• Gene id: 51011

Gene Summary

• Gene Symbol: FAHD2A   Gene   UCSC   Ensembl
• Aliases: CGI-105
• Gene name: fumarylacetoacetate hydrolase domain containing 2A
• Alternate names: fumarylacetoacetate hydrolase domain-containing protein 2A, fumarylacetoacetate hydrolase domain containing 1,
• Gene location: 2q11.1 (95402671: 95416701)     Exons: 11     NC_000002.12
• OMIM: 300574

Protein Summary

• Protein general information: Q96GK7  
  • Name: Fumarylacetoacetate hydrolase domain containing protein 2A (EC 3. . . )
  • Length: 314  
  • Mass: 34596
• Sequence:

  MLVSGRRRLLTVLLQAQKWPFQPSRDMRLVQFRAPHLVGPHLGLETGNGGGVINLNAFDPTLPKTMTQFLEQGEA
  TLSVARRALAAQLPVLPRSEVTFLAPVTRPDKVVCVGMNYVDHCKEQNVPVPKEPIIFSKFASSIVGPYDEVVLP
  PQSQEVDWEVELAVVIGKKGKHIKATDAMAHVAGFTVAHDVSARDWQMRRNGKQWLLGKTFDTFCPLGPALVTKD
  SVADPHNLKICCRVNGEVVQSGNTNQMVFKTEDLIAWVSQFVTFYPGDVILTGTPPGVGVFRKPPVFLKKGDEVQ
  CEIEELGVIINKVV

• Structural information:
  • Interpro: IPR011234  IPR036663  
  • STRING: ENSP00000233379
• Other Databases: GeneCards:  FAHD2A  Malacards:  FAHD2A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016836	hydro-lyase activity	IBA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016836	hydro-lyase activity	IBA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq