ANK2 wt Allele

Preferred Label : ANK2 wt Allele;

NCIt synonyms : Ankyrin, Brain Gene; brank-2; Long (Electrocardiographic) QT Syndrome 4 Gene; Ankyrin, Nonerythroid Gene; Ankyrin 2, Neuronal wt Allele; Ankyrin-2, Nonerythrocytic Gene; ANK-2; LQT4; Ankyrin, Neuronal Gene;

NCIt definition : Human ANK2 wild-type allele is located within 4q25-q27 and is approximately 566 kb in length. This allele, which encodes ankyrin-2 protein, is involved in both neuromuscular junction formation and cytoskeletal remodeling. Mutation of the gene is associated with long QT syndrome 4 and ankyrin-B-related cardiac arrhythmia.;

GenBank Accession Number : M37123;

Details

Origin ID

C114996;

UMLS CUI

C3889159;

Automatic exact mappings (from CISMeF team)
- Ankyrin 2 [OMIM gene]
- Cardiac arrhythmia, ankyrin-b-related [OMIM Phenotype]
- ankyrin 2 [ORDO Gene]
- long QT syndrome 4 [DO Concept]
OMIM relation
- Ankyrin 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 4q25-q27 [NCIt concept]
gene_plays_role_in_process
- Calcium Channel Binding [NCIt concept]
- Cardiac Muscle Contraction [NCIt concept]
- Cell Movement Process [NCIt concept]
- Cytoskeletal Modeling [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Regulation of Cell Shape [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]

Keyword's position in hierarchy(ies) :

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