JUP wt Allele - CISMeF

Preferred Label : JUP wt Allele;

NCIt synonyms : DPIII; DP3; PDGB; PKGB; Junction Plakoglobin wt Allele; ARVD12; Catenin (Cadherin-Associated Protein), Gamma 80kDa Gene; Catenin, Gamma Gene; CTNNG;

NCIt definition : Human JUP wild-type allele is located within 17q21 and is approximately 32 kb in length. This allele, which encodes junction plakoglobin protein, plays a role in the regulation of cell-cell junctions complexes involving cadherins and desmosomal cadherins.;

GenBank Accession Number : NM_021991;

Details

Origin ID

C51178;

UMLS CUI

C1704718;

OMIM relation
- Junction plakoglobin [OMIM gene]
See also inter- (CISMeF)
- Arrhythmogenic right ventricular dysplasia, familial, 12 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 17: 37181645-37164390 [NCIt concept]
gene_in_chromosomal_location
- 17q21 [NCIt concept]
gene_is_element_in_pathway
- Acute Myeloid Leukemia Pathway [NCIt concept]
- Adherens Junction Formation Pathway [NCIt concept]
- Arrhythmogenic Right Ventricular Cardiomyopathy Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Adhesion Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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