RBFOX2 Chromosome 22
RNA binding fox-1 homolog 2
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What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"RNA binding motif containing|RNA binding fox-1 homologs"
Locus Type
gene with protein product
Location
22q12.3
Ensembl
ENSG00000100320
Associated Conditions (2)
RBFOX2-related congenital heart disorder
Inborn genetic diseases
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2148138686 | Health Risk | Likely pathogenic | RBFOX2-related congenital heart disorder, RBFOX2-related congenital heart disorder |
| RS1555902810 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |