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5318 PKP2

5318

PKP2

plakophilin 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition plakophilin 2

研究结论

Date Results Publications
2021-03-20 13:27:00 Clinical and Molecular Data Define a Diagnosis of Arrhythmogenic Cardiomyopathy in a Carrier of a Brugada-Syndrome-Associated PKP2 Mutation. 32443836
2020-09-05 13:52:00 High risk of heart failure associated with desmoglein-2 mutations compared to plakophilin-2 mutations in arrhythmogenic right ventricular cardiomyopathy/dysplasia. 30790397
2020-04-04 10:26:00 Studied possible association of plakophilin-2 (PKP2) variants with catecholaminergic polymorphic ventricular tachycardia (CPVT) and exercise-associated, autopsy-negative sudden unexplained death in the young. 30678776
2020-01-18 10:21:00 high PKP2 expression is not associated with poor survival in different gender of lung cancer patients, and is an unfavorable and independent prognostic biomarker for lung adenocarcinoma patients, but not for lung squamous carcinoma patients 31126818
2019-06-23 00:09:00 The prevalence of the majority of non-pathological genetic variations is similar in the Latvian ARVD-C patients and the European population. Possibly, pathogenic variations were found only in 10% of our registry patients, which could mean that PKP2 and DSG2 are not the most commonly affected genes in the Latvian population. 30391969

名称对应

Type IDs
Synonymous ARVD9
Gene
UniProtKB-ID: PKP2_HUMAN
UniprotKB: Q99959
UniParc: UPI00001FB886, UPI000013C576
EMBL: AC087588, CH471116, AC087311, BC094762, EU492903, BC126199, EU520484, EU520483, X97675, BC143966
Ensembl: ENSG00000057294
KO: hsa:5318
Nucleutide sequences
EMBL-CDS: EAW88511.1, AAH94762.1, EAW88515.1, CAA66265.1, ACD03459.1, AAI26200.1, ACD13292.1, AAI43967.1, EAW88514.1, CAA66264.1, ACD13293.1
Ensembl_TRS: ENST00000070846, ENST00000340811
Protein sequencees
Ensembl_PRO: ENSP00000342800, ENSP00000070846
RefSeq: NP_004563.2, NP_001005242.2
Others
UniRef100: UniRef100_Q99959
UniRef90: UniRef90_Q99959
UniRef50: UniRef50_Q99959
UniGene: Hs.164384
CCDS: CCDS31771.1, CCDS8731.1

全选

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