• Gene id: 84216

Gene Summary

• Gene Symbol: TMEM117   Gene   UCSC   Ensembl
• Gene name: transmembrane protein 117
• Alternate names: transmembrane protein 117,
• Gene location: 12q12 (43795762: 44389761)     Exons: 12     NC_000012.12

Protein Summary

• Protein general information: Q9H0C3  
  • Name: Transmembrane protein 117
  • Length: 514  
  • Mass: 60185
• Sequence:

  MGKDFRYYFQHPWSRMIVAYLVIFFNFLIFAEDPVSHSQTEANVIVVGNCFSFVTNKYPRGVGWRILKVLLWLLA
  ILTGLIAGKFLFHQRLFGQLLRLKMFREDHGSWMTMFFSTILFLFIFSHIYNTILLMDGNMGAYIITDYMGIRNE
  SFMKLAAVGTWMGDFVTAWMVTDMMLQDKPYPDWGKSARAFWKKGNVRITLFWTVLFTLTSVVVLVITTDWISWD
  KLNRGFLPSDEVSRAFLASFILVFDLLIVMQDWEFPHFMGDVDVNLPGLHTPHMQFKIPFFQKIFKEEYRIHITG
  KWFNYGIIFLVLILDLNMWKNQIFYKPHEYGQYIGPGQKIYTVKDSESLKDLNRTKLSWEWRSNHTNPRTNKTYV
  EGDMFLHSRFIGASLDVKCLAFVPSLIAFVWFGFFIWFFGRFLKNEPRMENQDKTYTRMKRKSPSEHSKDMGITR
  ENTQASVEDPLNDPSLVCIRSDFNEIVYKSSHLTSENLSSQLNESTSATEADQDPTTSKSTPTN

• Structural information:
  • Interpro: IPR029370  
  • STRING: ENSP00000266534
• Other Databases: GeneCards:  TMEM117  Malacards:  TMEM117

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070059	intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IBA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0070059	intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IMP	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq