HSD17B4 Gene
protein-coding GIFtS: 66
GCID: GC05P118816
|
|
hydroxysteroid (17-beta) dehydrogenase 4
| |
Aliases
for HSD17B4 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Hydroxysteroid (17-Beta) Dehydrogenase 41 2 | | PRLTS12 | | DBP1 2 3 | | Beta-Hydroxyacyl Dehydrogenase2 | | MFE-21 2 3 | | Beta-Keto-Reductase1 | | SDR8C11 2 | | D-3-Hydroxyacyl-CoA Dehydratase2 | | Multifunctional Protein 22 3 | | D-Bifunctional Protein, Peroxisomal2 | | 17-Beta-HSD 42 3 | | Peroxisomal Multifunctional Enzyme Type 22 | | 17-Beta-Hydroxysteroid Dehydrogenase 42 3 | | Peroxisomal Multifunctional Protein 22 | | MPF-22 3 | | Short Chain Dehydrogenase/Reductase Family 8C, Member 12 | | 17-Beta-HSD IV2 | | EDH17B43 | | 17beta-Estradiol Dehydrogenase Type IV2 | | D-Bifunctional Protein3 | | 3-Alpha,7-Alpha,12-Alpha-Trihydroxy-5-Beta-Cholest-24-Enoyl-CoA Hydratase2 | | |
Export aliases for HSD17B4 gene to outside databasesPrevious GC identifers: GC05P118490 GC05P119186 GC05P118819 GC05P118864 GC05P113983 |
Summaries
for HSD17B4 gene(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:
The protein encoded by this gene is a bifunctional enzyme that is involved in the peroxisomal beta-oxidation pathwayfor fatty acids. It also acts as a catalyst for the formation of 3-ketoacyl-CoA intermediates from both straight-chainand 2-methyl-branched-chain fatty acids. Defects in this gene that affect the peroxisomal fatty acid beta-oxidationactivity are a cause of D-bifunctional protein deficiency (DBPD). An apparent pseudogene of this gene is present onchromosome 8. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: DHB4_HUMAN, P51659Function: Bifunctional enzyme acting on the peroxisomal beta-oxidation pathway for fatty acids. Catalyzes the formationof 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids
Gene Wiki entry for HSD17B4
|
Genomic Views
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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000005.9 NC_018916.1 NT_034772.6
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
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: 5q2HSD17B4 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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:
|
118,878,028 bp from pter |
Size:
|
89,891 bases |
Orientation:
|
plus strand |
|
Proteins
for HSD17B4 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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 F5HE57Alternative 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
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P51659
HSD17B4 Protein expression data from MOPED and PaxDb: About this image 
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:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
HSD17B4 for ontologies About GeneDecksing
HSD17B4 Antibody Products:
Assay Products for HSD17B4: |
Protein
Domains /
Families
for HSD17B4 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
HSD17B4 for domains About GeneDecksing
5/6 InterPro domains/families (see all 6):Graphical View of Domain Structure for InterPro Entry P51659ProtoNet protein and cluster: P51659 4 Blocks protein families: IPB002198 Short-chain dehydrogenase/reductase SDR IPB002347 Glucose/ribitol dehydrogenase family signature IPB002539 MaoC-like dehydratase IPB003033 Sterol-binding
UniProtKB/Swiss-Prot: DHB4_HUMAN, P51659Similarity: Belongs to the short-chain dehydrogenases/reductases (SDR) familySimilarity: Contains 1 MaoC-like domainSimilarity: Contains 1 SCP2 domain |
Function
for HSD17B4 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
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,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: DHB4_HUMAN, P51659Function: Bifunctional enzyme acting on the peroxisomal beta-oxidation pathway for fatty acids. Catalyzes the formationof 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acidsCatalytic activity: (R)-3-hydroxyacyl-CoA + NAD(+) = 3-oxoacyl-CoA + NADHCatalytic 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)OCatalytic activity: (3R)-3-hydroxyacyl-CoA = (2E)-2-enoyl-CoA + H(2)OBiophysicochemical properties: Kinetic parameters: KM=10 uM for D-3-hydroxy-octanoyl-CoA; KM=13 uM for NAD; KM=2.7 uMfor 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,multifunctionalenzyme localized in the peroxisome,involved in steroid inactivation,stimulated by progesterone,also displaying anintrinsic fatty acid CoA hydratase and sterol transfer activities,playing an essential role in the formation of activeintracellular sex steroids
Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0000166 | nucleotide binding |
IEA | -- | | GO:0003857 | 3-hydroxyacyl-CoA dehydrogenase activity |
TAS | -- | | GO:0005102 | receptor binding |
IPI | -- | | GO:0016491 | oxidoreductase activity |
-- | -- | | GO:0016508 | long-chain-enoyl-CoA hydratase activity |
TAS | -- |
HSD17B4 for ontologies About GeneDecksing
Phenotypes:
12 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Hsd17b4):
HSD17B4 for phenotypes About GeneDecksing
Animal Models:
Mouse knock-out Hsd17b4tm1Baes for HSD17B4
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HSD17B4 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HSD17B4
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 3): HSD17B4 (NM_000414) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HSD17B4 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HSD17B4 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSD17B4 |
|
Pathways & Interactions
for HSD17B4 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Synthesis of bile acids and bile salts | | | 2 | alpha-linolenic (omega3) and linoleic (omega6) acid metabolism | | | 3 | Metabolism | | | 4 | Peroxisomal lipid metabolism | | | 5 | Peroxisome | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2  BioSystems Pathways for HSD17B4
5/10 
Reactome Pathways for HSD17B4 (see all 10)
3 
Kegg Pathways (Kegg details for HSD17B4):
UniProtKB/Swiss-Prot: DHB4_HUMAN, P51659Pathway: 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)
About this table
Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14): About this table
HSD17B4 for ontologies About GeneDecksing
|
Drugs & Compounds
for HSD17B4 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, 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 Tocris compounds for HSD17B4
10/30 HMDB Compounds for HSD17B4 (see all 30) About this table
3 DrugBank Compounds for HSD17B4 About this table
9 Novoseek 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
|
Transcripts
for HSD17B4 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
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: AL71363518/27 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
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HSD17B4 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HSD17B4
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 3): HSD17B4 (NM_000414) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HSD17B4 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HSD17B4 |
Additional cDNA 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): AU117308 BU947706 AA330013 CR592643 BU176291 CA417725 AV713626 AA329731 AA488029 CA866440 BM015548 AU105854 BQ433160 AU099524 CA422922 BG676897 CR596907 BQ224968 AI005015 BM478842 BU684777 AA356113 CA446808 CD518243
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
|
Expression
for HSD17B4 gene
(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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TATCATTATT
About this image
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, P51659Tissue specificity: Present in many tissues with highest concentrations in liver, heart, prostate and testis
SABiosciences Custom PCR Arrays for HSD17B4
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HSD17B4
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HSD17B4 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HSD17B4 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HSD17B4 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSD17B4 |
Orthologs
for HSD17B4 gene
(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 10/32 species (see all 32) 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 |
-- |
68(a) |
1 ↔ 1 |
GL343193.1(10529629-10602327) |
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
for HSD17B4 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for HSD17B4 gene
- SCP22 HSDL22 SCP2D12
6 SIMAP similar genes for HSD17B4 using alignment to 6 protein entries: DHB4_HUMAN (see all proteins):SCP2D1 SCP2 DHRS4L2 HSD17B8 BDH2 CBR4
HSD17B4 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for HSD17B4
PGOHUM00000250039
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Genomic Variants
for HSD17B4 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 5 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for HSD17B4 (118788138 - 118878028 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for HSD17B4
1 CNV: 99276
Human Gene Mutation Database (HGMD): HSD17B4
Locus Specific Mutation Databases (LSDB): HSD17B4
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HSD17B4 |
|
Disorders
/ Diseases
for HSD17B4 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
HSD17B4 for disorders About GeneDecksing
OMIM gene information: 601860
OMIM disorders: 261515
UniProtKB/Swiss-Prot: DHB4_HUMAN, P51659
Defects in HSD17B4 are a cause of D-bifunctional protein deficiency (DBPD) [MIM:261515]. DBPD is a disorder ofperoxisomal fatty acid beta-oxidation Defects in HSD17B4 are the cause of Perrault syndrome (PRLTS1) [MIM:233400]. A sex-influenced disordercharacterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Some patientsalso have neurologic manifestations, including mild mental retardation and cerebellar and peripheral nervous systeminvolvement
20/34  diseases for HSD17B4 (see all 34): About MalaCardsd-bifunctional protein deficiency rhizomelic chondrodysplasia punctata type 1 rhizomelic chondrodysplasia punctata peroxisomal biogenesis disorder
peroxisome biogenesis disorders chondrodysplasia punctata fatty acid oxidation disorders protein s deficiency
infantile refsum disease chondrodysplasia testicular germ cell tumor thiolase deficiency
germ cell tumor refsum disease zellweger syndrome adrenoleukodystrophy
ovarian dysgenesis hearing loss peroxisomal disease polyhydramnios
4 diseases from the University of Copenhagen DISEASES database for HSD17B4:Adrenoleukodystrophy Zellweger syndrome Rhizomelic chondrodysplasia punctata Infantile refsum disease 6 Novoseek 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) |
Human Genome Epidemiology (HuGE) Navigator: HSD17B4 (22 documents)
Export disorders for HSD17B4 gene to outside databases
|
Publications
for HSD17B4 gene (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 111):
(articles sorted by number of sources associating them with HSD17B4) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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)
- 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)
- 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)
- Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. (PubMed id 20673864)1, 2 Pierce S.B....King M.C. (2010)
- The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)1, 3 Persson B.... Oppermann U. (2009)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Crystal structure of the liganded SCP-2-like domain of human peroxisomal multifunctional enzyme type 2 at 1.75 A resolution. (PubMed id 11700068)1, 2 Haapalainen A.M.... Glumoff T. (2001)
- D-bifunctional protein deficiency with fetal ascites, polyhydramnios, and contractures of hands and toes. (PubMed id 11743515)1, 2 Nakano K....Suzuki Y. (2001)
- Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency. (PubMed id 10400999)1, 2 van Grunsven E.G....Wanders R.J. (1999)
|
External Searches for HSD17B4 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing HSD17B4 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing HSD17B4 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing HSD17B4 gene(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
|
| Name | Description |
| PharmGKB entry for HSD17B4 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HSD17B4 |
|
| | |
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
|
Products
for HSD17B4 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
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