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HSD17B3 (hydroxysteroid (17-beta) dehydrogenase 3)

Identity

Alias_namesmember 2
Alias_symbol (synonym)SDR12C2
Other aliasEDH17B3
HGNC (Hugo) HSD17B3
LocusID (NCBI) 3293
Atlas_Id 53741
Location 9q22.32  [Link to chromosome band 9q22]
Location_base_pair Starts at 98997589 and ends at 99064434 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
HSD17B3 (9q22.32) / ENPP2 (8q24.12)HSD17B3 9q22.32 / ENPP2 8q24.12

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)HSD17B3   5212
Cards
Entrez_Gene (NCBI)HSD17B3  3293  hydroxysteroid (17-beta) dehydrogenase 3
AliasesEDH17B3; SDR12C2
GeneCards (Weizmann)HSD17B3
Ensembl hg19 (Hinxton)ENSG00000130948 [Gene_View]  chr9:98997589-99064434 [Contig_View]  HSD17B3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000130948 [Gene_View]  chr9:98997589-99064434 [Contig_View]  HSD17B3 [Vega]
ICGC DataPortalENSG00000130948
TCGA cBioPortalHSD17B3
AceView (NCBI)HSD17B3
Genatlas (Paris)HSD17B3
WikiGenes3293
SOURCE (Princeton)HSD17B3
Genetics Home Reference (NIH)HSD17B3
Genomic and cartography
GoldenPath hg19 (UCSC)HSD17B3  -     chr9:98997589-99064434 -  9q22.32   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HSD17B3  -     9q22.32   [Description]    (hg38-Dec_2013)
EnsemblHSD17B3 - 9q22.32 [CytoView hg19]  HSD17B3 - 9q22.32 [CytoView hg38]
Mapping of homologs : NCBIHSD17B3 [Mapview hg19]  HSD17B3 [Mapview hg38]
OMIM264300   605573   
Gene and transcription
Genbank (Entrez)BC034281 BT019371 CR541894 DQ891812 DQ894995
RefSeq transcript (Entrez)NM_000197
RefSeq genomic (Entrez)NC_000009 NC_018920 NG_008157 NT_008470 NW_004929366
Consensus coding sequences : CCDS (NCBI)HSD17B3
Cluster EST : UnigeneHs.477 [ NCBI ]
CGAP (NCI)Hs.477
Alternative Splicing GalleryENSG00000130948
Gene ExpressionHSD17B3 [ NCBI-GEO ]   HSD17B3 [ EBI - ARRAY_EXPRESS ]   HSD17B3 [ SEEK ]   HSD17B3 [ MEM ]
Gene Expression Viewer (FireBrowse)HSD17B3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3293
GTEX Portal (Tissue expression)HSD17B3
Protein : pattern, domain, 3D structure
UniProt/SwissProtP37058   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP37058  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP37058
Splice isoforms : SwissVarP37058
Catalytic activity : Enzyme1.1.1.64 [ Enzyme-Expasy ]   1.1.1.641.1.1.64 [ IntEnz-EBI ]   1.1.1.64 [ BRENDA ]   1.1.1.64 [ KEGG ]   
PhosPhoSitePlusP37058
Domaine pattern : Prosite (Expaxy)ADH_SHORT (PS00061)   
Domains : Interpro (EBI)DH_sc/Rdtase_SDR    Glc/ribitol_DH    NAD(P)-bd_dom    Sc_DH/Rdtase_CS   
Domain families : Pfam (Sanger)adh_short (PF00106)   
Domain families : Pfam (NCBI)pfam00106   
Conserved Domain (NCBI)HSD17B3
DMDM Disease mutations3293
Blocks (Seattle)HSD17B3
SuperfamilyP37058
Human Protein AtlasENSG00000130948
Peptide AtlasP37058
HPRD05716
IPIIPI00019871   IPI00844601   
Protein Interaction databases
DIP (DOE-UCLA)P37058
IntAct (EBI)P37058
FunCoupENSG00000130948
BioGRIDHSD17B3
STRING (EMBL)HSD17B3
ZODIACHSD17B3
Ontologies - Pathways
QuickGOP37058
Ontology : AmiGOendoplasmic reticulum  endoplasmic reticulum membrane  androgen biosynthetic process  male genitalia development  intracellular membrane-bounded organelle  testosterone dehydrogenase (NAD+) activity  testosterone 17-beta-dehydrogenase (NADP+) activity  oxidation-reduction process  testosterone biosynthetic process  
Ontology : EGO-EBIendoplasmic reticulum  endoplasmic reticulum membrane  androgen biosynthetic process  male genitalia development  intracellular membrane-bounded organelle  testosterone dehydrogenase (NAD+) activity  testosterone 17-beta-dehydrogenase (NADP+) activity  oxidation-reduction process  testosterone biosynthetic process  
Pathways : KEGGSteroid hormone biosynthesis   
NDEx NetworkHSD17B3
Atlas of Cancer Signalling NetworkHSD17B3
Wikipedia pathwaysHSD17B3
Orthology - Evolution
OrthoDB3293
GeneTree (enSembl)ENSG00000130948
Phylogenetic Trees/Animal Genes : TreeFamHSD17B3
HOVERGENP37058
HOGENOMP37058
Homologs : HomoloGeneHSD17B3
Homology/Alignments : Family Browser (UCSC)HSD17B3
Gene fusions - Rearrangements
Fusion : MitelmanHSD17B3/ENPP2 [9q22.32/8q24.12]  
Fusion: TCGAHSD17B3 9q22.32 ENPP2 8q24.12 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHSD17B3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HSD17B3
dbVarHSD17B3
ClinVarHSD17B3
1000_GenomesHSD17B3 
Exome Variant ServerHSD17B3
ExAC (Exome Aggregation Consortium)HSD17B3 (select the gene name)
Genetic variants : HAPMAP3293
Genomic Variants (DGV)HSD17B3 [DGVbeta]
DECIPHER (Syndromes)9:98997589-99064434  ENSG00000130948
CONAN: Copy Number AnalysisHSD17B3 
Mutations
ICGC Data PortalHSD17B3 
TCGA Data PortalHSD17B3 
Broad Tumor PortalHSD17B3
OASIS PortalHSD17B3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHSD17B3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHSD17B3
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)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
BioMutasearch HSD17B3
DgiDB (Drug Gene Interaction Database)HSD17B3
DoCM (Curated mutations)HSD17B3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HSD17B3 (select a term)
intoGenHSD17B3
Cancer3DHSD17B3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM264300    605573   
Orphanet203   
MedgenHSD17B3
Genetic Testing Registry HSD17B3
NextProtP37058 [Medical]
TSGene3293
GENETestsHSD17B3
Huge Navigator HSD17B3 [HugePedia]
snp3D : Map Gene to Disease3293
BioCentury BCIQHSD17B3
ClinGenHSD17B3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3293
Chemical/Pharm GKB GenePA29480
Clinical trialHSD17B3
Miscellaneous
canSAR (ICR)HSD17B3 (select the gene name)
Probes
Litterature
PubMed47 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHSD17B3
EVEXHSD17B3
GoPubMedHSD17B3
iHOPHSD17B3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:04:24 CEST 2017

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