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Q99959

- PKP2_HUMAN

UniProt

Q99959 - PKP2_HUMAN

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Protein

Plakophilin-2

Gene
PKP2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

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

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.4 Publications
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. 2 Publications
VAR_021149
Natural varianti631 – 6311Y → C in ARVD9. 1 Publication
VAR_065716
Natural varianti654 – 6541K → Q in ARVD9; impairs protein stability. 2 Publications
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.

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.
Contains 8 ARM repeats.

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. 2 Publications
VAR_021149
Natural varianti631 – 6311Y → C in ARVD9. 1 Publication
VAR_065716
Natural varianti654 – 6541K → Q in ARVD9; impairs protein stability. 2 Publications
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. VSP_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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 139 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

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