Hsd17b4 MGI Mouse Gene Detail - MGI:105089 - hydroxysteroid (17-beta) dehydrogenase 4

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
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr18:50261268-50329336 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 18, 27.24 cM
Mapping Data

2 experiments

SNPs within 2kb

2262 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_105089	protein coding gene	Chr18:50261268-50329337 (+)
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 (+)

Human Ortholog

HSD17B4, hydroxysteroid 17-beta dehydrogenase 4

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

HSD17B4, hydroxysteroid 17-beta dehydrogenase 4
Synonyms

DBP, MFE-2, MFP-2, MPF-2, PRLTS1, SDR8C1
Links

HGNC:5213

NCBI Gene ID: 3295

neXtProt AC: NX_P51659

UniProt: P51659
Chr Location

5q23.1; chr5:119452465-119637199 (+) GRCh38

MGI Vertebrate Homology

Hsd17b4 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: HSD17B4
Gene Tree

Hsd17b4

Diseases

1 with Hsd17b4 mouse models; 3 with human HSD17B4 associations

Human Disease

Mouse Models

D-bifunctional protein deficiency

IDs

View 2 models

Perrault syndrome

IDs

Stiff-Person syndrome

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

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Phenotype Summary

60 phenotypes from 3 alleles in 5 genetic backgrounds
14 phenotypes from multigenic genotypes
3 images
34 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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

14
Endonuclease-mediated

5
Gene trapped

6
Spontaneous

1
Targeted

2
Genomic Mutations

1 involving Hsd17b4
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

51 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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.

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All GO Annotations

42
GO References

15

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.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

997
Tissues

134
cDNA Data

17
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase hsd17b4

ZFIN hsd17b4

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All Sequences

56
RefSeq

2
UniProt

3
CCDS

CCDS29242.1

Ensembl

ENSMUSG00000024507 (Evidence)
NCBI Gene

15488

			Length	Strain/Species	Flank
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

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UniProt

3 Sequences
Protein Ontology

PR:000008781 peroxisomal multifunctional enzyme type 2

(term hierarchy)
EC

1.1.1.n12, 4.2.1.107, 4.2.1.119
InterPro Domains

IPR029069 HotDog domain superfamily

IPR002539 MaoC-like dehydratase domain

IPR036291 NAD(P)-binding domain superfamily

IPR051687 Peroxisomal Beta-Oxidation Enzymes

IPR003033 SCP2 sterol-binding domain

IPR036527 SCP2 sterol-binding domain superfamily

IPR020904 Short-chain dehydrogenase/reductase, conserved site

IPR002347 Short-chain dehydrogenase/reductase SDR
GlyGen

P51660 3 sites, 2 N-linked glycans (2 sites), 1 O-linked glycan (1 site)

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All nucleic 18

cDNA 17

Primer pair 1

Microarray probesets 3

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MGD-MRK-32129, MGI:2147354

Summaries

All 75

Developmental Gene Expression 4

Diseases 3

Gene Ontology 15

Phenotypes 34
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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Hsd17b4:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr151022	Chr18:50261267-50261272 (+)	2 bp
Tssr151023	Chr18:50261278-50261334 (+)	38 bp
Tssr151024	Chr18:50261336-50261400 (+)	100 bp
Tssr151025	Chr18:50264432-50264436 (+)	3,166 bp
Tssr151029	Chr18:50288584-50288588 (+)	27,318 bp
Tssr151030	Chr18:50314402-50314411 (+)	53,139 bp

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24