關於 pkp2 omim ，我們在網路上蒐集到這些相關的討論、資訊與評價

「pkp2 omim」的推薦目錄：

看看搜尋的結果吧：

pkp2 omim 在 Entry - *602861 - PLAKOPHILIN 2; PKP2 - OMIM 的相關結果

PLAKOPHILIN 2; PKP2. HGNC Approved Gene Symbol: PKP2. Cytogenetic location: 12p11.21 Genomic coordinates (GRCh38): 12:32,790,755-32,896,777 (from NCBI). ... <看更多>

pkp2 omim 在 Entry - #609040 - ARRHYTHMOGENIC RIGHT ... - OMIM 的相關結果

... that this form of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is caused by heterozygous mutations in the PKP2 gene (602861), ... ... <看更多>

pkp2 omim 在 Entry - %602086 - ARRHYTHMOGENIC RIGHT ... - OMIM 的相關結果

12p11.21 · Arrhythmogenic right ventricular dysplasia 9, AD, 3, 609040 · PKP2 · 602861 · 14q12-q22 · Arrhythmogenic right ventricular dysplasia 3 ... ... <看更多>

pkp2 omim 在 Entry - %602087 - ARRHYTHMOGENIC RIGHT ... - OMIM 的相關結果

12p11.21 · Arrhythmogenic right ventricular dysplasia 9, AD, 3, 609040 · PKP2 · 602861 · 14q12-q22 · Arrhythmogenic right ventricular dysplasia 3 ... ... <看更多>

pkp2 omim 在 Entry - #610193 - ARRHYTHMOGENIC RIGHT ... - OMIM 的相關結果

12p11.21 · Arrhythmogenic right ventricular dysplasia 9, AD, 3, 609040 · PKP2 · 602861 ... and PKP2 (602861) genes, and identified 5 missense mutations, ... ... <看更多>

pkp2 omim 在 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA ... 的相關結果

... caused by mutation in the PKP2 gene (602861) on chromosome 12p11; ... including discussion of the involvement of the DSP, PKP2, DSG2, DSC2, ... ... <看更多>

pkp2 omim 在 5318 - Gene ResultPKP2 plakophilin 2 [ (human)] - NCBI 的相關結果

PKP2 plakophilin 2 [ (human)]. Gene ID: 5318, updated on 6-Nov-2022. Summary. This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene ... ... <看更多>

pkp2 omim 在 PKP2 - an overview | ScienceDirect Topics 的相關結果

Plakophilin2 is a desmosomal protein found in the intercalated discs of cardiac cells. The human gene (PKP2), which encodes plakophilin2, is mutated in patients ... ... <看更多>

pkp2 omim 在 PKP2 gene: MedlinePlus Genetics 的相關結果

The PKP2 gene provides instructions for making a protein called plakophilin 2. Learn about this gene and related health conditions. ... <看更多>

pkp2 omim 在 Plakophilin-2 - Wikipedia 的相關結果

Plakophilin-2 is a protein that in humans is encoded by the PKP2 gene. ... External IDs, OMIM: 602861 MGI: 1914701 HomoloGene: 3364 GeneCards: PKP2 ... ... <看更多>

pkp2 omim 在 PKP2 | Clinvar - Cardiomyopathy Database - InStem 的相關結果

Pathogenic, MedGen:C1836906 OMIM:609040, -1. c.2146-?_2489+?del, None, deletion. Arrhythmogenic right ventricular cardiomyopathy, type 9. ... <看更多>

pkp2 omim 在 Pkp2 Mouse Gene Details | plakophilin 2 的相關結果

Phenotype data for mouse gene Pkp2. Discover Pkp2's significant phenotypes, ... in comparison to human disease reports in OMIM, Orphanet, and DECIPHER. ... <看更多>

pkp2 omim 在 PKP2 - Genomics England PanelApp 的相關結果

PKP2. plakophilin 2. OMIM: 602861, Gene2Phenotype ... Red PKP2 in Dilated Cardiomyopathy and conduction defects. Level 3: Cardiomyopathy ... <看更多>

pkp2 omim 在 Human Gene PKP2 (ENST00000340811.9) from GENCODE ... 的相關結果

Description: Homo sapiens plakophilin 2 (PKP2), transcript variant 2a, mRNA. (from RefSeq NM_001005242) RefSeq Summary (NM_001005242): This gene encodes a ... ... <看更多>

pkp2 omim 在 Pkp2 (plakophilin 2) - Rat Genome Database 的相關結果

Orthologous to human PKP2 (plakophilin 2); PARTICIPATES IN arrhythmogenic right ventricular cardiomyopathy pathway; ... Imported Disease Annotations - OMIM. ... <看更多>

pkp2 omim 在 PKP2 - Curated Genes - ClinGen 的相關結果

PKP2 · Gene-Disease Validity · Clinical Actionability ... ... <看更多>

pkp2 omim 在 Incidentally identified genetic variants in arrhythmogenic right ... 的相關結果

