• Gene id: 27433

Gene Summary

• Gene Symbol: TOR2A   Gene   UCSC   Ensembl
• Aliases: TORP1
• Gene name: torsin family 2 member A
• Alternate names: prosalusin, salusin-beta, torsin-2A, torsin-related protein 1,
• Gene location: 9q34.11 (101677131: 101648888)     Exons: 13     NC_000003.12
• Gene summary(Entrez): This gene encodes a member of the AAA family of adenosine triphosphatases with similarity to Clp proteases and heat shock proteins. Alternative splicing at this locus results in the translation of multiple isoforms of the encoded protein, some of which co
• OMIM: 608052

Protein Summary

• Protein general information: Q5JU69  
  • Name: Torsin 2A (Torsin family 2 member A) (Torsin related protein 1)
  • Length: 321  
  • Mass: 35714
  • Tissue specificity: Isoform 1 is expressed ubiquitously, except in cardiac and endothelial tissues. {ECO
• Sequence:

  MAAATRGCRPWGSLLGLLGLVSAAAAAWDLASLRCTLGAFCECDFRPDLPGLECDLAQHLAGQHLAKALVVKALK
  AFVRDPAPTKPLVLSLHGWTGTGKSYVSSLLAHYLFQGGLRSPRVHHFSPVLHFPHPSHIERYKKDLKSWVQGNL
  TACGRSLFLFDEMDKMPPGLMEVLRPFLGSSWVVYGTNYRKAIFIFISNTGGKQINQVALEAWRSRRDREEILLQ
  ELEPVISRAVLDNPHHGFSNSGIMEERLLDAVVPFLPLQRHHVRHCVLNELAQLGLEPRDEVVQAVLDSTTFFPE
  DEQLFSSNGCKTVASRIAFFL

• Structural information:
  • Interpro: IPR003593  IPR001270  IPR027417  IPR010448  IPR017378  
  • DIP: 59332
  • STRING: ENSP00000362381
• Other Databases: GeneCards:  TOR2A  Malacards:  TOR2A
• Protein general information: Q8N2E6  
  
  Name: Prosalusin (Torsin family 2 member A) (Torsin 2A) [Cleaved into: Salusin alpha; Salusin beta]
  
  Length: 242  Mass: 26262
  
  Tissue specificity: Isoform 4 is ubiquitously expressed, with high level in vascular endothelial cells and vascular smooth muscle cells. {ECO
• Sequence: MAAATRGCRPWGSLLGLLGLVSAAAAAWDLASLRCTLGAFCECDFRPDLPGLECDLAQHLAGQHLAKALVVKALK
  AFVRDPAPTKPLVLSLHGWTGTGKSYVSSLLAHYLFQGGLRSPRVHHFSPVLHFPHPSHIERYKKDLKSWVQGNL
  TACGRSLFLFDEMDKMPPGLMEVLRPFLGSSWVVYGTNYRKAIFIFIRWLLKLGHHGRAPPRRSGALPPAPAAPR
  PALRAQRAGPAGPGAKG
• Structural information:

  Interpro:

  IPR027417  IPR010448

• Other Databases: GeneCards:  TOR2A  Malacards:  TOR2A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005788	endoplasmic reticulum lumen	IBA	cellular component
GO:0016887	ATPase activity	IBA	molecular function
GO:0005635	nuclear envelope	IBA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0051085	chaperone cofactor-dependent protein refolding	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005788	endoplasmic reticulum lumen	IDA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component
GO:0042802	identical protein binding	IEA	molecular function
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq