RBFOX3 (RNA binding fox-1 homolog 3)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
146713
Gene name Gene Name - the full gene name approved by the HGNC.
RNA binding fox-1 homolog 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RBFOX3
Synonyms (NCBI Gene) Gene synonyms aliases
FOX-3, FOX3, HRNBP3, NEUN
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q25.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the RNA-binding FOX protein family which is involved in the regulation of alternative splicing of pre-mRNA. The protein has an N-terminal proline-rich region, an RNA recognition motif (RRM) domain, and a C-terminal alanine-ri
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs972548690 G>A,T Pathogenic, likely-benign Stop gained, synonymous variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(21)
miRTarBase ID miRNA Experiments Reference
MIRT1294322 hsa-miR-129-5p CLIP-seq
MIRT1294323 hsa-miR-2115 CLIP-seq
MIRT1294324 hsa-miR-4742-3p CLIP-seq
MIRT1294325 hsa-miR-516a-3p CLIP-seq
MIRT1552979 hsa-miR-1307 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(14)
GO ID Ontology Definition Evidence Reference
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IBA
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IEA
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding IEA
GO:0003729 Function MRNA binding IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616999 27097 ENSG00000167281
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID A6NFN3
Protein name RNA binding protein fox-1 homolog 3 (Fox-1 homolog C) (Neuronal nuclei antigen) (NeuN antigen)
Protein function Pre-mRNA alternative splicing regulator. Regulates alternative splicing of RBFOX2 to enhance the production of mRNA species that are targeted for nonsense-mediated decay (NMD).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 101 → 169 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF12414 Fox-1_C 208 → 297 Calcitonin gene-related peptide regulator C terminal Family
Sequence 
MAQPYPPAQYPPPPQNGIPAEYAPPPPHPTQDYSGQTPVPTEHGMTLYTPAQTHPEQPGS
EASTQPIAGTQTVPQTDEAAQTDSQPLHPSDPTEKQQPKRLHVSNIPFRFRDPDLRQMFG
QFGKILDVEIIFNERGSKGFGFVTFETSSDADRAREKLNGTIVEGRKIEVNNATARVMTN
KKTGNPYTNGWKLNPVVGAVYGPEFYAVTGFPYPTTGTAVAYRGAHLRGRGRAVYNTFRA
APPPPPIPTYGAVVYQDGFYGAEIYGGYAAYRYAQPAAAAAAYSDSYGRVYAAADPYHHT
IGPAATYSIGTM
Sequence length 312
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Colorectal Cancer Metastasis in stage I-III microsatellite instability low/stable colorectal cancer (time to event) N/A N/A GWAS
Epilepsy idiopathic generalized epilepsy, epilepsy N/A N/A ClinVar, GenCC
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Show/Hide Text Mining Associations (26)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AIDS Associated Nephropathy Associate 24215932
Alzheimer Disease Inhibit 28598851
Astrocytoma Associate 29768357
Carcinoma Merkel Cell Associate 34974547
Cholesterol pneumonia Associate 30369316
Cleft Palate Associate 23512105
Cognition Disorders Associate 24215932
Developmental Disabilities Associate 24603971
Down Syndrome Associate 29509279, 35232286
Epilepsy Idiopathic Generalized Associate 24039908