psui3905/ncbi_genes_summary huggingface dataset:
PHETA2, Official Symbol PHETA2provided by HGNC Official Full Name PH domain containing endocytic trafficking adaptor 2provided by HGNC Primary source HGNC:HGNC:27161 See related Ensembl:ENSG00000177096 MIM:614240; AllianceGenome:HGNC:27161 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 Ses2; FAM109B; IPIP27B Summary Enables protein homodimerization activity. Involved in endosome organization; receptor recycling; and retrograde transport, endosome to Golgi. Located in cytoplasmic vesicle and trans-Golgi network. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in placenta (RPKM 8.4), urinary bladder (RPKM 5.1) and 24 other tissues See more Orthologs mouse all
PHEX, Official Symbol PHEXprovided by HGNC Official Full Name phosphate regulating endopeptidase X-linkedprovided by HGNC Primary source HGNC:HGNC:8918 See related Ensembl:ENSG00000102174 MIM:300550; AllianceGenome:HGNC:8918 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 HYP; PEX; XLH; HPDR; HYP1; LXHR; HPDR1 Summary The protein encoded by this gene is a transmembrane endopeptidase that belongs to the type II integral membrane zinc-dependent endopeptidase family. The protein is thought to be involved in bone and dentin mineralization and renal phosphate reabsorption. Mutations in this gene cause X-linked hypophosphatemic rickets. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] Expression Broad expression in lung (RPKM 1.3), endometrium (RPKM 1.1) and 15 other tissues See more Orthologs mouse all
PHEX-AS1, Official Symbol PHEX-AS1provided by HGNC Official Full Name PHEX antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40445 See related Ensembl:ENSG00000224204 AllianceGenome:HGNC:40445 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
PHF1, Official Symbol PHF1provided by HGNC Official Full Name PHD finger protein 1provided by HGNC Primary source HGNC:HGNC:8919 See related Ensembl:ENSG00000112511 MIM:602881; AllianceGenome:HGNC:8919 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 PCL1; PHF2; hPHF1; MTF2L2; TDRD19C Summary This gene encodes a Polycomb group protein. The protein is a component of a histone H3 lysine-27 (H3K27)-specific methyltransferase complex, and functions in transcriptional repression of homeotic genes. The protein is also recruited to double-strand breaks, and reduced protein levels results in X-ray sensitivity and increased homologous recombination. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] Expression Ubiquitous expression in ovary (RPKM 47.5), testis (RPKM 44.7) and 25 other tissues See more Orthologs mouse all
PHF10, Official Symbol PHF10provided by HGNC Official Full Name PHD finger protein 10provided by HGNC Primary source HGNC:HGNC:18250 See related Ensembl:ENSG00000130024 MIM:613069; AllianceGenome:HGNC:18250 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 BAF45A; XAP135; SMARCG4 Summary This gene contains a predicted ORF that encodes a protein with two zinc finger domains. The function of the encoded protein is not known. Sequence analysis suggests that multiple alternatively spliced transcript variants are derived from this gene but the full-length nature of only two of them is known. These two splice variants encode different isoforms. A pseudogene for this gene is located on Xq28. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in adrenal (RPKM 31.1), ovary (RPKM 25.5) and 25 other tissues See more Orthologs mouse all
PHF11, Official Symbol PHF11provided by HGNC Official Full Name PHD finger protein 11provided by HGNC Primary source HGNC:HGNC:17024 See related Ensembl:ENSG00000136147 MIM:607796; AllianceGenome:HGNC:17024 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 APY; BCAP; IGEL; IGER; IGHER; NYREN34; NY-REN-34 Summary This gene encodes a protein containing a PHD (plant homeodomain) type zinc finger. This gene has been identified in some studies as a candidate gene for asthma. Naturally-occurring readthrough transcription may occur from the upstream SETDB2 (SET domain bifurcated 2) gene to this locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016] Expression Ubiquitous expression in lymph node (RPKM 13.0), spleen (RPKM 12.7) and 25 other tissues See more Orthologs all
PHF12, Official Symbol PHF12provided by HGNC Official Full Name PHD finger protein 12provided by HGNC Primary source HGNC:HGNC:20816 See related Ensembl:ENSG00000109118 MIM:618645; AllianceGenome:HGNC:20816 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 PF1 Summary Enables phosphatidylinositol binding activity and transcription corepressor activity. Involved in negative regulation of transcription, DNA-templated. Acts upstream of or within negative regulation of transcription by RNA polymerase II. Located in nucleoplasm. Part of Sin3 complex and transcription repressor complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 8.9), spleen (RPKM 8.2) and 25 other tissues See more Orthologs mouse all
PHF13, Official Symbol PHF13provided by HGNC Official Full Name PHD finger protein 13provided by HGNC Primary source HGNC:HGNC:22983 See related Ensembl:ENSG00000116273 MIM:620054; AllianceGenome:HGNC:22983 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 PHF5; SPOC1 Summary Enables chromatin binding activity. Involved in mitotic chromosome condensation. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 26.3), endometrium (RPKM 8.4) and 25 other tissues See more Orthologs mouse all
PHF14, Official Symbol PHF14provided by HGNC Official Full Name PHD finger protein 14provided by HGNC Primary source HGNC:HGNC:22203 See related Ensembl:ENSG00000106443 MIM:619907; AllianceGenome:HGNC:22203 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 histone binding activity. Predicted to be involved in histone H3-K14 acetylation and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including lung alveolus development; negative regulation of mesenchymal cell proliferation involved in lung development; and negative regulation of platelet-derived growth factor receptor-alpha signaling pathway. Predicted to be located in nucleus. Predicted to be part of MOZ/MORF histone acetyltransferase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 4.6), endometrium (RPKM 2.7) and 25 other tissues See more Orthologs mouse all
PHF19, Official Symbol PHF19provided by HGNC Official Full Name PHD finger protein 19provided by HGNC Primary source HGNC:HGNC:24566 See related Ensembl:ENSG00000119403 MIM:609740; AllianceGenome:HGNC:24566 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 PCL3; MTF2L1; TDRD19B Summary Enables methylated histone binding activity. Involved in positive regulation of histone H3-K27 methylation. Colocalizes with ESC/E(Z) complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 8.7), ovary (RPKM 6.6) and 24 other tissues See more Orthologs mouse all
PHF2, Official Symbol PHF2provided by HGNC Official Full Name PHD finger protein 2provided by HGNC Primary source HGNC:HGNC:8920 See related Ensembl:ENSG00000197724 MIM:604351; AllianceGenome:HGNC:8920 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 GRC5; KDM7C; JHDM1E; CENP-35 Summary This gene encodes a protein which contains a zinc finger-like PHD (plant homeodomain) finger, distinct from other classes of zinc finger motifs, and a hydrophobic and highly conserved domain. The PHD finger shows the typical Cys4-His-Cys3 arrangement. PHD finger genes are thought to belong to a diverse group of transcriptional regulators possibly affecting eukaryotic gene expression by influencing chromatin structure. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in ovary (RPKM 14.2), endometrium (RPKM 13.4) and 25 other tissues See more Orthologs mouse all
PHF20, Official Symbol PHF20provided by HGNC Official Full Name PHD finger protein 20provided by HGNC Primary source HGNC:HGNC:16098 See related Ensembl:ENSG00000025293 MIM:610335; AllianceGenome:HGNC:16098 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 NZF; TZP; GLEA2; HCA58; TDRD20A; C20orf104 Summary Predicted to enable DNA binding activity and metal ion binding activity. Involved in histone H4-K16 acetylation; histone H4-K5 acetylation; and histone H4-K8 acetylation. Located in cytosol; nuclear membrane; and nucleoplasm. Part of MLL1 complex and histone acetyltransferase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 8.8), brain (RPKM 8.0) and 25 other tissues See more Orthologs mouse all
PHF20L1, Official Symbol PHF20L1provided by HGNC Official Full Name PHD finger protein 20 like 1provided by HGNC Primary source HGNC:HGNC:24280 See related Ensembl:ENSG00000129292 MIM:620050; AllianceGenome:HGNC:24280 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 URLC1; CGI-72; TDRD20B Summary Predicted to enable metal ion binding activity. Predicted to be involved in histone acetylation and regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. Predicted to be part of NSL complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 8.3), testis (RPKM 4.7) and 25 other tissues See more Orthologs mouse all
PHF21A, Official Symbol PHF21Aprovided by HGNC Official Full Name PHD finger protein 21Aprovided by HGNC Primary source HGNC:HGNC:24156 See related Ensembl:ENSG00000135365 MIM:608325; AllianceGenome:HGNC:24156 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 BHC80; NEDMS; BM-006; IDDBCS Summary The PHF21A gene encodes BHC80, a component of a BRAF35 (MIM 605535)/histone deacetylase (HDAC; see MIM 601241) complex (BHC) that mediates repression of neuron-specific genes through the cis-regulatory element known as repressor element-1 (RE1) or neural restrictive silencer (NRS) (Hakimi et al., 2002 [PubMed 12032298]).[supplied by OMIM, Nov 2010] Expression Ubiquitous expression in testis (RPKM 7.2), ovary (RPKM 5.9) and 25 other tissues See more Orthologs mouse all
PHF21B, Official Symbol PHF21Bprovided by HGNC Official Full Name PHD finger protein 21Bprovided by HGNC Primary source HGNC:HGNC:25161 See related Ensembl:ENSG00000056487 MIM:616727; AllianceGenome:HGNC:25161 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 PHF4; BHC80L Summary Predicted to enable metal ion binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 1.4), brain (RPKM 1.4) and 8 other tissues See more Orthologs mouse all
PHF23, Official Symbol PHF23provided by HGNC Official Full Name PHD finger protein 23provided by HGNC Primary source HGNC:HGNC:28428 See related Ensembl:ENSG00000040633 MIM:612910; AllianceGenome:HGNC:28428 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 hJUNE-1b Summary Predicted to enable metal ion binding activity. Involved in negative regulation of autophagosome assembly; negative regulation of autophagosome maturation; and positive regulation of protein ubiquitination. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in esophagus (RPKM 12.0), testis (RPKM 11.9) and 25 other tissues See more Orthologs mouse all
PHF24, Official Symbol PHF24provided by HGNC Official Full Name PHD finger protein 24provided by HGNC Primary source HGNC:HGNC:29180 See related Ensembl:ENSG00000122733 MIM:619928; AllianceGenome:HGNC:29180 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 GINIP Summary Predicted to enable metal ion binding activity. Predicted to act upstream of or within several processes, including detection of mechanical stimulus involved in sensory perception of pain; gamma-aminobutyric acid signaling pathway; and regulation of GABAergic synaptic transmission. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 19.5) and testis (RPKM 9.9) See more Orthologs mouse all
PHF3, Official Symbol PHF3provided by HGNC Official Full Name PHD finger protein 3provided by HGNC Primary source HGNC:HGNC:8921 See related Ensembl:ENSG00000118482 MIM:607789; AllianceGenome:HGNC:8921 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 a PHD finger-containing gene family. This gene may function as a transcription factor and may be involved in glioblastomas development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] Expression Ubiquitous expression in testis (RPKM 15.6), thyroid (RPKM 14.4) and 25 other tissues See more Orthologs mouse all
PHF5A, Official Symbol PHF5Aprovided by HGNC Official Full Name PHD finger protein 5Aprovided by HGNC Primary source HGNC:HGNC:18000 See related Ensembl:ENSG00000100410 MIM:617846; AllianceGenome:HGNC:18000 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 INI; Rds3; SF3B7; SAP14b; SF3b14b; bK223H9.2 Summary This gene encodes a subunit of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence-independent manner and may anchor the U2 snRNP to the pre-mRNA. The protein encoded by this gene contains a PHD-finger-like domain that is flanked by highly basic N- and C-termini. This protein belongs to the PHD-finger superfamily and may act as a chromatin-associated protein. This gene has several pseudogenes on different chromosomes. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 19.5), lymph node (RPKM 15.5) and 25 other tissues See more Orthologs mouse all
