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DSP (desmoplakin)

Identity

Other namesDCWHKTA
DP
DPI
DPII
HGNC (Hugo) DSP
LocusID (NCBI) 1832
Atlas_Id 45936
Location 6p24.3
Location_base_pair Starts at 7541870 and ends at 7586946 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)DSP   3052
Cards
Entrez_Gene (NCBI)DSP  1832  desmoplakin
GeneCards (Weizmann)DSP
Ensembl hg19 (Hinxton)ENSG00000096696 [Gene_View]  chr6:7541870-7586946 [Contig_View]  DSP [Vega]
Ensembl hg38 (Hinxton)ENSG00000096696 [Gene_View]  chr6:7541870-7586946 [Contig_View]  DSP [Vega]
ICGC DataPortalENSG00000096696
TCGA cBioPortalDSP
AceView (NCBI)DSP
Genatlas (Paris)DSP
WikiGenes1832
SOURCE (Princeton)DSP
Genomic and cartography
GoldenPath hg19 (UCSC)DSP  -     chr6:7541870-7586946 +  6p24.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)DSP  -     6p24.3   [Description]    (hg38-Dec_2013)
EnsemblDSP - 6p24.3 [CytoView hg19]  DSP - 6p24.3 [CytoView hg38]
Mapping of homologs : NCBIDSP [Mapview hg19]  DSP [Mapview hg38]
OMIM125647   605676   607450   607655   609638   612908   615821   
Gene and transcription
Genbank (Entrez)AB209992 AB621818 AF139065 AI304615 AK130229
RefSeq transcript (Entrez)NM_001008844 NM_004415
RefSeq genomic (Entrez)NC_000006 NC_018917 NG_008803 NT_007592 NW_004929326
Consensus coding sequences : CCDS (NCBI)DSP
Cluster EST : UnigeneHs.519873 [ NCBI ]
CGAP (NCI)Hs.519873
Alternative Splicing : Fast-db (Paris)GSHG0025407
Alternative Splicing GalleryENSG00000096696
Gene ExpressionDSP [ NCBI-GEO ]     DSP [ SEEK ]   DSP [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP15924 (Uniprot)
NextProtP15924  [Medical]  [Publications]
With graphics : InterProP15924
Splice isoforms : SwissVarP15924 (Swissvar)
Domains : Interpro (EBI)Desmoplakin    Plectin_repeat    Spectrin/alpha-actinin   
Related proteins : CluSTrP15924
Domain families : Pfam (Sanger)Plectin (PF00681)   
Domain families : Pfam (NCBI)pfam00681   
Domain families : Smart (EMBL)PLEC (SM00250)  SPEC (SM00150)  
DMDM Disease mutations1832
Blocks (Seattle)P15924
PDB (SRS)1LM5    1LM7    3R6N   
PDB (PDBSum)1LM5    1LM7    3R6N   
PDB (IMB)1LM5    1LM7    3R6N   
PDB (RSDB)1LM5    1LM7    3R6N   
Human Protein AtlasENSG00000096696
Peptide AtlasP15924
HPRD00513
IPIIPI00013933   IPI00217182   IPI01009332   IPI00872333   IPI00746877   
Protein Interaction databases
DIP (DOE-UCLA)P15924
IntAct (EBI)P15924
FunCoupENSG00000096696
BioGRIDDSP
IntegromeDBDSP
STRING (EMBL)DSP
Ontologies - Pathways
QuickGOP15924
Ontology : AmiGOcornified envelope  desmosome organization  ventricular compact myocardium morphogenesis  protein kinase C binding  structural molecule activity  structural constituent of cytoskeleton  protein binding  nucleus  mitochondrion  intermediate filament  plasma membrane  plasma membrane  fascia adherens  apoptotic process  cellular component disassembly involved in execution phase of apoptosis  epidermis development  programmed cell death  intercalated disc  basolateral plasma membrane  peptide cross-linking  desmosome  keratinocyte differentiation  protein binding, bridging  adherens junction organization  wound healing  poly(A) RNA binding  intermediate filament organization  cell adhesion molecule binding  extracellular exosome  protein localization to adherens junction  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  scaffold protein binding  regulation of ventricular cardiac muscle cell action potential  
Ontology : EGO-EBIcornified envelope  desmosome organization  ventricular compact myocardium morphogenesis  protein kinase C binding  structural molecule activity  structural constituent of cytoskeleton  protein binding  nucleus  mitochondrion  intermediate filament  plasma membrane  plasma membrane  fascia adherens  apoptotic process  cellular component disassembly involved in execution phase of apoptosis  epidermis development  programmed cell death  intercalated disc  basolateral plasma membrane  peptide cross-linking  desmosome  keratinocyte differentiation  protein binding, bridging  adherens junction organization  wound healing  poly(A) RNA binding  intermediate filament organization  cell adhesion molecule binding  extracellular exosome  protein localization to adherens junction  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  scaffold protein binding  regulation of ventricular cardiac muscle cell action potential  
Pathways : KEGGArrhythmogenic right ventricular cardiomyopathy (ARVC)   
Protein Interaction DatabaseDSP
DoCM (Curated mutations)DSP
Wikipedia pathwaysDSP
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerDSP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DSP
dbVarDSP
ClinVarDSP
1000_GenomesDSP 
Exome Variant ServerDSP
SNP (GeneSNP Utah)DSP
SNP : HGBaseDSP
Genetic variants : HAPMAPDSP
Genomic Variants (DGV)DSP [DGVbeta]
Mutations
ICGC Data PortalDSP 
TCGA Data PortalDSP 
Tumor PortalDSP
Somatic Mutations in Cancer : COSMICDSP 
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)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
LOVD (Leiden Open Variation Database)ARVD/C Genetic Variants Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)6:7541870-7586946
CONAN: Copy Number AnalysisDSP 
Mutations and Diseases : HGMDDSP
OMIM125647    605676    607450    607655    609638    612908    615821   
MedgenDSP
NextProtP15924 [Medical]
GENETestsDSP
Disease Genetic AssociationDSP
Huge Navigator DSP [HugePedia]  DSP [HugeCancerGEM]
snp3D : Map Gene to Disease1832
DGIdb (Drug Gene Interaction db)DSP
BioCentury BCIQDSP
General knowledge
Homologs : HomoloGeneDSP
Homology/Alignments : Family Browser (UCSC)DSP
Phylogenetic Trees/Animal Genes : TreeFamDSP
Chemical/Protein Interactions : CTD1832
Chemical/Pharm GKB GenePA27505
Clinical trialDSP
Cancer Resource (Charite)ENSG00000096696
Other databases
Probes
Litterature
PubMed137 Pubmed reference(s) in Entrez
CoreMineDSP
GoPubMedDSP
iHOPDSP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jun 27 11:29:16 CEST 2015

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