• Gene id: 3291

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 (67431120: 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-oxored
• OMIM: 602438

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: 44127
  • 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: IPR036291  IPR020904  IPR002347  
  • Prosite: PS00061
  • STRING: ENSP00000316786
• Other Databases: GeneCards:  HSD11B2  Malacards:  HSD11B2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0006704	glucocorticoid biosynthetic process	TAS	biological process
GO:0006704	glucocorticoid biosynthetic process	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0001666	response to hypoxia	IEA	biological process
GO:0002017	regulation of blood volume by renal aldosterone	IEA	biological process
GO:0003845	11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity	IEA	molecular function
GO:0007565	female pregnancy	IEA	biological process
GO:0008211	glucocorticoid metabolic process	IEA	biological process
GO:0032094	response to food	IEA	biological process
GO:0032868	response to insulin	IEA	biological process
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0048545	response to steroid hormone	IEA	biological process
GO:0051384	response to glucocorticoid	IEA	biological process
GO:0007565	female pregnancy	IEA	biological process
GO:0005496	steroid binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0042493	response to drug	IEA	biological process
GO:0051287	NAD binding	IEA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00140	Steroid hormone biosynthesis
hsa04960	Aldosterone-regulated sodium reabsorption

Diseases

Associated diseases	References
High blood pressure	KEGG:H01633
Glucocorticoid-induced osteonecrosis	KEGG:H01709
Apparent mineralocorticoid excess syndrome	KEGG:H00259
High blood pressure	KEGG:H01633
Glucocorticoid-induced osteonecrosis	KEGG:H01709
Apparent mineralocorticoid excess syndrome	KEGG:H00259
Hypertension	PMID:9683587
inherited metabolic disorder	PMID:9683587
type 2 diabetes mellitus	PMID:17519316
type 1 diabetes mellitus	PMID:16616286
type 1 diabetes mellitus	PMID:11916625
obesity	PMID:15793240
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq