CYFIP2

CYFIP2 (Cytoplasmic FMR1 Interacting Protein 2) is a Protein Coding gene. Diseases associated with CYFIP2 include Fragile X Syndrome and Amyotrophic Lateral Sclerosis 1. Among its related pathways are Innate Immune System and RET signaling. Gene Ontology (GO) annotations related to this gene include chemokine activity. An important paralog of this gene is CYFIP1.

Full Name

cytoplasmic FMR1 interacting protein 2

Function

Involved in T-cell adhesion and p53/TP53-dependent induction of apoptosis. Does not bind RNA. As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes (By similarity).

Biological Process

Activation of cysteine-type endopeptidase activity Source: BHF-UCL
Apoptotic process Source: UniProtKB
Cell-cell adhesion Source: UniProtKB
Cell morphogenesis Source: GO_Central
Fc-gamma receptor signaling pathway involved in phagocytosis Source: Reactome
Positive regulation of proteolysis Source: BHF-UCL
Regulation of actin filament polymerization Source: InterPro
Vascular endothelial growth factor receptor signaling pathway Source: Reactome

Cellular Location

Cytoplasm; Nucleus; Perinuclear region; Synaptosome. Highly expressed in the perinuclear regionand enriched in synaptosomes (By similarity). Treatment with leptomycin-B triggers translocation to the nucleus (PubMed:17245118).

Involvement in disease

Developmental and epileptic encephalopathy 65 (DEE65):
A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE65 is an autosomal dominant form characterized by onset of intractable seizures usually in the first 6 months of life and severe to profound psychomotor developmental delay.