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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
AGO2
argonaute RISC catalytic component 2
Chromosome 8 Β· 8q24.3
NCBI Gene: 27161Ensembl: ENSG00000123908.12HGNC: HGNC:3263UniProt: Q9UKV8
585PubMed Papers
21Diseases
0Drugs
17Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneTranscription Factor
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
siRNA bindingRNA 7-methylguanosine cap bindingRNA polymerase II complex bindingcore promoter sequence-specific DNA bindingLessel-Kreienkamp syndromehypothyroidismcancergenetic disorder
✦AI Summary

AGO2 is the catalytically active member of the Argonaute family and serves as the core component of the RNA-induced silencing complex (RISC) 1. Primary function: AGO2 mediates post-transcriptional gene silencing through miRNA and siRNA-guided mRNA cleavage and translational repression 2. Mechanistically, AGO2 contains four functional domains (N, PAZ, MID, and PIWI) that enable target RNA recognition and catalytic slicing 3. The N domain rotates to allow RNA access to the central channel, while a conserved PIWI loop secures RNA near the active site to enhance slicing rate and specificity 3. AGO2 localizes to both cytoplasm and nucleus, where it assembles into P-bodies through liquid-liquid phase separation interactions with YTHDF1 4. Nuclear AGO2 can activate transcription of genes like ANKRD1, promoting myocardial remodeling in heart failure 5. Beyond canonical silencing, AGO2 regulates alternative polyadenylation, transposon repression, chr8 remodeling, and double-strand break repair 2. Disease relevance: Mutations in AGO2 cause Lessel-Kreienkamp syndrome. AGO2 is upregulated in failing hearts and contributes to cardiac dysfunction 5. Clinical significance: AGO2 is central to RNA interference-based therapeuties. Understanding AGO2 structural dynamics 3 and proper tagging approaches 6 is essential for reliable RISC biology research and therapeutic development.

Sources cited
1
AGO2 loads mature miRNAs into RISC and facilitates gene silencing as core machinery component
PMID: 26662984
2
AGO2 contains four functional domains and roles in both cytoplasmic silencing and nuclear gene regulation processes
PMID: 32164444
3
Structural basis for AGO2 RNA slicing: N domain rotation and PIWI domain loop enhance catalytic activity and specificity
PMID: 39932188
4
AGO2 interacts with YTHDF1 and localizes to P-bodies formed through liquid-liquid phase separation for mRNA degradation
PMID: 34821414
5
Nuclear AGO2 overexpression exacerbates cardiac dysfunction by activating ANKRD1 transcription in heart failure
PMID: 38475992
6
C-terminal tagging impairs AGO2 RNA cleavage, silencing activity, and nuclear localization; validation of tagging strategies is critical
PMID: 40698645
Disease Associationsβ“˜21
Lessel-Kreienkamp syndromeOpen Targets
0.73Strong
hypothyroidismOpen Targets
0.52Moderate
cancerOpen Targets
0.49Moderate
genetic disorderOpen Targets
0.47Moderate
atopic eczemaOpen Targets
0.44Moderate
myxedemaOpen Targets
0.42Moderate
thyroid diseaseOpen Targets
0.41Moderate
Intellectual disabilityOpen Targets
0.37Weak
SeizureOpen Targets
0.37Weak
complex neurodevelopmental disorderOpen Targets
0.37Weak
hearing lossOpen Targets
0.33Weak
autoimmune diseaseOpen Targets
0.32Weak
Hashimoto's thyroiditisOpen Targets
0.31Weak
age-related hearing impairmentOpen Targets
0.31Weak
Neurodevelopmental disorderOpen Targets
0.27Weak
primary ovarian insufficiencyOpen Targets
0.27Weak
heart failureOpen Targets
0.26Weak
iron metabolism diseaseOpen Targets
0.24Weak
atrial fibrillationOpen Targets
0.18Weak
heart diseaseOpen Targets
0.17Weak
Lessel-Kreienkamp syndromeUniProt
Pathogenic Variants17
NM_012154.5(AGO2):c.1810G>A (p.Gly604Arg)Pathogenic
Lessel-Kreienkamp syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 604
NM_012154.5(AGO2):c.2140C>T (p.Arg714Trp)Pathogenic
not provided|Neurodevelopmental disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 714
NM_012154.5(AGO2):c.602G>T (p.Gly201Val)Pathogenic
Lessel-Kreienkamp syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 201
NM_012154.5(AGO2):c.1070C>T (p.Thr357Met)Pathogenic
Lessel-Kreienkamp syndrome|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 357
NM_012154.5(AGO2):c.2252G>A (p.Cys751Tyr)Pathogenic
Lessel-Kreienkamp syndrome|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2022β†’ Residue 751
NM_012154.5(AGO2):c.1879G>A (p.Ala627Thr)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 627
NM_012154.5(AGO2):c.1517G>A (p.Arg506Gln)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 506
NM_012154.5(AGO2):c.1082_1090dup (p.Thr363_Met364insThrSerThr)Likely pathogenic
Lessel-Kreienkamp syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 363
NM_012154.5(AGO2):c.1019C>A (p.Pro340His)Likely pathogenic
Lessel-Kreienkamp syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 340
NM_012154.5(AGO2):c.1093A>G (p.Ile365Val)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 365
NM_012154.5(AGO2):c.541TTC[1] (p.Phe182del)Pathogenic
Lessel-Kreienkamp syndrome|not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 182
NM_012154.5(AGO2):c.575T>C (p.Leu192Pro)Pathogenic
Lessel-Kreienkamp syndrome
β˜…β˜†β˜†β˜†2023β†’ Residue 192
NM_012154.5(AGO2):c.2479G>T (p.Gly827Ter)Likely pathogenic
Premature ovarian failure 3
β˜…β˜†β˜†β˜†2022β†’ Residue 827
NM_012154.5(AGO2):c.2389G>A (p.Val797Met)Likely pathogenic
Lessel-Kreienkamp syndrome
β˜…β˜†β˜†β˜†2022β†’ Residue 797
NM_012154.5(AGO2):c.1619T>C (p.Leu540Pro)Likely pathogenic
Lessel-Kreienkamp syndrome
β˜…β˜†β˜†β˜†2021β†’ Residue 540
NM_012154.5(AGO2):c.1091T>C (p.Met364Thr)Pathogenic
Lessel-Kreienkamp syndrome
β˜†β˜†β˜†β˜†2021β†’ Residue 364
NM_012154.5(AGO2):c.2197G>C (p.Gly733Arg)Pathogenic
Lessel-Kreienkamp syndrome
β˜†β˜†β˜†β˜†2021β†’ Residue 733
View on ClinVar β†—
Related Genes
DDX6Protein interaction100%DHX9Protein interaction100%GEMIN4Protein interaction100%DDX20Protein interaction100%FMR1Protein interaction100%HSP90AA1Protein interaction100%
Tissue Expression6 tissues
Lung
100%
Ovary
89%
Brain
86%
Heart
63%
Bone Marrow
62%
Liver
36%
Gene Interaction Network
Click a node to explore
AGO2DDX6DHX9GEMIN4DDX20FMR1HSP90AA1
PROTEIN STRUCTURE
Preparing viewer…
PDB9BF2 Β· 1.59 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.10Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.05 [0.02–0.10]
RankingsWhere AGO2 stands among ~20K protein-coding genes
  • #408of 20,598
    Most Researched585 Β· top 5%
  • #2,305of 5,498
    Most Pathogenic Variants17
  • #63of 17,882
    Most Constrained (LOEUF)0.10 Β· top 1%
Genes detectedAGO2
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
YTHDF1 promotes mRNA degradation via YTHDF1-AGO2 interaction and phase separation.
PMID: 34821414
Cell Prolif Β· 2022
1.00
2
m6A modification inhibits miRNAs' intracellular function, favoring their extracellular export for intercellular communication.
PMID: 38878288
Cell Rep Β· 2024
0.90
3
Nuclear AGO2 promotes myocardial remodeling by activating ANKRD1 transcription in failing hearts.
PMID: 38475992
Mol Ther Β· 2024
0.90
4
Glutamatergic argonaute2 promotes the formation of the neurovascular unit in mice.
PMID: 39999211
Sci Signal Β· 2025
0.84
5
Ago2/CAV1 interaction potentiates metastasis via controlling Ago2 localization and miRNA action.
PMID: 38649663
EMBO Rep Β· 2024
0.82