• Gene id: 135886

Gene Summary

• Gene Symbol: TMEM270   Gene   UCSC   Ensembl
• Aliases: WBSCR28
• Gene name: transmembrane protein 270
• Alternate names: transmembrane protein 270, Williams-Beuren syndrome chromosome region 28, Williams-Beuren syndrome critical region 28, williams-Beuren syndrome chromosomal region 28 protein,
• Gene location: 7q11.23 (73860847: 73865891)     Exons: 6     NC_000007.14
• OMIM: 612547

Protein Summary

• Protein general information: Q6UE05  
  • Name: Transmembrane protein 270 (Williams Beuren syndrome chromosomal region 28 protein)
  • Length: 265  
  • Mass: 29433
• Sequence:

  MEALPPVRSSLLGILLQVTRLSVLLVQNRDHLYNFLLLKINLFNHWVSGLAQEARGSCNWQAHLPLGAAACPLGQ
  ALWAGLALIQVPVWLVLQGPRLMWAGMWGSTKGLGLALLSAWEQLGLSVAIWTDLFLSCLHGLMLVALLLVVVTW
  RVCQKSHCFRLGRQLSKALQVNCVVRKLLVQLRRLYWWVETMTALTSWHLAYLITWTTCLASHLLQAAFEHTTQL
  AEAQEVEPQEVSGSSLLPSLSASSDSESGTVLPEQETPRE

• Structural information:
  • Interpro: IPR029166  
  • STRING: ENSP00000316775
• Other Databases: GeneCards:  TMEM270  Malacards:  TMEM270

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

Diseases

Associated diseases	References
Williams-Beuren syndrome	KEGG:H01439
Williams-Beuren syndrome	KEGG:H01439
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)