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 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; chr5:118788138-118878030 (+)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human HSD17B4

Alleles and phenotypes

All alleles(7) : Targeted(1) Gene trapped(6)
 

Mice homozygous for disruptions in this gene have abnormalities infatty acid metabolism. The mice have retarded growth and abnormal bile salt composition.

 
Human Diseases Modeled Using Mouse Hsd17b4 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(3)

Gene Ontology (GO) classifications

All GO classifications: (29 annotations)

Process	androgen metabolic process, estrogen metabolic process, ...
Component	intracellular membrane-bounded organelle, mitochondrion, ...
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 (118)    Images (32)
Theiler Stages: 15, 19, 22, 23, 26, 28

Assay Type	Results
RNA in situ	239
Northern blot	15
Western blot	15

cDNA source data(15)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(16) cDNA(15) Primer pair(1)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000021126 (Evidence)
Ensembl Gene Model	ENSMUSG00000024507 (Evidence)
Entrez Gene	15488 (Evidence)
DFCI	TC1573583
DoTS	DT.534544
NIA Mouse Gene Index	U018718
EC	1.1.1.n12, 4.2.1.107, 4.2.1.119
Consensus CDS Project	CCDS29242.1
International Mouse Knockout Project Status	Hsd17b4

Sequences

Length	Strain/Species
genomic	OTTMUSG00000021126	VEGA Gene Model | MGI Sequence Detail	68069	C57BL/6J
transcript	OTTMUST00000050011	VEGA | MGI Sequence Detail	2684	Not Applicable
polypeptide	OTTMUSP00000023277	VEGA | MGI Sequence Detail	735	Not Applicable

All sequences(45) RefSeq(2) UniProt(3)

Polymorphisms

SNPs(329 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR002347	Glucose/ribitol dehydrogenase
InterPro	IPR002539	MaoC-like dehydratase
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:153498 Diez-Roux G, et al., A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011;9(1):e1000582
All references(53)

Other accession IDs

MGD-MRK-32129, MGI:2147354