Gene/Proteome Database (LMPD)

LMPD ID
LMP000140
Gene ID
Species
Homo sapiens (Human)
Gene Name
hydroxysteroid (11-beta) dehydrogenase 2
Gene Symbol
Synonyms
AME; AME1; HSD11K; HSD2; SDR9C3
Alternate Names
corticosteroid 11-beta-dehydrogenase isozyme 2; 11-DH2; 11-beta-HSD2; -HSD11 type II; 11-beta-hydroxysteroid dehydrogenase type 2; 11-beta-hydroxysteroid dehydrogenase type II; NAD-dependent 11-beta-hydroxysteroid dehydrogenase; short chain dehydrogenase/reductase family 9C member 3
Chromosome
16
Map Location
16q22
EC Number
1.1.1.-
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]
Orthologs

Proteins

corticosteroid 11-beta-dehydrogenase isozyme 2
Refseq ID NP_000187
Protein GI 119392083
UniProt ID P80365
mRNA ID NM_000196
Length 405
RefSeq Status REVIEWED
MERWPWPSGGAWLLVAARALLQLLRSDLRLGRPLLAALALLAALDWLCQRLLPPPAALAVLAAAGWIALSRLARPQRLPVATRAVLITGCDSGFGKETAKKLDSMGFTVLATVLELNSPGAIELRTCCSPRLRLLQMDLTKPGDISRVLEFTKAHTTSTGLWGLVNNAGHNEVVADAELSPVATFRSCMEVNFFGALELTKGLLPLLRSSRGRIVTVGSPAGDMPYPCLGAYGTSKAAVALLMDTFSCELLPWGVKVSIIQPGCFKTESVRNVGQWEKRKQLLLANLPQELLQAYGKDYIEHLHGQFLHSLRLAMSDLTPVVDAITDALLAARPRRRYYPGQGLGLMYFIHYYLPEGLRRRFLQAFFISHCLPRALQPGQPGTTPPQDAAQDPNLSPGPSPAVAR

Gene Information

Entrez Gene ID
Gene Name
hydroxysteroid (11-beta) dehydrogenase 2
Gene Symbol
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005783 IEA:UniProtKB-KW C endoplasmic reticulum
GO:0003845 IEA:Ensembl F 11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity
GO:0051287 IEA:Ensembl F NAD binding
GO:0005496 IEA:Ensembl F steroid binding
GO:0007565 IEA:Ensembl P female pregnancy
GO:0006704 TAS:ProtInc P glucocorticoid biosynthetic process
GO:0002017 IEA:Ensembl P regulation of blood volume by renal aldosterone
GO:0042493 IEA:Ensembl P response to drug
GO:0032094 IEA:Ensembl P response to food
GO:0051384 IEA:Ensembl P response to glucocorticoid
GO:0001666 IEA:Ensembl P response to hypoxia
GO:0032868 IEA:Ensembl P response to insulin

KEGG Pathway Links

KEGG Pathway ID Description
hsa04960 Aldosterone-regulated sodium reabsorption
hsa00140 Steroid hormone biosynthesis

Domain Information

InterPro Annotations

Accession Description
IPR002347 Glucose/ribitol dehydrogenase
IPR016040 NAD(P)-binding domain
IPR002198 Short-chain dehydrogenase/reductase SDR
IPR020904 Short-chain dehydrogenase/reductase, conserved site

UniProt Annotations

Entry Information

Gene Name
hydroxysteroid (11-beta) dehydrogenase 2
Protein Entry
DHI2_HUMAN
UniProt ID
Species
Human

Comments

Comment Type Description
Biophysicochemical Properties Kinetic parameters: KM=26.1 nM for cortisol {ECO
Catalytic Activity An 11-beta-hydroxysteroid + NAD(+) = an 11- oxosteroid + NADH.
Disease Apparent mineralocorticoid excess (AME) [MIM
Enzyme Regulation Inhibited by glycyrrhetinic acid (derived from liquorice), carbenoloxone and 11-alpha-OH-progesterone.
Function Catalyzes the conversion of cortisol to the inactive metabolite cortisone. Modulates intracellular glucocorticoid levels, thus protecting the nonselective mineralocorticoid receptor from occupation by glucocorticoids.
Miscellaneous Consumption of large amounts of liquorice can lead to apparent mineralocorticoid excess and hypertension.
Similarity Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Subcellular Location Microsome . Endoplasmic reticulum .
Subunit Interacts with ligand-free cytoplasmic NR3C2.
Tissue Specificity Found in placenta, kidney, pancreas, prostate, ovary, small intestine and colon.

Identical and Related Proteins

Unique RefSeq proteins for LMP000140 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
119392083 RefSeq NP_000187 405 corticosteroid 11-beta-dehydrogenase isozyme 2

Identical Sequences to LMP000140 proteins

Reference Database Accession Length Protein Name
GI:119392083 GenBank AAC50356.1 405 11-beta-hydroxysteroid dehydrogenase type 2 [Homo sapiens]
GI:119392083 GenBank EAW83134.1 405 hydroxysteroid (11-beta) dehydrogenase 2 [Homo sapiens]
GI:119392083 GenBank ABS29267.1 405 hydroxysteroid (11-beta) dehydrogenase 2 [Homo sapiens]
GI:119392083 GenBank ACS13714.1 405 corticosteroid 11-beta-dehydrogenase isozyme 2 [Homo sapiens]
GI:119392083 PRF - 405 11beta-hydroxysteroid dehydrogenase:ISOTYPE=2 [Homo sapiens]
GI:119392083 SwissProt P80365.2 405 RecName: Full=Corticosteroid 11-beta-dehydrogenase isozyme 2; AltName: Full=11-beta-hydroxysteroid dehydrogenase type 2; Short=11-DH2; Short=11-beta-HSD2; AltName: Full=11-beta-hydroxysteroid dehydrogenase type II; Short=-HSD11 type II; AltName: Full=NAD-dependent 11-beta-hydroxysteroid dehydrogenase; Short=11-beta-HSD [Homo sapiens]

Related Sequences to LMP000140 proteins

Reference Database Accession Length Protein Name
GI:119392083 GenBank AAA91969.1 405 11 beta-hydroxysteroid dehydrogenase type II [Homo sapiens]
GI:119392083 GenBank AAB48544.1 405 11 beta-hydroxysteroid dehydrogenase 2 [Homo sapiens]
GI:119392083 GenBank AAE30603.1 405 Sequence 2 from patent US 5965372
GI:119392083 GenBank AAH64536.1 405 Hydroxysteroid (11-beta) dehydrogenase 2 [Homo sapiens]
GI:119392083 RefSeq XP_523393.2 405 PREDICTED: corticosteroid 11-beta-dehydrogenase isozyme 2 [Pan troglodytes]
GI:119392083 RefSeq XP_004057864.1 405 PREDICTED: corticosteroid 11-beta-dehydrogenase isozyme 2 [Gorilla gorilla gorilla]