Atlas of Genetics and Cytogenetics in Oncology and Haematology


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DSP (desmoplakin)

Identity

Other namesDP
DPI
DPII
HGNC (Hugo) DSP
LocusID (NCBI) 1832
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 (Hinxton)ENSG00000096696 [Gene_View]  chr6:7541870-7586946 [Contig_View]  DSP [Vega]
ICGC DataPortalENSG00000096696
cBioPortalDSP
AceView (NCBI)DSP
Genatlas (Paris)DSP
WikiGenes1832
SOURCE (Princeton)NM_001008844 NM_004415
Genomic and cartography
GoldenPath (UCSC)DSP  -  6p24.3   chr6:7541870-7586946 +  6p24.3   [Description]    (hg19-Feb_2009)
EnsemblDSP - 6p24.3 [CytoView]
Mapping of homologs : NCBIDSP [Mapview]
OMIM125647   605676   607450   607655   609638   612908   
Gene and transcription
Genbank (Entrez)AB209992 AB621818 AF139065 AI304615 AK130229
RefSeq transcript (Entrez)NM_001008844 NM_004415
RefSeq genomic (Entrez)AC_000138 NC_000006 NC_018917 NG_008803 NT_007592 NW_001838973 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 ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP15924 (Uniprot)
NextProtP15924  [Medical]
With graphics : InterProP15924
Splice isoforms : SwissVarP15924 (Swissvar)
Domaine pattern : Prosite (Expaxy)SH3 (PS50002)   
Domains : Interpro (EBI)Plectin_repeat [organisation]   Spectrin/alpha-actinin [organisation]  
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 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP15924
HPRD00513
IPIIPI00013933   IPI00217182   IPI01009332   IPI00872333   IPI00746877   
Protein Interaction databases
DIP (DOE-UCLA)P15924
IntAct (EBI)P15924
FunCoupENSG00000096696
BioGRIDDSP
InParanoidP15924
Interologous Interaction database P15924
IntegromeDBDSP
STRING (EMBL)DSP
Ontologies - Pathways
Ontology : AmiGOcornified envelope  desmosome organization  ventricular compact myocardium morphogenesis  protein kinase C binding  structural molecule activity  structural constituent of cytoskeleton  protein binding  mitochondrion  intermediate filament  plasma membrane  plasma membrane  apoptotic process  cellular component disassembly involved in execution phase of apoptosis  epidermis development  intercalated disc  basolateral plasma membrane  cell-cell adhesion  peptide cross-linking  desmosome  keratinocyte differentiation  protein binding, bridging  adherens junction organization  intermediate filament organization  protein localization to adherens junction  regulation of ventricular cardiac muscle cell action potential  bundle of His cell to Purkinje myocyte communication  regulation of heart rate by cardiac conduction  scaffold protein binding  
Ontology : EGO-EBIcornified envelope  desmosome organization  ventricular compact myocardium morphogenesis  protein kinase C binding  structural molecule activity  structural constituent of cytoskeleton  protein binding  mitochondrion  intermediate filament  plasma membrane  plasma membrane  apoptotic process  cellular component disassembly involved in execution phase of apoptosis  epidermis development  intercalated disc  basolateral plasma membrane  cell-cell adhesion  peptide cross-linking  desmosome  keratinocyte differentiation  protein binding, bridging  adherens junction organization  intermediate filament organization  protein localization to adherens junction  regulation of ventricular cardiac muscle cell action potential  bundle of His cell to Purkinje myocyte communication  regulation of heart rate by cardiac conduction  scaffold protein binding  
Pathways : KEGGArrhythmogenic right ventricular cardiomyopathy (ARVC)   
Protein Interaction DatabaseDSP
Wikipedia pathwaysDSP
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)DSP
snp3D : Map Gene to Disease1832
SNP (GeneSNP Utah)DSP
SNP : HGBaseDSP
Genetic variants : HAPMAPDSP
Exome VariantDSP
1000_GenomesDSP 
ICGC programENSG00000096696 
Somatic Mutations in Cancer : COSMICDSP 
CONAN: Copy Number AnalysisDSP 
Mutations and Diseases : HGMDDSP
Genomic VariantsDSP  DSP [DGVbeta]
dbVarDSP
ClinVarDSP
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM125647    605676    607450    607655    609638    612908   
MedgenDSP
GENETestsDSP
Disease Genetic AssociationDSP
Huge Navigator DSP [HugePedia]  DSP [HugeCancerGEM]
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
PubMed117 Pubmed reference(s) in Entrez
CoreMineDSP
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
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jul 11 16:53:32 CEST 2014

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