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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
Location & Maps
more
  • Sequence Map
    Chr18:50128201-50196269 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      68069 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 18, 27.24 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    HSD17B4, hydroxysteroid 17-beta dehydrogenase 4
  • Vertebrate Orthologs
    10
  • Human Ortholog
    HSD17B4, hydroxysteroid 17-beta dehydrogenase 4
    Orthology source: HGNC, HomoloGene
  • Synonyms
    DBP, MFE-2, MPF-2, PRLTS1, SDR8C1
  • Links
    NCBI Gene ID: 3295
    neXtProt AC: NX_P51659

  • Chr Location
    5q21; chr5:119452443-119542335 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Hsd17b4 mouse models; 2 with human HSD17B4 associations

Human Disease Mouse Models
       D-Bifunctional Protein Deficiency   OMIM: 261515 View 2 models
       Perrault Syndrome 1; PRLTS1   OMIM: 233400
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
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  • Phenotype Summary
    43 phenotypes from 2 alleles in 4 genetic backgrounds
    14 phenotypes from multigenic genotypes
    3 images
    15 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
    8
  • Gene trapped
    6
  • Targeted
    2
  • Incidental Mutations
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
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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 OTTMUSG00000021126 VEGA Gene Model | MGI Sequence Detail 68069 C57BL/6J ±  kb
transcript OTTMUST00000050011 VEGA | MGI Sequence Detail 2684 Not Applicable  
polypeptide OTTMUSP00000023277 VEGA | MGI Sequence Detail 735 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    388 from dbSNP Build 142
Protein
Information
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Molecular
Reagents
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  • All nucleic 16
    cDNA 15
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-32129, MGI:2147354
References
more
  • Summaries
    All 50
    Developmental Gene Expression 4
    Diseases 3
    Gene Ontology 10
    Phenotypes 15
  • 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:223349 Verheijden S, et al., Identification of a chronic non-neurodegenerative microglia activation state in a mouse model of peroxisomal beta-oxidation deficiency. Glia. 2015 Sep;63(9):1606-20

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
07/19/2016
MGI 6.04
The Jackson Laboratory