Property Summary

NCBI Gene PubMed Count 78
PubMed Score 125.51
PubTator Score 137.60

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (7)

Disease Target Count P-value
lung carcinoma 2844 3.0233787055187E-9
cystic fibrosis 1670 7.98547490426064E-7
lung cancer 4473 5.15857715039572E-6
Breast cancer 3099 2.28336093831785E-4
pediatric high grade glioma 2712 2.83130890748524E-4
interstitial cystitis 2299 3.1211035796627E-4
glioblastoma 5572 3.70639647421552E-4
posterior fossa group A ependymoma 1511 6.65129093499045E-4
psoriasis 6685 7.69775581620963E-4
osteosarcoma 7933 9.81589602069909E-4
acute myeloid leukemia 785 0.00237330053878067
pituitary cancer 1972 0.0025549016799541
ovarian cancer 8492 0.00465776310214036
intraductal papillary-mucinous adenoma (IPMA) 2956 0.00843237120975606
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.0113491108645766
intraductal papillary-mucinous carcinoma (IPMC) 2988 0.0129805985231745
atypical teratoid/rhabdoid tumor 1095 0.0236000008617544
primitive neuroectodermal tumor 3031 0.0248124876867823
Barrett's esophagus 185 0.0367120411551434
urothelial carcinoma 318 0.0442374245300883
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Arrhythmogenic right ventricular cardiomyopathy 27 7.86 3.9
Disease Target Count Z-score Confidence
Cardiomyopathy 110 0.0 4.0
Disease Target Count Z-score Confidence
Brugada syndrome 26 4.193 2.1
Dilated cardiomyopathy 51 3.566 1.8

Expression

 GWAS Trait (1)

Gene RIF (61)

PMID Text
26995964 PKP2 regulates Wnt activity during adipogenic and cardiomyogenic differentiation in arrhythmogenic right ventricular cardiomyopathy.
26321091 Family members - desmosomal mutation carriers who restricted exercise at or below the upper bound of the American Heart Association goal were less likely to be diagnosed and had no Ventricular Tachycardia.
26260507 A heterozygous pathogenic variant in the plakophilin-2 (c.2392A>G, p.T798A) gene was found in an arrhythmogenic LV cardiomyopathy patient and his deceased mother who had had arrhythmogenic cardiomyopathy affecting both ventricles.
25972099 Data suggest juxtamembrane regions/domains of desmocollin-2 (DSC2), plakophilin 2 (PKP2), and plakophilin 3 (PKP3) are involved in desmosome formation in epithelial cells; DSC2 participates in desmosome formation in absence of desmoglein 2 (DSG2).
25936878 Exercise test is valuable for the diagnosis of ARVC in patients with PKP2 gene mutation.
25900994 Case Report: PKP2/DSP mutations in patient with Brugada syndrome and ventricular tachycardia.
25889434 Plakofilin2 mutation plays an important role in the pathogenesis of Brugada syndrome.
25857910 The introduction of the PKP2 R735X mutation into mice resulted in an exercise-dependent arrhythmogenic right ventricular cardiomyopathy.
25786693 Extreme variability in clinical penetrance for a splice-site PKP2 mutation was found in a Bangladeshi family. Some family members were affected by arrhythmogenic right ventricular cardiomyopathy, and some are asymptomatic.
25398255 Currently, 13 genes have been associated with the disease but nearly 40 % of clinically diagnosed cases remain without a genetic diagnosis.
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AA Sequence

MAAPGAPAEYGYIRTVLGQQILGQLDSSSLALPSEAKLKLAGSSGRGGQTVKSLRIQEQVQQTLARKGRS      1 - 70
SVGNGNLHRTSSVPEYVYNLHLVENDFVGGRSPVPKTYDMLKAGTTATYEGRWGRGTAQYSSQKSVEERS     71 - 140
LRHPLRRLEISPDSSPERAHYTHSDYQYSQRSQAGHTLHHQESRRAALLVPPRYARSEIVGVSRAGTTSR    141 - 210
QRHFDTYHRQYQHGSVSDTVFDSIPANPALLTYPRPGTSRSMGNLLEKENYLTAGLTVGQVRPLVPLQPV    211 - 280
TQNRASRSSWHQSSFHSTRTLREAGPSVAVDSSGRRAHLTVGQAAAGGSGNLLTERSTFTDSQLGNADME    281 - 350
MTLERAVSMLEADHMLPSRISAAATFIQHECFQKSEARKRVNQLRGILKLLQLLKVQNEDVQRAVCGALR    351 - 420
NLVFEDNDNKLEVAELNGVPRLLQVLKQTRDLETKKQITDHTVNLRSRNGWPGAVAHACNPSTLGGQGGR    421 - 490
ITRSGVRDQPDQHGLLWNLSSNDKLKNLMITEALLTLTENIIIPFSGWPEGDYPKANGLLDFDIFYNVTG    491 - 560
CLRNMSSAGADGRKAMRRCDGLIDSLVHYVRGTIADYQPDDKATENCVCILHNLSYQLEAELPEKYSQNI    561 - 630
YIQNRNIQTDNNKSIGCFGSRSRKVKEQYQDVPMPEEKSNPKGVEWLWHSIVIRMYLSLIAKSVRNYTQE    631 - 700
ASLGALQNLTAGSGPMPTSVAQTVVQKESGLQHTRKMLHVGDPSVKKTAISLLRNLSRNLSLQNEIAKET    701 - 770
LPDLVSIIPDTVPSTDLLIETTASACYTLNNIIQNSYQNARDLLNTGGIQKIMAISAGDAYASNKASKAA    771 - 840
SVLLYSLWAHTELHHAYKKAQFKKTDFVNSRTAKAYHSLKD                                 841 - 881
//

Text Mined References (89)

PMID Year Title
26995964 2015 [THE EFFECT OF PLAKOPHILIN-2 GENE MUTATIONS ON ACTIVITY OF THE CANONICAL Wnt SIGNALING PATHWAY].
26321091 2016 Safety of American Heart Association-recommended minimum exercise for desmosomal mutation carriers.
26260507 2015 Arrhythmogenic Left Ventricular Cardiomyopathy: Suspected by Cardiac Magnetic Resonance Imaging, Confirmed by Identification of a Novel Plakophilin-2 Variant.
25972099 2015 Desmocollin-2 alone forms functional desmosomal plaques, with the plaque formation requiring the juxtamembrane region and plakophilins.
25936878 2015 Epsilon wave uncovered by exercise test in a patient with desmoplakin-positive arrhythmogenic right ventricular cardiomyopathy.
25900994 2015 Epicardial Ventricular Tachycardia Ablation in a Patient With Brugada ECG Pattern and Mutation of PKP2 and DSP Genes.
25889434 2015 Is Brugada syndrome a variant of arrhythmogenic cardiomyopathy?
25857910 2015 Exercise triggers ARVC phenotype in mice expressing a disease-causing mutated version of human plakophilin-2.
25786693 2015 Extreme variability in clinical penetrance for a splice-site Plakophilin-2 mutation in a Bangladeshi family.
25468996 2014 E-cadherin interactome complexity and robustness resolved by quantitative proteomics.
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