psui3905/ncbi_genes_summary huggingface dataset:
PGAP3, Official Symbol PGAP3provided by HGNC Official Full Name post-GPI attachment to proteins phospholipase 3provided by HGNC Primary source HGNC:HGNC:23719 See related Ensembl:ENSG00000161395 MIM:611801; AllianceGenome:HGNC:23719 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 CAB2; PERLD1; PP1498; hCOS16; AGLA546 Summary This gene encodes a glycosylphosphatidylinositol (GPI)-specific phospholipase that primarily localizes to the Golgi apparatus. This ubiquitously expressed gene is predicted to encode a seven-transmembrane protein that removes unsaturated fatty acids from the sn-2 position of GPI. The remodeling of the constituent fatty acids on GPI is thought to be important for the proper association between GPI-anchored proteins and lipid rafts. The tethering of proteins to plasma membranes via posttranslational GPI-anchoring is thought to play a role in protein sorting and trafficking. Mutations in this gene cause an autosomal recessive form of neurologic hyperphosphatasia with cognitive disability (HPMRS4). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017] Expression Ubiquitous expression in thyroid (RPKM 14.6), skin (RPKM 9.4) and 25 other tissues See more Orthologs mouse all
PGAP4, Official Symbol PGAP4provided by HGNC Official Full Name post-GPI attachment to proteins GalNAc transferase 4provided by HGNC Primary source HGNC:HGNC:28180 See related Ensembl:ENSG00000165152 MIM:620264; AllianceGenome:HGNC:28180 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 TMEM246; C9orf125 Summary Enables glycosyltransferase activity. Involved in GPI anchor biosynthetic process. Located in Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 25.2), heart (RPKM 14.2) and 20 other tissues See more Orthologs mouse all
PGAP6, Official Symbol PGAP6provided by HGNC Official Full Name post-GPI attachment to proteins 6provided by HGNC Primary source HGNC:HGNC:17205 See related Ensembl:ENSG00000129925 MIM:619342; AllianceGenome:HGNC:17205 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 M83; TMEM6; TMEM8; TMEM8A; GPI-PLA2 Summary Predicted to enable phospholipase A2 activity. Located in extracellular exosome and lysosomal membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 24.1), placenta (RPKM 22.5) and 25 other tissues See more Orthologs mouse all
PGBD1, Official Symbol PGBD1provided by HGNC Official Full Name piggyBac transposable element derived 1provided by HGNC Primary source HGNC:HGNC:19398 See related Ensembl:ENSG00000137338 AllianceGenome:HGNC:19398 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 SCAND4; HUCEP-4; dJ874C20.4 Summary The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. This gene product is specifically expressed in the brain, however, its exact function is not known. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, May 2010] Expression Ubiquitous expression in brain (RPKM 2.1), endometrium (RPKM 1.7) and 25 other tissues See more Orthologs mouse all
PGBD2, Official Symbol PGBD2provided by HGNC Official Full Name piggyBac transposable element derived 2provided by HGNC Primary source HGNC:HGNC:19399 See related Ensembl:ENSG00000185220 AllianceGenome:HGNC:19399 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 The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. The exact function of this gene is not known. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 3.5), thyroid (RPKM 2.7) and 25 other tissues See more Orthologs all
PGBD4, Official Symbol PGBD4provided by HGNC Official Full Name piggyBac transposable element derived 4provided by HGNC Primary source HGNC:HGNC:19401 See related Ensembl:ENSG00000182405 AllianceGenome:HGNC:19401 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 The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. [provided by RefSeq, Jul 2008] Orthologs all
PGBD4P3, Official Symbol PGBD4P3provided by HGNC Official Full Name piggyBac transposable element derived 4 pseudogene 3provided by HGNC Primary source HGNC:HGNC:44068 See related AllianceGenome:HGNC:44068 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PGBD4P4, Official Symbol PGBD4P4provided by HGNC Official Full Name piggyBac transposable element derived 4 pseudogene 4provided by HGNC Primary source HGNC:HGNC:44076 See related Ensembl:ENSG00000248877 AllianceGenome:HGNC:44076 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PGBD4P5, Official Symbol PGBD4P5provided by HGNC Official Full Name piggyBac transposable element derived 4 pseudogene 5provided by HGNC Primary source HGNC:HGNC:44070 See related AllianceGenome:HGNC:44070 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PGBD5, Official Symbol PGBD5provided by HGNC Official Full Name piggyBac transposable element derived 5provided by HGNC Primary source HGNC:HGNC:19405 See related Ensembl:ENSG00000177614 MIM:616791; AllianceGenome:HGNC:19405 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 piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. [provided by RefSeq, May 2010] Expression Biased expression in brain (RPKM 13.1), adrenal (RPKM 4.4) and 9 other tissues See more Orthologs mouse all
PGC, Official Symbol PGCprovided by HGNC Official Full Name progastricsinprovided by HGNC Primary source HGNC:HGNC:8890 See related Ensembl:ENSG00000096088 MIM:169740; AllianceGenome:HGNC:8890 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 PEPC; PGII Summary This gene encodes an aspartic proteinase that belongs to the peptidase family A1. The encoded protein is a digestive enzyme that is produced in the stomach and constitutes a major component of the gastric mucosa. This protein is also secreted into the serum. This protein is synthesized as an inactive zymogen that includes a highly basic prosegment. This enzyme is converted into its active mature form at low pH by sequential cleavage of the prosegment that is carried out by the enzyme itself. Polymorphisms in this gene are associated with susceptibility to gastric cancers. Serum levels of this enzyme are used as a biomarker for certain gastric diseases including Helicobacter pylori related gastritis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 1. [provided by RefSeq, Oct 2009] Expression Restricted expression toward stomach (RPKM 7385.5) See more Orthologs mouse all
PGD, Official Symbol PGDprovided by HGNC Official Full Name phosphogluconate dehydrogenaseprovided by HGNC Primary source HGNC:HGNC:8891 See related Ensembl:ENSG00000142657 MIM:172200; AllianceGenome:HGNC:8891 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 6PGD Summary 6-phosphogluconate dehydrogenase is the second dehydrogenase in the pentose phosphate shunt. Deficiency of this enzyme is generally asymptomatic, and the inheritance of this disorder is autosomal dominant. Hemolysis results from combined deficiency of 6-phosphogluconate dehydrogenase and 6-phosphogluconolactonase suggesting a synergism of the two enzymopathies. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015] Expression Broad expression in esophagus (RPKM 163.6), bone marrow (RPKM 118.1) and 22 other tissues See more Orthologs mouse all
PGDP1, Official Symbol PGDP1provided by HGNC Official Full Name phosphogluconate dehydrogenase pseudogene 1provided by HGNC Primary source HGNC:HGNC:8892 See related Ensembl:ENSG00000265273 AllianceGenome:HGNC:8892 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PGDL1
PGF, Official Symbol PGFprovided by HGNC Official Full Name placental growth factorprovided by HGNC Primary source HGNC:HGNC:8893 See related Ensembl:ENSG00000119630 MIM:601121; AllianceGenome:HGNC:8893 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 PGFL; PIGF; PLGF; PlGF-2; D12S1900; SHGC-10760 Summary Enables growth factor activity. Involved in positive regulation of cell population proliferation. Predicted to be located in extracellular region. Predicted to be active in extracellular space. Implicated in several diseases, including brain ischemia; diabetic neuropathy; glioblastoma; myocardial infarction; and pancreatic endocrine carcinoma. Biomarker of several diseases, including artery disease (multiple); autoimmune disease of musculoskeletal system (multiple); epilepsy (multiple); limited scleroderma; and pancreatic endocrine carcinoma. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Note: PGF (Gene ID: 5228) and PIGF (Gene ID: 5281) share the PIGF symbol/alias in common. PIGF is a widely used alternative gene symbol for placental growth factor (PGF), which can be confused with the official symbol for phosphatidylinositol glycan anchor biosynthesis class F (PIGF). [06 Jul 2018] Expression Biased expression in placenta (RPKM 36.3), thyroid (RPKM 24.1) and 13 other tissues See more Orthologs mouse all
PGGHG, Official Symbol PGGHGprovided by HGNC Official Full Name protein-glucosylgalactosylhydroxylysine glucosidaseprovided by HGNC Primary source HGNC:HGNC:26210 See related Ensembl:ENSG00000142102 MIM:617032; AllianceGenome:HGNC:26210 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 ATHL1 Summary Enables protein-glucosylgalactosylhydroxylysine glucosidase activity. Involved in carbohydrate metabolic process. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in lymph node (RPKM 33.9), pancreas (RPKM 29.5) and 24 other tissues See more Orthologs mouse all
PGGT1B, Official Symbol PGGT1Bprovided by HGNC Official Full Name protein geranylgeranyltransferase type I subunit betaprovided by HGNC Primary source HGNC:HGNC:8895 See related Ensembl:ENSG00000164219 MIM:602031; AllianceGenome:HGNC:8895 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 BGGI; GGTI Summary Protein geranylgeranyltransferase type I (GGTase-I) transfers a geranylgeranyl group to the cysteine residue of candidate proteins containing a C-terminal CAAX motif in which 'A' is an aliphatic amino acid and 'X' is leucine (summarized by Zhang et al., 1994 [PubMed 8106351]). The enzyme is composed of a 48-kD alpha subunit (FNTA; MIM 134635) and a 43-kD beta subunit, encoded by the PGGT1B gene. The FNTA gene encodes the alpha subunit for both GGTase-I and the related enzyme farnesyltransferase.[supplied by OMIM, Mar 2010] Expression Ubiquitous expression in colon (RPKM 3.0), spleen (RPKM 2.3) and 25 other tissues See more Orthologs mouse all
PGGT1BP2, Official Symbol PGGT1BP2provided by HGNC Official Full Name protein geranylgeranyltransferase type I subunit beta pseudogene 2provided by HGNC Primary source HGNC:HGNC:45112 See related AllianceGenome:HGNC:45112 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PGK1, Official Symbol PGK1provided by HGNC Official Full Name phosphoglycerate kinase 1provided by HGNC Primary source HGNC:HGNC:8896 See related Ensembl:ENSG00000102144 MIM:311800; AllianceGenome:HGNC:8896 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 PGKA; MIG10; HEL-S-68p Summary The protein encoded by this gene is a glycolytic enzyme that catalyzes the conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate. The encoded protein may also act as a cofactor for polymerase alpha. Additionally, this protein is secreted by tumor cells where it participates in angiogenesis by functioning to reduce disulfide bonds in the serine protease, plasmin, which consequently leads to the release of the tumor blood vessel inhibitor angiostatin. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Deficiency of the enzyme is associated with a wide range of clinical phenotypes hemolytic anemia and neurological impairment. Pseudogenes of this gene have been defined on chromosomes 19, 21 and the X chromosome. [provided by RefSeq, Jan 2014] Expression Ubiquitous expression in kidney (RPKM 128.3), heart (RPKM 120.1) and 25 other tissues See more Orthologs mouse all
PGK1P2, Official Symbol PGK1P2provided by HGNC Official Full Name phosphoglycerate kinase 1, pseudogene 2provided by HGNC Primary source HGNC:HGNC:8899 See related Ensembl:ENSG00000213290 AllianceGenome:HGNC:8899 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PGK2
PGK2, Official Symbol PGK2provided by HGNC Official Full Name phosphoglycerate kinase 2provided by HGNC Primary source HGNC:HGNC:8898 See related Ensembl:ENSG00000170950 MIM:172270; AllianceGenome:HGNC:8898 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 PGKB; PGKPS; HEL-S-272; dJ417L20.2 Summary This gene is intronless, arose via retrotransposition of the phosphoglycerate kinase 1 gene, and is expressed specifically in the testis. Initially assumed to be a pseudogene, the encoded protein is actually a functional phosphoglycerate kinase that catalyzes the reversible conversion of 1,3-bisphosphoglycerate to 3-phosphoglycerate, during the Embden-Meyerhof-Parnas pathway of glycolysis, in the later stages of spermatogenesis.[provided by RefSeq, May 2010] Orthologs all
