U2AF2 Chromosome 19
U2 small nuclear RNA auxiliary factor 2
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What This Gene Does
U2 auxiliary factor (U2AF), comprised of 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 U2AF large subunit which contains a sequence-specific RNA-binding region with 3 RNA recognition motifs and an Arg/Ser-rich domain necessary for splicing. The large subunit binds to the polypyrimidine tract of introns early during spliceosome assembly. Multiple transcript variants have been detected for this gene, but the full-length natures of only two have been determined to date. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"RNA binding motif containing|Spliceosomal A complex|Spliceosomal E complex"
Locus Type
gene with protein product
Location
19q13.42
Ensembl
ENSG00000063244
Associated Conditions (6)
Neurodevelopmental disorder
Leukodystrophy
Developmental delay
dysmorphic facies
and brain anomalies
Inborn genetic diseases
Key Variants
RS2123691990
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2514215337
Likely pathogenic
Leukodystrophy, Leukodystrophy
Health Risk
RS1600073584
Pathogenic
Developmental delay, dysmorphic facies, and brain anomalies
Health Risk
RS2123678169
Pathogenic
Health Risk
RS2514219045
Pathogenic
Developmental delay, dysmorphic facies, and brain anomalies
Health Risk
RS2123678139
Pathogenic/Likely pathogenic
Developmental delay, dysmorphic facies, and brain anomalies
Health Risk
RS2514215278
Pathogenic/Likely pathogenic
Inborn genetic diseases, Developmental delay, dysmorphic facies
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2123691990 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2514215337 | Health Risk | Likely pathogenic | Leukodystrophy, Leukodystrophy |
| RS1600073584 | Health Risk | Pathogenic | Developmental delay, dysmorphic facies, and brain anomalies |
| RS2123678169 | Health Risk | Pathogenic | — |
| RS2514219045 | Health Risk | Pathogenic | Developmental delay, dysmorphic facies, and brain anomalies |
| RS2123678139 | Health Risk | Pathogenic/Likely pathogenic | Developmental delay, dysmorphic facies, and brain anomalies |
| RS2514215278 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Developmental delay, dysmorphic facies |