AGO2 Gene (Protein Coding)

Argonaute RISC Catalytic Component 2

GC08M140522
GIFtS:
41
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 R... See more...

Aliases for AGO2 Gene

Aliases for AGO2 Gene

  • Argonaute RISC Catalytic Component 2 2 3 4 5
  • Cancer Susceptibility Candidate 7 (Non-Protein Coding) 2 3
  • Eukaryotic Translation Initiation Factor 2C, 2 2 3
  • PAZ Piwi Domain Protein 3 4
  • Protein Argonaute-2 3 4
  • Protein Slicer 3 4
  • LINC00980 2 3
  • EIF2C2 3 4
  • PPD 3 4
  • Q10 2 3
  • Eukaryotic Translation Initiation Factor 2C 2 4
  • Long Intergenic Non-Protein Coding RNA 980 3
  • Argonaute 2, RISC Catalytic Component 3
  • EC 3.1.26.n1 51
  • EC 3.1.26.n2 4
  • Argonaute 2 2
  • Argonaute2 4
  • EIF-2C 2 4
  • LESKRES 3
  • EIF2C 2 4
  • CASC7 3
  • HAGO2 2
  • HAgo2 4
  • AGO2 5

External Ids for AGO2 Gene

Previous HGNC Symbols for AGO2 Gene

  • EIF2C2
  • CASC7

Previous GeneCards Identifiers for AGO2 Gene

  • GC08M141542
  • GC08M140531

Summaries for AGO2 Gene

Entrez Gene Summary for AGO2 Gene

  • 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]

GeneCards Summary for AGO2 Gene

AGO2 (Argonaute RISC Catalytic Component 2) is a Protein Coding gene. Diseases associated with AGO2 include Lessel-Kreienkamp Syndrome and Colorectal Cancer. Among its related pathways are Downstream signaling events of B Cell Receptor (BCR) and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is AGO1.

UniProtKB/Swiss-Prot Summary for AGO2 Gene

  • 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 direct RISC to complementary mRNAs that are targets for RISC-mediated gene silencing. The precise mechanism of gene silencing depends on the degree of complementarity between the miRNA or siRNA and its target. Binding of RISC to a perfectly complementary mRNA generally results in silencing due to endonucleolytic cleavage of the mRNA specifically by AGO2. Binding of RISC to a partially complementary mRNA results in silencing through inhibition of translation, and this is independent of endonuclease activity. May inhibit translation initiation by binding to the 7-methylguanosine cap, thereby preventing the recruitment of the translation initiation factor eIF4-E. May also inhibit translation initiation via interaction with EIF6, which itself binds to the 60S ribosomal subunit and prevents its association with the 40S ribosomal subunit. The inhibition of translational initiation leads to the accumulation of the affected mRNA in cytoplasmic processing bodies (P-bodies), where mRNA degradation may subsequently occur. In some cases RISC-mediated translational repression is also observed for miRNAs that perfectly match the 3' untranslated region (3'-UTR). Can also up-regulate the translation of specific mRNAs under certain growth conditions. Binds to the AU element of the 3'-UTR of the TNF (TNF-alpha) mRNA and up-regulates translation under conditions of serum starvation. Also required for transcriptional gene silencing (TGS), in which short RNAs known as antigene RNAs or agRNAs direct the transcriptional repression of complementary promoter regions.

Gene Wiki entry for AGO2 Gene

Additional gene information for AGO2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AGO2 Gene

Genomics for AGO2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for AGO2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AGO2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AGO2

Genomic Locations for AGO2 Gene

Latest Assembly
chr8:140,520,156-140,642,406
(GRCh38/hg38)
Size:
122,251 bases
Orientation:
Minus strand

Previous Assembly
chr8:141,530,255-141,645,732
(GRCh37/hg19 by Entrez Gene)
Size:
115,478 bases
Orientation:
Minus strand

chr8:141,541,264-141,645,718
(GRCh37/hg19 by Ensembl)
Size:
104,455 bases
Orientation:
Minus strand

Genomic View for AGO2 Gene

Genes around AGO2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AGO2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AGO2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for AGO2 Gene

