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HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 [ Homo sapiens (human) ]

Gene ID: 3291, updated on 15-Apr-2019

Summary

Official Symbol
HSD11B2provided by HGNC
Official Full Name
hydroxysteroid 11-beta dehydrogenase 2provided by HGNC
Primary source
HGNC:HGNC:5209
See related
Ensembl:ENSG00000176387 MIM:614232
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AME; AME1; HSD2; HSD11K; SDR9C3
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]
Expression
Biased expression in kidney (RPKM 155.7), colon (RPKM 97.2) and 6 other tissues See more
Orthologs

Genomic context

See HSD11B2 in Genome Data Viewer
Location:
16q22.1
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (67431133..67437553)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (67465036..67471456)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene RNA, U1 small nuclear 123, pseudogene Neighboring gene tubulin polymerization promoting protein family member 3 Neighboring gene zinc finger DHHC-type containing 1 Neighboring gene ATPase H+ transporting V0 subunit d1 Neighboring gene uncharacterized LOC101927837 Neighboring gene agouti related neuropeptide

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat Both HIV-1 Tat 47-59 and FITC-labeled Tat 47-59 peptides downregulate gene expression of hydroxysteroid (11-beta) dehydrogenase 2 (HSD11B2) in U-937 macrophages PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity IEA
Inferred from Electronic Annotation
more info
 
NAD binding IEA
Inferred from Electronic Annotation
more info
 
steroid binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
female pregnancy IEA
Inferred from Electronic Annotation
more info
 
glucocorticoid biosynthetic process TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
regulation of blood volume by renal aldosterone IEA
Inferred from Electronic Annotation
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to food IEA
Inferred from Electronic Annotation
more info
 
response to glucocorticoid IEA
Inferred from Electronic Annotation
more info
 
response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
response to insulin IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
corticosteroid 11-beta-dehydrogenase isozyme 2
Names
-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 dehydrogenase
short chain dehydrogenase/reductase family 9C member 3
NP_000187.3

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016549.1 RefSeqGene

    Range
    5001..11421
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000196.4NP_000187.3  corticosteroid 11-beta-dehydrogenase isozyme 2

    See identical proteins and their annotated locations for NP_000187.3

    Status: REVIEWED

    Source sequence(s)
    AC009061, BC036780, BC064536
    Consensus CDS
    CCDS10837.1
    UniProtKB/Swiss-Prot
    P80365
    Related
    ENSP00000316786.5, ENST00000326152.6
    Conserved Domains (1) summary
    cd09805
    Location:83363
    type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    67431133..67437553
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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