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HSD17B8 (hydroxysteroid (17-beta) dehydrogenase 8)

Identity

Other namesD6S2245E
FABG
FABGL
H2-KE6
HKE6
KE6
RING2
SDR30C1
dJ1033B10.9
HGNC (Hugo) HSD17B8
LocusID (NCBI) 7923
Location 6p21.32
Location_base_pair Starts at 33172414 and ends at 33174608 bp from pter ( according to hg19-Feb_2009)
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)HSD17B8   3554
Cards
Entrez_Gene (NCBI)HSD17B8  7923  hydroxysteroid (17-beta) dehydrogenase 8
GeneCards (Weizmann)HSD17B8
Ensembl hg19 (Hinxton)ENSG00000204228 [Gene_View]  chr6:33172414-33174608 [Contig_View]  HSD17B8 [Vega]
Ensembl hg38 (Hinxton)ENSG00000204228 [Gene_View]  chr6:33172414-33174608 [Contig_View]  HSD17B8 [Vega]
ICGC DataPortalENSG00000204228
cBioPortalHSD17B8
AceView (NCBI)HSD17B8
Genatlas (Paris)HSD17B8
WikiGenes7923
SOURCE (Princeton)HSD17B8
Genomic and cartography
GoldenPath hg19 (UCSC)HSD17B8  -     chr6:33172414-33174608 +  6p21.32   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HSD17B8  -     6p21.32   [Description]    (hg38-Dec_2013)
EnsemblHSD17B8 - 6p21.32 [CytoView hg19]  HSD17B8 - 6p21.32 [CytoView hg38]
Mapping of homologs : NCBIHSD17B8 [Mapview hg19]  HSD17B8 [Mapview hg38]
OMIM601417   
Gene and transcription
Genbank (Entrez)AM393508 AW025057 BC008185 BT007239 D82061
RefSeq transcript (Entrez)NM_014234
RefSeq genomic (Entrez)AC_000138 NC_000006 NC_018917 NT_007592 NT_113891 NT_167245 NT_167246 NT_167247 NT_167248 NW_001838980 NW_004929326
Consensus coding sequences : CCDS (NCBI)HSD17B8
Cluster EST : UnigeneHs.415058 [ NCBI ]
CGAP (NCI)Hs.415058
Alternative Splicing : Fast-db (Paris)GSHG0025645
Alternative Splicing GalleryENSG00000204228
Gene ExpressionHSD17B8 [ NCBI-GEO ]     HSD17B8 [ SEEK ]   HSD17B8 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92506 (Uniprot)
NextProtQ92506  [Medical]
With graphics : InterProQ92506
Splice isoforms : SwissVarQ92506 (Swissvar)
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 ]   
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   
Related proteins : CluSTrQ92506
Domain families : Pfam (Sanger)adh_short (PF00106)   
Domain families : Pfam (NCBI)pfam00106   
DMDM Disease mutations7923
Blocks (Seattle)Q92506
PDB (SRS)2PD6   
PDB (PDBSum)2PD6   
PDB (IMB)2PD6   
PDB (RSDB)2PD6   
Human Protein AtlasENSG00000204228
Peptide AtlasQ92506
HPRD03248
IPIIPI00021890   
Protein Interaction databases
DIP (DOE-UCLA)Q92506
IntAct (EBI)Q92506
FunCoupENSG00000204228
BioGRIDHSD17B8
IntegromeDBHSD17B8
STRING (EMBL)HSD17B8
Ontologies - Pathways
QuickGOQ92506
Ontology : AmiGO3-hydroxyacyl-CoA dehydrogenase activity  estradiol 17-beta-dehydrogenase activity  protein binding  mitochondrial envelope  mitochondrial matrix  plasma membrane  fatty acid biosynthetic process  estrogen biosynthetic process  estrogen biosynthetic process  androgen metabolic process  testosterone dehydrogenase (NAD+) activity  oxidation-reduction process  
Ontology : EGO-EBI3-hydroxyacyl-CoA dehydrogenase activity  estradiol 17-beta-dehydrogenase activity  protein binding  mitochondrial envelope  mitochondrial matrix  plasma membrane  fatty acid biosynthetic process  estrogen biosynthetic process  estrogen biosynthetic process  androgen metabolic process  testosterone dehydrogenase (NAD+) activity  oxidation-reduction process  
Pathways : KEGGSteroid hormone biosynthesis   
Protein Interaction DatabaseHSD17B8
DoCM (Curated mutations)HSD17B8
Wikipedia pathwaysHSD17B8
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerHSD17B8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HSD17B8
dbVarHSD17B8
ClinVarHSD17B8
1000_GenomesHSD17B8 
Exome Variant ServerHSD17B8
SNP (GeneSNP Utah)HSD17B8
SNP : HGBaseHSD17B8
Genetic variants : HAPMAPHSD17B8
Genomic VariantsHSD17B8  HSD17B8 [DGVbeta]
Mutations
ICGC Data PortalENSG00000204228 
Somatic Mutations in Cancer : COSMICHSD17B8 
CONAN: Copy Number AnalysisHSD17B8 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)6:33172414-33174608
Mutations and Diseases : HGMDHSD17B8
OMIM601417   
MedgenHSD17B8
NextProtQ92506 [Medical]
GENETestsHSD17B8
Disease Genetic AssociationHSD17B8
Huge Navigator HSD17B8 [HugePedia]  HSD17B8 [HugeCancerGEM]
snp3D : Map Gene to Disease7923
DGIdb (Drug Gene Interaction db)HSD17B8
General knowledge
Homologs : HomoloGeneHSD17B8
Homology/Alignments : Family Browser (UCSC)HSD17B8
Phylogenetic Trees/Animal Genes : TreeFamHSD17B8
Chemical/Protein Interactions : CTD7923
Chemical/Pharm GKB GenePA29484
Clinical trialHSD17B8
Cancer Resource (Charite)ENSG00000204228
Other databases
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
CoreMineHSD17B8
GoPubMedHSD17B8
iHOPHSD17B8
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 22:04:26 CET 2014

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