PHF6, Official Symbol PHF6provided by HGNC Official Full Name PHD finger protein 6provided by HGNC Primary source HGNC:HGNC:18145 See related Ensembl:ENSG00000156531 MIM:300414; AllianceGenome:HGNC:18145 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 BFLS; BORJ; CENP-31 Summary This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus. Mutations affecting the coding region of this gene or the splicing of the transcript have been associated with Borjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by cognitive disability, epilepsy, hypogonadism, hypometabolism, obesity, swelling of subcutaneous tissue of the face, narrow palpebral fissures, and large ears. Alternate splicing results in multiple transcript variants, encoding different isoforms. [provided by RefSeq, Jun 2010] Expression Ubiquitous expression in ovary (RPKM 17.4), lymph node (RPKM 13.6) and 25 other tissues See more Orthologs mouse all
PHF7, Official Symbol PHF7provided by HGNC Official Full Name PHD finger protein 7provided by HGNC Primary source HGNC:HGNC:18458 See related Ensembl:ENSG00000010318 MIM:620057; AllianceGenome:HGNC:18458 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 HSPC045; HSPC226; NYD-SP6 Summary Spermatogenesis is a complex process regulated by extracellular and intracellular factors as well as cellular interactions among interstitial cells of the testis, Sertoli cells, and germ cells. This gene is expressed in the testis in Sertoli cells but not germ cells. The protein encoded by this gene contains plant homeodomain (PHD) finger domains, also known as leukemia associated protein (LAP) domains, believed to be involved in transcriptional regulation. The protein, which localizes to the nucleus of transfected cells, has been implicated in the transcriptional regulation of spermatogenesis. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013] Expression Restricted expression toward testis (RPKM 610.5) See more Orthologs mouse all
PHF8, Official Symbol PHF8provided by HGNC Official Full Name PHD finger protein 8provided by HGNC Primary source HGNC:HGNC:20672 See related Ensembl:ENSG00000172943 MIM:300560; AllianceGenome:HGNC:20672 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 KDM7B; JHDM1F; MRXSSD; ZNF422 Summary The protein encoded by this gene is a histone lysine demethylase that preferentially acts on histones in the monomethyl or dimethyl states. The encoded protein requires Fe(2+) ion, 2-oxoglutarate, and oxygen for its catalytic activity. The protein has an N-terminal PHD finger and a central Jumonji C domain. This gene is thought to function as a transcription activator. Defects in this gene are a cause of syndromic X-linked Siderius type intellectual disability (MRXSSD) and over-expression of this gene is associated with several forms of cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017] Expression Broad expression in testis (RPKM 19.3), ovary (RPKM 6.7) and 25 other tissues See more Orthologs mouse all
PHGDH, Official Symbol PHGDHprovided by HGNC Official Full Name phosphoglycerate dehydrogenaseprovided by HGNC Primary source HGNC:HGNC:8923 See related Ensembl:ENSG00000092621 MIM:606879; AllianceGenome:HGNC:8923 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 NLS; PDG; PGD; NLS1; PGAD; PGDH; SERA; 3PGDH; 3-PGDH; PHGDHD; HEL-S-113 Summary This gene encodes the enzyme which is involved in the early steps of L-serine synthesis in animal cells. L-serine is required for D-serine and other amino acid synthesis. The enzyme requires NAD/NADH as a cofactor and forms homotetramers for activity. Mutations in this gene have been found in a family with congenital microcephaly, psychomotor retardation and other symptoms. Multiple alternatively spliced transcript variants have been found, however the full-length nature of most are not known. [provided by RefSeq, Aug 2011] Expression Broad expression in fat (RPKM 36.0), skin (RPKM 33.6) and 23 other tissues See more Orthologs mouse all
PHGR1, Official Symbol PHGR1provided by HGNC Official Full Name proline, histidine and glycine rich 1provided by HGNC Primary source HGNC:HGNC:37226 See related Ensembl:ENSG00000233041 AllianceGenome:HGNC:37226 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 Expression Biased expression in colon (RPKM 823.2), small intestine (RPKM 313.1) and 2 other tissues See more Orthologs mouse all
PHIP, Official Symbol PHIPprovided by HGNC Official Full Name pleckstrin homology domain interacting proteinprovided by HGNC Primary source HGNC:HGNC:15673 See related Ensembl:ENSG00000146247 MIM:612870; AllianceGenome:HGNC:15673 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 ndrp; BRWD2; DIDOD; WDR11; DCAF14; CHUJANS Summary This gene encodes a protein that binds to the insulin receptor substrate 1 protein and regulates glucose transporter translocation in skeletal muscle cells. The encoded protein may also regulate growth and survival of pancreatic beta cells. Elevated copy number of this gene may be associated with melanoma severity and the encoded protein may promote melanoma metastasis in human patients. [provided by RefSeq, Oct 2016] Expression Ubiquitous expression in bone marrow (RPKM 13.2), endometrium (RPKM 7.1) and 25 other tissues See more Orthologs mouse all
PHKA1, Official Symbol PHKA1provided by HGNC Official Full Name phosphorylase kinase regulatory subunit alpha 1provided by HGNC Primary source HGNC:HGNC:8925 See related Ensembl:ENSG00000067177 MIM:311870; AllianceGenome:HGNC:8925 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 PHKA Summary Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the skeletal muscle isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9D, also known as X-linked muscle glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. A pseudogene has been found on chromosome 1.[provided by RefSeq, Feb 2010] Expression Ubiquitous expression in adrenal (RPKM 5.8), thyroid (RPKM 4.1) and 24 other tissues See more Orthologs mouse all
PHKA1-AS1, Official Symbol PHKA1-AS1provided by HGNC Official Full Name PHKA1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40446 See related Ensembl:ENSG00000231944 AllianceGenome:HGNC:40446 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
PHKA2, Official Symbol PHKA2provided by HGNC Official Full Name phosphorylase kinase regulatory subunit alpha 2provided by HGNC Primary source HGNC:HGNC:8926 See related Ensembl:ENSG00000044446 MIM:300798; AllianceGenome:HGNC:8926 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 PHK; PYK; XLG; PYKL; XLG2; GSD9A Summary Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9A, also known as X-linked liver glycogenosis. Alternatively spliced transcript variants have been reported, but the full-length nature of these variants has not been determined.[provided by RefSeq, Feb 2010] Expression Ubiquitous expression in fat (RPKM 8.9), ovary (RPKM 8.4) and 25 other tissues See more Orthologs mouse all
PHKB, Official Symbol PHKBprovided by HGNC Official Full Name phosphorylase kinase regulatory subunit betaprovided by HGNC Primary source HGNC:HGNC:8927 See related Ensembl:ENSG00000102893 MIM:172490; AllianceGenome:HGNC:8927 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 Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, encoded by this gene, which is a member of the phosphorylase b kinase regulatory subunit family. The gamma subunit also includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9B, also known as phosphorylase kinase deficiency of liver and muscle. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively.[provided by RefSeq, Feb 2010] Expression Ubiquitous expression in thyroid (RPKM 18.4), adrenal (RPKM 12.6) and 25 other tissues See more Orthologs mouse all
PHKBP1, Official Symbol PHKBP1provided by HGNC Official Full Name phosphorylase kinase regulatory subunit beta pseudogene 1provided by HGNC Primary source HGNC:HGNC:8928 See related Ensembl:ENSG00000226262 AllianceGenome:HGNC:8928 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PHKG1, Official Symbol PHKG1provided by HGNC Official Full Name phosphorylase kinase catalytic subunit gamma 1provided by HGNC Primary source HGNC:HGNC:8930 See related Ensembl:ENSG00000164776 MIM:172470; AllianceGenome:HGNC:8930 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 PHKG Summary This gene is a member of the Ser/Thr protein kinase family and encodes a protein with one protein kinase domain and two calmodulin-binding domains. This protein is the catalytic member of a 16 subunit protein kinase complex which contains equimolar ratios of 4 subunit types. The complex is a crucial glycogenolytic regulatory enzyme. This gene has two pseudogenes at chromosome 7q11.21 and one at chromosome 11p11.12. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] Expression Ubiquitous expression in prostate (RPKM 8.4), thyroid (RPKM 7.9) and 25 other tissues See more Orthologs mouse all
PHKG1P1, Official Symbol PHKG1P1provided by HGNC Official Full Name phosphorylase kinase catalytic subunit gamma 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:33916 See related Ensembl:ENSG00000226075 AllianceGenome:HGNC:33916 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PHKG1P3, Official Symbol PHKG1P3provided by HGNC Official Full Name phosphorylase kinase catalytic subunit gamma 1 pseudogene 3provided by HGNC Primary source HGNC:HGNC:8932 See related Ensembl:ENSG00000236919 AllianceGenome:HGNC:8932 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 PHKGL; PHKg1ps2
PHKG1P4, Official Symbol PHKG1P4provided by HGNC Official Full Name phosphorylase kinase catalytic subunit gamma 1 pseudogene 4provided by HGNC Primary source HGNC:HGNC:33918 See related AllianceGenome:HGNC:33918 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PHKG2, Official Symbol PHKG2provided by HGNC Official Full Name phosphorylase kinase catalytic subunit gamma 2provided by HGNC Primary source HGNC:HGNC:8931 See related Ensembl:ENSG00000156873 MIM:172471; AllianceGenome:HGNC:8931 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 GSD9C Summary Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9C, also known as autosomal liver glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010] Expression Broad expression in testis (RPKM 22.8), bone marrow (RPKM 6.1) and 24 other tissues See more Orthologs mouse all
PHLDA1, Official Symbol PHLDA1provided by HGNC Official Full Name pleckstrin homology like domain family A member 1provided by HGNC Primary source HGNC:HGNC:8933 See related Ensembl:ENSG00000139289 MIM:605335; AllianceGenome:HGNC:8933 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 PHRIP; TDAG51; DT1P1B11 Summary This gene encodes an evolutionarily conserved proline-histidine rich nuclear protein. The encoded protein may play an important role in the anti-apoptotic effects of insulin-like growth factor-1. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in salivary gland (RPKM 37.9), liver (RPKM 29.7) and 25 other tissues See more Orthologs mouse all
PHLDA2, Official Symbol PHLDA2provided by HGNC Official Full Name pleckstrin homology like domain family A member 2provided by HGNC Primary source HGNC:HGNC:12385 See related Ensembl:ENSG00000181649 MIM:602131; AllianceGenome:HGNC:12385 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 IPL; BRW1C; BWR1C; HLDA2; TSSC3 Summary This gene is located in a cluster of imprinted genes on chromosome 11p15.5, which is considered to be an important tumor suppressor gene region. Alterations in this region may be associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene has been shown to be imprinted, with preferential expression from the maternal allele in placenta and liver. [provided by RefSeq, Oct 2010] Expression Biased expression in placenta (RPKM 44.3), colon (RPKM 8.6) and 3 other tissues See more Orthologs mouse all
PHLDA3, Official Symbol PHLDA3provided by HGNC Official Full Name pleckstrin homology like domain family A member 3provided by HGNC Primary source HGNC:HGNC:8934 See related Ensembl:ENSG00000174307 MIM:607054; AllianceGenome:HGNC:8934 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 TIH1 Summary Enables phosphatidylinositol phosphate binding activity and phosphatidylinositol-3,4-bisphosphate binding activity. Involved in intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator; negative regulation of protein kinase B signaling; and positive regulation of apoptotic process. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in fat (RPKM 24.2), esophagus (RPKM 11.1) and 22 other tissues See more Orthologs mouse all
PHLDB1, Official Symbol PHLDB1provided by HGNC Official Full Name pleckstrin homology like domain family B member 1provided by HGNC Primary source HGNC:HGNC:23697 See related Ensembl:ENSG00000019144 MIM:612834; AllianceGenome:HGNC:23697 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 LL5A; LL5alpha Summary Involved in regulation of embryonic development; regulation of epithelial to mesenchymal transition; and regulation of microtubule cytoskeleton organization. Located in basal cortex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 23.2), brain (RPKM 15.4) and 23 other tissues See more Orthologs mouse all
PHLDB2, Official Symbol PHLDB2provided by HGNC Official Full Name pleckstrin homology like domain family B member 2provided by HGNC Primary source HGNC:HGNC:29573 See related Ensembl:ENSG00000144824 MIM:610298; AllianceGenome:HGNC:29573 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 LL5b; LL5beta Summary Enables cadherin binding activity. Involved in several processes, including negative regulation of focal adhesion assembly; regulation of cytoskeleton organization; and regulation of embryonic development. Located in several cellular components, including basal cortex; cell leading edge; and intermediate filament cytoskeleton. Colocalizes with focal adhesion. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in placenta (RPKM 18.1), kidney (RPKM 15.7) and 24 other tissues See more Orthologs mouse all
PHLDB3, Official Symbol PHLDB3provided by HGNC Official Full Name pleckstrin homology like domain family B member 3provided by HGNC Primary source HGNC:HGNC:30499 See related Ensembl:ENSG00000176531 AllianceGenome:HGNC:30499 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 Enables enzyme binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 4.9), skin (RPKM 3.9) and 25 other tissues See more Orthologs mouse all
PHLPP1, Official Symbol PHLPP1provided by HGNC Official Full Name PH domain and leucine rich repeat protein phosphatase 1provided by HGNC Primary source HGNC:HGNC:20610 See related Ensembl:ENSG00000081913 MIM:609396; AllianceGenome:HGNC:20610 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 SCOP; PHLPP; PPM3A; PLEKHE1 Summary This gene encodes a member of the serine/threonine phosphatase family. The encoded protein promotes apoptosis by dephosphorylating and inactivating the serine/threonine kinase Akt, and functions as a tumor suppressor in multiple types of cancer. Increased expression of this gene may also play a role in obesity and type 2 diabetes by interfering with Akt-mediated insulin signaling. [provided by RefSeq, Dec 2011] Expression Broad expression in brain (RPKM 17.2), testis (RPKM 8.3) and 25 other tissues See more Orthologs mouse all
PHLPP2, Official Symbol PHLPP2provided by HGNC Official Full Name PH domain and leucine rich repeat protein phosphatase 2provided by HGNC Primary source HGNC:HGNC:29149 See related Ensembl:ENSG00000040199 MIM:611066; AllianceGenome:HGNC:29149 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 PPM3B; PHLPPL Summary Predicted to enable protein serine/threonine phosphatase activity. Predicted to be involved in signal transduction. Located in several cellular components, including intercellular bridge; mitotic spindle; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in small intestine (RPKM 11.5), colon (RPKM 5.9) and 22 other tissues See more Orthologs mouse all
PHOSPHO1, Official Symbol PHOSPHO1provided by HGNC Official Full Name phosphoethanolamine/phosphocholine phosphatase 1provided by HGNC Primary source HGNC:HGNC:16815 See related Ensembl:ENSG00000173868 AllianceGenome:HGNC:16815 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 Enables pyrophosphatase activity. Predicted to be involved in bone mineralization involved in bone maturation. Predicted to act upstream of or within endochondral ossification. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 17.3), bone marrow (RPKM 8.3) and 3 other tissues See more Orthologs mouse all
PHOSPHO2, Official Symbol PHOSPHO2provided by HGNC Official Full Name phosphatase, orphan 2provided by HGNC Primary source HGNC:HGNC:28316 See related Ensembl:ENSG00000144362 AllianceGenome:HGNC:28316 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 phosphatase activity. Predicted to be involved in dephosphorylation. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 6.7), prostate (RPKM 5.4) and 25 other tissues See more Orthologs mouse all
PHOX2A, Official Symbol PHOX2Aprovided by HGNC Official Full Name paired like homeobox 2Aprovided by HGNC Primary source HGNC:HGNC:691 See related Ensembl:ENSG00000165462 MIM:602753; AllianceGenome:HGNC:691 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 ARIX; FEOM2; NCAM2; PMX2A; CFEOM2 Summary The protein encoded by this gene contains a paired-like homeodomain most similar to that of the Drosophila aristaless gene product. The encoded protein plays a central role in development of the autonomic nervous system. It regulates the expression of tyrosine hydroxylase and dopamine beta-hydroxylase, two catecholaminergic biosynthetic enzymes essential for the differentiation and maintenance of the noradrenergic neurotransmitter phenotype. The encoded protein has also been shown to regulate transcription of the alpha3 nicotinic acetylcholine receptor gene. Mutations in this gene have been associated with autosomal recessive congenital fibrosis of the extraocular muscles. [provided by RefSeq, Jul 2008] Expression Biased expression in adrenal (RPKM 6.0) and appendix (RPKM 0.4) See more Orthologs mouse all
PHOX2B, Official Symbol PHOX2Bprovided by HGNC Official Full Name paired like homeobox 2Bprovided by HGNC Primary source HGNC:HGNC:9143 See related Ensembl:ENSG00000109132 MIM:603851; AllianceGenome:HGNC:9143 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 CCHS; PMX2B; NBLST2; NBPhox Summary The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription factor involved in the development of several major noradrenergic neuron populations and the determination of neurotransmitter phenotype. The gene product is linked to enhancement of second messenger-mediated activation of the dopamine beta-hydroylase, c-fos promoters and several enhancers, including cyclic amp-response element and serum-response element. Expansion of a 20 amino acid polyalanine tract in this protein by 5-13 aa has been associated with congenital central hypoventilation syndrome. [provided by RefSeq, Jul 2016] Expression Biased expression in adrenal (RPKM 4.8), small intestine (RPKM 0.5) and 3 other tissues See more Orthologs mouse all
PHOX2B-AS1, Official Symbol PHOX2B-AS1provided by HGNC Official Full Name PHOX2B antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40457 See related AllianceGenome:HGNC:40457 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
PHPT1, Official Symbol PHPT1provided by HGNC Official Full Name phosphohistidine phosphatase 1provided by HGNC Primary source HGNC:HGNC:30033 See related Ensembl:ENSG00000054148 MIM:610167; AllianceGenome:HGNC:30033 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 PHP; PHP14; CGI-202; HSPC141; HEL-S-132P Summary This gene encodes an enzyme that catalyzes the reversible dephosphorylation of histidine residues in proteins. It may be involved in the dephosphorylation of G-beta and ATP citrate lyase and in negatively regulating CD4 T lymphocytes by dephosphorylation and inhibition of KCa3.1 channels. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] Expression Ubiquitous expression in heart (RPKM 26.6), prostate (RPKM 24.5) and 25 other tissues See more Orthologs mouse all
PHRF1, Official Symbol PHRF1provided by HGNC Official Full Name PHD and ring finger domains 1provided by HGNC Primary source HGNC:HGNC:24351 See related Ensembl:ENSG00000070047 MIM:611780; AllianceGenome:HGNC:24351 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 RNF221; PPP1R125 Summary Predicted to enable RNA polymerase binding activity. Predicted to be involved in mRNA processing and transcription by RNA polymerase II. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 9.2), spleen (RPKM 7.4) and 25 other tissues See more Orthologs mouse all