• Gene id: 3293

Gene Summary

• Gene Symbol: HSD17B3   Gene   UCSC   Ensembl
• Aliases: EDH17B3, SDR12C2
• Gene name: hydroxysteroid 17-beta dehydrogenase 3
• Alternate names: testosterone 17-beta-dehydrogenase 3, 17-beta-HSD 3, 17-beta-HSD3, 17-beta-hydroxysteroid dehydrogenase type 3, hydroxysteroid dehydrogenase 3, short chain dehydrogenase/reductase family 12C member 2, testicular 17-beta-hydroxysteroid dehydrogenase,
• Gene location: 9q22.32 (96313986: 96235305)     Exons: 16     NC_000009.12
• Gene summary(Entrez): This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result in male pseudohermaphroditism w
• OMIM: 605573

Protein Summary

• Protein general information: P37058  
  • Name: Testosterone 17 beta dehydrogenase 3 (EC 1.1.1.64) (17 beta hydroxysteroid dehydrogenase type 3) (17 beta HSD 3) (Short chain dehydrogenase/reductase family 12C member 2) (Testicular 17 beta hydroxysteroid dehydrogenase)
  • Length: 310  
  • Mass: 34,516
• Sequence:

  MGDVLEQFFILTGLLVCLACLAKCVRFSRCVLLNYWKVLPKSFLRSMGQWAVITGAGDGIGKAYSFELAKRGLNV
  VLISRTLEKLEAIATEIERTTGRSVKIIQADFTKDDIYEHIKEKLAGLEIGILVNNVGMLPNLLPSHFLNAPDEI
  QSLIHCNITSVVKMTQLILKHMESRQKGLILNISSGIALFPWPLYSMYSASKAFVCAFSKALQEEYKAKEVIIQV
  LTPYAVSTAMTKYLNTNVITKTADEFVKESLNYVTIGGETCGCLAHEILAGFLSLIPAWAFYSGAFQRLLLTHYV
  AYLKLNTKVR

• Structural information:
  • Interpro: IPR033281  IPR036291  IPR020904  IPR002347  
  • Prosite: PS00061
  • STRING: ENSP00000364412
• Other Databases: GeneCards:  HSD17B3  Malacards:  HSD17B3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006702	androgen biosynthetic process	TAS	biological process
GO:0030539	male genitalia development	IEA	biological process
GO:0043231	intracellular membrane-bounded organelle	TAS	cellular component
GO:0047035	testosterone dehydrogenase (NAD+) activity	TAS	molecular function
GO:0047045	testosterone 17-beta-dehydrogenase (NADP+) activity	IDA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0061370	testosterone biosynthetic process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0006702	androgen biosynthetic process	TAS	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0030539	male genitalia development	IEA	biological process
GO:0030539	male genitalia development	TAS	biological process
GO:0043231	intracellular membrane-bounded organelle	TAS	cellular component
GO:0047035	testosterone dehydrogenase (NAD+) activity	TAS	molecular function
GO:0047045	testosterone 17-beta-dehydrogenase (NADP+) activity	IEA	molecular function
GO:0047045	testosterone 17-beta-dehydrogenase (NADP+) activity	IEA	molecular function
GO:0047045	testosterone 17-beta-dehydrogenase (NADP+) activity	IDA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0061370	testosterone biosynthetic process	IEA	biological process
GO:0061370	testosterone biosynthetic process	IEA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006702	androgen biosynthetic process	TAS	biological process
GO:0030539	male genitalia development	TAS	biological process
GO:0043231	intracellular membrane-bounded organelle	TAS	cellular component
GO:0047035	testosterone dehydrogenase (NAD+) activity	TAS	molecular function
GO:0047045	testosterone 17-beta-dehydrogenase (NADP+) activity	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways

Diseases

Associated diseases	References
Cancer	GAD: 12210481
Cancer (colorectal)	GAD: 18510611
Cancer (esophageal)	GAD: 20453000
Cancer (prostate)	GAD: 12210481
Cancer (breast)	GAD: 20634197
Obesity	GAD: 20734064
Bone diseases	GAD: 19453261
Autism	GAD: 19598235
Chronic renal failure	GAD: 21085059
Female infertility	INFBASE: 25740850
Primary amenorrhea	INFBASE: 8991848
Primary amenorrhea	INFBASE: 23796702
Endometriosis	INFBASE: 23139742
Hypergonadotropic hypogonadism	INFBASE: 8991848
46,XY disorders of sex development	MIK: 21214500
Impaired testosterone synthesis	MIK: 9709959
Male pseudohermaphroditism	MIK: 9709959
Hypospadias	GAD: 16174723
Androgen insensitivity syndrome (AIS)	MIK: 17466011
46,XY Disorder of Sex Development	MIK: 22445608
Mild clitoral hypertrophy	MIK: 21214500
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Impaired testosterone synthesis	MIK: 9709959
Male pseudohermaphroditism	MIK: 9709959
XY sex reversal	MIK: 17466011
Androgen insensitivity syndrome (AIS)	MIK: 17466011

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
2998649	Male pseudohermaphroditism			3 with male pseudohermaphroditism	Male infertility
468973	Male pseudohermaphrodite			1 male pseudohermaphrodite	Male infertility
17466011	XY sex reversal, androgen insensitivity syndrome (AIS)	A56T, N130S, E215D, S232L, C268Y, V205E, and a novel mutation M197K		14 subjects with 17betaHSD3 deficiency	Male infertility
21214500	46,XY disorders of sex development, mild clitoral hypertrophy	R80W	Lebanes e	1 46,XY disorder of sex development	Male infertility
9709959	Male pseudohermaphroditism	HSD17B3 (289 (GGT --> AGT), (A56T), (N130S))			Male infertility	HSD17B3
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
22445608	46,XY Disorder of Sex Development	p.R80Q			Male infertility