UPF3B
Homo sapiens
Gene Name: UPF3B, regulator of nonsense mediated mRNA decay
Aliases: HUPF3B, MRXS14, RENT3B, UPF3X
Chromosome No: X
Chromosome Band: Xq24
Genetic Category: Syndromic-Rare single gene variant-
Associated Syndrome(s): X-linked syndromic mental retardation-14 (MRXS14)
Aliases: HUPF3B, MRXS14, RENT3B, UPF3X
Chromosome No: X
Chromosome Band: Xq24
Genetic Category: Syndromic-Rare single gene variant-
Associated Syndrome(s): X-linked syndromic mental retardation-14 (MRXS14)
Summary Statistics:
ASD Reports: 20
Recent Reports: 5
Annotated variants: 33
Associated CNVs: 10
Evidence score: 3
ASD Reports: 20
Recent Reports: 5
Annotated variants: 33
Associated CNVs: 10
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
Defects in UPF3B are the cause of a syndromic form of mental retardation, mental retardation syndromic X-linked type 14 (MRXS14) [MIM:300676]. A subset of individuals with MRXS14 are also either diagnosed with autism or are found to exhibit autistic features (Tarpey et al., 2007; Laumonnier et al., 2010; Addington et al., 2011; Lynch et al., 2012).
Molecular Function
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.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.
X-linked syndromic mental retardation-14 (MRXS14)
Autistic features
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
A synonymous UPF3B variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networks
ASD, DD
Support
Exome sequencing identifies UPF3B as the causative gene for a Chinese non-syndrome mental retardation pedigree.
ID
Support
Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability.
ID
Support
Unveiling genetic insights: Array-CGH and WES discoveries in a cohort of 122 children with essential autism spectrum disorder
ASD
Support
A nonconservative amino acid change in the UPF3B gene in a patient with schizophrenia.
SCZ
Support
Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82).
ID
ASD
Support
The genetic landscape of autism spectrum disorder in the Middle Eastern population
ASD
Support
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: experience of two clinical units and 216 patients.
ID
Macrocephaly, hypotonia, absent speech
Support
Expanding the phenotype of UPF3B-related disorder: Case reports and literature review
DD, ID
Autistic features, stereotypy, epilepsy/seizures
Support
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
ASD
Support
Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations
ASD, ID
DD
Support
Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.
DD, ID, epilepsy/seizures
Support
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
ASD, DD
Recent Recommendation
Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or withou...
X-linked syndromic mental retardation-14 (MRXS14)
ID, ASD
Recent Recommendation
Full UPF3B function is critical for neuronal differentiation of neural stem cells.
Recent Recommendation
The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour an...
Recent Recommendation
Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay.
DD, ID
ASD or autistic features
Recent Recommendation
A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders.
ASD, ADHD
SCZ
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN364R001
frameshift_variant
c.674_677del
p.Arg225LysfsTer22
Familial
Maternal
Multiplex
GEN364R002
stop_gained
c.1288C>T
p.Arg430Ter
Familial
Maternal
Multi-generational
GEN364R003
missense_variant
c.478T>G
p.Tyr160Asp
Familial
Unknown (likely maternal)
Multi-generational
GEN364R004
stop_gained
c.1081C>T
p.Arg361Ter
Familial
Maternal
Multi-generational
GEN364R005
missense_variant
c.1136G>A
p.Arg379His
Unknown (likely maternal)
Multiplex
GEN364R006
missense_variant
c.1103G>A
p.Arg368Gln
Familial
Maternal
Simplex
GEN364R007
frameshift_variant
c.684_687del
p.Arg229LysfsTer18
Familial
Maternal
Multiplex
GEN364R008
frameshift_variant
c.697_698del
p.Arg233GlufsTer32
Familial
Maternal
Multiplex
GEN364R009
stop_gained
c.1288C>T
p.Arg430Ter
Familial
Maternal
Multi-generational
GEN364R013
frameshift_variant
c.1125_1128del
p.Gln376ArgfsTer17
De novo
Simplex
GEN364R016
stop_gained
c.118C>T
p.Gln40Ter
Familial
Maternal
Multi-generational
GEN364R018
missense_variant
c.1118G>A
p.Arg373His
Familial
Maternal
Unknown
GEN364R030
frameshift_variant
c.1285_1286del
p.Asp429SerfsTer27
De novo
Simplex
GEN364R031
frameshift_variant
c.674_677del
p.Arg225LysfsTer22
Familial
Maternal
Simplex
Common
No Common Variants Available