psui3905/ncbi_genes_summary huggingface dataset:
NXPH1, Official Symbol NXPH1provided by HGNC Official Full Name neurexophilin 1provided by HGNC Primary source HGNC:HGNC:20693 See related Ensembl:ENSG00000122584 MIM:604639; AllianceGenome:HGNC:20693 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 NPH1; Nbla00697 Summary This gene is a member of the neurexophilin family and encodes a secreted protein with a variable N-terminal domain, a highly conserved, N-glycosylated central domain, a short linker region, and a cysteine-rich C-terminal domain. This protein forms a very tight complex with alpha neurexins, a group of proteins that promote adhesion between dendrites and axons. [provided by RefSeq, Jul 2008] Expression Biased expression in adrenal (RPKM 15.5) and brain (RPKM 12.8) See more Orthologs mouse all
NXPH2, Official Symbol NXPH2provided by HGNC Official Full Name neurexophilin 2provided by HGNC Primary source HGNC:HGNC:8076 See related Ensembl:ENSG00000144227 MIM:604635; AllianceGenome:HGNC:8076 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 NPH2 Summary Predicted to enable signaling receptor binding activity. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in ovary (RPKM 3.7), kidney (RPKM 2.6) and 2 other tissues See more Orthologs mouse all
NXPH3, Official Symbol NXPH3provided by HGNC Official Full Name neurexophilin 3provided by HGNC Primary source HGNC:HGNC:8077 See related Ensembl:ENSG00000182575 MIM:604636; AllianceGenome:HGNC:8077 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 NPH3 Summary Predicted to enable signaling receptor binding activity. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 6.5), endometrium (RPKM 3.8) and 18 other tissues See more Orthologs mouse all
NXPH4, Official Symbol NXPH4provided by HGNC Official Full Name neurexophilin 4provided by HGNC Primary source HGNC:HGNC:8078 See related Ensembl:ENSG00000182379 MIM:604637; AllianceGenome:HGNC:8078 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 NPH4 Summary Predicted to enable signaling receptor binding activity. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in skin (RPKM 4.7), brain (RPKM 3.2) and 13 other tissues See more Orthologs mouse all
NXT1, Official Symbol NXT1provided by HGNC Official Full Name nuclear transport factor 2 like export factor 1provided by HGNC Primary source HGNC:HGNC:15913 See related Ensembl:ENSG00000132661 MIM:605811; AllianceGenome:HGNC:15913 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 P15; MTR2 Summary The protein encoded by this gene is located in the nuclear envelope. It has protein similarity to nuclear transport factor 2. This protein functions as a nuclear export factor in both RAN (Ras-related nuclear protein)- and CRM1 (required for chromosome region maintenance)-dependent pathways. It is found to stimulate the export of U1 snRNA in RAN- and CRM1-dependent pathways and the export of tRNA and mRNA in a CRM1-independent pathway. The encoded protein heterodimerizes with Tap protein and may regulate the ability of Tap protein to mediate nuclear mRNA export. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 13.5), testis (RPKM 6.3) and 25 other tissues See more Orthologs mouse all
NXT1-AS1, Official Symbol NXT1-AS1provided by HGNC Official Full Name NXT1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40734 See related AllianceGenome:HGNC:40734 Gene type ncRNA RefSeq status MODEL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
NXT2, Official Symbol NXT2provided by HGNC Official Full Name nuclear transport factor 2 like export factor 2provided by HGNC Primary source HGNC:HGNC:18151 See related Ensembl:ENSG00000101888 MIM:300320; AllianceGenome:HGNC:18151 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 P15-2 Summary The protein encoded by this gene contains a nuclear transport factor 2 (NTF2) domain, which plays an important role in the trafficking of macromolecules, ions, and small molecules between the cytoplasm and nucleus. This protein may also have a role in mRNA nuclear export. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jun 2011] Expression Broad expression in testis (RPKM 16.8), bone marrow (RPKM 5.3) and 23 other tissues See more Orthologs mouse all
NYAP1, Official Symbol NYAP1provided by HGNC Official Full Name neuronal tyrosine phosphorylated phosphoinositide-3-kinase adaptor 1provided by HGNC Primary source HGNC:HGNC:22009 See related Ensembl:ENSG00000166924 MIM:615477; AllianceGenome:HGNC:22009 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 C7orf51 Summary Predicted to be involved in neuron projection morphogenesis and phosphatidylinositol 3-kinase signaling. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 8.0), testis (RPKM 3.2) and 5 other tissues See more Orthologs mouse all
NYAP2, Official Symbol NYAP2provided by HGNC Official Full Name neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2provided by HGNC Primary source HGNC:HGNC:29291 See related Ensembl:ENSG00000144460 MIM:615478; AllianceGenome:HGNC:29291 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 KIAA1486 Summary Predicted to be involved in neuron projection morphogenesis and phosphatidylinositol 3-kinase signaling. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
NYNRIN, Official Symbol NYNRINprovided by HGNC Official Full Name NYN domain and retroviral integrase containingprovided by HGNC Primary source HGNC:HGNC:20165 See related Ensembl:ENSG00000205978 MIM:620129; AllianceGenome:HGNC:20165 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 CGIN1; KIAA1305 Summary Predicted to enable endoribonuclease activity and mRNA binding activity. Predicted to be involved in RNA phosphodiester bond hydrolysis, endonucleolytic. Predicted to be integral component of membrane. Predicted to be active in cytoplasmic ribonucleoprotein granule and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 19.4), endometrium (RPKM 6.6) and 22 other tissues See more Orthologs mouse all
NYX, Official Symbol NYXprovided by HGNC Official Full Name nyctalopinprovided by HGNC Primary source HGNC:HGNC:8082 See related Ensembl:ENSG00000188937 MIM:300278; AllianceGenome:HGNC:8082 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 CLRP; NBM1; CSNB1; CSNB4; CSNB1A Summary The product of this gene belongs to the small leucine-rich proteoglycan (SLRP) family of proteins. Defects in this gene are the cause of congenital stationary night blindness type 1 (CSNB1), also called X-linked congenital stationary night blindness (XLCSNB). CSNB1 is a rare inherited retinal disorder characterized by impaired scotopic vision, myopia, hyperopia, nystagmus and reduced visual acuity. The role of other SLRP proteins suggests that mutations in this gene disrupt developing retinal interconnections involving the ON-bipolar cells, leading to the visual losses seen in patients with complete CSNB. [provided by RefSeq, Oct 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
OAF, Official Symbol OAFprovided by HGNC Official Full Name out at first homologprovided by HGNC Primary source HGNC:HGNC:28752 See related Ensembl:ENSG00000184232 AllianceGenome:HGNC:28752 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 NS5ATP13TP2 Expression Ubiquitous expression in liver (RPKM 56.8), colon (RPKM 31.5) and 24 other tissues See more Orthologs mouse all
OARD1, Official Symbol OARD1provided by HGNC Official Full Name O-acyl-ADP-ribose deacylase 1provided by HGNC Primary source HGNC:HGNC:21257 See related Ensembl:ENSG00000124596 MIM:614393; AllianceGenome:HGNC:21257 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 TARG1; C6orf130; dJ34B21.3 Summary The protein encoded by this gene is a deacylase that can convert O-acetyl-ADP-ribose to ADP-ribose and acetate, O-propionyl-ADP-ribose to ADP-ribose and propionate, and O-butyryl-ADP-ribose to ADP-ribose and butyrate. The ADP-ribose product is able to inhibit these reactions through a competitive feedback loop. [provided by RefSeq, Jul 2016] Expression Ubiquitous expression in testis (RPKM 36.5), thyroid (RPKM 20.0) and 25 other tissues See more Orthologs mouse all
OAS1, Official Symbol OAS1provided by HGNC Official Full Name 2'-5'-oligoadenylate synthetase 1provided by HGNC Primary source HGNC:HGNC:8086 See related Ensembl:ENSG00000089127 MIM:164350; AllianceGenome:HGNC:8086 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 OIAS; IFI-4; OIASI; IMD100; E18/E16 Summary This interferon-induced gene encodes a protein that synthesizes 2',5'-oligoadenylates (2-5As). This protein plays a key role in innate cellular antiviral response, and has been implicated in other cellular processes like cell growth and apoptosis. Alternative splicing results in multiple transcript variants with different enzymatic activities. Polymorphisms in this gene have been associated with susceptibility to viral infection, including SARS-CoV-2, and diabetes mellitus, type 1. This gene is located in a cluster of related genes on chromosome 12. [provided by RefSeq, May 2022] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity. Expression Ubiquitous expression in spleen (RPKM 18.0), colon (RPKM 15.8) and 24 other tissues See more Orthologs all
OAS2, Official Symbol OAS2provided by HGNC Official Full Name 2'-5'-oligoadenylate synthetase 2provided by HGNC Primary source HGNC:HGNC:8087 See related Ensembl:ENSG00000111335 MIM:603350; AllianceGenome:HGNC:8087 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 2-5A synthetase family, essential proteins involved in the innate immune response to viral infection. The encoded protein is induced by interferons and uses adenosine triphosphate in 2'-specific nucleotidyl transfer reactions to synthesize 2',5'-oligoadenylates (2-5As). These molecules activate latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. The three known members of this gene family are located in a cluster on chromosome 12. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity. Expression Broad expression in spleen (RPKM 18.2), lymph node (RPKM 14.1) and 22 other tissues See more Orthologs all
OAS3, Official Symbol OAS3provided by HGNC Official Full Name 2'-5'-oligoadenylate synthetase 3provided by HGNC Primary source HGNC:HGNC:8088 See related Ensembl:ENSG00000111331 MIM:603351; AllianceGenome:HGNC:8088 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 p100; p100OAS Summary This gene encodes an enzyme included in the 2', 5' oligoadenylate synthase family. This enzyme is induced by interferons and catalyzes the 2', 5' oligomers of adenosine in order to bind and activate RNase L. This enzyme family plays a significant role in the inhibition of cellular protein synthesis and viral infection resistance. [provided by RefSeq, Jul 2008] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity. Expression Ubiquitous expression in spleen (RPKM 15.4), bone marrow (RPKM 10.1) and 24 other tissues See more Orthologs mouse all
OASL, Official Symbol OASLprovided by HGNC Official Full Name 2'-5'-oligoadenylate synthetase likeprovided by HGNC Primary source HGNC:HGNC:8090 See related Ensembl:ENSG00000135114 MIM:603281; AllianceGenome:HGNC:8090 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 OASL1; OASLd; TRIP14; TRIP-14; p59OASL; p59 OASL; p59-OASL Summary Enables DNA binding activity and double-stranded RNA binding activity. Involved in several processes, including interleukin-27-mediated signaling pathway; negative regulation of viral genome replication; and positive regulation of RIG-I signaling pathway. Located in cytosol; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in bone marrow (RPKM 19.8), stomach (RPKM 11.1) and 13 other tissues See more Orthologs all
OASL2P, Official Symbol OASL2Pprovided by HGNC Official Full Name 2'-5' oligoadenylate synthetase like 2, pseudogeneprovided by HGNC Primary source HGNC:HGNC:53738 See related Ensembl:ENSG00000283542 AllianceGenome:HGNC:53738 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable 2'-5'-oligoadenylate synthetase activity and double-stranded RNA binding activity. Predicted to be involved in purine nucleotide biosynthetic process. Predicted to act upstream of or within interleukin-27-mediated signaling pathway. [provided by Alliance of Genome Resources, Apr 2022]
OAT, Official Symbol OATprovided by HGNC Official Full Name ornithine aminotransferaseprovided by HGNC Primary source HGNC:HGNC:8091 See related Ensembl:ENSG00000065154 MIM:613349; AllianceGenome:HGNC:8091 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 OKT; GACR; HOGA; OATASE Summary This gene encodes the mitochondrial enzyme ornithine aminotransferase, which is a key enzyme in the pathway that converts arginine and ornithine into the major excitatory and inhibitory neurotransmitters glutamate and GABA. Mutations that result in a deficiency of this enzyme cause the autosomal recessive eye disease Gyrate Atrophy. Alternatively spliced transcript variants encoding different isoforms have been described. Related pseudogenes have been defined on the X chromosome. [provided by RefSeq, Jan 2010] Expression Broad expression in small intestine (RPKM 198.3), duodenum (RPKM 185.5) and 20 other tissues See more Orthologs mouse all
OAZ1, Official Symbol OAZ1provided by HGNC Official Full Name ornithine decarboxylase antizyme 1provided by HGNC Primary source HGNC:HGNC:8095 See related Ensembl:ENSG00000104904 MIM:601579; AllianceGenome:HGNC:8095 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 AZ1; AZI; OAZ Summary The protein encoded by this gene belongs to the ornithine decarboxylase antizyme family, which plays a role in cell growth and proliferation by regulating intracellular polyamine levels. Expression of antizymes requires +1 ribosomal frameshifting, which is enhanced by high levels of polyamines. Antizymes in turn bind to and inhibit ornithine decarboxylase (ODC), the key enzyme in polyamine biosynthesis; thus, completing the auto-regulatory circuit. This gene encodes antizyme 1, the first member of the antizyme family, that has broad tissue distribution, and negatively regulates intracellular polyamine levels by binding to and targeting ODC for degradation, as well as inhibiting polyamine uptake. Antizyme 1 mRNA contains two potential in-frame AUGs; and studies in rat suggest that alternative use of the two translation initiation sites results in N-terminally distinct protein isoforms with different subcellular localization. Alternatively spliced transcript variants have also been noted for this gene. [provided by RefSeq, Dec 2014] Expression Ubiquitous expression in bone marrow (RPKM 404.8), lymph node (RPKM 286.9) and 25 other tissues See more Orthologs mouse all
OAZ2, Official Symbol OAZ2provided by HGNC Official Full Name ornithine decarboxylase antizyme 2provided by HGNC Primary source HGNC:HGNC:8096 See related Ensembl:ENSG00000180304 MIM:604152; AllianceGenome:HGNC:8096 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 AZ2 Summary The protein encoded by this gene belongs to the ornithine decarboxylase antizyme family, which plays a role in cell growth and proliferation by regulating intracellular polyamines. Expression of antizymes requires +1 ribosomal frameshifting, which is enhanced by high levels of polyamines. Antizymes in turn bind to and inhibit ornithine decarboxylase (ODC), the key enzyme in polyamine biosynthesis; thus, completing the auto-regulatory circuit. This gene encodes antizyme 2, the second member of the antizyme family. Like antizyme 1, antizyme 2 has broad tissue distribution, inhibits ODC activity and polyamine uptake, and stimulates ODC degradation in vivo; however, it fails to promote ODC degradation in vitro. Antizyme 2 is expressed at lower levels than antizyme 1, but is evolutionary more conserved, suggesting it likely has an important biological role. Studies also show different subcellular localization of antizymes 1 and 2, indicating specific function for each antizyme in discrete compartments of the cell. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2014] Expression Ubiquitous expression in brain (RPKM 48.0), spleen (RPKM 41.8) and 25 other tissues See more Orthologs mouse all
OAZ3, Official Symbol OAZ3provided by HGNC Official Full Name ornithine decarboxylase antizyme 3provided by HGNC Primary source HGNC:HGNC:8097 See related Ensembl:ENSG00000143450 MIM:605138; AllianceGenome:HGNC:8097 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 AZ3; OAZ-t; TISP15 Summary The protein encoded by this gene belongs to the ornithine decarboxylase antizyme family, which plays a role in cell growth and proliferation by regulating intracellular polyamine levels. Expression of antizymes requires +1 ribosomal frameshifting, which is enhanced by high levels of polyamines. Antizymes in turn bind to and inhibit ornithine decarboxylase (ODC), the key enzyme in polyamine biosynthesis; thus, completing the auto-regulatory circuit. This gene encodes antizyme 3, the third member of the antizyme family. Like antizymes 1 and 2, antizyme 3 inhibits ODC activity and polyamine uptake; however, it does not stimulate ODC degradation. Also, while antizymes 1 and 2 have broad tissue distribution, expression of antizyme 3 is restricted to haploid germ cells in testis, suggesting a distinct role for this antizyme in spermiogenesis. Antizyme 3 gene knockout studies showed that homozygous mutant male mice were infertile, and indicated the likely role of this antizyme in the formation of a rigid connection between the sperm head and tail during spermatogenesis. Alternatively spliced transcript variants encoding different isoforms, including one resulting from the use of non-AUG (CUG) translation initiation codon, have been found for this gene. [provided by RefSeq, Dec 2014] Expression Biased expression in testis (RPKM 63.7) and prostate (RPKM 6.3) See more Orthologs mouse all
OBI1, Official Symbol OBI1provided by HGNC Official Full Name ORC ubiquitin ligase 1provided by HGNC Primary source HGNC:HGNC:20308 See related Ensembl:ENSG00000152193 MIM:615906; AllianceGenome:HGNC:20308 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 RNF219; C13orf7 Summary Enables chromatin binding activity and ubiquitin-protein transferase activity. Involved in protein autoubiquitination; protein monoubiquitination; and regulation of DNA replication. Located in chromatin. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 8.1), brain (RPKM 4.8) and 25 other tissues See more Orthologs mouse all
OBI1-AS1, Official Symbol OBI1-AS1provided by HGNC Official Full Name OBI1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:42700 See related Ensembl:ENSG00000234377 AllianceGenome:HGNC:42700 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 POU4F1-AS1; RNF219-AS1 Expression Ubiquitous expression in testis (RPKM 9.5), brain (RPKM 7.1) and 25 other tissues See more
OBP2A, Official Symbol OBP2Aprovided by HGNC Official Full Name odorant binding protein 2Aprovided by HGNC Primary source HGNC:HGNC:23380 See related Ensembl:ENSG00000122136 MIM:164320; AllianceGenome:HGNC:23380 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 OBP; LCN13; OBP2C; OBPIIa; hOBPIIa Summary This gene encodes a small extracellular protein belonging to the lipocalin superfamily. The protein is thought to transport small, hydrophobic, volatile molecules or odorants through the nasal mucus to olfactory receptors, and may also function as a scavenger of highly concentrated or toxic odors. The protein is expressed as a monomer in the nasal mucus, and can bind diverse types of odorants with a higher affinity for aldehydes and fatty acids. This gene and a highly similar family member are located in a cluster of lipocalin genes on chromosome 9. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] Expression Biased expression in testis (RPKM 2.5), skin (RPKM 0.2) and 1 other tissue See more Orthologs all
OBP2B, Official Symbol OBP2Bprovided by HGNC Official Full Name odorant binding protein 2Bprovided by HGNC Primary source HGNC:HGNC:23381 See related Ensembl:ENSG00000171102 MIM:604606; AllianceGenome:HGNC:23381 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 LCN14; OBPIIb Summary Predicted to enable small molecule binding activity. Predicted to be involved in chemosensory behavior. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 3.3) See more Orthologs mouse all
OBSCN, Official Symbol OBSCNprovided by HGNC Official Full Name obscurin, cytoskeletal calmodulin and titin-interacting RhoGEFprovided by HGNC Primary source HGNC:HGNC:15719 See related Ensembl:ENSG00000154358 MIM:608616; AllianceGenome:HGNC:15719 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 UNC89; RHABDO1; ARHGEF30 Summary The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein belongs to the family of giant sacromeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Broad expression in heart (RPKM 8.6), prostate (RPKM 2.9) and 15 other tissues See more Orthologs mouse all
OBSCN-AS1, Official Symbol OBSCN-AS1provided by HGNC Official Full Name OBSCN antisense RNA 1provided by HGNC Primary source HGNC:HGNC:32047 See related Ensembl:ENSG00000162913 AllianceGenome:HGNC:32047 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 C1orf145 Expression Low expression observed in reference dataset See more
OBSL1, Official Symbol OBSL1provided by HGNC Official Full Name obscurin like cytoskeletal adaptor 1provided by HGNC Primary source HGNC:HGNC:29092 See related Ensembl:ENSG00000124006 MIM:610991; AllianceGenome:HGNC:29092 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 Cytoskeletal adaptor proteins function in linking the internal cytoskeleton of cells to the cell membrane. This gene encodes a cytoskeletal adaptor protein, which is a member of the Unc-89/obscurin family. The protein contains multiple N- and C-terminal immunoglobulin (Ig)-like domains and a central fibronectin type 3 domain. Mutations in this gene cause 3M syndrome type 2. Alternatively spliced transcript variants encoding different isoforms have been found in this gene. [provided by RefSeq, Mar 2010] Expression Broad expression in ovary (RPKM 37.4), testis (RPKM 15.3) and 19 other tissues See more Orthologs mouse all
OC90, Official Symbol OC90provided by HGNC Official Full Name otoconin 90provided by HGNC Primary source HGNC:HGNC:8100 See related Ensembl:ENSG00000253117 MIM:601658; AllianceGenome:HGNC:8100 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 PLA2L Summary Predicted to enable calcium ion binding activity and structural molecule activity. Predicted to be involved in otolith mineralization. Predicted to be located in extracellular region. Predicted to be active in extracellular matrix. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
OCA2, Official Symbol OCA2provided by HGNC Official Full Name OCA2 melanosomal transmembrane proteinprovided by HGNC Primary source HGNC:HGNC:8101 See related Ensembl:ENSG00000104044 MIM:611409; AllianceGenome:HGNC:8101 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 P; BEY; PED; BEY1; BEY2; BOCA; EYCL; HCL3; EYCL2; EYCL3; SHEP1; D15S12 Summary This gene encodes the human homolog of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine, which is a precursor to melanin synthesis. It is involved in mammalian pigmentation, where it may control skin color variation and act as a determinant of brown or blue eye color. Mutations in this gene result in type 2 oculocutaneous albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Expression Biased expression in skin (RPKM 1.8), thyroid (RPKM 1.2) and 8 other tissues See more Orthologs mouse all
OCEL1, Official Symbol OCEL1provided by HGNC Official Full Name occludin/ELL domain containing 1provided by HGNC Primary source HGNC:HGNC:26221 See related Ensembl:ENSG00000099330 AllianceGenome:HGNC:26221 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 FWP009; S863-9 Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 11.9), colon (RPKM 9.3) and 25 other tissues See more Orthologs mouse all
OCIAD1, Official Symbol OCIAD1provided by HGNC Official Full Name OCIA domain containing 1provided by HGNC Primary source HGNC:HGNC:16074 See related Ensembl:ENSG00000109180 MIM:619596; AllianceGenome:HGNC:16074 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 OCIA; ASRIJ; TPA018 Summary Predicted to be involved in several processes, including hematopoietic stem cell homeostasis; positive regulation of receptor signaling pathway via JAK-STAT; and regulation of stem cell differentiation. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 53.3), brain (RPKM 50.0) and 25 other tissues See more Orthologs mouse all
OCIAD1-AS1, Official Symbol OCIAD1-AS1provided by HGNC Official Full Name OCIAD1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40751 See related Ensembl:ENSG00000248256 AllianceGenome:HGNC:40751 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
OCIAD2, Official Symbol OCIAD2provided by HGNC Official Full Name OCIA domain containing 2provided by HGNC Primary source HGNC:HGNC:28685 See related Ensembl:ENSG00000145247 MIM:619633; AllianceGenome:HGNC:28685 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 be involved in endocytosis; hematopoietic stem cell homeostasis; and positive regulation of receptor signaling pathway via JAK-STAT. Predicted to act upstream of or within response to bacterium. Predicted to be located in Golgi apparatus; endosome; and lysosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in kidney (RPKM 105.3), duodenum (RPKM 61.3) and 22 other tissues See more Orthologs mouse all
OCLN, Official Symbol OCLNprovided by HGNC Official Full Name occludinprovided by HGNC Primary source HGNC:HGNC:8104 See related Ensembl:ENSG00000197822 MIM:602876; AllianceGenome:HGNC:8104 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 BLCPMG; PTORCH1; PPP1R115 Summary This gene encodes an integral membrane protein that is required for cytokine-induced regulation of the tight junction paracellular permeability barrier. Mutations in this gene are thought to be a cause of band-like calcification with simplified gyration and polymicrogyria (BLC-PMG), an autosomal recessive neurologic disorder that is also known as pseudo-TORCH syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene is present 1.5 Mb downstream on the q arm of chromosome 5. [provided by RefSeq, Apr 2011] Expression Broad expression in thyroid (RPKM 16.6), lung (RPKM 10.9) and 18 other tissues See more Orthologs mouse all
OCM, Official Symbol OCMprovided by HGNC Official Full Name oncomodulinprovided by HGNC Primary source HGNC:HGNC:8105 See related Ensembl:ENSG00000122543 MIM:164795; AllianceGenome:HGNC:8105 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 OM; OCM1; ONCM Summary Oncomodulin is a high-affinity calcium ion-binding protein. It belongs to the superfamily of calmodulin proteins, also known as the EF-hand proteins. Oncomodulin is an oncodevelopmental protein found in early embryonic cells in the placenta and also in tumors. [provided by RefSeq, Jul 2008] Annotation information Note: There are two oncomodulin-like loci on chromosome 7 (GeneIDs 4951 and 654231). The nomenclature for the p and q arm locations was modified to agree with reports (including PMID: 1559707) that place the OCM gene on the p arm. [18 Jun 2007] Expression Low expression observed in reference dataset See more Orthologs mouse all
OCM2, Official Symbol OCM2provided by HGNC Official Full Name oncomodulin 2provided by HGNC Primary source HGNC:HGNC:34396 See related Ensembl:ENSG00000135175 AllianceGenome:HGNC:34396 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 OM; OCM Summary This gene is similar to the oncomodulin gene, a high-affinity calcium ion-binding protein that belongs to the superfamily of calmodulin proteins, also known as the EF-hand proteins. [provided by RefSeq, Jul 2008] Annotation information Note: There are two oncomodulin-like loci on chromosome 7 (GeneIDs 4951 and 654231). The nomenclature for the p and q arm locations was modified to agree with reports (including PMID: 1559707) that place the OCM gene on the p arm. [18 Jun 2007] Expression Low expression observed in reference dataset See more Orthologs all
OCRL, Official Symbol OCRLprovided by HGNC Official Full Name OCRL inositol polyphosphate-5-phosphataseprovided by HGNC Primary source HGNC:HGNC:8108 See related Ensembl:ENSG00000122126 MIM:300535; AllianceGenome:HGNC:8108 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 LOCR; DENT2; NPHL2; OCRL1; Dent-2; INPP5F; OCRL-1 Summary This gene encodes an inositol polyphosphate 5-phosphatase. This protein is involved in regulating membrane trafficking and is located in numerous subcellular locations including the trans-Golgi network, clathrin-coated vesicles and, endosomes and the plasma membrane. This protein may also play a role in primary cilium formation. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Expression Broad expression in testis (RPKM 21.7), adrenal (RPKM 15.8) and 25 other tissues See more Orthologs mouse all
OCSTAMP, Official Symbol OCSTAMPprovided by HGNC Official Full Name osteoclast stimulatory transmembrane proteinprovided by HGNC Primary source HGNC:HGNC:16116 See related Ensembl:ENSG00000149635 MIM:620432; AllianceGenome:HGNC:16116 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 OC-STAMP; C20orf123; dJ257E24.3 Summary The protein encoded by this gene is orthologous to the mouse osteoclast stimulatory transmembrane protein (OCSTAMP), which is a membrane-anchored cell surface receptor that promotes nucleation of osteoclasts. The mouse protein is also involved in bone resorption and osteoclast differentiation. [provided by RefSeq, Feb 2017] Expression Low expression observed in reference dataset See more Orthologs mouse all
ODAD1, Official Symbol ODAD1provided by HGNC Official Full Name outer dynein arm docking complex subunit 1provided by HGNC Primary source HGNC:HGNC:26560 See related Ensembl:ENSG00000105479 MIM:615038; AllianceGenome:HGNC:26560 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 CILD20; CCDC114 Summary This gene encodes a coiled-coil domain-containing protein that is a component of the outer dynein arm docking complex in cilia cells. Mutations in this gene may cause primary ciliary dyskinesia 20. [provided by RefSeq, May 2013] Expression Biased expression in testis (RPKM 9.6), lung (RPKM 2.2) and 3 other tissues See more Orthologs mouse all
ODAD2, Official Symbol ODAD2provided by HGNC Official Full Name outer dynein arm docking complex subunit 2provided by HGNC Primary source HGNC:HGNC:25583 See related Ensembl:ENSG00000169126 MIM:615408; AllianceGenome:HGNC:25583 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 gudu; ARMC4; CILD23 Summary The protein encoded by this gene contains ten Armadillo repeat motifs (ARMs) and one HEAT repeat, and is thought to be involved in ciliary and flagellar movement. This protein has been shown to localize to the ciliary axonemes and at the ciliary base of respiratory cells. Studies indicate that mutations in this gene cause partial outer dynein arm (ODA) defects in respiratory cilia. The cilia of cells with mutations in this gene displayed either reduced ciliary beat frequency and amplitude, or, complete immotility. Some individuals with primary ciliary dyskensia (PCD) have been shown to have mutations in this gene. PCD is characterized by chronic airway disease and left/right body asymmetry defects. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015] Expression Biased expression in testis (RPKM 10.4), lung (RPKM 1.0) and 1 other tissue See more Orthologs mouse all
ODAD3, Official Symbol ODAD3provided by HGNC Official Full Name outer dynein arm docking complex subunit 3provided by HGNC Primary source HGNC:HGNC:28303 See related Ensembl:ENSG00000198003 MIM:615956; AllianceGenome:HGNC:28303 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 ODA10; CILD30; CCDC151 Summary This gene encodes a protein containing coiled-coil domains. The encoded protein functions in outer dynein arm assembly and is required for motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014] Expression Broad expression in testis (RPKM 5.1), lung (RPKM 1.6) and 24 other tissues See more Orthologs mouse all
ODAD4, Official Symbol ODAD4provided by HGNC Official Full Name outer dynein arm docking complex subunit 4provided by HGNC Primary source HGNC:HGNC:25280 See related Ensembl:ENSG00000204815 MIM:617095; AllianceGenome:HGNC:25280 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 TTC25 Summary This gene encodes a tetratricopeptide repeat domain-containing protein that localizes to ciliary axonmenes and plays a role in the docking of the outer dynein arm to cilia. Mutations in this gene cause severely reduced ciliary motility and the disorder CILD35 (ciliary dyskinesia,primary, 35). Primary ciliary dyskinesia is often associated with recurrent respiratory infections, immotile spermatozoa, and situs inversus; an inversion in left-right body symmetry. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2017] Expression Biased expression in testis (RPKM 20.2) and lung (RPKM 1.7) See more Orthologs mouse all
ODAM, Official Symbol ODAMprovided by HGNC Official Full Name odontogenic, ameloblast associatedprovided by HGNC Primary source HGNC:HGNC:26043 See related Ensembl:ENSG00000109205 MIM:614843; AllianceGenome:HGNC:26043 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 APIN Summary Involved in several processes, including positive regulation of GTPase activity; positive regulation of epithelial cell proliferation involved in wound healing; and positive regulation of macromolecule metabolic process. Located in several cellular components, including extracellular space; mitotic spindle; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward salivary gland (RPKM 78.4) See more Orthologs mouse all
ODAPH, Official Symbol ODAPHprovided by HGNC Official Full Name odontogenesis associated phosphoproteinprovided by HGNC Primary source HGNC:HGNC:26300 See related Ensembl:ENSG00000174792 MIM:614829; AllianceGenome:HGNC:26300 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 AI2A4; C4orf26 Summary Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene is thought to encode an extracellular matrix acidic phosphoprotein that has a function in enamel mineralization during amelogenesis. Mutations in this gene are associated with recessive hypomineralized amelogenesis imperfecta. [provided by RefSeq, Oct 2012] Expression Biased expression in placenta (RPKM 1.1) and testis (RPKM 0.0) See more Orthologs mouse all
ODC1, Official Symbol ODC1provided by HGNC Official Full Name ornithine decarboxylase 1provided by HGNC Primary source HGNC:HGNC:8109 See related Ensembl:ENSG00000115758 MIM:165640; AllianceGenome:HGNC:8109 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 ODC; BABS; NEDBA; NEDBIA Summary This gene encodes the rate-limiting enzyme of the polyamine biosynthesis pathway which catalyzes ornithine to putrescine. The activity level for the enzyme varies in response to growth-promoting stimuli and exhibits a high turnover rate in comparison to other mammalian proteins. Originally localized to both chromosomes 2 and 7, the gene encoding this enzyme has been determined to be located on 2p25, with a pseudogene located on 7q31-qter. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Dec 2013] Expression Broad expression in testis (RPKM 67.6), bone marrow (RPKM 54.4) and 24 other tissues See more Orthologs mouse all
ODC1-DT, Official Symbol ODC1-DTprovided by HGNC Official Full Name ODC1 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:54070 See related AllianceGenome:HGNC:54070 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 lncRNA-MIF Expression Biased expression in testis (RPKM 5.7), thyroid (RPKM 0.7) and 7 other tissues See more