RBFOX2

Chr 22q12.3

RNA binding fox-1 homolog 2

Aliases:: HNRBP2, FOX-2, HRNBP2
MANE:: ENST00000695854.1

OMIM: 612149 ↗NCBI: 23543 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

RBFOX2 · O43251

v62025-08-01

Predicted Aligned Error matrix for RBFOX2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

54.9/ 100

Low

390 residues

Confidence breakdown

Very high(≥ 90)20%
Confident(70–90)2%
Low(50–70)15%
Very low(< 50)63%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Paediatric disorders - additional genes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

congenital heart disease
0.52
hereditary disease
0.47
hypoplastic left heart syndrome
0.44
Abnormality of the skeletal system
0.36
neurodegenerative disease
0.36
RBFOX2-related congenital heart disorder
0.33
Atrophy/Degeneration affecting the central nervous system
0.26
placenta praevia
0.24
rheumatic heart disease
0.24
keloid
0.24

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

Protein function (UniProt)

RNA binding protein fox-1 homolog 2

RNA-binding protein that regulates alternative splicing events by binding to 5'-UGCAUGU-3' elements. Prevents binding of U2AF2 to the 3'-splice site. Regulates alternative splicing of tissue-specific exons and of differentially spliced exons during erythropoiesis (By similarity). RNA-binding protein that seems to act as a coregulatory factor of ER-alpha. Together with RNA binding proteins RBPMS and MBNL1/2, activates vascular smooth muscle cells alternative splicing events (PubMed:37548402)