AGO2
Homo sapiens
Gene Name: argonaute RISC catalytic component 2
Aliases: CASC7, EIF2C2, LINC00980, PPD, Q10
Chromosome No: 8
Chromosome Band: 8q24.3
Genetic Category: Syndromic-Rare single gene variant
Aliases: CASC7, EIF2C2, LINC00980, PPD, Q10
Chromosome No: 8
Chromosome Band: 8q24.3
Genetic Category: Syndromic-Rare single gene variant
Summary Statistics:
ASD Reports: 2
Recent Reports: 0
Annotated variants: 20
Associated CNVs: 8
Evidence score: 3
ASD Reports: 2
Recent Reports: 0
Annotated variants: 20
Associated CNVs: 8
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
Lessel et al., 2020 identified 13 heterozygous variants in the AGO2 gene that impaired shRNA-meidated silencing in 21 patients affected by disturbances in neurological development; all 21 affected individuals presented with intellectual disability, motor delay, and delayed speech and language development, while 9/16 (56%) of affected individuals also presented with autistic features.
Molecular Function
This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, and contains a PAZ domain and a PIWI domain. It may interact with dicer1 and play a role in short-interfering-RNA-mediated gene silencing.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Germline AGO2 mutations impair RNA interference and human neurological development
DD, ID
Autistic features
