psui3905/ncbi_genes_summary huggingface dataset:
PARP4P3, Official Symbol PARP4P3provided by HGNC Official Full Name poly(ADP-ribose) polymerase family member 4 pseudogene 3provided by HGNC Primary source HGNC:HGNC:274 See related Ensembl:ENSG00000249263 AllianceGenome:HGNC:274 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ADPRTL4
PARP6, Official Symbol PARP6provided by HGNC Official Full Name poly(ADP-ribose) polymerase family member 6provided by HGNC Primary source HGNC:HGNC:26921 See related Ensembl:ENSG00000137817 MIM:619439; AllianceGenome:HGNC:26921 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 ARTD17; pART17; PARP-6-C; PARP-6-B1 Summary Enables protein ADP-ribosylase activity. Involved in protein auto-ADP-ribosylation and protein mono-ADP-ribosylation. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 26.3), thyroid (RPKM 13.7) and 25 other tissues See more Orthologs mouse all
PARP8, Official Symbol PARP8provided by HGNC Official Full Name poly(ADP-ribose) polymerase family member 8provided by HGNC Primary source HGNC:HGNC:26124 See related Ensembl:ENSG00000151883 AllianceGenome:HGNC:26124 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 ARTD16; pART16 Summary Enables protein ADP-ribosylase activity. Involved in protein auto-ADP-ribosylation and protein mono-ADP-ribosylation. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in bone marrow (RPKM 11.4), thyroid (RPKM 9.6) and 24 other tissues See more Orthologs mouse all
PARP9, Official Symbol PARP9provided by HGNC Official Full Name poly(ADP-ribose) polymerase family member 9provided by HGNC Primary source HGNC:HGNC:24118 See related Ensembl:ENSG00000138496 MIM:612065; AllianceGenome:HGNC:24118 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 BAL; BAL1; ARTD9; MGC:7868 Summary Enables several functions, including ADP-D-ribose binding activity; NAD+ ADP-ribosyltransferase activity; and STAT family protein binding activity. Involved in several processes, including positive regulation of nitrogen compound metabolic process; regulation of defense response; and regulation of gene expression. Located in several cellular components, including mitochondrion; nucleoplasm; and site of DNA damage. Part of protein-containing complex. Colocalizes with nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 10.3), appendix (RPKM 10.1) and 25 other tissues See more Orthologs mouse all
PARPBP, Official Symbol PARPBPprovided by HGNC Official Full Name PARP1 binding proteinprovided by HGNC Primary source HGNC:HGNC:26074 See related Ensembl:ENSG00000185480 MIM:613687; AllianceGenome:HGNC:26074 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 AROM; PARI; C12orf48 Summary Predicted to enable DNA binding activity. Involved in negative regulation of double-strand break repair via homologous recombination. Located in chromatin and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in bone marrow (RPKM 2.3), testis (RPKM 1.7) and 22 other tissues See more Orthologs mouse all
PARS2, Official Symbol PARS2provided by HGNC Official Full Name prolyl-tRNA synthetase 2, mitochondrialprovided by HGNC Primary source HGNC:HGNC:30563 See related Ensembl:ENSG00000162396 MIM:612036; AllianceGenome:HGNC:30563 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 DEE75; proRS; EIEE75; MT-PRORS Summary This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of proline to tRNA molecules. Mutations have been found in this gene in some patients with Alpers syndrome. [provided by RefSeq, Mar 2015] Expression Ubiquitous expression in testis (RPKM 3.4), ovary (RPKM 2.8) and 24 other tissues See more Orthologs mouse all
PART1, Official Symbol PART1provided by HGNC Official Full Name prostate androgen-regulated transcript 1provided by HGNC Primary source HGNC:HGNC:17263 See related Ensembl:ENSG00000152931 MIM:604991; AllianceGenome:HGNC:17263 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 NCRNA00206 Summary This gene is induced by androgen in prostate adenocarcinoma cells. Multiple alternatively transcript variants have been described for this gene, none of which are predicted to encode a protein product. [provided by RefSeq, Sep 2009] Expression Biased expression in brain (RPKM 4.1), prostate (RPKM 3.9) and 5 other tissues See more
PARTICL, Official Symbol PARTICLprovided by HGNC Official Full Name promoter of MAT2A antisense radiation-induced circulating long non-coding RNAprovided by HGNC Primary source HGNC:HGNC:50886 See related Ensembl:ENSG00000286532 MIM:616350; AllianceGenome:HGNC:50886 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 PARTICLE Orthologs mouse all
PARVA, Official Symbol PARVAprovided by HGNC Official Full Name parvin alphaprovided by HGNC Primary source HGNC:HGNC:14652 See related Ensembl:ENSG00000197702 MIM:608120; AllianceGenome:HGNC:14652 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 MXRA2; CH-ILKBP Summary This gene encodes a member of the parvin family of actin-binding proteins. Parvins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. The encoded protein is part of the integrin-linked kinase signaling complex and plays a role in cell adhesion, motility and survival. [provided by RefSeq, Dec 2010] Expression Ubiquitous expression in endometrium (RPKM 30.7), fat (RPKM 26.7) and 24 other tissues See more Orthologs mouse all
PARVB, Official Symbol PARVBprovided by HGNC Official Full Name parvin betaprovided by HGNC Primary source HGNC:HGNC:14653 See related Ensembl:ENSG00000188677 MIM:608121; AllianceGenome:HGNC:14653 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 CGI-56 Summary This gene encodes a member of the parvin family of actin-binding proteins, which play a role in cytoskeleton organization and cell adhesion. These proteins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. This family member binds to alphaPIX and alpha-actinin, and it can inhibit the activity of integrin-linked kinase. This protein also functions in tumor suppression. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in fat (RPKM 14.3), heart (RPKM 12.4) and 24 other tissues See more Orthologs mouse all
PARVG, Official Symbol PARVGprovided by HGNC Official Full Name parvin gammaprovided by HGNC Primary source HGNC:HGNC:14654 See related Ensembl:ENSG00000138964 MIM:608122; AllianceGenome:HGNC:14654 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 Members of the parvin family, including PARVG, are actin-binding proteins associated with focal contacts.[supplied by OMIM, Aug 2004] Expression Broad expression in spleen (RPKM 17.3), bone marrow (RPKM 16.9) and 19 other tissues See more Orthologs mouse all
PASD1, Official Symbol PASD1provided by HGNC Official Full Name PAS domain containing repressor 1provided by HGNC Primary source HGNC:HGNC:20686 See related Ensembl:ENSG00000166049 MIM:300993; AllianceGenome:HGNC:20686 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 CT63; CT64; OXTES1 Summary This gene encodes a protein that is thought to function as a transcription factor. The protein is a cancer-associated antigen that can stimulate autologous T-cell responses, and it is therefore considered to be a potential immunotherapeutic target for the treatment of various hematopoietic malignancies, including diffuse large B-cell lymphoma. [provided by RefSeq, May 2010] Expression Restricted expression toward testis (RPKM 11.6) See more Orthologs all
PASK, Official Symbol PASKprovided by HGNC Official Full Name PAS domain containing serine/threonine kinaseprovided by HGNC Primary source HGNC:HGNC:17270 See related Ensembl:ENSG00000115687 MIM:607505; AllianceGenome:HGNC:17270 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 STK37; PASKIN Summary This gene encodes a member of the serine/threonine kinase family that contains two PAS domains. Expression of this gene is regulated by glucose, and the encoded protein plays a role in the regulation of insulin gene expression. Downregulation of this gene may play a role in type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] Expression Broad expression in testis (RPKM 7.9), lymph node (RPKM 6.8) and 21 other tissues See more Orthologs mouse all
PATE1, Official Symbol PATE1provided by HGNC Official Full Name prostate and testis expressed 1provided by HGNC Primary source HGNC:HGNC:24664 See related Ensembl:ENSG00000171053 MIM:606861; AllianceGenome:HGNC:24664 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 PATE Summary Predicted to enable acetylcholine receptor regulator activity. Predicted to be involved in regulation of neurotransmitter receptor activity. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
PATE2, Official Symbol PATE2provided by HGNC Official Full Name prostate and testis expressed 2provided by HGNC Primary source HGNC:HGNC:32249 See related Ensembl:ENSG00000196844 AllianceGenome:HGNC:32249 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 PATE-M; UNQ3112; C11orf38 Summary Located in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
PATE3, Official Symbol PATE3provided by HGNC Official Full Name prostate and testis expressed 3provided by HGNC Primary source HGNC:HGNC:35426 See related Ensembl:ENSG00000236027 AllianceGenome:HGNC:35426 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 HEL-127; PATE-DJ Summary Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
PATE4, Official Symbol PATE4provided by HGNC Official Full Name prostate and testis expressed 4provided by HGNC Primary source HGNC:HGNC:35427 See related Ensembl:ENSG00000237353 AllianceGenome:HGNC:35427 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 PATE-B Summary Enables acetylcholine receptor regulator activity. Involved in regulation of neurotransmitter receptor activity. Located in acrosomal vesicle and extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
PATJ, Official Symbol PATJprovided by HGNC Official Full Name PATJ crumbs cell polarity complex componentprovided by HGNC Primary source HGNC:HGNC:28881 See related Ensembl:ENSG00000132849 MIM:603199; AllianceGenome:HGNC:28881 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 Cipp; INADL; hINADL; InaD-like Summary This gene encodes a protein with multiple PDZ domains. PDZ domains mediate protein-protein interactions, and proteins with multiple PDZ domains often organize multimeric complexes at the plasma membrane. This protein localizes to tight junctions and to the apical membrane of epithelial cells. A similar protein in Drosophila is a scaffolding protein which tethers several members of a multimeric signaling complex in photoreceptors. [provided by RefSeq, Jul 2008] Expression Broad expression in kidney (RPKM 14.4), heart (RPKM 7.9) and 24 other tissues See more Orthologs mouse all
PATJ-DT, Official Symbol PATJ-DTprovided by HGNC Official Full Name PATJ divergent transcriptprovided by HGNC Primary source HGNC:HGNC:55256 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
PATL1, Official Symbol PATL1provided by HGNC Official Full Name PAT1 homolog 1, processing body mRNA decay factorprovided by HGNC Primary source HGNC:HGNC:26721 See related Ensembl:ENSG00000166889 MIM:614660; AllianceGenome:HGNC:26721 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 Pat1b; hPat1b Summary Enables poly(G) binding activity and poly(U) RNA binding activity. Involved in P-body assembly and deadenylation-dependent decapping of nuclear-transcribed mRNA. Located in P-body and cytosol. Colocalizes with CCR4-NOT complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 16.7), placenta (RPKM 9.5) and 25 other tissues See more Orthologs mouse all
PATL2, Official Symbol PATL2provided by HGNC Official Full Name PAT1 homolog 2provided by HGNC Primary source HGNC:HGNC:33630 See related Ensembl:ENSG00000229474 MIM:614661; AllianceGenome:HGNC:33630 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 OOMD4; Pat1a; OZEMA4; hPat1a Summary Predicted to enable RNA binding activity. Predicted to be involved in P-body assembly and deadenylation-dependent decapping of nuclear-transcribed mRNA. Predicted to act upstream of or within negative regulation of cytoplasmic mRNA processing body assembly. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in spleen (RPKM 2.6), lymph node (RPKM 2.5) and 20 other tissues See more Orthologs mouse all
PATZ1, Official Symbol PATZ1provided by HGNC Official Full Name POZ/BTB and AT hook containing zinc finger 1provided by HGNC Primary source HGNC:HGNC:13071 See related Ensembl:ENSG00000100105 MIM:605165; AllianceGenome:HGNC:13071 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 ZSG; MAZR; PATZ; RIAZ; ZBTB19; ZNF278; dJ400N23 Summary The protein encoded by this gene contains an A-T hook DNA binding motif which usually binds to other DNA binding structures to play an important role in chromatin modeling and transcription regulation. Its Poz domain is thought to function as a site for protein-protein interaction and is required for transcriptional repression, and the zinc-fingers comprise the DNA binding domain. Since the encoded protein has typical features of a transcription factor, it is postulated to be a repressor of gene expression. In small round cell sarcoma, this gene is fused to EWS by a small inversion of 22q, then the hybrid is thought to be translocated (t(1;22)(p36.1;q12). The rearrangement of chromosome 22 involves intron 8 of EWS and exon 1 of this gene creating a chimeric sequence containing the transactivation domain of EWS fused to zinc finger domain of this protein. This is a distinct example of an intra-chromosomal rearrangement of chromosome 22. Four alternatively spliced transcript variants are described for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in ovary (RPKM 10.3), thyroid (RPKM 10.1) and 25 other tissues See more Orthologs mouse all
PAUPAR, Official Symbol PAUPARprovided by HGNC Official Full Name PAX6 upstream antisense RNAprovided by HGNC Primary source HGNC:HGNC:49670 See related Ensembl:ENSG00000281880 AllianceGenome:HGNC:49670 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene is thought to produce a functional long non-coding RNA. Knockdown of this transcript results in genome-wide changes in gene expression, particularly of cell cyle genes, indicating a role in regulating differentiation. This transcript may bind to the promoter region of target genes and may also interact with the transcription factor Pax6 (paired box 6). [provided by RefSeq, Feb 2015] Orthologs mouse all
PAWR, Official Symbol PAWRprovided by HGNC Official Full Name pro-apoptotic WT1 regulatorprovided by HGNC Primary source HGNC:HGNC:8614 See related Ensembl:ENSG00000177425 MIM:601936; AllianceGenome:HGNC:8614 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 PAR4; Par-4 Summary This gene encodes a tumor suppressor protein that selectively induces apoptosis in cancer cells through intracellular and extracellular mechanisms. The intracellular mechanism involves the inhibition of pro-survival pathways and the activation of Fas-mediated apoptosis, while the extracellular mechanism involves the binding of a secreted form of this protein to glucose regulated protein 78 (GRP78) on the cell surface, which leads to activation of the extrinsic apoptotic pathway. This gene is located on the unstable human chromosomal 12q21 region and is often deleted or mutated different tumors. The encoded protein also plays an important role in the progression of age-related diseases. [provided by RefSeq, Aug 2017] Expression Ubiquitous expression in endometrium (RPKM 8.7), thyroid (RPKM 5.9) and 24 other tissues See more Orthologs mouse all
PAWRP1, Official Symbol PAWRP1provided by HGNC Official Full Name pro-apoptotic WT1 regulator pseudogene 1provided by HGNC Primary source HGNC:HGNC:45201 See related Ensembl:ENSG00000225533 AllianceGenome:HGNC:45201 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PAX1, Official Symbol PAX1provided by HGNC Official Full Name paired box 1provided by HGNC Primary source HGNC:HGNC:8615 See related Ensembl:ENSG00000125813 MIM:167411; AllianceGenome:HGNC:8615 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 OFC2; HUP48 Summary This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. This gene plays a role in pattern formation during embryogenesis and may be essential for development of the vertebral column. This gene is silenced by methylation in ovarian and cervical cancers and may be a tumor suppressor gene. Mutations in this gene are also associated with vertebral malformations. [provided by RefSeq, Mar 2012] Expression Low expression observed in reference dataset See more Orthologs mouse all
PAX2, Official Symbol PAX2provided by HGNC Official Full Name paired box 2provided by HGNC Primary source HGNC:HGNC:8616 See related Ensembl:ENSG00000075891 MIM:167409; AllianceGenome:HGNC:8616 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 FSGS7; PAPRS; PAX-2 Summary PAX2 encodes paired box gene 2, one of many human homologues of the Drosophila melanogaster gene prd. The central feature of this transcription factor gene family is the conserved DNA-binding paired box domain. PAX2 is believed to be a target of transcriptional supression by the tumor suppressor gene WT1. Mutations within PAX2 have been shown to result in optic nerve colobomas and renal hypoplasia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014] Annotation information Annotation category: suggests misassembly Expression Restricted expression toward kidney (RPKM 4.2) See more Orthologs mouse all
PAX3, Official Symbol PAX3provided by HGNC Official Full Name paired box 3provided by HGNC Primary source HGNC:HGNC:8617 See related Ensembl:ENSG00000135903 MIM:606597; AllianceGenome:HGNC:8617 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 WS1; WS3; CDHS; HUP2; PAX-3 Summary This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
PAX4, Official Symbol PAX4provided by HGNC Official Full Name paired box 4provided by HGNC Primary source HGNC:HGNC:8618 See related Ensembl:ENSG00000106331 MIM:167413; AllianceGenome:HGNC:8618 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 KPD; MODY9 Summary This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The paired box 4 gene is involved in pancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producing beta cells. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
PAX5, Official Symbol PAX5provided by HGNC Official Full Name paired box 5provided by HGNC Primary source HGNC:HGNC:8619 See related Ensembl:ENSG00000196092 MIM:167414; AllianceGenome:HGNC:8619 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 ALL3; BSAP; PAX-5 Summary This gene encodes a member of the paired box (PAX) family of transcription factors. The central feature of this gene family is a novel, highly conserved DNA-binding motif, known as the paired box. Paired box transcription factors are important regulators in early development, and alterations in the expression of their genes are thought to contribute to neoplastic transformation. This gene encodes the B-cell lineage specific activator protein that is expressed at early, but not late stages of B-cell differentiation. Its expression has also been detected in developing CNS and testis and so the encoded protein may also play a role in neural development and spermatogenesis. This gene is located at 9p13, which is involved in t(9;14)(p13;q32) translocations recurring in small lymphocytic lymphomas of the plasmacytoid subtype, and in derived large-cell lymphomas. This translocation brings the potent E-mu enhancer of the IgH gene into close proximity of the PAX5 promoter, suggesting that the deregulation of transcription of this gene contributes to the pathogenesis of these lymphomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] Expression Biased expression in lymph node (RPKM 16.7), spleen (RPKM 9.5) and 3 other tissues See more Orthologs mouse all
PAX6, Official Symbol PAX6provided by HGNC Official Full Name paired box 6provided by HGNC Primary source HGNC:HGNC:8620 See related Ensembl:ENSG00000007372 MIM:607108; AllianceGenome:HGNC:8620 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 AN; AN1; AN2; FVH1; MGDA; WAGR; ASGD5; D11S812E Summary This gene encodes paired box protein Pax-6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to a conserved paired box domain, a hallmark feature of this gene family, the encoded protein also contains a homeobox domain. Both domains are known to bind DNA and function as regulators of gene transcription. Activity of this protein is key in the development of neural tissues, particularly the eye. This gene is regulated by multiple enhancers located up to hundreds of kilobases distant from this locus. Mutations in this gene or in the enhancer regions can cause ocular disorders such as aniridia and Peter's anomaly. Use of alternate promoters and alternative splicing results in multiple transcript variants encoding different isoforms. Interestingly, inclusion of a particular alternate coding exon has been shown to increase the length of the paired box domain and alter its DNA binding specificity. Consequently, isoforms that carry the shorter paired box domain regulate a different set of genes compared to the isoforms carrying the longer paired box domain. [provided by RefSeq, Mar 2019] Expression Broad expression in brain (RPKM 3.5), stomach (RPKM 2.6) and 15 other tissues See more Orthologs mouse all
PAX7, Official Symbol PAX7provided by HGNC Official Full Name paired box 7provided by HGNC Primary source HGNC:HGNC:8621 See related Ensembl:ENSG00000009709 MIM:167410; AllianceGenome:HGNC:8621 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 HUP1; RMS2; PAX7B; CMYP19; MYOSCO Summary This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The specific function of the paired box 7 gene is unknown but speculated to involve tumor suppression since fusion of this gene with a forkhead domain family member has been associated with alveolar rhabdomyosarcoma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
PAX8, Official Symbol PAX8provided by HGNC Official Full Name paired box 8provided by HGNC Primary source HGNC:HGNC:8622 See related Ensembl:ENSG00000125618 MIM:167415; AllianceGenome:HGNC:8622 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 PAX-8 Summary This gene encodes a member of the paired box (PAX) family of transcription factors. Members of this gene family typically encode proteins that contain a paired box domain, an octapeptide, and a paired-type homeodomain. This nuclear protein is involved in thyroid follicular cell development and expression of thyroid-specific genes. Mutations in this gene have been associated with thyroid dysgenesis, thyroid follicular carcinomas and atypical follicular thyroid adenomas. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010] Expression Biased expression in thyroid (RPKM 261.2) and kidney (RPKM 40.3) See more Orthologs mouse all
PAX8-AS1, Official Symbol PAX8-AS1provided by HGNC Official Full Name PAX8 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:49271 See related Ensembl:ENSG00000189223 AllianceGenome:HGNC:49271 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 Broad expression in thyroid (RPKM 22.6), adrenal (RPKM 9.3) and 19 other tissues See more
PAX9, Official Symbol PAX9provided by HGNC Official Full Name paired box 9provided by HGNC Primary source HGNC:HGNC:8623 See related Ensembl:ENSG00000198807 MIM:167416; AllianceGenome:HGNC:8623 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 STHAG3 Summary This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. Mice lacking this gene exhibit impaired development of organs, musculature and the skeleton, including absent and abnormally developed teeth, and neonatal lethality. Mutations in the human gene are associated with selective tooth agenesis-3. [provided by RefSeq, Sep 2015] Expression Biased expression in esophagus (RPKM 29.7), salivary gland (RPKM 11.4) and 1 other tissue See more Orthologs mouse all
PAXBP1, Official Symbol PAXBP1provided by HGNC Official Full Name PAX3 and PAX7 binding protein 1provided by HGNC Primary source HGNC:HGNC:13579 See related Ensembl:ENSG00000159086 MIM:617621; AllianceGenome:HGNC:13579 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 GCFC; BM020; GCFC1; FSAP105; C21orf66 Summary Predicted to enable DNA binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within positive regulation of histone methylation; positive regulation of myoblast proliferation; and regulation of skeletal muscle satellite cell proliferation. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 19.2), ovary (RPKM 10.2) and 25 other tissues See more Orthologs mouse all
PAXBP1-AS1, Official Symbol PAXBP1-AS1provided by HGNC Official Full Name PAXBP1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:39603 See related Ensembl:ENSG00000238197 AllianceGenome:HGNC:39603 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 GCFC1-AS1 Expression Ubiquitous expression in testis (RPKM 2.1), brain (RPKM 2.0) and 25 other tissues See more
PAXBP1P1, Official Symbol PAXBP1P1provided by HGNC Official Full Name PAX3 and PAX7 binding protein 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:50352 See related Ensembl:ENSG00000233489 AllianceGenome:HGNC:50352 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PAXIP1, Official Symbol PAXIP1provided by HGNC Official Full Name PAX interacting protein 1provided by HGNC Primary source HGNC:HGNC:8624 See related Ensembl:ENSG00000157212 MIM:608254; AllianceGenome:HGNC:8624 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 PTIP; TNRC2; CAGF28; CAGF29; PACIP1; PAXIP1L Summary This gene is a member of the paired box (PAX) gene family and encodes a nuclear protein with six BRCT (breast cancer carboxy-terminal) domains. This protein plays a critical role in maintaining genome stability, condensation of chromatin and progression through mitosis. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 6.7), lymph node (RPKM 3.6) and 25 other tissues See more Orthologs mouse all
PAXIP1-DT, Official Symbol PAXIP1-DTprovided by HGNC Official Full Name PAXIP1 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:27328 See related Ensembl:ENSG00000273344 AllianceGenome:HGNC:27328 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 PAXIP1-AS1
PAXX, Official Symbol PAXXprovided by HGNC Official Full Name PAXX non-homologous end joining factorprovided by HGNC Primary source HGNC:HGNC:27849 See related Ensembl:ENSG00000148362 MIM:616315; AllianceGenome:HGNC:27849 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 XLS; C9orf142 Summary The protein encoded by this gene plays a role in the nonhomologous end joining (NHEJ) pathway of DNA double-strand break repair. The encoded protein may function to stabilize the Ku70/Ku80 heterodimer to facilitate the assembly and maintain the stability of the NHEJ complex. [provided by RefSeq, Jul 2016] Expression Ubiquitous expression in spleen (RPKM 25.7), lymph node (RPKM 14.9) and 25 other tissues See more Orthologs mouse all
PBDC1, Official Symbol PBDC1provided by HGNC Official Full Name polysaccharide biosynthesis domain containing 1provided by HGNC Primary source HGNC:HGNC:28790 See related Ensembl:ENSG00000102390 AllianceGenome:HGNC:28790 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 CXorf26 Expression Ubiquitous expression in duodenum (RPKM 13.7), small intestine (RPKM 12.0) and 25 other tissues See more Orthologs mouse all
PBK, Official Symbol PBKprovided by HGNC Official Full Name PDZ binding kinaseprovided by HGNC Primary source HGNC:HGNC:18282 See related Ensembl:ENSG00000168078 MIM:611210; AllianceGenome:HGNC:18282 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 SPK; CT84; TOPK; HEL164; Nori-3 Summary This gene encodes a serine/threonine protein kinase related to the dual specific mitogen-activated protein kinase kinase (MAPKK) family. Evidence suggests that mitotic phosphorylation is required for its catalytic activity. The encoded protein may be involved in the activation of lymphoid cells and support testicular functions, with a suggested role in the process of spermatogenesis. Overexpression of this gene has been implicated in tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Expression Biased expression in testis (RPKM 35.2), lymph node (RPKM 5.8) and 8 other tissues See more Orthologs mouse all
PBLD, Official Symbol PBLDprovided by HGNC Official Full Name phenazine biosynthesis like protein domain containingprovided by HGNC Primary source HGNC:HGNC:23301 See related Ensembl:ENSG00000108187 MIM:612189; AllianceGenome:HGNC:23301 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 MAWBP; MAWDBP; HEL-S-306 Summary Enables identical protein binding activity. Involved in maintenance of gastrointestinal epithelium; negative regulation of SMAD protein signal transduction; and negative regulation of transforming growth factor beta receptor signaling pathway. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in kidney (RPKM 94.0), duodenum (RPKM 62.5) and 5 other tissues See more Orthologs all
PBOV1, Official Symbol PBOV1provided by HGNC Official Full Name prostate and breast cancer overexpressed 1provided by HGNC Primary source HGNC:HGNC:21079 See related Ensembl:ENSG00000254440 MIM:605669; AllianceGenome:HGNC:21079 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 UC28; UROC28; dJ171N11.2 Summary This intronless gene encodes a protein of unknown function. Its expression is up-regulated in some types of cancer, including prostate, breast, and bladder cancer. [provided by RefSeq, Aug 2011] Orthologs all
PBRM1, Official Symbol PBRM1provided by HGNC Official Full Name polybromo 1provided by HGNC Primary source HGNC:HGNC:30064 See related Ensembl:ENSG00000163939 MIM:606083; AllianceGenome:HGNC:30064 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 PB1; RCC; BAF180; SMARCH1 Summary This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcriptional activation by nuclear hormone receptors. Mutations at this locus have been associated with primary clear cell renal cell carcinoma. [provided by RefSeq, Feb 2012] Expression Ubiquitous expression in thyroid (RPKM 10.3), ovary (RPKM 8.8) and 25 other tissues See more Orthologs mouse all
PBX1, Official Symbol PBX1provided by HGNC Official Full Name PBX homeobox 1provided by HGNC Primary source HGNC:HGNC:8632 See related Ensembl:ENSG00000185630 MIM:176310; AllianceGenome:HGNC:8632 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 CAKUHED Summary This gene encodes a nuclear protein that belongs to the PBX homeobox family of transcriptional factors. Studies in mice suggest that this gene may be involved in the regulation of osteogenesis and required for skeletal patterning and programming. A chromosomal translocation, t(1;19) involving this gene and TCF3/E2A gene, is associated with pre-B-cell acute lymphoblastic leukemia. The resulting fusion protein, in which the DNA binding domain of E2A is replaced by the DNA binding domain of this protein, transforms cells by constitutively activating transcription of genes regulated by the PBX protein family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2017] Expression Ubiquitous expression in endometrium (RPKM 55.3), gall bladder (RPKM 19.2) and 22 other tissues See more Orthologs mouse all
PBX1-AS1, Official Symbol PBX1-AS1provided by HGNC Official Full Name PBX1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40425 See related Ensembl:ENSG00000233693 AllianceGenome:HGNC:40425 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
PBX2, Official Symbol PBX2provided by HGNC Official Full Name PBX homeobox 2provided by HGNC Primary source HGNC:HGNC:8633 See related Ensembl:ENSG00000204304 MIM:176311; AllianceGenome:HGNC:8633 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 G17; HOX12; PBX2MHC Summary This gene encodes a ubiquitously expressed member of the TALE/PBX homeobox family. It was identified by its similarity to a homeobox gene which is involved in t(1;19) translocation in acute pre-B-cell leukemias. This protein is a transcriptional activator which binds to the TLX1 promoter. The gene is located within the major histocompatibility complex (MHC) on chromosome 6. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in placenta (RPKM 34.1), spleen (RPKM 33.9) and 25 other tissues See more Orthologs mouse all
PBX3, Official Symbol PBX3provided by HGNC Official Full Name PBX homeobox 3provided by HGNC Primary source HGNC:HGNC:8634 See related Ensembl:ENSG00000167081 MIM:176312; AllianceGenome:HGNC:8634 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in animal organ development; neuron development; and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including adult locomotory behavior; dorsal spinal cord development; and regulation of respiratory gaseous exchange by nervous system process. Predicted to be located in nucleus. Predicted to be part of chromatin. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 28.9), ovary (RPKM 26.1) and 25 other tissues See more Orthologs mouse all
PBX4, Official Symbol PBX4provided by HGNC Official Full Name PBX homeobox 4provided by HGNC Primary source HGNC:HGNC:13403 See related Ensembl:ENSG00000105717 MIM:608127; AllianceGenome:HGNC:13403 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a member of the pre-B cell leukemia transcription factor family. These proteins are homeobox proteins that play critical roles in embryonic development and cellular differentiation both as Hox cofactors and through Hox-independent pathways. The encoded protein contains a homeobox DNA-binding domain, but specific functions of the protein have not been determined. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2011] Expression Broad expression in thyroid (RPKM 3.9), testis (RPKM 2.5) and 18 other tissues See more Orthologs mouse all
PBXIP1, Official Symbol PBXIP1provided by HGNC Official Full Name PBX homeobox interacting protein 1provided by HGNC Primary source HGNC:HGNC:21199 See related Ensembl:ENSG00000163346 MIM:618819; AllianceGenome:HGNC:21199 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 HPIP Summary The protein encoded by this gene interacts with the PBX1 homeodomain protein, inhibiting its transcriptional activation potential by preventing its binding to DNA. The encoded protein, which is primarily cytosolic but can shuttle to the nucleus, also can interact with estrogen receptors alpha and beta and promote the proliferation of breast cancer, brain tumors, and lung cancer. Several transcript variants encoding different isoforms have been found for this gene. More variants exist, but their full-length natures have yet to be determined. [provided by RefSeq, Dec 2015] Expression Ubiquitous expression in ovary (RPKM 58.0), adrenal (RPKM 56.0) and 25 other tissues See more Orthologs mouse all