U2AF1 Chromosome 21
U2 small nuclear RNA auxiliary factor 1
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What This Gene Does
This gene belongs to the splicing factor SR family of genes. U2 auxiliary factor, comprising a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the small subunit which plays a critical role in both constitutive and enhancer-dependent RNA splicing by directly mediating interactions between the large subunit and proteins bound to the enhancers. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Zinc fingers CCCH-type|RNA binding motif containing|Spliceosomal A complex|Spliceosomal E complex"
Locus Type
gene with protein product
Location
21q22.3
Ensembl
ENSG00000160201
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS371246226 | Health Risk | Likely pathogenic | — |