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Q99959

- PKP2_HUMAN

UniProt

Q99959 - PKP2_HUMAN

Protein

Plakophilin-2

Gene

PKP2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 140 (01 Oct 2014)
      Sequence version 2 (18 May 2010)
      Previous versions | rss
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    Functioni

    May play a role in junctional plaques.1 Publication

    GO - Molecular functioni

    1. intermediate filament binding Source: BHF-UCL
    2. ion channel binding Source: BHF-UCL
    3. protein binding Source: BHF-UCL
    4. protein complex scaffold Source: BHF-UCL
    5. protein kinase C binding Source: BHF-UCL
    6. sodium channel regulator activity Source: BHF-UCL

    GO - Biological processi

    1. adherens junction maintenance Source: BHF-UCL
    2. bundle of His cell to Purkinje myocyte communication Source: BHF-UCL
    3. cardiac muscle cell action potential Source: BHF-UCL
    4. cardiac muscle cell action potential involved in contraction Source: BHF-UCL
    5. cell-cell signaling involved in cardiac conduction Source: BHF-UCL
    6. cell communication by electrical coupling involved in cardiac conduction Source: BHF-UCL
    7. desmosome assembly Source: BHF-UCL
    8. gap junction assembly Source: BHF-UCL
    9. heart development Source: BHF-UCL
    10. intermediate filament bundle assembly Source: BHF-UCL
    11. lipid homeostasis Source: BHF-UCL
    12. maintenance of organ identity Source: BHF-UCL
    13. negative regulation of cell migration Source: BHF-UCL
    14. negative regulation of cell proliferation Source: BHF-UCL
    15. positive regulation of sodium ion transport Source: BHF-UCL
    16. regulation of heart rate by cardiac conduction Source: BHF-UCL
    17. regulation of tight junction assembly Source: BHF-UCL
    18. single organismal cell-cell adhesion Source: UniProtKB
    19. ventricular cardiac muscle cell action potential Source: BHF-UCL
    20. ventricular cardiac muscle tissue morphogenesis Source: BHF-UCL

    Keywords - Biological processi

    Cell adhesion

    Enzyme and pathway databases

    SignaLinkiQ99959.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Plakophilin-2
    Gene namesi
    Name:PKP2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:9024. PKP2.

    Subcellular locationi

    Nucleus 1 Publication. Cell junctiondesmosome 1 Publication
    Note: Nuclear and associated with desmosomes.

    GO - Cellular componenti

    1. adherens junction Source: BHF-UCL
    2. cell-cell junction Source: BHF-UCL
    3. cell junction Source: HPA
    4. desmosome Source: UniProtKB
    5. integral component of membrane Source: ProtInc
    6. intercalated disc Source: BHF-UCL
    7. intermediate filament Source: BHF-UCL
    8. nucleus Source: UniProtKB
    9. plasma membrane Source: UniProt

    Keywords - Cellular componenti

    Cell junction, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    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.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti137 – 1371E → K in ARVD9. 1 Publication
    VAR_065705
    Natural varianti140 – 1401S → F in ARVD9; uncertain pathological significance. 3 Publications
    Corresponds to variant rs150821281 [ dbSNP | Ensembl ].
    VAR_021148
    Natural varianti169 – 1691S → G in ARVD9. 1 Publication
    VAR_065706
    Natural varianti424 – 4241F → S in ARVD9. 1 Publication
    VAR_065711
    Natural varianti615 – 6151S → F in ARVD9; impairs protein stability. 1 Publication
    VAR_021149
    Natural varianti631 – 6311Y → C in ARVD9. 1 Publication
    VAR_065716
    Natural varianti654 – 6541K → Q in ARVD9; impairs protein stability. 1 Publication
    VAR_021150
    Natural varianti787 – 7871L → F in ARVD9. 1 Publication
    VAR_065718
    Natural varianti796 – 7961C → R in ARVD9; impairs protein stability. 2 Publications
    VAR_021151

    Keywords - Diseasei

    Cardiomyopathy, Disease mutation

    Organism-specific databases

    MIMi609040. phenotype.
    Orphaneti293899. 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.
    PharmGKBiPA33357.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 881881Plakophilin-2PRO_0000064286Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei44 – 441Phosphoserine1 Publication
    Modified residuei132 – 1321Phosphoserine1 Publication
    Modified residuei151 – 1511Phosphoserine4 Publications
    Modified residuei154 – 1541Phosphoserine2 Publications
    Modified residuei155 – 1551Phosphoserine2 Publications
    Modified residuei169 – 1691Phosphoserine1 Publication
    Modified residuei197 – 1971Phosphoserine1 Publication
    Modified residuei251 – 2511Phosphoserine2 Publications
    Modified residuei329 – 3291Phosphoserine2 Publications

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ99959.
    PaxDbiQ99959.
    PRIDEiQ99959.

    PTM databases

    PhosphoSiteiQ99959.

    Expressioni

    Tissue specificityi

    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.2 Publications

    Gene expression databases

    BgeeiQ99959.
    CleanExiHS_PKP2.
    GenevestigatoriQ99959.

    Organism-specific databases

    HPAiHPA014314.
    HPA056908.

    Interactioni

    Subunit structurei

    Interacts with DSC2. Interacts with JUP and DSP.2 Publications

    Protein-protein interaction databases

    BioGridi111335. 24 interactions.
    IntActiQ99959. 15 interactions.
    MINTiMINT-5001916.
    STRINGi9606.ENSP00000070846.

    Structurei

    Secondary structure

    1
    881
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi353 – 3586
    Helixi367 – 38115
    Helixi385 – 3939
    Helixi396 – 4027
    Helixi403 – 4053
    Helixi409 – 42315
    Helixi427 – 4359
    Helixi438 – 44811
    Helixi452 – 4598
    Helixi504 – 5107
    Helixi513 – 5153
    Helixi516 – 53015
    Helixi532 – 5365
    Helixi540 – 5423
    Helixi552 – 56514
    Helixi570 – 5778
    Helixi582 – 59514
    Helixi602 – 61413

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    3TT9X-ray1.55A346-620[»]
    ProteinModelPortaliQ99959.
    SMRiQ99959. Positions 346-854.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati341 – 38343ARM 1Add
    BLAST
    Repeati385 – 42440ARM 2Add
    BLAST
    Repeati427 – 46741ARM 3Add
    BLAST
    Repeati571 – 61646ARM 4Add
    BLAST
    Repeati671 – 71141ARM 5Add
    BLAST
    Repeati719 – 75840ARM 6Add
    BLAST
    Repeati763 – 80442ARM 7Add
    BLAST
    Repeati807 – 84943ARM 8Add
    BLAST

    Sequence similaritiesi

    Belongs to the beta-catenin family.Curated
    Contains 8 ARM repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiNOG273513.
    HOGENOMiHOG000092312.
    HOVERGENiHBG009157.
    InParanoidiQ99959.
    KOiK12642.
    OMAiSWHQSSF.
    OrthoDBiEOG76HQ1V.
    PhylomeDBiQ99959.
    TreeFamiTF321877.

    Family and domain databases

    Gene3Di1.25.10.10. 3 hits.
    InterProiIPR011989. ARM-like.
    IPR016024. ARM-type_fold.
    IPR000225. Armadillo.
    IPR028435. Plakophilin/d_Catenin.
    [Graphical view]
    PANTHERiPTHR10372. PTHR10372. 1 hit.
    PfamiPF00514. Arm. 1 hit.
    [Graphical view]
    SMARTiSM00185. ARM. 4 hits.
    [Graphical view]
    SUPFAMiSSF48371. SSF48371. 2 hits.
    PROSITEiPS50176. ARM_REPEAT. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 2 (identifier: Q99959-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MAAPGAPAEY GYIRTVLGQQ ILGQLDSSSL ALPSEAKLKL AGSSGRGGQT    50
    VKSLRIQEQV QQTLARKGRS SVGNGNLHRT SSVPEYVYNL HLVENDFVGG 100
    RSPVPKTYDM LKAGTTATYE GRWGRGTAQY SSQKSVEERS LRHPLRRLEI 150
    SPDSSPERAH YTHSDYQYSQ RSQAGHTLHH QESRRAALLV PPRYARSEIV 200
    GVSRAGTTSR QRHFDTYHRQ YQHGSVSDTV FDSIPANPAL LTYPRPGTSR 250
    SMGNLLEKEN YLTAGLTVGQ VRPLVPLQPV TQNRASRSSW HQSSFHSTRT 300
    LREAGPSVAV DSSGRRAHLT VGQAAAGGSG NLLTERSTFT DSQLGNADME 350
    MTLERAVSML EADHMLPSRI SAAATFIQHE CFQKSEARKR VNQLRGILKL 400
    LQLLKVQNED VQRAVCGALR NLVFEDNDNK LEVAELNGVP RLLQVLKQTR 450
    DLETKKQITD HTVNLRSRNG WPGAVAHACN PSTLGGQGGR ITRSGVRDQP 500
    DQHGLLWNLS SNDKLKNLMI TEALLTLTEN IIIPFSGWPE GDYPKANGLL 550
    DFDIFYNVTG CLRNMSSAGA DGRKAMRRCD GLIDSLVHYV RGTIADYQPD 600
    DKATENCVCI LHNLSYQLEA ELPEKYSQNI YIQNRNIQTD NNKSIGCFGS 650
    RSRKVKEQYQ DVPMPEEKSN PKGVEWLWHS IVIRMYLSLI AKSVRNYTQE 700
    ASLGALQNLT AGSGPMPTSV AQTVVQKESG LQHTRKMLHV GDPSVKKTAI 750
    SLLRNLSRNL SLQNEIAKET LPDLVSIIPD TVPSTDLLIE TTASACYTLN 800
    NIIQNSYQNA RDLLNTGGIQ KIMAISAGDA YASNKASKAA SVLLYSLWAH 850
    TELHHAYKKA QFKKTDFVNS RTAKAYHSLK D 881

    Note: Undetected in heart.

    Length:881
    Mass (Da):97,415
    Last modified:May 18, 2010 - v2
    Checksum:i947838B0C8275D5D
    GO
    Isoform 1 (identifier: Q99959-2) [UniParc]FASTAAdd to Basket

    Also known as: A

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

    Note: Major isoform in heart.

    Show »
    Length:837
    Mass (Da):92,756
    Checksum:i8E9553F9B820E8DF
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti26 – 261D → N Associated with increased susceptibility to arrhythmogenic right ventricular cardiomyopathy. 2 Publications
    Corresponds to variant rs143004808 [ dbSNP | Ensembl ].
    VAR_065701
    Natural varianti58 – 581E → D.1 Publication
    Corresponds to variant rs146708884 [ dbSNP | Ensembl ].
    VAR_065702
    Natural varianti62 – 621Q → K Found in patients with arrhythmogenic right ventricular cardiomyopathy. 1 Publication
    VAR_065703
    Natural varianti70 – 701S → I.3 Publications
    Corresponds to variant rs75909145 [ dbSNP | Ensembl ].
    VAR_065704
    Natural varianti76 – 761N → S.1 Publication
    VAR_070276
    Natural varianti112 – 1121K → N.1 Publication
    VAR_070277
    Natural varianti137 – 1371E → K in ARVD9. 1 Publication
    VAR_065705
    Natural varianti140 – 1401S → F in ARVD9; uncertain pathological significance. 3 Publications
    Corresponds to variant rs150821281 [ dbSNP | Ensembl ].
    VAR_021148
    Natural varianti169 – 1691S → G in ARVD9. 1 Publication
    VAR_065706
    Natural varianti195 – 1951A → V.1 Publication
    VAR_065707
    Natural varianti276 – 2761P → S.1 Publication
    VAR_065708
    Natural varianti338 – 3381T → A in a patient with arrhythmogenic right ventricular cardiomyopathy. 1 Publication
    Corresponds to variant rs139851304 [ dbSNP | Ensembl ].
    VAR_065709
    Natural varianti366 – 3661L → P.5 Publications
    Corresponds to variant rs1046116 [ dbSNP | Ensembl ].
    VAR_063108
    Natural varianti372 – 3721A → P.2 Publications
    VAR_065710
    Natural varianti424 – 4241F → S in ARVD9. 1 Publication
    VAR_065711
    Natural varianti489 – 4891G → R.1 Publication
    VAR_065712
    Natural varianti490 – 4901R → W.1 Publication
    VAR_070037
    Natural varianti526 – 5261T → M.1 Publication
    Corresponds to variant rs146882581 [ dbSNP | Ensembl ].
    VAR_065713
    Natural varianti531 – 5311I → S.2 Publications
    Corresponds to variant rs147240502 [ dbSNP | Ensembl ].
    VAR_065714
    Natural varianti587 – 5871V → I Associated with increased susceptibility to arrhythmogenic right ventricular cardiomyopathy. 4 Publications
    Corresponds to variant rs146102241 [ dbSNP | Ensembl ].
    VAR_065715
    Natural varianti615 – 6151S → F in ARVD9; impairs protein stability. 1 Publication
    VAR_021149
    Natural varianti631 – 6311Y → C in ARVD9. 1 Publication
    VAR_065716
    Natural varianti654 – 6541K → Q in ARVD9; impairs protein stability. 1 Publication
    VAR_021150
    Natural varianti673 – 6731G → V in a patient with arrhythmogenic right ventricular cardiomyopathy. 1 Publication
    VAR_065717
    Natural varianti787 – 7871L → F in ARVD9. 1 Publication
    VAR_065718
    Natural varianti796 – 7961C → R in ARVD9; impairs protein stability. 2 Publications
    VAR_021151

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei460 – 50344Missing in isoform 1. 2 PublicationsVSP_006736Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS31771.1. [Q99959-2]
    CCDS8731.1. [Q99959-1]
    RefSeqiNP_001005242.2. NM_001005242.2. [Q99959-2]
    NP_004563.2. NM_004572.3. [Q99959-1]
    UniGeneiHs.164384.

    Genome annotation databases

    EnsembliENST00000070846; ENSP00000070846; ENSG00000057294. [Q99959-1]
    ENST00000340811; ENSP00000342800; ENSG00000057294. [Q99959-2]
    GeneIDi5318.
    KEGGihsa:5318.
    UCSCiuc001rlj.4. human. [Q99959-1]
    uc001rlk.4. human. [Q99959-2]

    Polymorphism databases

    DMDMi296452867.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS31771.1. [Q99959-2 ]
    CCDS8731.1. [Q99959-1 ]
    RefSeqi NP_001005242.2. NM_001005242.2. [Q99959-2 ]
    NP_004563.2. NM_004572.3. [Q99959-1 ]
    UniGenei Hs.164384.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    3TT9 X-ray 1.55 A 346-620 [» ]
    ProteinModelPortali Q99959.
    SMRi Q99959. Positions 346-854.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111335. 24 interactions.
    IntActi Q99959. 15 interactions.
    MINTi MINT-5001916.
    STRINGi 9606.ENSP00000070846.

    PTM databases

    PhosphoSitei Q99959.

    Polymorphism databases

    DMDMi 296452867.

    Proteomic databases

    MaxQBi Q99959.
    PaxDbi Q99959.
    PRIDEi Q99959.

    Protocols and materials databases

    DNASUi 5318.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000070846 ; ENSP00000070846 ; ENSG00000057294 . [Q99959-1 ]
    ENST00000340811 ; ENSP00000342800 ; ENSG00000057294 . [Q99959-2 ]
    GeneIDi 5318.
    KEGGi hsa:5318.
    UCSCi uc001rlj.4. human. [Q99959-1 ]
    uc001rlk.4. human. [Q99959-2 ]

    Organism-specific databases

    CTDi 5318.
    GeneCardsi GC12M032943.
    GeneReviewsi PKP2.
    HGNCi HGNC:9024. PKP2.
    HPAi HPA014314.
    HPA056908.
    MIMi 602861. gene.
    609040. phenotype.
    neXtProti NX_Q99959.
    Orphaneti 293899. 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.
    PharmGKBi PA33357.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG273513.
    HOGENOMi HOG000092312.
    HOVERGENi HBG009157.
    InParanoidi Q99959.
    KOi K12642.
    OMAi SWHQSSF.
    OrthoDBi EOG76HQ1V.
    PhylomeDBi Q99959.
    TreeFami TF321877.

    Enzyme and pathway databases

    SignaLinki Q99959.

    Miscellaneous databases

    ChiTaRSi PKP2. human.
    GeneWikii PKP2.
    GenomeRNAii 5318.
    NextBioi 20572.
    PROi Q99959.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q99959.
    CleanExi HS_PKP2.
    Genevestigatori Q99959.

    Family and domain databases

    Gene3Di 1.25.10.10. 3 hits.
    InterProi IPR011989. ARM-like.
    IPR016024. ARM-type_fold.
    IPR000225. Armadillo.
    IPR028435. Plakophilin/d_Catenin.
    [Graphical view ]
    PANTHERi PTHR10372. PTHR10372. 1 hit.
    Pfami PF00514. Arm. 1 hit.
    [Graphical view ]
    SMARTi SM00185. ARM. 4 hits.
    [Graphical view ]
    SUPFAMi SSF48371. SSF48371. 2 hits.
    PROSITEi PS50176. ARM_REPEAT. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.
      , 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. 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. 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. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-197 AND SER-329, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    10. 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. 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.

    Entry informationi

    Entry nameiPKP2_HUMAN
    AccessioniPrimary (citable) accession number: Q99959
    Secondary accession number(s): A0AV37
    , B8QFA1, B8QGS6, B8QGS7, D3DUW9, Q4VC01, Q99960
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 23, 2002
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 140 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 12
      Human chromosome 12: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3