WBP4

Chr 13q14.11

WW domain binding protein 4

Aliases:: FBP21, MGC117310
MANE:: ENST00000379487.5

OMIM: 604981 ↗NCBI: 11193 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

WBP4 · O75554

v62025-08-01

Predicted Aligned Error matrix for WBP4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

65.9/ 100

Low

376 residues

Confidence breakdown

Very high(≥ 90)23%
Confident(70–90)22%
Low(50–70)21%
Very low(< 50)34%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities
0.67
neurodevelopmental disorder
0.39
neurodegenerative disease
0.34
Crohn disease
0.26
type 2 diabetes mellitus
0.06
rubella
0.05
injury
0.04
Hashimoto thyroiditis
0.02
inflammatory bowel disease
0.01
myelodysplastic syndrome
0.00

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

Protein function (UniProt)

WW domain-binding protein 4

Involved in pre-mRNA splicing as a component of the spliceosome (PubMed:19592703, PubMed:28781166, PubMed:9724750). May play a role in cross-intron bridging of U1 and U2 snRNPs in the mammalian A complex (PubMed:9724750)