Atlas of Genetics and Cytogenetics in Oncology and Haematology

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HSD17B2 (hydroxysteroid 17-beta dehydrogenase 2)

Identity

Alias_namesmember 2
Alias_symbol (synonym)HSD17
SDR9C2
Other aliasEDH17B2
HGNC (Hugo) HSD17B2
LocusID (NCBI) 3294
Atlas_Id 40868
Location 16q23.3  [Link to chromosome band 16q23]
Location_base_pair Starts at 82035253 and ends at 82098534 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
GPT2 (16q11.2) / HSD17B2 (16q23.3)GSE1 (16q24.1) / HSD17B2 (16q23.3)HSD17B2 (16q23.3) / CDH1 (16q22.1)
GPT2 16q11.2 / HSD17B2 16q23.3KIAA0182 HSD17B2 16q23.3

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(16;16)(q11;q23) GPT2/HSD17B2
t(16;16)(q23;q24) GSE1/HSD17B2

External links

Nomenclature
HGNC (Hugo)HSD17B2   5211
Cards
Entrez_Gene (NCBI)HSD17B2  3294  hydroxysteroid 17-beta dehydrogenase 2
AliasesEDH17B2; HSD17; SDR9C2
GeneCards (Weizmann)HSD17B2
Ensembl hg19 (Hinxton)ENSG00000086696 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000086696 [Gene_View]  ENSG00000086696 [Sequence]  chr16:82035253-82098534 [Contig_View]  HSD17B2 [Vega]
ICGC DataPortalENSG00000086696
TCGA cBioPortalHSD17B2
AceView (NCBI)HSD17B2
Genatlas (Paris)HSD17B2
WikiGenes3294
SOURCE (Princeton)HSD17B2
Genetics Home Reference (NIH)HSD17B2
Genomic and cartography
GoldenPath hg38 (UCSC)HSD17B2  -     chr16:82035253-82098534 +  16q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HSD17B2  -     16q23.3   [Description]    (hg19-Feb_2009)
EnsemblHSD17B2 - 16q23.3 [CytoView hg19]  HSD17B2 - 16q23.3 [CytoView hg38]
Mapping of homologs : NCBIHSD17B2 [Mapview hg19]  HSD17B2 [Mapview hg38]
OMIM109685   
Gene and transcription
Genbank (Entrez)AK223001 AK313109 AU139034 BC009581 BC059170
RefSeq transcript (Entrez)NM_002153
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HSD17B2
Cluster EST : UnigeneHs.162795 [ NCBI ]
CGAP (NCI)Hs.162795
Alternative Splicing GalleryENSG00000086696
Gene ExpressionHSD17B2 [ NCBI-GEO ]   HSD17B2 [ EBI - ARRAY_EXPRESS ]   HSD17B2 [ SEEK ]   HSD17B2 [ MEM ]
Gene Expression Viewer (FireBrowse)HSD17B2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3294
GTEX Portal (Tissue expression)HSD17B2
Human Protein AtlasENSG00000086696-HSD17B2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP37059   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP37059  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP37059
Splice isoforms : SwissVarP37059
Catalytic activity : Enzyme1.1.1.62 [ Enzyme-Expasy ]   1.1.1.621.1.1.62 [ IntEnz-EBI ]   1.1.1.62 [ BRENDA ]   1.1.1.62 [ KEGG ]   
PhosPhoSitePlusP37059
Domaine pattern : Prosite (Expaxy)ADH_SHORT (PS00061)   
Domains : Interpro (EBI)NAD(P)-bd_dom    Sc_DH/Rdtase_CS    SDR_fam   
Domain families : Pfam (Sanger)adh_short (PF00106)   
Domain families : Pfam (NCBI)pfam00106   
Conserved Domain (NCBI)HSD17B2
DMDM Disease mutations3294
Blocks (Seattle)HSD17B2
SuperfamilyP37059
Human Protein Atlas [tissue]ENSG00000086696-HSD17B2 [tissue]
Peptide AtlasP37059
HPRD00186
IPIIPI00019872   
Protein Interaction databases
DIP (DOE-UCLA)P37059
IntAct (EBI)P37059
FunCoupENSG00000086696
BioGRIDHSD17B2
STRING (EMBL)HSD17B2
ZODIACHSD17B2
Ontologies - Pathways
QuickGOP37059
Ontology : AmiGOin utero embryonic development  placenta development  estradiol 17-beta-dehydrogenase activity  estradiol 17-beta-dehydrogenase activity  endoplasmic reticulum membrane  estrogen biosynthetic process  integral component of membrane  response to retinoic acid  17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity  testosterone dehydrogenase (NAD+) activity  oxidation-reduction process  
Ontology : EGO-EBIin utero embryonic development  placenta development  estradiol 17-beta-dehydrogenase activity  estradiol 17-beta-dehydrogenase activity  endoplasmic reticulum membrane  estrogen biosynthetic process  integral component of membrane  response to retinoic acid  17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity  testosterone dehydrogenase (NAD+) activity  oxidation-reduction process  
Pathways : KEGGAndrogen and estrogen metabolism   
NDEx NetworkHSD17B2
Atlas of Cancer Signalling NetworkHSD17B2
Wikipedia pathwaysHSD17B2
Orthology - Evolution
OrthoDB3294
GeneTree (enSembl)ENSG00000086696
Phylogenetic Trees/Animal Genes : TreeFamHSD17B2
HOVERGENP37059
HOGENOMP37059
Homologs : HomoloGeneHSD17B2
Homology/Alignments : Family Browser (UCSC)HSD17B2
Gene fusions - Rearrangements
Fusion : MitelmanGPT2/HSD17B2 [16q11.2/16q23.3]  [t(16;16)(q11;q23)]  
Fusion : MitelmanGSE1/HSD17B2 [16q24.1/16q23.3]  [t(16;16)(q23;q24)]  
Fusion PortalGPT2 16q11.2 HSD17B2 16q23.3 LUAD
Fusion PortalKIAA0182 HSD17B2 16q23.3 BRCA
Fusion : QuiverHSD17B2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHSD17B2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HSD17B2
dbVarHSD17B2
ClinVarHSD17B2
1000_GenomesHSD17B2 
Exome Variant ServerHSD17B2
ExAC (Exome Aggregation Consortium)ENSG00000086696
GNOMAD BrowserENSG00000086696
Genetic variants : HAPMAP3294
Genomic Variants (DGV)HSD17B2 [DGVbeta]
DECIPHERHSD17B2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHSD17B2 
Mutations
ICGC Data PortalHSD17B2 
TCGA Data PortalHSD17B2 
Broad Tumor PortalHSD17B2
OASIS PortalHSD17B2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHSD17B2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHSD17B2
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
BioMutasearch HSD17B2
DgiDB (Drug Gene Interaction Database)HSD17B2
DoCM (Curated mutations)HSD17B2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HSD17B2 (select a term)
intoGenHSD17B2
Cancer3DHSD17B2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM109685   
Orphanet
DisGeNETHSD17B2
MedgenHSD17B2
Genetic Testing Registry HSD17B2
NextProtP37059 [Medical]
TSGene3294
GENETestsHSD17B2
Target ValidationHSD17B2
Huge Navigator HSD17B2 [HugePedia]
snp3D : Map Gene to Disease3294
BioCentury BCIQHSD17B2
ClinGenHSD17B2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3294
Chemical/Pharm GKB GenePA29479
Clinical trialHSD17B2
Miscellaneous
canSAR (ICR)HSD17B2 (select the gene name)
Probes
Litterature
PubMed78 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHSD17B2
EVEXHSD17B2
GoPubMedHSD17B2
iHOPHSD17B2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Jun 22 16:29:52 CEST 2018
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