by HGNC Primary source HGNC:HGNC:9220 See related Ensembl:ENSG00000091010 MIM:602460; AllianceGenome:HGNC:9220 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 BRN3C; DFNA15; DFNA42; DFNA52 Summary This gene encodes a member of the POU-domain family of transcription factors. POU-domain proteins have been observed to play important roles in control of cell identity in several systems. This protein is found in the retina and may play a role in determining or maintaining the identities of a small subset of visual system neurons. Defects in this gene are the cause of non-syndromic sensorineural deafness autosomal dominant type 15. [provided by RefSeq, Mar 2009] Expression Low expression observed in reference dataset See more Orthologs mouse all
POU5F1, Official Symbol POU5F1provided by HGNC Official Full Name POU class 5 homeobox 1provided by HGNC Primary source HGNC:HGNC:9221 See related Ensembl:ENSG00000204531 MIM:164177; AllianceGenome:HGNC:9221 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 OCT3; OCT4; OTF3; OTF4; OTF-3; Oct-3; Oct-4; Oct3/4 Summary This gene encodes a transcription factor containing a POU homeodomain that plays a key role in embryonic development and stem cell pluripotency. Aberrant expression of this gene in adult tissues is associated with tumorigenesis. This gene can participate in a translocation with the Ewing's sarcoma gene on chromosome 21, which also leads to tumor formation. Alternative splicing, as well as usage of alternative AUG and non-AUG translation initiation codons, results in multiple isoforms. One of the AUG start codons is polymorphic in human populations. Related pseudogenes have been identified on chromosomes 1, 3, 8, 10, and 12. [provided by RefSeq, Oct 2013] Expression Broad expression in lung (RPKM 1.3), small intestine (RPKM 1.2) and 21 other tissues See more Orthologs mouse all
POU5F1B, Official Symbol POU5F1Bprovided by HGNC Official Full Name POU class 5 homeobox 1Bprovided by HGNC Primary source HGNC:HGNC:9223 See related Ensembl:ENSG00000212993 MIM:615739; AllianceGenome:HGNC:9223 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 OTF3C; OTF3P1; OCT4PG1; OCT4-PG1; POU5F1P1; POU5F1P4; POU5FLC8; POU5FLC20 Summary This intronless gene was thought to be a transcribed pseudogene of POU class 5 homeobox 1, however, it has been reported that this gene can encode a functional protein. The encoded protein is nearly the same length as and highly similar to the POU class 5 homeobox 1 transcription factor, has been shown to be a weak transcriptional activator and may play a role in carcinogenesis and eye development. [provided by RefSeq, Apr 2009] Annotation information Note: This gene is named as a pseudogene but may be a protein coding gene as a transcript has been shown to encode a protein which can function as a transcription factor (PMID: 18949397). [03 Mar 2009] Orthologs all
POU5F1P2, Official Symbol POU5F1P2provided by HGNC Official Full Name POU class 5 homeobox 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:33309 See related AllianceGenome:HGNC:33309 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
POU5F1P3, Official Symbol POU5F1P3provided by HGNC Official Full Name POU class 5 homeobox 1 pseudogene 3provided by HGNC Primary source HGNC:HGNC:9222 See related Ensembl:ENSG00000235602 AllianceGenome:HGNC:9222 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 OCT3; OCT4; OTF3; OTF-3; OTF3L; Oct-3; Oct-4; POU5F1; POU5F1L; OCT4-pg3; POU5FLC12
POU5F1P4, Official Symbol POU5F1P4provided by HGNC Official Full Name POU class 5 homeobox 1 pseudogene 4provided by HGNC Primary source HGNC:HGNC:33310 See related Ensembl:ENSG00000237872 AllianceGenome:HGNC:33310 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 OCT3; OCT4; OTF3; OTF-3; Oct-3; Oct-4; POU5F1; Oct4-pg4; POU5FLC1
POU5F1P6, Official Symbol POU5F1P6provided by HGNC Official Full Name POU class 5 homeobox 1 pseudogene 6provided by HGNC Primary source HGNC:HGNC:33312 See related Ensembl:ENSG00000242551 AllianceGenome:HGNC:33312 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
POU5F2, Official Symbol POU5F2provided by HGNC Official Full Name POU domain class 5, transcription factor 2provided by HGNC Primary source HGNC:HGNC:26367 See related Ensembl:ENSG00000248483 AllianceGenome:HGNC:26367 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 SPRM-1 Summary Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. Predicted to be part of chromatin. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
POU6F1, Official Symbol POU6F1provided by HGNC Official Full Name POU class 6 homeobox 1provided by HGNC Primary source HGNC:HGNC:9224 See related Ensembl:ENSG00000184271 MIM:618043; AllianceGenome:HGNC:9224 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 BRN5; MPOU; TCFB1 Summary Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in actin cytoskeleton and nuclear body. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 4.7), ovary (RPKM 3.6) and 23 other tissues See more Orthologs mouse all
POU6F2, Official Symbol POU6F2provided by HGNC Official Full Name POU class 6 homeobox 2provided by HGNC Primary source HGNC:HGNC:21694 See related Ensembl:ENSG00000106536 MIM:609062; AllianceGenome:HGNC:21694 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 WT5; WTSL; RPF-1 Summary This gene encodes a member of the POU protein family characterized by the presence of a bipartite DNA binding domain, consisting of a POU-specific domain and a homeodomain, separated by a variable polylinker. The DNA binding domain may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner. The POU family members are transcriptional regulators, many of which are known to control cell type-specific differentiation pathways. This gene is a tumor suppressor involved in Wilms tumor (WT) predisposition. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Oct 2009] Expression Low expression observed in reference dataset See more Orthologs mouse all
POU6F2-AS1, Official Symbol POU6F2-AS1provided by HGNC Official Full Name POU6F2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40979 See related Ensembl:ENSG00000224122 AllianceGenome:HGNC:40979 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in liver (RPKM 1.3), testis (RPKM 0.3) and 2 other tissues See more
PP12613, Gene symbol PP12613 Gene description uncharacterized LOC100192379 See related Ensembl:ENSG00000226757 Gene type ncRNA RefSeq status PREDICTED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PP2D1, Official Symbol PP2D1provided by HGNC Official Full Name protein phosphatase 2C like domain containing 1provided by HGNC Primary source HGNC:HGNC:28406 See related Ensembl:ENSG00000183977 AllianceGenome:HGNC:28406 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 C3orf48 Summary Predicted to enable protein serine/threonine phosphatase activity. Predicted to be involved in protein dephosphorylation. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 9.5), duodenum (RPKM 5.3) and 25 other tissues See more Orthologs mouse all
PPA1, Official Symbol PPA1provided by HGNC Official Full Name inorganic pyrophosphatase 1provided by HGNC Primary source HGNC:HGNC:9226 See related Ensembl:ENSG00000180817 MIM:179030; AllianceGenome:HGNC:9226 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 PP; PP1; IOPPP; HEL-S-66p; SID6-8061 Summary The protein encoded by this gene is a member of the inorganic pyrophosphatase (PPase) family. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells. Studies of a similar protein in bovine suggested a cytoplasmic localization of this enzyme. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in adrenal (RPKM 81.3), colon (RPKM 70.8) and 25 other tissues See more Orthologs mouse all