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Aliases for HSD11B2 Gene

Aliases for HSD11B2 Gene

  • Hydroxysteroid (11-Beta) Dehydrogenase 2 2 3 5
  • Short Chain Dehydrogenase/Reductase Family 9C Member 3 3 4
  • NAD-Dependent 11-Beta-Hydroxysteroid Dehydrogenase 3 4
  • 11-Beta-Hydroxysteroid Dehydrogenase Type II 3 4
  • 11-Beta-Hydroxysteroid Dehydrogenase Type 2 3 4
  • 11-Beta-HSD Type II 3 4
  • 11-HSD Type II 3 4
  • 11-Beta-HSD2 3 4
  • 11-DH2 3 4
  • HSD11K 3 4
  • SDR9C3 3 4
  • Short Chain Dehydrogenase/Reductase Family 9C 2
  • -HSD11 Type II 3
  • 11-Beta-HSD 4
  • EC 1.1.1.- 4
  • Member 3 2
  • EC 1.1.1 63
  • AME1 3
  • HSD2 3
  • AME 3

External Ids for HSD11B2 Gene

Previous GeneCards Identifiers for HSD11B2 Gene

  • GC16P058159
  • GC16P067842
  • GC16P067200
  • GC16P067242
  • GC16P067243
  • GC16P066022
  • GC16P053338

Summaries for HSD11B2 Gene

Entrez Gene Summary for HSD11B2 Gene

  • 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]

GeneCards Summary for HSD11B2 Gene

HSD11B2 (Hydroxysteroid (11-Beta) Dehydrogenase 2) is a Protein Coding gene. Diseases associated with HSD11B2 include Apparent Mineralocorticoid Excess and Hypokalemia. Among its related pathways are Metabolism of steroid hormones and Metabolism. GO annotations related to this gene include oxidoreductase activity and steroid binding. An important paralog of this gene is DHRS9.

UniProtKB/Swiss-Prot for HSD11B2 Gene

  • Catalyzes the conversion of cortisol to the inactive metabolite cortisone. Modulates intracellular glucocorticoid levels, thus protecting the nonselective mineralocorticoid receptor from occupation by glucocorticoids.

Gene Wiki entry for HSD11B2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HSD11B2 Gene

Genomics for HSD11B2 Gene

Regulatory Elements for HSD11B2 Gene

Enhancers for HSD11B2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around HSD11B2 on UCSC Golden Path with GeneCards custom track

Promoters for HSD11B2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HSD11B2 on UCSC Golden Path with GeneCards custom track

Genomic Location for HSD11B2 Gene

Chromosome:
16
Start:
67,430,652 bp from pter
End:
67,437,553 bp from pter
Size:
6,902 bases
Orientation:
Plus strand

Genomic View for HSD11B2 Gene

Genes around HSD11B2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSD11B2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSD11B2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSD11B2 Gene

Proteins for HSD11B2 Gene

  • Protein details for HSD11B2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P80365-DHI2_HUMAN
    Recommended name:
    Corticosteroid 11-beta-dehydrogenase isozyme 2
    Protein Accession:
    P80365
    Secondary Accessions:
    • A7LB28
    • C5HTY7
    • Q13194
    • Q6P2G9
    • Q8N439
    • Q96QN8
    • Q9UC50
    • Q9UC51
    • Q9UCW5
    • Q9UCW6
    • Q9UCW7
    • Q9UCW8

    Protein attributes for HSD11B2 Gene

    Size:
    405 amino acids
    Molecular mass:
    44127 Da
    Quaternary structure:
    • Interacts with ligand-free cytoplasmic NR3C2.
    Miscellaneous:
    • Consumption of large amounts of liquorice can lead to apparent mineralocorticoid excess and hypertension.

neXtProt entry for HSD11B2 Gene

Proteomics data for HSD11B2 Gene at MOPED

Selected DME Specific Peptides for HSD11B2 Gene

Post-translational modifications for HSD11B2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HSD11B2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for HSD11B2 (11 beta-HSD2)

Domains & Families for HSD11B2 Gene

Gene Families for HSD11B2 Gene

Protein Domains for HSD11B2 Gene

Suggested Antigen Peptide Sequences for HSD11B2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P80365

UniProtKB/Swiss-Prot:

DHI2_HUMAN :
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Family:
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
genes like me logo Genes that share domains with HSD11B2: view

Function for HSD11B2 Gene

Molecular function for HSD11B2 Gene

GENATLAS Biochemistry:
hydroxysteroid dehydrogenase 11-beta 2,NAD dependent,kidney,interconversion of cortisol and cortisone,involved in the protection of mineralocorticoid receptor,expressed in fetal adrenal gland and in adult adrenal cortical carcinoma and adenoma
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=26.1 nM for cortisol {ECO:0000269 PubMed:12788846, ECO:0000269 PubMed:17314322}; KM=785 nM for cortisol {ECO:0000269 PubMed:12788846, ECO:0000269 PubMed:17314322}; KM=77 nM for cortisterone {ECO:0000269 PubMed:12788846, ECO:0000269 PubMed:17314322}; Vmax=64.1 nmol/h/mg enzyme toward cortisterone {ECO:0000269 PubMed:12788846, ECO:0000269 PubMed:17314322}; Vmax=66 nmol/h/mg enzyme toward cortisol {ECO:0000269 PubMed:12788846, ECO:0000269 PubMed:17314322};
UniProtKB/Swiss-Prot CatalyticActivity:
An 11-beta-hydroxysteroid + NAD(+) = an 11-oxosteroid + NADH.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by glycyrrhetinic acid (derived from liquorice), carbenoloxone and 11-alpha-OH-progesterone.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for HSD11B2 Gene

genes like me logo Genes that share phenotypes with HSD11B2: view

Human Phenotype Ontology for HSD11B2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HSD11B2 Gene

MGI Knock Outs for HSD11B2:

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for HSD11B2 Gene

Localization for HSD11B2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSD11B2 Gene

Microsome. Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HSD11B2 Gene COMPARTMENTS Subcellular localization image for HSD11B2 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 2
nucleus 2
cytosol 1
golgi apparatus 1
lysosome 1
mitochondrion 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for HSD11B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with HSD11B2: view

Pathways & Interactions for HSD11B2 Gene

genes like me logo Genes that share pathways with HSD11B2: view

Gene Ontology (GO) - Biological Process for HSD11B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002017 regulation of blood volume by renal aldosterone IEA --
GO:0006704 glucocorticoid biosynthetic process TAS --
GO:0007565 female pregnancy IEA --
GO:0008152 metabolic process IEA --
GO:0008202 steroid metabolic process TAS --
genes like me logo Genes that share ontologies with HSD11B2: view

No data available for SIGNOR curated interactions for HSD11B2 Gene

Drugs & Compounds for HSD11B2 Gene

(37) Drugs for HSD11B2 Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hydrocortisone Approved Pharma Agonist 594
NADH Nutra Target 0
Corticosterone Pharma Endogenous glucocorticoid 10
Cortisone Pharma 57
glycyrrhetinic acid Pharma 9

(33) Additional Compounds for HSD11B2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
11-Dehydrocorticosterone
  • 11-Dehydro-Corticosterone
  • 11-Dehydrocorticosteron
  • 11-Dehydrocorticosterone
  • 11-Oxo-11-deoxycorticosterone
  • 11-Oxocorticosterone
72-23-1
sodium
  • Sodium
  • Sodium ion
7440-23-5
11b-Hydroxyandrost-4-ene-3,17-dione
  • 11beta-Hydroxyandrost-4-ene-3,17-dione
  • 4-Androsten-11beta-ol-3,17-dione
  • Androst-4-ene-3,17-dione-11beta-ol
382-44-5
3a,21-Dihydroxy-5b-pregnane-11,20-dione
  • 3alpha,21-Dihydroxy-5beta-pregnane-11,20-dione
  • 5beta-Pregnane-3alpha,21-diol-11,20-dione
566-03-0
Adrenosterone
382-45-6

(1) ApexBio Compounds for HSD11B2 Gene

Compound Action Cas Number
Carbenoxolone disodium 7421-40-1
genes like me logo Genes that share compounds with HSD11B2: view

Transcripts for HSD11B2 Gene

mRNA/cDNA for HSD11B2 Gene

Unigene Clusters for HSD11B2 Gene

Hydroxysteroid (11-beta) dehydrogenase 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HSD11B2 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6
SP1: -
SP2: - - -
SP3:

Relevant External Links for HSD11B2 Gene

GeneLoc Exon Structure for
HSD11B2
ECgene alternative splicing isoforms for
HSD11B2

Expression for HSD11B2 Gene

mRNA expression in normal human tissues for HSD11B2 Gene

mRNA differential expression in normal tissues according to GTEx for HSD11B2 Gene

This gene is overexpressed in Colon - Transverse (x17.2), Kidney - Cortex (x11.3), and Small Intestine - Terminal Ileum (x4.8).

Protein differential expression in normal tissues from HIPED for HSD11B2 Gene

This gene is overexpressed in Placenta (48.5) and Nasal epithelium (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for HSD11B2 Gene



SOURCE GeneReport for Unigene cluster for HSD11B2 Gene Hs.1376

mRNA Expression by UniProt/SwissProt for HSD11B2 Gene

P80365-DHI2_HUMAN
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:8530071).
genes like me logo Genes that share expression patterns with HSD11B2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for HSD11B2 Gene

