AutismKB 2.0

Annotation Details for EIF2C1


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Basic Information Top
Gene Symbol:EIF2C1 ( AGO1,DKFZp686M13167,EIF2C,GERP95,Q99 )
Gene Full Name: eukaryotic translation initiation factor 2C, 1
Band: 1p34.3
Quick LinksEntrez ID:26523; OMIM: 606228; Uniprot ID:AGO1_HUMAN; ENSEMBL ID: ENSG00000092847; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000932IEA-P-body-
GO:0005634IC-nucleus25336585
GO:0005654TAS-nucleoplasm-
GO:0005737IDA-cytoplasm15260970
GO:0005829TAS-cytosol-
GO:0005844IDA-polysome17932509
GO:0016442IDA-RISC complex15260970
GO:0030529IDA-intracellular ribonucleoprotein complex17932509
GO:0035068IDA-micro-ribonucleoprotein complex17932509
GO:0070578IDA-RISC-loading complex19966796
GO ID Evidence Qualifier GO_term References
GO:0000978IEA-RNA polymerase II core promoter proximal region sequence-specific DNA binding-
GO:0000993IDA-RNA polymerase II core binding25336585
GO:0001047IMP-core promoter binding25336585
GO:0003723IDA-RNA binding22681889
GO:0003725IDA-double-stranded RNA binding19966796
GO:0003727IDA-single-stranded RNA binding19966796
GO:0004521IDANOTendoribonuclease activity23809764
GO:0005515IPI-protein binding12526743
GO:0035198IDA-miRNA binding15260970
GO ID Evidence Qualifier GO_term References
GO:0000956IDA-nuclear-transcribed mRNA catabolic process18771919
GO:0006351IEA-transcription, DNA-templated-
GO:0007223TAS-Wnt signaling pathway, calcium modulating pathway-
GO:0010501IDA-RNA secondary structure unwinding19966796
GO:0010501IMP-RNA secondary structure unwinding22795694
GO:0010586IEA-miRNA metabolic process-
GO:0031054IDA-pre-miRNA processing19966796
GO:0035194TAS-posttranscriptional gene silencing by RNA-
GO:0035196IMP-production of miRNAs involved in gene silencing by miRNA22795694
GO:0035278IDA-miRNA mediated inhibition of translation18771919
GO:0035279IDANOTmRNA cleavage involved in gene silencing by miRNA15260970
GO:0035280IDA-miRNA loading onto RISC involved in gene silencing by miRNA19966796
GO:0045944IMP-positive regulation of transcription from RNA polymerase II promoter25336585
GO:0048015TAS-phosphatidylinositol-mediated signaling-
GO:0060964TAS-regulation of gene silencing by miRNA-
GO:0090625IDANOTmRNA cleavage involved in gene silencing by siRNA15260970
GO:1901224IEA-positive regulation of NIK/NF-kappaB signaling-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
EIF2C1POLR2A11142616936726 Affinity Capture-Western
EIF2C1POLR2A11772616936726 Affinity Capture-Western
EIF2C1TP5311301020308539 Affinity Capture-Western
EIF2C1TP5311772620308539 Affinity Capture-Western
EIF2C1TP7311301420308539 Affinity Capture-Western
EIF2C1TP7311772620308539 Affinity Capture-Western
EIF2C1TP6311772620308539 Affinity Capture-Western
EIF2C1TP6311418120308539 Affinity Capture-Western
EIF2C1TNRC6B11673517891150 Reconstituted Complex
EIF2C1TNRC6B11772617891150 Reconstituted Complex
EIF2C1DICER111697812906857 Affinity Capture-Western
EIF2C1DICER111772612906857 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2446630
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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