AGO2 (argonaute RISC catalytic component 2) - Rat Genome Database

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Gene: AGO2 (argonaute RISC catalytic component 2) Homo sapiens
Analyze
Symbol: AGO2
Name: argonaute RISC catalytic component 2
RGD ID: 732767
HGNC Page HGNC
Description: Exhibits several functions, including endoribonuclease activity, producing 5'-phosphomonoesters; nucleic acid binding activity; and protein C-terminus binding activity. Involved in several processes, including RNA secondary structure unwinding; positive regulation of trophoblast cell migration; and posttranscriptional regulation of gene expression. Localizes to several cellular components, including RISC complex; RISC-loading complex; and mRNA cap binding activity complex.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: argonaute 2; argonaute 2, RISC catalytic component; argonaute2; cancer susceptibility candidate 7; cancer susceptibility candidate 7 (non-protein coding); CASC7; CTA-204B4.6; eIF-2C 2; eIF2C 2; EIF2C2; eukaryotic translation initiation factor 2C, 2; hAgo2; LESKRES; LINC00980; long intergenic non-protein coding RNA 980; MGC3183; PAZ Piwi domain protein; PPD; protein argonaute-2; protein slicer; Q10
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8140,520,156 - 140,635,633 (-)EnsemblGRCh38hg38GRCh38
GRCh388140,520,156 - 140,642,406 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378141,530,255 - 141,645,732 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368141,610,446 - 141,714,827 (-)NCBINCBI36hg18NCBI36
Build 348141,610,446 - 141,714,827NCBI
Celera8137,710,380 - 137,814,765 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8136,853,198 - 136,907,219 (-)NCBIHuRef
CHM1_18141,581,910 - 141,685,882 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-anisomycin  (EXP)
(-)-demecolcine  (EXP)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
2-methylcholine  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxynon-2-enal  (ISO)
5-chloro-7-iodoquinolin-8-ol  (EXP)
7,12-dimethyltetraphene  (ISO)
acrolein  (EXP)
alachlor  (ISO)
all-trans-retinoic acid  (ISO)
alpha-pinene  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
butyric acid  (ISO)
calcitriol  (EXP)
calcium atom  (ISO)
calcium(0)  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
cerium trichloride  (ISO)
chloroprene  (ISO)
chrysene  (ISO)
cisplatin  (EXP)
cocaine  (ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
diazinon  (EXP)
dibutyl phthalate  (ISO)
diclofenac  (EXP)
dicrotophos  (EXP)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
excitatory amino acid agonist  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
glucaric acid  (ISO)
indometacin  (EXP)
L-ascorbic acid  (ISO)
mercury dichloride  (ISO)
methapyrilene  (EXP)
methylmercury chloride  (EXP)
nickel atom  (EXP)
nicotinamide  (ISO)
ozone  (EXP)
paracetamol  (EXP,ISO)
phenobarbital  (EXP,ISO)
quercetin  (EXP)
rac-lactic acid  (EXP)
raloxifene  (EXP)
rotenone  (ISO)
SB 203580  (EXP)
SB 431542  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenate  (EXP)
sodium arsenite  (EXP)
tamoxifen  (EXP)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
tetraphene  (ISO)
titanium dioxide  (ISO)
troglitazone  (ISO)
tungsten  (ISO)
valproic acid  (EXP,ISO)
venlafaxine hydrochloride  (ISO)
vinclozolin  (ISO)
vorinostat  (EXP)
zinc atom  (EXP)
zinc dichloride  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
gene silencing by RNA  (IEA,ISS)
intracellular receptor signaling pathway  (TAS)
miRNA loading onto RISC involved in gene silencing by miRNA  (IDA)
miRNA mediated inhibition of translation  (IDA,IMP)
miRNA metabolic process  (ISO,TAS)
mRNA cleavage involved in gene silencing by miRNA  (IDA,IMP)
mRNA cleavage involved in gene silencing by siRNA  (IDA,IMP)
negative regulation of amyloid precursor protein biosynthetic process  (ISS)
negative regulation of gene expression  (TAS)
negative regulation of translational initiation  (IDA)
positive regulation of angiogenesis  (IDA)
positive regulation of gene expression  (ISO,TAS)
positive regulation of miRNA mediated inhibition of translation  (IDA)
positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay  (ISS)
positive regulation of nuclear-transcribed mRNA poly(A) tail shortening  (ISS)
positive regulation of transcription by RNA polymerase II  (IMP)
positive regulation of translation, ncRNA-mediated  (IGI)
positive regulation of trophoblast cell migration  (IMP)
post-embryonic development  (IEA,ISO)
post-transcriptional gene silencing by RNA  (TAS)
pre-miRNA processing  (IDA)
production of miRNAs involved in gene silencing by miRNA  (IDA,ISO)
production of siRNA involved in RNA interference  (TAS)
regulation of gene silencing by miRNA  (TAS)
RNA phosphodiester bond hydrolysis, endonucleolytic  (IEA)
RNA secondary structure unwinding  (IDA,IMP)
siRNA loading onto RISC involved in RNA interference  (IC,IDA)
translation  (NAS)
translational initiation  (IEA)
Wnt signaling pathway, calcium modulating pathway  (TAS)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:10534406   PMID:11914277   PMID:12230974   PMID:12414724   PMID:12477932   PMID:12526743   PMID:12906857   PMID:14702039   PMID:14749716   PMID:14970384   PMID:15260970   PMID:15284456  
PMID:15489334   PMID:15766526   PMID:15800637   PMID:15908945   PMID:15937477   PMID:15973356   PMID:16196087   PMID:16271386   PMID:16289642   PMID:16301602   PMID:16357216   PMID:16424907  
PMID:16611939   PMID:16699599   PMID:16756390   PMID:16936728   PMID:17116888   PMID:17267406   PMID:17382880   PMID:17400507   PMID:17495927   PMID:17507929   PMID:17524464   PMID:17531811  
PMID:17671087   PMID:17881374   PMID:17891150   PMID:17932509   PMID:17938239   PMID:18178619   PMID:18222171   PMID:18476811   PMID:18591665   PMID:18669659   PMID:18690212   PMID:18771919  
PMID:18787018   PMID:18946079   PMID:18981691   PMID:19047128   PMID:19061863   PMID:19064005   PMID:19138993   PMID:19159466   PMID:19167051   PMID:19322201   PMID:19324964   PMID:19380743  
PMID:19383768   PMID:19393748   PMID:19458189   PMID:19470757   PMID:19508234   PMID:19536157   PMID:19560422   PMID:19625255   PMID:19647520   PMID:19701182   PMID:19716330   PMID:19723326  
PMID:19784364   PMID:19801630   PMID:19820710   PMID:19826008   PMID:19838187   PMID:19851984   PMID:19946268   PMID:19946888   PMID:19955415   PMID:19966796   PMID:20014101   PMID:20020773  
PMID:20146808   PMID:20197313   PMID:20198652   PMID:20211803   PMID:20237157   PMID:20308539   PMID:20385818   PMID:20395958   PMID:20402672   PMID:20505670   PMID:20616046   PMID:20671708  
PMID:20696395   PMID:20699384   PMID:20721975   PMID:20924207   PMID:21071408   PMID:21081503   PMID:21145461   PMID:21148147   PMID:21177824   PMID:21241449   PMID:21383194   PMID:21423624  
PMID:21525958   PMID:21535412   PMID:21552258   PMID:21562054   PMID:21634124   PMID:21769619   PMID:21840310   PMID:21846468   PMID:21858095   PMID:21868483   PMID:21903422   PMID:21948796  
PMID:21951848   PMID:21964070   PMID:21969601   PMID:21981923   PMID:21988832   PMID:22014067   PMID:22025453   PMID:22055194   PMID:22163034   PMID:22215596   PMID:22233755   PMID:22366686  
PMID:22394132   PMID:22474261   PMID:22484317   PMID:22539551   PMID:22647351   PMID:22658674   PMID:22681889   PMID:22682761   PMID:22791714   PMID:22795694   PMID:22851315   PMID:22858679  
PMID:22915799   PMID:22961379   PMID:23019594   PMID:23077538   PMID:23085987   PMID:23090477   PMID:23091627   PMID:23125361   PMID:23143396   PMID:23201202   PMID:23245472   PMID:23258480  
PMID:23289589   PMID:23361462   PMID:23400010   PMID:23409027   PMID:23411422   PMID:23443559   PMID:23512276   PMID:23535175   PMID:23603119   PMID:23622242   PMID:23636329   PMID:23661684  
PMID:23664376   PMID:23665583   PMID:23696368   PMID:23696926   PMID:23741051   PMID:23748378   PMID:23775134   PMID:23824327   PMID:23877830   PMID:23901138   PMID:23926332   PMID:23985560  
PMID:24023945   PMID:24043833   PMID:24086155   PMID:24141778   PMID:24209750   PMID:24263100   PMID:24326307   PMID:24361012   PMID:24457600   PMID:24550003   PMID:24574065   PMID:24602972  
PMID:24662483   PMID:24726324   PMID:24727796   PMID:24778252   PMID:24788663   PMID:24805183   PMID:24862572   PMID:24886719   PMID:24935600   PMID:24938790   PMID:24981741   PMID:25036361  
PMID:25036637   PMID:25072345   PMID:25135428   PMID:25175024   PMID:25336585   PMID:25359968   PMID:25446899   PMID:25464849   PMID:25544563   PMID:25605800   PMID:25673011   PMID:25680411  
PMID:25681748   PMID:25693804   PMID:25697406   PMID:25826416   PMID:25918241   PMID:25921289   PMID:25937637   PMID:25970378   PMID:26009488   PMID:26140593   PMID:26188282   PMID:26188511  
PMID:26217791   PMID:26227789   PMID:26242502   PMID:26253535   PMID:26304123   PMID:26318153   PMID:26359634   PMID:26367773   PMID:26443379   PMID:26451954   PMID:26475020   PMID:26496610  
PMID:26507454   PMID:26518874   PMID:26545861   PMID:26592935   PMID:26699195   PMID:26701625   PMID:26777405   PMID:26809675   PMID:26822153   PMID:26831064   PMID:26854235   PMID:26902284  
PMID:27025967   PMID:27117408   PMID:27142104   PMID:27157137   PMID:27208409   PMID:27288410   PMID:27418678   PMID:27478153   PMID:27486976   PMID:27518285   PMID:27542412   PMID:27545878  
PMID:27684187   PMID:27721445   PMID:27880917   PMID:27924485   PMID:27924486   PMID:27924487   PMID:27924488   PMID:27924489   PMID:28008821   PMID:28075055   PMID:28082397   PMID:28114302  
PMID:28159509   PMID:28190767   PMID:28219405   PMID:28334781   PMID:28388001   PMID:28472401   PMID:28546213   PMID:28559278   PMID:28611215   PMID:28624440   PMID:28645918   PMID:28683311  
PMID:28718761   PMID:28813667   PMID:28831191   PMID:28839112   PMID:28850112   PMID:28877994   PMID:28954383   PMID:28973861   PMID:29017520   PMID:29028450   PMID:29031931   PMID:29074849  
PMID:29117863   PMID:29120412   PMID:29256262   PMID:29395067   PMID:29444957   PMID:29467282   PMID:29507755   PMID:29509190   PMID:29568061   PMID:29573145   PMID:29748555   PMID:29807108  
PMID:29955039   PMID:30089251   PMID:30185552   PMID:30209976   PMID:30239883   PMID:30305728   PMID:30306823   PMID:30333515   PMID:30341421   PMID:30470799   PMID:30476917   PMID:30567739  
PMID:30575818   PMID:30621629   PMID:30622242   PMID:30629181   PMID:30661904   PMID:30941417   PMID:30995489   PMID:30997501   PMID:31012336   PMID:31091453   PMID:31103853   PMID:31112282  
PMID:31233752   PMID:31268608   PMID:31324173   PMID:31391242   PMID:31424151   PMID:31462741   PMID:31507089   PMID:31527801   PMID:31551491   PMID:31586073   PMID:31594754   PMID:31640799  
PMID:31655860   PMID:31666609   PMID:31724726   PMID:31732153   PMID:31753913   PMID:31868085   PMID:31941754   PMID:31957155   PMID:32051553   PMID:32159247   PMID:32164444   PMID:32191872  
PMID:32420319   PMID:32457219   PMID:32488030   PMID:32499547   PMID:32659369   PMID:32661421   PMID:32694731   PMID:32696070   PMID:32717920   PMID:32778571   PMID:32800344   PMID:32814053  
PMID:32929008   PMID:33122430   PMID:33144569   PMID:33199684  


Genomics

Comparative Map Data
AGO2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8140,520,156 - 140,635,633 (-)EnsemblGRCh38hg38GRCh38
GRCh388140,520,156 - 140,642,406 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378141,530,255 - 141,645,732 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368141,610,446 - 141,714,827 (-)NCBINCBI36hg18NCBI36
Build 348141,610,446 - 141,714,827NCBI
Celera8137,710,380 - 137,814,765 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8136,853,198 - 136,907,219 (-)NCBIHuRef
CHM1_18141,581,910 - 141,685,882 (-)NCBICHM1_1
Ago2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391572,973,474 - 73,056,796 (-)NCBIGRCm39mm39
GRCm39 Ensembl1572,967,693 - 73,056,784 (-)Ensembl
GRCm381573,101,625 - 73,184,947 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1573,095,844 - 73,184,935 (-)EnsemblGRCm38mm10GRCm38
MGSCv371572,932,055 - 73,015,377 (-)NCBIGRCm37mm9NCBIm37
MGSCv361572,934,117 - 73,012,065 (-)NCBImm8
Celera1574,601,857 - 74,646,651 (-)NCBICelera
Cytogenetic Map15D3NCBI
Ago2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27105,018,202 - 105,105,120 (-)NCBI
Rnor_6.0 Ensembl7114,339,434 - 114,380,613 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07114,339,607 - 114,377,277 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07114,274,582 - 114,312,135 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47110,827,857 - 110,865,589 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17110,862,086 - 110,899,819 (-)NCBI
Celera7101,439,261 - 101,476,737 (-)NCBICelera
Cytogenetic Map7q34NCBI
Ago2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546114,205,748 - 14,253,861 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495546114,194,268 - 14,260,949 (-)NCBIChiLan1.0ChiLan1.0
AGO2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18140,278,610 - 140,361,124 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8140,287,647 - 140,361,125 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08137,192,037 - 137,308,059 (-)NCBIMhudiblu_PPA_v0panPan3
AGO2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11335,169,243 - 35,230,252 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1335,180,912 - 35,268,577 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1335,028,442 - 35,140,440 (-)NCBI
ROS_Cfam_1.01335,564,998 - 35,666,115 (-)NCBI
UMICH_Zoey_3.11335,274,354 - 35,386,196 (-)NCBI
UNSW_CanFamBas_1.01335,364,327 - 35,476,164 (-)NCBI
UU_Cfam_GSD_1.01335,795,131 - 35,895,912 (-)NCBI
Ago2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053033,202,184 - 3,264,488 (+)NCBI
SpeTri2.0NW_00493647010,641,109 - 10,690,587 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AGO2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl42,919,529 - 3,015,367 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.142,966,794 - 3,012,388 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.242,362,700 - 2,405,419 (+)NCBISscrofa10.2Sscrofa10.2susScr3
AGO2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18134,761,651 - 134,855,971 (-)NCBI
ChlSab1.1 Ensembl8134,767,182 - 134,823,070 (-)Ensembl
Ago2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473515,785,831 - 15,853,854 (+)NCBI

Position Markers
D8S1717  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378141,562,719 - 141,562,901UniSTSGRCh37
Build 368141,631,901 - 141,632,083RGDNCBI36
Celera8137,731,833 - 137,732,015RGD
Cytogenetic Map8q24UniSTS
HuRef8136,874,670 - 136,874,850UniSTS
Marshfield Genetic Map8164.25RGD
Marshfield Genetic Map8164.25UniSTS
Genethon Genetic Map8162.8UniSTS
TNG Radiation Hybrid Map869114.0UniSTS
D8S1635  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378141,641,746 - 141,641,946UniSTSGRCh37
Build 368141,710,928 - 141,711,128RGDNCBI36
Celera8137,810,865 - 137,811,065RGD
Cytogenetic Map8q24UniSTS
HuRef8136,953,156 - 136,953,356UniSTS
Whitehead-RH Map8705.3UniSTS
Whitehead-YAC Contig Map8 UniSTS
NCBI RH Map81597.8UniSTS
WI-11623  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378141,541,454 - 141,541,555UniSTSGRCh37
Build 368141,610,636 - 141,610,737RGDNCBI36
Celera8137,710,570 - 137,710,671RGD
Cytogenetic Map8q24UniSTS
HuRef8136,853,388 - 136,853,489UniSTS
GeneMap99-GB4 RH Map8541.6UniSTS
Whitehead-RH Map8705.4UniSTS
RH45183  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378141,541,874 - 141,542,078UniSTSGRCh37
Build 368141,611,056 - 141,611,260RGDNCBI36
Celera8137,710,990 - 137,711,194RGD
Cytogenetic Map8q24UniSTS
HuRef8136,853,808 - 136,854,012UniSTS
RH103829  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378141,589,875 - 141,590,039UniSTSGRCh37
Build 368141,659,057 - 141,659,221RGDNCBI36
Celera8137,758,994 - 137,759,158RGD
Cytogenetic Map8q24UniSTS
HuRef8136,901,803 - 136,901,967UniSTS
GeneMap99-GB4 RH Map8540.51UniSTS
SHGC-146257  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378141,635,579 - 141,635,876UniSTSGRCh37
Build 368141,704,761 - 141,705,058RGDNCBI36
Celera8137,804,699 - 137,804,996RGD
Cytogenetic Map8q24UniSTS
HuRef8136,946,990 - 136,947,287UniSTS
TNG Radiation Hybrid Map869061.0UniSTS
SHGC-154248  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378141,635,588 - 141,635,889UniSTSGRCh37
Build 368141,704,770 - 141,705,071RGDNCBI36
Celera8137,804,708 - 137,805,009RGD
Cytogenetic Map8q24UniSTS
HuRef8136,946,999 - 136,947,300UniSTS
TNG Radiation Hybrid Map869067.0UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR99Ahsa-miR-99a-5pMirtarbaseexternal_infoSequencingFunctional MTI (Weak)20371350

Predicted Target Of
Summary Value
Count of predictions:3333
Count of miRNA genes:1158
Interacting mature miRNAs:1464
Transcripts:ENST00000220592, ENST00000517293, ENST00000518019, ENST00000519347, ENST00000519980, ENST00000520412, ENST00000520628, ENST00000521325, ENST00000523609, ENST00000524328
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1737 1587 887 67 1097 48 3363 1438 1472 99 892 1367 37 1 789 2222 6 1
Low 702 1404 838 557 853 417 994 759 2262 318 568 245 138 415 566 1
Below cutoff 1 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001164623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA909234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC067931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC107375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF121255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI468419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL050151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY077717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC054491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC125213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC125214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS300529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000220592   ⟹   ENSP00000220592
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8140,520,156 - 140,635,633 (-)Ensembl
RefSeq Acc Id: ENST00000517293
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8140,572,558 - 140,635,546 (-)Ensembl
RefSeq Acc Id: ENST00000518019
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8140,626,485 - 140,635,546 (-)Ensembl
RefSeq Acc Id: ENST00000519347
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8140,535,391 - 140,539,449 (-)Ensembl
RefSeq Acc Id: ENST00000519980   ⟹   ENSP00000430176
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8140,531,421 - 140,635,546 (-)Ensembl
RefSeq Acc Id: ENST00000520412
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8140,532,533 - 140,541,457 (-)Ensembl
RefSeq Acc Id: ENST00000520628
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8140,532,094 - 140,532,706 (-)Ensembl
RefSeq Acc Id: ENST00000521325
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8140,555,408 - 140,556,238 (-)Ensembl
RefSeq Acc Id: ENST00000523609   ⟹   ENSP00000430164
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8140,531,421 - 140,635,546 (-)Ensembl
RefSeq Acc Id: ENST00000524328   ⟹   ENSP00000431056
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8140,572,902 - 140,605,888 (-)Ensembl
RefSeq Acc Id: NM_001164623   ⟹   NP_001158095
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388140,520,156 - 140,635,633 (-)NCBI
GRCh378141,541,264 - 141,645,646 (-)ENTREZGENE
HuRef8136,853,198 - 136,907,219 (-)ENTREZGENE
CHM1_18141,581,910 - 141,685,882 (-)NCBI
Sequence:
RefSeq Acc Id: NM_012154   ⟹   NP_036286
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388140,520,156 - 140,635,633 (-)NCBI
GRCh378141,541,264 - 141,645,646 (-)ENTREZGENE
Build 368141,610,446 - 141,714,827 (-)NCBI Archive
HuRef8136,853,198 - 136,907,219 (-)ENTREZGENE
CHM1_18141,581,910 - 141,685,882 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516965   ⟹   XP_011515267
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388140,520,158 - 140,599,814 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516966   ⟹   XP_011515268
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388140,520,158 - 140,606,677 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516968   ⟹   XP_011515270
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388140,520,158 - 140,642,406 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013317   ⟹   XP_016868806
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388140,520,158 - 140,635,541 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001158095   ⟸   NM_001164623
- Peptide Label: isoform 2
- UniProtKB: Q9UKV8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_036286   ⟸   NM_012154
- Peptide Label: isoform 1
- UniProtKB: Q9UKV8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515270   ⟸   XM_011516968
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011515268   ⟸   XM_011516966
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011515267   ⟸   XM_011516965
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016868806   ⟸   XM_017013317
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000430176   ⟸   ENST00000519980
RefSeq Acc Id: ENSP00000430164   ⟸   ENST00000523609
RefSeq Acc Id: ENSP00000220592   ⟸   ENST00000220592
RefSeq Acc Id: ENSP00000431056   ⟸   ENST00000524328
Protein Domains
PAZ   Piwi

Promoters
RGD ID:7214261
Promoter ID:EPDNEW_H12876
Type:initiation region
Name:AGO2_1
Description:argonaute 2, RISC catalytic component
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12877  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388140,635,633 - 140,635,693EPDNEW
RGD ID:7214263
Promoter ID:EPDNEW_H12877
Type:initiation region
Name:AGO2_2
Description:argonaute 2, RISC catalytic component
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12876  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388140,646,742 - 140,646,802EPDNEW
RGD ID:6806622
Promoter ID:HG_KWN:62188
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001164623,   NM_012154,   UC010MEN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368141,714,921 - 141,715,642 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:140060745-140721324)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052820]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052820]|See cases [RCV000052820] Chr8:140060745..140721324 [GRCh38]
Chr8:141070843..141731423 [GRCh37]
Chr8:141140025..141800605 [NCBI36]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_001164623.1(AGO2):c.1368C>T (p.Phe456=) single nucleotide variant Malignant melanoma [RCV000068179] Chr8:140551338 [GRCh38]
Chr8:141561437 [GRCh37]
Chr8:141630619 [NCBI36]
Chr8:8q24.3
not provided
GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3 copy number gain See cases [RCV000133621] Chr8:130115518..141228210 [GRCh38]
Chr8:131127764..142238309 [GRCh37]
Chr8:131196946..142307491 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139864393-141031612)x3 copy number gain See cases [RCV000134143] Chr8:139864393..141031612 [GRCh38]
Chr8:140876636..142041711 [GRCh37]
Chr8:140945818..142110893 [NCBI36]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
NC_000008.11:g.140526613C>T single nucleotide variant Lung cancer [RCV000107202] Chr8:140526613 [GRCh38]
Chr8:141536712 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:141447774-141542712)x3 copy number gain See cases [RCV000447662] Chr8:141447774..141542712 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:141621038-141690979)x3 copy number gain not provided [RCV000747889] Chr8:141621038..141690979 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:141644176-141646299)x1 copy number loss not provided [RCV000747890] Chr8:141644176..141646299 [GRCh37]
Chr8:8q24.3
benign
NM_012154.5(AGO2):c.1403+9C>G single nucleotide variant not provided [RCV000947139] Chr8:140551294 [GRCh38]
Chr8:141561393 [GRCh37]
Chr8:8q24.3
benign
NM_012154.5(AGO2):c.2169+7T>C single nucleotide variant not provided [RCV000968135] Chr8:140539313 [GRCh38]
Chr8:141549412 [GRCh37]
Chr8:8q24.3
benign
NM_012154.5(AGO2):c.1269+4C>T single nucleotide variant not provided [RCV000880543] Chr8:140555892 [GRCh38]
Chr8:141565991 [GRCh37]
Chr8:8q24.3
likely benign
NM_012154.5(AGO2):c.1533G>A (p.Thr511=) single nucleotide variant not provided [RCV000968137] Chr8:140549169 [GRCh38]
Chr8:141559268 [GRCh37]
Chr8:8q24.3
benign
NM_012154.5(AGO2):c.1707C>G (p.Val569=) single nucleotide variant not provided [RCV000968136] Chr8:140547509 [GRCh38]
Chr8:141557608 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1 copy number loss not provided [RCV001006144] Chr8:126892814..143750028 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
NM_012154.5(AGO2):c.1589-4T>G single nucleotide variant not provided [RCV000938894] Chr8:140547631 [GRCh38]
Chr8:141557730 [GRCh37]
Chr8:8q24.3
benign
Single allele duplication not provided [RCV000844900] Chr8:141081122..141623752 [GRCh37]
Chr8:8q24.3
not provided
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:141431936-141542147)x3 copy number gain not provided [RCV000846800] Chr8:141431936..141542147 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:141081122-141623752)x3 copy number gain not provided [RCV000846830] Chr8:141081122..141623752 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:141617375-141747946)x3 copy number gain not provided [RCV000845698] Chr8:141617375..141747946 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_012154.5(AGO2):c.276C>G (p.Pro92=) single nucleotide variant not provided [RCV000917249] Chr8:140572872 [GRCh38]
Chr8:141582971 [GRCh37]
Chr8:8q24.3
likely benign
NM_012154.5(AGO2):c.615C>A (p.Ser205=) single nucleotide variant not provided [RCV000886958] Chr8:140560414 [GRCh38]
Chr8:141570513 [GRCh37]
Chr8:8q24.3
benign
NM_012154.5(AGO2):c.1929C>T (p.Ala643=) single nucleotide variant not provided [RCV000880416] Chr8:140541269 [GRCh38]
Chr8:141551368 [GRCh37]
Chr8:8q24.3
benign
NM_012154.5(AGO2):c.336+8C>T single nucleotide variant not provided [RCV000933440] Chr8:140572804 [GRCh38]
Chr8:141582903 [GRCh37]
Chr8:8q24.3
likely benign
NM_012154.5(AGO2):c.1809C>T (p.Ala603=) single nucleotide variant not provided [RCV000899096] Chr8:140544243 [GRCh38]
Chr8:141554342 [GRCh37]
Chr8:8q24.3
benign
NM_012154.5(AGO2):c.1749-4G>A single nucleotide variant not provided [RCV000889322] Chr8:140544307 [GRCh38]
Chr8:141554406 [GRCh37]
Chr8:8q24.3
likely benign
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
NM_012154.5(AGO2):c.575T>C (p.Leu192Pro) single nucleotide variant LESSEL-KREIENKAMP SYNDROME [RCV001289983] Chr8:140560454 [GRCh38]
Chr8:141570553 [GRCh37]
Chr8:8q24.3
pathogenic
NM_012154.5(AGO2):c.1070C>T (p.Thr357Met) single nucleotide variant LESSEL-KREIENKAMP SYNDROME [RCV001289984] Chr8:140556243 [GRCh38]
Chr8:141566342 [GRCh37]
Chr8:8q24.3
pathogenic
NM_012154.5(AGO2):c.541TTC[1] (p.Phe182del) microsatellite LESSEL-KREIENKAMP SYNDROME [RCV001289987] Chr8:140560483..140560485 [GRCh38]
Chr8:141570582..141570584 [GRCh37]
Chr8:8q24.3
pathogenic
NM_012154.5(AGO2):c.2252G>A (p.Cys751Tyr) single nucleotide variant LESSEL-KREIENKAMP SYNDROME [RCV001289986] Chr8:140535487 [GRCh38]
Chr8:141545586 [GRCh37]
Chr8:8q24.3
pathogenic
NM_012154.5(AGO2):c.1091T>C (p.Met364Thr) single nucleotide variant LESSEL-KREIENKAMP SYNDROME [RCV001289985] Chr8:140556222 [GRCh38]
Chr8:141566321 [GRCh37]
Chr8:8q24.3
pathogenic
NM_012154.5(AGO2):c.2197G>C (p.Gly733Arg) single nucleotide variant LESSEL-KREIENKAMP SYNDROME [RCV001289988] Chr8:140535542 [GRCh38]
Chr8:141545641 [GRCh37]
Chr8:8q24.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3263 AgrOrtholog
COSMIC AGO2 COSMIC
Ensembl Genes ENSG00000123908 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000220592 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000430164 UniProtKB/TrEMBL
  ENSP00000430176 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000431056 UniProtKB/TrEMBL
Ensembl Transcript ENST00000220592 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000519980 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000523609 UniProtKB/TrEMBL
  ENST00000524328 UniProtKB/TrEMBL
Gene3D-CATH 3.30.420.10 UniProtKB/Swiss-Prot
GTEx ENSG00000123908 GTEx
HGNC ID HGNC:3263 ENTREZGENE
Human Proteome Map AGO2 Human Proteome Map
InterPro AGO2 UniProtKB/Swiss-Prot
  ArgoL1 UniProtKB/Swiss-Prot
  ArgoL2 UniProtKB/Swiss-Prot
  Argonaute_Mid_dom UniProtKB/Swiss-Prot
  Argonaute_N UniProtKB/Swiss-Prot
  PAZ_dom UniProtKB/Swiss-Prot
  PAZ_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Piwi UniProtKB/Swiss-Prot
  RNaseH-like_sf UniProtKB/Swiss-Prot
  RNaseH_sf UniProtKB/Swiss-Prot
KEGG Report hsa:27161 UniProtKB/Swiss-Prot
NCBI Gene 27161 ENTREZGENE
OMIM 606229 OMIM
  619149 OMIM
Pfam ArgoL1 UniProtKB/Swiss-Prot
  ArgoL2 UniProtKB/Swiss-Prot
  ArgoMid UniProtKB/Swiss-Prot
  ArgoN UniProtKB/Swiss-Prot
  PAZ UniProtKB/Swiss-Prot
  Piwi UniProtKB/Swiss-Prot
PharmGKB PA27694 PharmGKB
PROSITE PAZ UniProtKB/Swiss-Prot
  PIWI UniProtKB/Swiss-Prot
SMART DUF1785 UniProtKB/Swiss-Prot
  PAZ UniProtKB/Swiss-Prot
  Piwi UniProtKB/Swiss-Prot
Superfamily-SCOP SSF101690 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF53098 UniProtKB/Swiss-Prot
UniProt AGO2_HUMAN UniProtKB/Swiss-Prot
  E5RGG9_HUMAN UniProtKB/TrEMBL
  E5RJY2_HUMAN UniProtKB/TrEMBL
  Q9UKV8 ENTREZGENE
UniProt Secondary Q8TCZ5 UniProtKB/Swiss-Prot
  Q8WV58 UniProtKB/Swiss-Prot
  Q96ID1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-11-29 AGO2  argonaute RISC catalytic component 2    argonaute 2, RISC catalytic component  Symbol and/or name change 5135510 APPROVED
2017-11-21 AGO2  argonaute 2, RISC catalytic component  CASC7  cancer susceptibility candidate 7 (non-protein coding)  Data Merged 737654 PROVISIONAL
2015-12-01 AGO2  argonaute 2, RISC catalytic component    argonaute RISC catalytic component 2  Symbol and/or name change 5135510 APPROVED
2013-02-20 AGO2  argonaute RISC catalytic component 2  EIF2C2  eukaryotic translation initiation factor 2C, 2  Symbol and/or name change 5135510 APPROVED
2011-08-16 EIF2C2  eukaryotic translation initiation factor 2C, 2  EIF2C2  eukaryotic translation initiation factor 2C, 2  Symbol and/or name change 5135510 APPROVED
2011-07-27 EIF2C2  eukaryotic translation initiation factor 2C, 2  EIF2C2  eukaryotic translation initiation factor 2C, 2  Symbol and/or name change 5135510 APPROVED