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HSD17B7 (hydroxysteroid (17-beta) dehydrogenase 7)

Identity

Alias_namesmember 1
Alias_symbol (synonym)PRAP
SDR37C1
Other alias
HGNC (Hugo) HSD17B7
LocusID (NCBI) 51478
Atlas_Id 40869
Location 1q23.3  [Link to chromosome band 1q23]
Location_base_pair Starts at 162760492 and ends at 162767932 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)HSD17B7   5215
Cards
Entrez_Gene (NCBI)HSD17B7  51478  hydroxysteroid (17-beta) dehydrogenase 7
AliasesPRAP; SDR37C1
GeneCards (Weizmann)HSD17B7
Ensembl hg19 (Hinxton)ENSG00000132196 [Gene_View]  chr1:162760492-162767932 [Contig_View]  HSD17B7 [Vega]
Ensembl hg38 (Hinxton)ENSG00000132196 [Gene_View]  chr1:162760492-162767932 [Contig_View]  HSD17B7 [Vega]
ICGC DataPortalENSG00000132196
TCGA cBioPortalHSD17B7
AceView (NCBI)HSD17B7
Genatlas (Paris)HSD17B7
WikiGenes51478
SOURCE (Princeton)HSD17B7
Genetics Home Reference (NIH)HSD17B7
Genomic and cartography
GoldenPath hg19 (UCSC)HSD17B7  -     chr1:162760492-162767932 +  1q23.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HSD17B7  -     1q23.3   [Description]    (hg38-Dec_2013)
EnsemblHSD17B7 - 1q23.3 [CytoView hg19]  HSD17B7 - 1q23.3 [CytoView hg38]
Mapping of homologs : NCBIHSD17B7 [Mapview hg19]  HSD17B7 [Mapview hg38]
OMIM606756   
Gene and transcription
Genbank (Entrez)AF098786 AF145023 AJ249179 AK022929 AK290741
RefSeq transcript (Entrez)NM_001304512 NM_001304513 NM_016371
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_004487 NW_004929293
Consensus coding sequences : CCDS (NCBI)HSD17B7
Cluster EST : UnigeneHs.492925 [ NCBI ]
CGAP (NCI)Hs.492925
Alternative Splicing GalleryENSG00000132196
Gene ExpressionHSD17B7 [ NCBI-GEO ]   HSD17B7 [ EBI - ARRAY_EXPRESS ]   HSD17B7 [ SEEK ]   HSD17B7 [ MEM ]
Gene Expression Viewer (FireBrowse)HSD17B7 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51478
GTEX Portal (Tissue expression)HSD17B7
Protein : pattern, domain, 3D structure
UniProt/SwissProtP56937   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP56937  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP56937
Splice isoforms : SwissVarP56937
Catalytic activity : Enzyme1.1.1.270 [ Enzyme-Expasy ]   1.1.1.2701.1.1.270 [ IntEnz-EBI ]   1.1.1.270 [ BRENDA ]   1.1.1.270 [ KEGG ]   
PhosPhoSitePlusP56937
Domains : Interpro (EBI)DH_sc/Rdtase_SDR    Glc/ribitol_DH    NAD(P)-bd_dom   
Domain families : Pfam (Sanger)adh_short (PF00106)   
Domain families : Pfam (NCBI)pfam00106   
Conserved Domain (NCBI)HSD17B7
DMDM Disease mutations51478
Blocks (Seattle)HSD17B7
SuperfamilyP56937
Human Protein AtlasENSG00000132196
Peptide AtlasP56937
HPRD05996
IPIIPI00011970   IPI00220886   IPI00807691   IPI00910927   IPI00937269   IPI01012425   IPI00787995   
Protein Interaction databases
DIP (DOE-UCLA)P56937
IntAct (EBI)P56937
FunCoupENSG00000132196
BioGRIDHSD17B7
STRING (EMBL)HSD17B7
ZODIACHSD17B7
Ontologies - Pathways
QuickGOP56937
Ontology : AmiGO3-keto sterol reductase activity  estradiol 17-beta-dehydrogenase activity  endoplasmic reticulum membrane  plasma membrane  cholesterol biosynthetic process  estrogen biosynthetic process  integral component of membrane  oxidation-reduction process  
Ontology : EGO-EBI3-keto sterol reductase activity  estradiol 17-beta-dehydrogenase activity  endoplasmic reticulum membrane  plasma membrane  cholesterol biosynthetic process  estrogen biosynthetic process  integral component of membrane  oxidation-reduction process  
Pathways : KEGGSteroid biosynthesis    Steroid hormone biosynthesis    Ovarian steroidogenesis   
NDEx NetworkHSD17B7
Atlas of Cancer Signalling NetworkHSD17B7
Wikipedia pathwaysHSD17B7
Orthology - Evolution
OrthoDB51478
GeneTree (enSembl)ENSG00000132196
Phylogenetic Trees/Animal Genes : TreeFamHSD17B7
HOVERGENP56937
HOGENOMP56937
Homologs : HomoloGeneHSD17B7
Homology/Alignments : Family Browser (UCSC)HSD17B7
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHSD17B7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HSD17B7
dbVarHSD17B7
ClinVarHSD17B7
1000_GenomesHSD17B7 
Exome Variant ServerHSD17B7
ExAC (Exome Aggregation Consortium)HSD17B7 (select the gene name)
Genetic variants : HAPMAP51478
Genomic Variants (DGV)HSD17B7 [DGVbeta]
DECIPHER (Syndromes)1:162760492-162767932  ENSG00000132196
CONAN: Copy Number AnalysisHSD17B7 
Mutations
ICGC Data PortalHSD17B7 
TCGA Data PortalHSD17B7 
Broad Tumor PortalHSD17B7
OASIS PortalHSD17B7 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHSD17B7  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHSD17B7
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 HSD17B7
DgiDB (Drug Gene Interaction Database)HSD17B7
DoCM (Curated mutations)HSD17B7 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HSD17B7 (select a term)
intoGenHSD17B7
Cancer3DHSD17B7(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606756   
Orphanet
MedgenHSD17B7
Genetic Testing Registry HSD17B7
NextProtP56937 [Medical]
TSGene51478
GENETestsHSD17B7
Huge Navigator HSD17B7 [HugePedia]
snp3D : Map Gene to Disease51478
BioCentury BCIQHSD17B7
ClinGenHSD17B7
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51478
Chemical/Pharm GKB GenePA29483
Clinical trialHSD17B7
Miscellaneous
canSAR (ICR)HSD17B7 (select the gene name)
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHSD17B7
EVEXHSD17B7
GoPubMedHSD17B7
iHOPHSD17B7
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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