Endometriosis Knowledgebase


A repository for genes associated with endometriosis

Search Result


Gene id 3293
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

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 with gynecomastia. [provided by RefSeq, Jul 2008]
OMIM 605573

SNPs

 rs2066479

Strand:    Allele origin:   Allele change: A/C/G/T   Mutation type: snp

CM000671.2   g.96235528C>T
NC_000009.11   g.98997810C>T
NC_000009.12   g.96235528C>T
NG_008157.1   g.71625G>A
NM_000197.1   c.865G>A
NP_000188.1   p.Gly289Ser
XP_005252026.1   p.Gly239Ser
XP_005252027.1   p.Gly169Ser
XP_005252028.1   p.Gly169Ser
XP_011516920.1   p.Gly289Ser
XP_011516921.1   p.Gly289Ser
XP_016870160.1   p.Gly289Ser
XP_016870161.1   p.Gly289Ser
XP_016870162.1   p.Gly277Ser
XP_016870163.1   p.Gly253Ser
XP_016870164.1   p.Gly235Ser
XP_016870166.1   p.Gly169Ser
Clinical Significance: Likely benign

rs2066480

Strand:    Allele origin:   Allele change: A/C/G   Mutation type: snp

CM000671.2   g.96302014C>G
CM000671.2   g.96302014C>T
NC_000009.11   g.99064296C>T
NC_000009.12   g.96302014C>G
NC_000009.12   g.96302014C>T
NG_008157.1   g.5139G>A
NG_008157.1   g.5139G>C
NM_000197.1   c.91G>A
NM_000197.1   c.91G>C
NP_000188.1   p.Val31Ile
NP_000188.1   p.Val31Leu
XP_005252026.1   p.Val31Ile
XP_011516920.1   p.Val31Ile
XP_011516920.1   p.Val31Leu
XP_011516921.1   p.Val31Ile
XP_011516921.1   p.Val31Leu
XP_016870160.1   p.Val31Ile
XP_016870160.1   p.Val31Leu
XP_016870161.1   p.Val31Ile
XP_016870161.1   p.Val31Leu
XP_016870162.1   p.Val31Ile
XP_016870162.1   p.Val31Leu
XP_016870163.1   p.Val31Ile
XP_016870163.1   p.Val31Leu
XP_016870164.1   p.Cys2Ser
XP_016870164.1   p.Cys2Tyr
XP_016870165.1   p.Val31Ile
XP_016870165.1   p.Val31Leu
Clinical Significance: Likely benign

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

Tissue specificity: Testis.

Sequence MGDVLEQFFILTGLLVCLACLAKCVRFSRCVLLNYWKVLPKSFLRSMGQWAVITGAGDGIGKAYSFELAKRGLNV
VLISRTLEKLEAIATEIERTTGRSVKIIQADFTKDDIYEHIKEKLAGLEIGILVNNVGMLPNLLPSHFLNAPDEI
QSLIHCNITSVVKMTQLILKHMESRQKGLILNISSGIALFPWPLYSMYSASKAFVCAFSKALQEEYKAKEVIIQV
LTPYAVSTAMTKYLNTNVITKTADEFVKESLNYVTIGGETCGCLAHEILAGFLSLIPAWAFYSGAFQRLLLTHYV
AYLKLNTKVR
Structural information
Interpro:  IPR033281 IPR016040 IPR020904 IPR002347
Prosite:   PS00061

Pfam:  		 PF00106
STRING:   ENSP00000364412;
Other Databases GeneCards:  HSD17B3;  Malacards:  HSD17B3

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0005783 endoplasmic reticulum
 IDA cellular_component
GO:0005789 endoplasmic reticulum mem
brane
 TAS cellular_component
GO:0006702 androgen biosynthetic pro
cess
 TAS biological_process
GO:0030539 male genitalia developmen
t
 IEA biological_process
GO:0043231 intracellular membrane-bo
unded organelle
 TAS cellular_component
GO:0047035 testosterone dehydrogenas
e (NAD+) activity
 TAS molecular_function
GO:0047045 testosterone 17-beta-dehy
drogenase (NADP+) activit
y
 IDA molecular_function
GO:0055114 oxidation-reduction proce
ss
 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 mem
brane
 TAS cellular_component
GO:0006629 lipid metabolic process
 IEA biological_process
GO:0006694 steroid biosynthetic proc
ess
 IEA biological_process
GO:0006702 androgen biosynthetic pro
cess
 TAS biological_process
GO:0016491 oxidoreductase activity
 IEA molecular_function
GO:0016491 oxidoreductase activity
 IEA molecular_function
GO:0030539 male genitalia developmen
t
 IEA biological_process
GO:0030539 male genitalia developmen
t
 TAS biological_process
GO:0043231 intracellular membrane-bo
unded organelle
 TAS cellular_component
GO:0047035 testosterone dehydrogenas
e (NAD+) activity
 TAS molecular_function
GO:0047045 testosterone 17-beta-dehy
drogenase (NADP+) activit
y
 IEA molecular_function
GO:0047045 testosterone 17-beta-dehy
drogenase (NADP+) activit
y
 IEA molecular_function
GO:0047045 testosterone 17-beta-dehy
drogenase (NADP+) activit
y
 IDA molecular_function
GO:0055114 oxidation-reduction proce
ss
 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 mem
brane
 TAS cellular_component
GO:0006702 androgen biosynthetic pro
cess
 TAS biological_process
GO:0030539 male genitalia developmen
t
 TAS biological_process
GO:0043231 intracellular membrane-bo
unded organelle
 TAS cellular_component
GO:0047035 testosterone dehydrogenas
e (NAD+) activity
 TAS molecular_function
GO:0047045 testosterone 17-beta-dehy
drogenase (NADP+) activit
y
 IDA molecular_function

KEGG pathways

hsa01100  Metabolic pathways
hsa00140  Steroid hormone biosynthesis

Diseases

Associated diseases References
46 XX disorders of sex development (DSD) PMID: 25740850
Autism PMID: 19598235
Cancer PMID: 12210481
Endometriosis PMID: 23139742
Hypergonadotropic hypogonadism PMID: 8991848
Hypospadias PMID: 16174723
Impaired testosterone synthesis PMID: 9709959
Male pseudohermaphroditism (MPH) PMID: 2998649
Endometriosis INFBASE23139742
Primary amenorrhea PMID: 23796702

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
23139742 Endometrio
sis
 FSHR (rs6165 (genotype GG+GA, 307(Ala/Ala)+307(Ala/Thr)) of FSHR, rs 6166 (genotype GG+GA, 680(Ser/Asn)+680(Ser/Ser))), HSD17B3 (rs2066479 (genotype AA+AG, 289(Ser/Ser)+289(Ser/Gly))), CYP19 (rs700519 (genotype TT+TC, 264(Cys/Cys)+264(Cys/Arg))) Taiwane
se Chin
ese
 637 (300 patien
ts with endrome
triosis)
 FSHR
HSD17B3
CYP19
 Show abstract