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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, Member 3 2
  • Corticosteroid 11-Beta-Dehydrogenase Isozyme 2 3
  • Hydroxysteroid (11-Beta) Dehydrogenase 2 2
  • -HSD11 Type II 3
  • 11-Beta-HSD 4
  • EC 1.1.1.- 4
  • EC 1.1.1 61
  • 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 Breast Myoepithelial Neoplasm. Among its related pathways are Aldosterone-regulated sodium reabsorption and Metabolism of steroid hormones. GO annotations related to this gene include oxidoreductase activity and steroid binding. An important paralog of this gene is HSD17B2.

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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G067503 1.5 Ensembl ENCODE dbSUPER 25.7 +73.9 73908 2.7 PKNOX1 ATF1 ARNT AGO1 ARID4B SIN3A ZNF121 ZNF766 ELK1 FOS HSD11B2 ATP6V0D1 AGRP CARMIL2 PARD6A ACD ENSG00000237718 ZDHHC1 LRRC36 DPEP2
GH16G067545 1.8 FANTOM5 Ensembl ENCODE dbSUPER 18.7 +117.4 117437 5.3 HDGF ARNT WRNIP1 ARID4B ZNF2 YY1 ZNF121 ZNF143 SP5 REST HSD11B2 CARMIL2 ATP6V0D1 RIPOR1 ACD PARD6A ENSG00000237718 C16orf86 ENKD1 DPEP2
GH16G067514 1.5 Ensembl ENCODE dbSUPER 15.3 +86.3 86298 5.5 HDGF PKNOX1 ATF1 ARID4B ZNF48 ZNF121 ZNF143 FOS ZNF263 REST ATP6V0D1 HSD11B2 LRRC36 CES2 RIPOR1 GC16M067502
GH16G067479 1.7 FANTOM5 ENCODE dbSUPER 10.5 +51.4 51401 5.0 HDGF PKNOX1 MLX CREB3L1 ARNT ZFP64 SIN3A ARID4B FEZF1 DMAP1 ATP6V0D1 ACD ZDHHC1 ENKD1 SLC7A6OS RIPOR1 CARMIL2 C16orf86 ENSG00000259797 HSD11B2
GH16G067389 1.6 Ensembl ENCODE dbSUPER 11.1 -35.7 -35683 11.5 PKNOX1 FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZNF143 KLF13 ZNF263 SP3 LRRC36 ATP6V0D1 FHOD1 ZDHHC1 HSD11B2 PLEKHG4 ENSG00000260465 PRMT7 TPPP3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000087121 548 801 ZFP64 ARID4B SIN3A DMAP1 ZNF48 REST KAT8 SSRP1 MXD3 HNF4A

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

Selected DME Specific Peptides for HSD11B2 Gene

P80365:
  • GLVNNAG
  • WPWPSGGAWLLV
  • RLPVATRAVLITGCD
  • TGCDSGFG
  • MGFTVLATVL

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)
  • Abcam antibodies for HSD11B2
  • Santa Cruz Biotechnology (SCBT) Antibodies for HSD11B2

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

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 TAS --
GO:0005496 steroid binding IEA --
GO:0016491 oxidoreductase activity IEA --
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

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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HSD11B2 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 2
mitochondrion 2
peroxisome 2
nucleus 2
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for HSD11B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
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:0001666 response to hypoxia IEA --
GO:0002017 regulation of blood volume by renal aldosterone IEA --
GO:0006704 glucocorticoid biosynthetic process TAS --
GO:0007565 female pregnancy IEA --
GO:0008211 glucocorticoid metabolic process IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hydrocortisone Approved, Vet_approved Pharma Agonist Adrenal glucocorticoid; immunosuppressant 667
Formebolone Experimental, Illicit Pharma Target, inhibitor 0
NADH Nutra Target 0
Corticosterone Pharma Endogenous glucocorticoid 11
Cortisone Pharma 69

(29) 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for HSD11B2 Gene



NURSA nuclear receptor signaling pathways regulating expression of HSD11B2 Gene:

HSD11B2

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).

Evidence on tissue expression from TISSUES for HSD11B2 Gene

  • Kidney(4.8)
  • Intestine(2.7)
  • Adrenal gland(2.5)
  • Blood(2.1)
  • Nervous system(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HSD11B2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • nervous
  • skeletal muscle
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • head
Thorax:
  • heart
Abdomen:
  • adrenal gland
  • kidney
  • pancreas
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
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
chimpanzee
(Pan troglodytes)
Mammalia HSD11B2 34 35
  • 99.67 (n)
dog
(Canis familiaris)
Mammalia HSD11B2 34 35
  • 86.49 (n)
cow
(Bos Taurus)
Mammalia HSD11B2 34 35
  • 85.45 (n)
rat
(Rattus norvegicus)
Mammalia Hsd11b2 34
  • 85.18 (n)
mouse
(Mus musculus)
Mammalia Hsd11b2 34 16 35
  • 84.16 (n)
oppossum
(Monodelphis domestica)
Mammalia HSD11B2 35
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HSD11B2 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100858361 34
  • 65.36 (n)
-- 35
  • 59 (a)
OneToMany
-- 35
  • 59 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia HSD11B2 35
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hsd11b2 34
  • 53.94 (n)
zebrafish
(Danio rerio)
Actinopterygii hsd11b2 34 35
  • 54.04 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6048 34
fruit fly
(Drosophila melanogaster)
Insecta e 35
  • 6 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea dhs-2 35
  • 25 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LYS2 35
  • 5 (a)
OneToMany
Species where no ortholog for HSD11B2 was found in the sources mined by GeneCards:
  • 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

(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
rs121917780 Pathogenic, Apparent mineralocorticoid excess (AME) [MIM:218030] 67,436,100(+) TGCTG(C/T)GCAGC reference, missense
rs121917781 Pathogenic, Apparent mineralocorticoid excess (AME) [MIM:218030] 67,436,794(+) GCCGC(C/T)GCTAT reference, missense
rs121917833 Pathogenic, Apparent mineralocorticoid excess (AME) [MIM:218030] 67,436,251(+) CAGGG(A/G)ACATG reference, missense
rs28934591 Pathogenic, Apparent mineralocorticoid excess (AME) [MIM:218030] 67,436,115(+) GGGGC(C/T)GCATC reference, missense
rs28934592 Pathogenic, Apparent mineralocorticoid excess (AME) [MIM:218030] 67,436,101(+) GCTGC(A/G)CAGCT reference, missense

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

Variant ID Type Subtype PubMed ID
nsv1126431 CNV deletion 24896259
nsv471092 CNV gain 18288195
nsv522852 CNV gain 19592680
nsv524363 CNV loss 19592680
nsv833266 CNV loss 17160897
nsv952045 CNV deletion 24416366

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HSD11B2

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

Disorders for HSD11B2 Gene

MalaCards: The human disease database

(20) 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
breast myoepithelial neoplasm
  • breast myoepithelial carcinoma
breast adenomyoepithelioma
  • adenomyoepithelioma of the breast
adrenal cortical carcinoma
  • adrenocortical carcinoma, hereditary
cushing's syndrome
  • adrenal cortical adenoma
- 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:10489390, ECO:0000269 PubMed:10523339, ECO:0000269 PubMed:11238516, ECO:0000269 PubMed:12788846, ECO:0000269 PubMed:17314322, ECO:0000269 PubMed:7593417, ECO:0000269 PubMed:7608290, ECO:0000269 PubMed:7670488, ECO:0000269 PubMed:9398712, ECO:0000269 PubMed:9661590, ECO:0000269 PubMed:9683587, ECO:0000269 PubMed:9851783}. 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 22 64
  2. Identification of polymorphisms in the human 11beta-hydroxysteroid dehydrogenase type 2 gene promoter: functional characterization and relevance for salt sensitivity. (PMID: 17551100) Alikhani-Koupaei R. … Frey F.J. (FASEB J. 2007) 3 22 46 64
  3. Analysis of the 11beta-hydroxysteroid dehydrogenase type 2 gene (HSD11B2) in human essential hypertension. (PMID: 16109323) Mariniello B. … Giacchetti G. (Am. J. Hypertens. 2005) 3 22 46 64
  4. Role of HSD11B2 polymorphisms in essential hypertension and the diuretic response to thiazides. (PMID: 15673310) Williams T.A. … Glorioso N. (Kidney Int. 2005) 3 22 46 64
  5. Genetic analysis of 22 candidate genes for hypertension in the Japanese population. (PMID: 15167446) Iwai N. … Shioji K. (J. Hypertens. 2004) 3 22 46 64

Products for HSD11B2 Gene

Sources for HSD11B2 Gene

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