AlphaFold predicted structure
CELF2 · O95319
Mean pLDDT
64.6/ 100
Low
508 residues
Confidence breakdown
- Very high(≥ 90)17%
- Confident(70–90)35%
- Low(50–70)8%
- Very low(< 50)40%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
CELF2
Chr 10p14CUGBP Elav-like family member 2
- Aliases:
- Etr-3, NAPOR-2, BRUNOL3
- MANE:
- ENST00000633077.2
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disease associations (Open Targets)
developmental and epileptic encephalopathy 97
0.72neurodevelopmental disorder
0.44smoking initiation
0.41lymphatic system cancer
0.39non-Hodgkin lymphoma
0.39open-angle glaucoma
0.39major depressive disorder
0.38undetermined early-onset epileptic encephalopathy
0.37retinal disorder
0.37Respiratory insufficiency
0.33
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
CUGBP Elav-like family member 2
RNA-binding protein implicated in the regulation of several post-transcriptional events (PubMed:11577082, PubMed:11158314, PubMed:11931771, PubMed:12649496, PubMed:14973222, PubMed:15657417). Involved in pre-mRNA alternative splicing, mRNA translation and stability (PubMed:11158314, PubMed:11931771, PubMed:12649496, PubMed:14973222, PubMed:15657417, PubMed:15894795). Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing (PubMed:11158314, PubMed:11931771, PubMed:12649496). Specifically activates exon 5 inclusion of TNNT2 in embryonic, but not adult, skeletal muscle (PubMed:11158314, PubMed:11931771). Activates TNNT2 exon 5 inclusion by antagonizing the repressive effect of PTB (PubMed:11931771). Acts both as an activator and as a repressor of a pair of coregulated exons: promotes inclusion of the smooth muscle (SM) exon but exclusion of the non-muscle (NM) exon in actinin pre-mRNAs (PubMed:12649496). Promotes inclusion of exon 21 and exclusion of exon 5 of the NMDA receptor R1 pre-mRNA (By similarity). Involved in the apoB RNA editing activity (PubMed:11577082). Increases COX2 mRNA stability and inhibits COX2 mRNA translation in epithelial cells after radiation injury (By similarity). Binds to the muscle-specific splicing enhancer (MSE) intronic sites flanking the TNNT2 alternative exon 5 (PubMed:11158314). Binds preferentially to UG-rich sequences, in particular UG repeat and UGUU motifs (PubMed:11931771, PubMed:15657417). Binds to apoB mRNA, specifically to AU-rich sequences located immediately upstream of the edited cytidine (PubMed:11577082). Binds AU-rich sequences in the 3'-UTR of COX2 mRNA (By similarity). Binds to an intronic RNA element responsible for the silencing of exon 21 splicing (By similarity). Binds to (CUG)n repeats (PubMed:11158314). May be a specific regulator of miRNA biogenesis (PubMed:28431233). Binds to primary microRNA pri-MIR140 and, with CELF1, negatively regulates the processing to mature miRNA (PubMed:28431233)
Diseases associated with CELF2
Curated MONDO disease pages that list CELF2 among their top associated genes.