• Gene id: 163590

Gene Summary

• Gene Symbol: TOR1AIP2   Gene   UCSC   Ensembl
• Aliases: IFRG15, LULL1, NET9
• Gene name: torsin 1A interacting protein 2
• Alternate names: torsin-1A-interacting protein 2, interferon alpha responsive protein, 15 kDa interferon-responsive protein, interferon responsive gene 15, lumenal domain like LAP1, torsin A interacting protein 2,
• Gene location: 1q25.2 (179877802: 179839975)     Exons: 10     NC_000001.11
• Gene summary(Entrez): One of the two protein isoforms encoded by this gene is a type II integral membrane protein found in the endoplasmic reticulum (ER). The encoded protein is a cofactor for the ATPase TorsinA, regulating the amount of TorsinA present in the ER compared to t
• OMIM: 614513

Protein Summary

• Protein general information: Q8NFQ8  
  • Name: Torsin 1A interacting protein 2 (Lumenal domain like LAP1)
  • Length: 470  
  • Mass: 51263
• Sequence:

  MADSGLREPQEDSQKDLENDPSVNSQAQETTIIASNAEEAEILHSACGLSKDHQEVETEGPESADTGDKSESPDE
  ANVGKHPKDKTEDENKQSFLDGGKGHHLPSENLGKEPLDPDPSHSPSDKVGRADAHLGSSSVALPKEASDGTGAS
  QEPPTTDSQEAQSPGHSSAGQEGEDTLRRRLLAPEAGSHPQQTQKLEEIKENAQDTMRQINKKGFWSYGPVILVV
  LVVAVVASSVNSYYSSPAQQVPKNPALEAFLAQFSQLEDKFPGQSSFLWQRGRKFLQKHLNASNPTEPATIIFTA
  AREGRETLKCLSHHVADAYTSSQKVSPIQIDGAGRTWQDSDTVKLLVDLELSYGFENGQKAAVVHHFESFPAGST
  LIFYKYCDHENAAFKDVALVLTVLLEEETLEASVGPRETEEKVRDLLWAKFTNSDTPTSFNHMDSDKLSGLWSRI
  SHLVLPVQPVSSIEEQGCLF

• Structural information:
  • Interpro: IPR008662  IPR038599  
  • PDB: 5J1S 5J1T
  • PDBsum: 5J1S 5J1T
  • STRING: ENSP00000356584
• Other Databases: GeneCards:  TOR1AIP2  Malacards:  TOR1AIP2
• Protein general information: Q9H496  
  
  Name: Torsin 1A interacting protein 2, isoform IFRG15 (15 kDa interferon responsive protein) (IFRG15)
  
  Length: 131  Mass: 15348
• Sequence: MFSDNSHCPDCGQQWFPSLELGHWLYQTELVENECYQVFLDRINRADYCPECYPDNPANRSLVLPWSFPLEWAPQ
  NLTRWTFEKACHPFLLGPPLVRKRIHDSRVAGFNPALQLILTRTDKTLNKKLGQNK
• Other Databases: GeneCards:  TOR1AIP2  Malacards:  TOR1AIP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0090435	protein localization to nuclear envelope	IDA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0032781	positive regulation of ATPase activity	IDA	biological process
GO:0032781	positive regulation of ATPase activity	IDA	biological process
GO:0001671	ATPase activator activity	IDA	molecular function
GO:0001671	ATPase activator activity	IDA	molecular function
GO:0051117	ATPase binding	IPI	molecular function
GO:0051117	ATPase binding	IPI	molecular function
GO:0007029	endoplasmic reticulum organization	IMP	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0031965	nuclear membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881