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HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4)

Identity

Alias_nameshydroxysteroid (17-beta) dehydrogenase 4
Alias_symbol (synonym)MFE-2
DBP
SDR8C1
Other aliasMPF-2
PRLTS1
HGNC (Hugo) HSD17B4
LocusID (NCBI) 3295
Atlas_Id 50895
Location 5q23.1  [Link to chromosome band 5q23]
Location_base_pair Starts at 119452443 and ends at 119542335 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
HSD17B4 (5q23.1) / COPS3 (17p11.2)SLIT3 (5q34) / HSD17B4 (5q23.1)STX8 (17p13.1) / HSD17B4 (5q23.1)
SLIT3 5q34 / HSD17B4 5q23.1STX8 17p13.1 / HSD17B4 5q23.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)HSD17B4   5213
Cards
Entrez_Gene (NCBI)HSD17B4  3295  hydroxysteroid 17-beta dehydrogenase 4
AliasesDBP; MFE-2; MPF-2; PRLTS1; 
SDR8C1
GeneCards (Weizmann)HSD17B4
Ensembl hg19 (Hinxton)ENSG00000133835 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000133835 [Gene_View]  chr5:119452443-119542335 [Contig_View]  HSD17B4 [Vega]
ICGC DataPortalENSG00000133835
TCGA cBioPortalHSD17B4
AceView (NCBI)HSD17B4
Genatlas (Paris)HSD17B4
WikiGenes3295
SOURCE (Princeton)HSD17B4
Genetics Home Reference (NIH)HSD17B4
Genomic and cartography
GoldenPath hg38 (UCSC)HSD17B4  -     chr5:119452443-119542335 +  5q23.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HSD17B4  -     5q23.1   [Description]    (hg19-Feb_2009)
EnsemblHSD17B4 - 5q23.1 [CytoView hg19]  HSD17B4 - 5q23.1 [CytoView hg38]
Mapping of homologs : NCBIHSD17B4 [Mapview hg19]  HSD17B4 [Mapview hg38]
OMIM233400   261515   601860   
Gene and transcription
Genbank (Entrez)AK094049 AK293254 AK295440 AK298075 AK299685
RefSeq transcript (Entrez)NM_000414 NM_001199291 NM_001199292 NM_001292027 NM_001292028
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HSD17B4
Cluster EST : UnigeneHs.406861 [ NCBI ]
CGAP (NCI)Hs.406861
Alternative Splicing GalleryENSG00000133835
Gene ExpressionHSD17B4 [ NCBI-GEO ]   HSD17B4 [ EBI - ARRAY_EXPRESS ]   HSD17B4 [ SEEK ]   HSD17B4 [ MEM ]
Gene Expression Viewer (FireBrowse)HSD17B4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3295
GTEX Portal (Tissue expression)HSD17B4
Protein : pattern, domain, 3D structure
UniProt/SwissProtP51659   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP51659  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP51659
Splice isoforms : SwissVarP51659
Catalytic activity : Enzyme1.1.1.n12 [ Enzyme-Expasy ]   1.1.1.n121.1.1.n12 [ IntEnz-EBI ]   1.1.1.n12 [ BRENDA ]   1.1.1.n12 [ KEGG ]   
PhosPhoSitePlusP51659
Domaine pattern : Prosite (Expaxy)ADH_SHORT (PS00061)   
Domains : Interpro (EBI)HotDog_dom    MaoC_dom    NAD(P)-bd_dom    Sc_DH/Rdtase_CS    SCP2_sterol-bd_dom    SDR_fam   
Domain families : Pfam (Sanger)adh_short (PF00106)    MaoC_dehydratas (PF01575)    SCP2 (PF02036)   
Domain families : Pfam (NCBI)pfam00106    pfam01575    pfam02036   
Conserved Domain (NCBI)HSD17B4
DMDM Disease mutations3295
Blocks (Seattle)HSD17B4
PDB (SRS)1IKT    1S9C    1ZBQ   
PDB (PDBSum)1IKT    1S9C    1ZBQ   
PDB (IMB)1IKT    1S9C    1ZBQ   
PDB (RSDB)1IKT    1S9C    1ZBQ   
Structural Biology KnowledgeBase1IKT    1S9C    1ZBQ   
SCOP (Structural Classification of Proteins)1IKT    1S9C    1ZBQ   
CATH (Classification of proteins structures)1IKT    1S9C    1ZBQ   
SuperfamilyP51659
Human Protein AtlasENSG00000133835
Peptide AtlasP51659
HPRD03514
IPIIPI00019912   IPI00965117   IPI00909582   IPI00965336   IPI00965580   IPI00966528   IPI00966832   IPI01013542   
Protein Interaction databases
DIP (DOE-UCLA)P51659
IntAct (EBI)P51659
FunCoupENSG00000133835
BioGRIDHSD17B4
STRING (EMBL)HSD17B4
ZODIACHSD17B4
Ontologies - Pathways
QuickGOP51659
Ontology : AmiGOvery long-chain fatty acid metabolic process  osteoblast differentiation  3-hydroxyacyl-CoA dehydrogenase activity  3-hydroxyacyl-CoA dehydrogenase activity  receptor binding  mitochondrion  peroxisome  peroxisome  peroxisomal membrane  peroxisomal matrix  fatty acid beta-oxidation  bile acid biosynthetic process  androgen metabolic process  estrogen metabolic process  membrane  long-chain-enoyl-CoA hydratase activity  long-chain-enoyl-CoA hydratase activity  isomerase activity  fatty acid beta-oxidation using acyl-CoA oxidase  3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity  alpha-linolenic acid metabolic process  very long-chain fatty-acyl-CoA metabolic process  medium-chain fatty-acyl-CoA metabolic process  protein homodimerization activity  17-beta-hydroxysteroid dehydrogenase (NAD+) activity  Sertoli cell development  
Ontology : EGO-EBIvery long-chain fatty acid metabolic process  osteoblast differentiation  3-hydroxyacyl-CoA dehydrogenase activity  3-hydroxyacyl-CoA dehydrogenase activity  receptor binding  mitochondrion  peroxisome  peroxisome  peroxisomal membrane  peroxisomal matrix  fatty acid beta-oxidation  bile acid biosynthetic process  androgen metabolic process  estrogen metabolic process  membrane  long-chain-enoyl-CoA hydratase activity  long-chain-enoyl-CoA hydratase activity  isomerase activity  fatty acid beta-oxidation using acyl-CoA oxidase  3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity  alpha-linolenic acid metabolic process  very long-chain fatty-acyl-CoA metabolic process  medium-chain fatty-acyl-CoA metabolic process  protein homodimerization activity  17-beta-hydroxysteroid dehydrogenase (NAD+) activity  Sertoli cell development  
Pathways : BIOCARTAMechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha) [Genes]   
Pathways : KEGGPrimary bile acid biosynthesis    Peroxisome   
NDEx NetworkHSD17B4
Atlas of Cancer Signalling NetworkHSD17B4
Wikipedia pathwaysHSD17B4
Orthology - Evolution
OrthoDB3295
GeneTree (enSembl)ENSG00000133835
Phylogenetic Trees/Animal Genes : TreeFamHSD17B4
HOVERGENP51659
HOGENOMP51659
Homologs : HomoloGeneHSD17B4
Homology/Alignments : Family Browser (UCSC)HSD17B4
Gene fusions - Rearrangements
Fusion : MitelmanSLIT3/HSD17B4 [5q34/5q23.1]  [t(5;5)(q23;q35)]  
Fusion : MitelmanSTX8/HSD17B4 [17p13.1/5q23.1]  [t(5;17)(q23;p13)]  
Fusion: TCGASLIT3 5q34 HSD17B4 5q23.1 BRCA
Fusion: TCGASTX8 17p13.1 HSD17B4 5q23.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHSD17B4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HSD17B4
dbVarHSD17B4
ClinVarHSD17B4
1000_GenomesHSD17B4 
Exome Variant ServerHSD17B4
ExAC (Exome Aggregation Consortium)HSD17B4 (select the gene name)
Genetic variants : HAPMAP3295
Genomic Variants (DGV)HSD17B4 [DGVbeta]
DECIPHERHSD17B4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHSD17B4 
Mutations
ICGC Data PortalHSD17B4 
TCGA Data PortalHSD17B4 
Broad Tumor PortalHSD17B4
OASIS PortalHSD17B4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHSD17B4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHSD17B4
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch HSD17B4
DgiDB (Drug Gene Interaction Database)HSD17B4
DoCM (Curated mutations)HSD17B4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HSD17B4 (select a term)
intoGenHSD17B4
Cancer3DHSD17B4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM233400    261515    601860   
Orphanet2589    3578   
MedgenHSD17B4
Genetic Testing Registry HSD17B4
NextProtP51659 [Medical]
TSGene3295
GENETestsHSD17B4
Target ValidationHSD17B4
Huge Navigator HSD17B4 [HugePedia]
snp3D : Map Gene to Disease3295
BioCentury BCIQHSD17B4
ClinGenHSD17B4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3295
Chemical/Pharm GKB GenePA29481
Clinical trialHSD17B4
Miscellaneous
canSAR (ICR)HSD17B4 (select the gene name)
Probes
Litterature
PubMed96 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHSD17B4
EVEXHSD17B4
GoPubMedHSD17B4
iHOPHSD17B4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 25 19:12:24 CEST 2017

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