Gene Symbol |
PKP2
|
Entrez Gene |
5318
|
Alt Symbol |
ARVD9
|
Species |
Human
|
Gene Type |
protein-coding
|
Description |
plakophilin 2
|
Other Description |
plakophilin-2
|
Swissprots |
B8QFA1 B8QGS7 Q99959 B8QGS6 D3DUW9 Q99960 A0AV37 Q4VC01
|
Accessions |
ACD03459 EAW88511 EAW88512 EAW88513 EAW88514 EAW88515 EAW88516 Q99959 AK299139 BAG61191 AU125826 AW439621 BC070083 BC094762 AAH94762 BC126199 AAI26200 BC143966 AAI43967 BC143967 BX956935 DB454360 EU520483 ACD13292 EU520484 ACD13293 EU520485 ACD13294 EU520486 ACD13295 HQ258660 ADR83411 X97675 CAA66264 NM_001005242 NP_001005242 NM_004572 NP_004563
|
Function |
May play a role in junctional plaques. {ECO:0000269|PubMed:22781308}.
|
Subcellular Location |
Nucleus {ECO:0000269|PubMed:22781308}. Cell junction, desmosome {ECO:0000269|PubMed:22781308}. Note=Nuclear and associated with desmosomes.
|
Tissue Specificity |
Detected in heart right ventricle (at protein level). Widely expressed. Found at desmosomal plaques in simple and stratified epithelia and in non-epithelial tissues such as myocardium and lymph node follicles. In most stratified epithelia found in the desmosomes of the basal cell layer and seems to be absent from suprabasal strata. {ECO:0000269|PubMed:10374264, ECO:0000269|PubMed:22781308}.
|
Top Pathways |
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
|