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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
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr8:105518755-105523988 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      5234 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, HGNC
  • Synonyms
    AME, AME1, HSD11K, HSD2, SDR9C3
  • Links
    NCBI Gene ID: 3291
    neXtProt AC: NX_P80365
    UniProt: P80365

  • Chr Location
    16q22.1; chr16:67431133-67437553 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human HSD11B2 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

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
    23 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.
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 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
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000062049 VEGA Gene Model | MGI Sequence Detail 5234 C57BL/6J ±  kb
    transcript OTTMUST00000151485 VEGA | MGI Sequence Detail 1840 Not Applicable  
    polypeptide OTTMUSP00000078556 VEGA | MGI Sequence Detail 386 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      46 from dbSNP Build 142
    Protein
    Information
    less
    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 68
      Developmental Gene Expression 13
      Gene Ontology 4
      Phenotypes 23
    • 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:256132 Resch JM, et al., Aldosterone-Sensing Neurons in the NTS Exhibit State-Dependent Pacemaker Activity and Drive Sodium Appetite via Synergy with Angiotensin II Signaling. Neuron. 2017 Sep 27;96(1):190-206.e7

    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
    05/15/2018
    MGI 6.12
    The Jackson Laboratory