TOR2A

Protein-coding gene in the species Homo sapiens
TOR2A
Identifiers
AliasesTOR2A, TORP1, torsin family 2 member A
External IDsOMIM: 608052; MGI: 1353596; HomoloGene: 25260; GeneCards: TOR2A; OMA:TOR2A - orthologs
Gene location (Human)
Chromosome 9 (human)
Chr.Chromosome 9 (human)[1]
Chromosome 9 (human)
Genomic location for TOR2A
Genomic location for TOR2A
Band9q34.11Start127,731,524 bp[1]
End127,735,313 bp[1]
Gene location (Mouse)
Chromosome 2 (mouse)
Chr.Chromosome 2 (mouse)[2]
Chromosome 2 (mouse)
Genomic location for TOR2A
Genomic location for TOR2A
Band2|2 BStart32,757,234 bp[2]
End32,762,244 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 2: 32.76 – 32.76 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000160404 – Ensembl, May 2017
  2. ^ a b c 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.


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