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

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; AllianceGenome:HGNC:5209
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: mouse all
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Genomic context

Location:: 16q22.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (67429801..67437553)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (73225897..73232329)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (67465024..67471456)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Down-Regulation of the Mineralocorticoid Receptor (MR) and Up-Regulation of Hydroxysteroid 11-Beta Dehydrogenase Type 2 (HSD11B2) Isoenzyme in Critically Ill Patients.
Title: Down-Regulation of the Mineralocorticoid Receptor (MR) and Up-Regulation of Hydroxysteroid 11-Beta Dehydrogenase Type 2 (HSD11B2) Isoenzyme in Critically Ill Patients.
Long noncoding RNA PVT1 accelerates the growth of placental trophoblasts in preeclampsia through the microRNA-24-3p/HSD11B2 axis.
Title: Long noncoding RNA PVT1 accelerates the growth of placental trophoblasts in preeclampsia through the microRNA-24-3p/HSD11B2 axis.
Detection of Urinary Exosomal HSD11B2 mRNA Expression: A Useful Novel Tool for the Diagnostic Approach of Dysfunctional 11beta-HSD2-Related Hypertension.
Title: Detection of Urinary Exosomal HSD11B2 mRNA Expression: A Useful Novel Tool for the Diagnostic Approach of Dysfunctional 11β-HSD2-Related Hypertension.
Rhythm of Fetoplacental 11beta-Hydroxysteroid Dehydrogenase Type 2 - Fetal Protection From Morning Maternal Glucocorticoids.
Title: Rhythm of Fetoplacental 11β-Hydroxysteroid Dehydrogenase Type 2 - Fetal Protection From Morning Maternal Glucocorticoids.
Placental 11beta-HSD2 downregulated in HIV associated preeclampsia.
Title: Placental 11β-HSD2 downregulated in HIV associated preeclampsia.
Cortisol and 11 beta-hydroxysteroid dehydrogenase type 2 as potential determinants of renal citrate excretion in healthy children.
Title: Cortisol and 11 beta-hydroxysteroid dehydrogenase type 2 as potential determinants of renal citrate excretion in healthy children.
Association among placental 11beta-HSD2, PPAR-gamma, and NF-kappaB p65 in small-for-gestational-age infants: A nested case-control study.
Title: Association among placental 11β-HSD2, PPAR-γ, and NF-κB p65 in small-for-gestational-age infants: A nested case-control study.
Chinese herbal medicine promote tissue differentiation in colorectal cancer by activating HSD11B2.
Title: Chinese herbal medicine promote tissue differentiation in colorectal cancer by activating HSD11B2.
[Genetic expression differences of 11 beta-hydroxysteroid dehydrogenase in the bone microvascular endothelial cells derived from different regions of the human femoral head].
Title: [Genetic expression differences of 11 beta-hydroxysteroid dehydrogenase in the bone microvascular endothelial cells derived from different regions of the human femoral head].
Study showed that all mutated glucocorticoid receptor patients display complete or partial signs of defective 11beta-HSD2 activity, suggesting a mild phenotype of AME or nonclassical AME.
Title: Impaired 11β-Hydroxysteroid Dehydrogenase Type 2 in Glucocorticoid-Resistant Patients.

Submit: New GeneRIF Correction See all GeneRIFs (153)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Apparent mineralocorticoid excess MedGen: C0342488 OMIM: 218030 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AF071493 (e-PCR)
- UniSTS:8711

SHGC-33002 (e-PCR)
- UniSTS:47371

WI-9392 (e-PCR)
- UniSTS:67084

RH70275 (e-PCR)
- UniSTS:25239

NoName (e-PCR)
- UniSTS:481237

RH64980 (e-PCR)
- UniSTS:84987

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 11-beta-hydroxysteroid dehydrogenase (NAD+) activity	IBA Inferred from Biological aspect of Ancestor more info
enables 11-beta-hydroxysteroid dehydrogenase (NAD+) activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables NAD binding	IEA Inferred from Electronic Annotation more info
enables steroid binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cortisol metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in female pregnancy	IEA Inferred from Electronic Annotation more info
involved_in glucocorticoid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of blood volume by renal aldosterone	IEA Inferred from Electronic Annotation more info
involved_in response to food	IEA Inferred from Electronic Annotation more info
involved_in response to glucocorticoid	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to insulin	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: 11-beta-hydroxysteroid dehydrogenase type 2

Names: -HSD11 type II; 11-DH2; 11-HSD type II; 11-beta-HSD type II; 11-beta-HSD2; 11-beta-hydroxysteroid dehydrogenase type II; NAD-dependent 11-beta-hydroxysteroid dehydrogenase; corticosteroid 11-beta-dehydrogenase isozyme 2; short chain dehydrogenase/reductase family 9C member 3

NP_000187.3

EC 1.1.1.146

XP_047290004.1

EC 1.1.1.146

NCBI Reference Sequences (RefSeq)

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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.