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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HSD17B4 Gene

protein-coding   GIFtS: 68
GCID: GC05P118816

Hydroxysteroid (17-Beta) Dehydrogenase 4

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Hydroxysteroid (17-Beta) Dehydrogenase 41 2     12-Alpha-Trihydroxy-5-Beta-Cholest-24-Enoyl-CoA Hydratase1
17-Beta-Hydroxysteroid Dehydrogenase 41 2 3     3-alpha1
D-Bifunctional Protein1 3     7-alpha1
17-Beta-HSD IV1 2     Member 11
17beta-Estradiol Dehydrogenase Type IV1 2     peroxisomal1
Beta-Hydroxyacyl Dehydrogenase1 2     Short Chain Dehydrogenase/Reductase Family 8C1
beta-keto-reductase1 2     3-Alpha,7-Alpha,12-Alpha-Trihydroxy-5-Beta-Cholest-24-Enoyl-CoA Hydratase2
D-3-Hydroxyacyl-CoA Dehydratase1 2     PRLTS12
Peroxisomal Multifunctional Protein 21 2     SDR8C12
Multifunctional Protein 22 3     D-Bifunctional Protein, Peroxisomal2
17-Beta-HSD 42 3     Peroxisomal Multifunctional Enzyme Type 22
DBP2 3     Short Chain Dehydrogenase/Reductase Family 8C, Member 12
MFE-22 3     EDH17B43
MPF-22 3     

External Ids:    HGNC: 52131   Entrez Gene: 32952   Ensembl: ENSG000001338357   OMIM: 6018605   UniProtKB: P516593   

Export aliases for HSD17B4 gene to outside databases

Previous GC identifers: GC05P118490 GC05P119186 GC05P118819 GC05P118864 GC05P113983


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HSD17B4 Gene:
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-branched-chain fatty acids. Defects in this gene that affect the peroxisomal fatty
acid beta-oxidation activity are a cause of D-bifunctional protein deficiency (DBPD). An apparent pseudogene of
this gene is present on chromosome 8. (provided by RefSeq, Jul 2008)

GeneCards Summary for HSD17B4 Gene: 
HSD17B4 (hydroxysteroid (17-beta) dehydrogenase 4) is a protein-coding gene. Diseases associated with HSD17B4 include d-bifunctional protein deficiency, and gonadal dysgenesis, xx type, and among its related super-pathways are Synthesis of bile acids and bile salts and Metabolic pathways. GO annotations related to this gene include protein homodimerization activity and receptor binding. An important paralog of this gene is SCP2.

UniProtKB/Swiss-Prot: DHB4_HUMAN, P51659
Function: Bifunctional enzyme acting on the peroxisomal beta-oxidation pathway for fatty acids. Catalyzes the
formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids

Gene Wiki entry for HSD17B4 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_034772.6  NC_018916.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HSD17B4 gene promoter:
         AP-2rep   ER-alpha   STAT1   p53   Pax-2   Pax-2a   PPAR-gamma1   PPAR-gamma2   TGIF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): HSD17B4 promoter sequence
   Search SABiosciences Chromatin IP Primers for HSD17B4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HSD17B4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q21   Ensembl cytogenetic band:  5q23.1   HGNC cytogenetic band: 5q2

HSD17B4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HSD17B4 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P118816:  view genomic region     (about GC identifiers)

Start:
118,788,138 bp from pter      End:
118,972,894 bp from pter
Size:
184,757 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DHB4_HUMAN, P51659 (See protein sequence)
Recommended Name: Peroxisomal multifunctional enzyme type 2  
Size: 736 amino acids; 79686 Da
Subunit: Homodimer
Subcellular location: Peroxisome
Miscellaneous: The protein is found both as a full length peptide and in a cleaved version
3 PDB 3D structures from and Proteopedia for HSD17B4:
1IKT (3D)        1S9C (3D)        1ZBQ (3D)    
Secondary accessions: B4DNV1 B4DVS5 E9PB82 F5HE57
Alternative splicing: 3 isoforms:  P51659-1   P51659-2   P51659-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HSD17B4: NX_P51659

Explore proteomics data for HSD17B4 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P51659

  • HSD17B4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HSD17B4 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_000405.1  NP_001186220.1  NP_001186221.1  

    ENSEMBL proteins: 
     ENSP00000256216   ENSP00000424613   ENSP00000390208   ENSP00000424940   ENSP00000420914  
     ENSP00000411960   ENSP00000425993   ENSP00000426272  
    Reactome Protein details: P51659
    Human Recombinant Protein Products for HSD17B4: 
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005777peroxisome NAS7487879
    GO:0005778peroxisomal membrane IDA--
    GO:0005782peroxisomal matrix TAS--
    GO:0043231intracellular membrane-bounded organelle IDA--

    HSD17B4 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SDRC3: Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3

    5/6 InterPro protein domains (see all 6):
     IPR020904 Sc_DH/Rdtase_CS
     IPR002539 MaoC_dom
     IPR002347 Glc/ribitol_DH
     IPR002198 DH_sc/Rdtase_SDR
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry P51659

    ProtoNet protein and cluster: P51659

    4 Blocks protein domains:
    IPB002198 Short-chain dehydrogenase/reductase SDR
    IPB002347 Glucose/ribitol dehydrogenase family signature
    IPB002539 MaoC-like dehydratase
    IPB003033 Sterol-binding


    UniProtKB/Swiss-Prot: DHB4_HUMAN, P51659
    Similarity: Belongs to the short-chain dehydrogenases/reductases (SDR) family
    Similarity: Contains 1 MaoC-like domain
    Similarity: Contains 1 SCP2 domain


    HSD17B4 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DHB4_HUMAN, P51659
    Function: Bifunctional enzyme acting on the peroxisomal beta-oxidation pathway for fatty acids. Catalyzes the
    formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids
    Catalytic activity: (R)-3-hydroxyacyl-CoA + NAD(+) = 3-oxoacyl-CoA + NADH
    Catalytic activity: (24R,25R)-3-alpha,7-alpha,12-alpha,24-tetrahydroxy-5-beta-cholestanoyl-CoA =
    (24E)-3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA + H(2)O
    Catalytic activity: (3R)-3-hydroxyacyl-CoA = (2E)-2-enoyl-CoA + H(2)O
    Biophysicochemical properties: Kinetic parameters: KM=10 uM for D-3-hydroxy-octanoyl-CoA; KM=13 uM for NAD; KM=2.7
    uM for 3-ketooctanoyl-CoA; KM=5.4 uM for NADH; Vmax=8.8 umol/min/mg enzyme;

         Genatlas biochemistry entry for HSD17B4:
    17 beta-hydroxysteroid dehydrogenase type 4,widely expressed,mainly in liver,heart,testis,prostate,multifunctional
    enzyme localized in the peroxisome,involved in steroid inactivation,stimulated by progesterone,also displaying an
    intrinsic fatty acid CoA hydratase and sterol transfer activities,playing an essential role in the formation of
    active intracellular sex steroids

         Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00038573-hydroxyacyl-CoA dehydrogenase activity TAS--
    GO:0005102receptor binding IPI--
    GO:0016491oxidoreductase activity ----
    GO:0016508long-chain-enoyl-CoA hydratase activity TAS--
    GO:0016853isomerase activity IEA--
         
    HSD17B4 for ontologies           About GeneDecksing


    Phenotypes:
         12 MGI mutant phenotypes (inferred from 1 allele(MGI details for Hsd17b4):
     behavior/neurological  cellular  digestive/alimentary  endocrine/exocrine gland  growth/size 
     homeostasis/metabolism  liver/biliary system  mortality/aging  muscle  nervous system 
     reproductive system  vision/eye 

    HSD17B4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Hsd17b4tm1Baes for HSD17B4

       inGenious Targeting Laboratory - Custom generated mouse model solutions for HSD17B4 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HSD17B4 
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    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidHSD17B4 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for HSD17B4 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Synthesis of bile acids and bile salts
    Synthesis of bile acids and bile salts0.87
    Primary bile acid biosynthesis0.74
    Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol0.87
    bile acid biosynthesis, neutral pathway0.50
    Bile acid and bile salt metabolism0.74
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    3alpha-linolenic (omega3) and linoleic (omega6) acid metabolism
    alpha-linolenic (omega3) and linoleic (omega6) acid metabolism0.55
    Beta-oxidation of very long chain fatty acids0.42
    alpha-linolenic acid (ALA) metabolism0.55
    4Peroxisomal lipid metabolism
    Peroxisomal lipid metabolism0.38
    Beta-oxidation of pristanoyl-CoA0.38
    5fatty acid activation
    fatty acid beta-oxidation VI (peroxisome)0.46

