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HSD17B13 (hydroxysteroid 17-beta dehydrogenase 13)

Identity

Alias_nameshydroxysteroid (17-beta) dehydrogenase 13
Alias_symbol (synonym)SCDR9
SDR16C3
Other aliasHMFN0376
NIIL497
HGNC (Hugo) HSD17B13
LocusID (NCBI) 345275
Atlas_Id 64436
Location 4q22.1  [Link to chromosome band 4q22]
Location_base_pair Starts at 87303789 and ends at 87322906 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
HSD17B11 (4q22.1) / HSD17B13 (4q22.1)

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)HSD17B13   18685
Cards
Entrez_Gene (NCBI)HSD17B13  345275  hydroxysteroid 17-beta dehydrogenase 13
AliasesHMFN0376; NIIL497; SCDR9; SDR16C3
GeneCards (Weizmann)HSD17B13
Ensembl hg19 (Hinxton)ENSG00000170509 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000170509 [Gene_View]  chr4:87303789-87322906 [Contig_View]  HSD17B13 [Vega]
ICGC DataPortalENSG00000170509
TCGA cBioPortalHSD17B13
AceView (NCBI)HSD17B13
Genatlas (Paris)HSD17B13
WikiGenes345275
SOURCE (Princeton)HSD17B13
Genetics Home Reference (NIH)HSD17B13
Genomic and cartography
GoldenPath hg38 (UCSC)HSD17B13  -     chr4:87303789-87322906 -  4q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HSD17B13  -     4q22.1   [Description]    (hg19-Feb_2009)
EnsemblHSD17B13 - 4q22.1 [CytoView hg19]  HSD17B13 - 4q22.1 [CytoView hg38]
Mapping of homologs : NCBIHSD17B13 [Mapview hg19]  HSD17B13 [Mapview hg38]
OMIM612127   
Gene and transcription
Genbank (Entrez)AB073347 AK292784 AY186249 AY186250 AY268355
RefSeq transcript (Entrez)NM_001136230 NM_178135
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HSD17B13
Cluster EST : UnigeneHs.284414 [ NCBI ]
CGAP (NCI)Hs.284414
Alternative Splicing GalleryENSG00000170509
Gene ExpressionHSD17B13 [ NCBI-GEO ]   HSD17B13 [ EBI - ARRAY_EXPRESS ]   HSD17B13 [ SEEK ]   HSD17B13 [ MEM ]
Gene Expression Viewer (FireBrowse)HSD17B13 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)345275
GTEX Portal (Tissue expression)HSD17B13
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7Z5P4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7Z5P4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7Z5P4
Splice isoforms : SwissVarQ7Z5P4
Catalytic activity : Enzyme1.1.-.- [ Enzyme-Expasy ]   1.1.-.-1.1.-.- [ IntEnz-EBI ]   1.1.-.- [ BRENDA ]   1.1.-.- [ KEGG ]   
PhosPhoSitePlusQ7Z5P4
Domains : Interpro (EBI)NAD(P)-bd_dom    SDR_fam   
Domain families : Pfam (Sanger)adh_short (PF00106)   
Domain families : Pfam (NCBI)pfam00106   
Conserved Domain (NCBI)HSD17B13
DMDM Disease mutations345275
Blocks (Seattle)HSD17B13
SuperfamilyQ7Z5P4
Human Protein AtlasENSG00000170509
Peptide AtlasQ7Z5P4
HPRD18023
IPIIPI00376206   IPI00384356   
Protein Interaction databases
DIP (DOE-UCLA)Q7Z5P4
IntAct (EBI)Q7Z5P4
FunCoupENSG00000170509
BioGRIDHSD17B13
STRING (EMBL)HSD17B13
ZODIACHSD17B13
Ontologies - Pathways
QuickGOQ7Z5P4
Ontology : AmiGOmolecular_function  cellular_component  extracellular region  lipid particle  cytosol  biological_process  oxidoreductase activity  positive regulation of lipid biosynthetic process  oxidation-reduction process  
Ontology : EGO-EBImolecular_function  cellular_component  extracellular region  lipid particle  cytosol  biological_process  oxidoreductase activity  positive regulation of lipid biosynthetic process  oxidation-reduction process  
NDEx NetworkHSD17B13
Atlas of Cancer Signalling NetworkHSD17B13
Wikipedia pathwaysHSD17B13
Orthology - Evolution
OrthoDB345275
GeneTree (enSembl)ENSG00000170509
Phylogenetic Trees/Animal Genes : TreeFamHSD17B13
HOVERGENQ7Z5P4
HOGENOMQ7Z5P4
Homologs : HomoloGeneHSD17B13
Homology/Alignments : Family Browser (UCSC)HSD17B13
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHSD17B13 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HSD17B13
dbVarHSD17B13
ClinVarHSD17B13
1000_GenomesHSD17B13 
Exome Variant ServerHSD17B13
ExAC (Exome Aggregation Consortium)HSD17B13 (select the gene name)
Genetic variants : HAPMAP345275
Genomic Variants (DGV)HSD17B13 [DGVbeta]
DECIPHERHSD17B13 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHSD17B13 
Mutations
ICGC Data PortalHSD17B13 
TCGA Data PortalHSD17B13 
Broad Tumor PortalHSD17B13
OASIS PortalHSD17B13 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHSD17B13  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHSD17B13
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 HSD17B13
DgiDB (Drug Gene Interaction Database)HSD17B13
DoCM (Curated mutations)HSD17B13 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HSD17B13 (select a term)
intoGenHSD17B13
Cancer3DHSD17B13(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612127   
Orphanet
MedgenHSD17B13
Genetic Testing Registry HSD17B13
NextProtQ7Z5P4 [Medical]
TSGene345275
GENETestsHSD17B13
Target ValidationHSD17B13
Huge Navigator HSD17B13 [HugePedia]
snp3D : Map Gene to Disease345275
BioCentury BCIQHSD17B13
ClinGenHSD17B13
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD345275
Chemical/Pharm GKB GenePA38634
Clinical trialHSD17B13
Miscellaneous
canSAR (ICR)HSD17B13 (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHSD17B13
EVEXHSD17B13
GoPubMedHSD17B13
iHOPHSD17B13
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 15:52:51 CEST 2017

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