• Gene id: 150472

Gene Summary

• Gene Symbol: CBWD2   Gene   UCSC   Ensembl
• Gene name: COBW domain containing 2
• Alternate names: COBW domain-containing protein 2, cobalamin synthase W domain-containing protein 2, cobalamin synthetase W domain-containing protein 2,
• Gene location: 2q14.1 (113437690: 113496203)     Exons: 9     NC_000002.12
• OMIM: 611079

Protein Summary

• Protein general information: Q8IUF1  
  • Name: COBW domain containing protein 2 (Cobalamin synthase W domain containing protein 2)
  • Length: 395  
  • Mass: 44034
• Sequence:

  MLPAVGSADEEEDPAEEDCPELVPMETTQSEEEEKSGLGAKIPVTIITGYLGAGKTTLLNYILTEQHSKRVAVIL
  NEFGEGSALEKSLAVSQGGELYEEWLELRNGCLCCSVKDNGLRAIENLMQKKGKFDYILLETTGLADPGAVASMF
  WVDAELGSDIYLDGIITIVDSKYGLKHLAEEKPDGLINEATRQVALADAILINKTDLVPEEDVKKLRATIRSING
  LGQILETQRSRVDLSNVLDLHAFDSLSGISLQKKLQHVPGTQPHLDQSIVTITFEVPGNAKEEHLNMFIQNLLWE
  KNVRNKDNHCMEVIRLKGLVSIKDKSQQVIVQGVHELYDLEETPVSWKDDTERTNRLVLLGRNLDKDILKQLFIA
  TVTETEKQWTTHFKEDQVCT

• Structural information:
  • Protein Domains: (274..37-)
    (/note="CobW-C-terminal")
  • Interpro: IPR011629  IPR036627  IPR003495  IPR027417  
  • STRING: ENSP00000259199
• Other Databases: GeneCards:  CBWD2  Malacards:  CBWD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881