psui3905/ncbi_genes_summary huggingface dataset:
PPP2R1B, Official Symbol PPP2R1Bprovided by HGNC Official Full Name protein phosphatase 2 scaffold subunit Abetaprovided by HGNC Primary source HGNC:HGNC:9303 See related Ensembl:ENSG00000137713 MIM:603113; AllianceGenome:HGNC:9303 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 PR65B; PP2A-Abeta Summary This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes a beta isoform of the constant regulatory subunit A. Mutations in this gene have been associated with some lung and colon cancers. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010] Expression Ubiquitous expression in testis (RPKM 13.7), fat (RPKM 13.4) and 25 other tissues See more Orthologs mouse all
PPP2R2A, Official Symbol PPP2R2Aprovided by HGNC Official Full Name protein phosphatase 2 regulatory subunit Balphaprovided by HGNC Primary source HGNC:HGNC:9304 See related Ensembl:ENSG00000221914 MIM:604941; AllianceGenome:HGNC:9304 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 B55A; PR52A; PR55A; B55ALPHA; PR55alpha Summary The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an alpha isoform of the regulatory subunit B55 subfamily. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010] Expression Ubiquitous expression in esophagus (RPKM 15.8), placenta (RPKM 12.6) and 25 other tissues See more Orthologs mouse all
PPP2R2B, Official Symbol PPP2R2Bprovided by HGNC Official Full Name protein phosphatase 2 regulatory subunit Bbetaprovided by HGNC Primary source HGNC:HGNC:9305 See related Ensembl:ENSG00000156475 MIM:604325; AllianceGenome:HGNC:9305 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 PR52B; SCA12; B55BETA; PR55BETA; PP2ABBETA; PP2APR55B; PR2ABBETA; PR55-BETA; PP2AB55BETA; PR2AB55BETA; PP2APR55BETA; PR2APR55BETA Summary The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta isoform of the regulatory subunit B55 subfamily. Defects in this gene cause autosomal dominant spinocerebellar ataxia 12 (SCA12), a disease caused by degeneration of the cerebellum, sometimes involving the brainstem and spinal cord, and in resulting in poor coordination of speech and body movements. Multiple alternatively spliced variants, which encode different isoforms, have been identified for this gene. The 5' UTR of some of these variants includes a CAG trinucleotide repeat sequence (7-28 copies) that can be expanded to 55-78 copies in cases of SCA12. [provided by RefSeq, Jul 2016] Expression Biased expression in brain (RPKM 31.7), testis (RPKM 4.4) and 3 other tissues See more Orthologs mouse all
PPP2R2B-IT1, Official Symbol PPP2R2B-IT1provided by HGNC Official Full Name PPP2R2B intronic transcript 1provided by HGNC Primary source HGNC:HGNC:42984 See related Ensembl:ENSG00000249553 AllianceGenome:HGNC:42984 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
PPP2R2C, Official Symbol PPP2R2Cprovided by HGNC Official Full Name protein phosphatase 2 regulatory subunit Bgammaprovided by HGNC Primary source HGNC:HGNC:9306 See related Ensembl:ENSG00000074211 MIM:605997; AllianceGenome:HGNC:9306 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 PR52; PR55G; IMYPNO; IMYPNO1; B55gamma; B55-GAMMA Summary The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a gamma isoform of the regulatory subunit B55 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 39.0), endometrium (RPKM 11.7) and 4 other tissues See more Orthologs mouse all
PPP2R2D, Official Symbol PPP2R2Dprovided by HGNC Official Full Name protein phosphatase 2 regulatory subunit Bdeltaprovided by HGNC Primary source HGNC:HGNC:23732 See related Ensembl:ENSG00000175470 MIM:613992; AllianceGenome:HGNC:23732 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 B55D; MDS026; B55delta Summary Predicted to enable protein phosphatase regulator activity. Predicted to be involved in exit from mitosis and peptidyl-serine dephosphorylation. Predicted to be part of protein phosphatase type 2A complex. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in pancreas (RPKM 6.3), ovary (RPKM 5.9) and 25 other tissues See more Orthologs mouse all
PPP2R3A, Official Symbol PPP2R3Aprovided by HGNC Official Full Name protein phosphatase 2 regulatory subunit B''alphaprovided by HGNC Primary source HGNC:HGNC:9307 See related Ensembl:ENSG00000073711 MIM:604944; AllianceGenome:HGNC:9307 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 PR72; PR130; PPP2R3 Summary This gene encodes one of the regulatory subunits of the protein phosphatase 2. Protein phosphatase 2 (formerly named type 2A) is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2 holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B'/PR61, and B''/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B'' family. The B'' family has been further divided into subfamilies. The product of this gene belongs to the alpha subfamily of regulatory subunit B''. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Jun 2010] Expression Broad expression in heart (RPKM 10.6), kidney (RPKM 9.3) and 20 other tissues See more Orthologs mouse all
PPP2R3B, Official Symbol PPP2R3Bprovided by HGNC Official Full Name protein phosphatase 2 regulatory subunit B''betaprovided by HGNC Primary source HGNC:HGNC:13417 See related Ensembl:ENSG00000167393 Ensembl:ENSG00000292327 MIM:300339; AllianceGenome:HGNC:13417 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 PR48; PR70; NYREN8; PPP2R3L; PPP2R3LY Summary Protein phosphatase 2 (formerly named type 2A) is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2 holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B'/PR61, and B''/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B'' family. The B'' family has been further divided into subfamilies. The product of this gene belongs to the beta subfamily of regulatory subunit B''. [provided by RefSeq, Apr 2010] Expression Broad expression in heart (RPKM 9.0), testis (RPKM 5.0) and 23 other tissues See more Orthologs all
PPP2R3C, Official Symbol PPP2R3Cprovided by HGNC Official Full Name protein phosphatase 2 regulatory subunit B''gammaprovided by HGNC Primary source HGNC:HGNC:17485 See related Ensembl:ENSG00000092020 MIM:615902; AllianceGenome:HGNC:17485 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 G4-1; G5pr; GDRM; MEGD; SPGF36; C14orf10 Summary This gene encodes a regulatory subunit of the serine/threonine phosphatase, protein phosphatase 2. This protein is localized to both nuclear and cytoplasmic regions depending on cell cycle phase. Homozygous conditional knockout mice for this gene exhibit reduced numbers and impaired proliferation of immune system B cells. This protein may regulate the expression of the P-glycoprotein ATP-binding cassette transporter through its phosphatase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015] Expression Broad expression in testis (RPKM 18.2), bone marrow (RPKM 7.6) and 24 other tissues See more Orthologs all
PPP2R5A, Official Symbol PPP2R5Aprovided by HGNC Official Full Name protein phosphatase 2 regulatory subunit B'alphaprovided by HGNC Primary source HGNC:HGNC:9309 See related Ensembl:ENSG00000066027 MIM:601643; AllianceGenome:HGNC:9309 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 B56A; PR61A; B56alpha Summary The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an alpha isoform of the regulatory subunit B56 subfamily. Alternative transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010] Expression Ubiquitous expression in fat (RPKM 41.9), lung (RPKM 33.2) and 25 other tissues See more Orthologs mouse all
PPP2R5B, Official Symbol PPP2R5Bprovided by HGNC Official Full Name protein phosphatase 2 regulatory subunit B'betaprovided by HGNC Primary source HGNC:HGNC:9310 See related Ensembl:ENSG00000068971 MIM:601644; AllianceGenome:HGNC:9310 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 B56B; PR61B; B56beta Summary The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta isoform of the regulatory subunit B56 subfamily. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 15.1), gall bladder (RPKM 6.6) and 25 other tissues See more Orthologs mouse all
PPP2R5C, Official Symbol PPP2R5Cprovided by HGNC Official Full Name protein phosphatase 2 regulatory subunit B'gammaprovided by HGNC Primary source HGNC:HGNC:9311 See related Ensembl:ENSG00000078304 MIM:601645; AllianceGenome:HGNC:9311 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 B56G; PR61G; B56gamma Summary The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a gamma isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lymph node (RPKM 21.8), testis (RPKM 19.2) and 25 other tissues See more Orthologs mouse all
PPP2R5CP, Official Symbol PPP2R5CPprovided by HGNC Official Full Name protein phosphatase 2 regulatory subunit B'gamma pseudogeneprovided by HGNC Primary source HGNC:HGNC:17835 See related Ensembl:ENSG00000239557 AllianceGenome:HGNC:17835 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PPP2R5D, Official Symbol PPP2R5Dprovided by HGNC Official Full Name protein phosphatase 2 regulatory subunit B'deltaprovided by HGNC Primary source HGNC:HGNC:9312 See related Ensembl:ENSG00000112640 MIM:601646; AllianceGenome:HGNC:9312 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 B56D; HJS1; MRD35; B56delta Summary The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a delta isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 23.6), brain (RPKM 18.9) and 25 other tissues See more Orthologs mouse all
PPP2R5E, Official Symbol PPP2R5Eprovided by HGNC Official Full Name protein phosphatase 2 regulatory subunit B'epsilonprovided by HGNC Primary source HGNC:HGNC:9313 See related Ensembl:ENSG00000154001 MIM:601647; AllianceGenome:HGNC:9313 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 B56E; B56epsilon Summary The protein encoded by this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an epsilon isoform of the regulatory subunit B56 subfamily. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2013] Expression Ubiquitous expression in thyroid (RPKM 11.5), colon (RPKM 9.9) and 25 other tissues See more Orthologs mouse all
PPP3CA, Official Symbol PPP3CAprovided by HGNC Official Full Name protein phosphatase 3 catalytic subunit alphaprovided by HGNC Primary source HGNC:HGNC:9314 See related Ensembl:ENSG00000138814 MIM:114105; AllianceGenome:HGNC:9314 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 CALN; CCN1; CNA1; CALNA; DEE91; IECEE; PPP2B; ACCIID; CALNA1; IECEE1 Summary Enables several functions, including ATPase binding activity; calmodulin binding activity; and calmodulin-dependent protein phosphatase activity. Involved in several processes, including calcineurin-NFAT signaling cascade; peptidyl-serine dephosphorylation; and response to calcium ion. Located in several cellular components, including cytosol; dendritic spine; and nucleoplasm. Part of calcineurin complex. Colocalizes with cytoplasmic side of plasma membrane. Implicated in developmental and epileptic encephalopathy 91. Biomarker of focal segmental glomerulosclerosis and schizophrenia. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 54.0), prostate (RPKM 42.7) and 24 other tissues See more Orthologs mouse all
PPP3CB, Official Symbol PPP3CBprovided by HGNC Official Full Name protein phosphatase 3 catalytic subunit betaprovided by HGNC Primary source HGNC:HGNC:9315 See related Ensembl:ENSG00000107758 MIM:114106; AllianceGenome:HGNC:9315 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 CNA2; CALNB; CALNA2; PP2Bbeta Summary Enables several functions, including calmodulin binding activity; calmodulin-dependent protein phosphatase activity; and protein phosphatase 2B binding activity. Involved in calcineurin-NFAT signaling cascade; positive regulation of transcription by RNA polymerase II; and protein dephosphorylation. Located in cytoplasm. Part of calcineurin complex. Implicated in aortic valve stenosis. Biomarker of focal segmental glomerulosclerosis and schizophrenia. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 40.2), fat (RPKM 17.4) and 24 other tissues See more Orthologs mouse all
PPP3CB-AS1, Official Symbol PPP3CB-AS1provided by HGNC Official Full Name PPP3CB antisense RNA 1 (head to head)provided by HGNC Primary source HGNC:HGNC:50750 See related Ensembl:ENSG00000221817 AllianceGenome:HGNC:50750 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 USP54-AS1 Expression Ubiquitous expression in thyroid (RPKM 3.7), skin (RPKM 2.6) and 25 other tissues See more
PPP3CC, Official Symbol PPP3CCprovided by HGNC Official Full Name protein phosphatase 3 catalytic subunit gammaprovided by HGNC Primary source HGNC:HGNC:9316 See related Ensembl:ENSG00000120910 MIM:114107; AllianceGenome:HGNC:9316 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 CNA3; CALNA3; PP2Bgamma Summary Calcineurin is a calcium-dependent, calmodulin-stimulated protein phosphatase involved in the downstream regulation of dopaminergic signal transduction. Calcineurin is composed of a regulatory subunit and a catalytic subunit. The protein encoded by this gene represents one of the regulatory subunits that has been found for calcineurin. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] Expression Broad expression in testis (RPKM 12.3), lymph node (RPKM 5.3) and 24 other tissues See more Orthologs mouse all
PPP3R1, Official Symbol PPP3R1provided by HGNC Official Full Name protein phosphatase 3 regulatory subunit B, alphaprovided by HGNC Primary source HGNC:HGNC:9317 See related Ensembl:ENSG00000221823 MIM:601302; AllianceGenome:HGNC:9317 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 CNB; CNB1; CALNB1 Summary Enables cyclosporin A binding activity; phosphatase binding activity; and protein domain specific binding activity. Involved in calcineurin-NFAT signaling cascade and positive regulation of transcription by RNA polymerase II. Part of calcineurin complex. Implicated in Alzheimer's disease and dilated cardiomyopathy. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 81.4), fat (RPKM 34.1) and 24 other tissues See more Orthologs mouse all
PPP3R2, Official Symbol PPP3R2provided by HGNC Official Full Name protein phosphatase 3 regulatory subunit B, betaprovided by HGNC Primary source HGNC:HGNC:9318 See related Ensembl:ENSG00000188386 MIM:613821; AllianceGenome:HGNC:9318 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 PPP3RL Summary Predicted to enable calcium ion binding activity and calcium-dependent protein serine/threonine phosphatase regulator activity. Predicted to be involved in regulation of catalytic activity. Predicted to act upstream of or within penetration of zona pellucida. Predicted to be located in sperm mitochondrial sheath. Predicted to be part of calcineurin complex. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
PPP4C, Official Symbol PPP4Cprovided by HGNC Official Full Name protein phosphatase 4 catalytic subunitprovided by HGNC Primary source HGNC:HGNC:9319 See related Ensembl:ENSG00000149923 MIM:602035; AllianceGenome:HGNC:9319 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 PP4; PPX; PP-X; PP4C; PPH3; PPP4 Summary Enables protein serine/threonine phosphatase activity. Involved in regulation of double-strand break repair via homologous recombination. Located in cytosol; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 31.5), placenta (RPKM 25.7) and 25 other tissues See more Orthologs mouse all
PPP4R1, Official Symbol PPP4R1provided by HGNC Official Full Name protein phosphatase 4 regulatory subunit 1provided by HGNC Primary source HGNC:HGNC:9320 See related Ensembl:ENSG00000154845 MIM:604908; AllianceGenome:HGNC:9320 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 MEG1; PP4R1; PP4(Rmeg) Summary This gene encodes one of several alternate regulatory subunits of serine/threonine protein phosphatase 4 (PP4). The protein features multiple HEAT repeats. This protein forms a complex with PP4RC. This complex may have a distinct role from other PP4 complexes, including regulation of HDAC3 (Zhang et al., PMID: 15805470). There is also a transcribed pseudogene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] Expression Ubiquitous expression in esophagus (RPKM 39.0), testis (RPKM 25.5) and 25 other tissues See more Orthologs mouse all
PPP4R1-AS1, Official Symbol PPP4R1-AS1provided by HGNC Official Full Name PPP4R1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:51112 See related Ensembl:ENSG00000263627 AllianceGenome:HGNC:51112 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 testis (RPKM 1.4), lung (RPKM 0.2) and 12 other tissues See more
PPP4R2, Official Symbol PPP4R2provided by HGNC Official Full Name protein phosphatase 4 regulatory subunit 2provided by HGNC Primary source HGNC:HGNC:18296 See related Ensembl:ENSG00000163605 MIM:613822; AllianceGenome:HGNC:18296 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 PP4R2 Summary The protein encoded by this gene is a regulatory subunit of the serine/threonine-protein phosphatase 4 complex. In addition to being required for efficient DNA double strand break repair, this complex plays a role in organization of microtubules at centrosomes and processing of spliceosomal snRNPs. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015] Expression Ubiquitous expression in bone marrow (RPKM 21.8), testis (RPKM 13.7) and 25 other tissues See more Orthologs mouse all
PPP4R3A, Official Symbol PPP4R3Aprovided by HGNC Official Full Name protein phosphatase 4 regulatory subunit 3Aprovided by HGNC Primary source HGNC:HGNC:20219 See related Ensembl:ENSG00000100796 MIM:610351; AllianceGenome:HGNC:20219 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 smk1; FLFL1; PP4R3; SMEK1; smk-1; PP4R3A; MSTP033; KIAA2010 Summary Predicted to act upstream of or within positive regulation of gluconeogenesis and protein dephosphorylation. Located in cytosol and nuclear speck. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 27.7), testis (RPKM 19.4) and 25 other tissues See more Orthologs mouse all