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for HSD17B4
        bile acid biosynthesis, neutral pathway
    fatty acid beta-oxidation VI (peroxisome)
    Prostate Cancer
    Steroid Biosynthesis


    5/10        Reactome Pathways for HSD17B4 (see all 10)
        Beta-oxidation of pristanoyl-CoA
    Beta-oxidation of very long chain fatty acids
    Bile acid and bile salt metabolism
    Metabolism
    Peroxisomal lipid metabolism


    3         Kegg Pathways  (Kegg details for HSD17B4):
        Primary bile acid biosynthesis
    Metabolic pathways
    Peroxisome

    UniProtKB/Swiss-Prot: DHB4_HUMAN, P51659
    Pathway: Lipid metabolism; fatty acid beta-oxidation


    HSD17B4 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HSD17B4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    5/50 Interacting proteins for HSD17B4 (P516592, 3 ENSP000002562164) via UniProtKB, MINT, STRING, and/or I2D (see all 50)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    RELBQ012012, 3MINT-48994 I2D: score=2 
    UBA5Q9GZZ93, ENSP000003485654I2D: score=3 STRING: ENSP00000348565
    ACTBP607093, ENSP000003499604I2D: score=2 STRING: ENSP00000349960
    ACAA1P091103, ENSP000003336644I2D: score=1 STRING: ENSP00000333664
    GSK3BP498413, ENSP000003248064I2D: score=1 STRING: ENSP00000324806
    About this table

    Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000038very long-chain fatty acid metabolic process IEA--
    GO:0006635fatty acid beta-oxidation IDA10400999
    GO:0006699bile acid biosynthetic process TAS--
    GO:0008152metabolic process ----
    GO:0008206bile acid metabolic process TAS--

    HSD17B4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    HSD17B4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HSD17B4 (DHB4)

    10/30 HMDB Compounds for HSD17B4 (see all 30)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (3S)-3-Hydroxyadipyl-CoA(3S)-3-Hydroxyadipyl-CoEnzyme A ----
    (S)-3-Hydroxydodecanoyl-CoA(S)-3-hydroxydodecanoyl-coenzyme A 72059-49-5--
    (S)-3-Hydroxyhexadecanoyl-CoA(S)-3-hydroxyhexadecanoyl-coenzyme A (see all 14)35106-50-4--
    (S)-3-Hydroxytetradecanoyl-CoA(S)-3-Hydroxytetradecanoyl-Coenzyme A. (see all 2)----
    (S)-3-hydroxypalmitoleoyl-CoA(S)-3-hydroxyhexadeca-9Z-enoyl-CoA (see all 4)----
    (S)-Hydroxydecanoyl-CoAS-(3-hydroxydecanoate) Coenzyme A (see all 16)6245-70-1--
    (S)-Hydroxyhexanoyl-CoA[R,S]-Lactyl CoA (see all 8)74875-70-0--
    (S)-Hydroxyoctanoyl-CoA(S)-3-Hydroxyoctanoyl-CoA (see all 2)79171-48-5--
    (S)-Methylmalonic acid semialdehyde(S)-Methylmalonate semialdehyde (see all 3)99043-16-0--
    16,18-Oxo-18-CoA-dinor-LTE4CoA-18-COOH-16-oxo-dinor-LTE(,4) (see all 2)----

    3 DrugBank Compounds for HSD17B4    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    3r-Hydroxydecanoyl-Coa-- --target--17139284 17016423 10592235
    NADHbeta-DPNH (see all 18)606-68-8target--12517343 17139284 17016423
    Nicotinamide-Adenine-Dinucleotide-- 53-84-9target--17139284 17016423

    9 Novoseek inferred chemical compound relationships for HSD17B4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    17beta-hydroxysteroid 75.5 9 12225901 (2), 8547182 (2), 19722192 (2), 10343282 (1) (see all 5)
    acyl-coa 70 9 11356171 (2), 11992265 (1), 11734571 (1), 15060085 (1) (see all 5)
    sterol 66.8 7 16385454 (1), 11734571 (1), 15060085 (1)
    cholic acid 55.9 1 11374894 (1)
    clofibrate 53.3 1 10343282 (1)
    fatty acid 49.8 2 11356171 (1), 16385454 (1)
    estrone 38.7 2 10343282 (1)
    estradiol 7.07 2 10343282 (1)
    progesterone 0.295 2 10343282 (1), 16397211 (1)

    Search CenterWatch for drugs/clinical trials and news about HSD17B4 / DHB4

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for HSD17B4 gene (3 alternative transcripts): 
    NM_000414.3  NM_001199291.1  NM_001199292.1  

    Unigene Cluster for HSD17B4:

    Hydroxysteroid (17-beta) dehydrogenase 4
    Hs.406861  [show with all ESTs]
    Unigene Representative Sequence: AL713635
    18/27 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 27):
    ENST00000256216(uc003ksj.3 uc011cwh.2 uc011cwg.2) ENST00000511186
    ENST00000515320 ENST00000442060 ENST00000515235 ENST00000510025 ENST00000519184
    ENST00000504811(uc011cwi.2 uc003ksk.4) ENST00000512841 ENST00000414835
    ENST00000508750 ENST00000503168 ENST00000507695 ENST00000505181 ENST00000513628
    ENST00000508788 ENST00000509514(uc011cwj.2 uc010jcn.2) ENST00000512644

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    Additional mRNA sequence: 

    AK094049.1 AK293254.1 AK295440.1 AK298075.1 AK301212.1 AK308968.1 AK312449.1 AL713635.1 
    BC003098.1 X87176.1 

    24/28 DOTS entries (see all 28):

    DT.452525  DT.101959879  DT.100879235  DT.120840910  DT.40132970  DT.120840905  DT.120840932  DT.120840872 
    DT.100879232  DT.40290448  DT.120840933  DT.120840923  DT.120840907  DT.120840856  DT.95244841  DT.100879229 
    DT.100879236  DT.100802424  DT.100879225  DT.100879239  DT.120649804  DT.120840894  DT.92447624  DT.95166967 

    24/385 AceView cDNA sequences (see all 385):

    CA942264 BU553515 BU684777 BM478842 AA356113 AI005015 CR596907 BQ224968 
    BG676897 AU099524 CA422922 BQ433160 BM015548 AU105854 CA866440 AA329731 
    AA488029 AV713626 CA417725 BU176291 H47505 AL040917 F06627 BU619275 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for HSD17B4 (see all 11)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b · 16c ^
    SP1:              -           -                                         -     -                       -                                                         
    SP2:              -           -           -     -                       -     -                       -                                                         
    SP3:                                                                                            -     -                                                         
    SP4:                                                                                                                                                            
    SP5:                                                                          -                       -                                                         

    ExUns: 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26 ^ 27a · 27b ^ 28a · 28b
    SP1:        -                                   -                       -           -                     
    SP2:                                                                                                      
    SP3:                                                                                                      
    SP4:        -           -                                                                                 
    SP5:                                                                                                      


    ECgene alternative splicing isoforms for HSD17B4

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HSD17B4 expression in normal human tissues (normalized intensities)      HSD17B4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATCATTATT
    HSD17B4 Expression
    About this image


    HSD17B4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/20 selected tissues (see all 20) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Thalamus
             brain/midbrain   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Lung (Respiratory System)    fully expand to see all 3 entries
             lung ; pneumocytes   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 2 entries
             rectum ; glandular cells   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon

    See HSD17B4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HSD17B4

    SOURCE GeneReport for Unigene cluster: Hs.406861

    UniProtKB/Swiss-Prot: DHB4_HUMAN, P51659
    Tissue specificity: Present in many tissues with highest concentrations in liver, heart, prostate and testis

        SABiosciences Custom PCR Arrays for HSD17B4
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSD17B4

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for HSD17B4 gene from 10/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hsd17b41 , 5 hydroxysteroid (17-beta) dehydrogenase 41, 5 84.76(n)1
    86.39(a)1
      18 (27.24 cM)5
    154881  NM_008292.41  NP_032318.21 
     501282015 
    chicken
    (Gallus gallus)
    Aves HSD17B41 hydroxysteroid (17-beta) dehydrogenase 4 72.81(n)
    72.03(a)
      395785  NM_204943.1  NP_990274.1 
    lizard
    (Anolis carolinensis)
    Reptilia HSD17B46
    Uncharacterized protein
    64(a)
    possible ortholog
    GL343193.1(10529507-10604609)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.259812 Xenopus laevis transcribed sequence with moderate similarity more 76.51(n)    BU904870.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc555452 similar to hydroxysteroid (17-beta) dehydrogenase 4 73.8(n)   393105  BC044422.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG34153
    Mfe21
    estradiol 17 beta-dehydrogenase3
    peroxisomal Multifunctional enzyme type 21
    51(a)3
    54.17(n)1
    55.21(a)1
      14B33
    325821  NM_132881.21  NP_573109.11 
    worm
    (Caenorhabditis elegans)
    Secernentea E04F6.33
    dhs-281
    Hydratase-dehydrogenase-epimerase3
    Protein DHS-281
    52(a)3
    55.25(n)1
    50.68(a)1
      II(7196271-7197324)3
    1809501  NM_076745.41  NP_509146.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes FOX2(YKR009C)4
    FOX21
    Multifunctional enzyme of the peroxisomal fatty acid more4
    Fox2p1
    49.97(n)1
    42.65(a)1
      11(457054-454352)4
    8538781, 4  NP_012934.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ECH21 enoyl-CoA hydratase 2 48.01(n)
    42.66(a)
      843947  NM_106264.3  NP_177742.2 
    rice
    (Oryza sativa)
    Liliopsida Os09g05449001 hypothetical protein 48.95(n)
    40.59(a)
      4347752  NM_001070368.1  NP_001063833.1 


    ENSEMBL Gene Tree for HSD17B4 (if available)
    TreeFam Gene Tree for HSD17B4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HSD17B4 gene
    SCP22  SCP2D12  
    4 SIMAP similar genes for HSD17B4 using alignment to 6 protein entries:     DHB4_HUMAN (see all proteins):
    SCP2D1    DHRS4L2    HSD17B8    BDH2

    HSD17B4 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for HSD17B4
    PGOHUM00000250039


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2157 SNPs in HSD17B4 are shown (see all 2157)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0659074
    Perrault syndrome 1 (PRLTS1)4--see VAR_0659072 Y C mis40--------
    VAR_0659084
    D-bifunctional protein deficiency (DBPD)4--see VAR_0659082 N Y mis40--------
    VAR_0375764
    D-bifunctional protein deficiency (DBPD)4--see VAR_0375762 G S mis40--------
    rs256401,2,4
    C,F,O,A,HD-bifunctional protein deficiency (DBPD)4 pathogenic1119091975(+) GGATCA/C/GTTCCT 6 P R mis143MN EA NA EU CSAM NS WA 11756
    rs1378530961,2
    Cpathogenic1119068757(+) TCACCG/AGCGCG 5 /S /G mis1 ut511Minor allele frequency- A:0.00EU 1323
    rs1378530971,2
    Cpathogenic1119125316(+) GCCACA/TATCAG 6 N Y mis11Minor allele frequency- T:0.00NA 4546
    VAR_0523134
    ----see VAR_0523132 A S mis40--------
    rs572521471,2
    C--113994600(+) TTTTT-/T/TTTT
    TTTTTTTTT
    AAGAA
    3 -- int11NA 2
    rs792953331,2
    --114022455(+) GAAAAA/TTTATC 3 -- int10--------
    rs342309521,2
    C--114028145(+) GGGGG-/G/GG  
            
    TGTGA
    3 -- int10--------

    HapMap Linkage Disequilibrium report for HSD17B4 (118788138 - 118972894 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for HSD17B4:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2486573CNV Deletion19546169
    nsv882777CNV Loss21882294
    nsv4974CNV Loss18451855
    nsv882776CNV Gain21882294


    Human Gene Mutation Database (HGMD): HSD17B4

    Locus Specific Mutation Databases (LSDB): HSD17B4
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing HSD17B4
    DNA2.0 Custom Variant and Variant Library Synthesis for HSD17B4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601860   
    OMIM disorders: 261515  
    UniProtKB/Swiss-Prot: DHB4_HUMAN, P51659
  • D-bifunctional protein deficiency (DBPD) [MIM:261515]: Disorder of peroxisomal fatty acid beta-oxidation.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Perrault syndrome 1 (PRLTS1) [MIM:233400]: A sex-influenced disorder characterized by sensorineural
    deafness in both males and females and ovarian dysgenesis in females. Some patients also have neurologic
    manifestations, including mild mental retardation and cerebellar and peripheral nervous system involvement.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/32 diseases for HSD17B4 (see all 32):    About MalaCards
    d-bifunctional protein deficiency    gonadal dysgenesis, xx type    protein s deficiency    rhizomelic chondrodysplasia punctata type 1
    thiolase deficiency    rhizomelic chondrodysplasia punctata    fatty acid oxidation disorders    peroxisomal disease
    peroxisome disorders    peroxisome biogenesis disorders    infantile refsum disease    refsum disease
    polyhydramnios    chondrodysplasia    zellweger syndrome    adrenoleukodystrophy
    premature ovarian failure    germ cell tumors    pituitary adenoma    esophageal adenocarcinoma

    4 diseases from the University of Copenhagen DISEASES database for HSD17B4:
    Zellweger syndrome     Adrenoleukodystrophy     Rhizomelic chondrodysplasia punctata     Infantile refsum disease

    HSD17B4 for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for HSD17B4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    d-bifunctional protein deficiency 98.4 18 16385454 (5), 19933185 (1), 9831634 (1), 11734571 (1) (see all 6)
    rhizomelic chondrodysplasia punctata, type 1 91.4 5 11734571 (1), 15060085 (1)
    peroxisomal disorders 82.8 4 11330053 (1), 12948743 (1), 16449325 (1)
    peroxisome biogenesis disorders 80.7 1 12948743 (1)
    zellweger syndrome 80 5 16449325 (2), 10343282 (1), 19933185 (1), 18793625 (1)
    adrenoleukodystrophy 69.7 7 11356171 (1), 11734571 (1), 15060085 (1)

    Genetic Association Database (GAD): HSD17B4
    Human Genome Epidemiology (HuGE) Navigator: HSD17B4 (22 documents)

    Export disorders for HSD17B4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for HSD17B4 gene, integrated from 9 sources (see all 122):
    (articles sorted by number of sources associating them with HSD17B4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Crystal structure of 2-enoyl-CoA hydratase 2 from human peroxisomal multifunctional enzyme type 2. (PubMed id 15644212)1, 2, 9 Koski K.M.... Glumoff T. (2005)
    2. Purification and properties of human D-3-hydroxyacyl-CoA dehydratase: medium-chain enoyl-CoA hydratase is D-3-hydroxyacyl-CoA dehydratase. (PubMed id 8902629)1, 2, 9 Jiang L.L.... Hashimoto T. (1996)
    3. Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency. (PubMed id 9482850)1, 2, 9 van Grunsven E.G....Wanders R.J.A. (1998)
    4. Comprehensive analysis of common genetic variation in 61 genes related to steroid hormone and insulin-like growth factor-I metabolis m and breast cancer risk in the NCI breast and prostate cancer cohort consortiu m. (PubMed id 20634197)1, 4 Canzian F....Feigelson H.S. (2010)
    5. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (2010)
    6. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    7. Association of testicular germ cell tumor with polymo rphisms in estrogen receptor and steroid metabolism genes. (PubMed id 19776291)1, 4 Ferlin A....Foresta C. (2010)
    8. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)1, 4 He C....Hunter D.J. (2010)
    9. Genetic susceptibility to distinct bladder cancer sub phenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (2010)
    10. Genetic variation in the estrogen metabolic pathway a nd mammographic density as an intermediate phenotype of breast cancer. (PubMed id 20214802)1, 4 Li J....Hall P. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3295 HGNC: 5213 AceView: HSD17B4 Ensembl:ENSG00000133835 euGenes: HUgn3295
    ECgene: HSD17B4 Kegg: 3295 H-InvDB: HSD17B4

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HSD17B4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HSD17B4

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HSD17B4 gene:
    Search GeneIP for patents involving HSD17B4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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