UPF3B Chromosome X
UPF3B regulator of nonsense mediated mRNA decay
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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. The encoded protein is one of two functional homologs to yeast Upf3p. 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 binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. It forms with Y14 a complex that binds specifically 20 nt upstream of exon-exon junctions. This gene is located on the long arm of chromosome X. Two splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
DECID complex
Locus Type
gene with protein product
Location
Xq24
Ensembl
ENSG00000125351
Associated Conditions (10)
Syndromic X-linked intellectual disability 14
Inborn genetic diseases
UPF3B-related disorder
Neurodevelopmental disorder
Nonpapillary renal cell carcinoma
Severe global developmental delay
Microcephaly
Cataract
Intellectual disability
UPF3B-associated intellectual disability
Key Variants
RS140032597
Conflicting classifications of pathogenicity
Syndromic X-linked intellectual disability 14, Syndromic X-linked intellectual disability 14
Health Risk
RS1402767794
Conflicting classifications of pathogenicity
Inborn genetic diseases, Syndromic X-linked intellectual disability 14, Inborn genetic diseases
Health Risk
RS143538947
Conflicting classifications of pathogenicity
Syndromic X-linked intellectual disability 14, Inborn genetic diseases, Syndromic X-linked intellectual disability 14
Health Risk
RS146785878
Conflicting classifications of pathogenicity
Syndromic X-linked intellectual disability 14, Inborn genetic diseases, UPF3B-related disorder
Health Risk
RS147945173
Conflicting classifications of pathogenicity
Inborn genetic diseases, Syndromic X-linked intellectual disability 14, Inborn genetic diseases
Health Risk
RS187600102
Conflicting classifications of pathogenicity
Inborn genetic diseases, Syndromic X-linked intellectual disability 14, Inborn genetic diseases
Health Risk
RS2056115071
Conflicting classifications of pathogenicity
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2056116060
Conflicting classifications of pathogenicity
UPF3B-related disorder, Syndromic X-linked intellectual disability 14, Nonpapillary renal cell carcinoma
Health Risk
RS2147802765
Conflicting classifications of pathogenicity
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS372808214
Conflicting classifications of pathogenicity
Syndromic X-linked intellectual disability 14, Inborn genetic diseases, Syndromic X-linked intellectual disability 14
Health Risk
RS373920032
Conflicting classifications of pathogenicity
Inborn genetic diseases, Syndromic X-linked intellectual disability 14, Inborn genetic diseases
Health Risk
RS55712755
Conflicting classifications of pathogenicity
Syndromic X-linked intellectual disability 14, Syndromic X-linked intellectual disability 14
Health Risk
All Variants (45)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140032597 | Health Risk | Conflicting classifications of pathogenicity | Syndromic X-linked intellectual disability 14, Syndromic X-linked intellectual disability 14 |
| RS1402767794 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Syndromic X-linked intellectual disability 14, Inborn genetic diseases |
| RS143538947 | Health Risk | Conflicting classifications of pathogenicity | Syndromic X-linked intellectual disability 14, Inborn genetic diseases, Syndromic X-linked intellectual disability 14 |
| RS146785878 | Health Risk | Conflicting classifications of pathogenicity | Syndromic X-linked intellectual disability 14, Inborn genetic diseases, UPF3B-related disorder |
| RS147945173 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Syndromic X-linked intellectual disability 14, Inborn genetic diseases |
| RS187600102 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Syndromic X-linked intellectual disability 14, Inborn genetic diseases |
| RS2056115071 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2056116060 | Health Risk | Conflicting classifications of pathogenicity | UPF3B-related disorder, Syndromic X-linked intellectual disability 14, Nonpapillary renal cell carcinoma |
| RS2147802765 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS372808214 | Health Risk | Conflicting classifications of pathogenicity | Syndromic X-linked intellectual disability 14, Inborn genetic diseases, Syndromic X-linked intellectual disability 14 |
| RS373920032 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Syndromic X-linked intellectual disability 14, Inborn genetic diseases |
| RS55712755 | Health Risk | Conflicting classifications of pathogenicity | Syndromic X-linked intellectual disability 14, Syndromic X-linked intellectual disability 14 |
| RS746233157 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Syndromic X-linked intellectual disability 14, Inborn genetic diseases |
| RS754650766 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Syndromic X-linked intellectual disability 14, Inborn genetic diseases |
| RS754982440 | Health Risk | Conflicting classifications of pathogenicity | Severe global developmental delay, Microcephaly, Cataract |
| RS770557726 | Health Risk | Conflicting classifications of pathogenicity | Syndromic X-linked intellectual disability 14, Inborn genetic diseases, Syndromic X-linked intellectual disability 14 |
| RS775715153 | Health Risk | Conflicting classifications of pathogenicity | Syndromic X-linked intellectual disability 14, Syndromic X-linked intellectual disability 14 |
| RS780652469 | Health Risk | Conflicting classifications of pathogenicity | Syndromic X-linked intellectual disability 14, Syndromic X-linked intellectual disability 14 |
| RS1472437659 | Health Risk | Likely pathogenic | — |
| RS1480554912 | Health Risk | Likely pathogenic | Syndromic X-linked intellectual disability 14, Syndromic X-linked intellectual disability 14 |
| RS2056119926 | Health Risk | Likely pathogenic | Intellectual disability, Syndromic X-linked intellectual disability 14, Intellectual disability |
| RS2521526324 | Health Risk | Likely pathogenic | Syndromic X-linked intellectual disability 14, Syndromic X-linked intellectual disability 14 |
| RS2521574129 | Health Risk | Likely pathogenic | Syndromic X-linked intellectual disability 14, Syndromic X-linked intellectual disability 14 |
| RS2521576667 | Health Risk | Likely pathogenic | Syndromic X-linked intellectual disability 14, Syndromic X-linked intellectual disability 14 |
| RS376175156 | Health Risk | Likely pathogenic | Syndromic X-linked intellectual disability 14, UPF3B-related disorder, Syndromic X-linked intellectual disability 14 |
| RS1064794254 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability 14, Syndromic X-linked intellectual disability 14 |
| RS1131691699 | Health Risk | Pathogenic | — |
| RS122468181 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability 14, Syndromic X-linked intellectual disability 14 |
| RS122468182 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability 14, Syndromic X-linked intellectual disability 14 |
| RS1556377028 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability 14, Syndromic X-linked intellectual disability 14 |
| RS1569464167 | Health Risk | Pathogenic | — |
| RS1603370185 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability 14, Syndromic X-linked intellectual disability 14 |
| RS1603371016 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability 14, Syndromic X-linked intellectual disability 14 |
| RS2056117839 | Health Risk | Pathogenic | — |
| RS2147783395 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability 14, Syndromic X-linked intellectual disability 14 |
| RS2147787275 | Health Risk | Pathogenic | — |
| RS2147787295 | Health Risk | Pathogenic | Inborn genetic diseases, Syndromic X-linked intellectual disability 14, Inborn genetic diseases |
| RS2147787331 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability 14, Syndromic X-linked intellectual disability 14 |
| RS2521510445 | Health Risk | Pathogenic | — |
| RS2521511100 | Health Risk | Pathogenic | — |
| RS2521545000 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability 14, Syndromic X-linked intellectual disability 14 |
| RS2521577196 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability 14, Syndromic X-linked intellectual disability 14 |
| RS2521577214 | Health Risk | Pathogenic | — |
| RS2521582948 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS794727881 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability 14, UPF3B-associated intellectual disability, Inborn genetic diseases |