Homo sapiens Gene: HSD11B2
Summary
InnateDB Gene IDBG-36794.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HSD11B2
Gene Name hydroxysteroid (11-beta) dehydrogenase 2
Synonyms AME; AME1; HSD11K; HSD2; SDR9C3;
Species Homo sapiens
Ensembl Gene ENSG00000176387
Encoded Proteins
hydroxysteroid (11-beta) dehydrogenase 2
hydroxysteroid (11-beta) dehydrogenase 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:67430652-67437553
Strand Forward strand
Band q22.1
Transcripts
ENST00000326152 ENSP00000316786
ENST00000566606 ENSP00000473429
ENST00000567684
ENST00000569303
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated
Total 6 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003845 11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity
GO:0005496 steroid binding
GO:0016491 oxidoreductase activity
GO:0051287 NAD binding
Biological Process
GO:0001666 response to hypoxia
GO:0002017 regulation of blood volume by renal aldosterone
GO:0006704 glucocorticoid biosynthetic process
GO:0007565 female pregnancy
GO:0008152 metabolic process
GO:0008211 glucocorticoid metabolic process
GO:0032094 response to food
GO:0032868 response to insulin
GO:0042493 response to drug
GO:0048545 response to steroid hormone
GO:0051384 response to glucocorticoid
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0043231 intracellular membrane-bounded organelle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Steroid hormone biosynthesis pathway
Aldosterone-regulated sodium reabsorption pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt P80365
TrEMBL
UniProt Splice Variant
Entrez Gene 3291
UniGene Hs.1376
RefSeq NM_000196
HUGO HGNC:5209
OMIM 614232
CCDS CCDS10837
HPRD 01958
IMGT
EMBL AY046280 BC036780 BC064536 CH471092 EF694683 FJ515828 U14631 U26726 U27317
GenPept AAA91969 AAB48544 AAC50356 AAH36780 AAH64536 AAK91586 ABS29267 ACS13714 EAW83134
RNA Seq Atlas 3291