RBFOX1 RNA binding fox-1 homolog 1
Gene ID: 54715, updated on 10-Oct-2024Gene type: protein coding
Also known as: 2BP1; FOX1; A2BP1; FOX-1; HRNBP1
- See all available tests in GTR for this gene
- Go to complete Gene record for RBFOX1
- Go to Variation Viewer for RBFOX1 variants
Summary
The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of sleep habits and insomnia. GeneReviews: Not available | |
| A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. GeneReviews: Not available | |
| Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study. GeneReviews: Not available | |
| Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan. GeneReviews: Not available | |
| Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum. GeneReviews: Not available | |
| Genome-wide association and admixture analysis of glaucoma in the Women's Health Initiative. GeneReviews: Not available | |
| Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. GeneReviews: Not available | |
| Genome-wide association study and meta-analysis of intraocular pressure. GeneReviews: Not available | |
| Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. GeneReviews: Not available | |
| Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1. GeneReviews: Not available | |
| Genome-wide association study of chronic periodontitis in a general German population. GeneReviews: Not available | |
| Genome-Wide Association Study of Primary Dentition Pit-and-Fissure and Smooth Surface Caries. GeneReviews: Not available | |
| Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. GeneReviews: Not available | |
| Genome-wide meta-analysis for severe diabetic retinopathy. GeneReviews: Not available | |
| Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 Loci. GeneReviews: Not available | |
| Genomewide association study of movement-related adverse antipsychotic effects. GeneReviews: Not available | |
| Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. GeneReviews: Not available | |
| Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error. GeneReviews: Not available | |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available |
Genomic context
- Location:
- 16p13.3
- Sequence:
- Chromosome: 16; NC_000016.10 (5239721..7713340)
- Total number of exons:
- 30
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RBFOX1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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