Full name: desmoplakin

Gene type: protein coding

RefSeq status: VALIDATED

Also known as: 2300002E22Rik; 5730453H04Rik; DP; rul

Summary: Predicted to enable protein kinase C binding activity; scaffold protein binding activity; and structural molecule activity. Involved in several processes, including desmosome organization; intermediate filament organization; and ventricular compact myocardium morphogenesis. Acts upstream of or within several processes, including adherens junction organization; intermediate filament cytoskeleton organization; and skin development. Located in basolateral plasma membrane; desmosome; and intercalated disc. Colocalizes with intermediate filament. Is expressed in several structures, including alimentary system; extraembryonic component; genitourinary system; heart; and sensory organ. Used to study Carvajal syndrome and arrhythmogenic right ventricular dysplasia 8. Human ortholog(s) of this gene implicated in Carvajal syndrome; arrhythmogenic right ventricular cardiomyopathy; arrhythmogenic right ventricular dysplasia 8; and dilated cardiomyopathy. Orthologous to human DSP (desmoplakin). [provided by Alliance of Genome Resources, Apr 2022]

Expression: Biased expression in heart adult (RPKM 33.4), placenta adult (RPKM 16.3) and 14 other tissues

Gene size: 47284bp

Exon count: 24