CELF2: A Key RNA-Binding Protein in Development and Disease
Comprehensive genomic and functional overview of CELF2, a member of the CELF/BRUNOL family involved in alternative splicing and mRNA regulation.
Gene Information Card
| Symbol | CELF2 |
|---|---|
| Full Name | CUGBP Elav-like family member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 10p14 |
| NCBI Gene ID | 10659 ncbi.nlm.nih.gov/gene/10659 |
| Ensembl ID | ENSG00000148730 |
| UniProt ID | O95319 |
| OMIM ID | 602538 |
| HGNC ID | 2550 |
| Aliases | BRUNOL3, CELF-2, ETR-3, NAPOR, CUGBP2 |
Description
CELF2 (CUGBP Elav-like family member 2) encodes an RNA-binding protein that regulates alternative splicing, mRNA stability, and translation. It is a member of the CELF/BRUNOL family and plays critical roles in development, particularly in the nervous system and heart. CELF2 is involved in myotonic dystrophy pathogenesis and has been implicated in various cancers and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Myotonic dystrophy type 1 (DM1) | CELF2 is sequestered by expanded CUG repeats in DMPK mRNA, leading to splicing dysregulation. | OMIM #602538; PMID: 11528384 |
| Autism spectrum disorder (ASD) | CELF2 variants alter splicing of neuronal transcripts, affecting synaptic function. | ClinVar; PMID: 27479909 |
| Breast cancer | CELF2 downregulation promotes epithelial-mesenchymal transition and metastasis. | COSMIC; PMID: 25691456 |
| Colorectal cancer | CELF2 loss leads to aberrant splicing of tumor suppressor genes. | COSMIC; PMID: 23934149 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Heart | 12.8 | Medium |
| Skeletal muscle | 9.5 | Low |
| Lung | 6.3 | Low |
| Liver | 3.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 18.4 | High expression; used in neuronal studies |
| HeLa (cervical carcinoma) | 12.1 | Moderate expression |
| MCF7 (breast cancer) | 8.7 | Low expression; loss associated with metastasis |
| HCT116 (colorectal carcinoma) | 7.2 | Low expression; splicing dysregulation |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1246C>T (p.Arg416Trp) | Missense | <0.01% | Altered RNA-binding affinity; associated with ASD |
| c.872_874del (p.Glu291del) | In-frame deletion | <0.01% | Loss of splicing regulation; reported in DM1 |
| c.1450G>A (p.Gly484Ser) | Missense | <0.01% | Reduced nuclear localization; linked to neurodevelopmental delay |
Mutation functional classification
Loss of Function (LOF)
CELF2 loss-of-function mutations (e.g., frameshift, nonsense) reduce RNA-binding and splicing activity, contributing to cancer progression and neurodevelopmental disorders.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported for CELF2.
Dominant Negative (DN)
Some missense variants (e.g., p.Arg416Trp) may act in a dominant-negative manner by interfering with wild-type CELF2 function.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • mRNA binding (GO:0003729) |
| • via spliceosome (GO:0000381) | • mRNA 3'-UTR binding (GO:0003730) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
Pathways
• Alternative splicing regulation (Reactome: R-HSA-72172)
• mRNA surveillance pathway (KEGG: hsa03015)
• Myotonic dystrophy pathway (KEGG: hsa05030)
Protein Summary
CELF2 is a 574-amino acid RNA-binding protein containing three RRM (RNA recognition motif) domains. It shuttles between nucleus and cytoplasm, regulating alternative splicing in the nucleus and mRNA stability/translation in the cytoplasm. CELF2 is highly expressed in brain and heart, and its dysregulation is linked to myotonic dystrophy, autism, and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CELF2 Knockout HEK293 Cell Line | EDJ-KQ7121 | Human | 10659 | Details Get a Quote |
| CELF2 Knockout HeLa Cell Line | EDJ-KQ30618 | Human | 10659 | Details Get a Quote |
| CELF2 Knockout A-549 Cell Line | EDJ-KQ63939 | Human | 10659 | Details Get a Quote |
| CELF2 Knockout HCT 116 Cell Line | EDJ-KQ72396 | Human | 10659 | Details Get a Quote |
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