About   Help   FAQ
Hsd17b4 Gene Detail
Summary
  • Symbol
    Hsd17b4
  • Name
    hydroxysteroid (17-beta) dehydrogenase 4
  • Synonyms
    17[b]-HSD, D-bifunctional protein, MFE-2, Mfp-2, MFP2, multifunctional protein 2, perMFE-2
  • Feature Type
    protein coding gene
  • IDs
    MGI:105089
    NCBI Gene: 15488
  • Gene Overview
    MyGene.info: HSD17B4
  • Alliance
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:50128201-50196269 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 18, 27.24 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    388 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_105089
protein coding gene Chr18:50128201-50196270 (.)
129S1/SvImJ MGP_129S1SvImJ_G0024421
protein coding gene Chr18:49150420-49224731 (+)
A/J MGP_AJ_G0024387
protein coding gene Chr18:47295101-47364037 (+)
AKR/J MGP_AKRJ_G0024357
protein coding gene Chr18:48607696-48677559 (+)
BALB/cJ MGP_BALBcJ_G0024387
protein coding gene Chr18:47421455-47491126 (+)
C3H/HeJ MGP_C3HHeJ_G0024154
protein coding gene Chr18:48740714-48812364 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024833
protein coding gene Chr18:50791887-50871693 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0022266
protein coding gene Chr18:46989326-47063128 (+)
CAST/EiJ MGP_CASTEiJ_G0023629
protein coding gene Chr18:48713929-48784569 (+)
CBA/J MGP_CBAJ_G0024124
protein coding gene Chr18:52278887-52355939 (+)
DBA/2J MGP_DBA2J_G0024254
protein coding gene Chr18:46932952-47001617 (+)
FVB/NJ MGP_FVBNJ_G0024221
protein coding gene Chr18:46485590-46561187 (+)
LP/J MGP_LPJ_G0024339
protein coding gene Chr18:49171675-49241200 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0024251
protein coding gene Chr18:53806267-53876801 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0024880
protein coding gene Chr18:48575907-48651402 (+)
PWK/PhJ MGP_PWKPhJ_G0023372
protein coding gene Chr18:47061708-47131879 (+)
SPRET/EiJ MGP_SPRETEiJ_G0023178
protein coding gene Chr18:48806893-48879221 (+)
WSB/EiJ MGP_WSBEiJ_G0023692
protein coding gene Chr18:48463841-48544391 (+)



Homology
more
  • Human Ortholog
    HSD17B4, hydroxysteroid 17-beta dehydrogenase 4
  • Vertebrate Orthologs
    10
  • Human Ortholog
    HSD17B4, hydroxysteroid 17-beta dehydrogenase 4
    Orthology source: HomoloGene, HGNC
  • Synonyms
    DBP, MFE-2, MPF-2, PRLTS1, SDR8C1
  • Links
    NCBI Gene ID: 3295
    neXtProt AC: NX_P51659
    UniProt: P51659

  • Chr Location
    5q23.1; chr5:119452443-119542335 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 358
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: HSD17B4
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Hsd17b4 mouse models; 2 with human HSD17B4 associations

Human Disease Mouse Models
      
IDs
View 2 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    43 phenotypes from 2 alleles in 4 genetic backgrounds
    14 phenotypes from multigenic genotypes
    3 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
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.
Mice homozygous for disruptions in this gene have abnormalities in fatty acid metabolism, retarded growth, abnormal bile salt composition, impaired coordination, demyelination and premature death.
Gene Ontology
(GO)
Classifications
less
  • 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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000024507 Ensembl Gene Model | MGI Sequence Detail 68069 C57BL/6J ±  kb
    transcript ENSMUST00000025385 Ensembl | MGI Sequence Detail 2684 Not Applicable  
    polypeptide ENSMUSP00000025385 Ensembl | MGI Sequence Detail 735 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 18
      cDNA 17
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-32129, MGI:2147354
    References
    more
    • Summaries
      All 55
      Developmental Gene Expression 4
      Diseases 3
      Gene Ontology 10
      Phenotypes 19
    • Earliest
      J:30644 Normand T, et al., Molecular characterization of mouse 17 beta-hydroxysteroid dehydrogenase IV. J Steroid Biochem Mol Biol. 1995 Dec;55(5-6):541-8
    • Latest
      J:262136 Beckers L, et al., Specific suppression of microgliosis cannot circumvent the severe neuropathology in peroxisomal beta-oxidation-deficient mice. Mol Cell Neurosci. 2017 Apr;80:123-133

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory