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-Syndromic/Functional
Associated Syndrome(s): Lessel-Kreienkamp syndrome
Aliases: CASC7, EIF2C2, LINC00980, PPD, Q10
Chromosome No: 8
Chromosome Band: 8q24.3
Genetic Category: Syndromic-Rare single gene variant-Syndromic/Functional
Associated Syndrome(s): Lessel-Kreienkamp syndrome
Summary Statistics:
ASD Reports: 4
Recent Reports: 0
Annotated variants: 21
Associated CNVs: 8
Evidence score: 4
ASD Reports: 4
Recent Reports: 0
Annotated variants: 21
Associated CNVs: 8
Evidence score: 4
| 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
Support
Glutamatergic argonaute2 promotes the formation of the neurovascular unit in mice
Lessel-Kreienkamp syndrome
Support
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
DD, epilepsy/seizures
Stereotypy
