UPF2 Chromosome 10

UPF2 regulator of nonsense mediated mRNA decay
2 variants 2 Health Risk

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What This Gene Does
This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein is located in the perinuclear area. It interacts with translation release factors and the proteins that are functional homologs of yeast Upf1p and Upf3p. Two splice variants have been found for this gene; both variants encode the same protein. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"DECID complex|MIF4G domain containing proteins"
Locus Type
gene with protein product
Location
10p14
Ensembl
ENSG00000151461
Associated Conditions (1)
Autism spectrum disorder
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS1834606114 Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS1488895098 Health Risk Pathogenic
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