AGO3
Homo sapiens
Gene Name: argonaute RISC catalytic component 3
Aliases: EIF2C3
Chromosome No: 1
Chromosome Band: 1p34.3
Genetic Category: Rare single gene variant-
Aliases: EIF2C3
Chromosome No: 1
Chromosome Band: 1p34.3
Genetic Category: Rare single gene variant-
Summary Statistics:
ASD Reports: 8
Recent Reports: 1
Annotated variants: 9
Associated CNVs: 1
Evidence score: 3
ASD Reports: 8
Recent Reports: 1
Annotated variants: 9
Associated CNVs: 1
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
De novo missense variants in the AGO3 gene have been identified in two probands with ASD (De Rubeis et al., 2014; Yuen et al., 2017) and one proband with an unspecified developmental disorder (Deciphering Developmental Disorders Study 2017). An integrated meta-analysis of de novo mutation data from a combined dataset of 10,927 individuals with neurodevelopmental disorders identified AGO3 as a gene with an excess of missense variants with CADD scores > 30 (false discovery rata < 5%, count >1) (Coe et al., 2018).
Molecular Function
Required for RNA-mediated gene silencing (RNAi). Binds to short RNAs such as microRNAs (miRNAs) and represses the translation of mRNAs which are complementary to them.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
ASD, DD
Support
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
ASD
Recent Recommendation
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.
