PKP2 plakophilin 2 [Homo sapiens (human)]
| Gene Symbol | PKP2 |
| Entrez Gene ID | 5318 |
| Full Name | plakophilin 2 |
| Synonyms | ARVD9, MGC177501 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
12 12p11 |
| Summary | This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This gene product may regulate the signaling activity of beta-catenin. Two alternately spliced transcripts encoding two protein isoforms have been identified. A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13. [provided by RefSeq]. |
| Disorder | MIM: 602861 Arrhythmogenic right ventricular dysplasia, familial, 9, 609040 (3) |
| mRNA | NM_004572, 148664225 |
| Protein | NP_004563, 148664226 |
| Product | plakophilin-2 isoform 2b |
| RefSeq Status | REVIEWED |
| mRNA | NM_001005242, 148664185 |
| Protein | NP_001005242, 148664186 |
| Product | plakophilin-2 isoform 2a |
| RefSeq Status | REVIEWED |
| hsa05412 | Arrhythmogenic right ventricular cardiomyopathy (ARVC) |
| Homo sapiens (human) | PKP2 | NP_001005242.2 |
| Canis lupus familiaris (dog) | PKP2 | XP_543739.2 |
| Bos taurus (cattle) | PKP2 | NP_001077198.1 |
| Mus musculus (house mouse) | Pkp2 | NP_080439.1 |
| Rattus norvegicus (Norway rat) | Pkp2 | XP_213560.4 |
| Gallus gallus (chicken) | PKP2 | XP_416362.2 |
| Danio rerio (zebrafish) | pkp2 | NP_001106904.1 |
| ID | Name | Evidence |
| GO:0007507 | heart development | IEA |
| GO:0016337 | cell-cell adhesion | NAS |
Component
| ID | Name | Evidence |
| GO:0005634 | nucleus | NAS |
| GO:0005886 | plasma membrane | TAS |
| GO:0005911 | cell-cell junction | TAS |
| GO:0005912 | adherens junction | IEA |
| GO:0016021 | integral to membrane | TAS |
| GO:0030057 | desmosome | NAS |
Function
| ID | Name | Evidence |
| GO:0003674 | molecular_function | ND |
| GO:0005488 | binding | IEA |
Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.
 |
Secured Online Quotation |
 |
Email: gene@genscript.com |
 |
Phone: 1-877-436-7274 (Toll-Free) 1-732-885-9188 |
 |
Fax: 1-732-210-0262 1-732-885-5878 |