Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 3291
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol HSD11B2   Gene   UCSC   Ensembl
Aliases AME, AME1, HSD11K, HSD2, SDR9C3
Gene name hydroxysteroid 11-beta dehydrogenase 2
Alternate names corticosteroid 11-beta-dehydrogenase isozyme 2, -HSD11 type II, 11-DH2, 11-HSD type II, 11-beta-HSD type II, 11-beta-HSD2, 11-beta-hydroxysteroid dehydrogenase type 2, 11-beta-hydroxysteroid dehydrogenase type II, NAD-dependent 11-beta-hydroxysteroid dehydrogenas,
Gene location 16q22.1 (67431132: 67437552)     Exons: 5     NC_000016.10
Gene summary(Entrez) There are at least two isozymes of the corticosteroid 11-beta-dehydrogenase, a microsomal enzyme complex responsible for the interconversion of cortisol and cortisone. The type I isozyme has both 11-beta-dehydrogenase (cortisol to cortisone) and 11-oxoreductase (cortisone to cortisol) activities. The type II isozyme, encoded by this gene, has only 11-beta-dehydrogenase activity. In aldosterone-selective epithelial tissues such as the kidney, the type II isozyme catalyzes the glucocorticoid cortisol to the inactive metabolite cortisone, thus preventing illicit activation of the mineralocorticoid receptor. In tissues that do not express the mineralocorticoid receptor, such as the placenta and testis, it protects cells from the growth-inhibiting and/or pro-apoptotic effects of cortisol, particularly during embryonic development. Mutations in this gene cause the syndrome of apparent mineralocorticoid excess and hypertension. [provided by RefSeq, Feb 2010]
OMIM 614232

Protein Summary

Protein general information P80365  

Name: Corticosteroid 11 beta dehydrogenase isozyme 2 (EC 1.1.1. ) (11 beta hydroxysteroid dehydrogenase type 2) (11 DH2) (11 beta HSD2) (11 beta hydroxysteroid dehydrogenase type II) (11 HSD type II) (11 beta HSD type II) (NAD dependent 11 beta hydroxysteroid d

Length: 405  Mass: 44,127

Tissue specificity: Expressed in kidney, pancreas, prostate, ovary, small intestine and colon. At midgestation, expressed at high levels in placenta and in fetal kidney and, at much lower levels, in fetal lung and testis (PubMed

Sequence MERWPWPSGGAWLLVAARALLQLLRSDLRLGRPLLAALALLAALDWLCQRLLPPPAALAVLAAAGWIALSRLARP
QRLPVATRAVLITGCDSGFGKETAKKLDSMGFTVLATVLELNSPGAIELRTCCSPRLRLLQMDLTKPGDISRVLE
FTKAHTTSTGLWGLVNNAGHNEVVADAELSPVATFRSCMEVNFFGALELTKGLLPLLRSSRGRIVTVGSPAGDMP
YPCLGAYGTSKAAVALLMDTFSCELLPWGVKVSIIQPGCFKTESVRNVGQWEKRKQLLLANLPQELLQAYGKDYI
EHLHGQFLHSLRLAMSDLTPVVDAITDALLAARPRRRYYPGQGLGLMYFIHYYLPEGLRRRFLQAFFISHCLPRA
LQPGQPGTTPPQDAAQDPNLSPGPSPAVAR
Structural information
Interpro:  IPR016040 IPR020904 IPR002347
Prosite:   PS00061

Pfam:  
PF00106
STRING:   ENSP00000316786;
Other Databases GeneCards:  HSD11B2;  Malacards:  HSD11B2

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001666 response to hypoxia
IEA biological_process
GO:0002017 regulation of blood volum
e by renal aldosterone
IEA biological_process
GO:0003845 11-beta-hydroxysteroid de
hydrogenase [NAD(P)] acti
vity
TAS molecular_function
GO:0005496 steroid binding
IEA molecular_function
GO:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0006704 glucocorticoid biosynthet
ic process
TAS biological_process
GO:0007565 female pregnancy
IEA biological_process
GO:0032094 response to food
IEA biological_process
GO:0032868 response to insulin
IEA biological_process
GO:0042493 response to drug
IEA biological_process
GO:0051287 NAD binding
IEA molecular_function
GO:0051384 response to glucocorticoi
d
IEA biological_process
GO:0055114 oxidation-reduction proce
ss
IEA biological_process
GO:0001666 response to hypoxia
IEA biological_process
GO:0002017 regulation of blood volum
e by renal aldosterone
IEA biological_process
GO:0003845 11-beta-hydroxysteroid de
hydrogenase [NAD(P)] acti
vity
IEA molecular_function
GO:0003845 11-beta-hydroxysteroid de
hydrogenase [NAD(P)] acti
vity
TAS molecular_function
GO:0005496 steroid binding
IEA molecular_function
GO:0005737 cytoplasm
IEA cellular_component
GO:0005783 endoplasmic reticulum
IEA cellular_component
GO:0005783 endoplasmic reticulum
IEA cellular_component
GO:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0006704 glucocorticoid biosynthet
ic process
TAS biological_process
GO:0006704 glucocorticoid biosynthet
ic process
TAS biological_process
GO:0007565 female pregnancy
IEA biological_process
GO:0008211 glucocorticoid metabolic
process
IEA biological_process
GO:0016491 oxidoreductase activity
IEA molecular_function
GO:0016491 oxidoreductase activity
IEA molecular_function
GO:0032094 response to food
IEA biological_process
GO:0032868 response to insulin
IEA biological_process
GO:0042493 response to drug
IEA biological_process
GO:0043231 intracellular membrane-bo
unded organelle
IEA cellular_component
GO:0043231 intracellular membrane-bo
unded organelle
IEA cellular_component
GO:0043231 intracellular membrane-bo
unded organelle
IEA cellular_component
GO:0048545 response to steroid hormo
ne
IEA biological_process
GO:0051287 NAD binding
IEA molecular_function
GO:0051384 response to glucocorticoi
d
IEA biological_process
GO:0055114 oxidation-reduction proce
ss
IEA biological_process
GO:0003845 11-beta-hydroxysteroid de
hydrogenase [NAD(P)] acti
vity
TAS molecular_function
GO:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0006704 glucocorticoid biosynthet
ic process
TAS biological_process
GO:0006704 glucocorticoid biosynthet
ic process
TAS biological_process

KEGG pathways

hsa00140  Steroid hormone biosynthesis
hsa04960  Aldosterone-regulated sodium reabsorption

Diseases

Associated diseases References
Diabetes PMID: 11916625
Endometriosis PMID: 16249290
Hypertension PMID: 11711524
Endometriosis INFBASE16249290

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
16249290 Endometrio
sis

30 (15 patients
undergoing lap
aroscopy or hys
terectomy for e
ndometriosis, 1
5 controls)
IGFBP5
PIM2
RPL41
PSAP
FBLN1
SIPL
DLX5
HSD11B2
SET
and RHOE
Show abstract