• Gene id: 151313

Gene Summary

• Gene Symbol: FAHD2B   Gene   UCSC   Ensembl
• Gene name: fumarylacetoacetate hydrolase domain containing 2B
• Alternate names: fumarylacetoacetate hydrolase domain-containing protein 2B,
• Gene location: 2q11.2 (97094881: 97080737)     Exons: 11     NC_000002.12

Protein Summary

• Protein general information: Q6P2I3  
  • Name: Fumarylacetoacetate hydrolase domain containing protein 2B (EC 3. . . )
  • Length: 314  
  • Mass: 34613
• Sequence:

  MLVSGRRRLLTALLQAQKWPFQPSRDMRLVQFRAPHLVGPHLGLETGNGGGVINLNAFDPTLPKTMTQFLEQGEA
  TLSVARRALAAQLPVLPWSEVTFLAPVTWPDKVVCVGMNYVDHCKEQNVPVPKEPIIFSKFASSIVGPYDEVVLP
  PQSQEVDWEVELAVVIGKKGKHIKATDAMAHVAGFTVAHDVSARDWLTRRNGKQWLLGKTFDTFCPLGPALVTKD
  SVADPHNLKICCRVNGEVVQSSNTNQMVFKTEDLIAWVSQFVTFYPGDVILTGTPPGVGVFRKPPVFLKKGDEVQ
  CEIEELGVIINKVV

• Structural information:
  • Interpro: IPR011234  IPR036663  
  • STRING: ENSP00000410470
• Other Databases: GeneCards:  FAHD2B  Malacards:  FAHD2B

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:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016836	hydro-lyase activity	IBA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R