Human Gene Module / Chromosome 8 / AGO2

AGO2argonaute RISC catalytic component 2

Score
2
Strong Candidate Criteria 2.1
Autism Reports / Total Reports
0 / 1
Rare Variants / Common Variants
17 / 0
Aliases
AGO2, CASC7,  EIF2C2,  LINC00980,  PPD,  Q10
Associated Syndromes
-
Genetic Category
Syndromic
Chromosome Band
8q24.3
Associated Disorders
ASD
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.

Reports related to AGO2 (1 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary Germline AGO2 mutations impair RNA interference and human neurological development Lessel D et al. (2020) No Autistic features
Rare Variants   (17)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
- - copy_number_loss De novo NA - 33199684 Lessel D et al. (2020)
c.575T>C p.Leu192Pro missense_variant De novo NA - 33199684 Lessel D et al. (2020)
c.602G>T p.Gly201Val missense_variant De novo NA - 33199684 Lessel D et al. (2020)
c.1070C>T p.Thr357Met missense_variant De novo NA - 33199684 Lessel D et al. (2020)
c.1717G>A p.Gly573Ser missense_variant De novo NA - 33199684 Lessel D et al. (2020)
c.2252G>A p.Cys751Tyr missense_variant De novo NA - 33199684 Lessel D et al. (2020)
c.575T>C p.Leu192Pro missense_variant De novo NA Simplex 33199684 Lessel D et al. (2020)
c.601G>T p.Gly201Cys missense_variant De novo NA Simplex 33199684 Lessel D et al. (2020)
c.602G>T p.Gly201Val missense_variant De novo NA Simplex 33199684 Lessel D et al. (2020)
c.609T>A p.His203Gln missense_variant De novo NA Simplex 33199684 Lessel D et al. (2020)
c.1091T>C p.Met364Thr missense_variant De novo NA Simplex 33199684 Lessel D et al. (2020)
c.1099G>C p.Ala367Pro missense_variant De novo NA Simplex 33199684 Lessel D et al. (2020)
c.2197G>C p.Gly733Arg missense_variant De novo NA Simplex 33199684 Lessel D et al. (2020)
c.2280C>G p.Ser760Arg missense_variant De novo NA Simplex 33199684 Lessel D et al. (2020)
c.544_546del p.Phe182del inframe_deletion De novo NA Simplex 33199684 Lessel D et al. (2020)
c.1070C>T p.Thr357Met missense_variant Familial Maternal Simplex 33199684 Lessel D et al. (2020)
c.2252G>A p.Cys751Tyr missense_variant De novo NA Multiplex (monozygotic twins) 33199684 Lessel D et al. (2020)
Common Variants  

No common variants reported.

Submit New Gene

Report an Error