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Hsd11b2 Gene Detail
Summary
  • Symbol
    Hsd11b2
  • Name
    hydroxysteroid 11-beta dehydrogenase 2
  • Synonyms
    11(beta)-HSD2, 11HSD2
  • Feature Type
    protein coding gene
  • IDs
    MGI:104720
    NCBI Gene: 15484
Location & Maps
more
  • Sequence Map
    Chr8:105518746-105523984 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      5239 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 53.04 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    HSD11B2, hydroxysteroid 11-beta dehydrogenase 2
  • Vertebrate Orthologs
    11
  • Human Ortholog
    HSD11B2, hydroxysteroid 11-beta dehydrogenase 2
    Orthology source: HomoloGene
  • Synonyms
    AME, AME1, HSD11K, HSD2, SDR9C3
  • Links
    NCBI Gene ID: 3291
    neXtProt AC: NX_P80365

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

Human Diseases
more
  • Diseases
    1 with Hsd11b2 mouse models; 1 with human HSD11B2 associations

Human Disease Mouse Models
       Apparent Mineralocorticoid Excess; AME   OMIM: 218030 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    18 phenotypes from 1 allele in 1 genetic background
    4 phenotypes from multigenic genotypes
    2 images
    19 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    6
  • Targeted
    5
  • Transgenic
    1
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    46 from dbSNP Build 142
Protein
Information
less
  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000008772 corticosteroid 11-beta-dehydrogenase isozyme 2
  • EC
  • InterPro Domains
    IPR016040 NAD(P)-binding domain
    IPR020904 Short-chain dehydrogenase/reductase, conserved site
    IPR002347 Short-chain dehydrogenase/reductase SDR
Molecular
Reagents
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  • All nucleic 35
    Genomic 1
    cDNA 32
    Primer pair 2

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-27083
References
more
  • Summaries
    All 54
    Developmental Gene Expression 13
    Diseases 2
    Gene Ontology 5
    Phenotypes 19
  • 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

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory