PKP2 wt Allele

Preferred Label : PKP2 wt Allele;

NCIt synonyms : ARVD9; Plakophilin 2 wt Allele;

NCIt definition : Human PKP2 wild-type allele is located in the vicinity of 12p11.21 and is approximately 106 kb in length. This allele, which encodes plakophilin-2 protein, plays a role in the structure of desmosomes. Mutation of the gene is associated with arrhythmogenic right ventricular dysplasia 9.;

NCI Metathesaurus CUI : CL1407471;

GenBank Accession Number : X97675;

Details

Origin ID

C173498;

UMLS CUI

C5401217;

Automatic exact mappings (from CISMeF team)
- arrhythmogenic right ventricular dysplasia 9 [DO Concept]
OMIM relation
- Plakophilin 2 [OMIM gene]
See also inter- (CISMeF)
- Arrhythmogenic right ventricular dysplasia, familial, 9 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Cell Adhesion Process [NCIt concept]
- Cell-Cell Adhesion Process [NCIt concept]
- Keratinization [NCIt concept]
- Ligand Binding [NCIt concept]
- Protein-Protein Interaction [NCIt concept]

Keyword's position in hierarchy(ies) :

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