Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 3294
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

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 2, test,
Gene location 16q23.3 (82035236: 82098533)     Exons: 6     NC_000016.10
OMIM 109685

SNPs

 rs8191136

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

CM000678.2   g.82068265G>A
NC_000016.10   g.82068265G>A
NC_000016.9   g.82101870G>A
NM_002153.2   c.361G>A
NP_002144.1   p.Ala121Thr
XR_001751898.1   n.549G>A
XR_243405.1   n.549G>A
rs8191246

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

CM000678.2   g.82098435A>G
NC_000016.10   g.82098435A>G
NC_000016.9   g.82132040A>G
NM_002153.2   c.1163A>G
NP_002144.1   p.Ter388Trp
XR_001751898.1   n.1420A>G

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:  IPR016040 IPR020904 IPR002347
Prosite:   PS00061

Pfam:  		 PF00106
STRING:   ENSP00000199936;
Other Databases GeneCards:  HSD17B2;  Malacards:  HSD17B2

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001701 in utero embryonic develo
pment
 IEA biological_process
GO:0001890 placenta development
 IEA biological_process
GO:0004303 estradiol 17-beta-dehydro
genase activity
 IDA molecular_function
GO:0004303 estradiol 17-beta-dehydro
genase activity
 IDA molecular_function
GO:0005789 endoplasmic reticulum mem
brane
 TAS cellular_component
GO:0006694 steroid biosynthetic proc
ess
 IEA biological_process
GO:0016021 integral component of mem
brane
 IEA cellular_component
GO:0032526 response to retinoic acid
 IDA biological_process
GO:0047006 17-alpha,20-alpha-dihydro
xypregn-4-en-3-one dehydr
ogenase activity
 TAS molecular_function
GO:0047035 testosterone dehydrogenas
e (NAD+) activity
 IDA molecular_function
GO:0055114 oxidation-reduction proce
ss
 IEA biological_process
GO:0001701 in utero embryonic develo
pment
 IEA biological_process
GO:0001890 placenta development
 IEA biological_process
GO:0004303 estradiol 17-beta-dehydro
genase activity
 IEA molecular_function
GO:0004303 estradiol 17-beta-dehydro
genase activity
 IDA molecular_function
GO:0004303 estradiol 17-beta-dehydro
genase activity
 IDA molecular_function
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:0016020 membrane
 IEA cellular_component
GO:0016020 membrane
 IEA cellular_component
GO:0016021 integral component of mem
brane
 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-dihydro
xypregn-4-en-3-one dehydr
ogenase activity
 TAS molecular_function
GO:0047035 testosterone dehydrogenas
e (NAD+) activity
 IEA molecular_function
GO:0047035 testosterone dehydrogenas
e (NAD+) activity
 IDA molecular_function
GO:0055114 oxidation-reduction proce
ss
 IEA biological_process
GO:0004303 estradiol 17-beta-dehydro
genase activity
 IDA molecular_function
GO:0004303 estradiol 17-beta-dehydro
genase activity
 IDA molecular_function
GO:0005789 endoplasmic reticulum mem
brane
 TAS cellular_component
GO:0032526 response to retinoic acid
 IDA biological_process
GO:0047006 17-alpha,20-alpha-dihydro
xypregn-4-en-3-one dehydr
ogenase activity
 TAS molecular_function
GO:0047035 testosterone dehydrogenas
e (NAD+) activity
 IDA molecular_function

KEGG pathways

hsa01100  Metabolic pathways
hsa00140  Steroid hormone biosynthesis
hsa04913  Ovarian steroidogenesis

Diseases

Associated diseases References
Autism PMID: 19598235
Cancer PMID: 19692168
Chronic obstructive pulmonary disease (COPD) PMID: 19625176
Endometriosis PMID: 16595205
Male pseudohermaphroditism (MPH) PMID: 8075637
Oligozoospermia PMID: 18980759
Ovarian endometriosis PMID: 16815388
Ovarian endometriosis PMID: 21232532
Pelvic endometriosis PMID: 17505937
Polycystic ovary syndrome (PCOS) PMID: 17953976
Ovarian endometriosis INFBASE21232532
Endometriosis INFBASE20108182
Ovarian endometriosis INFBASE16815388
Deep endometriosis INFBASE16595205
Pseudohermaphroditism PMID: 8626842
Spermatogenetic defects PMID: 18980759

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
16595205 Endometrio
sis
54 (30 patients
with deep endo
metriosis, 24 f
ertile women wi
th macroscopica
lly normal pelv
ic cavities who
underwent lapa
roscopic tubal
ligation or rev
ersal of tubal
sterilization)
 17betaHSD2
 Show abstract
16815388 Endometrio
sis (ovari
an)

PDGFRA
PKCbeta1
JAK1
HSP90A
COUP-TF2
MOR
17betaHSD2
Sprouty2 and PGE(2)EP3
 Show abstract
20108182 Endometrio
sis


Show abstract
24012197 Endometrio
sis
120 (41 disease
- free patients
, 79 patients w
ith endometrios
is)
Show abstract
21232532 Endometrio
sis (ovari
an)

PR-AB
HSD17B2
SRD5A2
AKR1C1
AKR1C2
AKR1C3
AKR1D1
 Show abstract