Property Summary

NCBI Gene PubMed Count 72
PubMed Score 152.18
PubTator Score 79.77

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
Waldenstrons macroglobulinemia 1.930 7.6e-04
tuberculosis 1.500 1.2e-03
pancreatic ductal adenocarcinoma liver m... -1.895 1.2e-02
lung cancer -1.100 6.5e-04
Polycystic Ovary Syndrome 1.022 3.6e-02
ovarian cancer 2.600 3.3e-06
dermatomyositis 1.200 3.1e-04

Protein-protein Interaction (4)

Gene RIF (35)

PMID Text
25448063 Results show that HSD17B4 is highly expressed in hepatocellular carcinoma (HCC) cells and activated NF-kappaB co-localized with the NF-kappaB-responsive element of HSD17B4 suggesting that HSD17B4 plays an important role in aggravated HCC progression.
23874603 Tandem affinity purification and mass spectrometry analysis identify hydroxysteroid (17-beta) dehydrogenase 4 (HSD17B4), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells
23313254 Molecular models of domain structure of MFE-2 from human, C. elegans, and Drosophila melanogaster lend support to possible structural role of MFE-2 domains including SCP-2L (sterol carrier protein 2-like) domain in human and C. elegans proteins.
23308274 Structural MFE-2 instability is the molecular basis of D-bifunctional protein deficiency type III.
23181892 Specific combination of compound heterozygous mutations in 17beta-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.
23125841 Tandem affinity purification and mass spectrometry analysis identify hydroxysteroid (17-beta) dehydrogenase 4 (HSD17B4), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells
22265031 Epistasis between the HSD17B4 and thyroglobulin polymorphisms is associated with premature ovarian failure. A haplotype in the HSD17B4 gene was identified that was significantly associated with resistance to POF
20949532 The diagnosis of a type III DBPD with a missense mutation (T15A) in the HSD17B4 gene, coding for D-bifunctional protein (DBP), could be established.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20734064 Observational study of gene-disease association. (HuGE Navigator)
20673864 Perrault syndrome and DBP deficiency overlap clinically and Perrault syndrome is genetically heterogeneous.
20634197 Meta-analysis of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20566640 MFE2 anchors its substrate around the region from Trp(249) to Arg(251) and positions the substrate along the hydrophobic cavity in the proper direction toward the catalytic center
20453000 Observational study of gene-disease association. (HuGE Navigator)
20214802 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19776291 rs11205 in HSD17B4 was associated with testicular germ cell tumor. Risk doubled per copy of the minor A allele. Homozygosity of this allele quadrupled the risk vs. homozygous major G allele. The risk was increased both for seminoma & nonseminoma.
19776291 Observational study of gene-disease association. (HuGE Navigator)
19692168 Observational study of gene-disease association. (HuGE Navigator)
19627379 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19625176 Observational study of gene-disease association. (HuGE Navigator)
19598235 Observational study of gene-disease association. (HuGE Navigator)
19574343 Observational study of gene-disease association. (HuGE Navigator)
19453261 Observational study of gene-disease association. (HuGE Navigator)
19170196 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19100308 HSD17B4 is not only associated with the presence of prostate cancer, but is also a significant independent predictor of poor patient outcome.
18794456 HSD17B4 mRNA is expressed in human skin, at similar levels in men and women. HSD17B4 levels are not altered by topical 17-beta-estradiol treatment.
18676680 Observational study of gene-disease association. (HuGE Navigator)
18415690 Observational study of gene-disease association. (HuGE Navigator)
18281655 Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18281655 Observational study of gene-disease association. (HuGE Navigator)
18086758 Observational study of gene-disease association. (HuGE Navigator)
16766224 Deficiency of this enzyme in man causes a severe developmental syndrome with abnormalities in several organs but in particular in the brain, leading to death within the first year of life.
15644212 crystal structure of 2-enoyl-CoA hydratase 2

AA Sequence

MGSPLRFDGRVVLVTGAGAGLGRAYALAFAERGALVVVNDLGGDFKGVGKGSLAADKVVEEIRRRGGKAV      1 - 70
ANYDSVEEGEKVVKTALDAFGRIDVVVNNAGILRDRSFARISDEDWDIIHRVHLRGSFQVTRAAWEHMKK     71 - 140
QKYGRIIMTSSASGIYGNFGQANYSAAKLGLLGLANSLAIEGRKSNIHCNTIAPNAGSRMTQTVMPEDLV    141 - 210
EALKPEYVAPLVLWLCHESCEENGGLFEVGAGWIGKLRWERTLGAIVRQKNHPMTPEAVKANWKKICDFE    211 - 280
NASKPQSIQESTGSIIEVLSKIDSEGGVSANHTSRATSTATSGFAGAIGQKLPPFSYAYTELEAIMYALG    281 - 350
VGASIKDPKDLKFIYEGSSDFSCLPTFGVIIGQKSMMGGGLAEIPGLSINFAKVLHGEQYLELYKPLPRA    351 - 420
GKLKCEAVVADVLDKGSGVVIIMDVYSYSEKELICHNQFSLFLVGSGGFGGKRTSDKVKVAVAIPNRPPD    421 - 490
AVLTDTTSLNQAALYRLSGDWNPLHIDPNFASLAGFDKPILHGLCTFGFSARRVLQQFADNDVSRFKAIK    491 - 560
ARFAKPVYPGQTLQTEMWKEGNRIHFQTKVQETGDIVISNAYVDLAPTSGTSAKTPSEGGKLQSTFVFEE    561 - 630
IGRRLKDIGPEVVKKVNAVFEWHITKGGNIGAKWTIDLKSGSGKVYQGPAKGAADTTIILSDEDFMEVVL    631 - 700
GKLDPQKAFFSGRLKARGNIMLSQKLQMILKDYAKL                                      701 - 736
//

Text Mined References (80)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
25956234 2015 Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25448063 2015 NF-?B increased expression of 17?-hydroxysteroid dehydrogenase 4 promotes HepG2 proliferation via inactivating estradiol.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23313254 2013 Quaternary structure of human, Drosophila melanogaster and Caenorhabditis elegans MFE-2 in solution from synchrotron small-angle X-ray scattering.
23308274 2013 On the molecular basis of D-bifunctional protein deficiency type III.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23181892 2012 Specific combination of compound heterozygous mutations in 17?-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.
22265031 2012 Epistasis between the HSD17B4 and TG polymorphisms is associated with premature ovarian failure.
21525035 2011 PEX14 is required for microtubule-based peroxisome motility in human cells.
21269460 2011 Initial characterization of the human central proteome.
20949532 2010 Typical cMRI pattern as diagnostic clue for D-bifunctional protein deficiency without apparent biochemical abnormalities in plasma.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20734064 2010 A large-scale candidate gene association study of age at menarche and age at natural menopause.
20673864 2010 Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.
20634197 2010 Comprehensive analysis of common genetic variation in 61 genes related to steroid hormone and insulin-like growth factor-I metabolism and breast cancer risk in the NCI breast and prostate cancer cohort consortium.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20566640 2010 Identification of a substrate-binding site in a peroxisomal beta-oxidation enzyme by photoaffinity labeling with a novel palmitoyl derivative.
20453000 2010 A Large-scale genetic association study of esophageal adenocarcinoma risk.
20214802 2010 Genetic variation in the estrogen metabolic pathway and mammographic density as an intermediate phenotype of breast cancer.
20178365 2010 A proteome-wide perspective on peroxisome targeting signal 1(PTS1)-Pex5p affinities.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19776291 2010 Association of testicular germ cell tumor with polymorphisms in estrogen receptor and steroid metabolism genes.
19692168 2010 Genetic susceptibility to distinct bladder cancer subphenotypes.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19627379 2010 Effect modification of endocrine disruptors and testicular germ cell tumour risk by hormone-metabolizing genes.
19625176 2009 PTEN identified as important risk factor of chronic obstructive pulmonary disease.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19598235 2009 Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome.
19574343 2009 Quantitative trait loci predicting circulating sex steroid hormones in men from the NCI-Breast and Prostate Cancer Cohort Consortium (BPC3).
19453261 2009 High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.
19369195 2009 Large-scale proteomics analysis of the human kinome.
19170196 2009 Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
19100308 2009 HSD17B4 overexpression, an independent biomarker of poor patient outcome in prostate cancer.
19027726 2009 The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative.
18794456 2008 Induction of collagen by estradiol: difference between sun-protected and photodamaged human skin in vivo.
18676680 2008 Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.
18415690 2008 Genetic variation in hormone metabolizing genes and risk of testicular germ cell tumors.
18281655 2008 Inherited variation in the androgen pathway is associated with the efficacy of androgen-deprivation therapy in men with prostate cancer.
18086758 2007 Association between single-nucleotide polymorphisms in hormone metabolism and DNA repair genes and epithelial ovarian cancer: results from two Australian studies and an additional validation set.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17220478 2007 Proteomics analysis of the interactome of N-myc downstream regulated gene 1 and its interactions with the androgen response program in prostate cancer cells.
16766224 2006 Peroxisomal multifunctional protein-2: the enzyme, the patients and the knockout mouse model.
16756494 2006 Biochemistry of mammalian peroxisomes revisited.
16385454 2006 Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16210410 2005 Differential expression profiling of membrane proteins by quantitative proteomics in a human mesenchymal stem cell line undergoing osteoblast differentiation.
15644212 2005 Crystal structure of 2-enoyl-CoA hydratase 2 from human peroxisomal multifunctional enzyme type 2.
15635413 2005 Nucleolar proteome dynamics.
15599942 2005 Peroxisomal branched chain fatty acid beta-oxidation pathway is upregulated in prostate cancer.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15372022 2004 The DNA sequence and comparative analysis of human chromosome 5.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11992265 2002 Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional protein.
11964182 2002 The role of alpha-methylacyl-CoA racemase in bile acid synthesis.
11743515 2001 D-bifunctional protein deficiency with fetal ascites, polyhydramnios, and contractures of hands and toes.
11700068 2001 Crystal structure of the liganded SCP-2-like domain of human peroxisomal multifunctional enzyme type 2 at 1.75 A resolution.
10671535 2000 Human peroxisomal multifunctional enzyme type 2. Site-directed mutagenesis studies show the importance of two protic residues for 2-enoyl-CoA hydratase 2 activity.
10419023 Characterization of the HSD17B4 gene: D-specific multifunctional protein 2/17beta-hydroxysteroid dehydrogenase IV.
10402265 1999 A novel peroxisomal enzyme, D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein: its expression in the developing human brain.
10400999 1999 Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency.
10343282 1999 Unique multifunctional HSD17B4 gene product: 17beta-hydroxysteroid dehydrogenase 4 and D-3-hydroxyacyl-coenzyme A dehydrogenase/hydratase involved in Zellweger syndrome.
10199776 1999 17Beta-hydroxysteroid dehydrogenase type 1, 2, 3, and 4 expression and enzyme activity in human anterior pituitary adenomas.
9915948 1999 Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis.
9880674 1998 Structure of the gene for the human 17beta-hydroxysteroid dehydrogenase type IV.
9783542 1998 17Beta-hydroxysteroid dehydrogenases in human bone cells.
9482850 1998 Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency.
9345094 1997 D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorder.
9197465 1997 The human peroxisomal multifunctional protein involved in bile acid synthesis: activity measurement, deficiency in Zellweger syndrome and chromosome mapping.
9133619 1997 Physiological role of D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein.
9089413 1997 Structure of D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein.
8938456 1996 Assignment of human 17 beta-hydroxysteroid dehydrogenase IV to chromosome 5q2 by fluorescence in situ hybridization.
8902629 1996 Purification and properties of human D-3-hydroxyacyl-CoA dehydratase: medium-chain enoyl-CoA hydratase is D-3-hydroxyacyl-CoA dehydratase.
8547189 1995 The subcellular localization of 17 beta-hydroxysteroid dehydrogenase type 4 and its interaction with actin.
8279468 1994 Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme protein: identification by means of complementation analysis.
7487879 1995 Molecular cloning of a novel widely expressed human 80 kDa 17 beta-hydroxysteroid dehydrogenase IV.
2921319 1989 Peroxisomal bifunctional enzyme deficiency.
2303409 1990 Peroxisomal bifunctional protein from rat liver is a trifunctional enzyme possessing 2-enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase, and delta 3, delta 2-enoyl-CoA isomerase activities.