PPP4R3B, Official Symbol PPP4R3Bprovided by HGNC Official Full Name protein phosphatase 4 regulatory subunit 3Bprovided by HGNC Primary source HGNC:HGNC:29267 See related Ensembl:ENSG00000275052 MIM:610352; AllianceGenome:HGNC:29267 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 PSY2; smk1; FLFL2; SMEK2; PP4R3B Summary Predicted to act upstream of or within positive regulation of gluconeogenesis and protein dephosphorylation. Located in centrosome and nuclear speck. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 19.2), lymph node (RPKM 17.8) and 25 other tissues See more Orthologs mouse all
PPP4R3B-DT, Official Symbol PPP4R3B-DTprovided by HGNC Official Full Name PPP4R3B divergent transcriptprovided by HGNC Primary source HGNC:HGNC:55209 See related AllianceGenome:HGNC:55209 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information not in current annotation release Expression Ubiquitous expression in spleen (RPKM 2.2), lymph node (RPKM 2.1) and 25 other tissues See more
PPP4R3C, Official Symbol PPP4R3Cprovided by HGNC Official Full Name protein phosphatase 4 regulatory subunit 3Cprovided by HGNC Primary source HGNC:HGNC:33146 See related Ensembl:ENSG00000224960 AllianceGenome:HGNC:33146 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 smk1; FLFL3P; SMEK3P; PPP4R3CP Orthologs all
PPP4R4, Official Symbol PPP4R4provided by HGNC Official Full Name protein phosphatase 4 regulatory subunit 4provided by HGNC Primary source HGNC:HGNC:23788 See related Ensembl:ENSG00000119698 MIM:616790; AllianceGenome:HGNC:23788 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 PP4R4; CFAP14; KIAA1622 Summary The protein encoded by this gene is a HEAT-like repeat-containing protein. The HEAT repeat is a tandemly repeated, 37-47 amino acid long module occurring in a number of cytoplasmic proteins. Arrays of HEAT repeats form a rod-like helical structure and appear to function as protein-protein interaction surfaces. The repeat-containing region of this protein has some similarity to the constant regulatory domain of the protein phosphatase 2A PR65/A subunit. The encoded protein binds protein serine/threonine phosphatase 4c in the cytoplasm. [provided by RefSeq, Jan 2017] Expression Biased expression in brain (RPKM 8.5), testis (RPKM 5.4) and 3 other tissues See more Orthologs mouse all
PPP5C, Official Symbol PPP5Cprovided by HGNC Official Full Name protein phosphatase 5 catalytic subunitprovided by HGNC Primary source HGNC:HGNC:9322 See related Ensembl:ENSG00000011485 MIM:600658; AllianceGenome:HGNC:9322 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 PP5; PPT; PPP5 Summary This gene encodes a serine/threonine phosphatase which is a member of the protein phosphatase catalytic subunit family. Proteins in this family participate in pathways regulated by reversible phosphorylation at serine and threonine residues; many of these pathways are involved in the regulation of cell growth and differentiation. The product of this gene has been shown to participate in signaling pathways in response to hormones or cellular stress, and elevated levels of this protein may be associated with breast cancer development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011] Expression Ubiquitous expression in heart (RPKM 18.5), brain (RPKM 17.4) and 25 other tissues See more Orthologs mouse all
PPP6C, Official Symbol PPP6Cprovided by HGNC Official Full Name protein phosphatase 6 catalytic subunitprovided by HGNC Primary source HGNC:HGNC:9323 See related Ensembl:ENSG00000119414 MIM:612725; AllianceGenome:HGNC:9323 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 PP6; PP6C Summary This gene encodes the catalytic subunit of protein phosphatase, a component of a signaling pathway regulating cell cycle progression. Splice variants encoding different protein isoforms exist. The pseudogene of this gene is located on chromosome X. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 20.0), fat (RPKM 18.6) and 25 other tissues See more Orthologs mouse all
PPP6R1, Official Symbol PPP6R1provided by HGNC Official Full Name protein phosphatase 6 regulatory subunit 1provided by HGNC Primary source HGNC:HGNC:29195 See related Ensembl:ENSG00000105063 MIM:610875; AllianceGenome:HGNC:29195 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 PP6R1; SAPS1; SAP190; KIAA1115 Summary Protein phosphatase regulatory subunits, such as SAPS1, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS1 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010] Expression Broad expression in testis (RPKM 56.4), lymph node (RPKM 37.5) and 24 other tissues See more Orthologs mouse all
PPP6R2, Official Symbol PPP6R2provided by HGNC Official Full Name protein phosphatase 6 regulatory subunit 2provided by HGNC Primary source HGNC:HGNC:19253 See related Ensembl:ENSG00000100239 MIM:610877; AllianceGenome:HGNC:19253 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 PP6R2; SAPS2; SAP190; KIAA0685 Summary The protein encoded by this gene is a regulatory protein for the protein phosphatase-6 catalytic subunit. Together, these proteins act as a significant T-loop phosphatase for Aurora A, an essential mitotic kinase. Loss of function of either the regulatory or catalytic subunit of protein phosphatase-6 interferes with spindle formation and chromosome alignment. [provided by RefSeq, May 2017] Expression Ubiquitous expression in testis (RPKM 24.1), brain (RPKM 12.1) and 25 other tissues See more Orthologs mouse all
PPP6R3, Official Symbol PPP6R3provided by HGNC Official Full Name protein phosphatase 6 regulatory subunit 3provided by HGNC Primary source HGNC:HGNC:1173 See related Ensembl:ENSG00000110075 MIM:610879; AllianceGenome:HGNC:1173 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 SAPL; PP6R3; SAPLa; SAPS3; SAP190; C11orf23 Summary Protein phosphatase regulatory subunits, such as SAPS3, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS3 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010] Expression Ubiquitous expression in thyroid (RPKM 14.0), testis (RPKM 11.4) and 25 other tissues See more Orthologs mouse all
PPRC1, Official Symbol PPRC1provided by HGNC Official Full Name PPARG related coactivator 1provided by HGNC Primary source HGNC:HGNC:30025 See related Ensembl:ENSG00000148840 MIM:617462; AllianceGenome:HGNC:30025 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 PRC Summary The protein encoded by this gene is similar to PPAR-gamma coactivator 1 (PPARGC1/PGC-1), a protein that can activate mitochondrial biogenesis in part through a direct interaction with nuclear respiratory factor 1 (NRF1). This protein has been shown to interact with NRF1. It is thought to be a functional relative of PPAR-gamma coactivator 1 that activates mitochondrial biogenesis through NRF1 in response to proliferative signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] Expression Ubiquitous expression in gall bladder (RPKM 7.9), appendix (RPKM 7.5) and 25 other tissues See more Orthologs mouse all
PPT1, Official Symbol PPT1provided by HGNC Official Full Name palmitoyl-protein thioesterase 1provided by HGNC Primary source HGNC:HGNC:9325 See related Ensembl:ENSG00000131238 MIM:600722; AllianceGenome:HGNC:9325 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 PPT; CLN1; INCL Summary The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2008] Expression Ubiquitous expression in spleen (RPKM 86.1), lung (RPKM 62.1) and 25 other tissues See more Orthologs mouse all
PPT2, Official Symbol PPT2provided by HGNC Official Full Name palmitoyl-protein thioesterase 2provided by HGNC Primary source HGNC:HGNC:9326 See related Ensembl:ENSG00000221988 MIM:603298; AllianceGenome:HGNC:9326 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 G14; PPT-2; C6orf8 Summary This gene encodes a member of the palmitoyl-protein thioesterase family. The encoded glycosylated lysosomal protein has palmitoyl-CoA hydrolase activity in vitro, but does not hydrolyze palmitate from cysteine residues in proteins. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream EGFL8 (EGF-like-domain, multiple 8) gene. [provided by RefSeq, Feb 2011] Expression Ubiquitous expression in ovary (RPKM 15.5), placenta (RPKM 11.9) and 25 other tissues See more Orthologs mouse all
PPT2-EGFL8, Official Symbol PPT2-EGFL8provided by HGNC Official Full Name PPT2-EGFL8 readthrough (NMD candidate)provided by HGNC Primary source HGNC:HGNC:48343 See related Ensembl:ENSG00000258388 AllianceGenome:HGNC:48343 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 PPT2; PPT-2 Summary This locus represents naturally occurring read-through transcription between the neighboring PPT2 (palmitoyl-protein thioesterase 2) and EGFL8 (EGF-like-domain, multiple 8) genes located in the major histocompatibility complex class III region of chromosome 6. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011] Expression Ubiquitous expression in ovary (RPKM 14.4), skin (RPKM 11.6) and 25 other tissues See more
PPTC7, Official Symbol PPTC7provided by HGNC Official Full Name protein phosphatase targeting COQ7provided by HGNC Primary source HGNC:HGNC:30695 See related Ensembl:ENSG00000196850 MIM:609668; AllianceGenome:HGNC:30695 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 TAPP2C; TA-PP2C Summary Enables protein serine/threonine phosphatase activity. Involved in peptidyl-serine dephosphorylation and regulation of ubiquinone biosynthetic process. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 18.8), heart (RPKM 15.4) and 25 other tissues See more Orthologs mouse all
PPWD1, Official Symbol PPWD1provided by HGNC Official Full Name peptidylprolyl isomerase domain and WD repeat containing 1provided by HGNC Primary source HGNC:HGNC:28954 See related Ensembl:ENSG00000113593 MIM:618274; AllianceGenome:HGNC:28954 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Enables cyclosporin A binding activity and peptidyl-prolyl cis-trans isomerase activity. Involved in protein peptidyl-prolyl isomerization. Located in nuclear body. Part of catalytic step 2 spliceosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 13.9), appendix (RPKM 11.8) and 25 other tissues See more Orthologs mouse all
PPY, Official Symbol PPYprovided by HGNC Official Full Name pancreatic polypeptideprovided by HGNC Primary source HGNC:HGNC:9327 See related Ensembl:ENSG00000108849 MIM:167780; AllianceGenome:HGNC:9327 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 PH; PP; PNP Summary This gene encodes a member of the neuropeptide Y (NPY) family of peptides. The encoded 95 aa preproprotein is synthesized in the pancreatic islets of Langerhans and proteolytically processed to generate two peptide products. These products include the active pancreatic hormone of 36 aa and an icosapeptide of unknown function. This hormone acts as a regulator of pancreatic and gastrointestinal functions and may be important in the regulation of food intake. Plasma level of this hormone has been shown to be reduced in conditions associated with increased food intake and elevated in anorexia nervosa. In addition, infusion of this hormone in obese rodents has shown to decrease weight gain. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016] Expression Biased expression in pancreas (RPKM 7.7), colon (RPKM 0.9) and 1 other tissue See more Orthologs mouse all
PQBP1, Official Symbol PQBP1provided by HGNC Official Full Name polyglutamine binding protein 1provided by HGNC Primary source HGNC:HGNC:9330 See related Ensembl:ENSG00000102103 MIM:300463; AllianceGenome:HGNC:9330 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 SHS; MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1 Summary This gene encodes a nuclear polyglutamine-binding protein that is involved with transcription activation. The encoded protein contains a WW domain. Mutations in this gene have been found in patients with Renpenning syndrome 1 and other syndromes with X-linked cognitive disability. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.[provided by RefSeq, Nov 2009] Expression Ubiquitous expression in ovary (RPKM 25.3), adrenal (RPKM 17.1) and 25 other tissues See more Orthologs mouse all
PRAC1, Official Symbol PRAC1provided by HGNC Official Full Name PRAC1 small nuclear proteinprovided by HGNC Primary source HGNC:HGNC:30591 See related Ensembl:ENSG00000159182 MIM:609819; AllianceGenome:HGNC:30591 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 PRAC; C17orf92 Summary This gene is reported to be specifically expressed in prostate, rectum and distal colon. Sequence analysis suggests that it may play a regulatory role in the nucleus. [provided by RefSeq, Jul 2008] Expression Biased expression in colon (RPKM 46.5) and prostate (RPKM 34.0) See more Orthologs all
PRAC2, Official Symbol PRAC2provided by HGNC Official Full Name PRAC2 small nuclear proteinprovided by HGNC Primary source HGNC:HGNC:30143 See related Ensembl:ENSG00000229637 MIM:610787; AllianceGenome:HGNC:30143 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 HOXBAS5; C17orf93; HOXB-AS5; HOXB13-AS1; NCRNA00253 Summary This gene is highly expressed in prostate, rectum, colon, and testis. This gene may produce a non-coding RNA or may encode a short protein that might localize to the nucleus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] Expression Biased expression in prostate (RPKM 2.7), colon (RPKM 1.1) and 1 other tissue See more Orthologs all
PRADC1, Official Symbol PRADC1provided by HGNC Official Full Name protease associated domain containing 1provided by HGNC Primary source HGNC:HGNC:16047 See related Ensembl:ENSG00000135617 MIM:619674; AllianceGenome:HGNC:16047 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 PAP21; C2orf7 Summary Located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in heart (RPKM 23.7), fat (RPKM 12.7) and 25 other tissues See more Orthologs mouse all