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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 56
  • 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 and Steroid hormone biosynthesis. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for HSD11B2 Gene

Promoters and enhancers for HSD11B2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I067427 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 562.7 -0.2 -198 5.3 FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZNF48 ARID2 ZNF143 ATF7 SP3 HSD11B2 ENSG00000261320 ATP6V0D1 PRMT7 LRRC36 KIAA0895L ZDHHC1
GH16I067503 Enhancer 1.3 Ensembl ENCODE dbSUPER 25.7 +73.9 73907 2.7 PKNOX1 ATF1 ARNT ZNF121 ZNF766 FOS ATF7 SP5 ZNF592 SREBF1 GC16M067502 ZDHHC1 HSD11B2 ATP6V0D1 ENSG00000260465 CTCF ENKD1 AGRP CENPT CARMIL2
GH16I067545 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 18.7 +117.4 117437 5.3 HDGF CLOCK ARNT ARID4B SIN3A ZNF2 YY1 ARID2 ZNF143 RUNX3 HSD11B2 CARMIL2 ATP6V0D1 RIPOR1 PARD6A ACD ENSG00000237718 C16orf86 ENKD1 DPEP2
GH16I067479 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.5 +51.4 51400 5 HDGF PKNOX1 SMAD1 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ATP6V0D1 LOC101927837 AGRP ZDHHC1 ENKD1 NAE1 EDC4 CENPT CTCF SLC7A6OS
GH16I067389 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.1 -35.7 -35682 11.5 PKNOX1 ARID4B SIN3A ZNF48 GLIS2 ARID2 ZNF143 KLF7 RUNX3 SP3 TPPP3 LRRC36 ATP6V0D1 FHOD1 ZDHHC1 HSD11B2 PLEKHG4 ENSG00000260465 PRMT7 RNU1-123P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HSD11B2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HSD11B2 gene promoter:

Genomic Locations for HSD11B2 Gene

Genomic Locations for HSD11B2 Gene
6,902 bases
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:
    Recommended name:
    Corticosteroid 11-beta-dehydrogenase isozyme 2
    Protein Accession:
    Secondary Accessions:
    • A7LB28
    • C5HTY7
    • Q13194
    • Q6P2G9
    • Q8N439
    • Q96QN8
    • Q9UC50
    • Q9UC51
    • Q9UCW5
    • Q9UCW6
    • Q9UCW7
    • Q9UCW8

    Protein attributes for HSD11B2 Gene

    405 amino acids
    Molecular mass:
    44127 Da
    Quaternary structure:
    • Interacts with ligand-free cytoplasmic NR3C2.
    • 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


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 & Families for HSD11B2 Gene

Gene Families for HSD11B2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

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



  • Belongs to the short-chain dehydrogenases/reductases (SDR) 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

Phenotypes From GWAS Catalog 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,IEA --
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

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

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

Subcellular locations from the

Human Protein Atlas (HPA)

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

(44) 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, Target 713
NADH Approved Nutra Target 0
Fluoxymesterone Approved, Illicit Pharma Target, inhibitor 0
Corticosterone Experimental Pharma 11
Formebolone Experimental, Illicit Pharma Target, inhibitor 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 11-Dehydro-Corticosterone
  • 11-Dehydrocorticosteron
  • 11-Dehydrocorticosterone
  • 11-Oxo-11-deoxycorticosterone
  • 11-Oxocorticosterone
  • Sodium
  • Sodium ion
  • 11beta-Hydroxyandrost-4-ene-3,17-dione
  • 4-Androsten-11beta-ol-3,17-dione
  • Androst-4-ene-3,17-dione-11beta-ol
  • 3alpha,21-Dihydroxy-5beta-pregnane-11,20-dione
  • 5beta-Pregnane-3alpha,21-diol-11,20-dione

(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

Drug Products

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

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

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

Relevant External Links for HSD11B2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

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:


SOURCE GeneReport for Unigene cluster for HSD11B2 Gene:


mRNA Expression by UniProt/SwissProt for HSD11B2 Gene:

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
  • cardiovascular
  • endocrine
  • nervous
  • skeletal muscle
  • urinary
Head and neck:
  • brain
  • ear
  • eye
  • head
  • heart
  • adrenal gland
  • kidney
  • pancreas
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with HSD11B2: view

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
(Pan troglodytes)
Mammalia HSD11B2 33 34
  • 99.67 (n)
(Canis familiaris)
Mammalia HSD11B2 33 34
  • 86.49 (n)
(Bos Taurus)
Mammalia HSD11B2 33 34
  • 85.45 (n)
(Rattus norvegicus)
Mammalia Hsd11b2 33
  • 85.18 (n)
(Mus musculus)
Mammalia Hsd11b2 33 16 34
  • 84.16 (n)
(Monodelphis domestica)
Mammalia HSD11B2 34
  • 81 (a)
(Ornithorhynchus anatinus)
Mammalia HSD11B2 34
  • 69 (a)
(Gallus gallus)
Aves HSD11B2 33
  • 65.36 (n)
-- 34
  • 59 (a)
-- 34
  • 59 (a)
(Anolis carolinensis)
Reptilia HSD11B2 34
  • 59 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia hsd11b2 33
  • 53.94 (n)
(Danio rerio)
Actinopterygii hsd11b2 33 34
  • 54.04 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6048 33
fruit fly
(Drosophila melanogaster)
Insecta e 34
  • 6 (a)
(Caenorhabditis elegans)
Secernentea dhs-2 34
  • 25 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LYS2 34
  • 5 (a)
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

Gene Tree for HSD11B2 (if available)
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 Variation AA Info Type
rs121917780 pathogenic, Apparent mineralocorticoid excess, Apparent mineralocorticoid excess (AME) [MIM:218030] 67,436,100(+) C/T coding_sequence_variant, missense_variant
rs121917781 pathogenic, Apparent mineralocorticoid excess, Apparent mineralocorticoid excess (AME) [MIM:218030] 67,436,794(+) C/T coding_sequence_variant, missense_variant
rs121917782 pathogenic, Apparent mineralocorticoid excess, mild 67,436,264(+) C/T coding_sequence_variant, missense_variant
rs121917833 pathogenic, Apparent mineralocorticoid excess, Apparent mineralocorticoid excess (AME) [MIM:218030] 67,436,251(+) G/A coding_sequence_variant, missense_variant
rs28934591 pathogenic, Apparent mineralocorticoid excess, Apparent mineralocorticoid excess (AME) [MIM:218030] 67,436,115(+) C/T coding_sequence_variant, missense_variant

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)

Additional Variant Information for HSD11B2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for HSD11B2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
apparent mineralocorticoid excess
  • ame
  • hypopotassemia
breast adenomyoepithelioma
  • adenomyoepithelioma of the breast
breast myoepithelial neoplasm
  • breast myoepithelial carcinoma
conn's syndrome
  • conn syndrome
- elite association - COSMIC cancer census association via MalaCards


  • 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)

Additional Disease Information for HSD11B2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 RW … Seckl JR (The Biochemical journal 1996) 2 3 4 22 58
  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 FJ (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2007) 3 22 44 58
  3. Role of HSD11B2 polymorphisms in essential hypertension and the diuretic response to thiazides. (PMID: 15673310) Williams TA … Glorioso N (Kidney international 2005) 3 22 44 58
  4. Analysis of the 11beta-hydroxysteroid dehydrogenase type 2 gene (HSD11B2) in human essential hypertension. (PMID: 16109323) Mariniello B … Giacchetti G (American journal of hypertension 2005) 3 22 44 58
  5. Genetic analysis of 22 candidate genes for hypertension in the Japanese population. (PMID: 15167446) Iwai N … Shioji K (Journal of hypertension 2004) 3 22 44 58

Products for HSD11B2 Gene

Sources for HSD11B2 Gene

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