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Plakophilin-2

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens

"PKP2" redirects here. For the 2015 Indian film, seePyaar Ka Punchnama 2.
PKP2
Available structures
PDBOrtholog search:PDBeRCSB
List of PDB id codes

3TT9,%%s3TT9

Identifiers
AliasesPKP2, ARVD9, plakophilin 2
External IDsOMIM:602861;MGI:1914701;HomoloGene:3364;GeneCards:PKP2;OMA:PKP2 - orthologs
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for PKP2
Genomic location for PKP2
Band12p11.21Start32,790,755bp[1]
End32,896,777bp[1]
Gene location (Mouse)
Chromosome 16 (mouse)
Chr.Chromosome 16 (mouse)[2]
Chromosome 16 (mouse)
Genomic location for PKP2
Genomic location for PKP2
Band16|16 A2Start16,031,182bp[2]
End16,090,576bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • right ventricle

  • apex of heart

  • myocardium of left ventricle

  • right uterine tube

  • right auricle

  • cardiac muscle tissue of right atrium

  • mucosa of colon

  • mucosa of sigmoid colon

  • rectum

  • mucosa of transverse colon
Top expressed in
  • Ileal epithelium

  • superior surface of tongue

  • gallbladder

  • atrioventricular valve

  • myocardium of ventricle

  • cardiac muscle tissue of left ventricle

  • endocardial cushion

  • atrium

  • Paneth cell

  • epithelium of lens
More reference expression data
BioGPS


More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

5318

67451

Ensembl

ENSG00000057294

ENSMUSG00000041957

UniProt

Q99959

Q9CQ73

RefSeq (mRNA)

NM_004572
NM_001005242

NM_026163

RefSeq (protein)

NP_001005242
NP_004563

NP_080439

Location (UCSC)Chr 12: 32.79 – 32.9 MbChr 16: 16.03 – 16.09 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Plakophilin-2 is aprotein that in humans is encoded by thePKP2gene.[5][6] Plakophilin 2 is expressed in skin andcardiac muscle, where it functions to linkcadherins to intermediate filaments in thecytoskeleton. Incardiac muscle, plakophilin-2 is found indesmosome structures located withinintercalated discs. Mutations inPKP2 have been shown to be causal inarrhythmogenic right ventricular cardiomyopathy.

Structure

[edit]

Twosplice variants of thePKP2gene have been identified. The first has a molecular weight of 97.4 kDa (881amino acids) and the second of molecular weight of 92.7 kDa (837amino acids).[7][8] A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13.[6]

Plakophilin-2 is a member of thearmadillo repeat and plakophilinprotein family. Plakophilin proteins contain nine central, conservedarmadillo repeat domains flanked byN-terminal andC-terminal domains.[9] Alternately spliced transcripts encoding proteinisoforms have been identified.[10]

Plakophilin 2 localizes to cell desmosomes and nuclei and bindsplakoglobin,desmoplakin, and the desmosomal cadherins viaN-terminal head domain.[11][12]

Function

[edit]

Plakophilin 2 functions to link cadherins to intermediate filaments in the cytoskeleton. Incardiomyocytes, plakophilin-2 is found atdesmosome structures withinintercalated discs, which link adjacentsarcolemmal membranes together.[13] Thedesmosomalprotein,desmoplakin, is the core constituent of the plaque which anchorsintermediate filaments to thesarcolemma by itsC-terminus and indirectly tosarcolemmalcadherins by itsN-terminus, facilitated byplakoglobin and plakophilin-2.[14] Plakophilin is necessary for normal localization and content ofdesmoplakin todesmosomes, which may in part be due to the recruitment ofprotein kinase C alpha todesmoplakin.[15]

Ablation ofPKP2 in mice severely disrupts normal heart morphogenesis. Mutant mice are embryonic lethal and exhibit deficits in the formation of adhering junctions incardiomyocytes, including the dissociation ofdesmoplakin and formation ofcytoplasmic granular aggregates around embryonic day 10.5-11. Additional malformation included reducedtrabeculation,cytoskeletal disarray and cardiac wall rupture.[16] Further studies demonstrated that plakophilin-2 coordinate withE-cadherin is required to properly localizeRhoA early inactincytoskeletal rearrangement in order to properly couple the assembly ofadherens junctions to the translocation ofdesmosome precursors in newly formed cell-cell junctions.[17]

Plakophilin-2 over time has shown to be more than components of cell-cell junctions; rather the plakophilins are emerging as versatile scaffolds for various signaling pathways that more globally modulate diverse cellular activities.[9] Plakophilin-2 has shown to localize to nuclei, in addition todesmosomal plaques in thecytoplasm. Studies have shown that plakkophillin-2 is found in the nucleoplasm, complexed in the RNA polymerase III holoenzyme with the largest subunit of RNA polymerase III, termedRPC155.[11]

There are data to support molecular crosstalk between plakophilin-2 and proteins involved in mechanical junctions incardiomyocytes, includingconnexin 43, the major component of cardiacgap junctions; the voltage-gated sodium channelNa(V)1.5 and its interacting subunit,ankyrin G; and theK(ATP). Decreased expression of plakophilin-2 viasiRNA leads to a decrease in and redistribution ofconnexin 43protein, as well as a decrease in coupling of adjacentcardiomyocytes. Studies also showed thatGJA1 and plakophilin-2 are components in the samebiomolecular complex.[18] Plakophilin-2 also associates withNa(V)1.5, and knockdown of plakophilin-2 incardiomyocytes alters sodium current properties as well as velocity ofaction potential propagation.[19] It has also been demonstrated that plakophilin-2 associates with an important component of theNa(V)1.5 complex,ankyrin G, and loss ofankyrin G viasiRNA downregulation mislocalized plakophilin-2 andconnexin 43 in cardiac cells, which was coordinate with decreased electrical coupling of cells and decreased adhesion strength.[20] These studies were further supported by an investigation in a mouse model harboring aPKP2-heterozygous null mutation, which showed decreasedNa(V)1.5 amplitude, as well as a shift in gating and kinetics; pharmacological challenge also inducedventriculararrhythmias. These findings further support the notion thatdesmosomes crosstalk with sodium channels in the heart, and suggest that the risk ofarrhythmias in patients withPKP2 mutations may be unveiled with pharmacological challenge.[21] Evidence has also shown that plakophilin-2 binds to theK(ATP) channel subunit,Kir6.2, and that incardiomyocytes from haploinsufficientPKP2 mice,K(ATP) channel current density was ~40% smaller and regional heterogeneity ofK(ATP) channels was altered, suggesting that plakophilin-2 interacts withK(ATP) and mediates crosstalk between intercellular junctions and membrane excitability.[22]

Clinical significance

[edit]

Mutations inPKP2 have been associated with, have been shown to cause, and are considered common inarrhythmogenic right ventricular cardiomyopathy, which is characterized by fibrofatty replacement ofcardiomyocytes,ventricular tachycardia andsudden cardiac death.[23][24][25][26][27][28][29][30] It is estimated that 70% of all mutations associated witharrhythmogenic right ventricular cardiomyopathy are within thePKP2gene.[31] These mutations in general appear to disrupt the assembly and stability ofdesmosomes.[32] Mechanistic studies have shown that certainPKP2 mutations result in instability of the plakophilin-2 protein due to enhancedcalpain-mediated degradation.[33]

Specific and sensitive markers ofPKP2 andplakoglobin mutation carriers inarrhythmogenic right ventricular cardiomyopathy have been identified to includeT-wave inversions, rightventricular wall motion abnormalities, and ventricularextrasystoles.[34] Additionally,immunohistochemical analysis of proteins comprisingcardiomyocytedesmosomes has shown to be a highly sensitive and specific diagnostic indicator.[35]

Clinical and genetic characterization ofarrhythmogenic right ventricular cardiomyopathy is currently under intense investigation to understand thepenetrance associated withPKP2 mutations, as well as other genes encodingdesmosomal proteins, in disease progression and outcome.[10][36][37][38][39][40][41][42][43][44][45]

PKP2 mutations were also found to coexist withsodium channelopathies in patients withBrugada syndrome.[46][47]

Additionally, plakophilin-2 was found inadherens junctions ofcardiac myxomata tumors analyzed, and absent in patients with noncardiacmyxomata, suggesting that plakophilin-2 may serve as a valuable marker in the clinical diagnosis ofcardiac myxomata.[48]

Interactions

[edit]

PKP2 has been shown tointeract with:

See also

[edit]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000057294 –Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000041957 –Ensembl, May 2017
  3. ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^Mertens C, Kuhn C, Franke WW (January 1997)."Plakophilins 2a and 2b: constitutive proteins of dual location in the karyoplasm and the desmosomal plaque".J Cell Biol.135 (4):1009–25.doi:10.1083/jcb.135.4.1009.PMC 2133394.PMID 8922383.
  6. ^ab"Entrez Gene: PKP2 plakophilin 2".
  7. ^"Protein sequence of human PKP2 (Uniprot ID: Q99959)".Cardiac Organellar Protein Atlas Knowledgebase (COPaKB). Archived fromthe original on 12 July 2015. Retrieved11 July 2015.
  8. ^"Protein sequence of human PKP2 (Uniprot ID: Q99959-2)".Cardiac Organellar Protein Atlas Knowledgebase (COPaKB). Archived fromthe original on 12 July 2015. Retrieved11 July 2015.
  9. ^abBass-Zubek AE, Godsel LM, Delmar M, Green KJ (October 2009)."Plakophilins: multifunctional scaffolds for adhesion and signaling".Current Opinion in Cell Biology.21 (5):708–16.doi:10.1016/j.ceb.2009.07.002.PMC 3091506.PMID 19674883.
  10. ^abGroeneweg JA, Ummels A, Mulder M, Bikker H, van der Smagt JJ, van Mil AM, Homfray T, Post JG, Elvan A, van der Heijden JF, Houweling AC, Jongbloed JD, Wilde AA, van Tintelen JP, Hauer RN, Dooijes D (November 2014). "Functional assessment of potential splice site variants in arrhythmogenic right ventricular dysplasia/cardiomyopathy".Heart Rhythm.11 (11):2010–7.doi:10.1016/j.hrthm.2014.07.041.PMID 25087486.
  11. ^abcdefghiChen X, Bonne S, Hatzfeld M, van Roy F, Green KJ (March 2002)."Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling".The Journal of Biological Chemistry.277 (12):10512–22.doi:10.1074/jbc.M108765200.PMID 11790773.
  12. ^Mertens C, Hofmann I, Wang Z, Teichmann M, Sepehri Chong S, Schnölzer M, Franke WW (July 2001)."Nuclear particles containing RNA polymerase III complexes associated with the junctional plaque protein plakophilin 2".Proceedings of the National Academy of Sciences of the United States of America.98 (14):7795–800.Bibcode:2001PNAS...98.7795M.doi:10.1073/pnas.141219498.PMC 35421.PMID 11416169.
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  20. ^abSato PY, Coombs W, Lin X, Nekrasova O, Green KJ, Isom LL, Taffet SM, Delmar M (July 2011)."Interactions between ankyrin-G, Plakophilin-2, and Connexin43 at the cardiac intercalated disc".Circulation Research.109 (2):193–201.doi:10.1161/CIRCRESAHA.111.247023.PMC 3139453.PMID 21617128.
  21. ^Cerrone M, Noorman M, Lin X, Chkourko H, Liang FX, van der Nagel R, Hund T, Birchmeier W, Mohler P, van Veen TA, van Rijen HV, Delmar M (September 2012)."Sodium current deficit and arrhythmogenesis in a murine model of plakophilin-2 haploinsufficiency".Cardiovascular Research.95 (4):460–8.doi:10.1093/cvr/cvs218.PMC 3422082.PMID 22764151.
  22. ^abHong M, Bao L, Kefaloyianni E, Agullo-Pascual E, Chkourko H, Foster M, Taskin E, Zhandre M, Reid DA, Rothenberg E, Delmar M, Coetzee WA (November 2012)."Heterogeneity of ATP-sensitive K+ channels in cardiac myocytes: enrichment at the intercalated disk".The Journal of Biological Chemistry.287 (49):41258–67.doi:10.1074/jbc.M112.412122.PMC 3510824.PMID 23066018.
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  29. ^Kannankeril PJ, Bhuiyan ZA, Darbar D, Mannens MM, Wilde AA, Roden DM (August 2006). "Arrhythmogenic right ventricular cardiomyopathy due to a novel plakophilin 2 mutation: wide spectrum of disease in mutation carriers within a family".Heart Rhythm.3 (8):939–44.doi:10.1016/j.hrthm.2006.04.028.PMID 16876743.
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  34. ^Antoniades L, Tsatsopoulou A, Anastasakis A, Syrris P, Asimaki A, Panagiotakos D, Zambartas C, Stefanadis C, McKenna WJ, Protonotarios N (September 2006)."Arrhythmogenic right ventricular cardiomyopathy caused by deletions in plakophilin-2 and plakoglobin (Naxos disease) in families from Greece and Cyprus: genotype-phenotype relations, diagnostic features and prognosis".European Heart Journal.27 (18):2208–16.doi:10.1093/eurheartj/ehl184.PMID 16893920.
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  49. ^Agullo-Pascual E, Reid DA, Keegan S, Sidhu M, Fenyö D, Rothenberg E, Delmar M (November 2013)."Super-resolution fluorescence microscopy of the cardiac connexome reveals plakophilin-2 inside the connexin43 plaque".Cardiovascular Research.100 (2):231–40.doi:10.1093/cvr/cvt191.PMC 3797628.PMID 23929525.

Further reading

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External links

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