Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SDR16C5 (short chain dehydrogenase/reductase family 16C member 5)

Identity

Alias_symbol (synonym)RDHE2
RDH-E2
Other aliasEPHD-2
RDH#2
retSDR2
HGNC (Hugo) SDR16C5
LocusID (NCBI) 195814
Atlas_Id 56294
Location 8q12.1  [Link to chromosome band 8q12]
Location_base_pair Starts at 56299648 and ends at 56320776 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)
ZNF384 (12p13.31) / SDR16C5 (8q12.1)

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)SDR16C5   30311
Cards
Entrez_Gene (NCBI)SDR16C5  195814  short chain dehydrogenase/reductase family 16C member 5
AliasesEPHD-2; RDH#2; RDH-E2; RDHE2; 
retSDR2
GeneCards (Weizmann)SDR16C5
Ensembl hg19 (Hinxton)ENSG00000170786 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000170786 [Gene_View]  chr8:56299648-56320776 [Contig_View]  SDR16C5 [Vega]
ICGC DataPortalENSG00000170786
TCGA cBioPortalSDR16C5
AceView (NCBI)SDR16C5
Genatlas (Paris)SDR16C5
WikiGenes195814
SOURCE (Princeton)SDR16C5
Genetics Home Reference (NIH)SDR16C5
Genomic and cartography
GoldenPath hg38 (UCSC)SDR16C5  -     chr8:56299648-56320776 -  8q12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SDR16C5  -     8q12.1   [Description]    (hg19-Feb_2009)
EnsemblSDR16C5 - 8q12.1 [CytoView hg19]  SDR16C5 - 8q12.1 [CytoView hg38]
Mapping of homologs : NCBISDR16C5 [Mapview hg19]  SDR16C5 [Mapview hg38]
OMIM608989   
Gene and transcription
Genbank (Entrez)AB083038 AK057667 AK095159 AK294634 AY444559
RefSeq transcript (Entrez)NM_001318049 NM_001318050 NM_138969
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SDR16C5
Cluster EST : UnigeneHs.170673 [ NCBI ]
CGAP (NCI)Hs.170673
Alternative Splicing GalleryENSG00000170786
Gene ExpressionSDR16C5 [ NCBI-GEO ]   SDR16C5 [ EBI - ARRAY_EXPRESS ]   SDR16C5 [ SEEK ]   SDR16C5 [ MEM ]
Gene Expression Viewer (FireBrowse)SDR16C5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)195814
GTEX Portal (Tissue expression)SDR16C5
Human Protein AtlasENSG00000170786-SDR16C5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N3Y7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N3Y7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N3Y7
Splice isoforms : SwissVarQ8N3Y7
Catalytic activity : Enzyme1.1.1.105 [ Enzyme-Expasy ]   1.1.1.1051.1.1.105 [ IntEnz-EBI ]   1.1.1.105 [ BRENDA ]   1.1.1.105 [ KEGG ]   
PhosPhoSitePlusQ8N3Y7
Domains : Interpro (EBI)NAD(P)-bd_dom    SDR_fam   
Domain families : Pfam (Sanger)adh_short (PF00106)   
Domain families : Pfam (NCBI)pfam00106   
Conserved Domain (NCBI)SDR16C5
DMDM Disease mutations195814
Blocks (Seattle)SDR16C5
SuperfamilyQ8N3Y7
Human Protein Atlas [tissue]ENSG00000170786-SDR16C5 [tissue]
Peptide AtlasQ8N3Y7
HPRD12351
IPIIPI00166663   IPI00656011   IPI00980522   
Protein Interaction databases
DIP (DOE-UCLA)Q8N3Y7
IntAct (EBI)Q8N3Y7
FunCoupENSG00000170786
BioGRIDSDR16C5
STRING (EMBL)SDR16C5
ZODIACSDR16C5
Ontologies - Pathways
QuickGOQ8N3Y7
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  chromatin  transcriptional repressor activity, RNA polymerase II transcription factor binding  retinol dehydrogenase activity  retinol dehydrogenase activity  nucleus  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum membrane  plasma membrane  transcription factor binding  integral component of membrane  transcriptional repressor complex  positive regulation of histone deacetylation  activating transcription factor binding  negative regulation of histone acetylation  retinol metabolic process  retinol metabolic process  retinal metabolic process  keratinocyte proliferation  oxidation-reduction process  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  chromatin  transcriptional repressor activity, RNA polymerase II transcription factor binding  retinol dehydrogenase activity  retinol dehydrogenase activity  nucleus  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum membrane  plasma membrane  transcription factor binding  integral component of membrane  transcriptional repressor complex  positive regulation of histone deacetylation  activating transcription factor binding  negative regulation of histone acetylation  retinol metabolic process  retinol metabolic process  retinal metabolic process  keratinocyte proliferation  oxidation-reduction process  
Pathways : KEGGRetinol metabolism   
NDEx NetworkSDR16C5
Atlas of Cancer Signalling NetworkSDR16C5
Wikipedia pathwaysSDR16C5
Orthology - Evolution
OrthoDB195814
GeneTree (enSembl)ENSG00000170786
Phylogenetic Trees/Animal Genes : TreeFamSDR16C5
HOVERGENQ8N3Y7
HOGENOMQ8N3Y7
Homologs : HomoloGeneSDR16C5
Homology/Alignments : Family Browser (UCSC)SDR16C5
Gene fusions - Rearrangements
Tumor Fusion PortalSDR16C5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSDR16C5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SDR16C5
dbVarSDR16C5
ClinVarSDR16C5
1000_GenomesSDR16C5 
Exome Variant ServerSDR16C5
ExAC (Exome Aggregation Consortium)ENSG00000170786
GNOMAD BrowserENSG00000170786
Genetic variants : HAPMAP195814
Genomic Variants (DGV)SDR16C5 [DGVbeta]
DECIPHERSDR16C5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSDR16C5 
Mutations
ICGC Data PortalSDR16C5 
TCGA Data PortalSDR16C5 
Broad Tumor PortalSDR16C5
OASIS PortalSDR16C5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSDR16C5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSDR16C5
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SDR16C5
DgiDB (Drug Gene Interaction Database)SDR16C5
DoCM (Curated mutations)SDR16C5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SDR16C5 (select a term)
intoGenSDR16C5
Cancer3DSDR16C5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608989   
Orphanet
DisGeNETSDR16C5
MedgenSDR16C5
Genetic Testing Registry SDR16C5
NextProtQ8N3Y7 [Medical]
TSGene195814
GENETestsSDR16C5
Target ValidationSDR16C5
Huge Navigator SDR16C5 [HugePedia]
snp3D : Map Gene to Disease195814
BioCentury BCIQSDR16C5
ClinGenSDR16C5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD195814
Chemical/Pharm GKB GenePA164725585
Clinical trialSDR16C5
Miscellaneous
canSAR (ICR)SDR16C5 (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSDR16C5
EVEXSDR16C5
GoPubMedSDR16C5
iHOPSDR16C5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:33:50 CET 2017

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