AGO2 Chromosome 8
Argonaute RISC catalytic component 2
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What This Gene Does
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]
Gene Info
Gene Group
"Endoribonucleases|RISC loading complex subunits|Argonaute RISC component family"
Locus Type
gene with protein product
Location
8q24.3
Ensembl
ENSG00000123908
Associated Conditions (4)
Lessel-Kreienkamp syndrome
Premature ovarian failure 3
Inborn genetic diseases
Neurodevelopmental disorder
Key Variants
RS2540691084
Conflicting classifications of pathogenicity
Lessel-Kreienkamp syndrome, Lessel-Kreienkamp syndrome
Health Risk
RS1467755029
Likely pathogenic
Lessel-Kreienkamp syndrome, Lessel-Kreienkamp syndrome
Health Risk
RS2540671184
Likely pathogenic
Premature ovarian failure 3, Premature ovarian failure 3
Health Risk
RS2540704889
Likely pathogenic
Lessel-Kreienkamp syndrome, Lessel-Kreienkamp syndrome
Health Risk
RS2540726643
Likely pathogenic
Health Risk
RS2540729687
Likely pathogenic
Lessel-Kreienkamp syndrome, Lessel-Kreienkamp syndrome
Health Risk
RS2072681689
Pathogenic
Lessel-Kreienkamp syndrome, Lessel-Kreienkamp syndrome
Health Risk
RS2073092234
Pathogenic
Lessel-Kreienkamp syndrome, Lessel-Kreienkamp syndrome
Health Risk
RS2073092496
Pathogenic
Lessel-Kreienkamp syndrome, Inborn genetic diseases, Lessel-Kreienkamp syndrome
Health Risk
RS2073179658
Pathogenic
Lessel-Kreienkamp syndrome, Lessel-Kreienkamp syndrome
Health Risk
RS2073180302
Pathogenic
Lessel-Kreienkamp syndrome, Lessel-Kreienkamp syndrome
Health Risk
RS1564077207
Pathogenic/Likely pathogenic
Lessel-Kreienkamp syndrome, Lessel-Kreienkamp syndrome
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2540691084 | Health Risk | Conflicting classifications of pathogenicity | Lessel-Kreienkamp syndrome, Lessel-Kreienkamp syndrome |
| RS1467755029 | Health Risk | Likely pathogenic | Lessel-Kreienkamp syndrome, Lessel-Kreienkamp syndrome |
| RS2540671184 | Health Risk | Likely pathogenic | Premature ovarian failure 3, Premature ovarian failure 3 |
| RS2540704889 | Health Risk | Likely pathogenic | Lessel-Kreienkamp syndrome, Lessel-Kreienkamp syndrome |
| RS2540726643 | Health Risk | Likely pathogenic | — |
| RS2540729687 | Health Risk | Likely pathogenic | Lessel-Kreienkamp syndrome, Lessel-Kreienkamp syndrome |
| RS2072681689 | Health Risk | Pathogenic | Lessel-Kreienkamp syndrome, Lessel-Kreienkamp syndrome |
| RS2073092234 | Health Risk | Pathogenic | Lessel-Kreienkamp syndrome, Lessel-Kreienkamp syndrome |
| RS2073092496 | Health Risk | Pathogenic | Lessel-Kreienkamp syndrome, Inborn genetic diseases, Lessel-Kreienkamp syndrome |
| RS2073179658 | Health Risk | Pathogenic | Lessel-Kreienkamp syndrome, Lessel-Kreienkamp syndrome |
| RS2073180302 | Health Risk | Pathogenic | Lessel-Kreienkamp syndrome, Lessel-Kreienkamp syndrome |
| RS1564077207 | Health Risk | Pathogenic/Likely pathogenic | Lessel-Kreienkamp syndrome, Lessel-Kreienkamp syndrome |
| RS2072680461 | Health Risk | Pathogenic/Likely pathogenic | Lessel-Kreienkamp syndrome, Inborn genetic diseases, Lessel-Kreienkamp syndrome |
| RS2132941125 | Health Risk | Pathogenic/Likely pathogenic | Lessel-Kreienkamp syndrome, Lessel-Kreienkamp syndrome |
| RS866981753 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |