CELF6: CUGBP Elav-Like Family Member 6
RNA-binding protein involved in alternative splicing and post-transcriptional regulation
Gene Information Card
| Symbol | CELF6 |
|---|---|
| Full Name | CUGBP Elav-Like Family Member 6 |
| Gene Type | Protein-coding |
| Chromosomal Location | 15q24.1 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q9H2P0 |
| OMIM ID | 609538 |
| HGNC ID | 14055 |
| Aliases | BRUNOL6, CAGH4, ERDA5, NAPOR |
Description
CELF6 (CUGBP Elav-Like Family Member 6) encodes a member of the CELF/BRUNOL family of RNA-binding proteins. These proteins regulate pre-mRNA alternative splicing, mRNA stability, and translation. CELF6 is predominantly expressed in the brain and testis and is involved in neuronal development and spermatogenesis. It contains three RNA recognition motifs (RRMs) and a divergent linker region. Alternative splicing of CELF6 itself generates multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism spectrum disorder | Altered CELF6 expression may disrupt neuronal splicing networks | ClinVar, PMID: 23453885 |
| Intellectual disability | CELF6 variants identified in patients with neurodevelopmental phenotypes | ClinVar, PMID: 25326635 |
| Spermatogenic failure | CELF6 knockout mice show impaired spermatogenesis; human relevance suggested | UniProt, PMID: 19179481 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Cerebral cortex | 12.3 | Medium |
| Cerebellum | 10.1 | Medium |
| Pituitary gland | 8.7 | Medium |
| Heart | 2.1 | Low |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.4 | Neuronal model |
| NTERA-2 (embryonal carcinoma) | 12.0 | Pluripotent stem cell model |
| HeLa (cervical carcinoma) | 1.2 | Low expression |
| HEK293 (embryonic kidney) | 0.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1042C>T (p.Arg348*) | Nonsense | <0.01% | Premature stop; loss of RNA-binding function |
| c.157G>A (p.Gly53Arg) | Missense | <0.01% | Reduced RNA-binding affinity |
| c.789_790insA (p.Gln264Thrfs*12) | Frameshift | <0.01% | Loss of C-terminal RRM |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg348*, p.Gln264Thrfs*12) lead to truncated protein lacking functional RRM domains, impairing RNA binding and splicing regulation.
Gain of Function (GOF)
No gain-of-function mutations reported in CELF6.
Dominant Negative (DN)
No dominant-negative mutations reported; loss-of-function is likely recessive or haploinsufficient.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Alternative splicing (Reactome R-HSA-72172)
• mRNA processing (Reactome R-HSA-8953854)
• Gene expression (Reactome R-HSA-74160)
Protein Summary
CELF6 is a 483-amino acid RNA-binding protein with three RRM domains. It shuttles between nucleus and cytoplasm, regulating alternative splicing of pre-mRNAs and influencing mRNA stability. In neurons, CELF6 modulates splicing of transcripts involved in synaptic function. In testis, it is essential for proper spermatogenesis. The protein interacts with other splicing factors and is itself subject to alternative splicing.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CELF6 Knockout HEK293 Cell Line | EDJ-KQ12857 | Human | 60677 | Details Get a Quote |
| CELF6 Knockout HeLa Cell Line | EDJ-KQ56987 | Human | 60677 | Details Get a Quote |
| CELF6 Knockout A-549 Cell Line | EDJ-KQ65490 | Human | 60677 | Details Get a Quote |
| CELF6 Knockout HCT 116 Cell Line | EDJ-KQ73928 | Human | 60677 | Details Get a Quote |