Proteins for AGO2 Gene

Products:

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  3. Assay products for research

  • Protein details for AGO2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UKV8-AGO2_HUMAN
    Recommended name:
    Protein argonaute-2
    Protein Accession:
    Q9UKV8
    Secondary Accessions:
    • Q8TCZ5
    • Q8WV58
    • Q96ID1

    Protein attributes for AGO2 Gene

    Size:
    859 amino acids
    Molecular mass:
    97208 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Interacts with DICER1 through its Piwi domain and with TARBP2 during assembly of the RNA-induced silencing complex (RISC). Together, DICER1, AGO2 and TARBP2 constitute the trimeric RISC loading complex (RLC), or micro-RNA (miRNA) loading complex (miRLC). Within the RLC/miRLC, DICER1 and TARBP2 are required to process precursor miRNAs (pre-miRNAs) to mature miRNAs and then load them onto AGO2. AGO2 bound to the mature miRNA constitutes the minimal RISC and may subsequently dissociate from DICER1 and TARBP2. Note however that the term RISC has also been used to describe the trimeric RLC/miRLC. The formation of RISC complexes containing siRNAs rather than miRNAs appears to occur independently of DICER1. Interacts with AGO1. Also interacts with DDB1, DDX5, DDX6, DDX20, DHX30, DHX36, DDX47, DHX9, ELAVL, FXR1, GEMIN4, HNRNPF, IGF2BP1, ILF3, IMP8, MATR3, PABPC1, PRMT5, P4HA1, P4HB, RBM4, SART3, TNRC6A, TNRC6B, UPF1 and YBX1. Interacts with the P-body components DCP1A and XRN1. Associates with polysomes and messenger ribonucleoproteins (mNRPs). Interacts with RBM4; the interaction is modulated under stress-induced conditions, occurs under both cell proliferation and differentiation conditions and in an RNA- and phosphorylation-independent manner. Interacts with LIMD1, WTIP and AJUBA. Interacts with TRIM71; the interaction increases in presence of RNA (PubMed:23125361). Interacts with APOBEC3G in an RNA-dependent manner. Interacts with APOBEC3A, APOBEC3C, APOBEC3F and APOBEC3H. Interacts with DICER1, TARBP2, EIF6, MOV10 and RPL7A (60S ribosome subunit); they form a large RNA-induced silencing complex (RISC) (PubMed:17507929, PubMed:24726324). Interacts with FMR1 (PubMed:14703574). Interacts with ZFP36 (PubMed:15766526). Found in a complex, composed of AGO2, CHD7 and FAM172A (By similarity). Interacts with RC3H1; the interaction is RNA independent (PubMed:25697406). Interacts with SND1 (PubMed:14508492, PubMed:28546213). Interacts with SYT11 (By similarity). Interacts with CLNK (PubMed:26009488). Interacts with GARRE1 (PubMed:29395067).
    SequenceCaution:
    • Sequence=AAH07633.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAL76093.1; Type=Miscellaneous discrepancy; Note=cDNA contains a duplication of an internal sequence at the 5' end.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for AGO2 Gene

    Alternative splice isoforms for AGO2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AGO2 Gene

Protein Expression for AGO2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for AGO2 Gene

Q9UKV8:
  • NERVGKSGNIPAGTTVDTKITHP
  • QIFGDRKPVFDGRKNLYTAMPLPI
  • GRTIKLQANFFEMDIPKIDIYHYELDIKPEK
  • EFDFYLCSHAGIQGTSRPSHYHVLWDDNRFSSDELQIL
  • QALDVVMRHLPSMRYTPVGRSFFTASEGC
  • MTDVTGRVLQPPSILYGGR
  • KAIATPVQGVWDMRNKQFHTGIEIKVWAIACFAPQRQC
  • CVSLQALHDALSGRLP
  • CEVLDFKSIEEQQKPLTDSQRVKFTKEIKGLKVEITHC
  • NPLGGGREVWFGFHQSVRPSLWKMMLNIDVSATAFYKA

Post-translational modifications for AGO2 Gene

  • Hydroxylated. 4-hydroxylation appears to enhance protein stability but is not required for miRNA-binding or endonuclease activity.
  • Ubiquitination at Lys550
  • Modification sites at PhosphoSitePlus

