AGO2

Chr 8AD

argonaute RISC catalytic component 2

Also known as: CASC7, EIF2C2, LESKRES, LINC00980, PPD, Q10

NCBI Gene: 27161 ENSG00000123908 UniProt: Q9UKV8 OMIM: 606229

This protein is essential for RNA-mediated gene silencing, functioning as the catalytic component of the RNA-induced silencing complex (RISC) that uses microRNAs and small interfering RNAs to regulate gene expression through mRNA cleavage or translational repression. Mutations cause Lessel-Kreienkamp syndrome, an autosomal dominant neurodevelopmental disorder. The gene is highly constrained against loss-of-function mutations (pLI >0.99, LOEUF 0.106), indicating that complete protein loss is likely incompatible with normal development.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Lessel-Kreienkamp syndromeMIM #619149

Clinical highlights

Gene-disease validity (ClinGen)

Lessel-Kreienkamp syndrome · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

213

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.11

LOEUF· LoF intol.

LOF

Mechanism· predicted

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