RBFOX3
RNA Binding Fox-1 Homolog 3
Gene Information Card
| Symbol | RBFOX3 |
|---|---|
| Full Name | RNA Binding Fox-1 Homolog 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 146713 ncbi.nlm.nih.gov/gene/146713 |
| Ensembl ID | ENSG00000167281 |
| UniProt ID | A6NFN3 |
| OMIM ID | 609337 |
| HGNC ID | 24600 |
| Aliases | FOX-3, HRNBP3, NeuN |
Description
RBFOX3 (RNA Binding Fox-1 Homolog 3) encodes a neuron-specific RNA-binding protein that regulates alternative splicing of pre-mRNAs in the nervous system. It is widely used as a neuronal marker (NeuN) and is essential for neuronal differentiation and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorders | Altered splicing of neuronal transcripts due to RBFOX3 loss-of-function | ClinVar; PMID: 23934199 |
| Autism spectrum disorder | Disruption of RBFOX3-dependent splicing networks | OMIM; PMID: 22751043 |
| Intellectual disability | RBFOX3 mutations impair neuronal splicing and development | ClinVar; PMID: 25363760 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 42.3 | High |
| Cerebral cortex | 38.1 | High |
| Cerebellum | 35.7 | High |
| Spinal cord | 20.5 | Medium |
| Testis | 1.2 | Low |
| Heart | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.8 | Neuronal lineage |
| SK-N-SH (neuroblastoma) | 12.4 | Neuronal lineage |
| HEK293 (embryonic kidney) | 0.3 | Non-neuronal control |
| HeLa (cervical carcinoma) | 0.1 | Non-neuronal control |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.544C>T (p.Arg182*) | Nonsense | <0.01% | Loss of function; associated with intellectual disability |
| c.748G>A (p.Gly250Arg) | Missense | <0.01% | Impaired RNA binding; linked to autism |
| c.1021_1022del (p.Leu341fs) | Frameshift | <0.01% | Truncated protein; loss of splicing activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to premature stop codons, reducing or abolishing RBFOX3 protein expression and splicing regulation.
Gain of Function (GOF)
No gain-of-function mutations reported for RBFOX3.
Dominant Negative (DN)
Missense mutations in the RNA-binding domain may act dominant-negative by competing with wild-type RBFOX3 for target pre-mRNAs.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Alternative splicing regulation (Reactome: R-HSA-72163)
• mRNA splicing - major pathway (Reactome: R-HSA-72163)
• Neuronal system (Reactome: R-HSA-112316)
Protein Summary
RBFOX3 is a 370-amino acid RNA-binding protein containing a single RRM (RNA recognition motif) domain. It binds to (U)GCAUG motifs in pre-mRNAs and regulates alternative splicing in neurons. The protein is predominantly nuclear and is a canonical marker for post-mitotic neurons (NeuN).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RBFOX3 Knockout HEK293 Cell Line | EDJ-KQ3003 | Human | 146713 | Details Get a Quote |
| RBFOX3 Knockout A-549 Cell Line | EDJ-KQ24207 | Human | 146713 | Details Get a Quote |
| RBFOX3 Knockout HeLa Cell Line | EDJ-KQ58551 | Human | 146713 | Details Get a Quote |
| RBFOX3 Knockout HCT 116 Cell Line | EDJ-KQ75442 | Human | 146713 | Details Get a Quote |
