Details for: PKP2

Gene ID: 5318

Symbol: PKP2

Ensembl ID: ENSG00000057294

Description: plakophilin 2

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 139.6378
    Cell Significance Index: -21.7200
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 84.5676
    Cell Significance Index: -21.4500
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 45.4146
    Cell Significance Index: -18.4500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 17.6730
    Cell Significance Index: -21.7900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 9.0499
    Cell Significance Index: 1315.5200
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 8.7649
    Cell Significance Index: -23.4800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 5.7367
    Cell Significance Index: 440.2300
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 4.6077
    Cell Significance Index: 28.6300
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 4.0393
    Cell Significance Index: 86.3400
  • Cell Name: peg cell (CL4033014)
    Fold Change: 3.9349
    Cell Significance Index: 90.9100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 3.6355
    Cell Significance Index: 251.4200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 2.9311
    Cell Significance Index: 5518.9600
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 2.6708
    Cell Significance Index: 40.0200
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 2.5313
    Cell Significance Index: -5.5400
  • Cell Name: salivary gland glandular cell (CL1001596)
    Fold Change: 2.4326
    Cell Significance Index: 13.5400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 2.3751
    Cell Significance Index: 63.4200
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 2.1146
    Cell Significance Index: 16.0400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 2.0043
    Cell Significance Index: 90.8500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.9187
    Cell Significance Index: 208.7000
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: 1.7526
    Cell Significance Index: 17.6800
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 1.5240
    Cell Significance Index: 22.5000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.4964
    Cell Significance Index: 40.7300
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.4672
    Cell Significance Index: 24.7200
  • Cell Name: epithelial cell of sweat gland (CL1000448)
    Fold Change: 1.3293
    Cell Significance Index: 0.9500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.2782
    Cell Significance Index: 253.6700
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 1.2419
    Cell Significance Index: 35.4400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.2264
    Cell Significance Index: 26.5700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.2083
    Cell Significance Index: 767.3800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.1924
    Cell Significance Index: 34.3600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.9549
    Cell Significance Index: 44.5200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.8391
    Cell Significance Index: 757.6700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.8142
    Cell Significance Index: 21.4100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.7024
    Cell Significance Index: 14.9600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.6120
    Cell Significance Index: 75.2500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.5865
    Cell Significance Index: 16.3900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5674
    Cell Significance Index: 92.2800
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.4531
    Cell Significance Index: 9.4000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.4493
    Cell Significance Index: 245.3700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.4068
    Cell Significance Index: 21.1300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.3947
    Cell Significance Index: 41.1000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3494
    Cell Significance Index: 62.9800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3266
    Cell Significance Index: 32.3100
  • Cell Name: sebaceous gland cell (CL2000021)
    Fold Change: 0.3169
    Cell Significance Index: 0.4100
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 0.3154
    Cell Significance Index: 2.8000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.2918
    Cell Significance Index: 201.8500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.2755
    Cell Significance Index: 8.8300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1930
    Cell Significance Index: 6.7800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.1885
    Cell Significance Index: 13.3300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.1563
    Cell Significance Index: 11.6500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.1538
    Cell Significance Index: 10.3400
  • Cell Name: serous secreting cell of bronchus submucosal gland (CL4033005)
    Fold Change: 0.1109
    Cell Significance Index: 1.1100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0935
    Cell Significance Index: 41.3500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0813
    Cell Significance Index: 2.0900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0764
    Cell Significance Index: 13.0400
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.0682
    Cell Significance Index: 1.0600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0621
    Cell Significance Index: 11.8200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0458
    Cell Significance Index: 62.3400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0335
    Cell Significance Index: 6.7300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0302
    Cell Significance Index: 46.4700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0200
    Cell Significance Index: 7.1600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0180
    Cell Significance Index: 2.4700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0173
    Cell Significance Index: 31.8200
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.0020
    Cell Significance Index: 0.0300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0035
    Cell Significance Index: -2.6200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0048
    Cell Significance Index: -2.9800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0096
    Cell Significance Index: -5.3900
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0179
    Cell Significance Index: -0.1900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0215
    Cell Significance Index: -9.7800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0256
    Cell Significance Index: -18.7400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0277
    Cell Significance Index: -20.9400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0285
    Cell Significance Index: -2.9100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0308
    Cell Significance Index: -3.9800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0405
    Cell Significance Index: -8.5300
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.0414
    Cell Significance Index: -0.5300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0452
    Cell Significance Index: -5.1800
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0460
    Cell Significance Index: -1.1500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0514
    Cell Significance Index: -5.9900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0520
    Cell Significance Index: -0.7100
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0634
    Cell Significance Index: -1.3700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0677
    Cell Significance Index: -3.1800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0699
    Cell Significance Index: -20.1300
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0732
    Cell Significance Index: -1.4700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0803
    Cell Significance Index: -10.3000
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0818
    Cell Significance Index: -9.3400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1187
    Cell Significance Index: -6.6600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1883
    Cell Significance Index: -8.3300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1993
    Cell Significance Index: -23.5000
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.2059
    Cell Significance Index: -2.6400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2477
    Cell Significance Index: -6.6300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2521
    Cell Significance Index: -19.9700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2549
    Cell Significance Index: -15.6300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2601
    Cell Significance Index: -9.8500
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.2657
    Cell Significance Index: -1.8000
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: -0.2716
    Cell Significance Index: -2.5800
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.2754
    Cell Significance Index: -3.8600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.3137
    Cell Significance Index: -19.2800
  • Cell Name: seromucus secreting cell (CL0000159)
    Fold Change: -0.3232
    Cell Significance Index: -6.7400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.3326
    Cell Significance Index: -5.7000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.3337
    Cell Significance Index: -21.0300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.3409
    Cell Significance Index: -21.9900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** PKP2 is a cytoplasmic protein that belongs to the ERM (ezrin/radixin/moesin) protein family, which is known for its ability to regulate cell shape, adhesion, and migration. PKP2 is characterized by its ability to bind to intermediate filaments, which provides structural support to cells, and its interaction with other proteins such as alpha-catenin and cadherins, which are essential for maintaining cell-cell adhesion. PKP2 is also involved in the regulation of cardiac conduction, as it interacts with sodium channels and regulates their activity. **Pathways and Functions** PKP2 is involved in several key pathways, including: 1. **Adherens Junction**: PKP2 interacts with alpha-catenin and cadherins to form adherens junctions, which are critical for maintaining cell-cell adhesion and integrity. 2. **Bundle of His Cell-Purkinje Myocyte Adhesion**: PKP2 is involved in the assembly and organization of desmosomes, which are essential for maintaining the structural integrity of cardiac myocytes. 3. **Cardiac Muscle Cell Action Potential**: PKP2 regulates the activity of sodium channels, which are critical for the generation of the cardiac action potential. 4. **Cell-Cell Signaling**: PKP2 interacts with other proteins to regulate cell-cell signaling, which is essential for maintaining cardiac conduction and tissue function. **Clinical Significance** Dysregulation of PKP2 has been implicated in various cardiac disorders, including: 1. **Arrhythmias**: Mutations in PKP2 have been associated with arrhythmias, including atrial fibrillation and ventricular tachycardia. 2. **Cardiac Conduction Disorders**: PKP2 is involved in the regulation of cardiac conduction, and mutations in this gene can lead to conduction disorders. 3. **Heart Failure**: PKP2 has been implicated in the regulation of cardiac function, and dysregulation of this gene may contribute to heart failure. In conclusion, PKP2 is a critical protein that plays a key role in maintaining cell-cell adhesion, cardiac conduction, and tissue integrity. Dysregulation of this gene has been implicated in various cardiac disorders, highlighting the importance of further research into the mechanisms of PKP2 function and its role in maintaining cardiac health.

Genular Protein ID: 1479876865

Symbol: PKP2_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q99959 A0AV37 B8QFA1 B8QGS6 B8QGS7 D3DUW9 Q4VC01 Q99960

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 13 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 41 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 5 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 2 RefSeq 2 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8922383

Title: Plakophilins 2a and 2b: constitutive proteins of dual location in the karyoplasm and the desmosomal plaque.

PubMed ID: 8922383

DOI: 10.1083/jcb.135.4.1009

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10374264

Title: Desmosomal plakophilin 2 as a differentiation marker in normal and malignant tissues.

PubMed ID: 10374264

DOI: 10.1046/j.1432-0436.1999.6450277.x

PubMed ID: 10852826

Title: Interaction of plakophilins with desmoplakin and intermediate filament proteins: an in vitro analysis.

PubMed ID: 10852826

DOI: 10.1242/jcs.113.13.2471

PubMed ID: 11416169

Title: Nuclear particles containing RNA polymerase III complexes associated with the junctional plaque protein plakophilin 2.

PubMed ID: 11416169

DOI: 10.1073/pnas.141219498

PubMed ID: 11790773

Title: Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling.

PubMed ID: 11790773

DOI: 10.1074/jbc.m108765200

PubMed ID: 12941695

Title: Functional analysis of C-TAK1 substrate binding and identification of PKP2 as a new C-TAK1 substrate.

PubMed ID: 12941695

DOI: 10.1093/emboj/cdg426

PubMed ID: 17535849

Title: A unique and specific interaction between alphaT-catenin and plakophilin-2 in the area composita, the mixed-type junctional structure of cardiac intercalated discs.

PubMed ID: 17535849

DOI: 10.1242/jcs.004713

PubMed ID: 17525332

Title: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.

PubMed ID: 17525332

DOI: 10.1126/science.1140321

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19533476

Title: Arrhythmogenic right ventricular cardiomyopathy plakophilin-2 mutations disrupt desmosome assembly and stability.

PubMed ID: 19533476

DOI: 10.1080/15419060903009329

PubMed ID: 19369195

Title: Large-scale proteomics analysis of the human kinome.

PubMed ID: 19369195

DOI: 10.1074/mcp.m800588-mcp200

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21062920

Title: Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations.

PubMed ID: 21062920

DOI: 10.1093/cvr/cvq353

PubMed ID: 20859650

Title: E-cadherin and plakoglobin recruit plakophilin3 to the cell border to initiate desmosome assembly.

PubMed ID: 20859650

DOI: 10.1007/s00018-010-0531-3

PubMed ID: 21378009

Title: Plakophilin 2A is the dominant isoform in human heart tissue: consequences for the genetic screening of arrhythmogenic right ventricular cardiomyopathy.

PubMed ID: 21378009

DOI: 10.1136/hrt.2010.205880

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 23884246

Title: Plakophilin 2 affects cell migration by modulating focal adhesion dynamics and integrin protein expression.

PubMed ID: 23884246

DOI: 10.1038/jid.2013.266

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25208567

Title: Plakophilin 3 mediates Rap1-dependent desmosome assembly and adherens junction maturation.

PubMed ID: 25208567

DOI: 10.1091/mbc.e14-05-0968

PubMed ID: 24129315

Title: Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.

PubMed ID: 24129315

DOI: 10.1074/mcp.o113.027870

PubMed ID: 28169297

Title: Comparative influenza protein interactomes identify the role of plakophilin 2 in virus restriction.

PubMed ID: 28169297

DOI: 10.1038/ncomms13876

PubMed ID: 34368962

Title: Impaired function of epithelial plakophilin-2 is associated with periodontal disease.

PubMed ID: 34368962

DOI: 10.1111/jre.12918

PubMed ID: 35959657

Title: Loss of Nuclear Envelope Integrity and Increased Oxidant Production Cause DNA Damage in Adult Hearts Deficient in PKP2: A Molecular Substrate of ARVC.

PubMed ID: 35959657

DOI: 10.1161/circulationaha.122.060454

PubMed ID: 22781308

Title: Molecular insights into arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 missense mutations.

PubMed ID: 22781308

DOI: 10.1161/circgenetics.111.961854

PubMed ID: 15489853

Title: Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.

PubMed ID: 15489853

DOI: 10.1038/ng1461

PubMed ID: 20031617

Title: Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

PubMed ID: 20031617

DOI: 10.1161/circgenetics.109.858217

PubMed ID: 19955750

Title: Missense variants in plakophilin-2 in arrhythmogenic right ventricular cardiomyopathy patients -- disease-causing or innocent bystanders?

PubMed ID: 19955750

DOI: 10.1159/000263456

PubMed ID: 19863551

Title: Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia.

PubMed ID: 19863551

DOI: 10.1111/j.1399-0004.2009.01282.x

Sequence Information:

  • Length: 881
  • Mass: 97415
  • Checksum: 947838B0C8275D5D
  • Sequence:
    • MAAPGAPAEY GYIRTVLGQQ ILGQLDSSSL ALPSEAKLKL AGSSGRGGQT VKSLRIQEQV 
QQTLARKGRS SVGNGNLHRT SSVPEYVYNL HLVENDFVGG RSPVPKTYDM LKAGTTATYE 
GRWGRGTAQY SSQKSVEERS LRHPLRRLEI SPDSSPERAH YTHSDYQYSQ RSQAGHTLHH 
QESRRAALLV PPRYARSEIV GVSRAGTTSR QRHFDTYHRQ YQHGSVSDTV FDSIPANPAL 
LTYPRPGTSR SMGNLLEKEN YLTAGLTVGQ VRPLVPLQPV TQNRASRSSW HQSSFHSTRT 
LREAGPSVAV DSSGRRAHLT VGQAAAGGSG NLLTERSTFT DSQLGNADME MTLERAVSML 
EADHMLPSRI SAAATFIQHE CFQKSEARKR VNQLRGILKL LQLLKVQNED VQRAVCGALR 
NLVFEDNDNK LEVAELNGVP RLLQVLKQTR DLETKKQITD HTVNLRSRNG WPGAVAHACN 
PSTLGGQGGR ITRSGVRDQP DQHGLLWNLS SNDKLKNLMI TEALLTLTEN IIIPFSGWPE 
GDYPKANGLL DFDIFYNVTG CLRNMSSAGA DGRKAMRRCD GLIDSLVHYV RGTIADYQPD 
DKATENCVCI LHNLSYQLEA ELPEKYSQNI YIQNRNIQTD NNKSIGCFGS RSRKVKEQYQ 
DVPMPEEKSN PKGVEWLWHS IVIRMYLSLI AKSVRNYTQE ASLGALQNLT AGSGPMPTSV 
AQTVVQKESG LQHTRKMLHV GDPSVKKTAI SLLRNLSRNL SLQNEIAKET LPDLVSIIPD 
TVPSTDLLIE TTASACYTLN NIIQNSYQNA RDLLNTGGIQ KIMAISAGDA YASNKASKAA 
SVLLYSLWAH TELHHAYKKA QFKKTDFVNS RTAKAYHSLK D

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.