• Gene id: 3295

Gene Summary

• Gene Symbol: HSD17B4   Gene   UCSC   Ensembl
• Aliases: DBP, MFE-2, MPF-2, PRLTS1, SDR8C1
• Gene name: hydroxysteroid 17-beta dehydrogenase 4
• Alternate names: peroxisomal multifunctional enzyme type 2, 17-beta-HSD 4, 17-beta-HSD IV, 17-beta-hydroxysteroid dehydrogenase 4, 17beta-estradiol dehydrogenase type IV, 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase, D-3-hydroxyacyl-CoA dehydr,
• Gene location: 5q23.1 (119452442: 119542334)     Exons: 25     NC_000005.10
• Gene summary(Entrez): The protein encoded by this gene is a bifunctional enzyme that is involved in the peroxisomal beta-oxidation pathway for fatty acids. It also acts as a catalyst for the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branch
• OMIM: 601860

SNPs

rs25640

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.119475838G>A
NC_000005.10   g.119475838G>C
NC_000005.9   g.118811533G>A
NC_000005.9   g.118811533G>C
NG_008182.1   g.28386G>A
NG_008182.1   g.28386G>C
NM_000414.4   c.317G>A
NM_000414.4   c.317G>C
NM_000414.3   c.317G>A
NM_000414.3   c.317G>C
NM_0011992  

rs11205

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.119526018A>G
NC_000005.9   g.118861713A>G
NG_008182.1   g.78566A>G
NM_000414.4   c.1675A>G
NM_000414.3   c.1675A>G
NM_001199291.3   c.1750A>G
NM_001199291.2   c.1750A>G
NM_001199291.1   c.1750A>G
NM_001292028.2   c.1255A>G
NM_001292028.1   c.1255A>G
NM_  

rs28943594

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.119541965A>G
NC_000005.9   g.118877660A>G
NG_008182.1   g.94513A>G
NM_000414.4   c.2182A>G
NM_000414.3   c.2182A>G
NM_001199291.3   c.2257A>G
NM_001199291.2   c.2257A>G
NM_001199291.1   c.2257A>G
NM_001292028.2   c.1762A>G
NM_001292028.1   c.1762A>G
NM_  

Protein Summary

• Protein general information: P51659  
  • Name: Peroxisomal multifunctional enzyme type 2 (MFE 2) (17 beta hydroxysteroid dehydrogenase 4) (17 beta HSD 4) (D bifunctional protein) (DBP) (Multifunctional protein 2) (MPF 2) (Short chain dehydrogenase/reductase family 8C member 1) [Cleaved into: (3R) hydr
  • Length: 736  
  • Mass: 79,686
  • Tissue specificity: Ubiquitously expressed, with highest levels in the testis and ovary. {ECO
• Sequence:

  MGSPLRFDGRVVLVTGAGAGLGRAYALAFAERGALVVVNDLGGDFKGVGKGSLAADKVVEEIRRRGGKAVANYDS
  VEEGEKVVKTALDAFGRIDVVVNNAGILRDRSFARISDEDWDIIHRVHLRGSFQVTRAAWEHMKKQKYGRIIMTS
  SASGIYGNFGQANYSAAKLGLLGLANSLAIEGRKSNIHCNTIAPNAGSRMTQTVMPEDLVEALKPEYVAPLVLWL
  CHESCEENGGLFEVGAGWIGKLRWERTLGAIVRQKNHPMTPEAVKANWKKICDFENASKPQSIQESTGSIIEVLS
  KIDSEGGVSANHTSRATSTATSGFAGAIGQKLPPFSYAYTELEAIMYALGVGASIKDPKDLKFIYEGSSDFSCLP
  TFGVIIGQKSMMGGGLAEIPGLSINFAKVLHGEQYLELYKPLPRAGKLKCEAVVADVLDKGSGVVIIMDVYSYSE
  KELICHNQFSLFLVGSGGFGGKRTSDKVKVAVAIPNRPPDAVLTDTTSLNQAALYRLSGDWNPLHIDPNFASLAG
  FDKPILHGLCTFGFSARRVLQQFADNDVSRFKAIKARFAKPVYPGQTLQTEMWKEGNRIHFQTKVQETGDIVISN
  AYVDLAPTSGTSAKTPSEGGKLQSTFVFEEIGRRLKDIGPEVVKKVNAVFEWHITKGGNIGAKWTIDLKSGSGKV
  YQGPAKGAADTTIILSDEDFMEVVLGKLDPQKAFFSGRLKARGNIMLSQKLQMILKDYAKL

• Structural information:
  • Protein Domains: MaoC-like (484-600)
    SCP2. (624-736)
  • Interpro: IPR029069  IPR002539  IPR036291  IPR020904  IPR003033   IPR036527  IPR002347  
  • Prosite: PS00061
  • PDB: 1IKT 1S9C 1ZBQ
  • PDBsum: 1IKT 1S9C 1ZBQ
  • STRING: ENSP00000420914
• Other Databases: GeneCards:  HSD17B4  Malacards:  HSD17B4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000038	very long-chain fatty acid metabolic process	IEA	biological process
GO:0001649	osteoblast differentiation	IDA	biological process
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	IDA	molecular function
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	IDA	molecular function
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	IMP	molecular function
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	TAS	molecular function
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	TAS	molecular function
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	TAS	molecular function
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	TAS	molecular function
GO:0005102	receptor binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0005777	peroxisome	NAS	cellular component
GO:0005777	peroxisome	NAS	cellular component
GO:0005778	peroxisomal membrane	IDA	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0006635	fatty acid beta-oxidation	IDA	biological process
GO:0006699	bile acid biosynthetic process	TAS	biological process
GO:0008209	androgen metabolic process	IDA	biological process
GO:0008210	estrogen metabolic process	IDA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0016508	long-chain-enoyl-CoA hydratase activity	IDA	molecular function
GO:0016508	long-chain-enoyl-CoA hydratase activity	IDA	molecular function
GO:0016508	long-chain-enoyl-CoA hydratase activity	IDA	molecular function
GO:0016508	long-chain-enoyl-CoA hydratase activity	IDA	molecular function
GO:0016508	long-chain-enoyl-CoA hydratase activity	TAS	molecular function
GO:0016508	long-chain-enoyl-CoA hydratase activity	TAS	molecular function
GO:0016508	long-chain-enoyl-CoA hydratase activity	TAS	molecular function
GO:0016508	long-chain-enoyl-CoA hydratase activity	TAS	molecular function
GO:0016853	isomerase activity	IEA	molecular function
GO:0033540	fatty acid beta-oxidation using acyl-CoA oxidase	TAS	biological process
GO:0033540	fatty acid beta-oxidation using acyl-CoA oxidase	TAS	biological process
GO:0033989	3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity	TAS	molecular function
GO:0033989	3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity	TAS	molecular function
GO:0036109	alpha-linolenic acid metabolic process	TAS	biological process
GO:0036111	very long-chain fatty-acyl-CoA metabolic process	IDA	biological process
GO:0036112	medium-chain fatty-acyl-CoA metabolic process	IDA	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0044594	17-beta-hydroxysteroid dehydrogenase (NAD+) activity	IDA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0060009	Sertoli cell development	IEA	biological process
GO:0000038	very long-chain fatty acid metabolic process	IEA	biological process
GO:0001649	osteoblast differentiation	IDA	biological process
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	IDA	molecular function
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	IDA	molecular function
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	IMP	molecular function
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	TAS	molecular function
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	TAS	molecular function
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	TAS	molecular function
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	TAS	molecular function
GO:0005102	receptor binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0005777	peroxisome	NAS	cellular component
GO:0005777	peroxisome	NAS	cellular component
GO:0005778	peroxisomal membrane	IDA	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0006635	fatty acid beta-oxidation	IEA	biological process
GO:0006635	fatty acid beta-oxidation	IEA	biological process
GO:0006635	fatty acid beta-oxidation	IDA	biological process
GO:0006699	bile acid biosynthetic process	TAS	biological process
GO:0008209	androgen metabolic process	IDA	biological process
GO:0008210	estrogen metabolic process	IDA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016508	long-chain-enoyl-CoA hydratase activity	IDA	molecular function
GO:0016508	long-chain-enoyl-CoA hydratase activity	IDA	molecular function
GO:0016508	long-chain-enoyl-CoA hydratase activity	IDA	molecular function
GO:0016508	long-chain-enoyl-CoA hydratase activity	IDA	molecular function
GO:0016508	long-chain-enoyl-CoA hydratase activity	TAS	molecular function
GO:0016508	long-chain-enoyl-CoA hydratase activity	TAS	molecular function
GO:0016508	long-chain-enoyl-CoA hydratase activity	TAS	molecular function
GO:0016508	long-chain-enoyl-CoA hydratase activity	TAS	molecular function
GO:0016616	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0016853	isomerase activity	IEA	molecular function
GO:0033540	fatty acid beta-oxidation using acyl-CoA oxidase	TAS	biological process
GO:0033540	fatty acid beta-oxidation using acyl-CoA oxidase	TAS	biological process
GO:0033989	3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity	IEA	molecular function
GO:0033989	3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity	TAS	molecular function
GO:0033989	3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity	TAS	molecular function
GO:0036109	alpha-linolenic acid metabolic process	TAS	biological process
GO:0036111	very long-chain fatty-acyl-CoA metabolic process	IDA	biological process
GO:0036112	medium-chain fatty-acyl-CoA metabolic process	IDA	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0044594	17-beta-hydroxysteroid dehydrogenase (NAD+) activity	IDA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0060009	Sertoli cell development	IEA	biological process
GO:0001649	osteoblast differentiation	IDA	biological process
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	IDA	molecular function
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	IDA	molecular function
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	IMP	molecular function
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	TAS	molecular function
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	TAS	molecular function
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	TAS	molecular function
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	TAS	molecular function
GO:0005102	receptor binding	IPI	molecular function
GO:0005777	peroxisome	IDA	cellular component
GO:0005777	peroxisome	NAS	cellular component
GO:0005777	peroxisome	NAS	cellular component
GO:0005778	peroxisomal membrane	IDA	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0006635	fatty acid beta-oxidation	IDA	biological process
GO:0006699	bile acid biosynthetic process	TAS	biological process
GO:0008209	androgen metabolic process	IDA	biological process
GO:0008210	estrogen metabolic process	IDA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0016508	long-chain-enoyl-CoA hydratase activity	IDA	molecular function
GO:0016508	long-chain-enoyl-CoA hydratase activity	IDA	molecular function
GO:0016508	long-chain-enoyl-CoA hydratase activity	IDA	molecular function
GO:0016508	long-chain-enoyl-CoA hydratase activity	IDA	molecular function
GO:0016508	long-chain-enoyl-CoA hydratase activity	TAS	molecular function
GO:0016508	long-chain-enoyl-CoA hydratase activity	TAS	molecular function
GO:0016508	long-chain-enoyl-CoA hydratase activity	TAS	molecular function
GO:0016508	long-chain-enoyl-CoA hydratase activity	TAS	molecular function
GO:0033540	fatty acid beta-oxidation using acyl-CoA oxidase	TAS	biological process
GO:0033540	fatty acid beta-oxidation using acyl-CoA oxidase	TAS	biological process
GO:0033989	3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity	TAS	molecular function
GO:0033989	3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity	TAS	molecular function
GO:0036109	alpha-linolenic acid metabolic process	TAS	biological process
GO:0036111	very long-chain fatty-acyl-CoA metabolic process	IDA	biological process
GO:0036112	medium-chain fatty-acyl-CoA metabolic process	IDA	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0044594	17-beta-hydroxysteroid dehydrogenase (NAD+) activity	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01212	Fatty acid metabolism
hsa04146	Peroxisome

Diseases

Associated diseases	References
Cancer (bladder)	GAD: 19692168
Cancer (esophageal)	GAD: 20453000
Cancer (lung)	GAD: 18676680
Cancer (ovarian)	GAD: 18086758
Cancer (prostate)	GAD: 19574343
Cancer (testicular)	GAD: 19776291
Cancer (testicular germ cell)	MIK: 19776291
Cancer	GAD: 19627379
Cancer (breast)	GAD: 20214802
Obesity	GAD: 20734064
Bone diseases	GAD: 19453261
Autism	GAD: 19598235
Ovarian dysgenesis	INFBASE: 20673864
Premature ovarian failure (POF)	INFBASE: 22265031
Azoospermia	MIK: 24602372
Male factor infertility	MIK: 24602372
Perrault syndrome	OMIM: 601860
Chronic obstructive pulmonary disease (COPD)	GAD: 19625176
Peroxisomal beta-oxidation enzyme deficiency	KEGG: H00407
Azoospermia	MIK: 24602372
Male infertility	MIK: 24602372
Testicular germ cell tumor	MIK: 19776291

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
19776291	Testicular germ cell tumor	ESR1(rs2234693, rs3798577, rs9340799), ESR2(rs1256030), CYP1A1(rs1048943), CYP1A2(rs2472304), CYP1B1(rs162555, rs2855658), CYP19A1(rs700519), HSD17B1 (rs605059), HSD17B4(rs25640, rs11205, rs28943594), COMT(rs4680), SULT1A1(rs1042157), SULT1E1(rs3736599)		452 (234 TGCT cases and 218 controls)	Male infertility	ESR1 ESR2 CYP1A1 CYP1A2 CYP1B1 CYP19A1 HSD17B1 HSD17B4 COMT SULT1A1 SULT1E1
24602372	Azoospermia, male infertility			1 adult male presented with cerebellar ataxia, peripheral neuropathy, hearing loss, and azoospermia	Male infertility