Gene: RBFOX3

Alternate names for this Gene: FOX-3|FOX3|HRNBP3|NEUN

Gene Summary: 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-rich region. This gene produces the neuronal nuclei (NeuN) antigen that has been widely used as a marker for post-mitotic neurons. This gene has its highest expression in the central nervous system and plays a prominent role in neural tissue development and regulation of adult brain function. Mutations in this gene have been associated with numerous neurological disorders. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms.

Gene is located in Chromosome: 17

Location in Chromosome : 17q25.3

Description of this Gene: RNA binding fox-1 homolog 3

Type of Gene: protein-coding

rs35570576 in RBFOX3 gene and Autosomal dominant compelling helio ophthalmic outburst syndrome PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs898534 in RBFOX3 gene and Body mass index PMID 25811787 2015 Modulation of genetic associations with serum urate levels by body-mass-index in humans.

rs972548690 in RBFOX3 gene and Epilepsy, Rolandic PMID 29358611 2018 Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

rs11650709 in RBFOX3 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs143203352 in RBFOX3 gene and Phosphatidylcholine measurement PMID 31551469 2019 Genetic architecture of human plasma lipidome and its link to cardiovascular disease.

rs12949587 in RBFOX3 gene and Secondary malignant neoplasm of colon and/or rectum PMID 30738427 2019 A genome-wide association study identifies single nucleotide polymorphisms associated with time-to-metastasis in colorectal cancer.

rs7211029 in RBFOX3 gene and Sleep Onset Latency PMID 27142678 2016 We found a cluster of three highly correlated variants (rs9900428, rs9907432 and rs7211029) in the RNA-binding protein fox-1 homolog 3 gene (RBFOX3) associated with sleep latency (P-values=5.77 × 10(-08), 6.59 × 10(-)(08) and 9.17 × 10(-)(08)).

rs79211555 in RBFOX3 gene and Smoking PMID 26053186 2015 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.

rs79211555 in RBFOX3 gene and Smoking Behaviors PMID 26053186 2015 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.

rs1000791 in RBFOX3 gene and Uric acid measurement (procedure) PMID 25811787 2015 Modulation of genetic associations with serum urate levels by body-mass-index in humans.

rs2061538 in RBFOX3 gene and response to ACE inhibitor PMID 28030426 2017 Meta-analysis of genome-wide association studies on the intolerance of angiotensin-converting enzyme inhibitors.