PKP2
entrez
5318
canonical
uniprot
Q99959
canonical
ensembl
ENSG00000057294
resolver
ensp
ENSP00000070846
resolver
ensp
ENSP00000342800
resolver
ensp
ENSP00000515065
resolver
ensp
ENSP00000519095
resolver
enst
ENST00000700559
resolver
enst
ENST00000700564
resolver
genesymbol
PKP2
resolver
hgnc
HGNC:9024
resolver
uniprot
A0A8V8TPU9
resolver
uniprot
A0AAQ5BGY2
resolver
uniprot
A0AV37
resolver
uniprot
B8QFA1
resolver
uniprot
B8QGS6
resolver
uniprot
B8QGS7
resolver
uniprot
D3DUW9
resolver
uniprot
Q4VC01
resolver
uniprot
Q99960
resolver
uniprot_entry
A0A8V8TPU9_HUMAN
resolver
uniprot_entry
A0AAQ5BGY2_HUMAN
resolver
uniprot_entry
PKP2_HUMAN
resolver
uniprot_sec
A0AV37
resolver
uniprot_sec
B8QFA1
resolver
uniprot_sec
B8QGS6
resolver
uniprot_sec
B8QGS7
resolver
uniprot_sec
D3DUW9
resolver
uniprot_sec
Q4VC01
resolver
uniprot_sec
Q99960
resolver
amino_acid_sequence
MAAPGAPAEYGYIRTVLGQQILGQLDSSSLALPSEAKLKLAGSSGRGGQTVKSLRIQEQVQQTLARKGRSSVGNGNLHRTSSVPEYVYNLHLVENDFVGGRSPVPKTYDMLKAGTTATYEGRWGRGTAQYSSQKSVEERSLRHPLRRLEISPDSSPERAHYTHSDYQYSQRSQAGHTLHHQESRRAALLVPPRYARSEIVGVSRAGTTSRQRHFDTYHRQYQHGSVSDTVFDSIPANPALLTYPRPGTSRSMGNLLEKENYLTAGLTVGQVRPLVPLQPVTQNRASRSSWHQSSFHSTRTLREAGPSVAVDSSGRRAHLTVGQAAAGGSGNLLTERSTFTDSQLGNADMEMTLERAVSMLEADHMLPSRISAAATFIQHECFQKSEARKRVNQLRGILKLLQLLKVQNEDVQRAVCGALRNLVFEDNDNKLEVAELNGVPRLLQVLKQTRDLETKKQITDHTVNLRSRNGWPGAVAHACNPSTLGGQGGRITRSGVRDQPDQHGLLWNLSSNDKLKNLMITEALLTLTENIIIPFSGWPEGDYPKANGLLDFDIFYNVTGCLRNMSSAGADGRKAMRRCDGLIDSLVHYVRGTIADYQPDDKATENCVCILHNLSYQLEAELPEKYSQNIYIQNRNIQTDNNKSIGCFGSRSRKVKEQYQDVPMPEEKSNPKGVEWLWHSIVIRMYLSLIAKSVRNYTQEASLGALQNLTAGSGPMPTSVAQTVVQKESGLQHTRKMLHVGDPSVKKTAISLLRNLSRNLSLQNEIAKETLPDLVSIIPDTVPSTDLLIETTASACYTLNNIIQNSYQNARDLLNTGGIQKIMAISAGDAYASNKASKAASVLLYSLWAHTELHHAYKKAQFKKTDFVNSRTAKAYHSLKD
uniprot
proteins
disease_involvement
DISEASE: Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9) [MIM:609040]: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. {ECO:0000269|PubMed:15489853, ECO:0000269|PubMed:18662195, ECO:0000269|PubMed:19533476, ECO:0000269|PubMed:19863551, ECO:0000269|PubMed:19955750, ECO:0000269|PubMed:20031617, ECO:0000269|PubMed:22781308, ECO:0000269|PubMed:30391969, ECO:0000269|PubMed:30678776, ECO:0000269|PubMed:34191271, ECO:0000269|PubMed:35959657}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion (PubMed:25208567). Regulates focal adhesion turnover resulting in changes in focal adhesion size, cell adhesion and cell spreading, potentially via transcriptional modulation of beta-integrins (PubMed:23884246). Required to maintain gingival epithelial barrier function (PubMed:34368962). Important component of the desmosome that is also required for localization of desmosome component proteins such as DSC2, DSG2 and JUP to the desmosome cell-cell junction (PubMed:22781308, PubMed:25208567). Required for the formation of desmosome cell junctions in cardiomyocytes, thereby required for the correct formation of the heart, specifically trabeculation and formation of the atria walls (By similarity). Loss of desmosome cell junctions leads to mis-localization of DSP and DSG2 resulting in disruption of cell-cell adhesion and disordered intermediate filaments (By similarity). Modulates profibrotic gene expression in cardiomyocytes via regulation of DSP expression and subsequent activation of downstream TGFB1 and MAPK14/p38 MAPK signaling (By similarity). Required for cardiac sodium current propagation and electrical synchrony in cardiac myocytes, via ANK3 stabilization and modulation of SCN5A/Nav1.5 localization to cell-cell junctions (By similarity). Required for mitochondrial function, nuclear envelope integrity and positive regulation of SIRT3 transcription via maintaining DES localization at its nuclear envelope and cell tip anchoring points, and thereby preserving regulation of the transcriptional program (PubMed:35959657). Maintenance of nuclear envelope integrity protects against DNA damage and transcriptional dysregulation of genes, especially those involved in the electron transport chain, thereby preserving mitochondrial function and protecting against superoxide radical anion generation (PubMed:35959657). Binds single-stranded DNA (ssDNA) (PubMed:20613778). May regulate the localization of GJA1 to gap junctions in intercalated disks of the heart (PubMed:18662195). Involved in the inhibition of viral infection by influenza A viruses (IAV) (PubMed:28169297). Acts as a host restriction factor for IAV viral propagation, potentially via disrupting the interaction of IAV polymerase complex proteins (PubMed:28169297). {ECO:0000250|UniProtKB:F1M7L9, ECO:0000250|UniProtKB:Q9CQ73, ECO:0000269|PubMed:18662195, ECO:0000269|PubMed:20613778, ECO:0000269|PubMed:22781308, ECO:0000269|PubMed:23884246, ECO:0000269|PubMed:25208567, ECO:0000269|PubMed:28169297, ECO:0000269|PubMed:34368962, ECO:0000269|PubMed:35959657}.
uniprot
proteins
mass_dalton
97415
uniprot
proteins
mutagenesis
MUTAGEN 82; /note="S->A: Abolishes phosphorylation by MARK3."; /evidence="ECO:0000269|PubMed:12941695"; MUTAGEN 87; /note="V->A: Reduces phosphorylation of S-82 by MARK3. Reduces interaction with MARK3."; /evidence="ECO:0000269|PubMed:12941695
uniprot
proteins
protein_family
Beta-catenin family
uniprot
proteins
pubmed
10374264
uniprot
proteins
pubmed
10852826
uniprot
proteins
pubmed
11416169
uniprot
proteins
pubmed
11790773
uniprot
proteins
pubmed
12941695
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15489853
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
17535849
uniprot
proteins
pubmed
18662195
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
19533476
uniprot
proteins
pubmed
19863551
uniprot
proteins
pubmed
19955750
uniprot
proteins
pubmed
20031617
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20613778
uniprot
proteins
pubmed
20859650
uniprot
proteins
pubmed
21062920
uniprot
proteins
pubmed
21378009
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22781308
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23884246
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25208567
uniprot
proteins
pubmed
28169297
uniprot
proteins
pubmed
30391969
uniprot
proteins
pubmed
30678776
uniprot
proteins
pubmed
31845994
uniprot
proteins
pubmed
34191271
uniprot
proteins
pubmed
34368962
uniprot
proteins
pubmed
35959657
uniprot
proteins
pubmed
8922383
uniprot
proteins
sequence_length
881
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11416169, ECO:0000269|PubMed:11790773, ECO:0000269|PubMed:20613778, ECO:0000269|PubMed:22781308, ECO:0000269|PubMed:28169297, ECO:0000269|PubMed:34368962}. Cell junction, desmosome {ECO:0000269|PubMed:19533476, ECO:0000269|PubMed:20613778, ECO:0000269|PubMed:20859650, ECO:0000269|PubMed:22781308, ECO:0000269|PubMed:23884246, ECO:0000269|PubMed:25208567, 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}.
uniprot
proteins