• Gene id: 56898

Gene Summary

• Gene Symbol: BDH2   Gene   UCSC   Ensembl
• Aliases: DHRS6, EFA6R, PRO20933, SDR15C1, UCPA-OR, UNQ6308
• Gene name: 3-hydroxybutyrate dehydrogenase 2
• Alternate names: 3-hydroxybutyrate dehydrogenase type 2, 3-hydroxybutyrate dehydrogenase, type 2, R-beta-hydroxybutyrate dehydrogenase, dehydrogenase/reductase SDR family member 6, oxidoreductase UCPA, short chain dehydrogenase/reductase family 15C member 1,
• Gene location: 4q24 (103099861: 103077591)     Exons: 1     NC_000004.12

Protein Summary

• Protein general information: Q9BUT1  
  • Name: 3 hydroxybutyrate dehydrogenase type 2 (EC 1.1.1. ) (EC 1.1.1.30) (Dehydrogenase/reductase SDR family member 6) (Oxidoreductase UCPA) (R beta hydroxybutyrate dehydrogenase) (Short chain dehydrogenase/reductase family 15C member 1)
  • Length: 245  
  • Mass: 26724
  • Tissue specificity: Detected in liver (at protein level). {ECO
• Sequence:

  MGRLDGKVIILTAAAQGIGQAAALAFAREGAKVIATDINESKLQELEKYPGIQTRVLDVTKKKQIDQFANEVERL
  DVLFNVAGFVHHGTVLDCEEKDWDFSMNLNVRSMYLMIKAFLPKMLAQKSGNIINMSSVASSVKGVVNRCVYSTT
  KAAVIGLTKSVAADFIQQGIRCNCVCPGTVDTPSLQERIQARGNPEEARNDFLKRQKTGRFATAEEIAMLCVYLA
  SDESAYVTGNPVIIDGGWSL

• Structural information:
  • Interpro: IPR036291  IPR020904  IPR002347  
  • Prosite: PS00061
  • PDB: 2AG5
  • PDBsum: 2AG5
  • STRING: ENSP00000296424
• Other Databases: GeneCards:  BDH2  Malacards:  BDH2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006635	fatty acid beta-oxidation	IDA	biological process
GO:0051287	NAD binding	IDA	molecular function
GO:0003858	3-hydroxybutyrate dehydrogenase activity	IDA	molecular function
GO:0005739	mitochondrion	IDA	NOT|cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0019290	siderophore biosynthetic process	IBA	biological process
GO:0055072	iron ion homeostasis	IBA	biological process
GO:0016616	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0003858	3-hydroxybutyrate dehydrogenase activity	IBA	molecular function
GO:0042168	heme metabolic process	ISS	biological process
GO:0019290	siderophore biosynthetic process	ISS	biological process
GO:0016628	oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	ISS	molecular function
GO:0055072	iron ion homeostasis	ISS	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0003858	3-hydroxybutyrate dehydrogenase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0046951	ketone body biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0030855	epithelial cell differentiation	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00650	Butanoate metabolism
hsa00072	Synthesis and degradation of ketone bodies

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)