CYFIP2
Cytoplasmic FMR1 Interacting Protein 2
Gene Information Card
| Symbol | CYFIP2 |
|---|---|
| Full Name | cytoplasmic FMR1 interacting protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q33.3 |
| NCBI Gene ID | 26999 ncbi.nlm.nih.gov/gene/26999 |
| Ensembl ID | ENSG00000113595 |
| UniProt ID | Q96F07 |
| OMIM ID | 606362 |
| HGNC ID | 13760 |
| Aliases | SRA1, PIR121, p53-inducible protein, FMRP interacting protein 2 |
Description
CYFIP2 encodes a protein that is a component of the WAVE regulatory complex (WRC), which regulates actin polymerization through the Arp2/3 complex. It interacts with FMRP (fragile X mental retardation protein) and p53, and plays roles in neuronal development, synaptic plasticity, and cell migration. Mutations in CYFIP2 are associated with neurodevelopmental disorders including intellectual disability, epilepsy, and autism spectrum disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability, autosomal dominant 65 | Missense mutations (e.g., p.Arg87Cys) impair WRC function and actin dynamics | ClinVar, OMIM #618281 |
| Epileptic encephalopathy, early infantile | De novo missense variants disrupt neuronal actin regulation | ClinVar, PubMed: 29358615 |
| Autism spectrum disorder | Rare variants in CYFIP2 linked to altered synaptic signaling | ClinVar, PubMed: 25666757 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | High |
| Testis | 8.7 | Medium |
| Lung | 5.3 | Medium |
| Heart | 3.1 | Low |
| Liver | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 12.4 | Neuronal model |
| HEK293 (embryonic kidney) | 9.8 | Common expression system |
| HeLa (cervical carcinoma) | 6.2 | Epithelial |
| K562 (leukemia) | 4.1 | Myeloid |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.259C>T (p.Arg87Cys) | Missense | Rare (de novo) | Gain-of-function? Altered WRC activity |
| c.260G>A (p.Arg87His) | Missense | Rare (de novo) | Likely gain-of-function |
| c.196A>G (p.Lys66Glu) | Missense | Rare (de novo) | Unknown |
| c.1018C>T (p.Arg340Trp) | Missense | Rare (de novo) | Unknown |
Mutation functional classification
Loss of Function (LOF)
Not well established; most pathogenic variants are missense with possible gain-of-function or dominant-negative effects.
Gain of Function (GOF)
p.Arg87Cys and p.Arg87His are proposed to enhance WRC activity, leading to increased actin polymerization.
Dominant Negative (DN)
Some variants may disrupt WRC assembly and inhibit normal complex function.
View complete mutation data：
Gene Ontology (GO)
| • actin cytoskeleton organization | • regulation of Arp2/3 complex-mediated actin nucleation |
| • synaptic signaling | • dendrite morphogenesis |
| • protein binding | • WAVE complex |
Pathways
• WAVE regulatory complex pathway
• Regulation of actin cytoskeleton (KEGG: hsa04810)
• Fc gamma R-mediated phagocytosis (KEGG: hsa04666)
Protein Summary
CYFIP2 is a 1253-amino acid protein (UniProt Q96F07) that forms part of the WAVE regulatory complex. It binds FMRP and p53, linking actin dynamics to translational regulation and cell cycle control. The protein is highly expressed in brain and testis, and its missense mutations are associated with neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYFIP2 Knockout HEK293 Cell Line | EDJ-KQ8641 | Human | 26999 | Details Get a Quote |
| CYFIP2 Knockout A-549 Cell Line | EDJ-KQ34809 | Human | 26999 | Details Get a Quote |
| CYFIP2 Knockout HCT 116 Cell Line | EDJ-KQ34810 | Human | 26999 | Details Get a Quote |
| CYFIP2 Knockout HeLa Cell Line | EDJ-KQ34811 | Human | 26999 | Details Get a Quote |