Orthologs for HSD11B2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HSD11B2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HSD11B2 35
  • 85.45 (n)
  • 84.04 (a)
HSD11B2 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HSD11B2 35
  • 86.49 (n)
  • 88.04 (a)
HSD11B2 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hsd11b2 35
  • 84.16 (n)
  • 86.75 (a)
Hsd11b2 16
Hsd11b2 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HSD11B2 35
  • 99.67 (n)
  • 99.75 (a)
HSD11B2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hsd11b2 35
  • 85.18 (n)
  • 87.44 (a)
oppossum
(Monodelphis domestica)
Mammalia HSD11B2 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HSD11B2 36
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100858361 35
  • 65.36 (n)
  • 58.64 (a)
-- 36
  • 59 (a)
OneToMany
-- 36
  • 59 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia HSD11B2 36
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hsd11b2 35
  • 53.94 (n)
  • 47.31 (a)
zebrafish
(Danio rerio)
Actinopterygii hsd11b2 35
  • 54.04 (n)
  • 50 (a)
hsd11b2 36
  • 43 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6048 35
fruit fly
(Drosophila melanogaster)
Insecta e 36
  • 6 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea dhs-2 36
  • 25 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LYS2 36
  • 5 (a)
OneToMany
Species with no ortholog for HSD11B2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HSD11B2 Gene

ENSEMBL:
Gene Tree for HSD11B2 (if available)
TreeFam:
Gene Tree for HSD11B2 (if available)

Paralogs for HSD11B2 Gene

Paralogs for HSD11B2 Gene

(5) SIMAP similar genes for HSD11B2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with HSD11B2: view

Variants for HSD11B2 Gene

Sequence variations from dbSNP and Humsavar for HSD11B2 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
VAR_006958 Apparent mineralocorticoid excess (AME)
VAR_006959 Apparent mineralocorticoid excess (AME)
VAR_015635 Apparent mineralocorticoid excess (AME)
VAR_015636 Apparent mineralocorticoid excess (AME)
VAR_015637 Apparent mineralocorticoid excess (AME)

Structural Variations from Database of Genomic Variants (DGV) for HSD11B2 Gene

Variant ID Type Subtype PubMed ID
nsv524363 CNV Loss 19592680
nsv522852 CNV Gain 19592680
nsv471092 CNV Gain 18288195
nsv906806 CNV Loss 21882294
nsv833266 CNV Loss 17160897

Variation tolerance for HSD11B2 Gene

Residual Variation Intolerance Score: 19.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.92; 19.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HSD11B2 Gene

Human Gene Mutation Database (HGMD)
HSD11B2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSD11B2 Gene

Disorders for HSD11B2 Gene

MalaCards: The human disease database

(21) MalaCards diseases for HSD11B2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
apparent mineralocorticoid excess
  • apparent mineralocorticoid excess syndrome
hypokalemia
  • hypopotassemia
cushing's syndrome
  • cushing syndrome
adrenal cortical carcinoma
  • adrenocortical carcinoma
breast myoepithelial neoplasm
  • breast myoepithelial carcinoma
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DHI2_HUMAN
  • Apparent mineralocorticoid excess (AME) [MIM:218030]: An autosomal recessive form of low-renin hypertension. It is usually diagnosed within the first years of life and is characterized by polyuria and polydipsia, failure to thrive, hypernatremia, severe hypertension with low renin and aldosterone levels, profound hypokalemia with metabolic alkalosis, and most often nephrocalcinosis. {ECO:0000269 PubMed:12788846, ECO:0000269 PubMed:17314322, ECO:0000269 PubMed:7593417, ECO:0000269 PubMed:7608290, ECO:0000269 PubMed:9661590}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for HSD11B2 Gene

hypertension,hyporeninemia,hypoaldosteronemia,hypokalemic metabolic alkalosis and apparent mineralocorticoid excess,including a severe form associated with failure to thrive,poor growth,nephrocalcinosis and sudden fatality (type I) and a mild form characterized by low-renin hypertension (type II)

Relevant External Links for HSD11B2

Genetic Association Database (GAD)
HSD11B2
Human Genome Epidemiology (HuGE) Navigator
HSD11B2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HSD11B2
genes like me logo Genes that share disorders with HSD11B2: view

Publications for HSD11B2 Gene

  1. Cloning and production of antisera to human placental 11 beta- hydroxysteroid dehydrogenase type 2. (PMID: 8611140) Brown R.W. … Seckl J.R. (Biochem. J. 1996) 2 3 4 23 67
  2. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B. … Oppermann U. (Chem. Biol. Interact. 2009) 2 3
  3. The (+)- and (-)-gossypols potently inhibit human and rat 11beta-hydroxysteroid dehydrogenase type 2. (PMID: 19150652) Chen B.B. … Ge R.S. (J. Steroid Biochem. Mol. Biol. 2009) 3 23
  4. Placental 11beta-HSD2 gene expression at birth is inversely correlated with growth velocity in the first year of life after intrauterine growth restriction. (PMID: 19218882) Tzschoppe A. … DAPtsch J. (Pediatr. Res. 2009) 3 23
  5. [Influence of dexamethasone on expression of 11beta-HSD2 in primary cultured cytotrophoblasts from human preterm placenta]. (PMID: 19292059) Xu A.Q. … Liao H. (Sichuan Da Xue Xue Bao Yi Xue Ban 2009) 3 23

Products for HSD11B2 Gene

Sources for HSD11B2 Gene

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