PGLS, Official Symbol PGLSprovided by HGNC Official Full Name 6-phosphogluconolactonaseprovided by HGNC Primary source HGNC:HGNC:8903 See related Ensembl:ENSG00000130313 MIM:604951; AllianceGenome:HGNC:8903 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 6PGL; HEL-S-304 Summary Enables 6-phosphogluconolactonase activity. Involved in pentose-phosphate shunt. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 10.2), colon (RPKM 9.1) and 25 other tissues See more Orthologs mouse all
PGLS-DT, Official Symbol PGLS-DTprovided by HGNC Official Full Name PGLS divergent transcriptprovided by HGNC Primary source HGNC:HGNC:55274 See related Ensembl:ENSG00000269439 AllianceGenome:HGNC:55274 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PGLYRP1, Official Symbol PGLYRP1provided by HGNC Official Full Name peptidoglycan recognition protein 1provided by HGNC Primary source HGNC:HGNC:8904 See related Ensembl:ENSG00000008438 MIM:604963; AllianceGenome:HGNC:8904 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 PGRP; TAG7; PGRPS; PGLYRP; PGRP-S; TNFSF3L Summary Enables peptidoglycan binding activity and peptidoglycan immune receptor activity. Involved in antimicrobial humoral immune response mediated by antimicrobial peptide; killing of cells of other organism; and response to bacterium. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward bone marrow (RPKM 135.5) See more Orthologs mouse all
PGLYRP2, Official Symbol PGLYRP2provided by HGNC Official Full Name peptidoglycan recognition protein 2provided by HGNC Primary source HGNC:HGNC:30013 See related Ensembl:ENSG00000161031 MIM:608199; AllianceGenome:HGNC:30013 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 tagL; PGRPL; PGRP-L; PGLYRPL; HMFT0141; TAGL-like; tagl-beta; tagL-alpha Summary This gene encodes a peptidoglycan recognition protein, which belongs to the N-acetylmuramoyl-L-alanine amidase 2 family. This protein hydrolyzes the link between N-acetylmuramoyl residues and L-amino acid residues in bacterial cell wall glycopeptides, and thus may play a scavenger role by digesting biologically active peptidoglycan into biologically inactive fragments. [provided by RefSeq, Sep 2011] Expression Restricted expression toward liver (RPKM 52.9) See more Orthologs mouse all
PGLYRP3, Official Symbol PGLYRP3provided by HGNC Official Full Name peptidoglycan recognition protein 3provided by HGNC Primary source HGNC:HGNC:30014 See related Ensembl:ENSG00000159527 MIM:608197; AllianceGenome:HGNC:30014 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 PGRPIA; PGRP-Ialpha; PGLYRPIalpha Summary This gene encodes a peptidoglycan recognition protein, which belongs to the N-acetylmuramoyl-L-alanine amidase 2 family. These proteins are part of the innate immune system and recognize peptidoglycan, a ubiquitous component of bacterial cell walls. This antimicrobial protein binds to murein peptidoglycans of Gram-positive bacteria. [provided by RefSeq, Oct 2014] Expression Biased expression in skin (RPKM 19.2) and esophagus (RPKM 11.8) See more Orthologs all
PGLYRP4, Official Symbol PGLYRP4provided by HGNC Official Full Name peptidoglycan recognition protein 4provided by HGNC Primary source HGNC:HGNC:30015 See related Ensembl:ENSG00000163218 MIM:608198; AllianceGenome:HGNC:30015 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 PGRPIB; SBBI67; PGRP-Ibeta; PGLYRPIbeta Summary Summary: This gene encodes a peptidoglycan recognition protein, which belongs to the N-acetylmuramoyl-L-alanine amidase 2 family. These proteins are part of the innate immune system and recognize peptidoglycan, a ubiquitous component of bacterial cell walls. This antimicrobial protein binds to murein peptidoglycans of Gram-positive bacteria. [provided by RefSeq, Oct 2014] Expression Biased expression in skin (RPKM 2.9) and esophagus (RPKM 1.0) See more Orthologs mouse all
PGM1, Official Symbol PGM1provided by HGNC Official Full Name phosphoglucomutase 1provided by HGNC Primary source HGNC:HGNC:8905 See related Ensembl:ENSG00000079739 MIM:171900; AllianceGenome:HGNC:8905 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 CDG1T; GSD14 Summary The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 positions of glucose. In most cell types, this PGM isozyme is predominant, representing about 90% of total PGM activity. In red cells, PGM2 is a major isozyme. This gene is highly polymorphic. Mutations in this gene cause glycogen storage disease type 14. Alternativley spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Mar 2010] Expression Ubiquitous expression in fat (RPKM 59.8), liver (RPKM 51.7) and 25 other tissues See more Orthologs mouse all
