Gene Gene information from NCBI Gene database.
Entrez ID 27161
Gene name Argonaute RISC catalytic component 2
Gene symbol AGO2
Synonyms (NCBI Gene)
CASC7EIF2C2LESKRESLINC00980PPDQ10
Chromosome 8
Chromosome location 8q24.3
Summary 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-me
miRNA miRNA information provided by mirtarbase database.
2382
miRTarBase ID miRNA Experiments Reference
MIRT007020 hsa-miR-376a-3p Luciferase reporter assay 21556037
MIRT007020 hsa-miR-376a-3p Luciferase reporter assay 21556037
MIRT007020 hsa-miR-376a-3p Luciferase reporter assay 21556037
MIRT024741 hsa-miR-215-5p Microarray 19074876
MIRT026680 hsa-miR-192-5p Microarray 19074876
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
115
GO ID Ontology Definition Evidence Reference
GO:0000340 Function RNA 7-methylguanosine cap binding IDA 17524464
GO:0000340 Function RNA 7-methylguanosine cap binding IEA
GO:0000932 Component P-body IDA 20616046, 22915799, 23125361
GO:0000932 Component P-body IEA
GO:0000993 Function RNA polymerase II complex binding IDA 25336585
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606229 3263 ENSG00000123908
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UKV8
Protein name Protein argonaute-2 (Argonaute2) (hAgo2) (EC 3.1.26.n2) (Argonaute RISC catalytic component 2) (Eukaryotic translation initiation factor 2C 2) (eIF-2C 2) (eIF2C 2) (PAZ Piwi domain protein) (PPD) (Protein slicer)
Protein function Required for RNA-mediated gene silencing (RNAi) by the RNA-induced silencing complex (RISC). The 'minimal RISC' appears to include AGO2 bound to a short guide RNA such as a microRNA (miRNA) or short interfering RNA (siRNA). These guide RNAs dire
PDB 3LUC , 3LUD , 3LUG , 3LUH , 3LUJ , 3LUK , 3QX8 , 3QX9 , 4F3T , 4OLA , 4OLB , 4W5N , 4W5O , 4W5Q , 4W5R , 4W5T , 4Z4C , 4Z4D , 4Z4E , 4Z4F , 4Z4G , 4Z4H , 4Z4I , 5JS1 , 5JS2 , 5KI6 , 5T7B , 5WEA , 6CBD , 6MDZ , 6MFN , 6MFR , 6N4O , 6NIT , 6RA4 , 7C6B , 7D7U , 7KI3 , 8D6J , 8D71 , 8THQ , 9BEZ , 9BF0 , 9BF2 , 9CMP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16486 ArgoN 36 166 N-terminal domain of argonaute Domain
PF08699 ArgoL1 176 226 Argonaute linker 1 domain Domain
PF02170 PAZ 231 365 PAZ domain Domain
PF16488 ArgoL2 374 420 Argonaute linker 2 domain Family
PF16487 ArgoMid 429 511 Mid domain of argonaute Domain
PF02171 Piwi 517 818 Piwi domain Family
Sequence
MYSGAGPALAPPAPPPPIQGYAFKPPPRPDFGTSGRTIKLQANFFEMDIPKIDIYHYELD
IKPEKCPRRVNREIVEHMVQHFKTQIFGDRKPVFDGRKNLYTAMPLPIGRDKVELEVTLP
GEGKDRIFKVSIKWVSCVSLQALHDALSGRLPSVPFETIQALDVVM
RHLPSMRYTPVGRS
FFTASEGCSNPLGGGREVWFGFHQSVRPSLWKMMLNIDVSATAFYK
AQPVIEFVCEVLDF
KSIEEQQKPLTDSQRVKFTKEIKGLKVEITHCGQMKRKYRVCNVTRRPASHQTFPLQQES
GQTVECTVAQYFKDRHKLVLRYPHLPCLQVGQEQKHTYLPLEVCNIVAGQRCIKKLTDNQ
TSTMI
RATARSAPDRQEEISKLMRSASFNTDPYVREFGIMVKDEMTDVTGRVLQPPSILY
GGRNKAIATPVQGVWDMRNKQFHTGIEIKVWAIACFAPQRQCTEVHLKSFTEQLRKISRD
AGMPIQGQPCFCKYAQGADSVEPMFRHLKNT
YAGLQLVVVILPGKTPVYAEVKRVGDTVL
GMATQCVQMKNVQRTTPQTLSNLCLKINVKLGGVNNILLPQGRPPVFQQPVIFLGADVTH
PPAGDGKKPSIAAVVGSMDAHPNRYCATVRVQQHRQEIIQDLAAMVRELLIQFYKSTRFK
PTRIIFYRDGVSEGQFQQVLHHELLAIREACIKLEKDYQPGITFIVVQKRHHTRLFCTDK
NERVGKSGNIPAGTTVDTKITHPTEFDFYLCSHAGIQGTSRPSHYHVLWDDNRFSSDELQ
ILTYQLCHTYVRCTRSVSIPAPAYYAHLVAFRARYHLV
DKEHDSAEGSHTSGQSNGRDHQ
ALAKAVQVHQDTLRTMYFA
Sequence length 859
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Pre-NOTCH Transcription and Translation
MicroRNA (miRNA) biogenesis
Ca2+ pathway
Small interfering RNA (siRNA) biogenesis
Post-transcriptional silencing by small RNAs
Transcriptional regulation by small RNAs
TP53 Regulates Metabolic Genes
MAPK6/MAPK4 signaling
Regulation of RUNX1 Expression and Activity
Regulation of PTEN mRNA translation
Competing endogenous RNAs (ceRNAs) regulate PTEN translation
Transcriptional Regulation by MECP2
Estrogen-dependent gene expression
NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Lessel-Kreienkamp syndrome Likely pathogenic; Pathogenic rs2132941125, rs1564077207, rs2540704889, rs1467755029, rs2540729687, rs2073179658, rs2073092496, rs2073092234, rs2072680461, rs2073180302, rs2072681689 RCV001785279
RCV001795619
RCV002466934
RCV002795910
RCV003989087
View all (6 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder Likely pathogenic; Pathogenic rs866981753 RCV002276887
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Premature ovarian failure 3 Likely pathogenic rs2540671184 RCV003324100
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AGO2-related disorder Benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLAUCOMA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEARING LOSS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 31090156
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 23201202
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 30429351
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 26497687, 28432871
★☆☆☆☆
Found in Text Mining only
Adult type dermatomyositis Dermatomyositis BEFREE 28673815
★☆☆☆☆
Found in Text Mining only
Amyloidosis cutis dyschromia Amyloidosis Cutis Dyschromia BEFREE 28889150
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 29499134
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 30042387
★☆☆☆☆
Found in Text Mining only
Aortic Valve Insufficiency Aortic Valve Insufficiency BEFREE 22391564
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 2972742 Associate
★☆☆☆☆
Found in Text Mining only