psui3905/ncbi_genes_summary huggingface dataset:
PTCH1, Official Symbol PTCH1provided by HGNC Official Full Name patched 1provided by HGNC Primary source HGNC:HGNC:9585 See related Ensembl:ENSG00000185920 MIM:601309; AllianceGenome:HGNC:9585 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 PTC; BCNS; PTC1; PTCH; BCNS1; NBCCS Summary This gene encodes a member of the patched family of proteins and a component of the hedgehog signaling pathway. Hedgehog signaling is important in embryonic development and tumorigenesis. The encoded protein is the receptor for the secreted hedgehog ligands, which include sonic hedgehog, indian hedgehog and desert hedgehog. Following binding by one of the hedgehog ligands, the encoded protein is trafficked away from the primary cilium, relieving inhibition of the G-protein-coupled receptor smoothened, which results in activation of downstream signaling. Mutations of this gene have been associated with basal cell nevus syndrome and holoprosencephaly. [provided by RefSeq, Aug 2017] Expression Broad expression in endometrium (RPKM 11.5), testis (RPKM 8.7) and 24 other tissues See more Orthologs mouse all
PTCH2, Official Symbol PTCH2provided by HGNC Official Full Name patched 2provided by HGNC Primary source HGNC:HGNC:9586 See related Ensembl:ENSG00000117425 MIM:603673; AllianceGenome:HGNC:9586 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 PTC2 Summary This gene encodes a transmembrane receptor of the patched gene family. The encoded protein may function as a tumor suppressor in the hedgehog signaling pathway. Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal cell carcinoma, medulloblastoma, and susceptibility to congenital macrostomia. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009] Expression Biased expression in salivary gland (RPKM 12.5), testis (RPKM 11.4) and 10 other tissues See more Orthologs mouse all
PTCHD1, Official Symbol PTCHD1provided by HGNC Official Full Name patched domain containing 1provided by HGNC Primary source HGNC:HGNC:26392 See related Ensembl:ENSG00000165186 MIM:300828; AllianceGenome:HGNC:26392 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 AUTSX4; DELXP22.11; CXDELp22.11 Summary This gene encodes a membrane protein with a patched domain. The encoded protein is similar to Drosophila proteins which act as receptors for the morphogen sonic hedgehog. Deletions in this gene, which is located on the X chromosome, are associated with intellectual disability and autism (PMID: 21091464, PMID: 20844286). [provided by RefSeq, Aug 2011] Expression Biased expression in brain (RPKM 1.9), endometrium (RPKM 0.9) and 12 other tissues See more Orthologs mouse all
PTCHD3, Official Symbol PTCHD3provided by HGNC Official Full Name patched domain containing 3 (gene/pseudogene)provided by HGNC Primary source HGNC:HGNC:24776 See related Ensembl:ENSG00000182077 MIM:611791; AllianceGenome:HGNC:24776 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 PTR Summary Predicted to be located in sperm midpiece. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Annotation category: suggests misassembly Expression Restricted expression toward testis (RPKM 3.3) See more Orthologs mouse all
PTCHD4, Official Symbol PTCHD4provided by HGNC Official Full Name patched domain containing 4provided by HGNC Primary source HGNC:HGNC:21345 See related Ensembl:ENSG00000244694 MIM:616908; AllianceGenome:HGNC:21345 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 PTCH53; C6orf138; dJ402H5.2 Summary Predicted to be integral component of membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
PTCRA, Official Symbol PTCRAprovided by HGNC Official Full Name pre T cell antigen receptor alphaprovided by HGNC Primary source HGNC:HGNC:21290 See related Ensembl:ENSG00000171611 MIM:606817; AllianceGenome:HGNC:21290 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 PTA; PT-ALPHA Summary The protein encoded by this gene is a single-pass type I membrane protein that is found in immmature but not mature T-cells. Along with TCRB and CD3 complex, the encoded protein forms the pre-T-cell receptor complex, which regulates early T-cell development. Four transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011] Expression Biased expression in spleen (RPKM 1.2), lymph node (RPKM 0.8) and 5 other tissues See more Orthologs mouse all
PTCSC1, Official Symbol PTCSC1provided by HGNC Official Full Name papillary thyroid carcinoma susceptibility candidate 1provided by HGNC Primary source HGNC:HGNC:37127 See related Ensembl:ENSG00000287736 MIM:617440; AllianceGenome:HGNC:37127 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 PTCSC; NCRNA00197