PGM2, Official Symbol PGM2provided by HGNC Official Full Name phosphoglucomutase 2provided by HGNC Primary source HGNC:HGNC:8906 See related Ensembl:ENSG00000169299 MIM:172000; AllianceGenome:HGNC:8906 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 MSTP006 Summary Enables phosphopentomutase activity. Predicted to be involved in carbohydrate metabolic process and deoxyribose phosphate catabolic process. Predicted to act upstream of or within glucose metabolic process. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in esophagus (RPKM 28.0), urinary bladder (RPKM 13.5) and 23 other tissues See more Orthologs mouse all
PGM2L1, Official Symbol PGM2L1provided by HGNC Official Full Name phosphoglucomutase 2 like 1provided by HGNC Primary source HGNC:HGNC:20898 See related Ensembl:ENSG00000165434 MIM:611610; AllianceGenome:HGNC:20898 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 BM32A; PMMLP; NEDHFS Summary Enables glucose-1,6-bisphosphate synthase activity. Predicted to be involved in glucose metabolic process and phosphorylation. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 28.2), endometrium (RPKM 3.0) and 7 other tissues See more Orthologs mouse all
PGM3, Official Symbol PGM3provided by HGNC Official Full Name phosphoglucomutase 3provided by HGNC Primary source HGNC:HGNC:8907 See related Ensembl:ENSG00000013375 MIM:172100; AllianceGenome:HGNC:8907 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 AGM1; PAGM; IMD23; PGM 3 Summary This gene encodes a member of the phosphohexose mutase family. The encoded protein mediates both glycogen formation and utilization by catalyzing the interconversion of glucose-1-phosphate and glucose-6-phosphate. A non-synonymous single nucleotide polymorphism in this gene may play a role in resistance to diabetic nephropathy and neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010] Expression Ubiquitous expression in prostate (RPKM 14.7), thyroid (RPKM 8.9) and 25 other tissues See more Orthologs mouse all
PGM5, Official Symbol PGM5provided by HGNC Official Full Name phosphoglucomutase 5provided by HGNC Primary source HGNC:HGNC:8908 See related Ensembl:ENSG00000154330 MIM:600981; AllianceGenome:HGNC:8908 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 PGMRP Summary Phosphoglucomutases (EC 5.2.2.2.), such as PGM5, are phosphotransferases involved in interconversion of glucose-1-phosphate and glucose-6-phosphate. PGM activity is essential in formation of carbohydrates from glucose-6-phosphate and in formation of glucose-6-phosphate from galactose and glycogen (Edwards et al., 1995 [PubMed 8586438]).[supplied by OMIM, Mar 2008] Expression Broad expression in prostate (RPKM 50.4), esophagus (RPKM 35.1) and 15 other tissues See more Orthologs mouse all
PGM5-AS1, Official Symbol PGM5-AS1provided by HGNC Official Full Name PGM5 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44181 See related Ensembl:ENSG00000224958 AllianceGenome:HGNC:44181 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FAM233A Expression Biased expression in prostate (RPKM 31.6), endometrium (RPKM 17.6) and 4 other tissues See more
PGM5P3-AS1, Official Symbol PGM5P3-AS1provided by HGNC Official Full Name PGM5P3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:51194 See related Ensembl:ENSG00000277631 AllianceGenome:HGNC:51194 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FAM233B Expression Broad expression in spleen (RPKM 4.2), fat (RPKM 3.6) and 15 other tissues See more
PGM5P4-AS1, Official Symbol PGM5P4-AS1provided by HGNC Official Full Name PGM5P4 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:51195 See related Ensembl:ENSG00000231943 AllianceGenome:HGNC:51195 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FAM233C Expression Broad expression in prostate (RPKM 3.3), spleen (RPKM 3.1) and 16 other tissues See more
PGP, Official Symbol PGPprovided by HGNC Official Full Name phosphoglycolate phosphataseprovided by HGNC Primary source HGNC:HGNC:8909 See related Ensembl:ENSG00000184207 MIM:172280; AllianceGenome:HGNC:8909 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 AUM; G3PP; PGPase Summary Enables glycerol-3-phosphatase activity and phosphoglycolate phosphatase activity. Involved in glycerol biosynthetic process; glycerophospholipid metabolic process; and negative regulation of gluconeogenesis. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 12.7), brain (RPKM 7.6) and 25 other tissues See more Orthologs mouse all
PGPEP1, Official Symbol PGPEP1provided by HGNC Official Full Name pyroglutamyl-peptidase Iprovided by HGNC Primary source HGNC:HGNC:13568 See related Ensembl:ENSG00000130517 MIM:610694; AllianceGenome:HGNC:13568 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 PGI; PGP; Pcp; PGPI; PAP-I; PGP-I Summary The gene encodes a cysteine protease and member of the peptidase C15 family of proteins. The encoded protein cleaves amino terminal pyroglutamate residues from protein substrates including thyrotropin-releasing hormone and other neuropeptides. Expression of this gene may be downregulated in colorectal cancer, while activity of the encoded protein may be negatively correlated with cancer progression in colorectal cancer patients. Activity of the encoded protease may also be altered in other disease states including in liver cirrhosis, which is associated with reduced protease activity, and in necrozoospermia, which is associated with elevated protease activity. [provided by RefSeq, Jul 2016] Expression Ubiquitous expression in kidney (RPKM 13.0), duodenum (RPKM 6.7) and 25 other tissues See more Orthologs mouse all
PGPEP1L, Official Symbol PGPEP1Lprovided by HGNC Official Full Name pyroglutamyl-peptidase I likeprovided by HGNC Primary source HGNC:HGNC:27080 See related Ensembl:ENSG00000183571 AllianceGenome:HGNC:27080 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 pyroglutamyl-peptidase activity. Predicted to be involved in proteolysis. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
PGR, Official Symbol PGRprovided by HGNC Official Full Name progesterone receptorprovided by HGNC Primary source HGNC:HGNC:8910 See related Ensembl:ENSG00000082175 MIM:607311; AllianceGenome:HGNC:8910 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 PR; NR3C3 Summary This gene encodes a member of the steroid receptor superfamily. The encoded protein mediates the physiological effects of progesterone, which plays a central role in reproductive events associated with the establishment and maintenance of pregnancy. This gene uses two distinct promotors and translation start sites in the first exon to produce several transcript variants, both protein coding and non-protein coding. Two of the isoforms (A and B) are identical except for an additional 165 amino acids found in the N-terminus of isoform B and mediate their own response genes and physiologic effects with little overlap. [provided by RefSeq, Sep 2015] Expression Biased expression in endometrium (RPKM 46.4) and ovary (RPKM 5.5) See more Orthologs mouse all
PGRMC1, Official Symbol PGRMC1provided by HGNC Official Full Name progesterone receptor membrane component 1provided by HGNC Primary source HGNC:HGNC:16090 See related Ensembl:ENSG00000101856 MIM:300435; AllianceGenome:HGNC:16090 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 IZA; MPR; Dap1; HPR6.6 Summary This gene encodes a putative membrane-associated progesterone steroid receptor. The protein is expressed predominantly in the liver and kidney. [provided by RefSeq, Mar 2010] Expression Ubiquitous expression in liver (RPKM 180.6), kidney (RPKM 113.3) and 24 other tissues See more Orthologs mouse all
PGRMC2, Official Symbol PGRMC2provided by HGNC Official Full Name progesterone receptor membrane component 2provided by HGNC Primary source HGNC:HGNC:16089 See related Ensembl:ENSG00000164040 MIM:607735; AllianceGenome:HGNC:16089 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 DG6; PMBP Summary Enables heme binding activity. Involved in adipose tissue development. Located in endoplasmic reticulum and nuclear envelope. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 36.7), small intestine (RPKM 30.1) and 25 other tissues See more Orthologs mouse all
PGS1, Official Symbol PGS1provided by HGNC Official Full Name phosphatidylglycerophosphate synthase 1provided by HGNC Primary source HGNC:HGNC:30029 See related Ensembl:ENSG00000087157 MIM:614942; AllianceGenome:HGNC:30029 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 CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity and calcium ion binding activity. Predicted to be involved in cardiolipin biosynthetic process and diacylglycerol metabolic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 9.6), appendix (RPKM 8.4) and 25 other tissues See more Orthologs mouse all
PHACTR1, Official Symbol PHACTR1provided by HGNC Official Full Name phosphatase and actin regulator 1provided by HGNC Primary source HGNC:HGNC:20990 See related Ensembl:ENSG00000112137 MIM:608723; AllianceGenome:HGNC:20990 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 RPEL; DEE70; RPEL1; EIEE70; dJ257A7.2 Summary The protein encoded by this gene is a member of the phosphatase and actin regulator family of proteins. This family member can bind actin and regulate the reorganization of the actin cytoskeleton. It plays a role in tubule formation and in endothelial cell survival. Polymorphisms in this gene are associated with susceptibility to myocardial infarction, coronary artery disease and cervical artery dissection. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016] Expression Biased expression in brain (RPKM 12.6), bone marrow (RPKM 5.8) and 12 other tissues See more Orthologs mouse all
PHACTR2, Official Symbol PHACTR2provided by HGNC Official Full Name phosphatase and actin regulator 2provided by HGNC Primary source HGNC:HGNC:20956 See related Ensembl:ENSG00000112419 MIM:608724; AllianceGenome:HGNC:20956 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 C6orf56 Summary Predicted to enable actin binding activity. Predicted to be involved in actin cytoskeleton organization. Predicted to be located in plasma membrane and platelet alpha granule membrane. Implicated in Parkinson's disease and multiple sclerosis. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in placenta (RPKM 29.1), adrenal (RPKM 11.9) and 22 other tissues See more Orthologs mouse all
PHACTR3, Official Symbol PHACTR3provided by HGNC Official Full Name phosphatase and actin regulator 3provided by HGNC Primary source HGNC:HGNC:15833 See related Ensembl:ENSG00000087495 MIM:608725; AllianceGenome:HGNC:15833 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 H17739; SCAPIN1; PPP1R123; SCAPININ; C20orf101 Summary This gene encodes a member of the phosphatase and actin regulator protein family. The encoded protein is associated with the nuclear scaffold in proliferating cells, and binds to actin and the catalytic subunit of protein phosphatase-1, suggesting that it functions as a regulatory subunit of protein phosphatase-1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Expression Biased expression in brain (RPKM 9.3), spleen (RPKM 1.0) and 2 other tissues See more Orthologs mouse all
PHACTR3-AS1, Official Symbol PHACTR3-AS1provided by HGNC Official Full Name PHACTR3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40727 See related Ensembl:ENSG00000238194 AllianceGenome:HGNC:40727 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Restricted expression toward brain (RPKM 1.1) See more
PHACTR4, Official Symbol PHACTR4provided by HGNC Official Full Name phosphatase and actin regulator 4provided by HGNC Primary source HGNC:HGNC:25793 See related Ensembl:ENSG00000204138 MIM:608726; AllianceGenome:HGNC:25793 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 PPP1R124 Summary This gene encodes a member of the phosphatase and actin regulator (PHACTR) family. Other PHACTR family members have been shown to inhibit protein phosphatase 1 (PP1) activity, and the homolog of this gene in the mouse has been shown to interact with actin and PP1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in esophagus (RPKM 8.8), thyroid (RPKM 5.5) and 25 other tissues See more Orthologs mouse all
PHAX, Official Symbol PHAXprovided by HGNC Official Full Name phosphorylated adaptor for RNA exportprovided by HGNC Primary source HGNC:HGNC:10241 See related Ensembl:ENSG00000164902 MIM:604924; AllianceGenome:HGNC:10241 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 RNUXA Summary Enables mRNA cap binding complex binding activity. Involved in RNA stabilization. Located in centrosome and nucleoplasm. Part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 11.7), endometrium (RPKM 7.4) and 25 other tissues See more Orthologs mouse all
PHB2, Official Symbol PHB2provided by HGNC Official Full Name prohibitin 2provided by HGNC Primary source HGNC:HGNC:30306 See related Ensembl:ENSG00000215021 MIM:610704; AllianceGenome:HGNC:30306 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 BAP; REA; p22; hBAP; Bap37; BCAP37; PNAS-141 Summary Enables several functions, including protein C-terminus binding activity; protein N-terminus binding activity; and protein dimerization activity. Involved in several processes, including defense response to virus; positive regulation of cell cycle phase transition; and regulation of transcription, DNA-templated. Located in several cellular components, including cell surface; mitochondrial membrane; and nuclear matrix. Part of mitochondrial prohibitin complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 111.2), duodenum (RPKM 62.9) and 25 other tissues See more Orthologs mouse all
PHC1, Official Symbol PHC1provided by HGNC Official Full Name polyhomeotic homolog 1provided by HGNC Primary source HGNC:HGNC:3182 See related Ensembl:ENSG00000111752 MIM:602978; AllianceGenome:HGNC:3182 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 EDR1; HPH1; RAE28; MCPH11 Summary This gene is a homolog of the Drosophila polyhomeotic gene, which is a member of the Polycomb group of genes. The gene product is a component of a multimeric protein complex that contains EDR2 and the vertebrate Polycomb protein BMH1. The gene product, the EDR2 protein, and the Drosophila polyhomeotic protein share 2 highly conserved domains, named homology domains I and II. These domains are involved in protein-protein interactions and may mediate heterodimerization of the protein encoded by this gene and the EDR2 protein. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 40.0), endometrium (RPKM 27.7) and 25 other tissues See more Orthologs mouse all
PHC2, Official Symbol PHC2provided by HGNC Official Full Name polyhomeotic homolog 2provided by HGNC Primary source HGNC:HGNC:3183 See related Ensembl:ENSG00000134686 MIM:602979; AllianceGenome:HGNC:3183 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 PH2; EDR2; HPH2 Summary In Drosophila melanogaster, the 'Polycomb' group (PcG) of genes are part of a cellular memory system that is responsible for the stable inheritance of gene activity. PcG proteins form a large multimeric, chromatin-associated protein complex. The protein encoded by this gene has homology to the Drosophila PcG protein 'polyhomeotic' (Ph) and is known to heterodimerize with EDR1 and colocalize with BMI1 in interphase nuclei of human cells. The specific function in human cells has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 13.8), endometrium (RPKM 13.8) and 25 other tissues See more Orthologs mouse all
PHC2-AS1, Official Symbol PHC2-AS1provided by HGNC Official Full Name PHC2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40205 See related Ensembl:ENSG00000233246 AllianceGenome:HGNC:40205 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Restricted expression toward testis (RPKM 5.2) See more
PHC3, Official Symbol PHC3provided by HGNC Official Full Name polyhomeotic homolog 3provided by HGNC Primary source HGNC:HGNC:15682 See related Ensembl:ENSG00000173889 MIM:620031; AllianceGenome:HGNC:15682 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 EDR3; HPH3 Summary Predicted to enable chromatin binding activity and histone binding activity. Predicted to be involved in negative regulation of transcription, DNA-templated. Located in nucleoplasm. Part of PRC1 complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 7.6), thyroid (RPKM 6.5) and 25 other tissues See more Orthologs mouse all
PHETA1, Official Symbol PHETA1provided by HGNC Official Full Name PH domain containing endocytic trafficking adaptor 1provided by HGNC Primary source HGNC:HGNC:26509 See related Ensembl:ENSG00000198324 MIM:614239; AllianceGenome:HGNC:26509 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 SES1; FAM109A; IPIP27A Summary This gene encodes a protein that localizes to the endosome and interacts with the enzyme, inositol polyphosphate 5-phosphatase OCRL-1. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010] Expression Ubiquitous expression in small intestine (RPKM 9.7), duodenum (RPKM 9.3) and 24 other tissues See more Orthologs mouse all