• Gene id: 340393

Gene Summary

• Gene Symbol: TMEM249   Gene   UCSC   Ensembl
• Aliases: C8ORFK29
• Gene name: transmembrane protein 249
• Alternate names: transmembrane protein 249, putative transmembrane protein C8orfK29,
• Gene location: 8q24.3 (144355608: 144353225)     Exons: 6     NC_000008.11
• OMIM: 609801

Protein Summary

• Protein general information: Q2WGJ8  
  • Name: Transmembrane protein 249
  • Length: 235  
  • Mass: 27046
• Sequence:

  MPKGRAGSLPTTSIGWRFQLWFLGLTCPERHLARRLKNNSFYPFVQQEPNVFVLEYYLDTLWKGMLLFIISVVLV
  SFSSLREVQKQETWVFLVYGVGVGLWLVISSLPRRRLVLNHTRGVYHFSIQGRTVCQGPLHLVYVRLALSSDAHG
  RCFFHLVLGGHRLEPLVLVQLSEHYEQMEYLGRYIARKLNINYFDYLATSYRHVVRHWPPPGAGTVMGKSPMGHK
  PSSSQSSLEV

• Structural information:
  • Interpro: IPR027861  
  • STRING: ENSP00000454468
• Other Databases: GeneCards:  TMEM249  Malacards:  TMEM249

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R