Other Protein References for AGO2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Protein products for research

Domains & Families for AGO2 Gene

Gene Families for AGO2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for AGO2 Gene

InterPro:
Blocks:
  • Argonaute and Dicer protein, PAZ
  • Stem cell self-renewal protein Piwi
ProtoNet:

Suggested Antigen Peptide Sequences for AGO2 Gene

GenScript: Design optimal peptide antigens:
  • EIF2C2 protein (A4FVC0_HUMAN)
  • Protein slicer (AGO2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UKV8

UniProtKB/Swiss-Prot:

AGO2_HUMAN :
  • The Piwi domain may perform RNA cleavage by a mechanism similar to that of RNase H. However, while RNase H utilizes a triad of Asp-Asp-Glu (DDE) for metal ion coordination, this protein appears to utilize a triad of Asp-Asp-His (DDH).
  • Belongs to the argonaute family. Ago subfamily.
Domain:
  • The Piwi domain may perform RNA cleavage by a mechanism similar to that of RNase H. However, while RNase H utilizes a triad of Asp-Asp-Glu (DDE) for metal ion coordination, this protein appears to utilize a triad of Asp-Asp-His (DDH).
Family:
  • Belongs to the argonaute family. Ago subfamily.
genes like me logo Genes that share domains with AGO2: view

Function for AGO2 Gene

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  6. Cell Lines for research

Molecular function for AGO2 Gene

UniProtKB/Swiss-Prot 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 direct RISC to complementary mRNAs that are targets for RISC-mediated gene silencing. The precise mechanism of gene silencing depends on the degree of complementarity between the miRNA or siRNA and its target. Binding of RISC to a perfectly complementary mRNA generally results in silencing due to endonucleolytic cleavage of the mRNA specifically by AGO2. Binding of RISC to a partially complementary mRNA results in silencing through inhibition of translation, and this is independent of endonuclease activity. May inhibit translation initiation by binding to the 7-methylguanosine cap, thereby preventing the recruitment of the translation initiation factor eIF4-E. May also inhibit translation initiation via interaction with EIF6, which itself binds to the 60S ribosomal subunit and prevents its association with the 40S ribosomal subunit. The inhibition of translational initiation leads to the accumulation of the affected mRNA in cytoplasmic processing bodies (P-bodies), where mRNA degradation may subsequently occur. In some cases RISC-mediated translational repression is also observed for miRNAs that perfectly match the 3' untranslated region (3'-UTR). Can also up-regulate the translation of specific mRNAs under certain growth conditions. Binds to the AU element of the 3'-UTR of the TNF (TNF-alpha) mRNA and up-regulates translation under conditions of serum starvation. Also required for transcriptional gene silencing (TGS), in which short RNAs known as antigene RNAs or agRNAs direct the transcriptional repression of complementary promoter regions.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Endonucleolytic cleavage to 5'-phosphomonoester.; EC=3.1.26.n2; Evidence={ECO:0000255|HAMAP-Rule:MF_03031, ECO:0000269|PubMed:15105377, ECO:0000269|PubMed:23746446};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.1 nM for a synthetic 21-nucleotide single-stranded RNA {ECO:0000269|PubMed:15105377, ECO:0000269|PubMed:15800637};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by EDTA.

Enzyme Numbers (IUBMB) for AGO2 Gene

Phenotypes From GWAS Catalog for AGO2 Gene

Gene Ontology (GO) - Molecular Function for AGO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000340 RNA 7-methylguanosine cap binding IEA,IDA 17524464
GO:0000993 RNA polymerase II complex binding IDA 25336585
GO:0001046 core promoter sequence-specific DNA binding IMP 25336585
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA,HDA 22658674
genes like me logo Genes that share ontologies with AGO2: view
genes like me logo Genes that share phenotypes with AGO2: view

Animal Models for AGO2 Gene

MGI Knock Outs for AGO2:

Animal Models for research

miRNA for AGO2 Gene

miRTarBase miRNAs that target AGO2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AGO2

