| Gene Information | |
|---|---|
| Gene Name | PKP2 |
| Organism | Homo sapiens (Human) |
| Gene Length | 881 |
| Protein Names | Plakophilin-2 |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 987 ( ENSG00000057294 ) |
| Evolutionary Stage | Vertebrata |
| AlphaFoldDB | Q99959 |
| Gene Card | PKP2 |
| Uniprot ID | Q99959 |
| Pfam | PF00514 |
| In ASD | no |
| Allosteric Prediction | no (-0.092003757) |
| Ortholog in Animals | Alpaca_ PKP2 ( ortholog_one2one ) Dog_ PKP2 ( ortholog_one2one ) GuineaPig_ PKP2 ( ortholog_one2one ) Macaque_ PKP2 ( ortholog_one2one ) Mouse_ Pkp2 ( ortholog_one2one ) Pig_ PKP2 ( ortholog_one2one ) Rat_ Pkp2 ( ortholog_one2one ) Rabbit_ PKP2 ( ortholog_one2one ) |
| Ohnologs | PKP1, PKP3 |
| Paralogs | CTNND1, PKP1, PKP3, ARVCF, PKP4, CTNND2 |
| Tissue | pulmonary.valve |
| Tissue Specificity | Detected in heart right ventricle (at protein level). Expressed in gingival epithelial, endothelial and fibroblast cells (at protein level) (PubMed:34368962). Faintly expressed in tracheal epithelial cells (at protein level) (PubMed:28169297). 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, ECO:0000269|PubMed:28169297, ECO:0000269|PubMed:34368962}.; (Microbial infection) Abundantly expressed in tracheal epithelial cells following influenza A virus infection (at protein level). {ECO:0000269|PubMed:28169297}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 3TT9 (X-ray 1.55A ) |
| DBSNP | rs143004808 rs146708884 rs730880179 rs199601548 rs75909145 rs1201224837 rs781739949 rs150821281 rs139139859 rs1041783952 rs201944276 rs139851304 rs1046116 rs200586695 rs397516990 rs111450489 rs149930872 rs146882581 rs147240502 rs146102241 rs1060501186 rs1060501183 rs1319690519 rs1426480515 rs1462688980 rs794729098 |
| Subcellular location [CC] | Nucleus {ECO:0000269|PubMed:11416169, ECO:0000269|PubMed:11790773, ECO:0000269|PubMed:22781308, ECO:0000269|PubMed:28169297, ECO:0000269|PubMed:34368962}. Cell junction, desmosome {ECO:0000269|PubMed:19533476, ECO:0000269|PubMed:22781308, ECO:0000269|PubMed:23884246, ECO:0000269|PubMed:34368962}. Cell junction {ECO:0000269|PubMed:28169297}. Cytoplasm {ECO:0000269|PubMed:34368962}. Note=Colocalizes with CTNNA3 and SCN5A/Nav1.5 at intercalated disks in the heart. {ECO:0000250|UniProtKB:Q9CQ73}. |
| Mouse PG classification | HPG |
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