• Gene id: 3294

Gene Summary

• Gene Symbol: HSD17B2   Gene   UCSC   Ensembl
• Aliases: EDH17B2, HSD17, SDR9C2
• Gene name: hydroxysteroid 17-beta dehydrogenase 2
• Alternate names: estradiol 17-beta-dehydrogenase 2, 17-beta-HSD 2, 17-beta-hydroxysteroid dehydrogenase type 2, 20 alpha-hydroxysteroid dehydrogenase, 20-alpha-HSD, E2DH, microsomal 17-beta-hydroxysteroid dehydrogenase, short chain dehydrogenase/reductase family 9C member,
• Gene location: 16q23.3 (82035252: 82098533)     Exons: 6     NC_000016.10
• OMIM: 109685

SNPs

rs180113

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.69928988T>C
NC_000017.10   g.67925129T>C|SEQ=[T/C]

Protein Summary

• Protein general information: P37059  
  • Name: Estradiol 17 beta dehydrogenase 2 (EC 1.1.1.62) (17 beta hydroxysteroid dehydrogenase type 2) (17 beta HSD 2) (20 alpha hydroxysteroid dehydrogenase) (20 alpha HSD) (E2DH) (Microsomal 17 beta hydroxysteroid dehydrogenase) (Short chain dehydrogenase/reduct
  • Length: 387  
  • Mass: 42,785
• Sequence:

  MSTFFSDTAWICLAVPTVLCGTVFCKYKKSSGQLWSWMVCLAGLCAVCLLILSPFWGLILFSVSCFLMYTYLSGQ
  ELLPVDQKAVLVTGGDCGLGHALCKYLDELGFTVFAGVLNENGPGAEELRRTCSPRLSVLQMDITKPVQIKDAYS
  KVAAMLQDRGLWAVINNAGVLGFPTDGELLLMTDYKQCMAVNFFGTVEVTKTFLPLLRKSKGRLVNVSSMGGGAP
  MERLASYGSSKAAVTMFSSVMRLELSKWGIKVASIQPGGFLTNIAGTSDKWEKLEKDILDHLPAEVQEDYGQDYI
  LAQRNFLLLINSLASKDFSPVLRDIQHAILAKSPFAYYTPGKGAYLWICLAHYLPIGIYDYFAKRHFGQDKPMPR
  ALRMPNYKKKAT

• Structural information:
  • Interpro: IPR036291  IPR020904  IPR002347  
  • Prosite: PS00061
  • STRING: ENSP00000199936
• Other Databases: GeneCards:  HSD17B2  Malacards:  HSD17B2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001701	in utero embryonic development	IEA	biological process
GO:0001890	placenta development	IEA	biological process
GO:0004303	estradiol 17-beta-dehydrogenase activity	IDA	molecular function
GO:0004303	estradiol 17-beta-dehydrogenase activity	IDA	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0032526	response to retinoic acid	IDA	biological process
GO:0047006	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity	TAS	molecular function
GO:0047035	testosterone dehydrogenase (NAD+) activity	IDA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0001890	placenta development	IEA	biological process
GO:0004303	estradiol 17-beta-dehydrogenase activity	IEA	molecular function
GO:0004303	estradiol 17-beta-dehydrogenase activity	IDA	molecular function
GO:0004303	estradiol 17-beta-dehydrogenase activity	IDA	molecular function
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:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0032526	response to retinoic acid	IDA	biological process
GO:0047006	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity	TAS	molecular function
GO:0047035	testosterone dehydrogenase (NAD+) activity	IEA	molecular function
GO:0047035	testosterone dehydrogenase (NAD+) activity	IDA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0004303	estradiol 17-beta-dehydrogenase activity	IDA	molecular function
GO:0004303	estradiol 17-beta-dehydrogenase activity	IDA	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0032526	response to retinoic acid	IDA	biological process
GO:0047006	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity	TAS	molecular function
GO:0047035	testosterone dehydrogenase (NAD+) activity	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04913	Ovarian steroidogenesis

Diseases

Associated diseases	References
Cancer	GAD: 19692168
Cancer (lymphoma)	GAD: 18636124
Cancer (prostate)	GAD: 17507624
Cancer (colorectal)	GAD: 18510611
Cancer (esophageal)	GAD: 20453000
Cancer (lung)	GAD: 18676680
Cancer (bladder)	GAD: 19692168
Cancer (breast)	GAD: 17260097
Obesity	GAD: 20734064
Bone diseases	GAD: 19453261
Autism	GAD: 19598235
Chronic renal failure	GAD: 21085059
Spermatogenesis defects	GAD: 18980759
Pelvic endometriosis	INFBASE: 17505937
Polycystic ovary syndrome (PCOS)	INFBASE: 17953976
Deep infiltrating endometriosis	INFBASE: 16595205
Female infertility	INFBASE: 21232532
Ovarian endometriosis	INFBASE: 16815388
Azoospermia	MIK: 18980759
Pseudohermaphroditism	MIK: 8626842
Male factor infertility	MIK: 18980759
Spermatogenesis defects	MIK: 18980759
Oligozoospermia	MIK: 18980759
Male pseudohermaphroditism	MIK: 1325474
Endometriosis	INFBASE: 20108182
Chronic obstructive pulmonary disease (COPD)	GAD: 19625176
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Male pseudohermaphroditism	MIK: 1325474
Oligozoospermia	MIK: 18980759
Azoospermia	MIK: 18980759
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
8075637	Male pseudohermaphroditism				Male infertility
1325474	Male pseudohermaphroditism		Arabs i n gaza	44 (2 postpubertal male pseudohermaphroditism, 42 castrated controls )	Male infertility, Female infertility
18980759	Oligozoospermia, azoospermia, impaired spermatogenesis	(rs180113 of ER-alpha gene, rs1256049 of ER-beta gene, rs1048943 of CYP1A1 gene, rs8191246 of HSD17B2 gene, and rs1799941 along with rs6259 of SHBG gene	Taiwane se Han	303 (183 oligozoospermatic (sperm count <20 x 10(6)/mL) or azoospermatic males, 120 fertile control males)	Male infertility	ER-alpha ER-beta CYP17 CYP19A1 HSD17B2 CYP1A1 CYP1B1 COMT SHBG
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
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R