PTCSC2, Official Symbol PTCSC2provided by HGNC Official Full Name papillary thyroid carcinoma susceptibility candidate 2provided by HGNC Primary source HGNC:HGNC:44086 See related Ensembl:ENSG00000236130 AllianceGenome:HGNC:44086 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PTDSS1, Official Symbol PTDSS1provided by HGNC Official Full Name phosphatidylserine synthase 1provided by HGNC Primary source HGNC:HGNC:9587 See related Ensembl:ENSG00000156471 MIM:612792; AllianceGenome:HGNC:9587 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 LMHD; PSS1; PSSA Summary The protein encoded by this gene catalyzes the formation of phosphatidylserine from either phosphatidylcholine or phosphatidylethanolamine. Phosphatidylserine localizes to the mitochondria-associated membrane of the endoplasmic reticulum, where it serves a structural role as well as a signaling role. Defects in this gene are a cause of Lenz-Majewski hyperostotic dwarfism. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014] Expression Ubiquitous expression in heart (RPKM 35.2), placenta (RPKM 27.0) and 25 other tissues See more Orthologs mouse all
PTDSS2, Official Symbol PTDSS2provided by HGNC Official Full Name phosphatidylserine synthase 2provided by HGNC Primary source HGNC:HGNC:15463 See related Ensembl:ENSG00000174915 MIM:612793; AllianceGenome:HGNC:15463 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 PSS2 Summary The protein encoded by this gene catalyzes the conversion of phosphatidylethanolamine to phosphatidylserine, a structural membrane phospholipid that functions in cell signaling, blood coagulation, and apoptosis. The encoded enzyme also has a high affinity for docosahexaenoic acid (DHA) and can use it to make DHA-containing phosphatidylserine. [provided by RefSeq, Jul 2016] Expression Broad expression in testis (RPKM 10.7), kidney (RPKM 4.4) and 25 other tissues See more Orthologs mouse all
PTEN, Official Symbol PTENprovided by HGNC Official Full Name phosphatase and tensin homologprovided by HGNC Primary source HGNC:HGNC:9588 See related Ensembl:ENSG00000171862 MIM:601728; AllianceGenome:HGNC:9588 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 BZS; DEC; CWS1; GLM2; MHAM; TEP1; MMAC1; PTEN1; 10q23del; PTENbeta Summary This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. The protein encoded by this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It contains a tensin like domain as well as a catalytic domain similar to that of the dual specificity protein tyrosine phosphatases. Unlike most of the protein tyrosine phosphatases, this protein preferentially dephosphorylates phosphoinositide substrates. It negatively regulates intracellular levels of phosphatidylinositol-3,4,5-trisphosphate in cells and functions as a tumor suppressor by negatively regulating AKT/PKB signaling pathway. The use of a non-canonical (CUG) upstream initiation site produces a longer isoform that initiates translation with a leucine, and is thought to be preferentially associated with the mitochondrial inner membrane. This longer isoform may help regulate energy metabolism in the mitochondria. A pseudogene of this gene is found on chromosome 9. Alternative splicing and the use of multiple translation start codons results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015] Annotation information Annotation category: suggests misassembly Expression Ubiquitous expression in fat (RPKM 42.8), spleen (RPKM 28.6) and 25 other tissues See more Orthologs mouse all
PTENP1, Official Symbol PTENP1provided by HGNC Official Full Name phosphatase and tensin homolog pseudogene 1provided by HGNC Primary source HGNC:HGNC:9589 See related Ensembl:ENSG00000237984 MIM:613531; AllianceGenome:HGNC:9589 Gene type pseudo RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PTH2; PTEN2; PTEN-rs; PTENpg1; psiPTEN Summary PTENP1 represents a highly homologous processed pseudogene of PTEN (phosphatase and tensin homolog), a protein that encodes a tumor suppressor that functions by negatively regulating the AKT/PKB signaling pathway. PTENP1 is found on chromosome 9 and regulates PTEN by both sense and antisense RNAs (Gene ID: 101243555). This long-noncoding RNA (lncRNA) acts as a decoy for PTEN targeting microRNAs and also exerts a tumor suppressive activity. [provided by RefSeq, Jun 2020]
PTENP1-AS, Official Symbol PTENP1-ASprovided by HGNC Official Full Name PTENP1 antisense RNAprovided by HGNC Primary source HGNC:HGNC:48773 See related Ensembl:ENSG00000281128 AllianceGenome:HGNC:48773 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 PTENP1as; PTENpg1-asRNA Summary PTENP1-AS encodes an antisense RNA (asRNA) of PTENP1, a PTEN (phosphatase and tensin homolog) pseudogene. PTENP1 regulates PTEN by both sense (GeneID: 11191) and antisense RNAs. This antisense RNA (PTENP1-AS) regulates PTEN transcription and mRNA stability. [provided by RefSeq, Jun 2020]
PTER, Official Symbol PTERprovided by HGNC Official Full Name phosphotriesterase relatedprovided by HGNC Primary source HGNC:HGNC:9590 See related Ensembl:ENSG00000165983 MIM:604446; AllianceGenome:HGNC:9590 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 HPHRP; RPR-1 Summary Predicted to enable hydrolase activity, acting on ester bonds and zinc ion binding activity. Involved in epithelial cell differentiation. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 11.0), brain (RPKM 10.8) and 25 other tissues See more Orthologs mouse all
PTF1A, Official Symbol PTF1Aprovided by HGNC Official Full Name pancreas associated transcription factor 1aprovided by HGNC Primary source HGNC:HGNC:23734 See related Ensembl:ENSG00000168267 MIM:607194; AllianceGenome:HGNC:23734 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 p48; PACA; PAGEN2; bHLHa29; PTF1-p48 Summary This gene encodes a protein that is a component of the pancreas transcription factor 1 complex (PTF1) and is known to have a role in mammalian pancreatic development. The protein plays a role in determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. The protein is thought to be involved in the maintenance of exocrine pancreas-specific gene expression including elastase 1 and amylase. Mutations in this gene cause cerebellar agenesis and loss of expression is seen in ductal type pancreas cancers. [provided by RefSeq, Jul 2008] Expression Biased expression in pancreas (RPKM 4.5), testis (RPKM 0.5) and 1 other tissue See more Orthologs mouse all
PTGDR, Official Symbol PTGDRprovided by HGNC Official Full Name prostaglandin D2 receptorprovided by HGNC Primary source HGNC:HGNC:9591 See related Ensembl:ENSG00000168229 MIM:604687; AllianceGenome:HGNC:9591 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 DP; AS1; DP1; ASRT1; PTGDR1 Summary This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor (GPCR) superfamily. The receptors are seven-pass transmembrane proteins that respond to extracellular cues and activate intracellular signal transduction pathways. This protein is reported to be a receptor for prostaglandin D2, which is a mediator of allergic inflammation and allergic airway inflammation in asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Expression Broad expression in spleen (RPKM 1.6), colon (RPKM 1.3) and 19 other tissues See more Orthologs mouse all
PTGDR2, Official Symbol PTGDR2provided by HGNC Official Full Name prostaglandin D2 receptor 2provided by HGNC Primary source HGNC:HGNC:4502 See related Ensembl:ENSG00000183134 MIM:604837; AllianceGenome:HGNC:4502 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 DP2; DL1R; CD294; CRTH2; GPR44 Summary This gene encodes a G-protein-coupled receptor that is preferentially expressed in CD4+ effector T helper 2 (Th2) cells. This protein is a prostaglandin D2 receptor that mediates the pro-inflammatory chemotaxis of eosinophils, basophils, and Th2 lymphocytes generated during allergic inflammation. Single nucleotide polymorphisms in the 3' UTR of this gene have been associated with asthma susceptibility.[provided by RefSeq, Mar 2011] Expression Broad expression in stomach (RPKM 4.7), colon (RPKM 3.6) and 21 other tissues See more Orthologs mouse all
PTGDS, Official Symbol PTGDSprovided by HGNC Official Full Name prostaglandin D2 synthaseprovided by HGNC Primary source HGNC:HGNC:9592 See related Ensembl:ENSG00000107317 MIM:176803; AllianceGenome:HGNC:9592 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 PDS; PGD2; PGDS; LPGDS; PGDS2; L-PGDS Summary The protein encoded by this gene is a glutathione-independent prostaglandin D synthase that catalyzes the conversion of prostaglandin H2 (PGH2) to postaglandin D2 (PGD2). PGD2 functions as a neuromodulator as well as a trophic factor in the central nervous system. PGD2 is also involved in smooth muscle contraction/relaxation and is a potent inhibitor of platelet aggregation. This gene is preferentially expressed in brain. Studies with transgenic mice overexpressing this gene suggest that this gene may be also involved in the regulation of non-rapid eye movement sleep. [provided by RefSeq, Jul 2008] Expression Biased expression in testis (RPKM 1025.8), heart (RPKM 481.7) and 13 other tissues See more Orthologs mouse all
PTGER1, Official Symbol PTGER1provided by HGNC Official Full Name prostaglandin E receptor 1provided by HGNC Primary source HGNC:HGNC:9593 See related Ensembl:ENSG00000160951 MIM:176802; AllianceGenome:HGNC:9593 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 EP1 Summary The protein encoded by this gene is a member of the G protein-coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). Through a phosphatidylinositol-calcium second messenger system, G-Q proteins mediate this receptor's activity. Knockout studies in mice suggested a role of this receptor in mediating algesia and in regulation of blood pressure. Studies in mice also suggested that this gene may mediate adrenocorticotropic hormone response to bacterial endotoxin. [provided by RefSeq, Jul 2008] Expression Biased expression in kidney (RPKM 4.8), spleen (RPKM 1.1) and 3 other tissues See more Orthologs mouse all
PTGER2, Official Symbol PTGER2provided by HGNC Official Full Name prostaglandin E receptor 2provided by HGNC Primary source HGNC:HGNC:9594 See related Ensembl:ENSG00000125384 MIM:176804; AllianceGenome:HGNC:9594 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 EP2 Summary This gene encodes a receptor for prostaglandin E2, a metabolite of arachidonic acid which has different biologic activities in a wide range of tissues. Mutations in this gene are associated with aspirin-induced susceptibility to asthma. [provided by RefSeq, Oct 2009] Expression Broad expression in bone marrow (RPKM 14.8), stomach (RPKM 7.9) and 19 other tissues See more Orthologs mouse all
PTGER3, Official Symbol PTGER3provided by HGNC Official Full Name prostaglandin E receptor 3provided by HGNC Primary source HGNC:HGNC:9595 See related Ensembl:ENSG00000050628 MIM:176806; AllianceGenome:HGNC:9595 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 EP3; EP3e; EP3-I; EP3-II; EP3-IV; EP3-VI; PGE2-R; EP3-III; lnc003875 Summary The protein encoded by this gene is a member of the G-protein coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). This receptor may have many biological functions, which involve digestion, nervous system, kidney reabsorption, and uterine contraction activities. Studies of the mouse counterpart suggest that this receptor may also mediate adrenocorticotropic hormone response as well as fever generation in response to exogenous and endogenous stimuli. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009] Expression Biased expression in endometrium (RPKM 21.7), kidney (RPKM 19.2) and 8 other tissues See more Orthologs mouse all
PTGER4, Official Symbol PTGER4provided by HGNC Official Full Name prostaglandin E receptor 4provided by HGNC Primary source HGNC:HGNC:9596 See related Ensembl:ENSG00000171522 MIM:601586; AllianceGenome:HGNC:9596 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 EP4; EP4R Summary The protein encoded by this gene is a member of the G-protein coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). This receptor can activate T-cell factor signaling. It has been shown to mediate PGE2 induced expression of early growth response 1 (EGR1), regulate the level and stability of cyclooxygenase-2 mRNA, and lead to the phosphorylation of glycogen synthase kinase-3. Knockout studies in mice suggest that this receptor may be involved in the neonatal adaptation of circulatory system, osteoporosis, as well as initiation of skin immune responses. [provided by RefSeq, Jul 2008] Expression Broad expression in bone marrow (RPKM 30.5), colon (RPKM 12.1) and 18 other tissues See more Orthologs mouse all
PTGER4P2-CDK2AP2P2, Official Symbol PTGER4P2-CDK2AP2P2provided by HGNC Official Full Name PTGER4P2-CDK2AP2P2 readthrough, transcribed pseudogeneprovided by HGNC Primary source HGNC:HGNC:44749 See related AllianceGenome:HGNC:44749 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This locus represents naturally-occurring readthrough transcription between two pseudogenes, PTGER4P2 (prostaglandin E receptor 4 pseudogene 2) and CDK2AP2P2 (cyclin-dependent kinase 2 associated protein 2 pseudogene 2). The individual pseudogene loci are not curated as transcribed regions. Readthrough transcripts likely do not encode functional proteins. [provided by RefSeq, Jan 2016] Expression Biased expression in spleen (RPKM 4.0), testis (RPKM 1.1) and 3 other tissues See more
PTGES, Official Symbol PTGESprovided by HGNC Official Full Name prostaglandin E synthaseprovided by HGNC Primary source HGNC:HGNC:9599 See related Ensembl:ENSG00000148344 MIM:605172; AllianceGenome:HGNC:9599 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 PGES; MPGES; PIG12; PP102; PP1294; MGST-IV; MGST1L1; TP53I12; mPGES-1; MGST1-L1 Summary The protein encoded by this gene is a glutathione-dependent prostaglandin E synthase. The expression of this gene has been shown to be induced by proinflammatory cytokine interleukin 1 beta (IL1B). Its expression can also be induced by tumor suppressor protein TP53, and may be involved in TP53 induced apoptosis. Knockout studies in mice suggest that this gene may contribute to the pathogenesis of collagen-induced arthritis and mediate acute pain during inflammatory responses. [provided by RefSeq, Jul 2008] Expression Biased expression in placenta (RPKM 28.7), urinary bladder (RPKM 13.8) and 12 other tissues See more Orthologs mouse all
PTGES2, Official Symbol PTGES2provided by HGNC Official Full Name prostaglandin E synthase 2provided by HGNC Primary source HGNC:HGNC:17822 See related Ensembl:ENSG00000148334 MIM:608152; AllianceGenome:HGNC:17822 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 GBF1; GBF-1; PGES2; C9orf15; mPGES-2 Summary The protein encoded by this gene is a membrane-associated prostaglandin E synthase, which catalyzes the conversion of prostaglandin H2 to prostaglandin E2. This protein also has been shown to activate the transcription regulated by a gamma-interferon-activated transcription element (GATE). Multiple transcript variants have been found for this gene. [provided by RefSeq, Jun 2009] Expression Ubiquitous expression in heart (RPKM 13.3), kidney (RPKM 10.1) and 25 other tissues See more Orthologs mouse all
PTGES2-AS1, Official Symbol PTGES2-AS1provided by HGNC Official Full Name PTGES2 antisense RNA 1 (head to head)provided by HGNC Primary source HGNC:HGNC:48711 See related Ensembl:ENSG00000232850 AllianceGenome:HGNC:48711 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
PTGES3, Official Symbol PTGES3provided by HGNC Official Full Name prostaglandin E synthase 3provided by HGNC Primary source HGNC:HGNC:16049 See related Ensembl:ENSG00000110958 MIM:607061; AllianceGenome:HGNC:16049 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 P23; TEBP; cPGES Summary This gene encodes an enzyme that converts prostaglandin endoperoxide H2 (PGH2) to prostaglandin E2 (PGE2). This protein functions as a co-chaperone with heat shock protein 90 (HSP90), localizing to response elements in DNA and disrupting transcriptional activation complexes. Alternative splicing results in multiple transcript variants. There are multiple pseudogenes of this gene on several different chromosomes. [provided by RefSeq, Feb 2016] Expression Ubiquitous expression in ovary (RPKM 50.6), endometrium (RPKM 43.3) and 25 other tissues See more Orthologs mouse all
PTGES3L, Official Symbol PTGES3Lprovided by HGNC Official Full Name prostaglandin E synthase 3 likeprovided by HGNC Primary source HGNC:HGNC:43943 See related Ensembl:ENSG00000267060 AllianceGenome:HGNC:43943 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 Hsp90 protein binding activity and chaperone binding activity. Predicted to be involved in chaperone-mediated protein complex assembly and protein folding. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in heart (RPKM 7.5), testis (RPKM 1.6) and 9 other tissues See more Orthologs mouse all
PTGES3L-AARSD1, Official Symbol PTGES3L-AARSD1provided by HGNC Official Full Name PTGES3L-AARSD1 readthroughprovided by HGNC Primary source HGNC:HGNC:43946 See related Ensembl:ENSG00000108825 AllianceGenome:HGNC:43946 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 This locus represents naturally occurring readthrough transcription between the neighboring PTGES3L (prostaglandin E synthase 3 (cytosolic)-like) and AARSD1(alanyl-tRNA synthetase domain containing 1) genes on chromosome 17. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, May 2012] Expression Broad expression in testis (RPKM 24.0), heart (RPKM 10.5) and 25 other tissues See more
PTGES3P4, Official Symbol PTGES3P4provided by HGNC Official Full Name prostaglandin E synthase 3 pseudogene 4provided by HGNC Primary source HGNC:HGNC:43825 See related Ensembl:ENSG00000236937 AllianceGenome:HGNC:43825 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PTGES3P5, Official Symbol PTGES3P5provided by HGNC Official Full Name prostaglandin E synthase 3 pseudogene 5provided by HGNC Primary source HGNC:HGNC:43826 See related Ensembl:ENSG00000234544 AllianceGenome:HGNC:43826 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PTGFR, Official Symbol PTGFRprovided by HGNC Official Full Name prostaglandin F receptorprovided by HGNC Primary source HGNC:HGNC:9600 See related Ensembl:ENSG00000122420 MIM:600563; AllianceGenome:HGNC:9600 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 FP Summary The protein encoded by this gene is member of the G-protein coupled receptor family. This protein is a receptor for prostaglandin F2-alpha (PGF2-alpha), which is known to be a potent luteolytic agent, and may also be involved in modulating intraocular pressure and smooth muscle contraction in uterus. Knockout studies in mice suggest that the interaction of PGF2-alpha with this receptor may initiate parturition in ovarian luteal cells and thus induce luteolysis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in endometrium (RPKM 7.8), urinary bladder (RPKM 5.1) and 16 other tissues See more Orthologs mouse all
PTGFRN, Official Symbol PTGFRNprovided by HGNC Official Full Name prostaglandin F2 receptor inhibitorprovided by HGNC Primary source HGNC:HGNC:9601 See related Ensembl:ENSG00000134247 MIM:601204; AllianceGenome:HGNC:9601 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 FPRP; CD315; EWI-F; CD9P-1; SMAP-6 Summary Predicted to be involved in myoblast fusion involved in skeletal muscle regeneration. Predicted to act upstream of or within lipid droplet organization. Located in cell surface. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in heart (RPKM 21.3), endometrium (RPKM 18.0) and 24 other tissues See more Orthologs mouse all
PTGIR, Official Symbol PTGIRprovided by HGNC Official Full Name prostaglandin I2 receptorprovided by HGNC Primary source HGNC:HGNC:9602 See related Ensembl:ENSG00000160013 MIM:600022; AllianceGenome:HGNC:9602 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 IP; PRIPR Summary The protein encoded by this gene is a member of the G-protein coupled receptor family 1 and has been shown to be a receptor for prostacyclin. Prostacyclin, the major product of cyclooxygenase in macrovascular endothelium, elicits a potent vasodilation and inhibition of platelet aggregation through binding to this receptor. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 50.8), placenta (RPKM 17.2) and 24 other tissues See more Orthologs mouse all
PTGIS, Official Symbol PTGISprovided by HGNC Official Full Name prostaglandin I2 synthaseprovided by HGNC Primary source HGNC:HGNC:9603 See related Ensembl:ENSG00000124212 MIM:601699; AllianceGenome:HGNC:9603 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 CYP8; PGIS; PTGI; CYP8A1 Summary This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to prostacyclin (prostaglandin I2), a potent vasodilator and inhibitor of platelet aggregation. An imbalance of prostacyclin and its physiological antagonist thromboxane A2 contribute to the development of myocardial infarction, stroke, and atherosclerosis. [provided by RefSeq, Jul 2008] Expression Broad expression in urinary bladder (RPKM 26.9), gall bladder (RPKM 23.0) and 16 other tissues See more Orthologs mouse all
PTGR1, Official Symbol PTGR1provided by HGNC Official Full Name prostaglandin reductase 1provided by HGNC Primary source HGNC:HGNC:18429 See related Ensembl:ENSG00000106853 MIM:601274; AllianceGenome:HGNC:18429 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 PGR1; DIG-1; ZADH3; LTB4DH Summary This gene encodes an enzyme that is involved in the inactivation of the chemotactic factor, leukotriene B4. The encoded protein specifically catalyzes the NADP+ dependent conversion of leukotriene B4 to 12-oxo-leukotriene B4. A pseudogene of this gene is found on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009] Expression Broad expression in liver (RPKM 118.8), small intestine (RPKM 109.3) and 18 other tissues See more Orthologs mouse all
PTGR2, Official Symbol PTGR2provided by HGNC Official Full Name prostaglandin reductase 2provided by HGNC Primary source HGNC:HGNC:20149 See related Ensembl:ENSG00000140043 MIM:608642; AllianceGenome:HGNC:20149 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 PGR2; ZADH1; HEL-S-298 Summary This gene encodes an enzyme involved in the metabolism of prostaglandins. The encoded protein catalyzes the NADPH-dependent conversion of 15-keto-prostaglandin E2 to 15-keto-13,14-dihydro-prostaglandin E2. This protein may also be involved in regulating activation of the peroxisome proliferator-activated receptor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] Expression Ubiquitous expression in heart (RPKM 10.6), thyroid (RPKM 9.3) and 24 other tissues See more Orthologs mouse all
PTGS1, Official Symbol PTGS1provided by HGNC Official Full Name prostaglandin-endoperoxide synthase 1provided by HGNC Primary source HGNC:HGNC:9604 See related Ensembl:ENSG00000095303 MIM:176805; AllianceGenome:HGNC:9604 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 COX1; COX3; PHS1; PCOX1; PES-1; PGHS1; PTGHS; PGG/HS; PGHS-1 Summary This is one of two genes encoding similar enzymes that catalyze the conversion of arachidonate to prostaglandin. The encoded protein regulates angiogenesis in endothelial cells, and is inhibited by nonsteroidal anti-inflammatory drugs such as aspirin. Based on its ability to function as both a cyclooxygenase and as a peroxidase, the encoded protein has been identified as a moonlighting protein. The protein may promote cell proliferation during tumor progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2021] Expression Biased expression in skin (RPKM 36.8), esophagus (RPKM 21.4) and 12 other tissues See more Orthologs mouse all
PTGS2, Official Symbol PTGS2provided by HGNC Official Full Name prostaglandin-endoperoxide synthase 2provided by HGNC Primary source HGNC:HGNC:9605 See related Ensembl:ENSG00000073756 MIM:600262; AllianceGenome:HGNC:9605 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 COX2; COX-2; PHS-2; PGG/HS; PGHS-2; hCox-2; GRIPGHS Summary Prostaglandin-endoperoxide synthase (PTGS), also known as cyclooxygenase, is the key enzyme in prostaglandin biosynthesis, and acts both as a dioxygenase and as a peroxidase. There are two isozymes of PTGS: a constitutive PTGS1 and an inducible PTGS2, which differ in their regulation of expression and tissue distribution. This gene encodes the inducible isozyme. It is regulated by specific stimulatory events, suggesting that it is responsible for the prostanoid biosynthesis involved in inflammation and mitogenesis. [provided by RefSeq, Feb 2009] Expression Biased expression in bone marrow (RPKM 59.3), urinary bladder (RPKM 41.1) and 11 other tissues See more Orthologs mouse all
PTH, Official Symbol PTHprovided by HGNC Official Full Name parathyroid hormoneprovided by HGNC Primary source HGNC:HGNC:9606 See related Ensembl:ENSG00000152266 MIM:168450; AllianceGenome:HGNC:9606 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 FIH1; PTH1 Summary This gene encodes a member of the parathyroid family of proteins. The encoded preproprotein is proteolytically processed to generate a protein that binds to the parathyroid hormone/parathyroid hormone-related peptide receptor and regulates blood calcium and phosphate levels. Excess production of the encoded protein, known as hyperparathyroidism, can result in hypercalcemia and kidney stones. On the other hand, defective processing of the encoded protein may lead to hypoparathyroidism, which can result in hypocalcemia and numbness. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] Expression Low expression observed in reference dataset See more Orthologs mouse all
PTH1R, Official Symbol PTH1Rprovided by HGNC Official Full Name parathyroid hormone 1 receptorprovided by HGNC Primary source HGNC:HGNC:9608 See related Ensembl:ENSG00000160801 MIM:168468; AllianceGenome:HGNC:9608 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 PFE; EKNS; PTHR; PTHR1 Summary The protein encoded by this gene is a member of the G-protein coupled receptor family 2. This protein is a receptor for parathyroid hormone (PTH) and for parathyroid hormone-like hormone (PTHLH). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system. Defects in this receptor are known to be the cause of Jansen's metaphyseal chondrodysplasia (JMC), chondrodysplasia Blomstrand type (BOCD), as well as enchodromatosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010] Expression Biased expression in kidney (RPKM 58.6), adrenal (RPKM 5.4) and 2 other tissues See more Orthologs mouse all
PTH2, Official Symbol PTH2provided by HGNC Official Full Name parathyroid hormone 2provided by HGNC Primary source HGNC:HGNC:30828 See related Ensembl:ENSG00000142538 MIM:608386; AllianceGenome:HGNC:30828 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 TIP39 Summary This gene encodes the precursor of a peptide hormone that shares sequence similarity with the parathyroid hormone. This gene is expressed in various regions of the brain where it plays a role in the release of pituitary hormones, anxiety and nociception. The encoded precursor protein is proteolytically processed to generate the biologically active neuropeptide. [provided by RefSeq, Jul 2015] Orthologs mouse all
PTH2R, Official Symbol PTH2Rprovided by HGNC Official Full Name parathyroid hormone 2 receptorprovided by HGNC Primary source HGNC:HGNC:9609 See related Ensembl:ENSG00000144407 MIM:601469; AllianceGenome:HGNC:9609 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 PTHR2 Summary The protein encoded by this gene is a member of the G-protein coupled receptor 2 family. This protein is a receptor for parathyroid hormone (PTH). This receptor is more selective in ligand recognition and has a more specific tissue distribution compared to parathyroid hormone receptor 1 (PTHR1). It is activated only by PTH and not by parathyroid hormone-like hormone (PTHLH) and is particularly abundant in brain and pancreas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] Expression Biased expression in bone marrow (RPKM 1.3), salivary gland (RPKM 0.8) and 10 other tissues See more Orthologs mouse all
PTHLH, Official Symbol PTHLHprovided by HGNC Official Full Name parathyroid hormone like hormoneprovided by HGNC Primary source HGNC:HGNC:9607 See related Ensembl:ENSG00000087494 MIM:168470; AllianceGenome:HGNC:9607 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 HHM; PLP; BDE2; PTHR; PTHRP Summary The protein encoded by this gene is a member of the parathyroid hormone family. This hormone, via its receptor, PTHR1, regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth. It is responsible for most cases of humoral hypercalcemia of malignancy, and mutations in this gene are associated with brachydactyly type E2 (BDE2). Alternatively spliced transcript variants have been found for this gene. There is also evidence for alternative translation initiation from non-AUG (CUG and GUG) start sites, downstream of the initiator AUG codon, resulting in nuclear forms of this hormone. [provided by RefSeq, Nov 2013] Expression Broad expression in esophagus (RPKM 1.7), endometrium (RPKM 1.5) and 19 other tissues See more Orthologs mouse all
PTK2, Official Symbol PTK2provided by HGNC Official Full Name protein tyrosine kinase 2provided by HGNC Primary source HGNC:HGNC:9611 See related Ensembl:ENSG00000169398 MIM:600758; AllianceGenome:HGNC:9611 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 FAK; FADK; FAK1; FRNK; FADK 1; PPP1R71; p125FAK; pp125FAK Summary This gene encodes a cytoplasmic protein tyrosine kinase which is found concentrated in the focal adhesions that form between cells growing in the presence of extracellular matrix constituents. The encoded protein is a member of the FAK subfamily of protein tyrosine kinases but lacks significant sequence similarity to kinases from other subfamilies. Activation of this gene may be an important early step in cell growth and intracellular signal transduction pathways triggered in response to certain neural peptides or to cell interactions with the extracellular matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2017] Expression Ubiquitous expression in brain (RPKM 21.7), placenta (RPKM 17.8) and 25 other tissues See more Orthologs mouse all
PTK2B, Official Symbol PTK2Bprovided by HGNC Official Full Name protein tyrosine kinase 2 betaprovided by HGNC Primary source HGNC:HGNC:9612 See related Ensembl:ENSG00000120899 MIM:601212; AllianceGenome:HGNC:9612 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 PKB; PTK; CAKB; FAK2; PYK2; CADTK; FADK2; RAFTK Summary This gene encodes a cytoplasmic protein tyrosine kinase which is involved in calcium-induced regulation of ion channels and activation of the map kinase signaling pathway. The encoded protein may represent an important signaling intermediate between neuropeptide-activated receptors or neurotransmitters that increase calcium flux and the downstream signals that regulate neuronal activity. The encoded protein undergoes rapid tyrosine phosphorylation and activation in response to increases in the intracellular calcium concentration, nicotinic acetylcholine receptor activation, membrane depolarization, or protein kinase C activation. This protein has been shown to bind CRK-associated substrate, nephrocystin, GTPase regulator associated with FAK, and the SH2 domain of GRB2. The encoded protein is a member of the FAK subfamily of protein tyrosine kinases but lacks significant sequence similarity to kinases from other subfamilies. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in lymph node (RPKM 29.2), bone marrow (RPKM 29.0) and 24 other tissues See more Orthologs mouse all
PTK6, Official Symbol PTK6provided by HGNC Official Full Name protein tyrosine kinase 6provided by HGNC Primary source HGNC:HGNC:9617 See related Ensembl:ENSG00000101213 MIM:602004; AllianceGenome:HGNC:9617 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 BRK Summary The protein encoded by this gene is a cytoplasmic nonreceptor protein kinase which may function as an intracellular signal transducer in epithelial tissues. Overexpression of this gene in mammary epithelial cells leads to sensitization of the cells to epidermal growth factor and results in a partially transformed phenotype. Expression of this gene has been detected at low levels in some breast tumors but not in normal breast tissue. The encoded protein has been shown to undergo autophosphorylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012] Expression Biased expression in esophagus (RPKM 27.3), skin (RPKM 21.0) and 9 other tissues See more Orthologs mouse all