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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
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:105518755-105523988 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 53.04 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    46 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104720
protein coding gene Chr8:105518746-105523988 (.)
129S1/SvImJ MGP_129S1SvImJ_G0034048
protein coding gene Chr8:107806258-107811367 (+)
A/J MGP_AJ_G0034029
protein coding gene Chr8:103499116-103504374 (+)
AKR/J MGP_AKRJ_G0033955
protein coding gene Chr8:106492150-106497270 (+)
BALB/cJ MGP_BALBcJ_G0034022
protein coding gene Chr8:103683308-103688459 (+)
C3H/HeJ MGP_C3HHeJ_G0033734
protein coding gene Chr8:107236229-107241966 (+)
C57BL/6NJ MGP_C57BL6NJ_G0034542
protein coding gene Chr8:111753897-111760767 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0031484
protein coding gene Chr8:96643373-96648643 (+)
CAST/EiJ MGP_CASTEiJ_G0033060
protein coding gene Chr8:106735028-106740259 (+)
CBA/J MGP_CBAJ_G0033707
protein coding gene Chr8:115366771-115371884 (+)
DBA/2J MGP_DBA2J_G0033862
protein coding gene Chr8:102843840-102848920 (+)
FVB/NJ MGP_FVBNJ_G0033808
protein coding gene Chr8:101773247-101779045 (+)
LP/J MGP_LPJ_G0033953
protein coding gene Chr8:108011267-108016639 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0033851
protein coding gene Chr8:118567026-118572278 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0034560
protein coding gene Chr8:106463468-106468590 (+)
PWK/PhJ MGP_PWKPhJ_G0032761
protein coding gene Chr8:102235333-102240606 (+)
SPRET/EiJ MGP_SPRETEiJ_G0032602
protein coding gene Chr8:105138664-105143923 (+)
WSB/EiJ MGP_WSBEiJ_G0033176
protein coding gene Chr8:107121462-107126686 (+)



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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000031891 Ensembl Gene Model | MGI Sequence Detail 5234 C57BL/6J ±  kb
    transcript ENSMUST00000034363 Ensembl | MGI Sequence Detail 1840 Not Applicable  
    polypeptide ENSMUSP00000034363 Ensembl | MGI Sequence Detail 386 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 36
      Genomic 1
      cDNA 33
      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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory