TOR2A

TOR2A
Identifiers
Aliases	TOR2A , TORP1, torsin family 2 member A
External IDs	OMIM: 608052; MGI: 1353596; HomoloGene: 25260; GeneCards: TOR2A; OMA:TOR2A - orthologs
Gene location (Human) Chr. Chromosome 9 (human) [1] Band 9q34.11 Start 127,731,524 bp [1] End 127,735,313 bp [1]
Gene location (Mouse) Chr. Chromosome 2 (mouse) [2] Band 2|2 B Start 32,757,234 bp [2] End 32,762,244 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in oocyte granulocyte monocyte mucosa of transverse colon gonad secondary oocyte left testis right testis blood spleen Top expressed in lacrimal gland internal carotid artery external carotid artery parotid gland seminal vesicula lobe of prostate vas deferens submandibular gland fossa yolk sac More reference expression data BioGPS n/a
Gene ontology Molecular function ATP binding nucleotide binding ATPase activity hormone activity Cellular component endoplasmic reticulum lumen endoplasmic reticulum nuclear envelope extracellular region Biological process protein homooligomerization chaperone cofactor-dependent protein refolding antimicrobial humoral immune response mediated by antimicrobial peptide regulation of signaling receptor activity positive regulation of gene expression vasopressin secretion water homeostasis positive regulation of calcium ion transmembrane transport signal transduction Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 27433 30933 Ensembl ENSG00000160404 ENSMUSG00000009563 UniProt Q5JU69 Q8N2E6 P0C7W3 Q8R1J9 RefSeq (mRNA) NM_001085347 NM_001134430 NM_001134431 NM_001252018 NM_001252021 NM_001252023 NM_130459 NM_152800 RefSeq (protein) NP_001078816 NP_001127902 NP_001127903 NP_001238947 NP_001238950 NP_001238952 NP_569726 NP_001127902.1 NP_690013 NP_001356151 NP_001356152 NP_001356153 NP_001356154 Location (UCSC) Chr 9: 127.73 – 127.74 Mb Chr 2: 32.76 – 32.76 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Torsin-2A is a protein that in humans is encoded by the TOR2A gene. ^{[5] [6]}

References

1. GRCh38: Ensembl release 89: ENSG00000160404 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000009563 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Ozelius LJ, Page CE, Klein C, Hewett JW, Mineta M, Leung J, Shalish C, Bressman SB, de Leon D, Brin MF, Fahn S, Corey DP, Breakefield XO (Mar 2000). "The TOR1A (DYT1) gene family and its role in early onset torsion dystonia". Genomics. 62 (3): 377–84. doi:10.1006/geno.1999.6039. PMID   10644435.
6. "Entrez Gene: TOR2A torsin family 2, member A".

Further reading

• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Shichiri M, Ishimaru S, Ota T, et al. (2003). "Salusins: newly identified bioactive peptides with hemodynamic and mitogenic activities". Nat. Med. 9 (9): 1166–72. doi:10.1038/nm913. PMID   12910263. S2CID   52806064.
• Clark HF, Gurney AL, Abaya E, et al. (2003). "The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC   403697 . PMID   12975309.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• Humphray SJ, Oliver K, Hunt AR, et al. (2004). "DNA sequence and analysis of human chromosome 9". Nature. 429 (6990): 369–74. Bibcode:2004Natur.429..369H. doi:10.1038/nature02465. PMC   2734081 . PMID   15164053.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–26. doi: 10.1093/dnares/12.2.117 . PMID   16303743.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC   1356129 . PMID   16344560.
• Wang Z, Takahashi T, Saito Y, et al. (2006). "Salusin beta is a surrogate ligand of the mas-like G protein-coupled receptor MrgA1". Eur. J. Pharmacol. 539 (3): 145–50. doi:10.1016/j.ejphar.2006.03.064. PMID   16697365.