AGO4 (Argonaute 4, RISC Catalytic Component)
A key component of the RNA-induced silencing complex (RISC) involved in gene silencing via small non-coding RNAs.
Gene Information Card
| Symbol | AGO4 |
|---|---|
| Full Name | Argonaute 4, RISC Catalytic Component |
| Gene Type | Protein coding |
| Chromosomal Location | 1p34.3 |
| NCBI Gene ID | 192670 ncbi.nlm.nih.gov/gene/192670 |
| Ensembl ID | ENSG00000134698 |
| UniProt ID | Q9H9G7 |
| OMIM ID | 610621 |
| HGNC ID | 18424 |
| Aliases | EIF2C4, hAgo4, KIAA1567 |
Description
AGO4 (Argonaute 4) encodes a member of the Argonaute family of proteins, which are essential components of the RNA-induced silencing complex (RISC). AGO4 binds small non-coding RNAs such as microRNAs (miRNAs) and small interfering RNAs (siRNAs) to mediate post-transcriptional gene silencing through mRNA cleavage or translational repression. It is involved in diverse biological processes including development, stem cell maintenance, and antiviral defense.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of AGO4 expression alters miRNA-mediated gene silencing, promoting oncogenesis or tumor suppression. | PubMed, COSMIC |
| Neurodevelopmental disorders | AGO4 variants may impair miRNA processing, affecting neuronal gene expression and synaptic function. | ClinVar, OMIM |
| Viral infections | AGO4 participates in antiviral RNAi; altered expression can modulate host susceptibility. | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebellum) | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney cells; moderate expression |
| HeLa | 7.8 | Cervical cancer cells; low expression |
| K562 | 5.4 | Leukemia cells; low expression |
| HepG2 | 4.2 | Hepatocellular carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown; predicted damaging by in silico tools |
| c.567_568del (p.Glu190fs) | Frameshift | <0.01% | Loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the PAZ or PIWI domains, disrupting RNA binding and slicer activity.
Gain of Function (GOF)
Not well documented; potential missense mutations altering target specificity remain uncharacterized.
Dominant Negative (DN)
Not reported for AGO4.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • miRNA binding |
| • siRNA binding | • endoribonuclease activity |
| • gene silencing by RNA | • RISC complex assembly |
| • regulation of translation |
Pathways
• RNA interference (RNAi) pathway
• microRNA biogenesis and function
• Gene silencing by small RNAs
Protein Summary
AGO4 is a 90 kDa protein containing an N-terminal domain, PAZ domain, MID domain, and C-terminal PIWI domain. The PAZ domain binds the 3' end of small RNAs, while the PIWI domain provides endonuclease (slicer) activity for mRNA cleavage. AGO4 localizes to processing bodies (P-bodies) and interacts with GW182 family proteins to mediate translational repression and mRNA decay.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AGO4 Knockout HEK293 Cell Line | EDJ-KQ12311 | Human | 192670 | Details Get a Quote |
| AGO4 Knockout HCT 116 Cell Line | EDC09803 | Human | 192670 | Details Get a Quote |
| AGO4 Knockout HeLa Cell Line | EDJ-KQ41147 | Human | 192670 | Details Get a Quote |
| AGO4 Knockout A-549 Cell Line | EDJ-KQ39889 | Human | 192670 | Details Get a Quote |
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