Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HSD17B14 (hydroxysteroid (17-beta) dehydrogenase 14)

Identity

Alias_namesDHRS10
dehydrogenase/reductase (SDR family) member 10
hydroxysteroid (17-beta) dehydrogenase 14
Alias_symbol (synonym)retSDR3
SDR47C1
Other alias
HGNC (Hugo) HSD17B14
LocusID (NCBI) 51171
Atlas_Id 53139
Location 19q13.33  [Link to chromosome band 19q13]
Location_base_pair Starts at 49316274 and ends at 49339934 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)HSD17B14   23238
Cards
Entrez_Gene (NCBI)HSD17B14  51171  hydroxysteroid (17-beta) dehydrogenase 14
AliasesDHRS10; SDR47C1; retSDR3
GeneCards (Weizmann)HSD17B14
Ensembl hg19 (Hinxton)ENSG00000087076 [Gene_View]  chr19:49316274-49339934 [Contig_View]  HSD17B14 [Vega]
Ensembl hg38 (Hinxton)ENSG00000087076 [Gene_View]  chr19:49316274-49339934 [Contig_View]  HSD17B14 [Vega]
ICGC DataPortalENSG00000087076
TCGA cBioPortalHSD17B14
AceView (NCBI)HSD17B14
Genatlas (Paris)HSD17B14
WikiGenes51171
SOURCE (Princeton)HSD17B14
Genetics Home Reference (NIH)HSD17B14
Genomic and cartography
GoldenPath hg19 (UCSC)HSD17B14  -     chr19:49316274-49339934 -  19q13.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HSD17B14  -     19q13.33   [Description]    (hg38-Dec_2013)
EnsemblHSD17B14 - 19q13.33 [CytoView hg19]  HSD17B14 - 19q13.33 [CytoView hg38]
Mapping of homologs : NCBIHSD17B14 [Mapview hg19]  HSD17B14 [Mapview hg38]
OMIM612832   
Gene and transcription
Genbank (Entrez)AF126781 AK307437 AY358430 BC006283 BC006294
RefSeq transcript (Entrez)NM_016246
RefSeq genomic (Entrez)NC_000019 NC_018930 NT_011109 NW_004929415
Consensus coding sequences : CCDS (NCBI)HSD17B14
Cluster EST : UnigeneHs.18788 [ NCBI ]
CGAP (NCI)Hs.18788
Alternative Splicing GalleryENSG00000087076
Gene ExpressionHSD17B14 [ NCBI-GEO ]   HSD17B14 [ EBI - ARRAY_EXPRESS ]   HSD17B14 [ SEEK ]   HSD17B14 [ MEM ]
Gene Expression Viewer (FireBrowse)HSD17B14 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51171
GTEX Portal (Tissue expression)HSD17B14
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BPX1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BPX1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BPX1
Splice isoforms : SwissVarQ9BPX1
Catalytic activity : Enzyme1.1.1.- [ Enzyme-Expasy ]   1.1.1.-1.1.1.- [ IntEnz-EBI ]   1.1.1.- [ BRENDA ]   1.1.1.- [ KEGG ]   
PhosPhoSitePlusQ9BPX1
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)HSD17B14
DMDM Disease mutations51171
Blocks (Seattle)HSD17B14
PDB (SRS)1YDE   
PDB (PDBSum)1YDE   
PDB (IMB)1YDE   
PDB (RSDB)1YDE   
Structural Biology KnowledgeBase1YDE   
SCOP (Structural Classification of Proteins)1YDE   
CATH (Classification of proteins structures)1YDE   
SuperfamilyQ9BPX1
Human Protein AtlasENSG00000087076
Peptide AtlasQ9BPX1
HPRD16801
IPIIPI00329702   
Protein Interaction databases
DIP (DOE-UCLA)Q9BPX1
IntAct (EBI)Q9BPX1
FunCoupENSG00000087076
BioGRIDHSD17B14
STRING (EMBL)HSD17B14
ZODIACHSD17B14
Ontologies - Pathways
QuickGOQ9BPX1
Ontology : AmiGOestradiol 17-beta-dehydrogenase activity  estradiol 17-beta-dehydrogenase activity  protein binding  cytosol  cytosol  estrogen biosynthetic process  steroid catabolic process  testosterone 17-beta-dehydrogenase (NADP+) activity  oxidation-reduction process  
Ontology : EGO-EBIestradiol 17-beta-dehydrogenase activity  estradiol 17-beta-dehydrogenase activity  protein binding  cytosol  cytosol  estrogen biosynthetic process  steroid catabolic process  testosterone 17-beta-dehydrogenase (NADP+) activity  oxidation-reduction process  
NDEx NetworkHSD17B14
Atlas of Cancer Signalling NetworkHSD17B14
Wikipedia pathwaysHSD17B14
Orthology - Evolution
OrthoDB51171
GeneTree (enSembl)ENSG00000087076
Phylogenetic Trees/Animal Genes : TreeFamHSD17B14
HOVERGENQ9BPX1
HOGENOMQ9BPX1
Homologs : HomoloGeneHSD17B14
Homology/Alignments : Family Browser (UCSC)HSD17B14
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHSD17B14 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HSD17B14
dbVarHSD17B14
ClinVarHSD17B14
1000_GenomesHSD17B14 
Exome Variant ServerHSD17B14
ExAC (Exome Aggregation Consortium)HSD17B14 (select the gene name)
Genetic variants : HAPMAP51171
Genomic Variants (DGV)HSD17B14 [DGVbeta]
DECIPHER (Syndromes)19:49316274-49339934  ENSG00000087076
CONAN: Copy Number AnalysisHSD17B14 
Mutations
ICGC Data PortalHSD17B14 
TCGA Data PortalHSD17B14 
Broad Tumor PortalHSD17B14
OASIS PortalHSD17B14 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHSD17B14  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHSD17B14
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 HSD17B14
DgiDB (Drug Gene Interaction Database)HSD17B14
DoCM (Curated mutations)HSD17B14 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HSD17B14 (select a term)
intoGenHSD17B14
Cancer3DHSD17B14(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612832   
Orphanet
MedgenHSD17B14
Genetic Testing Registry HSD17B14
NextProtQ9BPX1 [Medical]
TSGene51171
GENETestsHSD17B14
Huge Navigator HSD17B14 [HugePedia]
snp3D : Map Gene to Disease51171
BioCentury BCIQHSD17B14
ClinGenHSD17B14
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51171
Chemical/Pharm GKB GenePA162391674
Clinical trialHSD17B14
Miscellaneous
canSAR (ICR)HSD17B14 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHSD17B14
EVEXHSD17B14
GoPubMedHSD17B14
iHOPHSD17B14
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:09:49 CET 2017

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