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Hsd17b4
Gene Detail
 Symbol
Name
ID
Hsd17b4
hydroxysteroid (17-beta) dehydrogenase 4
MGI:105089
Synonyms 17[b]-HSD, D-bifunctional protein, MFE-2, Mfp-2, MFP2, multifunctional protein 2, perMFE-2
Feature Type protein coding gene
Genetic Map
Chromosome 18
27.24 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr18:50128201-50196269 bp, + strand
From VEGA annotation of GRCm38

  68069 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:358  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Hsd17b4

Human
homologs
Human Homolog HSD17B4, hydroxysteroid (17-beta) dehydrogenase 4
NCBI Gene ID 3295
neXtProt AC  NX_P51659
Human Synonyms  DBP, MFE-2, MPF-2, PRLTS1, SDR8C1
Human Chr (Location)  5q21; chr5:119452443-119542335 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human HSD17B4
Mutations,
alleles, and
phenotypes
All mutations/alleles(8) : Gene trapped(6) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Hsd17b4 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(3)
Interactions
Hsd17b4 interacts with 72 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (30 annotations)
Process androgen metabolic process, estrogen metabolic process, ...
Component intracellular membrane-bounded organelle, membrane, ...
Function 17-beta-hydroxysteroid dehydrogenase (NAD+) activity, 3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (269)    Tissues (120)    Images (32)
Theiler Stages: 15, 19, 22, 23, 26, 27, 28
Assay TypeResults
RNA in situ 239
Northern blot 15
Western blot 15
cDNA source data(15)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(16) cDNA(15) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000021126 (Evidence)
Ensembl Gene ModelENSMUSG00000024507 (Evidence)
Entrez Gene15488 (Evidence)
DFCITC1573583
DoTSDT.534544
NIA Mouse Gene IndexU018718
EC1.1.1.n12, 4.2.1.107, 4.2.1.119
Consensus CDS ProjectCCDS29242.1
International Mouse Knockout Project StatusHsd17b4
Sequences
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 sequences
All sequences(45) RefSeq(2) UniProt(3)
Polymorphisms SNPs within 2kb(393 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002347 Glucose/ribitol dehydrogenase
InterPro IPR002539 MaoC-like domain
InterPro IPR016040 NAD(P)-binding domain
InterPro IPR003033 SCP2 sterol-binding domain
InterPro IPR020904 Short-chain dehydrogenase/reductase, conserved site
InterPro IPR002198 Short-chain dehydrogenase/reductase SDR
Protein Ontology PR:000008781 peroxisomal multifunctional enzyme type 2
References (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:201698 Verheijden S, et al., Peroxisomal multifunctional protein-2 deficiency causes neuroinflammation and degeneration of Purkinje cells independent of very long chain fatty acid accumulation. Neurobiol Dis. 2013 Oct;58:258-69
All references(54)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-32129, MGI:2147354

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
09/09/2014
MGI 5.19
The Jackson Laboratory