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Hsd11b2
Gene Detail
Symbol

Name
ID
Hsd11b2
hydroxysteroid 11-beta dehydrogenase 2
MGI:104720
Synonyms
11(beta)-HSD2, 11HSD2
Feature Type
protein coding gene
Genetic Map
Chromosome 8
53.04 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr8:105518746-105523984 bp, + strand
From Ensembl annotation of GRCm38

  5239 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:20088  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 2 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: HSD11B2
Protein SuperFamily: retinol dehydrogenase
Gene Tree: Hsd11b2

Human
homologs
HSD11B2, hydroxysteroid (11-beta) dehydrogenase 2
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 3291
neXtProt AC: NX_P80365

Human Synonyms: AME, AME1, HSD11K, HSD2, SDR9C3

Human Chr (Location): 16q22; chr16:67431133-67437553 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human HSD11B2

Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
About half of all mice homozygous for disruptions in this gene die within 48 hours of birth. Survivors are subject to sudden unexplained deaths when between 2 and 4 months of age. They are hypertensive with dilute urine and are hypokalemic and hypochloremic.
 
Human Diseases Modeled in Mice Using Hsd11b2 (1)    Mutations Annotated to Human Diseases (1)    Phenotype Images(2)
Interactions
Hsd11b2 interacts with 94 markers (Mir17, Mir20a, Mir20b, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (13 records)
Data Summary: Results (226)    Tissues (117)    Images (26)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 186
RT-PCR 40
cDNA source data(32)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase hsd11b2 ; ZFIN hsd11b2    NEW 
Molecular
reagents
All nucleic(35) Genomic(1) cDNA(32) Primer pair(2)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000031891 (Evidence)
Entrez Gene 15484 (Evidence)
UniGene 5079
DFCI TC1579884, TC1775557
DoTS DT.102555316, DT.60108886
NIA Mouse Gene Index U009748
EC 1.1.1.-
Consensus CDS Project CCDS40460.1
International Mouse Phenotyping Consortium Status Hsd11b2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000031891 Ensembl Gene Model | MGI Sequence Detail 5239 C57BL/6J ±  kb
transcript ENSMUST00000034363 Ensembl | MGI Sequence Detail 1845 Not Applicable 
polypeptide ENSMUSP00000034363 Ensembl | MGI Sequence Detail 386 Not Applicable 

For the selected sequences
All sequences(20) RefSeq(2) UniProt(3)
Polymorphisms
SNPs within 2kb(50 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002347 Glucose/ribitol dehydrogenase
InterPro IPR016040 NAD(P)-binding domain
InterPro IPR020904 Short-chain dehydrogenase/reductase, conserved site
InterPro IPR002198 Short-chain dehydrogenase/reductase SDR
Protein Ontology PR:000008772 corticosteroid 11-beta-dehydrogenase isozyme 2
References
(Earliest) J:29215 Cole TJ, Cloning of the mouse 11 beta-hydroxysteroid dehydrogenase type 2 gene: tissue specific expression and localization in distal convoluted tubules and collecting ducts of the kidney. Endocrinology. 1995 Oct;136(10):4693-6
(Latest) J:210262 Boucher E, et al., Ontogeny of adrenal-like glucocorticoid synthesis pathway and of 20alpha-hydroxysteroid dehydrogenase in the mouse lung. BMC Res Notes. 2014;7:119
All references(57)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-27083

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory