AGO4 (argonaute RISC component 4)

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Gene Gene information from NCBI Gene database.
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Entrez ID 192670
Gene name Argonaute RISC component 4
Gene symbol AGO4
Synonyms (NCBI Gene)
EIF2C4
Chromosome 1
Chromosome location 1p34.3
Summary This gene encodes a member of the Argonaute family of proteins which contain PAZ and PIWI domains and play an integral role in RNA interference and short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a cluster of related
miRNA miRNA information provided by mirtarbase database.
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miRTarBase ID miRNA Experiments Reference
MIRT003522 hsa-let-7a-5p Luciferase reporter assay 20144220
MIRT003522 hsa-let-7a-5p Luciferase reporter assay 20144220
MIRT018390 hsa-miR-335-5p Microarray 18185580
MIRT020926 hsa-miR-155-5p Reporter assay;Other 20584899
MIRT031007 hsa-miR-21-5p Microarray 18591254
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0000932 Component P-body IEA
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding IEA
GO:0003725 Function Double-stranded RNA binding IDA 19966796
GO:0003725 Function Double-stranded RNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
607356 18424 ENSG00000134698
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HCK5
Protein name Protein argonaute-4 (Argonaute4) (hAgo4) (Argonaute RISC catalytic component 4) (Eukaryotic translation initiation factor 2C 4) (eIF-2C 4) (eIF2C 4)
Protein function Required for RNA-mediated gene silencing (RNAi). Binds to short RNAs such as microRNAs (miRNAs) and represses the translation of mRNAs which are complementary to them. Lacks endonuclease activity and does not appear to cleave target mRNAs. Also
PDB 6OON
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02170 PAZ 221 → 355 PAZ domain Domain
PF02171 Piwi 509 → 820 Piwi domain Family
PF08699 ArgoL1 166 → 216 Argonaute linker 1 domain Domain
PF16486 ArgoN 26 → 156 N-terminal domain of argonaute Domain
PF16487 ArgoMid 421 → 503 Mid domain of argonaute Domain
PF16488 ArgoL2 364 → 412 Argonaute linker 2 domain Family
Sequence 
MEALGPGPPASLFQPPRRPGLGTVGKPIRLLANHFQVQIPKIDVYHYDVDIKPEKRPRRV
NREVVDTMVRHFKMQIFGDRQPGYDGKRNMYTAHPLPIGRDRVDMEVTLPGEGKDQTFKV
SVQWVSVVSLQLLLEALAGHLNEVPDDSVQALDVITRHLPSMRYTPVGRSFFSPPEGYYH
PLGGGREVWFGFHQSVRPAMWNMMLNIDVSATAFYRAQPIIEFMCEVLDIQNINEQTKPL
TDSQRVKFTKEIRGLKVEVTHCGQMKRKYRVCNVTRRPASHQTFPLQLENGQAMECTVAQ
YFKQKYSLQLKYPHLPCLQVGQEQKHTYLPLEVCNIVAGQRCIKKLTDNQTSTMIKATAR
SAPDRQEEISRLVKSNSMVGGPDPYLKEFGIVVHNEMTELTGRVLPAPMLQYGGRNKTVA
TPNQGVWDMRGKQFYAGIEIKVWAVACFAPQKQCREDLLKSFTDQLRKISKDAGMPIQGQ
PCFCKYAQGADSVEPMFKHLKMTYVGLQLIVVILPGKTPVYAEVKRVGDTLLGMATQCVQ
VKNVVKTSPQTLSNLCLKINAKLGGINNVLVPHQRPSVFQQPVIFLGADVTHPPAGDGKK
PSIAAVVGSMDGHPSRYCATVRVQTSRQEISQELLYSQEVIQDLTNMVRELLIQFYKSTR
FKPTRIIYYRGGVSEGQMKQVAWPELIAIRKACISLEEDYRPGITYIVVQKRHHTRLFCA
DKTERVGKSGNVPAGTTVDSTITHPSEFDFYLCSHAGIQGTSRPSHYQVLWDDNCFTADE
LQLLTYQLCHTYVRCTRSVSIPAPAYYARLVAFRARYHLVDKDHDSAEGSHVSGQSNGRD
PQALAKAVQIHHDTQHTMYFA
Sequence length 861
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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Reactome Pathway
Pre-NOTCH Transcription and Translation
MicroRNA (miRNA) biogenesis
Oxidative Stress Induced Senescence
Oncogene Induced Senescence
Ca2+ pathway
Small interfering RNA (siRNA) biogenesis
Post-transcriptional silencing by small RNAs
TP53 Regulates Metabolic Genes
MAPK6/MAPK4 signaling
Transcriptional Regulation by VENTX
Regulation of RUNX1 Expression and Activity
RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
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.).
2
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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)
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 Reference Evidence Score
AGO4-related disorder Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA — GWAS catalog 26198764, 31740837, 39753749
★★★★★
★★☆☆☆
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
Breast Carcinoma Breast Carcinoma BEFREE 18787018
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 18787018
★★★★★
★☆☆☆☆
Found in Text Mining only
Mammary Neoplasms Mammary Neoplasms BEFREE 18787018
★★★★★
★☆☆☆☆
Found in Text Mining only
Small Cell Lung Carcinoma Small cell lung carcinoma Pubtator 30627556 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
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AGO3 17 shared pathwaysTP53 Regulates Metabolic Genes, Pre-NOTCH Transcription and Translation, Oxidative Stress Induced Senescence, NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux, Oncogene Induced Senescence, MAPK6/MAPK4 signaling, Regulation of RUNX1 Expression and Activity, Estrogen-dependent gene expression, RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function, Transcriptional Regulation by VENTX, Ca2+ pathway, MicroRNA (miRNA) biogenesis +5 more Related via 17 shared pathways including TP53 Regulates Metabolic Genes, Pre-NOTCH Transcription and Translation. AGO1 17 shared pathwaysTP53 Regulates Metabolic Genes, Pre-NOTCH Transcription and Translation, Oxidative Stress Induced Senescence, NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux, Oncogene Induced Senescence, MAPK6/MAPK4 signaling, Regulation of RUNX1 Expression and Activity, Estrogen-dependent gene expression, RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function, Transcriptional Regulation by VENTX, Ca2+ pathway, MicroRNA (miRNA) biogenesis +5 more Related via 17 shared pathways including TP53 Regulates Metabolic Genes, Pre-NOTCH Transcription and Translation. TNRC6B 15 shared pathwaysTP53 Regulates Metabolic Genes, Pre-NOTCH Transcription and Translation, Oxidative Stress Induced Senescence, NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux, Oncogene Induced Senescence, MAPK6/MAPK4 signaling, Regulation of RUNX1 Expression and Activity, Estrogen-dependent gene expression, RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function, Transcriptional Regulation by VENTX, Ca2+ pathway, Post-transcriptional silencing by small RNAs +3 more Related via 15 shared pathways including TP53 Regulates Metabolic Genes, Pre-NOTCH Transcription and Translation. TNRC6C 15 shared pathwaysTP53 Regulates Metabolic Genes, Pre-NOTCH Transcription and Translation, Oxidative Stress Induced Senescence, NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux, Oncogene Induced Senescence, MAPK6/MAPK4 signaling, Regulation of RUNX1 Expression and Activity, Estrogen-dependent gene expression, RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function, Transcriptional Regulation by VENTX, Ca2+ pathway, Post-transcriptional silencing by small RNAs +3 more Related via 15 shared pathways including TP53 Regulates Metabolic Genes, Pre-NOTCH Transcription and Translation. TNRC6A 15 shared pathwaysTP53 Regulates Metabolic Genes, Pre-NOTCH Transcription and Translation, Oxidative Stress Induced Senescence, NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux, Oncogene Induced Senescence, MAPK6/MAPK4 signaling, Regulation of RUNX1 Expression and Activity, Estrogen-dependent gene expression, RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function, Transcriptional Regulation by VENTX, Ca2+ pathway, Post-transcriptional silencing by small RNAs +3 more Related via 15 shared pathways including TP53 Regulates Metabolic Genes, Pre-NOTCH Transcription and Translation.
Metabolic syndrome Linked via 3 of 5 related genesTNRC6B, TNRC6C, TNRC6A Diabetes mellitus type 2 Linked via 3 of 5 related genesTNRC6B, TNRC6C, TNRC6A Neurodevelopmental disorder Linked via 2 of 5 related genesAGO1, TNRC6B Intellectual developmental disorder Linked via 2 of 5 related genesAGO1, TNRC6C Non-specific syndromic intellectual disability Linked via 2 of 5 related genesAGO1, TNRC6B