CYFIP2

Chr 5q33.3

cytoplasmic FMR1 interacting protein 2

Aliases:: PIR121
MANE:: ENST00000620254.5

OMIM: 606323 ↗NCBI: 26999 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CYFIP2 · Q96F07

v62025-08-01

Predicted Aligned Error matrix for CYFIP2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

86.8/ 100

Confident

1,278 residues

Confidence breakdown

Very high(≥ 90)62%
Confident(70–90)28%
Low(50–70)5%
Very low(< 50)5%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

developmental and epileptic encephalopathy, 65
0.77
early-infantile DEE
0.46
hereditary disease
0.41
complex neurodevelopmental disorder
0.40
asthma
0.38
Seizure
0.37
genetic developmental and epileptic encephalopathy
0.37
undetermined early-onset epileptic encephalopathy
0.37
smoking initiation
0.35
Intellectual disability
0.34

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Cytoplasmic FMR1-interacting protein 2

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)