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Hsd17b12 Gene Detail
Summary
  • Symbol
    Hsd17b12
  • Name
    hydroxysteroid (17-beta) dehydrogenase 12
  • Synonyms
    2610510O05Rik, keratoadhesin, keratonectin, KIK-I
  • Feature Type
    protein coding gene
  • IDs
    MGI:1926967
    NCBI Gene: 56348
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:93863042-93988254 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 51.62 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2978 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1926967
 protein coding gene Chr2:93863034-93988309 (-)
129S1/SvImJ MGP_129S1SvImJ_G0026184
 protein coding gene Chr2:95560492-95687968 (-)
A/J MGP_AJ_G0026145
 protein coding gene Chr2:91672415-91796035 (-)
AKR/J MGP_AKRJ_G0026126
 protein coding gene Chr2:94249768-94377166 (-)
BALB/cJ MGP_BALBcJ_G0026154
 protein coding gene Chr2:91865773-91993207 (-)
C3H/HeJ MGP_C3HHeJ_G0025905
 protein coding gene Chr2:94521408-94648645 (-)
C57BL/6NJ MGP_C57BL6NJ_G0026605
 protein coding gene Chr2:98806349-98934610 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0023996
 protein coding gene Chr2:88149349-88276389 (-)
CAST/EiJ MGP_CASTEiJ_G0025370
 protein coding gene Chr2:95125851-95253153 (-)
CBA/J MGP_CBAJ_G0025883
 protein coding gene Chr2:102261584-102394522 (-)
DBA/2J MGP_DBA2J_G0026019
 protein coding gene Chr2:91277829-91402845 (-)
FVB/NJ MGP_FVBNJ_G0025982
 protein coding gene Chr2:90399989-90527682 (-)
LP/J MGP_LPJ_G0026123
 protein coding gene Chr2:95750005-95883593 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0026008
 protein coding gene Chr2:105145628-105278328 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0026659
 protein coding gene Chr2:94326803-94458421 (-)
PWK/PhJ MGP_PWKPhJ_G0025105
 protein coding gene Chr2:91028258-91155244 (-)
SPRET/EiJ MGP_SPRETEiJ_G0024906
 protein coding gene Chr2:93889632-94019022 (-)
WSB/EiJ MGP_WSBEiJ_G0025437
 protein coding gene Chr2:94944999-95072256 (-)



Homology
more
  • Human Ortholog
    HSD17B12, hydroxysteroid 17-beta dehydrogenase 12
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HSD17B12, hydroxysteroid 17-beta dehydrogenase 12
  • Synonyms
    KAR, SDR12C1
  • Links
    NCBI Gene ID: 51144
    neXtProt AC: NX_Q53GQ0
    UniProt: Q53GQ0

  • Chr Location
    11p11.2; chr11:43556721-43856617 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    14 phenotypes from 1 allele in 1 genetic background
    22 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.
Mice homozygous for a gene trap allele exhibit die around E8.5 with abnormal embryonic and extraembryonic tissue development. ES cells heterozygous for this allele exhibit reduced arachidonic acid levels.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    18
  • GO References
    7
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    835
  • Tissues
    118
  • cDNA Data
    160
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 56348 NCBI Gene Model | MGI Sequence Detail 125213 C57BL/6J ±  kb
    transcript NM_019657 RefSeq | MGI Sequence Detail 1839 C57BL/6  
    polypeptide O70503 UniProt | EBI | MGI Sequence Detail 312 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 163
      cDNA 161
      Primer pair 1
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1923794, MGI:2138848
    References
    more
    • Summaries
      All 57
      Developmental Gene Expression 6
      Gene Ontology 7
      Phenotypes 22
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:296856 Heikela H, et al., Hydroxysteroid (17beta) dehydrogenase 12 is essential for metabolic homeostasis in adult mice. Am J Physiol Endocrinol Metab. 2020 Sep 1;319(3):E494-E508
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory