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Aliases for HSD11B2 Gene

Aliases for HSD11B2 Gene

  • Hydroxysteroid (11-Beta) Dehydrogenase 2 2 3
  • HSD11K 3 4 6
  • 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
  • -HSD11 Type II 3 4
  • 11-Beta-HSD2 3 4
  • 11-DH2 3 4
  • SDR9C3 3 4
  • AME 3 6
  • Corticosteroid 11-Beta-Dehydrogenase Isozyme 2 3
  • Short Chain Dehydrogenase/Reductase Family 9C 2
  • 11-Beta-HSD 4
  • EC 1.1.1.- 4
  • Member 3 2
  • EC 1.1.1 63
  • HSD2 3
  • AME1 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 adrenal cortical carcinoma. Among its related pathways are Aldosterone-regulated sodium reabsorption and Prostaglandin Synthesis and Regulation. GO annotations related to this gene include NAD binding and 11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity. An important paralog of this gene is RDH5.

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

Genomic Location for HSD11B2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:

Domains for HSD11B2 Gene

Gene Families for HSD11B2 Gene

HGNC:
  • SDRC2 :Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2

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 :
  • P80365
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

Gene Ontology (GO) - Molecular Function for HSD11B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003845 11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity IEA --
GO:0005496 steroid binding IEA --
GO:0016491 oxidoreductase activity --
GO:0051287 NAD binding IEA --
genes like me logo Genes that share ontologies with HSD11B2: view
genes like me logo Genes that share phenotypes with HSD11B2: view

Animal Models for HSD11B2 Gene

MGI Knock Outs for HSD11B2:

No data available for miRNA , Transcription Factor Targeting 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

Gene Ontology (GO) - Cellular Components for HSD11B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005783 endoplasmic reticulum IEA --
GO:0043231 intracellular membrane-bounded organelle --
genes like me logo Genes that share ontologies with HSD11B2: view

Pathways for HSD11B2 Gene

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

Pathways by source for HSD11B2 Gene

Gene Ontology (GO) - Biological Process for HSD11B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0002017 regulation of blood volume by renal aldosterone IEA --
GO:0006704 glucocorticoid biosynthetic process TAS 7859916
GO:0007565 female pregnancy IEA --
GO:0008152 metabolic process --
genes like me logo Genes that share ontologies with HSD11B2: view

Compounds for HSD11B2 Gene

(14) HMDB Compounds for HSD11B2 Gene

Compound Synonyms Cas Number PubMed IDs
11b-Hydroxyandrost-4-ene-3,17-dione
  • Androst-4-ene-3,17-dione-11beta-ol
382-44-5
11-Dehydrocorticosterone
  • 11-dehydro-Corticosterone
72-23-1
3a,21-Dihydroxy-5b-pregnane-11,20-dione
  • 5beta-Pregnane-3alpha,21-diol-11,20-dione
566-03-0
Adrenosterone
382-45-6
Corticosterone
  • 11,21-Dihydroxypregn-4-ene-3,20-dione
50-22-6

(1) Drugbank Compounds for HSD11B2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
NADH
  • beta-DPNH
606-68-8 target

(62) Novoseek inferred chemical compound relationships for HSD11B2 Gene

Compound -log(P) Hits PubMed IDs
11beta-hydroxysteroid 98.7 140
cortisone 96.6 114
tetrahydrocortisone 93.3 8
allotetrahydrocortisol 91.4 5
tetrahydrocortisol 91.4 6
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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Colon - Transverse (17.2), Kidney - Cortex (11.3), and Small Intestine - Terminal Ileum (4.8).

Integrated Proteomics: protein expression 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: Found in placenta, kidney, pancreas, prostate, ovary, small intestine and colon
genes like me logo Genes that share expressions with HSD11B2: view

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
chimpanzee
(Pan troglodytes)
Mammalia HSD11B2 35
  • 99.67 (n)
  • 99.75 (a)
HSD11B2 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia HSD11B2 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HSD11B2 36
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hsd11b2 35
  • 85.18 (n)
  • 87.44 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 59 (a)
OneToMany
-- 36
  • 59 (a)
OneToMany
LOC100858361 35
  • 65.36 (n)
  • 58.64 (a)
lizard
(Anolis carolinensis)
Reptilia HSD11B2 36
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hsd11b2 35
  • 53.94 (n)
  • 47.31 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6048 35
zebrafish
(Danio rerio)
Actinopterygii hsd11b2 35
  • 54.04 (n)
  • 50 (a)
hsd11b2 36
  • 43 (a)
OneToOne
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

Selected 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 MAF
rs5479 -- 67,435,830(+) CACAC(A/C)ACCAG synonymous-codon, reference
rs5480 Benign 67,436,066(+) GGCGC(A/G)CTCGA synonymous-codon, reference
rs5481 -- 67,437,511(+) CCCAA(A/C/T)TGCCA utr-variant-3-prime
rs1139495 -- 67,435,804(+) GCCGC(A/G/T)TTCTA missense, reference
rs1802795 -- 67,437,074(+) GAAAA(C/T)CCCCA utr-variant-3-prime

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

Relevant External Links for HSD11B2 Gene

HapMap Linkage Disequilibrium report
HSD11B2
Human Gene Mutation Database (HGMD)
HSD11B2

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

Disorders for HSD11B2 Gene

(1) OMIM Diseases for HSD11B2 Gene (614232)

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.

(47) Novoseek inferred disease relationships for HSD11B2 Gene

Disease -log(P) Hits PubMed IDs
mineralocorticoid hypertension 81.2 5
low renin hypertension 70.7 1
hypokalemia 67.4 6
essential hypertension 60.1 19
intrauterine growth retardation 53.9 12

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
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
  2. Purification of 11 beta-hydroxysteroid dehydrogenase type 2 from human placenta utilizing a novel affinity labelling technique. (PMID: 8611186) Brown R.W. … Seckl J.R. (Biochem. J. 1996) 3 4 23
  3. Several homozygous mutations in the gene for 11 beta-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess. (PMID: 7593417) Wilson R.C. … New M.I. (J. Clin. Endocrinol. Metab. 1995) 3 4 23
  4. Molecular basis for hypertension in the 'type II variant' of apparent mineralocorticoid excess. (PMID: 9683587) Li A. … Stewart P.M. (Am. J. Hum. Genet. 1998) 3 4 23
  5. A genetic defect resulting in mild low-renin hypertension. (PMID: 9707624) Wilson R.C. … New M.I. (Proc. Natl. Acad. Sci. U.S.A. 1998) 3 4 23

Products for HSD11B2 Gene

Sources for HSD11B2 Gene

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