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Q99959 (PKP2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 139. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Plakophilin-2
Gene names
Name:PKP2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length881 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May play a role in junctional plaques. Ref.15

Subunit structure

Interacts with DSC2. Interacts with JUP and DSP. Ref.12 Ref.15

Subcellular location

Nucleus. Cell junctiondesmosome. Note: Nuclear and associated with desmosomes. Ref.15

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 epithelia found in the desmosomes of the basal cell layer and seems to be absent from suprabasal strata. Ref.6 Ref.15

Involvement in 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.15 Ref.16 Ref.17 Ref.19

Sequence similarities

Belongs to the beta-catenin family.

Contains 8 ARM repeats.

Ontologies

Keywords
   Biological processCell adhesion
   Cellular componentCell junction
Nucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseCardiomyopathy
Disease mutation
   DomainRepeat
   PTMPhosphoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processadherens junction maintenance

Inferred from sequence or structural similarity. Source: BHF-UCL

bundle of His cell to Purkinje myocyte communication

Inferred from mutant phenotype Ref.15. Source: BHF-UCL

cardiac muscle cell action potential

Inferred from sequence or structural similarity. Source: BHF-UCL

cardiac muscle cell action potential involved in contraction

Inferred from mutant phenotype PubMed 22889254. Source: BHF-UCL

cell communication by electrical coupling involved in cardiac conduction

Inferred from sequence or structural similarity. Source: BHF-UCL

cell-cell signaling involved in cardiac conduction

Inferred from mutant phenotype PubMed 22889254. Source: BHF-UCL

desmosome assembly

Inferred from mutant phenotype PubMed 18474624. Source: BHF-UCL

gap junction assembly

Inferred from sequence or structural similarity. Source: BHF-UCL

heart development

Inferred from sequence or structural similarity. Source: BHF-UCL

intermediate filament bundle assembly

Inferred from mutant phenotype PubMed 18474624. Source: BHF-UCL

lipid homeostasis

Inferred from sequence or structural similarity. Source: BHF-UCL

maintenance of organ identity

Inferred from mutant phenotype PubMed 22889254. Source: BHF-UCL

negative regulation of cell migration

Inferred from sequence or structural similarity. Source: BHF-UCL

negative regulation of cell proliferation

Inferred from sequence or structural similarity. Source: BHF-UCL

positive regulation of sodium ion transport

Inferred from sequence or structural similarity. Source: BHF-UCL

regulation of heart rate by cardiac conduction

Inferred from mutant phenotype Ref.15PubMed 22889254. Source: BHF-UCL

regulation of tight junction assembly

Inferred from sequence or structural similarity. Source: BHF-UCL

single organismal cell-cell adhesion

Non-traceable author statement Ref.1. Source: UniProtKB

ventricular cardiac muscle cell action potential

Inferred from mutant phenotype Ref.15PubMed 22889254. Source: BHF-UCL

ventricular cardiac muscle tissue morphogenesis

Inferred from mutant phenotype PubMed 22889254. Source: BHF-UCL

   Cellular_componentadherens junction

Inferred from sequence or structural similarity. Source: BHF-UCL

cell junction

Inferred from direct assay. Source: HPA

cell-cell junction

Inferred from sequence or structural similarity. Source: BHF-UCL

desmosome

Non-traceable author statement Ref.1. Source: UniProtKB

integral component of membrane

Traceable author statement Ref.1. Source: ProtInc

intercalated disc

Inferred from sequence or structural similarity. Source: BHF-UCL

intermediate filament

Inferred from sequence or structural similarity. Source: BHF-UCL

nucleus

Non-traceable author statement Ref.1. Source: UniProtKB

plasma membrane

Inferred from direct assay PubMed 20859650. Source: UniProt

   Molecular_functionintermediate filament binding

Inferred from direct assay PubMed 10852826. Source: BHF-UCL

ion channel binding

Inferred from sequence or structural similarity. Source: BHF-UCL

protein binding

Inferred from physical interaction PubMed 10852826. Source: BHF-UCL

protein complex scaffold

Inferred from mutant phenotype PubMed 18474624. Source: BHF-UCL

protein kinase C binding

Inferred from physical interaction PubMed 18474624. Source: BHF-UCL

sodium channel regulator activity

Inferred from sequence or structural similarity. Source: BHF-UCL

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 2 (identifier: Q99959-1)

Also known as: B;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Note: Undetected in heart.
Isoform 1 (identifier: Q99959-2)

Also known as: A;

The sequence of this isoform differs from the canonical sequence as follows:
     460-503: Missing.
Note: Major isoform in heart.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 881881Plakophilin-2
PRO_0000064286

Regions

Repeat341 – 38343ARM 1
Repeat385 – 42440ARM 2
Repeat427 – 46741ARM 3
Repeat571 – 61646ARM 4
Repeat671 – 71141ARM 5
Repeat719 – 75840ARM 6
Repeat763 – 80442ARM 7
Repeat807 – 84943ARM 8

Amino acid modifications

Modified residue441Phosphoserine Ref.11
Modified residue1321Phosphoserine Ref.7
Modified residue1511Phosphoserine Ref.8 Ref.10 Ref.11 Ref.14
Modified residue1541Phosphoserine Ref.11 Ref.14
Modified residue1551Phosphoserine Ref.11 Ref.14
Modified residue1691Phosphoserine Ref.7
Modified residue1971Phosphoserine Ref.9
Modified residue2511Phosphoserine Ref.11 Ref.14
Modified residue3291Phosphoserine Ref.9 Ref.11

Natural variations

Alternative sequence460 – 50344Missing in isoform 1.
VSP_006736
Natural variant261D → N Associated with increased susceptibility to arrhythmogenic right ventricular cardiomyopathy. Ref.17 Ref.18
Corresponds to variant rs143004808 [ dbSNP | Ensembl ].
VAR_065701
Natural variant581E → D. Ref.18
Corresponds to variant rs146708884 [ dbSNP | Ensembl ].
VAR_065702
Natural variant621Q → K Found in patients with arrhythmogenic right ventricular cardiomyopathy. Ref.18
VAR_065703
Natural variant701S → I. Ref.17 Ref.18 Ref.19
Corresponds to variant rs75909145 [ dbSNP | Ensembl ].
VAR_065704
Natural variant761N → S. Ref.2
VAR_070276
Natural variant1121K → N. Ref.2
VAR_070277
Natural variant1371E → K in ARVD9. Ref.19
VAR_065705
Natural variant1401S → F in ARVD9; uncertain pathological significance. Ref.16 Ref.17 Ref.18
Corresponds to variant rs150821281 [ dbSNP | Ensembl ].
VAR_021148
Natural variant1691S → G in ARVD9. Ref.19
VAR_065706
Natural variant1951A → V. Ref.17
VAR_065707
Natural variant2761P → S. Ref.17
VAR_065708
Natural variant3381T → A in a patient with arrhythmogenic right ventricular cardiomyopathy. Ref.18
Corresponds to variant rs139851304 [ dbSNP | Ensembl ].
VAR_065709
Natural variant3661L → P. Ref.1 Ref.5 Ref.17 Ref.18 Ref.19
Corresponds to variant rs1046116 [ dbSNP | Ensembl ].
VAR_063108
Natural variant3721A → P. Ref.12 Ref.17
VAR_065710
Natural variant4241F → S in ARVD9. Ref.17
VAR_065711
Natural variant4891G → R. Ref.18
VAR_065712
Natural variant4901R → W. Ref.13
VAR_070037
Natural variant5261T → M. Ref.17
Corresponds to variant rs146882581 [ dbSNP | Ensembl ].
VAR_065713
Natural variant5311I → S. Ref.17 Ref.18
Corresponds to variant rs147240502 [ dbSNP | Ensembl ].
VAR_065714
Natural variant5871V → I Associated with increased susceptibility to arrhythmogenic right ventricular cardiomyopathy. Ref.2 Ref.17 Ref.18 Ref.19
Corresponds to variant rs146102241 [ dbSNP | Ensembl ].
VAR_065715
Natural variant6151S → F in ARVD9; impairs protein stability. Ref.15 Ref.16
VAR_021149
Natural variant6311Y → C in ARVD9. Ref.19
VAR_065716
Natural variant6541K → Q in ARVD9; impairs protein stability. Ref.15 Ref.16
VAR_021150
Natural variant6731G → V in a patient with arrhythmogenic right ventricular cardiomyopathy. Ref.18
VAR_065717
Natural variant7871L → F in ARVD9. Ref.17
VAR_065718
Natural variant7961C → R in ARVD9; impairs protein stability. Ref.15 Ref.16
VAR_021151

Secondary structure

................................... 881
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 2 (B) [UniParc].

Last modified May 18, 2010. Version 2.
Checksum: 947838B0C8275D5D

FASTA88197,415
        10         20         30         40         50         60 
MAAPGAPAEY GYIRTVLGQQ ILGQLDSSSL ALPSEAKLKL AGSSGRGGQT VKSLRIQEQV 

        70         80         90        100        110        120 
QQTLARKGRS SVGNGNLHRT SSVPEYVYNL HLVENDFVGG RSPVPKTYDM LKAGTTATYE 

       130        140        150        160        170        180 
GRWGRGTAQY SSQKSVEERS LRHPLRRLEI SPDSSPERAH YTHSDYQYSQ RSQAGHTLHH 

       190        200        210        220        230        240 
QESRRAALLV PPRYARSEIV GVSRAGTTSR QRHFDTYHRQ YQHGSVSDTV FDSIPANPAL 

       250        260        270        280        290        300 
LTYPRPGTSR SMGNLLEKEN YLTAGLTVGQ VRPLVPLQPV TQNRASRSSW HQSSFHSTRT 

       310        320        330        340        350        360 
LREAGPSVAV DSSGRRAHLT VGQAAAGGSG NLLTERSTFT DSQLGNADME MTLERAVSML 

       370        380        390        400        410        420 
EADHMLPSRI SAAATFIQHE CFQKSEARKR VNQLRGILKL LQLLKVQNED VQRAVCGALR 

       430        440        450        460        470        480 
NLVFEDNDNK LEVAELNGVP RLLQVLKQTR DLETKKQITD HTVNLRSRNG WPGAVAHACN 

       490        500        510        520        530        540 
PSTLGGQGGR ITRSGVRDQP DQHGLLWNLS SNDKLKNLMI TEALLTLTEN IIIPFSGWPE 

       550        560        570        580        590        600 
GDYPKANGLL DFDIFYNVTG CLRNMSSAGA DGRKAMRRCD GLIDSLVHYV RGTIADYQPD 

       610        620        630        640        650        660 
DKATENCVCI LHNLSYQLEA ELPEKYSQNI YIQNRNIQTD NNKSIGCFGS RSRKVKEQYQ 

       670        680        690        700        710        720 
DVPMPEEKSN PKGVEWLWHS IVIRMYLSLI AKSVRNYTQE ASLGALQNLT AGSGPMPTSV 

       730        740        750        760        770        780 
AQTVVQKESG LQHTRKMLHV GDPSVKKTAI SLLRNLSRNL SLQNEIAKET LPDLVSIIPD 

       790        800        810        820        830        840 
TVPSTDLLIE TTASACYTLN NIIQNSYQNA RDLLNTGGIQ KIMAISAGDA YASNKASKAA 

       850        860        870        880 
SVLLYSLWAH TELHHAYKKA QFKKTDFVNS RTAKAYHSLK D 

« Hide

Isoform 1 (A) [UniParc].

Checksum: 8E9553F9B820E8DF
Show »

FASTA83792,756

References

« Hide 'large scale' references
[1]"Plakophilins 2a and 2b: constitutive proteins of dual location in the karyoplasm and the desmosomal plaque."
Mertens C., Kuhn C., Franke W.W.
J. Cell Biol. 135:1009-1025(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), VARIANT PRO-366.
[2]"Mutations in PKP2 gene involved in ARVC."
Rampazzo A.
Submitted (FEB-2008) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANTS SER-76; ASN-112 AND ILE-587.
[3]"The finished DNA sequence of human chromosome 12."
Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. expand/collapse author list , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT PRO-366.
Tissue: Brain and Placenta.
[6]"Desmosomal plakophilin 2 as a differentiation marker in normal and malignant tissues."
Mertens C., Kuhn C., Moll R., Schwetlick I., Franke W.W.
Differentiation 64:277-290(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY.
[7]"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage."
Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J.
Science 316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-132 AND SER-169, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Embryonic kidney.
[8]"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-151, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[9]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-197 AND SER-329, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[10]"Large-scale proteomics analysis of the human kinome."
Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H.
Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-151, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[11]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-44; SER-151; SER-154; SER-155; SER-251 AND SER-329, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[12]"Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations."
Gehmlich K., Syrris P., Peskett E., Evans A., Ehler E., Asimaki A., Anastasakis A., Tsatsopoulou A., Vouliotis A.I., Stefanadis C., Saffitz J.E., Protonotarios N., McKenna W.J.
Cardiovasc. Res. 90:77-87(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH DSC2, VARIANT PRO-372.
[13]"Plakophilin 2A is the dominant isoform in human heart tissue: consequences for the genetic screening of arrhythmogenic right ventricular cardiomyopathy."
Gandjbakhch E., Charron P., Fressart V., Lorin de la Grandmaison G., Simon F., Gary F., Vite A., Hainque B., Hidden-Lucet F., Komajda M., Villard E.
Heart 97:844-849(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: ALTERNATIVE SPLICING, VARIANT TRP-490.
[14]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-151; SER-154; SER-155 AND SER-251, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[15]"Molecular insights into arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 missense mutations."
Kirchner F., Schuetz A., Boldt L.H., Martens K., Dittmar G., Haverkamp W., Thierfelder L., Heinemann U., Gerull B.
Circ. Cardiovasc. Genet. 5:400-411(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (1.55 ANGSTROMS) OF 346-620 OF VARIANT ARVD9 ARG-796, VARIANT ARVD9 ARG-796, CHARACTERIZATION OF VARIANTS ARVD9 PHE-615; GLN-654 AND ARG-796, FUNCTION, INTERACTION WITH JUP AND DSP, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[16]"Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy."
Gerull B., Heuser A., Wichter T., Paul M., Basson C.T., McDermott D.A., Lerman B.B., Markowitz S.M., Ellinor P.T., MacRae C.A., Peters S., Grossmann K.S., Michely B., Sasse-Klaassen S., Birchmeier W., Dietz R., Breithardt G., Schulze-Bahr E., Thierfelder L.
Nat. Genet. 36:1162-1164(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ARVD9 PHE-140; PHE-615; GLN-654 AND ARG-796.
[17]"Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy."
den Haan A.D., Tan B.Y., Zikusoka M.N., Llado L.I., Jain R., Daly A., Tichnell C., James C., Amat-Alarcon N., Abraham T., Russell S.D., Bluemke D.A., Calkins H., Dalal D., Judge D.P.
Circ. Cardiovasc. Genet. 2:428-435(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ARVD9 PHE-140; SER-424 AND PHE-787, VARIANTS ASN-26; ILE-70; VAL-195; SER-276; PRO-366; PRO-372; MET-526; SER-531 AND ILE-587.
[18]"Missense variants in plakophilin-2 in arrhythmogenic right ventricular cardiomyopathy patients -- disease-causing or innocent bystanders?"
Christensen A.H., Benn M., Tybjaerg-Hansen A., Haunso S., Svendsen J.H.
Cardiology 115:148-154(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ASN-26; ASP-58; LYS-62; ILE-70; PHE-140; ALA-338; PRO-366; ARG-489; SER-531; ILE-587 AND VAL-673, DISCUSSION OF PATHOGENIC ROLE OF VARIANTS ASN-26; PHE-140 AND ILE-587.
[19]"Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia."
Barahona-Dussault C., Benito B., Campuzano O., Iglesias A., Leung T.L., Robb L., Talajic M., Brugada R.
Clin. Genet. 77:37-48(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ARVD9 LYS-137; GLY-169 AND CYS-631, VARIANTS ILE-70; PRO-366 AND ILE-587.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X97675 mRNA. Translation: CAA66264.1.
X97675 mRNA. Translation: CAA66265.1.
EU492903 Genomic DNA. Translation: ACD03459.1.
EU520483 mRNA. Translation: ACD13292.1.
EU520484 mRNA. Translation: ACD13293.1.
AC087311 Genomic DNA. No translation available.
AC087588 Genomic DNA. No translation available.
CH471116 Genomic DNA. Translation: EAW88511.1.
CH471116 Genomic DNA. Translation: EAW88514.1.
CH471116 Genomic DNA. Translation: EAW88515.1.
BC094762 mRNA. Translation: AAH94762.1.
BC126199 mRNA. Translation: AAI26200.1.
BC143966 mRNA. Translation: AAI43967.1.
CCDSCCDS31771.1. [Q99959-2]
CCDS8731.1. [Q99959-1]
RefSeqNP_001005242.2. NM_001005242.2. [Q99959-2]
NP_004563.2. NM_004572.3. [Q99959-1]
UniGeneHs.164384.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
3TT9X-ray1.55A346-620[»]
ProteinModelPortalQ99959.
SMRQ99959. Positions 346-854.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111335. 24 interactions.
IntActQ99959. 15 interactions.
MINTMINT-5001916.
STRING9606.ENSP00000070846.

PTM databases

PhosphoSiteQ99959.

Polymorphism databases

DMDM296452867.

Proteomic databases

MaxQBQ99959.
PaxDbQ99959.
PRIDEQ99959.

Protocols and materials databases

DNASU5318.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000070846; ENSP00000070846; ENSG00000057294. [Q99959-1]
ENST00000340811; ENSP00000342800; ENSG00000057294. [Q99959-2]
GeneID5318.
KEGGhsa:5318.
UCSCuc001rlj.4. human. [Q99959-1]
uc001rlk.4. human. [Q99959-2]

Organism-specific databases

CTD5318.
GeneCardsGC12M032943.
GeneReviewsPKP2.
HGNCHGNC:9024. PKP2.
HPAHPA014314.
HPA056908.
MIM602861. gene.
609040. phenotype.
neXtProtNX_Q99959.
Orphanet293899. Familial isolated arrhythmogenic ventricular dysplasia, biventricular form.
293888. Familial isolated arrhythmogenic ventricular dysplasia, left dominant form.
293910. Familial isolated arrhythmogenic ventricular dysplasia, right dominant form.
PharmGKBPA33357.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG273513.
HOGENOMHOG000092312.
HOVERGENHBG009157.
InParanoidQ99959.
KOK12642.
OMASWHQSSF.
OrthoDBEOG76HQ1V.
PhylomeDBQ99959.
TreeFamTF321877.

Enzyme and pathway databases

SignaLinkQ99959.

Gene expression databases

BgeeQ99959.
CleanExHS_PKP2.
GenevestigatorQ99959.

Family and domain databases

Gene3D1.25.10.10. 3 hits.
InterProIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR000225. Armadillo.
IPR028435. Plakophilin/d_Catenin.
[Graphical view]
PANTHERPTHR10372. PTHR10372. 1 hit.
PfamPF00514. Arm. 1 hit.
[Graphical view]
SMARTSM00185. ARM. 4 hits.
[Graphical view]
SUPFAMSSF48371. SSF48371. 2 hits.
PROSITEPS50176. ARM_REPEAT. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSPKP2. human.
GeneWikiPKP2.
GenomeRNAi5318.
NextBio20572.
PROQ99959.
SOURCESearch...

Entry information

Entry namePKP2_HUMAN
AccessionPrimary (citable) accession number: Q99959
Secondary accession number(s): A0AV37 expand/collapse secondary AC list , B8QFA1, B8QGS6, B8QGS7, D3DUW9, Q4VC01, Q99960
Entry history
Integrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 139 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM