CELF4

Chr 18q12.2

CUGBP Elav-like family member 4

MANE:: ENST00000420428.7

OMIM: 612679 ↗NCBI: 56853 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

CELF4 · Q9BZC1

v62025-08-01

Predicted Aligned Error matrix for CELF4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

61.5/ 100

Low

486 residues

Confidence breakdown

Very high(≥ 90)22%
Confident(70–90)21%
Low(50–70)13%
Very low(< 50)45%

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, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

neurodegenerative disease
0.53
major depressive disorder
0.52
anxiety disorder
0.48
Abnormality of the skeletal system
0.46
substance-related disorder
0.45
alcohol drinking
0.43
Chest pain
0.41
headache disorder
0.41
schizophrenia
0.41
irritable bowel syndrome
0.40

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

Protein function (UniProt)

CUGBP Elav-like family member 4

RNA-binding protein implicated in the regulation of pre-mRNA alternative splicing. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Promotes exclusion of both the smooth muscle (SM) and non-muscle (NM) exons in actinin pre-mRNAs. Activates the splicing of MAPT/Tau exon 10. Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA