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DSC2 (desmocollin 2)

Identity

Other namesARVD11
CDHF2
DG2
DGII/III
DSC3
HGNC (Hugo) DSC2
LocusID (NCBI) 1824
Atlas_Id 46039
Location 18q12.1
Location_base_pair Starts at 28645940 and ends at 28682395 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
DSC2 (18q12.1) / DSC2 (18q12.1)EEF1E1 (6p24.3) / DSC2 (18q12.1)

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)DSC2   3036
Cards
Entrez_Gene (NCBI)DSC2  1824  desmocollin 2
AliasesARVD11; CDHF2; DG2; DGII/III; 
DSC3
GeneCards (Weizmann)DSC2
Ensembl hg19 (Hinxton)ENSG00000134755 [Gene_View]  chr18:28645940-28682395 [Contig_View]  DSC2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000134755 [Gene_View]  chr18:28645940-28682395 [Contig_View]  DSC2 [Vega]
ICGC DataPortalENSG00000134755
TCGA cBioPortalDSC2
AceView (NCBI)DSC2
Genatlas (Paris)DSC2
WikiGenes1824
SOURCE (Princeton)DSC2
Genomic and cartography
GoldenPath hg19 (UCSC)DSC2  -     chr18:28645940-28682395 -  18q12.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)DSC2  -     18q12.1   [Description]    (hg38-Dec_2013)
EnsemblDSC2 - 18q12.1 [CytoView hg19]  DSC2 - 18q12.1 [CytoView hg38]
Mapping of homologs : NCBIDSC2 [Mapview hg19]  DSC2 [Mapview hg38]
OMIM125645   610476   
Gene and transcription
Genbank (Entrez)AK290313 AK297029 BC063291 BE350090 BE813598
RefSeq transcript (Entrez)NM_004949 NM_024422
RefSeq genomic (Entrez)NC_000018 NC_018929 NG_008208 NT_010966 NW_004929410
Consensus coding sequences : CCDS (NCBI)DSC2
Cluster EST : UnigeneHs.95612 [ NCBI ]
CGAP (NCI)Hs.95612
Alternative Splicing GalleryENSG00000134755
Gene ExpressionDSC2 [ NCBI-GEO ]   DSC2 [ EBI - ARRAY_EXPRESS ]   DSC2 [ SEEK ]   DSC2 [ MEM ]
Gene Expression Viewer (FireBrowse)DSC2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1824
GTEX Portal (Tissue expression)DSC2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ02487 (Uniprot)
NextProtQ02487  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ02487
Splice isoforms : SwissVarQ02487 (Swissvar)
PhosPhoSitePlusQ02487
Domaine pattern : Prosite (Expaxy)CADHERIN_1 (PS00232)    CADHERIN_2 (PS50268)   
Domains : Interpro (EBI)Cadherin    Cadherin-like    Cadherin_CS    Cadherin_cytoplasmic-dom    Cadherin_pro_dom    Catenin_binding_dom    Desmosomal_cadherin   
Domain families : Pfam (Sanger)Cadherin (PF00028)    Cadherin_C (PF01049)    Cadherin_pro (PF08758)   
Domain families : Pfam (NCBI)pfam00028    pfam01049    pfam08758   
Domain families : Smart (EMBL)CA (SM00112)  Cadherin_pro (SM01055)  
DMDM Disease mutations1824
Blocks (Seattle)DSC2
SuperfamilyQ02487
Human Protein AtlasENSG00000134755
Peptide AtlasQ02487
HPRD00512
IPIIPI00025846   IPI00220146   IPI00941287   IPI01009989   
Protein Interaction databases
DIP (DOE-UCLA)Q02487
IntAct (EBI)Q02487
FunCoupENSG00000134755
BioGRIDDSC2
STRING (EMBL)DSC2
ZODIACDSC2
Ontologies - Pathways
QuickGOQ02487
Ontology : AmiGOcalcium ion binding  protein binding  plasma membrane  cell-cell adherens junction  cell adhesion  homophilic cell adhesion via plasma membrane adhesion molecules  cellular response to starvation  intercalated disc  integral component of membrane  desmosome  cytoplasmic vesicle  extracellular exosome  cardiac muscle cell-cardiac muscle cell adhesion  bundle of His cell-Purkinje myocyte adhesion involved in cell communication  cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication  regulation of heart rate by cardiac conduction  regulation of ventricular cardiac muscle cell action potential  
Ontology : EGO-EBIcalcium ion binding  protein binding  plasma membrane  cell-cell adherens junction  cell adhesion  homophilic cell adhesion via plasma membrane adhesion molecules  cellular response to starvation  intercalated disc  integral component of membrane  desmosome  cytoplasmic vesicle  extracellular exosome  cardiac muscle cell-cardiac muscle cell adhesion  bundle of His cell-Purkinje myocyte adhesion involved in cell communication  cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication  regulation of heart rate by cardiac conduction  regulation of ventricular cardiac muscle cell action potential  
Pathways : KEGGArrhythmogenic right ventricular cardiomyopathy (ARVC)   
NDEx Network
Atlas of Cancer Signalling NetworkDSC2
Wikipedia pathwaysDSC2
Orthology - Evolution
OrthoDB1824
GeneTree (enSembl)ENSG00000134755
Phylogenetic Trees/Animal Genes : TreeFamDSC2
Homologs : HomoloGeneDSC2
Homology/Alignments : Family Browser (UCSC)DSC2
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerDSC2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DSC2
dbVarDSC2
ClinVarDSC2
1000_GenomesDSC2 
Exome Variant ServerDSC2
ExAC (Exome Aggregation Consortium)DSC2 (select the gene name)
Genetic variants : HAPMAP1824
Genomic Variants (DGV)DSC2 [DGVbeta]
Mutations
ICGC Data PortalDSC2 
TCGA Data PortalDSC2 
Broad Tumor PortalDSC2
OASIS PortalDSC2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDSC2 
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)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
LOVD (Leiden Open Variation Database)ARVD/C Genetic Variants Database
BioMutasearch DSC2
DgiDB (Drug Gene Interaction Database)DSC2
DoCM (Curated mutations)DSC2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DSC2 (select a term)
intoGenDSC2
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)18:28645940-28682395  ENSG00000134755
CONAN: Copy Number AnalysisDSC2 
Mutations and Diseases : HGMDDSC2
OMIM125645    610476   
MedgenDSC2
Genetic Testing Registry DSC2
NextProtQ02487 [Medical]
TSGene1824
GENETestsDSC2
Huge Navigator DSC2 [HugePedia]
snp3D : Map Gene to Disease1824
BioCentury BCIQDSC2
ClinGenDSC2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1824
Chemical/Pharm GKB GenePA27489
Clinical trialDSC2
Miscellaneous
canSAR (ICR)DSC2 (select the gene name)
Probes
Litterature
PubMed73 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDSC2
EVEXDSC2
GoPubMedDSC2
iHOPDSC2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat May 28 11:00:52 CEST 2016

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