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AGO2 Gene

Localization for AGO2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AGO2 Gene

Cytoplasm, P-body. Nucleus. Note=Translational repression of mRNAs results in their recruitment to P-bodies. Translocation to the nucleus requires IMP8.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AGO2 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 4
plasma membrane 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytoplasmic bodies (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AGO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000932 P-body IEA,IDA 20616046
GO:0005634 nucleus IEA,IDA 23985560
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA,IDA 15260970
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with AGO2: view

Pathways & Interactions for AGO2 Gene

genes like me logo Genes that share pathways with AGO2: view

Pathways by source for AGO2 Gene

3 Qiagen pathways for AGO2 Gene
  • eIF2 Pathway
  • GSK3 Signaling
  • RNAi Pathway
1 Cell Signaling Technology pathway for AGO2 Gene

SIGNOR curated interactions for AGO2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for AGO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006412 translation NAS 10534406
GO:0006413 translational initiation IEA --
GO:0006417 regulation of translation IEA --
GO:0007223 Wnt signaling pathway, calcium modulating pathway TAS --
genes like me logo Genes that share ontologies with AGO2: view

Drugs & Compounds for AGO2 Gene

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No Compound Related Data Available

Transcripts for AGO2 Gene

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  2. miRNA products for research
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mRNA/cDNA for AGO2 Gene

2 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AGO2

Alternative Splicing Database (ASD) splice patterns (SP) for AGO2 Gene

No ASD Table

Relevant External Links for AGO2 Gene

GeneLoc Exon Structure for
AGO2

Expression for AGO2 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AGO2 Gene

mRNA expression in normal human tissues for AGO2 Gene
mRNA expression by BioGPS for AGO2 GenemRNA expression by GTEx for AGO2 Gene

mRNA differential expression in normal tissues according to GTEx for AGO2 Gene

This gene is overexpressed in Whole Blood (x7.5) and Muscle - Skeletal (x4.3).

Protein differential expression in normal tissues from HIPED for AGO2 Gene

This gene is overexpressed in Bone marrow stromal cell (10.1) and Lymph node (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AGO2 Gene



Protein tissue co-expression partners for AGO2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AGO2

SOURCE GeneReport for Unigene cluster for AGO2 Gene:

Hs.743313

Evidence on tissue expression from TISSUES for AGO2 Gene

  • Nervous system(4.6)
  • Eye(4.5)
  • Kidney(2.9)
  • Heart(2.9)
  • Liver(2.9)
  • Skin(2.8)
  • Intestine(2.7)
  • Blood(2.7)
  • Muscle(2.6)
  • Bone marrow(2.6)
  • Lymph node(2.6)
  • Spleen(2.5)
  • Lung(2.4)
  • Pancreas(2.4)
  • Stomach(2.3)
  • Thyroid gland(2.2)
  • Adrenal gland(2.2)
  • Saliva(2.1)
genes like me logo Genes that share expression patterns with AGO2: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for AGO2 Gene

Orthologs for AGO2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AGO2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia EIF2C2 30 31
  • 99.59 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia AGO2 31
  • 98 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia AGO2 31
  • 98 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia AGO2 30 31
  • 92.58 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia EIF2C2 30 31
  • 92.48 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Ago2 30 17 31
  • 90.78 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Ago2 30
  • 90.14 (n)
Chicken
(Gallus gallus)
 Aves AGO2 31
  • 98 (a)
 OneToOne
LOC100858102 30
  • 81.71 (n)
Lizard
(Anolis carolinensis)
 Reptilia AGO2 31
  • 97 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia ago2 30
  • 79.96 (n)
Str.15011 30
Zebrafish
(Danio rerio)
 Actinopterygii CU929240.1 31
  • 90 (a)
 OneToOne
LOC570630 30
  • 79.94 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP011717 30
  • 68.98 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta AGO1 30
  • 67.5 (n)
Worm
(Caenorhabditis elegans)
 Secernentea alg-1 30
  • 62.53 (n)
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons AGO5 30
  • 49.82 (n)
Soybean
(Glycine max)
 eudicotyledons Gma.5747 30
Species where no ortholog for AGO2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for AGO2 Gene

ENSEMBL:
Gene Tree for AGO2 (if available)
TreeFam:
Gene Tree for AGO2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AGO2: view image

Paralogs for AGO2 Gene

Paralogs for AGO2 Gene

(5) SIMAP similar genes for AGO2 Gene using alignment to 3 proteins:

  • AGO2_HUMAN
  • E5RGG9_HUMAN
  • E5RJY2_HUMAN
genes like me logo Genes that share paralogs with AGO2: view

Variants for AGO2 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AGO2 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
995792 Pathogenic: LESSEL-KREIENKAMP SYNDROME 140,556,243(-) G/A
NM_012154.5(AGO2):c.1070C>T (p.Thr357Met) 		MISSENSE
995793 Pathogenic: LESSEL-KREIENKAMP SYNDROME 140,556,222(-) A/G
NM_012154.5(AGO2):c.1091T>C (p.Met364Thr) 		MISSENSE
995794 Pathogenic: LESSEL-KREIENKAMP SYNDROME 140,535,487(-) C/T
NM_012154.5(AGO2):c.2252G>A (p.Cys751Tyr) 		MISSENSE_VARIANT,INTRON
995795 Pathogenic: LESSEL-KREIENKAMP SYNDROME 140,560,482(-) TGAA/T
NM_012154.5(AGO2):c.541TTC[1] (p.Phe182del) 		INFRAME_DELETION
995796 Pathogenic: LESSEL-KREIENKAMP SYNDROME 140,535,542(-) C/G
NM_012154.5(AGO2):c.2197G>C (p.Gly733Arg) 		MISSENSE_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for AGO2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for AGO2 Gene

Variant ID Type Subtype PubMed ID
esv1712972 CNV deletion 17803354
esv24351 CNV loss 19812545
esv2539959 CNV deletion 19546169
esv2737756 CNV deletion 23290073
esv2737758 CNV deletion 23290073
nsv1016282 CNV gain 25217958
nsv1025478 CNV gain 25217958
nsv1115144 CNV deletion 24896259
nsv1126125 CNV deletion 24896259
nsv1137621 CNV deletion 24896259
nsv1144237 CNV deletion 24896259
nsv465952 CNV loss 19166990
nsv512075 CNV loss 21212237
nsv526444 CNV gain 19592680
nsv612568 CNV gain 21841781
nsv612569 CNV loss 21841781
nsv612570 CNV gain 21841781
nsv6427 CNV insertion 18451855
nsv824748 CNV gain 20364138

Variation tolerance for AGO2 Gene

Residual Variation Intolerance Score: 2.86% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.13; 2.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AGO2 Gene

Human Gene Mutation Database (HGMD)
AGO2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AGO2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AGO2 Gene

Disorders for AGO2 Gene

MalaCards: The human disease database

(13) MalaCards diseases for AGO2 Gene - From: LNC, OMI, CVR, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search AGO2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AGO2

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with AGO2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AGO2 Gene

Publications for AGO2 Gene

  1. In vitro reconstitution of the human RISC-loading complex. (PMID: 18178619) MacRae IJ … Doudna JA (Proceedings of the National Academy of Sciences of the United States of America 2008) 3 4 23
  2. Translation repression in human cells by microRNA-induced gene silencing requires RCK/p54. (PMID: 16756390) Chu CY … Rana TM (PLoS biology 2006) 3 4 23
  3. A human, ATP-independent, RISC assembly machine fueled by pre-miRNA. (PMID: 16357216) Maniataki E … Mourelatos Z (Genes & development 2005) 3 4 23
  4. Characterization of the interactions between mammalian PAZ PIWI domain proteins and Dicer. (PMID: 14749716) Tahbaz N … Hobman TC (EMBO reports 2004) 3 4 23
  5. Human eukaryotic initiation factor EIF2C1 gene: cDNA sequence, genomic organization, localization to chromosomal bands 1p34-p35, and expression. (PMID: 10534406) Koesters R … Briner J (Genomics 1999) 2 3 4

ExternalLinks

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Products for AGO2 Gene

  • Addgene plasmids for AGO2

Sources for AGO2 Gene