psui3905/ncbi_genes_summary huggingface dataset:
PDE10A, Official Symbol PDE10Aprovided by HGNC Official Full Name phosphodiesterase 10Aprovided by HGNC Primary source HGNC:HGNC:8772 See related Ensembl:ENSG00000112541 MIM:610652; AllianceGenome:HGNC:8772 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 ADSD2; IOLOD; HSPDE10A; PDE10A19; LINC00473 Summary The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase family. It plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. This protein can hydrolyze both cAMP and cGMP to the corresponding nucleoside 5' monophosphate, but has higher affinity for cAMP, and is more efficient with cAMP as substrate. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2011] Expression Broad expression in thyroid (RPKM 3.6), urinary bladder (RPKM 2.0) and 16 other tissues See more Orthologs mouse all
PDE11A, Official Symbol PDE11Aprovided by HGNC Official Full Name phosphodiesterase 11Aprovided by HGNC Primary source HGNC:HGNC:8773 See related Ensembl:ENSG00000128655 MIM:604961; AllianceGenome:HGNC:8773 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 PPNAD2 Summary The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a member of the PDE protein superfamily. Mutations in this gene are a cause of Cushing disease and adrenocortical hyperplasia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in prostate (RPKM 3.1), fat (RPKM 1.5) and 11 other tissues See more Orthologs mouse all
PDE11A-AS1, Official Symbol PDE11A-AS1provided by HGNC Official Full Name PDE11A antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40433 See related Ensembl:ENSG00000229941 AllianceGenome:HGNC:40433 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
PDE12, Official Symbol PDE12provided by HGNC Official Full Name phosphodiesterase 12provided by HGNC Primary source HGNC:HGNC:25386 See related Ensembl:ENSG00000174840 MIM:616519; AllianceGenome:HGNC:25386 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 2-PDE; 2'-PDE Summary Enables 3'-5'-exoribonuclease activity. Involved in several processes, including RNA metabolic process; cellular response to cytokine stimulus; and regulation of mitochondrial mRNA stability. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 3.9), thyroid (RPKM 3.9) and 25 other tissues See more Orthologs mouse all
PDE1A, Official Symbol PDE1Aprovided by HGNC Official Full Name phosphodiesterase 1Aprovided by HGNC Primary source HGNC:HGNC:8774 See related Ensembl:ENSG00000115252 MIM:171890; AllianceGenome:HGNC:8774 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 HCAM1; HCAM-1; HSPDE1A; CAM-PDE 1A; CAM-PDE-1A Summary Cyclic nucleotide phosphodiesterases (PDEs) play a role in signal transduction by regulating intracellular cyclic nucleotide concentrations through hydrolysis of cAMP and/or cGMP to their respective nucleoside 5-prime monophosphates. Members of the PDE1 family, such as PDE1A, are Ca(2+)/calmodulin (see CALM1; MIM 114180)-dependent PDEs (CaM-PDEs) that are activated by calmodulin in the presence of Ca(2+) (Michibata et al., 2001 [PubMed 11342109]; Fidock et al., 2002 [PubMed 11747989]).[supplied by OMIM, Oct 2009] Expression Broad expression in thyroid (RPKM 7.4), brain (RPKM 6.5) and 18 other tissues See more Orthologs mouse all
PDE1B, Official Symbol PDE1Bprovided by HGNC Official Full Name phosphodiesterase 1Bprovided by HGNC Primary source HGNC:HGNC:8775 See related Ensembl:ENSG00000123360 MIM:171891; AllianceGenome:HGNC:8775 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 PDE1B1; PDES1B; HEL-S-79p Summary The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE1 subfamily. Members of the PDE1 family are calmodulin-dependent PDEs that are stimulated by a calcium-calmodulin complex. This PDE has dual-specificity for the second messengers, cAMP and cGMP, with a preference for cGMP as a substrate. cAMP and cGMP function as key regulators of many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011] Expression Broad expression in brain (RPKM 8.5), fat (RPKM 6.8) and 19 other tissues See more Orthologs mouse all
PDE1C, Official Symbol PDE1Cprovided by HGNC Official Full Name phosphodiesterase 1Cprovided by HGNC Primary source HGNC:HGNC:8776 See related Ensembl:ENSG00000154678 MIM:602987; AllianceGenome:HGNC:8776 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 Hcam3; DFNA74; hCam-3; cam-PDE 1C Summary This gene encodes an enzyme that belongs to the 3'5'-cyclic nucleotide phosphodiesterase family. Members of this family catalyze hydrolysis of the cyclic nucleotides, cyclic adenosine monophosphate and cyclic guanosine monophosphate, to the corresponding nucleoside 5'-monophosphates. The enzyme encoded by this gene regulates proliferation and migration of vascular smooth muscle cells, and neointimal hyperplasia. This enzyme also plays a role in pathological vascular remodeling by regulating the stability of growth factor receptors, such as PDGF-receptor-beta. [provided by RefSeq, Jul 2016] Expression Biased expression in heart (RPKM 9.1), brain (RPKM 4.0) and 12 other tissues See more Orthologs mouse all
PDE2A, Official Symbol PDE2Aprovided by HGNC Official Full Name phosphodiesterase 2Aprovided by HGNC Primary source HGNC:HGNC:8777 See related Ensembl:ENSG00000186642 MIM:602658; AllianceGenome:HGNC:8777 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 PDE2A1; PED2A4; cGSPDE; CGS-PDE; IDDPADS Summary Enables several functions, including 3',5'-cyclic-nucleotide phosphodiesterase activity; anion binding activity; and metal ion binding activity. Involved in several processes, including cellular response to organic cyclic compound; cyclic-nucleotide-mediated signaling; and regulation of vascular permeability. Located in several cellular components, including cytosol; mitochondrial membrane; and perinuclear region of cytoplasm. Colocalizes with plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in spleen (RPKM 45.0), brain (RPKM 27.8) and 14 other tissues See more Orthologs mouse all
PDE3A, Official Symbol PDE3Aprovided by HGNC Official Full Name phosphodiesterase 3Aprovided by HGNC Primary source HGNC:HGNC:8778 See related Ensembl:ENSG00000172572 MIM:123805; AllianceGenome:HGNC:8778 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 HTNB; CGI-PDE; CGI-PDE A; CGI-PDE-A Summary This gene encodes a member of the cGMP-inhibited cyclic nucleotide phosphodiesterase (cGI-PDE) family. cGI-PDE enzymes hydrolyze both cAMP and cGMP, and play critical roles in many cellular processes by regulating the amplitude and duration of intracellular cyclic nucleotide signals. The encoded protein mediates platelet aggregation and also plays important roles in cardiovascular function by regulating vascular smooth muscle contraction and relaxation. Inhibitors of the encoded protein may be effective in treating congestive heart failure. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011] Expression Broad expression in heart (RPKM 15.7), placenta (RPKM 7.2) and 17 other tissues See more Orthologs mouse all
PDE3B, Official Symbol PDE3Bprovided by HGNC Official Full Name phosphodiesterase 3Bprovided by HGNC Primary source HGNC:HGNC:8779 See related Ensembl:ENSG00000152270 MIM:602047; AllianceGenome:HGNC:8779 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 HcGIP1; cGIPDE1 Summary Enables 3',5'-cyclic-nucleotide phosphodiesterase activity. Involved in negative regulation of angiogenesis; negative regulation of cell adhesion; and negative regulation of lipid catabolic process. Located in membrane. Part of guanyl-nucleotide exchange factor complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in fat (RPKM 53.0), lymph node (RPKM 8.6) and 12 other tissues See more Orthologs mouse all
PDE4A, Official Symbol PDE4Aprovided by HGNC Official Full Name phosphodiesterase 4Aprovided by HGNC Primary source HGNC:HGNC:8780 See related Ensembl:ENSG00000065989 MIM:600126; AllianceGenome:HGNC:8780 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 PDE4; DPDE2; PDE46 Summary The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE4 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011] Expression Ubiquitous expression in testis (RPKM 5.3), brain (RPKM 5.3) and 24 other tissues See more Orthologs mouse all
PDE4B, Official Symbol PDE4Bprovided by HGNC Official Full Name phosphodiesterase 4Bprovided by HGNC Primary source HGNC:HGNC:8781 See related Ensembl:ENSG00000184588 MIM:600127; AllianceGenome:HGNC:8781 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 DPDE4; PDEIVB Summary This gene is a member of the type IV, cyclic AMP (cAMP)-specific, cyclic nucleotide phosphodiesterase (PDE) family. The encoded protein regulates the cellular concentrations of cyclic nucleotides and thereby play a role in signal transduction. Altered activity of this protein has been associated with schizophrenia and bipolar affective disorder. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014] Expression Broad expression in bone marrow (RPKM 18.7), brain (RPKM 17.6) and 22 other tissues See more Orthologs mouse all
PDE4B-AS1, Official Symbol PDE4B-AS1provided by HGNC Official Full Name PDE4B antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40437 See related Ensembl:ENSG00000227466 AllianceGenome:HGNC:40437 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
PDE4C, Official Symbol PDE4Cprovided by HGNC Official Full Name phosphodiesterase 4Cprovided by HGNC Primary source HGNC:HGNC:8782 See related Ensembl:ENSG00000105650 MIM:600128; AllianceGenome:HGNC:8782 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 DPDE1; PDE21 Summary The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE4 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011] Expression Broad expression in placenta (RPKM 1.5), endometrium (RPKM 1.5) and 20 other tissues See more Orthologs mouse all
PDE4D, Official Symbol PDE4Dprovided by HGNC Official Full Name phosphodiesterase 4Dprovided by HGNC Primary source HGNC:HGNC:8783 See related Ensembl:ENSG00000113448 MIM:600129; AllianceGenome:HGNC:8783 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 DPDE3; PDE43; STRK1; ACRDYS2; HSPDE4D; PDE4DN2 Summary This gene encodes one of four mammalian counterparts to the fruit fly 'dunce' gene. The encoded protein has 3',5'-cyclic-AMP phosphodiesterase activity and degrades cAMP, which acts as a signal transduction molecule in multiple cell types. This gene uses different promoters to generate multiple alternatively spliced transcript variants that encode functional proteins.[provided by RefSeq, Sep 2009] Expression Broad expression in bone marrow (RPKM 7.8), lung (RPKM 3.1) and 20 other tissues See more Orthologs mouse all
PDE4DIP, Official Symbol PDE4DIPprovided by HGNC Official Full Name phosphodiesterase 4D interacting proteinprovided by HGNC Primary source HGNC:HGNC:15580 See related Ensembl:ENSG00000178104 MIM:608117; AllianceGenome:HGNC:15580 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 MMGL; CMYA2 Summary The protein encoded by this gene serves to anchor phosphodiesterase 4D to the Golgi/centrosome region of the cell. Defects in this gene may be a cause of myeloproliferative disorder (MBD) associated with eosinophilia. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010] Expression Biased expression in heart (RPKM 86.3), brain (RPKM 18.4) and 10 other tissues See more Orthologs all
PDE4DIPP4, Official Symbol PDE4DIPP4provided by HGNC Official Full Name PDE4DIP pseudogene 4provided by HGNC Primary source HGNC:HGNC:55083 See related Ensembl:ENSG00000290904 AllianceGenome:HGNC:55083 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CH17-118O6.3 Expression Broad expression in testis (RPKM 1.8), bone marrow (RPKM 1.0) and 24 other tissues See more
PDE4DIPP6, Official Symbol PDE4DIPP6provided by HGNC Official Full Name PDE4DIP pseudogene 6provided by HGNC Primary source HGNC:HGNC:55097 See related Ensembl:ENSG00000291232 AllianceGenome:HGNC:55097 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Broad expression in testis (RPKM 1.5), brain (RPKM 0.9) and 22 other tissues See more
PDE4DIPP7, Official Symbol PDE4DIPP7provided by HGNC Official Full Name PDE4DIP pseudogene 7provided by HGNC Primary source HGNC:HGNC:55098 See related AllianceGenome:HGNC:55098 Gene type pseudo RefSeq status MODEL 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
PDE4DIPP8, Official Symbol PDE4DIPP8provided by HGNC Official Full Name PDE4DIP pseudogene 8provided by HGNC Primary source HGNC:HGNC:55099 See related AllianceGenome:HGNC:55099 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PDE5A, Official Symbol PDE5Aprovided by HGNC Official Full Name phosphodiesterase 5Aprovided by HGNC Primary source HGNC:HGNC:8784 See related Ensembl:ENSG00000138735 MIM:603310; AllianceGenome:HGNC:8784 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 CN5A; PDE5; CGB-PDE Summary This gene encodes a cGMP-binding, cGMP-specific phosphodiesterase, a member of the cyclic nucleotide phosphodiesterase family. This phosphodiesterase specifically hydrolyzes cGMP to 5'-GMP. It is involved in the regulation of intracellular concentrations of cyclic nucleotides and is important for smooth muscle relaxation in the cardiovascular system. Alternative splicing of this gene results in three transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] Expression Broad expression in prostate (RPKM 31.5), esophagus (RPKM 20.9) and 20 other tissues See more Orthologs mouse all
PDE6A, Official Symbol PDE6Aprovided by HGNC Official Full Name phosphodiesterase 6Aprovided by HGNC Primary source HGNC:HGNC:8785 See related Ensembl:ENSG00000132915 MIM:180071; AllianceGenome:HGNC:8785 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 PDEA; RP43; CGPR-A Summary This gene encodes the cyclic-GMP (cGMP)-specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits. cGMP is an important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and guanylate cyclase cGMP synthesis. The protein is a subunit of a key phototransduction enzyme and participates in processes of transmission and amplification of the visual signal. Mutations in this gene have been identified as one cause of autosomal recessive retinitis pigmentosa. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
PDE6B, Official Symbol PDE6Bprovided by HGNC Official Full Name phosphodiesterase 6Bprovided by HGNC Primary source HGNC:HGNC:8786 See related Ensembl:ENSG00000133256 MIM:180072; AllianceGenome:HGNC:8786 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 rd1; PDEB; RP40; CSNB3; CSNBAD2; GMP-PDEbeta Summary Photon absorption triggers a signaling cascade in rod photoreceptors that activates cGMP phosphodiesterase (PDE), resulting in the rapid hydrolysis of cGMP, closure of cGMP-gated cation channels, and hyperpolarization of the cell. PDE is a peripheral membrane heterotrimeric enzyme made up of alpha, beta, and gamma subunits. This gene encodes the beta subunit. Mutations in this gene result in retinitis pigmentosa and autosomal dominant congenital stationary night blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009] Expression Broad expression in brain (RPKM 2.0), thyroid (RPKM 1.1) and 19 other tissues See more Orthologs mouse all
PDE6B-AS1, Official Symbol PDE6B-AS1provided by HGNC Official Full Name PDE6B antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40438 See related AllianceGenome:HGNC:40438 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in brain (RPKM 1.2), testis (RPKM 0.6) and 9 other tissues See more
PDE6C, Official Symbol PDE6Cprovided by HGNC Official Full Name phosphodiesterase 6Cprovided by HGNC Primary source HGNC:HGNC:8787 See related Ensembl:ENSG00000095464 MIM:600827; AllianceGenome:HGNC:8787 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 COD4; ACHM5; PDEA2 Summary This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010] Expression Low expression observed in reference dataset See more Orthologs mouse all
PDE6D, Official Symbol PDE6Dprovided by HGNC Official Full Name phosphodiesterase 6Dprovided by HGNC Primary source HGNC:HGNC:8788 See related Ensembl:ENSG00000156973 MIM:602676; AllianceGenome:HGNC:8788 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 PDED; JBTS22 Summary This gene encodes the delta subunit of rod-specific photoreceptor phosphodiesterase (PDE), a key enzyme in the phototransduction cascade. A similar protein in cow functions in solubilizing membrane-bound PDE. In addition to its role in the PDE complex, the encoded protein is thought to bind to prenyl groups of proteins to target them to subcellular organelles called cilia. Mutations in this gene are associated with Joubert syndrome-22. Alternative splicing results in multiple splice variants. [provided by RefSeq, Mar 2014] Expression Ubiquitous expression in testis (RPKM 13.2), brain (RPKM 8.3) and 24 other tissues See more Orthologs mouse all
PDE6G, Official Symbol PDE6Gprovided by HGNC Official Full Name phosphodiesterase 6Gprovided by HGNC Primary source HGNC:HGNC:8789 See related Ensembl:ENSG00000185527 MIM:180073; AllianceGenome:HGNC:8789 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 PDEG; RP57 Summary This gene encodes the gamma subunit of cyclic GMP-phosphodiesterase, which is composed of alpha- and beta- catalytic subunits and two identical, inhibitory gamma subunits. This gene is expressed in rod photoreceptors and functions in the phototransduction signaling cascade. It is also expressed in a variety of other tissues, and has been shown to regulate the c-Src protein kinase and G-protein-coupled receptor kinase 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009] Expression Biased expression in spleen (RPKM 3.3), lymph node (RPKM 1.9) and 12 other tissues See more Orthologs mouse all
PDE6H, Official Symbol PDE6Hprovided by HGNC Official Full Name phosphodiesterase 6Hprovided by HGNC Primary source HGNC:HGNC:8790 See related Ensembl:ENSG00000139053 MIM:601190; AllianceGenome:HGNC:8790 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 RCD3; ACHM6 Summary This gene encodes the inhibitory (or gamma) subunit of the cone-specific cGMP phosphodiesterase, which is a tetramer composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma). It is specifically expressed in the retina, and is involved in the transmission and amplification of the visual signal. Mutations in this gene are associated with retinal cone dystrophy type 3A (RCD3A). [provided by RefSeq, Mar 2010] Expression Low expression observed in reference dataset See more Orthologs mouse all
PDE7A, Official Symbol PDE7Aprovided by HGNC Official Full Name phosphodiesterase 7Aprovided by HGNC Primary source HGNC:HGNC:8791 See related Ensembl:ENSG00000205268 MIM:171885; AllianceGenome:HGNC:8791 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 HCP1; PDE7 Summary The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE7 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2011] Expression Broad expression in lymph node (RPKM 14.6), appendix (RPKM 7.7) and 23 other tissues See more Orthologs mouse all
PDE7B, Official Symbol PDE7Bprovided by HGNC Official Full Name phosphodiesterase 7Bprovided by HGNC Primary source HGNC:HGNC:8792 See related Ensembl:ENSG00000171408 MIM:604645; AllianceGenome:HGNC:8792 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 bA472E5.1 Summary The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a cAMP-specific phosphodiesterase, a member of the cyclic nucleotide phosphodiesterase family.[provided by RefSeq, Apr 2009] Expression Ubiquitous expression in ovary (RPKM 3.7), endometrium (RPKM 2.5) and 22 other tissues See more Orthologs mouse all
PDE8A, Official Symbol PDE8Aprovided by HGNC Official Full Name phosphodiesterase 8Aprovided by HGNC Primary source HGNC:HGNC:8793 See related Ensembl:ENSG00000073417 MIM:602972; AllianceGenome:HGNC:8793 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 HsT19550 Summary The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE8 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011] Expression Ubiquitous expression in colon (RPKM 9.5), kidney (RPKM 8.2) and 25 other tissues See more Orthologs mouse all
PDE8B, Official Symbol PDE8Bprovided by HGNC Official Full Name phosphodiesterase 8Bprovided by HGNC Primary source HGNC:HGNC:8794 See related Ensembl:ENSG00000113231 MIM:603390; AllianceGenome:HGNC:8794 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 ADSD; PPNAD3 Summary The protein encoded by this gene is a cyclic nucleotide phosphodiesterase (PDE) that catalyzes the hydrolysis of the second messenger cAMP. The encoded protein, which does not hydrolyze cGMP, is resistant to several PDE inhibitors. Defects in this gene are a cause of autosomal dominant striatal degeneration (ADSD). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010] Expression Biased expression in thyroid (RPKM 82.4), brain (RPKM 15.1) and 5 other tissues See more Orthologs mouse all
PDE9A, Official Symbol PDE9Aprovided by HGNC Official Full Name phosphodiesterase 9Aprovided by HGNC Primary source HGNC:HGNC:8795 See related Ensembl:ENSG00000160191 MIM:602973; AllianceGenome:HGNC:8795 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 HSPDE9A2 Summary The protein encoded by this gene catalyzes the hydrolysis of cAMP and cGMP to their corresponding monophosphates. The encoded protein plays a role in signal transduction by regulating the intracellular concentration of these cyclic nucleotides. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in colon (RPKM 12.5), prostate (RPKM 9.8) and 17 other tissues See more Orthologs mouse all
PDE9A-AS1, Official Symbol PDE9A-AS1provided by HGNC Official Full Name PDE9A antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40440 See related Ensembl:ENSG00000225731 AllianceGenome:HGNC:40440 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
PDF, Official Symbol PDFprovided by HGNC Official Full Name peptide deformylase, mitochondrialprovided by HGNC Primary source HGNC:HGNC:30012 See related Ensembl:ENSG00000258429 MIM:618720; AllianceGenome:HGNC:30012 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 Protein synthesis proceeds after formylation of methionine by methionyl-tRNA formyl transferase (FMT) and transfer of the charged initiator f-met tRNA to the ribosome. In eubacteria and eukaryotic organelles the product of this gene, peptide deformylase (PDF), removes the formyl group from the initiating methionine of nascent peptides. In eubacteria, deformylation of nascent peptides is required for subsequent cleavage of initiating methionines by methionine aminopeptidase. The discovery that a natural inhibitor of PDF, actinonin, acts as an antimicrobial agent in some bacteria has spurred intensive research into the design of bacterial-specific PDF inhibitors. In human cells, only mitochondrial proteins have N-formylation of initiating methionines. Protein inhibitors of PDF or siRNAs of PDF block the growth of cancer cell lines but have no effect on normal cell growth. In humans, PDF function may therefore be restricted to rapidly growing cells. [provided by RefSeq, Nov 2008] Expression Ubiquitous expression in kidney (RPKM 13.2), testis (RPKM 10.1) and 25 other tissues See more Orthologs mouse all
PDGFA, Official Symbol PDGFAprovided by HGNC Official Full Name platelet derived growth factor subunit Aprovided by HGNC Primary source HGNC:HGNC:8799 See related Ensembl:ENSG00000197461 MIM:173430; AllianceGenome:HGNC:8799 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 PDGF1; PDGF-A Summary This gene encodes a member of the protein family comprised of both platelet-derived growth factors (PDGF) and vascular endothelial growth factors (VEGF). The encoded preproprotein is proteolytically processed to generate platelet-derived growth factor subunit A, which can homodimerize, or alternatively, heterodimerize with the related platelet-derived growth factor subunit B. These proteins bind and activate PDGF receptor tyrosine kinases, which play a role in a wide range of developmental processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] Expression Ubiquitous expression in lung (RPKM 8.8), placenta (RPKM 8.7) and 24 other tissues See more Orthologs mouse all
PDGFB, Official Symbol PDGFBprovided by HGNC Official Full Name platelet derived growth factor subunit Bprovided by HGNC Primary source HGNC:HGNC:8800 See related Ensembl:ENSG00000100311 MIM:190040; AllianceGenome:HGNC:8800 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 SIS; SSV; IBGC5; PDGF2; c-sis; PDGF-2 Summary This gene encodes a member of the protein family comprised of both platelet-derived growth factors (PDGF) and vascular endothelial growth factors (VEGF). The encoded preproprotein is proteolytically processed to generate platelet-derived growth factor subunit B, which can homodimerize, or alternatively, heterodimerize with the related platelet-derived growth factor subunit A. These proteins bind and activate PDGF receptor tyrosine kinases, which play a role in a wide range of developmental processes. Mutations in this gene are associated with meningioma. Reciprocal translocations between chromosomes 22 and 17, at sites where this gene and that for collagen type 1, alpha 1 are located, are associated with dermatofibrosarcoma protuberans, a rare skin tumor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] Expression Broad expression in placenta (RPKM 18.6), fat (RPKM 12.7) and 23 other tissues See more Orthologs mouse all
PDGFC, Official Symbol PDGFCprovided by HGNC Official Full Name platelet derived growth factor Cprovided by HGNC Primary source HGNC:HGNC:8801 See related Ensembl:ENSG00000145431 MIM:608452; AllianceGenome:HGNC:8801 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 SCDGF; FALLOTEIN Summary The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a core motif of eight cysteines. This gene product appears to form only homodimers. It differs from the platelet-derived growth factor alpha and beta polypeptides in having an unusual N-terminal domain, the CUB domain. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2010] Expression Ubiquitous expression in endometrium (RPKM 16.6), prostate (RPKM 13.9) and 24 other tissues See more Orthologs mouse all
PDGFD, Official Symbol PDGFDprovided by HGNC Official Full Name platelet derived growth factor Dprovided by HGNC Primary source HGNC:HGNC:30620 See related Ensembl:ENSG00000170962 MIM:609673; AllianceGenome:HGNC:30620 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 IEGF; SCDGFB; MSTP036; SCDGF-B Summary The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a core motif of eight cysteines, seven of which are found in this factor. This gene product only forms homodimers and, therefore, does not dimerize with the other three family members. It differs from alpha and beta members of this family in having an unusual N-terminal domain, the CUB domain. Two splice variants have been identified for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in adrenal (RPKM 66.8), ovary (RPKM 41.5) and 13 other tissues See more Orthologs mouse all
PDGFRA, Official Symbol PDGFRAprovided by HGNC Official Full Name platelet derived growth factor receptor alphaprovided by HGNC Primary source HGNC:HGNC:8803 See related Ensembl:ENSG00000134853 MIM:173490; AllianceGenome:HGNC:8803 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 CD140A; PDGFR2; PDGFR-2 Summary This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. Studies suggest that this gene plays a role in organ development, wound healing, and tumor progression. Mutations in this gene have been associated with idiopathic hypereosinophilic syndrome, somatic and familial gastrointestinal stromal tumors, and a variety of other cancers. [provided by RefSeq, Mar 2012] Expression Ubiquitous expression in ovary (RPKM 74.4), brain (RPKM 24.8) and 20 other tissues See more Orthologs mouse all
PDGFRB, Official Symbol PDGFRBprovided by HGNC Official Full Name platelet derived growth factor receptor betaprovided by HGNC Primary source HGNC:HGNC:8804 See related Ensembl:ENSG00000113721 MIM:173410; AllianceGenome:HGNC:8804 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 IMF1; KOGS; IBGC4; JTK12; PDGFR; PENTT; CD140B; PDGFR1; PDGFR-1 Summary The protein encoded by this gene is a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer (PDGFB or PDGFD) or a heterodimer (PDGFA and PDGFB). This gene is essential for normal development of the cardiovascular system and aids in rearrangement of the actin cytoskeleton. This gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulating factor and macrophage-colony stimulating factor receptor; all three genes may be implicated in the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses this gene to that of the ETV6 gene, results in chronic myeloproliferative disorder with eosinophilia. [provided by RefSeq, Aug 2017] Expression Broad expression in gall bladder (RPKM 79.5), placenta (RPKM 61.0) and 21 other tissues See more Orthologs mouse all
PDGFRL, Official Symbol PDGFRLprovided by HGNC Official Full Name platelet derived growth factor receptor likeprovided by HGNC Primary source HGNC:HGNC:8805 See related Ensembl:ENSG00000104213 MIM:604584; AllianceGenome:HGNC:8805 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 PDGRL; PRLTS Summary This gene encodes a protein with significant sequence similarity to the ligand binding domain of platelet-derived growth factor receptor beta. Mutations in this gene, or deletion of a chromosomal segment containing this gene, are associated with sporadic hepatocellular carcinomas, colorectal cancers, and non-small cell lung cancers. This suggests this gene product may function as a tumor suppressor. [provided by RefSeq, Jul 2008] Expression Broad expression in fat (RPKM 15.7), ovary (RPKM 15.2) and 16 other tissues See more Orthologs mouse all
PDGFRL2P, Official Symbol PDGFRL2Pprovided by HGNC Official Full Name platelet derived growth factor receptor like 2, pseudogeneprovided by HGNC Primary source HGNC:HGNC:54778 See related Ensembl:ENSG00000285420 AllianceGenome:HGNC:54778 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PDHA1, Official Symbol PDHA1provided by HGNC Official Full Name pyruvate dehydrogenase E1 subunit alpha 1provided by HGNC Primary source HGNC:HGNC:8806 See related Ensembl:ENSG00000131828 MIM:300502; AllianceGenome:HGNC:8806 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 PDHA; PDHAD; PHE1A; E1alpha; PDHCE1A Summary The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 alpha 1 subunit containing the E1 active site, and plays a key role in the function of the PDH complex. Mutations in this gene are associated with pyruvate dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010] Expression Ubiquitous expression in heart (RPKM 64.2), fat (RPKM 35.1) and 25 other tissues See more Orthologs mouse all
PDHA1P1, Official Symbol PDHA1P1provided by HGNC Official Full Name PDHA1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:44636 See related Ensembl:ENSG00000270772 AllianceGenome:HGNC:44636 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PDHA2, Official Symbol PDHA2provided by HGNC Official Full Name pyruvate dehydrogenase E1 subunit alpha 2provided by HGNC Primary source HGNC:HGNC:8807 See related Ensembl:ENSG00000163114 MIM:179061; AllianceGenome:HGNC:8807 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 PDHAL; SPGF70 Summary Enables pyruvate dehydrogenase (acetyl-transferring) activity. Involved in pyruvate metabolic process. Located in mitochondrion and nucleolus. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
PDHB, Official Symbol PDHBprovided by HGNC Official Full Name pyruvate dehydrogenase E1 subunit betaprovided by HGNC Primary source HGNC:HGNC:8808 See related Ensembl:ENSG00000168291 MIM:179060; AllianceGenome:HGNC:8808 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 PDHBD; PHE1B; E1beta; PDHE1B; PDHE1-B Summary The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and carbon dioxide, and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 beta subunit. Mutations in this gene are associated with pyruvate dehydrogenase E1-beta deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2012] Expression Ubiquitous expression in heart (RPKM 60.3), kidney (RPKM 43.5) and 25 other tissues See more Orthologs mouse all