• Gene id: 7923

Gene Summary

• Gene Symbol: HSD17B8   Gene   UCSC   Ensembl
• Aliases: D6S2245E, FABG, FABGL, H2-KE6, HKE6, KE6, RING2, SDR30C1, dJ1033B10.9
• Gene name: hydroxysteroid 17-beta dehydrogenase 8
• Alternate names: estradiol 17-beta-dehydrogenase 8, 17-beta-HSD 8, 17-beta-hydroxysteroid dehydrogenase 8, 3-ketoacyl-[acyl-carrier-protein] reductase alpha subunit, 3-oxoacyl-[acyl-carrier-protein] reductase, KAR alpha subunit, estrogen 17-oxidoreductase, ke-6, protein Ke6, reall,
• Gene location: 6p21.32 (33204654: 33206830)     Exons: 9     NC_000006.12
• Gene summary(Entrez): In mice, the Ke6 protein is a 17-beta-hydroxysteroid dehydrogenase that can regulate the concentration of biologically active estrogens and androgens. It is preferentially an oxidative enzyme and inactivates estradiol, testosterone, and dihydrotestosteron
• OMIM: 601417

Protein Summary

• Protein general information: Q92506  
  • Name: Estradiol 17 beta dehydrogenase 8 (EC 1.1.1.62) (17 beta hydroxysteroid dehydrogenase 8) (17 beta HSD 8) (3 ketoacyl [acyl carrier protein] reductase alpha subunit) (KAR alpha subunit) (3 oxoacyl [acyl carrier protein] reductase) (EC 1.1.1. ) (Protein Ke6
  • Length: 261  
  • Mass: 26974
  • Tissue specificity: Highly expressed in placenta, liver and pancreas, lower in the skeletal muscle and kidney. Widely expressed. {ECO
• Sequence:

  MASQLQNRLRSALALVTGAGSGIGRAVSVRLAGEGATVAACDLDRAAAQETVRLLGGPGSKEGPPRGNHAAFQAD
  VSEARAARCLLEQVQACFSRPPSVVVSCAGITQDEFLLHMSEDDWDKVIAVNLKGTFLVTQAAAQALVSNGCRGS
  IINISSIVGKVGNVGQTNYAASKAGVIGLTQTAARELGRHGIRCNSVLPGFIATPMTQKVPQKVVDKITEMIPMG
  HLGDPEDVADVVAFLASEDSGYITGTSVEVTGGLFM

• Structural information:
  • Interpro: IPR036291  IPR020904  IPR002347  
  • Prosite: PS00061
  • PDB: 2PD6 4CQL 4CQM
  • PDBsum: 2PD6 4CQL 4CQM
  • STRING: ENSP00000363794
• Other Databases: GeneCards:  HSD17B8  Malacards:  HSD17B8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006633	fatty acid biosynthetic process	IBA	biological process
GO:0006703	estrogen biosynthetic process	IBA	biological process
GO:0048038	quinone binding	IBA	molecular function
GO:0055114	oxidation-reduction process	IBA	biological process
GO:0004303	estradiol 17-beta-dehydrogenase activity	IBA	molecular function
GO:0016616	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IBA	molecular function
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0006703	estrogen biosynthetic process	IDA	biological process
GO:0051290	protein heterotetramerization	IDA	biological process
GO:0070404	NADH binding	IDA	molecular function
GO:0004303	estradiol 17-beta-dehydrogenase activity	IDA	molecular function
GO:0006633	fatty acid biosynthetic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0047025	3-oxoacyl-[acyl-carrier-protein] reductase (NADH) activity	IMP	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0006633	fatty acid biosynthetic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0047035	testosterone dehydrogenase (NAD+) activity	IEA	molecular function
GO:0004303	estradiol 17-beta-dehydrogenase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0046949	fatty-acyl-CoA biosynthetic process	TAS	biological process
GO:0047035	testosterone dehydrogenase (NAD+) activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0008210	estrogen metabolic process	IEA	biological process
GO:0008209	androgen metabolic process	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005740	mitochondrial envelope	IEA	cellular component
GO:0004303	estradiol 17-beta-dehydrogenase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0006633	fatty acid biosynthetic process	IEA	biological process
GO:0006703	estrogen biosynthetic process	IEA	biological process
GO:0005759	mitochondrial matrix	IDA	cellular component
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01212	Fatty acid metabolism
hsa00140	Steroid hormone biosynthesis
hsa00061	Fatty acid biosynthesis

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