The most common genes associated with ARVC are PKP2 (OMIM 602861), DSP (OMIM 125647), DSG2 (OMIM 125671), DSC2 (OMIM 125645), JUP (OMIM ... ... <看更多>

pkp2 omim 在 PKP2 | Gene - VarSome 的相關結果

PKP2 | Gene results | VarSome, the Human Genomics Community. ... OMIM. No data available. VarSome Premium. New. Gene basic info. Description. plakophilin 2. ... <看更多>

pkp2 omim 在 The PKP2 gene homepage - Global Variome shared LOVD 的相關結果

Gene symbol, PKP2 ... Version, PKP2:221101 ... OMIM - Diseases, ARVD9 (dysplasia, arrhythmogenic right ventricular, type 9). HGMD, PKP2. ... <看更多>

pkp2 omim 在 PKP2 - MARRVEL 的相關結果

OMIM Description of PKP2. PLAKOPHILIN 2; PKP2. Plakophilins are armadillo repeat-containing proteins that are localized in the desmosomal plaque and cell ... ... <看更多>

pkp2 omim 在 PKP2 Gene 的相關結果

phenotypes associated with PKP2 gene from the curated OMIM Gene-Disease Associations dataset. Pathway Commons Protein-Protein Interactions, interacting proteins ... ... <看更多>

pkp2 omim 在 PKP2 gene with submissions organized by classifications 的相關結果

PKP2 · HGNC:9024. familial isolated arrhythmogenic right ventricular dysplasia. MONDO:0016342. Submitted as: OMIM:609040. AD. 05/26/2021. Evaluated. ... <看更多>

pkp2 omim 在 Pkp2 MGI Mouse Gene Detail - MGI:1914701 - plakophilin 2 的相關結果

View mouse Pkp2 Chr16:16031209-16090576 with: phenotypes, sequences, polymorphisms, proteins, references, function, expression. ... <看更多>

pkp2 omim 在疾病分類中文名稱英文名稱疾病OMIM# 基因遺傳模式可執行 ... 的相關結果

OMIM #. 基因. 遺傳模式可執行UPGD l. 盛行率. 病症 ... PKP2. Arrhythmogenic right ventricular cardiomyopathy, type 8. 607450. ... <看更多>

pkp2 omim 在 Pathogenic variants in plakophilin-2 gene (PKP2) are ... 的相關結果

All probands were screened for genetic variants in PKP2, the most frequently affected gene in ARVC patients (https://www.omim.org/entry/602861). ... <看更多>

pkp2 omim 在 Human Plakophilin 2 (PKP2) ELISA Kit | Abbexa Ltd 的相關結果

Human Plakophilin 2 (PKP2) ELISA Kit is an ELISA Kit for the in vitro ... Graph showing standard OD data for Human Plakophilin 2 (PKP2) ... OMIM, 602861. ... <看更多>

pkp2 omim 在 Phenotypic Variability of a Pathogenic PKP2 Mutation in an ... 的相關結果

Mutations in the PKP2 gene, whose gene–phenotype relationships are available in Online Mendelian Inheritance in Man as OMIM* 602861, ... ... <看更多>

pkp2 omim 在 Exploring digenic inheritance in arrhythmogenic cardiomyopathy 的相關結果

members with PKP2 mutations we determined all genes that harbor variants in affected but not in healthy ... (OMIM %602,087) at 2q32.1–32.3 [8], and ARVD6. ... <看更多>

pkp2 omim 在 ODCs 的相關結果

1 OMIM reference - See 1 associated gene ... (UniProt - OMIM). INTERACTOME ASSOCIATIONS. (click on a score value to see the evidence). POLR3A, (0.79), PKP2 ... ... <看更多>

pkp2 omim 在 Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia ... 的相關結果

Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the PKP2 Gene · Summary and Pricing · Clinical Features and Genetics · Citations · Ordering/Specimens ... ... <看更多>

pkp2 omim 在 Anti-PKP2 Antibody (C17732) Rabbit Polyclonal 的相關結果

C17732 Anti-PKP2 Antibody detects endogenous levels of total PKP2 protein. Validated for WB and ELISA. Reactive for Human, Rat. ... <看更多>

pkp2 omim 在ブルガダ症候群 - MGenReviews 的相關結果

Type Name Gene Symbol
Type Name Gene Symbol
single nucleotide variant NM_001005242.3(PKP2):c.1379‑1998C>T PKP2
single nucleotide variant NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) PKP2 ... <看更多>

pkp2 omim 在 PKP2 - Gene sequencing 的相關結果

PKP2. Lab method. Sanger Gene Sequencing. Turnaround time. 2 months. Location. Location AMC ... Arrhythmogenic right ventricular dysplasia 9 (OMIM: 609040) ... ... <看更多>

pkp2 omim 在 spectrum of mutations and clinical impact in practice | EP ... 的相關結果

Direct sequencing of the five genes (JUP, DSP, PKP2, DSG2, ... PKP2 (OMIM 602861, MN_004572.3, transcript 881aa), DSG2 (OMIM 125671, ... ... <看更多>

pkp2 omim 在 Brugada syndrome: current concepts and genetic background 的相關結果

BrS15: Locus: 12p11; OMIM: 602861; Gene: PKP2; Protein: Desmosome protein ... Indeed, in vitro characterization of the PKP2 mutations detected in patients ... ... <看更多>

pkp2 omim 在 CORUM - Helmholtz Zentrum München 的相關結果

AnkG-PKP2-Cx43 complex ... Ank3-Pkp2-Gja1 complex ... Gene name synonyms, Organism, UniProt ID, Entrez-ID, OMIM-ID, Stoechiometrie ... ... <看更多>

pkp2 omim 在 Gene PKP2 - Arrhythmogenic right ventricular dysplasia 9 的相關結果

Gene PKP2 – Arrhythmogenic right ventricular dysplasia 9. OMIM 602861. Newsletter. Be the first to know all the latest news of InterGenetics in Greece and ... ... <看更多>

pkp2 omim 在 arrhythmogenic right ventricular dysplasia 9 的相關結果

Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the PKP2 gene. exactMatch. https://omim.org/ ... ... <看更多>

pkp2 omim 在 Human Phenotype Ontology - MSeqDR 的相關結果

... right ventricular cardiomyopathy, type 11, 610476, C1864850, OMIM, 1, 1113, 3036, 125645 ... Genes (9) :DES DSC2 DSG2 DSP JUP PKP2 RYR2 TGFB3 TMEM43 ... <看更多>

pkp2 omim 在 Brugada-Syndrome-some-genetic-aspects.pdf - Cardiolatina 的相關結果

cardiac sodium channel, Nav1.5. BrS11. PKP2. Locus: 12p11; OMIM: 602861. Plakophilin-2 (PKP2). BrS15, SUNDS, arrhythmogenic cardiomyopathy (AC). ↓peak I. ... <看更多>

pkp2 omim 在 KEGG T01001: 5318 的相關結果

09160 Human Diseases 09166 Cardiovascular disease 05412 Arrhythmogenic right ventricular cardiomyopathy 5318 (PKP2). BRITE hierarchy ... OMIM: 602861 ... ... <看更多>

pkp2 omim 在 arrhythmogenic right ventricular dysplasia 9 的相關結果

Apply. Source. Clear Apply. References. Clear Apply. PKP2. Homo sapiens, is implicated in, arrhythmogenic right ventricular dysplasia 9. IAGP. OMIM via RGD. ... <看更多>

pkp2 omim 在 Anti-Plakophilin 2/PKP2 antibody (ab220840) - Abcam 的相關結果

Rabbit polyclonal Plakophilin 2/PKP2 antibody. Validated in IHC, ICC/IF and tested in Human. Immunogen corresponding to recombinant fragment. ... <看更多>

pkp2 omim 在 Disorder Details - RCPA 的相關結果

PKP2 (also called ). Long Name. plakophilin 2 (OMIM 602861). Laboratories. Associated Disorders. OMIM 609040 : Arrhythmogenic right ventricular dysplasia 9. ... <看更多>

pkp2 omim 在 PKP2 (plakophilin 2) | Gene Report - BioGPS 的相關結果

Symbol: PKP2. Description: plakophilin 2. Accessions: 5318 (NCBI Gene) ENSG00000057294 (Ensembl) Q99959 (UniProt) 602861 (OMIM) 3364 (HomoloGene). ... <看更多>

pkp2 omim 在 PKP2 gene page - eDGAR 的相關結果

Disease ID, Disease name, Source of annotation with PKP2, OMIM link, Number of associated genes, genes. 603829 · VENTRICULAR FIBRILLATION, PAROXYSMAL ... ... <看更多>

pkp2 omim 在 PKP2 single gene test - Blueprint Genetics 的相關結果

PKP2 single gene test. Analysis methods. PLUS. Availability. Results in 3-4 weeks. Test code. S01429. CPT code *. 81406, 81406, 81479. Phenotype. ... <看更多>

pkp2 omim 在 Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 disease 的相關結果

More information from OMIM: 604401 PS107970 ... 6, arrhythmogenic right ventricular dysplasia, familial, 3, 9.9, TMEM43 PKP2 JUP. ... <看更多>

pkp2 omim 在 Incidentally identified genetic variants in arrhythmogenic right ... 的相關結果

calizing to critical domains of PKP2 and DSG2 while WES variants did not. PKP2 ... most common genes associated with ARVC are PKP2 (OMIM. ... <看更多>

pkp2 omim 在 ARVC - Arrhythmogenic Right Ventricular Cardiomyopathy 的相關結果

v/omim/. ○ARVD5#604400 ○ARVD8#607450. ○ARVD9#609040 ○ARVD10#610193. ○ARVD11#610476 ... have mutations in the DSP, PKP2, DSG2,. DSC2 or TMEM43 gene. ... <看更多>

pkp2 omim 在 Exploring digenic inheritance in arrhythmogenic cardiomyopathy 的相關結果

In family members with PKP2 mutations we determined all genes that ... has not yet been identified: ARVD3 (OMIM %602,086) at 14q12–32.3 [7], ... ... <看更多>

pkp2 omim 在 Palmoplantar Keratoderma and Woolly Hair Revealing ... 的相關結果

AC due to autosomal dominant DSP mutations, with (OMIM: 615821) or without (OMIM 607450) hypo/oligodontia, may be also associated with PPK ... ... <看更多>

pkp2 omim 在 110 Markers in gene or region PKP2 with - GWAS Central 的相關結果

Identifier Accession Ref. sequence coords Variation Status Seque...
HGVM12219365 dbSNP:rs16920249 chr12:32968336..32968336 SNP active CTCC...
HGVM12219377 dbSNP:rs16920297 chr12:32990751..32990751 SNP active TACC...
HGVM12219378 dbSNP:rs16920304 chr12:32992139..32992139 SNP active TTCTT... ... <看更多>

pkp2 omim 在 PKP2 wt Allele - NCI Thesaurus - National Cancer Institute 的相關結果

PKP2 wt Allele (Code C173498) ... Definition: Human PKP2 wild-type allele is located in the vicinity of 12p11.21 and ... OMIM Number, 602861 (see OMIM info). ... <看更多>

pkp2 omim 在 anti-Plakophilin 2 antibody (AA 1-350) 的相關結果

Plakophilin 2 antibody (PKP2) AA 1-350 Primary Antibody ... ARVD 9 antibody,ARVD9 antibody,PKP 2 antibody,Plakophilin2 antibody; Gene ID: 5318, 67451; OMIM ... ... <看更多>

pkp2 omim 在 PKP2 - 转化医学网的相關結果

pkp2 omim 在 PKP2 recombinant protein :: Plakophilin 2 Recombinant Protein 的相關結果

Buy PKP2 recombinant protein, Plakophilin 2 Recombinant ... Recombinant Plakophilin 2 (PKP2) ... OMIM. 602861. Host. E.coli. Species Reactivity. ... <看更多>

pkp2 omim 在 Test Performed: Hereditary Disorder Panel 1 的相關結果

PKP2 cause arrhythmogenic right ventricular dysplasia 9 (ARVC9) [OMIM: 609040], an autosomal dominant disorder that is characterized by. ... <看更多>

pkp2 omim 在 The Molecular Biology of Cadherins - 第 367 頁 - Google 圖書結果的相關結果

hypotrichosis, and recurrent skin vesicles (HRSV; OMIM 613102).21How- ever, ... OMIM 601214; skin, hair, heart), plakophilin-2 (PKP2; OMIM 609040; heart), ... ... <看更多>

pkp2 omim 在 Incidentally identified genetic variants in arrhythmogenic right 的相關結果

most common genes associated with ARVC are PKP2 (OMIM. 602861), DSP (OMIM 125647), DSG2 (OMIM 125671), DSC2. (OMIM 125645), JUP (OMIM ... ... <看更多>

pkp2 omim 在 Unique genetic background and outcome of non‐Caucasian ... 的相關結果

Plakophilin 2 (PKP2,OMIM reference number*602861) mutations are significantly predominant in Caucasian (Groeneweg et al. 2015) and. ... <看更多>

pkp2 omim 在 PKP2 - Centrum voor Medische Genetica - UZ Brussel 的相關結果

Deellabo: PGD DNA. Gen (Gen Code):, PKP2. Aliases Gen: PKP2, ARVD9. Gen ID (NCBI):, 5318. OMIM Gen ID: 602861. Chromosomale locatie: 12p11. ... <看更多>

pkp2 omim 在 S-EPMC5723071 < Europe PubMed Central < BioStudies ... 的相關結果

Types, ensembl, omim, omim, omim, omim, omim, omim, omim, omim ... Cardiomyopathy carrying the heterozygous PKP2 mutation c.2569_3018del50. ... <看更多>

pkp2 omim 在 Whole Exome Sequencing in a Rare Disease 的相關結果

CFTR, Cystic Fibrosis Transmembrane Conductance Regulator; MEN1, Multiple Endocrine Neoplasia Type 1; OMIM, Online. Mendelian Inheritance in Man; PKP2, ... ... <看更多>

pkp2 omim 在 PKP2 gene homepage - BIPMed SNP Array - HG38 的相關結果

PKP2 homepage · View transcripts · View variants · View individuals · View diseases · View ... Gene symbol, PKP2 ... OMIM - Gene, 602861. ... <看更多>

pkp2 omim 在 Arrhythmogenic right ventricular dysplasia 1 (Concept Id - NCBI 的相關結果

... caused by mutation in the PKP2 gene (602861) on chromosome 12p11; ARVD10 (610193), ... PKP2, DSG2, DSC2, and JUP genes. http://www.omim.org/entry/107970. ... <看更多>

pkp2 omim 在 HCLSIG BioRDF Subgroup/Data/OMIM - W3C Wiki 的相關結果

<rdf:Description rdf:about="urn:lsid:uniprot.org:omim:107920"> <rdf:Type ... PKP1 ({601975}), PKP2 ({602861}), PKP4 ({604276}), and ARVCF ({602269}), ... ... <看更多>

pkp2 omim 在 Arrhythmogenic Cardiomyopathy Multi-Gene Panel, Blood 的相關結果

ARVC, Naxos disease. LMNA. Lamin A/C. AD, AR. DCM, EMD, LGMD, congenital muscular dystrophy, ARVC (see OMIM for full listing). PKP2. Plakophilin 2. ... <看更多>

pkp2 omim 在 arrhythmogenic right ventricular cardiomyopathy (ARVC) 的相關結果

#Indicates gene not yet annotated as ARVC related in the OMIM ... PKP2, however, are often nonsense- and frameshift mutations.4 Less. ... <看更多>

pkp2 omim 在 Plakophilin-2 - Wikiwand 的相關結果

Plakophilin-2 is a protein that in humans is encoded by the PKP2 gene.[5][6] Plakophilin 2 is expressed in skin and cardiac muscle, where it functions to ... ... <看更多>

pkp2 omim 在 ARMC8 - PKP2 Interaction Summary - BioGRID 的相關結果

Affinity Capture-MS. An interaction is inferred when a bait protein is affinity captured from cell extracts by either polyclonal antibody or epitope tag and ... ... <看更多>

pkp2 omim 在 Cardiovascular Genetics and Genomics: Principles and ... 的相關結果

Box 2.6c Diverse phenotypes associated with TTN mutations OMIM phenotype OMIM ... 609,040 PKP2 Plakophilin 2 Desmosomal protein subunit OMIM OMIM Sub-type ... ... <看更多>

pkp2 omim 在 Emery and Rimoin’s Principles and Practice of Medical ... 的相關結果

See Online Mendelian Inheritance in Man (OMIM) OmpC. ... See Parkes Weber syndrome (PKWS) Plakophilin-2 (PKP2), 99 Planar cell polarity proteins, ... ... <看更多>

pkp2 omim 在 Cardiomyopathies: Types and Treatments - 第 130 頁 - Google 圖書結果的相關結果

... genetics from OMIM®and Online Mendelian Inheritance in Man®. 3.1. ... [22] was the first to show that mutations in PKP2 are a major cause of ARVC/D. The ... ... <看更多>

pkp2 omim 在 Current Concepts in Arrhythmogenic Cardiomyopathy, Second ... 的相關結果

TABLE 6.1 Chromosomal Loci for ARVC NAME OMIM# CHROMOSOME GENE ARVD1 ... and DES ARVD8 607450 DSP 6p24.3 12p11.21 ARVD9 609040 PKP2 ARVD10 610193 DSG2 ... ... <看更多>

pkp2 omim 在 Channelopathies in Heart Disease - 第 341 頁 - Google 圖書結果的相關結果

... (CCD) Type (omim) Locus (HGNC) Gene Protein Transmission OMIM PFHB- 1A ... identified: plakophilin-2 (PKP2) desmoplakin (DSP), desmocollin-2 (DSC2), ... ... <看更多>

你可能也想看看

pkp2 gene mutation symptoms

arvc pubmed

genetic testing for arvc

arvc genereviews

PLAKOPHILIN 2; PKP2. HGNC Approved Gene Symbol: PKP2. Cytogenetic location: 12p11.21 Genomic coordinates (GRCh38): 12:32,790,755-32,896,777 (from NCBI).

#2. Entry - #609040 - ARRHYTHMOGENIC RIGHT ... - OMIM

... that this form of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is caused by heterozygous mutations in the PKP2 gene (602861), ...

#3. Entry - %602086 - ARRHYTHMOGENIC RIGHT ... - OMIM

12p11.21 · Arrhythmogenic right ventricular dysplasia 9, AD, 3, 609040 · PKP2 · 602861 · 14q12-q22 · Arrhythmogenic right ventricular dysplasia 3 ...

#4. Entry - %602087 - ARRHYTHMOGENIC RIGHT ... - OMIM

12p11.21 · Arrhythmogenic right ventricular dysplasia 9, AD, 3, 609040 · PKP2 · 602861 · 14q12-q22 · Arrhythmogenic right ventricular dysplasia 3 ...

#5. Entry - #610193 - ARRHYTHMOGENIC RIGHT ... - OMIM

12p11.21 · Arrhythmogenic right ventricular dysplasia 9, AD, 3, 609040 · PKP2 · 602861 ... and PKP2 (602861) genes, and identified 5 missense mutations, ...

#6. ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA ...

... caused by mutation in the PKP2 gene (602861) on chromosome 12p11; ... including discussion of the involvement of the DSP, PKP2, DSG2, DSC2, ...

#7. 5318 - Gene ResultPKP2 plakophilin 2 [ (human)] - NCBI

PKP2 plakophilin 2 [ (human)]. Gene ID: 5318, updated on 6-Nov-2022. Summary. This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene ...

#8. PKP2 - an overview | ScienceDirect Topics

Plakophilin2 is a desmosomal protein found in the intercalated discs of cardiac cells. The human gene (PKP2), which encodes plakophilin2, is mutated in patients ...

#9. PKP2 gene: MedlinePlus Genetics

The PKP2 gene provides instructions for making a protein called plakophilin 2. Learn about this gene and related health conditions.

#10. Plakophilin-2 - Wikipedia

Plakophilin-2 is a protein that in humans is encoded by the PKP2 gene. ... External IDs, OMIM: 602861 MGI: 1914701 HomoloGene: 3364 GeneCards: PKP2 ...

#11. PKP2 | Clinvar - Cardiomyopathy Database - InStem

Pathogenic, MedGen:C1836906 OMIM:609040, -1. c.2146-?_2489+?del, None, deletion. Arrhythmogenic right ventricular cardiomyopathy, type 9.

#12. Pkp2 Mouse Gene Details | plakophilin 2

Phenotype data for mouse gene Pkp2. Discover Pkp2's significant phenotypes, ... in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

#13. PKP2 - Genomics England PanelApp

PKP2. plakophilin 2. OMIM: 602861, Gene2Phenotype ... Red PKP2 in Dilated Cardiomyopathy and conduction defects. Level 3: Cardiomyopathy

#14. Human Gene PKP2 (ENST00000340811.9) from GENCODE ...

Description: Homo sapiens plakophilin 2 (PKP2), transcript variant 2a, mRNA. (from RefSeq NM_001005242) RefSeq Summary (NM_001005242): This gene encodes a ...

#15. Pkp2 (plakophilin 2) - Rat Genome Database

Orthologous to human PKP2 (plakophilin 2); PARTICIPATES IN arrhythmogenic right ventricular cardiomyopathy pathway; ... Imported Disease Annotations - OMIM.

#16. PKP2 - Curated Genes - ClinGen

PKP2 · Gene-Disease Validity · Clinical Actionability ...

#17. Incidentally identified genetic variants in arrhythmogenic right ...

The most common genes associated with ARVC are PKP2 (OMIM 602861), DSP (OMIM 125647), DSG2 (OMIM 125671), DSC2 (OMIM 125645), JUP (OMIM ...

#18. PKP2 | Gene - VarSome

PKP2 | Gene results | VarSome, the Human Genomics Community. ... OMIM. No data available. VarSome Premium. New. Gene basic info. Description. plakophilin 2.

#19. The PKP2 gene homepage - Global Variome shared LOVD

Gene symbol, PKP2 ... Version, PKP2:221101 ... OMIM - Diseases, ARVD9 (dysplasia, arrhythmogenic right ventricular, type 9). HGMD, PKP2.

#20. PKP2 - MARRVEL

OMIM Description of PKP2. PLAKOPHILIN 2; PKP2. Plakophilins are armadillo repeat-containing proteins that are localized in the desmosomal plaque and cell ...

#21. PKP2 Gene

phenotypes associated with PKP2 gene from the curated OMIM Gene-Disease Associations dataset. Pathway Commons Protein-Protein Interactions, interacting proteins ...

#22. PKP2 gene with submissions organized by classifications

PKP2 · HGNC:9024. familial isolated arrhythmogenic right ventricular dysplasia. MONDO:0016342. Submitted as: OMIM:609040. AD. 05/26/2021. Evaluated.

#23. Pkp2 MGI Mouse Gene Detail - MGI:1914701 - plakophilin 2

View mouse Pkp2 Chr16:16031209-16090576 with: phenotypes, sequences, polymorphisms, proteins, references, function, expression.

#24. 疾病分類中文名稱英文名稱疾病OMIM# 基因遺傳模式可執行 ...

OMIM #. 基因. 遺傳模式可執行UPGD l. 盛行率. 病症 ... PKP2. Arrhythmogenic right ventricular cardiomyopathy, type 8. 607450.

#25. Pathogenic variants in plakophilin-2 gene (PKP2) are ...

All probands were screened for genetic variants in PKP2, the most frequently affected gene in ARVC patients (https://www.omim.org/entry/602861).

#26. Human Plakophilin 2 (PKP2) ELISA Kit | Abbexa Ltd

Human Plakophilin 2 (PKP2) ELISA Kit is an ELISA Kit for the in vitro ... Graph showing standard OD data for Human Plakophilin 2 (PKP2) ... OMIM, 602861.

#27. Phenotypic Variability of a Pathogenic PKP2 Mutation in an ...

Mutations in the PKP2 gene, whose gene–phenotype relationships are available in Online Mendelian Inheritance in Man as OMIM* 602861, ...

#28. Exploring digenic inheritance in arrhythmogenic cardiomyopathy

members with PKP2 mutations we determined all genes that harbor variants in affected but not in healthy ... (OMIM %602,087) at 2q32.1–32.3 [8], and ARVD6.

#29. ODCs

1 OMIM reference - See 1 associated gene ... (UniProt - OMIM). INTERACTOME ASSOCIATIONS. (click on a score value to see the evidence). POLR3A, (0.79), PKP2 ...

#30. Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia ...

Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the PKP2 Gene · Summary and Pricing · Clinical Features and Genetics · Citations · Ordering/Specimens ...

#31. Anti-PKP2 Antibody (C17732) Rabbit Polyclonal

C17732 Anti-PKP2 Antibody detects endogenous levels of total PKP2 protein. Validated for WB and ELISA. Reactive for Human, Rat.

#32. ブルガダ症候群 - MGenReviews

Type Name Gene Symbol Type Name Gene Symbol single nucleotide variant NM_001005242.3(PKP2):c.1379‑1998C>T PKP2 single nucleotide variant NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) PKP2

#33. PKP2 - Gene sequencing

PKP2. Lab method. Sanger Gene Sequencing. Turnaround time. 2 months. Location. Location AMC ... Arrhythmogenic right ventricular dysplasia 9 (OMIM: 609040) ...

#34. spectrum of mutations and clinical impact in practice | EP ...

Direct sequencing of the five genes (JUP, DSP, PKP2, DSG2, ... PKP2 (OMIM 602861, MN_004572.3, transcript 881aa), DSG2 (OMIM 125671, ...

#35. Brugada syndrome: current concepts and genetic background

BrS15: Locus: 12p11; OMIM: 602861; Gene: PKP2; Protein: Desmosome protein ... Indeed, in vitro characterization of the PKP2 mutations detected in patients ...

#36. CORUM - Helmholtz Zentrum München

AnkG-PKP2-Cx43 complex ... Ank3-Pkp2-Gja1 complex ... Gene name synonyms, Organism, UniProt ID, Entrez-ID, OMIM-ID, Stoechiometrie ...

#37. Gene PKP2 - Arrhythmogenic right ventricular dysplasia 9

Gene PKP2 – Arrhythmogenic right ventricular dysplasia 9. OMIM 602861. Newsletter. Be the first to know all the latest news of InterGenetics in Greece and ...

#38. arrhythmogenic right ventricular dysplasia 9

Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the PKP2 gene. exactMatch. https://omim.org/ ...

#39. Human Phenotype Ontology - MSeqDR

... right ventricular cardiomyopathy, type 11, 610476, C1864850, OMIM, 1, 1113, 3036, 125645 ... Genes (9) :DES DSC2 DSG2 DSP JUP PKP2 RYR2 TGFB3 TMEM43

#40. Brugada-Syndrome-some-genetic-aspects.pdf - Cardiolatina

cardiac sodium channel, Nav1.5. BrS11. PKP2. Locus: 12p11; OMIM: 602861. Plakophilin-2 (PKP2). BrS15, SUNDS, arrhythmogenic cardiomyopathy (AC). ↓peak I.

#41. KEGG T01001: 5318

09160 Human Diseases 09166 Cardiovascular disease 05412 Arrhythmogenic right ventricular cardiomyopathy 5318 (PKP2). BRITE hierarchy ... OMIM: 602861 ...

#42. arrhythmogenic right ventricular dysplasia 9

Apply. Source. Clear Apply. References. Clear Apply. PKP2. Homo sapiens, is implicated in, arrhythmogenic right ventricular dysplasia 9. IAGP. OMIM via RGD.

#43. Anti-Plakophilin 2/PKP2 antibody (ab220840) - Abcam

Rabbit polyclonal Plakophilin 2/PKP2 antibody. Validated in IHC, ICC/IF and tested in Human. Immunogen corresponding to recombinant fragment.

#44. Disorder Details - RCPA

PKP2 (also called ). Long Name. plakophilin 2 (OMIM 602861). Laboratories. Associated Disorders. OMIM 609040 : Arrhythmogenic right ventricular dysplasia 9.

#45. PKP2 (plakophilin 2) | Gene Report - BioGPS

Symbol: PKP2. Description: plakophilin 2. Accessions: 5318 (NCBI Gene) ENSG00000057294 (Ensembl) Q99959 (UniProt) 602861 (OMIM) 3364 (HomoloGene).

#46. PKP2 gene page - eDGAR

Disease ID, Disease name, Source of annotation with PKP2, OMIM link, Number of associated genes, genes. 603829 · VENTRICULAR FIBRILLATION, PAROXYSMAL ...

#47. PKP2 single gene test - Blueprint Genetics

PKP2 single gene test. Analysis methods. PLUS. Availability. Results in 3-4 weeks. Test code. S01429. CPT code *. 81406, 81406, 81479. Phenotype.

#48. Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 disease

More information from OMIM: 604401 PS107970 ... 6, arrhythmogenic right ventricular dysplasia, familial, 3, 9.9, TMEM43 PKP2 JUP.

#49. Incidentally identified genetic variants in arrhythmogenic right ...

calizing to critical domains of PKP2 and DSG2 while WES variants did not. PKP2 ... most common genes associated with ARVC are PKP2 (OMIM.

#50. ARVC - Arrhythmogenic Right Ventricular Cardiomyopathy

v/omim/. ○ARVD5#604400 ○ARVD8#607450. ○ARVD9#609040 ○ARVD10#610193. ○ARVD11#610476 ... have mutations in the DSP, PKP2, DSG2,. DSC2 or TMEM43 gene.

#51. Exploring digenic inheritance in arrhythmogenic cardiomyopathy

In family members with PKP2 mutations we determined all genes that ... has not yet been identified: ARVD3 (OMIM %602,086) at 14q12–32.3 [7], ...

#52. Palmoplantar Keratoderma and Woolly Hair Revealing ...

AC due to autosomal dominant DSP mutations, with (OMIM: 615821) or without (OMIM 607450) hypo/oligodontia, may be also associated with PPK ...

#53. 110 Markers in gene or region PKP2 with - GWAS Central

Identifier Accession Ref. sequence coords Variation Status Seque... HGVM12219365 dbSNP:rs16920249 chr12:32968336..32968336 SNP active CTCC... HGVM12219377 dbSNP:rs16920297 chr12:32990751..32990751 SNP active TACC... HGVM12219378 dbSNP:rs16920304 chr12:32992139..32992139 SNP active TTCTT...

#54. PKP2 wt Allele - NCI Thesaurus - National Cancer Institute

PKP2 wt Allele (Code C173498) ... Definition: Human PKP2 wild-type allele is located in the vicinity of 12p11.21 and ... OMIM Number, 602861 (see OMIM info).

#55. anti-Plakophilin 2 antibody (AA 1-350)

Plakophilin 2 antibody (PKP2) AA 1-350 Primary Antibody ... ARVD 9 antibody,ARVD9 antibody,PKP 2 antibody,Plakophilin2 antibody; Gene ID: 5318, 67451; OMIM ...

#56. PKP2 - 转化医学网

#57. PKP2 recombinant protein :: Plakophilin 2 Recombinant Protein

Buy PKP2 recombinant protein, Plakophilin 2 Recombinant ... Recombinant Plakophilin 2 (PKP2) ... OMIM. 602861. Host. E.coli. Species Reactivity.

#58. Test Performed: Hereditary Disorder Panel 1

PKP2 cause arrhythmogenic right ventricular dysplasia 9 (ARVC9) [OMIM: 609040], an autosomal dominant disorder that is characterized by.

#59. The Molecular Biology of Cadherins - 第 367 頁 - Google 圖書結果

hypotrichosis, and recurrent skin vesicles (HRSV; OMIM 613102).21How- ever, ... OMIM 601214; skin, hair, heart), plakophilin-2 (PKP2; OMIM 609040; heart), ...

#60. Incidentally identified genetic variants in arrhythmogenic right

most common genes associated with ARVC are PKP2 (OMIM. 602861), DSP (OMIM 125647), DSG2 (OMIM 125671), DSC2. (OMIM 125645), JUP (OMIM ...

#61. Unique genetic background and outcome of non‐Caucasian ...

Plakophilin 2 (PKP2,OMIM reference number*602861) mutations are significantly predominant in Caucasian (Groeneweg et al. 2015) and.

#62. PKP2 - Centrum voor Medische Genetica - UZ Brussel

Deellabo: PGD DNA. Gen (Gen Code):, PKP2. Aliases Gen: PKP2, ARVD9. Gen ID (NCBI):, 5318. OMIM Gen ID: 602861. Chromosomale locatie: 12p11.

#63. S-EPMC5723071 < Europe PubMed Central < BioStudies ...

Types, ensembl, omim, omim, omim, omim, omim, omim, omim, omim ... Cardiomyopathy carrying the heterozygous PKP2 mutation c.2569_3018del50.

#64. Whole Exome Sequencing in a Rare Disease

CFTR, Cystic Fibrosis Transmembrane Conductance Regulator; MEN1, Multiple Endocrine Neoplasia Type 1; OMIM, Online. Mendelian Inheritance in Man; PKP2, ...

#65. PKP2 gene homepage - BIPMed SNP Array - HG38

PKP2 homepage · View transcripts · View variants · View individuals · View diseases · View ... Gene symbol, PKP2 ... OMIM - Gene, 602861.

#66. Arrhythmogenic right ventricular dysplasia 1 (Concept Id - NCBI

... caused by mutation in the PKP2 gene (602861) on chromosome 12p11; ARVD10 (610193), ... PKP2, DSG2, DSC2, and JUP genes. http://www.omim.org/entry/107970.

#67. HCLSIG BioRDF Subgroup/Data/OMIM - W3C Wiki

<rdf:Description rdf:about="urn:lsid:uniprot.org:omim:107920"> <rdf:Type ... PKP1 ({601975}), PKP2 ({602861}), PKP4 ({604276}), and ARVCF ({602269}), ...

#68. Arrhythmogenic Cardiomyopathy Multi-Gene Panel, Blood

ARVC, Naxos disease. LMNA. Lamin A/C. AD, AR. DCM, EMD, LGMD, congenital muscular dystrophy, ARVC (see OMIM for full listing). PKP2. Plakophilin 2.

#69. arrhythmogenic right ventricular cardiomyopathy (ARVC)

#Indicates gene not yet annotated as ARVC related in the OMIM ... PKP2, however, are often nonsense- and frameshift mutations.4 Less.

#70. Plakophilin-2 - Wikiwand

Plakophilin-2 is a protein that in humans is encoded by the PKP2 gene.[5][6] Plakophilin 2 is expressed in skin and cardiac muscle, where it functions to ...

#71. ARMC8 - PKP2 Interaction Summary - BioGRID

Affinity Capture-MS. An interaction is inferred when a bait protein is affinity captured from cell extracts by either polyclonal antibody or epitope tag and ...

#72. Cardiovascular Genetics and Genomics: Principles and ...

Box 2.6c Diverse phenotypes associated with TTN mutations OMIM phenotype OMIM ... 609,040 PKP2 Plakophilin 2 Desmosomal protein subunit OMIM OMIM Sub-type ...

#73. Emery and Rimoin’s Principles and Practice of Medical ...

See Online Mendelian Inheritance in Man (OMIM) OmpC. ... See Parkes Weber syndrome (PKWS) Plakophilin-2 (PKP2), 99 Planar cell polarity proteins, ...

#74. Cardiomyopathies: Types and Treatments - 第 130 頁 - Google 圖書結果

... genetics from OMIM®and Online Mendelian Inheritance in Man®. 3.1. ... [22] was the first to show that mutations in PKP2 are a major cause of ARVC/D. The ...

#75. Current Concepts in Arrhythmogenic Cardiomyopathy, Second ...

TABLE 6.1 Chromosomal Loci for ARVC NAME OMIM# CHROMOSOME GENE ARVD1 ... and DES ARVD8 607450 DSP 6p24.3 12p11.21 ARVD9 609040 PKP2 ARVD10 610193 DSG2 ...

#76. Channelopathies in Heart Disease - 第 341 頁 - Google 圖書結果

... (CCD) Type (omim) Locus (HGNC) Gene Protein Transmission OMIM PFHB- 1A ... identified: plakophilin-2 (PKP2) desmoplakin (DSP), desmocollin-2 (DSC2), ...