AGO2: Argonaute RISC Catalytic Component 2
Key regulator of microRNA-mediated gene silencing and RNA interference
Gene Information Card
| Symbol | AGO2 |
|---|---|
| Full Name | Argonaute RISC Catalytic Component 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 8q24.3 |
| NCBI Gene ID | 27161 ncbi.nlm.nih.gov/gene/27161 |
| Ensembl ID | ENSG00000123908 |
| UniProt ID | Q9UKV8 |
| OMIM ID | 606229 |
| HGNC ID | 3263 |
| Aliases | EIF2C2, Argonaute2, hAgo2, PAZ, Piwi domain containing 2 |
Description
AGO2 encodes Argonaute 2, a core component of the RNA-induced silencing complex (RISC). It possesses endonuclease (slicer) activity and mediates microRNA- and small interfering RNA-directed mRNA cleavage, translational repression, and gene silencing. AGO2 is essential for mammalian development and is implicated in cancer, neurodevelopmental disorders, and viral infections.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with motor and language delay (NEDMILA) | Loss-of-function mutations in AGO2 impair RISC activity, disrupting miRNA-mediated regulation of neuronal genes. | ClinVar, OMIM |
| Breast cancer | AGO2 overexpression enhances oncogenic miRNA processing and silencing of tumor suppressor mRNAs. | NCBI Gene, COSMIC |
| Gastric cancer | AGO2 amplification and increased expression promote cell proliferation and metastasis via miRNA dysregulation. | COSMIC, PubMed |
| Hepatocellular carcinoma | AGO2 upregulation correlates with poor prognosis and altered miRNA expression profiles. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Brain | 18.2 | High |
| Lung | 12.1 | Medium |
| Liver | 10.8 | Medium |
| Heart | 8.4 | Medium |
| Kidney | 7.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 22.3 | High expression |
| HeLa | 18.7 | High expression |
| MCF7 | 15.2 | Medium expression |
| HepG2 | 13.6 | Medium expression |
| A549 | 11.4 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon; likely loss of function |
| c.113G>A (p.Arg38His) | Missense | <0.01% | Impaired slicer activity; associated with NEDMILA |
| c.130G>A (p.Glu44Lys) | Missense | <0.01% | Reduced RISC loading; neurodevelopmental phenotype |
| c.1792C>T (p.Arg598Trp) | Missense | <0.01% | Dominant negative effect; severe developmental delay |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the PAZ or PIWI domains that disrupt RNA binding or slicer activity (e.g., p.Arg38His).
Gain of Function (GOF)
Amplification or overexpression in cancers leading to enhanced miRNA silencing of tumor suppressors.
Dominant Negative (DN)
Mutations such as p.Arg598Trp that interfere with wild-type AGO2 function in RISC assembly.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003723 - RNA binding | • GO:0004521 - endoribonuclease activity |
| • GO:0005515 - protein binding | • GO:0031047 - gene silencing by RNA |
| • GO:0006342 - chromatin silencing | • GO:0016442 - RISC complex assembly |
| • GO:0070887 - miRNA-mediated gene silencing |
Pathways
• hsa03013 - RNA transport
• hsa03015 - mRNA surveillance pathway
• hsa04120 - Ubiquitin mediated proteolysis
• hsa05200 - Pathways in cancer
• hsa05206 - MicroRNAs in cancer
Protein Summary
AGO2 (Argonaute 2) is a 97 kDa protein containing PAZ and PIWI domains. The PAZ domain binds the 3' end of small RNAs, while the PIWI domain provides RNase H-like endonuclease activity. AGO2 is the only human Argonaute with slicer activity, essential for RNAi. It localizes to processing bodies (P-bodies) and interacts with Dicer, TRBP, and GW182 to form the RISC loading complex.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AGO2 Knockout Huh-7 Cell Line | EDJ-KQ78096 | Human | 27161 | Details Get a Quote |
| AGO2 Knockout A-549 Cell Line | EDJ-KQ78111 | Human | 27161 | Details Get a Quote |
| AGO2 Knockout HAP1 Cell Line | EDJ-KQ78112 | Human | 27161 | Details Get a Quote |
| AGO2 Knockout HEK293T Cell Line | EDJ-KQ78145 | Human | 27161 | Details Get a Quote |
| AGO2 Knockout HCT 116 Cell Line | EDJ-KQ78146 | Human | 27161 | Details Get a Quote |
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