Gene: RBFOX2

Alternate names for this Gene: FOX2|Fox-2|HNRBP2|HRNBP2|RBM9|RTA|dJ106I20.3|fxh

Gene Summary: This gene is one of several human genes similar to the C. elegans gene Fox-1. This gene encodes an RNA binding protein that is thought to be a key regulator of alternative exon splicing in the nervous system and other cell types. The protein binds to a conserved UGCAUG element found downstream of many alternatively spliced exons and promotes inclusion of the alternative exon in mature transcripts. The protein also interacts with the estrogen receptor 1 transcription factor and regulates estrogen receptor 1 transcriptional activity. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 22

Location in Chromosome : 22q12.3

Description of this Gene: RNA binding fox-1 homolog 2

Type of Gene: protein-coding

rs5995177 in RBFOX2 gene and Dyslexia PMID 25065397 2014 Genome-wide screening for DNA variants associated with reading and language traits.

rs1555902810 in RBFOX2 gene and Dysmorphic features PMID 16260614 2005 Homologues of the Caenorhabditis elegans Fox-1 protein are neuronal splicing regulators in mammals.

PMID 26785492 2015 De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

PMID 25205790 2014 Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.

PMID 27211866 2016 RBFox2 Binds Nascent RNA to Globally Regulate Polycomb Complex 2 Targeting in Mammalian Genomes.

PMID 27485310 2016 Rbfox2 function in RNA metabolism is impaired in hypoplastic left heart syndrome patient hearts.

PMID 25753418 2015 Repression of the Central Splicing Regulator RBFox2 Is Functionally Linked to Pressure Overload-Induced Heart Failure.

rs147428040 in RBFOX2 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1555902810 in RBFOX2 gene and Movement Disorders PMID 27485310 2016 Rbfox2 function in RNA metabolism is impaired in hypoplastic left heart syndrome patient hearts.

PMID 25205790 2014 Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.

PMID 25753418 2015 Repression of the Central Splicing Regulator RBFox2 Is Functionally Linked to Pressure Overload-Induced Heart Failure.

PMID 27211866 2016 RBFox2 Binds Nascent RNA to Globally Regulate Polycomb Complex 2 Targeting in Mammalian Genomes.

PMID 16260614 2005 Homologues of the Caenorhabditis elegans Fox-1 protein are neuronal splicing regulators in mammals.

PMID 26785492 2015 De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

rs1555902810 in RBFOX2 gene and Multiple congenital anomalies PMID 27211866 2016 RBFox2 Binds Nascent RNA to Globally Regulate Polycomb Complex 2 Targeting in Mammalian Genomes.

PMID 25205790 2014 Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.

PMID 27485310 2016 Rbfox2 function in RNA metabolism is impaired in hypoplastic left heart syndrome patient hearts.

PMID 26785492 2015 De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

PMID 16260614 2005 Homologues of the Caenorhabditis elegans Fox-1 protein are neuronal splicing regulators in mammals.

PMID 25753418 2015 Repression of the Central Splicing Regulator RBFox2 Is Functionally Linked to Pressure Overload-Induced Heart Failure.

rs1555902810 in RBFOX2 gene and Muscle hypotonia PMID 27211866 2016 RBFox2 Binds Nascent RNA to Globally Regulate Polycomb Complex 2 Targeting in Mammalian Genomes.

PMID 16260614 2005 Homologues of the Caenorhabditis elegans Fox-1 protein are neuronal splicing regulators in mammals.

PMID 27485310 2016 Rbfox2 function in RNA metabolism is impaired in hypoplastic left heart syndrome patient hearts.

PMID 25205790 2014 Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.

PMID 26785492 2015 De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

PMID 25753418 2015 Repression of the Central Splicing Regulator RBFox2 Is Functionally Linked to Pressure Overload-Induced Heart Failure.

rs147428040 in RBFOX2 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs147428040 in RBFOX2 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs5995177 in RBFOX2 gene and Specific language impairment PMID 25065397 2014 Genome-wide screening for DNA variants associated with reading and language traits.

rs150801052 in RBFOX2 gene and Suicide attempt PMID 30116032 2018 Genetics of suicide attempts in individuals with and without mental disorders: a population-based genome-wide association study.

rs5750184 in RBFOX2 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.