full name
desmoplakin

synonyms
DP, DPI, DPII, DSP, ENSG00000096696

HGNC
HGNC:3052

Entrez Gene
Gene:1832

ENSEMBL
ENSG00000096696

location
chr: 6
start: 7541808
stop: 7586946
strand: +

OMIM
OMIM:125647: DSP (Autosomal dominant inheritance,Heterogeneous)
OMIM:607450: Arrhythmogenic right ventricular dysplasia 8
OMIM:605676: Cardiomyopathy, dilated, with woolly hair and keratoderma
OMIM:615821: Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis
OMIM:609638: Epidermolysis bullosa, lethal acantholytic
OMIM:612908: Keratosis palmoplantaris striata II
OMIM:607655: Skin fragility-woolly hair syndrome

transcripts
ENST00000379802.3
ENST00000418664.2

pathways
Apoptosis [NCBI:83060] [KEGG:hsa04210] [NCBI:1270262] [REACTOME:R-HSA-109581] [PUBMED:12189384] [PUBMED:20533903] [PUBMED:18208375] [PUBMED:22429822] [PUBMED:15218528] [PUBMED:24769728] [PUBMED:18023214] [PUBMED:25526085] [PUBMED:23070002] [PUBMED:15654015] [PUBMED:15601572] [PUBMED:14561771] [PUBMED:24278747] [PUBMED:21914490] [PUBMED:22465226] [PUBMED:21145844] [PUBMED:12838338] [PUBMED:18238895] [PUBMED:12949498] [PUBMED:18304445] [PUBMED:14737178] [PUBMED:26231733] [PUBMED:9916983] [PUBMED:14634621] [PUBMED:19770840] [PUBMED:22075987] [PUBMED:4561027] [PUBMED:20075940] [PUBMED:9894605] [PUBMED:26615431] [PUBMED:12505355] [PUBMED:11520933] [PUBMED:19148180] [PUBMED:16397578] [PUBMED:15719025] [PUBMED:15322527] [PUBMED:15725726] [PUBMED:12209154] [PUBMED:23803157]
Apoptotic cleavage of cell adhesion proteins [NCBI:1270290] [REACTOME:R-HSA-351906] [PUBMED:11500511] [PUBMED:16286477] [PUBMED:17559062]
Apoptotic cleavage of cellular proteins [NCBI:1270288] [REACTOME:R-HSA-111465] [PUBMED:17254298] [PUBMED:17599937] [PUBMED:12655297]
Apoptotic execution phase [NCBI:1270287] [REACTOME:R-HSA-75153] [PUBMED:12655297]
Arrhythmogenic right ventricular cardiomyopathy (ARVC) [NCBI:117293] [KEGG:hsa05412] [PUBMED:16823481] [PUBMED:19205777] [PUBMED:11716909] [PUBMED:12270949] [PUBMED:18382419] [PUBMED:16101641] [PUBMED:16124859] [PUBMED:17413274]
Developmental Biology [NCBI:1270302] [REACTOME:R-HSA-1266738]
Formation of the cornified envelope [NCBI:1457791] [REACTOME:R-HSA-6809371] [PUBMED:15803139]
Immune System [NCBI:1269170] [REACTOME:R-HSA-168256]
Innate Immune System [NCBI:1269203] [REACTOME:R-HSA-168249]
Keratinization [NCBI:1457790] [REACTOME:R-HSA-6805567] [PUBMED:18461349]
Neutrophil degranulation [NCBI:1457780] [REACTOME:R-HSA-6798695] [PUBMED:20338884] [PUBMED:1378856] [PUBMED:17627888] [PUBMED:23650620] [PUBMED:8692836]
Programmed Cell Death [NCBI:1270261] [REACTOME:R-HSA-5357801] [PUBMED:25236395]