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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 accession	Term name	Evidence code	Go 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