• Gene id: 5318

Gene Summary

• Gene Symbol: PKP2   Gene   UCSC   Ensembl
• Aliases: ARVD9
• Gene name: plakophilin 2
• Alternate names: plakophilin-2,
• Gene location: 12p11.21 (32896845: 32790745)     Exons: 14     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 607642

Protein Summary

• Protein general information: Q99959  
  • Name: Plakophilin 2
  • Length: 881  
  • Mass: 97415
  • 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 epithe
• Sequence:

  MAAPGAPAEYGYIRTVLGQQILGQLDSSSLALPSEAKLKLAGSSGRGGQTVKSLRIQEQVQQTLARKGRSSVGNG
  NLHRTSSVPEYVYNLHLVENDFVGGRSPVPKTYDMLKAGTTATYEGRWGRGTAQYSSQKSVEERSLRHPLRRLEI
  SPDSSPERAHYTHSDYQYSQRSQAGHTLHHQESRRAALLVPPRYARSEIVGVSRAGTTSRQRHFDTYHRQYQHGS
  VSDTVFDSIPANPALLTYPRPGTSRSMGNLLEKENYLTAGLTVGQVRPLVPLQPVTQNRASRSSWHQSSFHSTRT
  LREAGPSVAVDSSGRRAHLTVGQAAAGGSGNLLTERSTFTDSQLGNADMEMTLERAVSMLEADHMLPSRISAAAT
  FIQHECFQKSEARKRVNQLRGILKLLQLLKVQNEDVQRAVCGALRNLVFEDNDNKLEVAELNGVPRLLQVLKQTR
  DLETKKQITDHTVNLRSRNGWPGAVAHACNPSTLGGQGGRITRSGVRDQPDQHGLLWNLSSNDKLKNLMITEALL
  TLTENIIIPFSGWPEGDYPKANGLLDFDIFYNVTGCLRNMSSAGADGRKAMRRCDGLIDSLVHYVRGTIADYQPD
  DKATENCVCILHNLSYQLEAELPEKYSQNIYIQNRNIQTDNNKSIGCFGSRSRKVKEQYQDVPMPEEKSNPKGVE
  WLWHSIVIRMYLSLIAKSVRNYTQEASLGALQNLTAGSGPMPTSVAQTVVQKESGLQHTRKMLHVGDPSVKKTAI
  SLLRNLSRNLSLQNEIAKETLPDLVSIIPDTVPSTDLLIETTASACYTLNNIIQNSYQNARDLLNTGGIQKIMAI
  SAGDAYASNKASKAASVLLYSLWAHTELHHAYKKAQFKKTDFVNSRTAKAYHSLKD

• Structural information:
  • Interpro: IPR016024  IPR000225  IPR028435  
  • Prosite: PS50176
  • PDB: 3TT9
  • PDBsum: 3TT9
  • STRING: ENSP00000070846
• Other Databases: GeneCards:  PKP2  Malacards:  PKP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005080	protein kinase C binding	IBA	molecular function
GO:0005911	cell-cell junction	IBA	cellular component
GO:0005912	adherens junction	IBA	cellular component
GO:0014704	intercalated disc	IBA	cellular component
GO:0045294	alpha-catenin binding	IBA	molecular function
GO:0045296	cadherin binding	IBA	molecular function
GO:0072659	protein localization to plasma membrane	IBA	biological process
GO:0098609	cell-cell adhesion	IBA	biological process
GO:0002934	desmosome organization	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005882	intermediate filament	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0007043	cell-cell junction assembly	IBA	biological process
GO:0007507	heart development	IBA	biological process
GO:0019215	intermediate filament binding	IBA	molecular function
GO:0045110	intermediate filament bundle assembly	IBA	biological process
GO:0060090	molecular adaptor activity	IBA	molecular function
GO:0086019	cell-cell signaling involved in cardiac conduction	IBA	biological process
GO:0098609	cell-cell adhesion	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:0005911	cell-cell junction	TAS	cellular component
GO:0001533	cornified envelope	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0031424	keratinization	TAS	biological process
GO:0070268	cornification	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0098609	cell-cell adhesion	IEA	biological process
GO:0030057	desmosome	IEA	cellular component
GO:0014704	intercalated disc	IEA	cellular component
GO:0005911	cell-cell junction	IEA	cellular component
GO:0007507	heart development	IEA	biological process
GO:0005882	intermediate filament	IEA	cellular component
GO:0005080	protein kinase C binding	IPI	molecular function
GO:0044325	ion channel binding	ISS	molecular function
GO:0019215	intermediate filament binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0017080	sodium channel regulator activity	ISS	molecular function
GO:0060090	molecular adaptor activity	IMP	molecular function
GO:0086083	cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication	IC	molecular function
GO:0045294	alpha-catenin binding	IPI	molecular function
GO:0045296	cadherin binding	HDA	molecular function
GO:0002159	desmosome assembly	IMP	biological process
GO:0005911	cell-cell junction	ISS	cellular component
GO:0010765	positive regulation of sodium ion transport	ISS	biological process
GO:0014704	intercalated disc	ISS	cellular component
GO:0098609	cell-cell adhesion	ISS	biological process
GO:0030057	desmosome	ISS	cellular component
GO:0055010	ventricular cardiac muscle tissue morphogenesis	IMP	biological process
GO:0086002	cardiac muscle cell action potential involved in contraction	IMP	biological process
GO:0086005	ventricular cardiac muscle cell action potential	IMP	biological process
GO:0098911	regulation of ventricular cardiac muscle cell action potential	IMP	biological process
GO:0086073	bundle of His cell-Purkinje myocyte adhesion involved in cell communication	IMP	biological process
GO:0005882	intermediate filament	ISS	cellular component
GO:0007507	heart development	ISS	biological process
GO:0045110	intermediate filament bundle assembly	IMP	biological process
GO:0048496	maintenance of animal organ identity	IMP	biological process
GO:0086019	cell-cell signaling involved in cardiac conduction	IMP	biological process
GO:0086064	cell communication by electrical coupling involved in cardiac conduction	ISS	biological process
GO:0086091	regulation of heart rate by cardiac conduction	IMP	biological process
GO:0086091	regulation of heart rate by cardiac conduction	IMP	biological process
GO:0014704	intercalated disc	IDA	cellular component
GO:0072659	protein localization to plasma membrane	IMP	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0030057	desmosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:1990124	messenger ribonucleoprotein complex	IDA	NOT|cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005634	nucleus	NAS	cellular component
GO:0030057	desmosome	NAS	cellular component
GO:0098609	cell-cell adhesion	NAS	biological process
GO:0005080	protein kinase C binding	IBA	molecular function
GO:0005911	cell-cell junction	IBA	cellular component
GO:0005912	adherens junction	IBA	cellular component
GO:0014704	intercalated disc	IBA	cellular component
GO:0045294	alpha-catenin binding	IBA	molecular function
GO:0045296	cadherin binding	IBA	molecular function
GO:0072659	protein localization to plasma membrane	IBA	biological process
GO:0098609	cell-cell adhesion	IBA	biological process
GO:0002934	desmosome organization	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005882	intermediate filament	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0007043	cell-cell junction assembly	IBA	biological process
GO:0007507	heart development	IBA	biological process
GO:0019215	intermediate filament binding	IBA	molecular function
GO:0045110	intermediate filament bundle assembly	IBA	biological process
GO:0060090	molecular adaptor activity	IBA	molecular function
GO:0086019	cell-cell signaling involved in cardiac conduction	IBA	biological process
GO:0098609	cell-cell adhesion	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:0005911	cell-cell junction	TAS	cellular component
GO:0001533	cornified envelope	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0031424	keratinization	TAS	biological process
GO:0070268	cornification	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0098609	cell-cell adhesion	IEA	biological process
GO:0030057	desmosome	IEA	cellular component
GO:0014704	intercalated disc	IEA	cellular component
GO:0005911	cell-cell junction	IEA	cellular component
GO:0007507	heart development	IEA	biological process
GO:0005882	intermediate filament	IEA	cellular component
GO:0005080	protein kinase C binding	IPI	molecular function
GO:0044325	ion channel binding	ISS	molecular function
GO:0019215	intermediate filament binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0017080	sodium channel regulator activity	ISS	molecular function
GO:0060090	molecular adaptor activity	IMP	molecular function
GO:0086083	cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication	IC	molecular function
GO:0045294	alpha-catenin binding	IPI	molecular function
GO:0045296	cadherin binding	HDA	molecular function
GO:0002159	desmosome assembly	IMP	biological process
GO:0005911	cell-cell junction	ISS	cellular component
GO:0010765	positive regulation of sodium ion transport	ISS	biological process
GO:0014704	intercalated disc	ISS	cellular component
GO:0098609	cell-cell adhesion	ISS	biological process
GO:0030057	desmosome	ISS	cellular component
GO:0055010	ventricular cardiac muscle tissue morphogenesis	IMP	biological process
GO:0086002	cardiac muscle cell action potential involved in contraction	IMP	biological process
GO:0086005	ventricular cardiac muscle cell action potential	IMP	biological process
GO:0098911	regulation of ventricular cardiac muscle cell action potential	IMP	biological process
GO:0086073	bundle of His cell-Purkinje myocyte adhesion involved in cell communication	IMP	biological process
GO:0005882	intermediate filament	ISS	cellular component
GO:0007507	heart development	ISS	biological process
GO:0045110	intermediate filament bundle assembly	IMP	biological process
GO:0048496	maintenance of animal organ identity	IMP	biological process
GO:0086019	cell-cell signaling involved in cardiac conduction	IMP	biological process
GO:0086064	cell communication by electrical coupling involved in cardiac conduction	ISS	biological process
GO:0086091	regulation of heart rate by cardiac conduction	IMP	biological process
GO:0086091	regulation of heart rate by cardiac conduction	IMP	biological process
GO:0014704	intercalated disc	IDA	cellular component
GO:0072659	protein localization to plasma membrane	IMP	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0030057	desmosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:1990124	messenger ribonucleoprotein complex	IDA	NOT|cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005634	nucleus	NAS	cellular component
GO:0030057	desmosome	NAS	cellular component
GO:0098609	cell-cell adhesion	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa05412	Arrhythmogenic right ventricular cardiomyopathy

Diseases

Associated diseases	References
Arrhythmogenic right ventricular cardiomyopathy	KEGG:H00293
Arrhythmogenic right ventricular cardiomyopathy	KEGG:H00293
Arrhythmogenic right ventricular cardiomyopathy	PMID:15489853
Arrhythmogenic right ventricular cardiomyopathy	PMID:16567567
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray