CYFIP2 wt Allele

Preferred Label : CYFIP2 wt Allele;

NCIt synonyms : PIR121; Cytoplasmic FMR1 Interacting Protein 2 wt Allele; KIAA1168; EIEE65; DEE65;

NCIt definition : Human CYFIP2 wild-type allele is located in the vicinity of 5q33.3 and is approximately 130 kb in length. This allele, which encodes cytoplasmic FMR1-interacting protein 2, plays a role in the regulation of apoptosis, cell-cell adhesion, neurotrophin signaling and neuronal morphogenesis. Mutations in the gene are associated with developmental and epileptic encephalopathy 65.;

GenBank Accession Number : AF160973;

Détails

Origin ID

C215839;

OMIM relation
- Cytoplasmic fmrp-interacting protein 2 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 5q33.3 [NCIt concept]
gene_is_element_in_pathway
- Actin Cytoskeleton Regulation Pathway [NCIt concept]
- Adherens Junction Formation Pathway [NCIt concept]
- Adherens Junction Stabilization Pathway [NCIt concept]
- Epidermal Growth Factor Receptor Downstream Signaling Pathway [NCIt concept]
- PDGFR-beta Signaling Pathway [NCIt concept]
- Pathogenic Escherichia coli Infection Pathway [NCIt concept]
- Salmonella Pathway [NCIt concept]
gene_plays_role_in_process
- Apoptosis [NCIt concept]
- Caspase Activation [NCIt concept]
- Cell-Cell Adhesion Process [NCIt concept]
- Signal Transduction [NCIt concept]

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