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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RBFOX2
RNA binding fox-1 homolog 2
Chromosome 22 Β· 22q12.3
NCBI Gene: 23543Ensembl: ENSG00000100320.24HGNC: HGNC:9906UniProt: A0A8Q3WKT3
152PubMed Papers
20Diseases
0Drugs
4Pathogenic Variants
RESEARCH IMPACT
Trending
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleusestrogen receptor signaling pathwaynegative regulation of DNA-templated transcriptiontranscription corepressor activitygenetic disorderAbnormality of the skeletal systemcongenital heart diseaseneurodegenerative disease
✦AI Summary

RBFOX2 is an RNA-binding protein that regulates alternative splicing by recognizing specific RNA sequence motifs, particularly 5'-UGCAUGU-3' elements 1. Beyond classical splicing regulation, RBFOX2 functions as a multifaceted regulatory factor with diverse biological roles. It acts as a chr22-associated RNA reader, recognizing N6-methyladenosine (m6A) modifications and recruiting methyltransferase complexes to regulate transcription 2. RBFOX2 also facilitates m5C-to-5hmC conversion on chr22-associated RNAs, contributing to mRNA degradation 3. In cancer contexts, RBFOX2 acts as a potent tumor suppressor. Its overexpression dramatically reduces metastatic potential in pancreatic ductal adenocarcinoma by regulating splicing of RHO GTPase pathway genes, particularly MPRIP, which controls cytoskeletal organization 4. Downregulation of RBFOX2 promotes pancreatic cancer progression through altered splicing of cytoskeletal remodeling genes like ABI1 5. In glioblastoma, FBXO7-mediated stabilization of RBFOX2 confers mesenchymal properties and chemoresistance by controlling FoxM1 splicing 6. In acute myeloid leukemia, RBFOX2 is essential for leukemia stem cell maintenance and patient survival 2. Clinically, de novo RBFOX2 mutations are associated with congenital heart disease, neurodevelopmental disabilities, and multiple congenital anomalies 7, suggesting developmental roles in cardiac and neurological systems.

Sources cited
1
RBFOX2 binds canonical 5'-UGCAUGU-3' motifs with structural specificity measured by RNA secondary structure inhibition
PMID: 24837674
2
RBFOX2 recognizes m6A-modified chromatin-associated RNAs and recruits MTC/PRC2 for transcriptional suppression; required for AML maintenance
PMID: 37640841
3
RBFOX2 acts as a 5hmC-specific reader to facilitate degradation of modified chromatin-associated RNAs
PMID: 38547058
4
RBFOX2 overexpression suppresses pancreatic cancer metastasis by regulating RHO GTPase pathway splicing, particularly MPRIP
PMID: 36949200
5
RBFOX2 downregulation promotes pancreatic cancer progression through altered splicing of cytoskeletal genes including ABI1
PMID: 38114498
6
FBXO7-stabilized RBFOX2 confers glioblastoma mesenchymal properties and chemoresistance through FoxM1 splicing
PMID: 37822160
7
De novo RBFOX2 mutations associate with congenital heart disease, neurodevelopmental disabilities, and congenital anomalies
PMID: 26785492
Disease Associationsβ“˜20
genetic disorderOpen Targets
0.47Moderate
Abnormality of the skeletal systemOpen Targets
0.42Moderate
congenital heart diseaseOpen Targets
0.41Moderate
neurodegenerative diseaseOpen Targets
0.36Weak
rheumatic heart diseaseOpen Targets
0.29Weak
Atrophy/Degeneration affecting the central nervous systemOpen Targets
0.28Weak
KeloidOpen Targets
0.27Weak
placenta praeviaOpen Targets
0.24Weak
Alzheimer diseaseOpen Targets
0.21Weak
HepatomegalyOpen Targets
0.19Weak
strictureOpen Targets
0.18Weak
intestinal obstructionOpen Targets
0.18Weak
polycythemia veraOpen Targets
0.17Weak
mathematical abilityOpen Targets
0.17Weak
cancerOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.10Suggestive
nasopharyngeal carcinomaOpen Targets
0.08Suggestive
glioblastoma multiformeOpen Targets
0.08Suggestive
pancreatic neoplasmOpen Targets
0.07Suggestive
type 2 diabetes mellitusOpen Targets
0.07Suggestive
Pathogenic Variants4
NM_001349999.2(RBFOX2):c.1218C>G (p.Tyr406Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 406
NM_001349999.2(RBFOX2):c.352C>T (p.Gln118Ter)Likely pathogenic
RBFOX2-related congenital heart disorder
β˜…β˜†β˜†β˜†2025β†’ Residue 118
NM_001349999.2(RBFOX2):c.754G>T (p.Glu252Ter)Likely pathogenic
RBFOX2-related congenital heart disorder
β˜…β˜†β˜†β˜†2025β†’ Residue 252
NM_001349999.2(RBFOX2):c.523dup (p.Ser175fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2017β†’ Residue 175
View on ClinVar β†—
Related Genes
KHDRBS1Protein interaction96%HNRNPMProtein interaction92%ESRP2Protein interaction91%ATXN1Protein interaction91%RBPMSProtein interaction91%PUM2Protein interaction91%
Tissue Expression6 tissues
Ovary
100%
Heart
89%
Brain
70%
Liver
43%
Lung
32%
Bone Marrow
3%
Gene Interaction Network
Click a node to explore
RBFOX2KHDRBS1HNRNPMESRP2ATXN1RBPMSPUM2
PROTEIN STRUCTURE
Preparing viewer…
PDB2CQ3 Β· NMR
View on RCSB β†—
RankingsWhere RBFOX2 stands among ~20K protein-coding genes
  • #2,980of 20,598
    Most Researched152 Β· top quartile
  • #3,715of 5,498
    Most Pathogenic Variants4
Genes detectedRBFOX2
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Alternative isoform regulation in human tissue transcriptomes.
PMID: 18978772
Nature Β· 2008
1.00
2
RBFOX2 modulates a metastatic signature of alternative splicing in pancreatic cancer.
PMID: 36949200
Nature Β· 2023
0.90
3
RBFOX2 recognizes N
PMID: 37640841
Nat Cell Biol Β· 2023
0.80
4
RBFOX2 deregulation promotes pancreatic cancer progression and metastasis through alternative splicing.
PMID: 38114498
Nat Commun Β· 2023
0.70
5
RBFOX2: An RNA-binding protein with alternative splicing and non-alternative splicing regulatory functions.
PMID: 41172617
Exp Mol Pathol Β· 2025
0.64