• Gene id: 388946

Gene Summary

• Gene Symbol: TMEM247   Gene   UCSC   Ensembl
• Gene name: transmembrane protein 247
• Alternate names: transmembrane protein 247, transmembrane protein ENSP00000343375,
• Gene location: 2p21 (46479564: 46484424)     Exons: 1     NC_000002.12

Protein Summary

• Protein general information: A6NEH6  
  • Name: Transmembrane protein 247
  • Length: 219  
  • Mass: 25168
• Sequence:

  MAAEDREMMEARGAGESCPTFPKMVPGDSKSEGKPRAYLEAESQKPDSSYDYLEEMEACEDGGCQGPLKSLSPKS
  CRATKGQAGDGPKPAELPPTPGTERNPEMELEKVRMEFELTRLKYLHEKNQRQRQHEVVMEQLQRERQHEVVMEQ
  LQQEAAPRLFSGGLQNFLLPQNQFAMFLYCFIFIHIIYVTKEMVFFLFAKHYLFCIAAILLCLIKTFWS

• Structural information:
  • Interpro: IPR029200  
  • STRING: ENSP00000388684
• Other Databases: GeneCards:  TMEM247  Malacards:  TMEM247

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IBA	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:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807

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)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)