AutismKB 2.0

Annotation Details for C2


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Basic Information Top
Gene Symbol:C2 ( CO2,DKFZp779M0311 )
Gene Full Name: complement component 2
Band: 6p21.33
Quick LinksEntrez ID:717; OMIM: 217000; Uniprot ID:CO2_HUMAN; ENSEMBL ID: ENSG00000166278; HGNC ID: 1248
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005576TAS-extracellular region-
GO:0005615IEA-extracellular space-
GO:0070062IDA-extracellular exosome23533145
GO ID Evidence Qualifier GO_term References
GO:0004252TAS-serine-type endopeptidase activity-
GO:0005515IPI-protein binding25910212
GO:0046872IEA-metal ion binding-
GO ID Evidence Qualifier GO_term References
GO:0006508IEA-proteolysis-
GO:0006956IMP-complement activation19302245
GO:0006956TAS-complement activation-
GO:0006958IEA-complement activation, classical pathway-
GO:0007584IEA-response to nutrient-
GO:0030449TAS-regulation of complement activation-
GO:0045087IEA-innate immune response-
GO:2000427IMP-positive regulation of apoptotic cell clearance19302245
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
C4BC210718210946278 11341920 Reconstituted Complex
C4BC210717810946278 11341920 Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Gene Symbol Poly Names Gene overview in AlzGene
C2C2*ABC Gene overview in AlzGene
Gene Symbol Poly Names Gene overview in PDGene
C2C2*ABC Gene overview in PDGene
No data
Animal Model Top
  • MGI ID: MGI:88226
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

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