• Gene id: 89894

Gene Summary

• Gene Symbol: TMEM116   Gene   UCSC   Ensembl
• Gene name: transmembrane protein 116
• Alternate names: transmembrane protein 116,
• Gene location: 12q24.12-q24.13 (112013218: 111894879)     Exons: 17     NC_000012.12

Protein Summary

• Protein general information: Q8NCL8  
  • Name: Transmembrane protein 116
  • Length: 245  
  • Mass: 27464
• Sequence:

  MKHTQSGQSTSPLVIDYTCRVCQMAFVFSSLIPLLLMTPVFCLGNTSECFQNFSQSHKCILMHSPPSAMAELPPS
  ANTSVCSTLYFYGIAIFLGSFVLSLLTIMVLLIRAQTLYKKFVKSTGFLGSEQWAVIHIVDQRVRFYPVAFFCCW
  GPAVILMIIKLTKPQDTKLHMALYVLQALTATSQGLLNCGVYGWTQHKFHQLKQEARRDADTQTPLLCSQKRFYS
  RGLNSLESTLTFPASTSTIF

• Structural information:
  • STRING: ENSP00000447731
• Other Databases: GeneCards:  TMEM116  Malacards:  TMEM116

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0008150	biological_process	ND	biological process
GO:0005575	cellular_component	ND	cellular component
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray