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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HSD11B2 Gene

protein-coding   GIFtS: 63
GCID: GC16P067465

Hydroxysteroid (11-Beta) Dehydrogenase 2

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Hydroxysteroid (11-Beta) Dehydrogenase 21 2     AME2
-HSD11 Type II2 3     AME12
11-DH22 3     HSD22
11-beta-HSD22 3     SDR9C32
11-Beta-Hydroxysteroid Dehydrogenase Type 22 3     Corticosteroid 11-Beta-Dehydrogenase Isozyme 22
11-Beta-Hydroxysteroid Dehydrogenase Type II2 3     Short Chain Dehydrogenase/Reductase Family 9C Member 32
HSD11K2 3     11-beta-HSD3
NAD-Dependent 11-Beta-Hydroxysteroid Dehydrogenase2 3     EC 1.1.1.-3
Member 31     EC 1.1.18
Short Chain Dehydrogenase/Reductase Family 9C1     

External Ids:    HGNC: 52091   Entrez Gene: 32912   Ensembl: ENSG000001763877   OMIM: 6142325   UniProtKB: P803653   

Export aliases for HSD11B2 gene to outside databases

Previous GC identifers: GC16P058159 GC16P067842 GC16P067200 GC16P067242 GC16P067243 GC16P066022 GC16P053338


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 syndrome, and adrenal adenoma, and among its related super-pathways are Glucocorticoid biosynthesis and Glucuronidation. GO annotations related to this gene include NAD binding and 11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity. An important paralog of this gene is SDR9C7.

UniProtKB/Swiss-Prot: DHI2_HUMAN, P80365
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

Gene Wiki entry for HSD11B2 (Corticosteroid 11-beta-dehydrogenase isozyme 2) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.2  NT_010498.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HSD11B2 gene promoter:
         SRY   Sp1   Olf-1   CUTL1   HNF-4alpha2   HNF-4alpha1   C/EBPalpha   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for HSD11B2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HSD11B2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q22   Ensembl cytogenetic band:  16q22.1   HGNC cytogenetic band: 16q22

HSD11B2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HSD11B2 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P067465:  view genomic region     (about GC identifiers)

Start:
67,464,555 bp from pter      End:
67,471,456 bp from pter
Size:
6,902 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DHI2_HUMAN, P80365 (See protein sequence)
Recommended Name: Corticosteroid 11-beta-dehydrogenase isozyme 2  
Size: 405 amino acids; 44127 Da
Subunit: Interacts with ligand-free cytoplasmic NR3C2
Subcellular location: Microsome. Endoplasmic reticulum
Miscellaneous: Consumption of large amounts of liquorice can lead to apparent mineralocorticoid excess and
hypertension
Secondary accessions: A7LB28 C5HTY7 Q13194 Q6P2G9 Q8N439 Q96QN8 Q9UC50 Q9UC51 Q9UCW5 Q9UCW6
Q9UCW7 Q9UCW8

Explore the universe of human proteins at neXtProt for HSD11B2: NX_P80365

Explore proteomics data for HSD11B2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P80365

  • 4/5 DME Specific Peptides for HSD11B2 (P80365) (see all 5)
     GLVNNAG  TGCDSGFG  MGFTVLATVL  WPWPSGGAWLLV 

    HSD11B2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HSD11B2 Protein Expression
    REFSEQ proteins: NP_000187.3  
    ENSEMBL proteins: 
     ENSP00000316786   ENSP00000473429  

    Human Recombinant Protein Products for HSD11B2: 
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005783endoplasmic reticulum IEA--
    GO:0043231intracellular membrane-bounded organelle ----

    HSD11B2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SDRC2: Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2

    4 InterPro protein domains:
     IPR020904 Sc_DH/Rdtase_CS
     IPR002347 Glc/ribitol_DH
     IPR002198 DH_sc/Rdtase_SDR
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry P80365

    ProtoNet protein and cluster: P80365

    1 Blocks protein domain: IPB002198 Short-chain dehydrogenase/reductase SDR

    UniProtKB/Swiss-Prot: DHI2_HUMAN, P80365
    Similarity: Belongs to the short-chain dehydrogenases/reductases (SDR) family


    HSD11B2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DHI2_HUMAN, P80365
    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
    Catalytic activity: An 11-beta-hydroxysteroid + NAD(+) = an 11-oxosteroid + NADH
    Enzyme regulation: Inhibited by glycyrrhetinic acid (derived from liquorice), carbenoloxone and
    11-alpha-OH-progesterone (By similarity)
    Biophysicochemical properties: Kinetic parameters: KM=26.1 nM for cortisol (PubMed:12788846); KM=785 nM for
    cortisol (PubMed:17314322); KM=77 nM for cortisterone; Vmax=64.1 nmol/h/mg enzyme toward cortisterone; Vmax=66
    nmol/h/mg enzyme toward cortisol; Note=X;

         Genatlas biochemistry entry for HSD11B2:
    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

         Enzyme Numbers (IUBMB): EC 1.1.12 EC 1.1.1.-1

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:000384511-beta-hydroxysteroid dehydrogenase [NAD(P)] activity IEA--
    GO:0005496steroid binding IEA--
    GO:0016491oxidoreductase activity ----
    GO:0051287NAD binding IEA--
         
    HSD11B2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for HSD11B2:
     G0/1 arrest  Increased G1 DNA content 

         10 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Hsd11b2):
     behavior/neurological  cardiovascular system  cellular  digestive/alimentary  homeostasis/metabolism 
     mortality/aging  muscle  no phenotypic analysis  normal  renal/urinary system 

    HSD11B2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Hsd11b2tm1Yko for HSD11B2

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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for HSD11B2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Mineralocorticoid biosynthesis
    Glucocorticoid & Mineralcorticoid Metabolism0.67
    2Glucuronidation
    Steroid hormone biosynthesis0.30
    3Prostaglandin Synthesis and Regulation
    Prostaglandin Synthesis and Regulation
    4Aldosterone-regulated sodium reabsorption
    Aldosterone-regulated sodium reabsorption

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for HSD11B2
        Prostaglandin Synthesis and Regulation
    Glucocorticoid & Mineralcorticoid Metabolism


    2         Kegg Pathways  (Kegg details for HSD11B2):
        Steroid hormone biosynthesis
    Aldosterone-regulated sodium reabsorption


    HSD11B2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HSD11B2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/13 Interacting proteins for HSD11B2 (P803653 ENSP000003167864) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KAT2AQ928303, ENSP000002259164I2D: score=1 STRING: ENSP00000225916
    CTBP1Q133633, ENSP000002909214I2D: score=1 STRING: ENSP00000290921
    HDAC1Q135473, ENSP000003626494I2D: score=1 STRING: ENSP00000362649
    KAT2BQ928313, ENSP000002637544I2D: score=1 STRING: ENSP00000263754
    AKR1C4ENSP000002631264STRING: ENSP00000263126
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666response to hypoxia IEA--
    GO:0002017regulation of blood volume by renal aldosterone IEA--
    GO:0006704glucocorticoid biosynthetic process TAS7859916
    GO:0006950response to stress ----
    GO:0007565female pregnancy IEA--

    HSD11B2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    HSD11B2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for HSD11B2 (DHI2)

    10/14 HMDB Compounds for HSD11B2 (see all 14)    About this table
    CompoundSynonyms CAS #PubMed Ids
    11-Dehydrocorticosterone11-dehydro-Corticosterone (see all 15)72-23-1--
    11b-Hydroxyandrost-4-ene-3,17-dioneAndrost-4-ene-3,17-dione-11beta-ol (see all 3)382-44-5--
    3a,21-Dihydroxy-5b-pregnane-11,20-dione5beta-Pregnane-3alpha,21-diol-11,20-dione (see all 2)566-03-0--
    Adrenosterone 382-45-6--
    Corticosterone11,21-Dihydroxypregn-4-ene-3,20-dione (see all 8)50-22-6--
    Cortisol11-Hydrocortisone (see all 173)50-23-7--
    CortisoneAndreson (see all 45)53-06-5--
    Glycyrrhetinic acidUralenic acid (see all 22)471-53-4--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--

    1 DrugBank Compound for HSD11B2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--1727721 17139284 17016423 8585102

    10/62 Novoseek inferred chemical compound relationships for HSD11B2 gene (see all 62)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    11beta-hydroxysteroid 98.7 325 11916625 (3), 14981055 (3), 7656579 (2), 8793860 (2) (see all 99)
    cortisone 96.6 139 11350048 (3), 10760070 (2), 15643127 (2), 16079253 (2) (see all 98)
    tetrahydrocortisone 93.3 9 11967038 (2), 16061836 (1), 11751713 (1), 16402926 (1) (see all 7)
    allotetrahydrocortisol 91.4 6 16061836 (2), 11967038 (1), 16616286 (1), 16556718 (1)
    tetrahydrocortisol 91.4 9 11967038 (1), 18178212 (1), 11751713 (1), 16616286 (1) (see all 6)
    11-dehydrocorticosterone 89.2 4 9202239 (1), 7649078 (1), 10419017 (1), 11288760 (1)
    carbenoxolone 85.1 12 10760076 (1), 12574078 (1), 15761540 (1), 16980198 (1) (see all 9)
    glycyrrhetinic acid 84 18 15631868 (4), 12239243 (2), 12911547 (1), 11751713 (1) (see all 9)
    glycyrrhizin 72.9 11 12943516 (1), 19429429 (1), 11751713 (1), 15761540 (1) (see all 9)
    corticosterone 72 31 8967481 (2), 16872738 (2), 15223679 (1), 9202239 (1) (see all 17)

    Search CenterWatch for drugs/clinical trials and news about HSD11B2 / DHI2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for HSD11B2 gene: 
    NM_000196.3  

    Unigene Cluster for HSD11B2:

    Hydroxysteroid (11-beta) dehydrogenase 2
    Hs.1376  [show with all ESTs]
    Unigene Representative Sequence: BC036780
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000567684 ENST00000326152(uc002etd.3) ENST00000569303 ENST00000566606

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    Additional mRNA sequence: 

    BC036780.1 BC064536.1 U14631.1 U26726.1 

    5 DOTS entries:

    DT.445242  DT.100033727  DT.97843312  DT.100818675  DT.92425974 

    24/154 AceView cDNA sequences (see all 154):

    AI337719 BM826231 CD607801 CB852166 BM789490 AI261408 AA350247 BC064536 
    NM_000196 BX091870 AI521622 AW272700 CB159248 CA944771 AI241836 BG055897 
    CF139622 BM980611 AI619788 CR623797 CR626533 BC036780 AI245191 CR599954 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for HSD11B2    About this scheme

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


    ECgene alternative splicing isoforms for HSD11B2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HSD11B2 expression in normal human tissues (normalized intensities)      HSD11B2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACTGTACTT
    HSD11B2 Expression
    About this image


    HSD11B2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/26 selected tissues (see all 26) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Thalamus
             Brain Pericytes   
             brain/midbrain   
     
     Uterus (Reproductive System)    fully expand to see all 5 entries
             uterus, post-menopause ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             rectum ; glandular cells   
             colonic mucosal (ibs)   
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 3 entries
             small intestine ; glandular cells   
             small intestine   
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Metanephros
             kidney ; cells in tubules   

    See HSD11B2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HSD11B2

    SOURCE GeneReport for Unigene cluster: Hs.1376

    UniProtKB/Swiss-Prot: DHI2_HUMAN, P80365
    Tissue specificity: Found in placenta, kidney, pancreas, prostate, ovary, small intestine and colon

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for HSD11B2 gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hsd11b21 , 5 hydroxysteroid 11-beta dehydrogenase 21, 5 84.16(n)1
    86.75(a)1
      8 (53.04 cM)5
    154841  NM_008289.21  NP_032315.21 
     1055187465 
    chicken
    (Gallus gallus)
    Aves LOC1008583611 corticosteroid 11-beta-dehydrogenase isozyme 2-like 65.36(n)
    58.64(a)
      100858361  XM_003641890.1  XP_003641938.1 
    lizard
    (Anolis carolinensis)
    Reptilia HSD11B26
    Uncharacterized protein
    59(a)
    1 ↔ 1
    GL344971.1(11783-14851)
    zebrafish
    (Danio rerio)
    Actinopterygii hsd11b21 hydroxysteroid 11-beta dehydrogenase 2 53.65(n)
    49.41(a)
      334098  NM_212720.1  NP_997885.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HSD11B2 gene
    SDR9C72  DHRS92  HSD17B62  HSD17B22  BDH12  RDH82  RDH162  DHRS7B2  
    DHRS72  HSD17B12  KDSR2  DHRS7C2  RDH52  
    5 SIMAP similar genes for HSD11B2 using alignment to 2 protein entries:     DHI2_HUMAN (see all proteins):
    HSD17B2    BDH1    DHRS9    RDH16    RDH5

    HSD11B2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/260 SNPs in HSD11B2 are shown (see all 260)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0156364
    Apparent mineralocorticoid excess (AME)4--see VAR_0156362 S F mis40--------
    VAR_0156464
    Apparent mineralocorticoid excess (AME)4--see VAR_0156462 Y H mis40--------
    VAR_0156444
    Apparent mineralocorticoid excess (AME)4--see VAR_0156442 R C mis40--------
    VAR_0665154
    Apparent mineralocorticoid excess (AME)4--see VAR_0665152 R C mis40--------
    VAR_0156354
    Apparent mineralocorticoid excess (AME)4--see VAR_0156352 L R mis40--------
    VAR_0156384
    Apparent mineralocorticoid excess (AME)4--see VAR_0156382 R H mis40--------
    VAR_0156454
    Apparent mineralocorticoid excess (AME)4--see VAR_0156452 A V mis40--------
    VAR_0665144
    Apparent mineralocorticoid excess (AME)4--see VAR_0665142 D N mis40--------
    VAR_0069584
    Apparent mineralocorticoid excess (AME)4--see VAR_0069582 R C mis40--------
    VAR_0156374
    Apparent mineralocorticoid excess (AME)4--see VAR_0156372 R C mis40--------

    HapMap Linkage Disequilibrium report for HSD11B2 (67464555 - 67471456 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for HSD11B2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv906806CNV Loss21882294
    nsv524363CNV Loss19592680
    nsv833266CNV Loss17160897
    nsv471092CNV Gain18288195
    nsv522852CNV Gain19592680


    Human Gene Mutation Database (HGMD): HSD11B2
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 614232    OMIM disorders: --

    UniProtKB/Swiss-Prot: DHI2_HUMAN, P80365
  • 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 20/60 diseases for HSD11B2 (see all 60):    About MalaCards
    apparent mineralocorticoid excess syndrome    adrenal adenoma    anuria    adrenal gland hyperfunction
    north american indian childhood cirrhosis    glucocorticoid resistance    hypertension    hypokalemia
    liddle syndrome    ocular hypertension    cushing's syndrome    hellp syndrome
    nephrocalcinosis    essential hypertension    choriocarcinoma    hyperaldosteronism
    acromegaly    patent ductus arteriosus    pituitary tumors    hyperglycemia

    5 diseases from the University of Copenhagen DISEASES database for HSD11B2:
    Apparent mineralocorticoid excess syndrome     Hypertension     Hypokalemia     Cushing's syndrome
    Hyperaldosteronism

    HSD11B2 for disorders           About GeneDecksing

    10/47 Novoseek inferred disease relationships for HSD11B2 gene (see all 47)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mineralocorticoid hypertension 81.2 5 9683587 (1), 15478032 (1), 15761540 (1), 17035606 (1) (see all 5)
    low renin hypertension 70.7 1 15643127 (1)
    hypokalemia 67.4 12 19150652 (2), 17314322 (1), 15134813 (1), 12788832 (1) (see all 5)
    essential hypertension 60.1 20 9856363 (3), 10760070 (2), 16109323 (2), 14981055 (2) (see all 14)
    intrauterine growth retardation 53.9 18 11600574 (4), 18061258 (1), 9619527 (1), 15591138 (1) (see all 9)
    acth syndrome ectopic 51.7 1 15761540 (1)
    cushing syndrome 48.3 7 12574226 (3), 15761540 (2), 12450320 (1)
    choriocarcinoma 43.7 8 8865170 (2), 10377029 (1), 11118322 (1), 10026096 (1) (see all 6)
    liddles syndrome 39.2 1 11701681 (1)
    preeclampsia 38.8 13 12911547 (2), 19047954 (2), 11238526 (2), 17532462 (2) (see all 6)

    Genatlas disease: HSD11B2
    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)

    Genetic Association Database (GAD): HSD11B2
    Human Genome Epidemiology (HuGE) Navigator: HSD11B2 (13 documents)

    Export disorders for HSD11B2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for HSD11B2 gene, integrated from 9 sources (see all 379):
    (articles sorted by number of sources associating them with HSD11B2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and production of antisera to human placental 11 beta-hydroxysteroid dehydrogenase type 2. (PubMed id 8611140)1, 2, 3, 9 Brown R.W....Seckl J.R. (1996)
    2. Cloning and tissue distribution of the human 11 beta-hydroxysteroid dehydrogenase type 2 enzyme. (PubMed id 7859916)1, 2, 3 Albiston A.L.... Krozowski Z.S. (1994)
    3. Identification of polymorphisms in the human 11beta-hydroxysteroid dehydrogenase type 2 gene promoter: functional characterization and relevance for salt sensitivity. (PubMed id 17551100)1, 4, 9 Alikhani-Koupaei R....Frey F.J. (2007)
    4. Analysis of the 11beta-hydroxysteroid dehydrogenase type 2 gene (HSD11B2) in human essential hypertension. (PubMed id 16109323)1, 4, 9 Mariniello B....Giacchetti G. (2005)
    5. Role of HSD11B2 polymorphisms in essential hypertension and the diuretic response to thiazides. (PubMed id 15673310)1, 4, 9 Williams T.A....Glorioso N. (2005)
    6. The intracellular localization of the mineralocorticoid receptor is regulated by 11beta-hydroxysteroid dehydrogenase type 2. (PubMed id 11350956)1, 2, 9 Odermatt A.... Frey F.J. (2001)
    7. Association studies between the HSD11B2 gene (encoding human 11beta-hydroxysteroid dehydrogenase type 2), type 1 diabetes mellitus and diabetic nephropathy. (PubMed id 11916625)1, 4, 9 Lavery G.G....Stewart P.M. (2002)
    8. Two homozygous mutations in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess. (PubMed id 12788846)1, 2, 9 Carvajal C.A....Fardella C.E. (2003)
    9. A genetic defect resulting in mild low-renin hypertension. (PubMed id 9707624)1, 2, 9 Wilson R.C....New M.I. (1998)
    10. Purification of 11 beta-hydroxysteroid dehydrogenase type 2 from human placenta utilizing a novel affinity labelling technique. (PubMed id 8611186)1, 2, 9 Brown R.W.... Seckl J.R. (1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3291 HGNC: 5209 AceView: HSD11B2 Ensembl:ENSG00000176387 euGenes: HUgn3291
    ECgene: HSD11B2 Kegg: 3291 H-InvDB: HSD11B2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HSD11B2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HSD11B2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HSD11B2 gene:
    Search GeneIP for patents involving HSD11B2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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