AutismKB 2.0

Annotation Details for C3


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Basic Information Top
Gene Symbol:C3 ( AHUS5,ARMD9,ASP,CPAMD1 )
Gene Full Name: complement component 3
Band: 19p13.3
Quick LinksEntrez ID:718; OMIM: 120700; Uniprot ID:CO3_HUMAN; ENSEMBL ID: ENSG00000125730; HGNC ID: 1318
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005576TAS-extracellular region-
GO:0005615IDA-extracellular space16502470
GO:0005788TAS-endoplasmic reticulum lumen-
GO:0005886TAS-plasma membrane-
GO:0034774TAS-secretory granule lumen-
GO:0035578TAS-azurophil granule lumen-
GO:0070062IDA-extracellular exosome21362503
GO:0072562IDA-blood microparticle22516433
GO ID Evidence Qualifier GO_term References
GO:0004252TAS-serine-type endopeptidase activity-
GO:0004866IEA-endopeptidase inhibitor activity-
GO:0005102TAS-receptor binding9164946
GO:0005515IPI-protein binding7483825
GO:0031715IDA-C5L2 anaphylatoxin chemotactic receptor binding15833747
GO ID Evidence Qualifier GO_term References
GO:0001798IEA-positive regulation of type IIa hypersensitivity-
GO:0001934IDA-positive regulation of protein phosphorylation15833747
GO:0001970IEA-positive regulation of activation of membrane attack complex-
GO:0006508IEA-proteolysis-
GO:0006631IEA-fatty acid metabolic process-
GO:0006954IEA-inflammatory response-
GO:0006955TAS-immune response4097977
GO:0006956IMP-complement activation19302245
GO:0006956TAS-complement activation-
GO:0006957TAS-complement activation, alternative pathway-
GO:0006958IEA-complement activation, classical pathway-
GO:0007165TAS-signal transduction10085065
GO:0007186TAS-G-protein coupled receptor signaling pathway9164946
GO:0010575IDA-positive regulation of vascular endothelial growth factor production16452172
GO:0010828IDA-positive regulation of glucose transport9059512
GO:0010866IDA-regulation of triglyceride biosynthetic process10432298
GO:0010884IDA-positive regulation of lipid storage9555951
GO:0010951IEA-negative regulation of endopeptidase activity-
GO:0030449TAS-regulation of complement activation-
GO:0043312TAS-neutrophil degranulation-
GO:0043687TAS-post-translational protein modification-
GO:0044267TAS-cellular protein metabolic process-
GO:0045745IDA-positive regulation of G-protein coupled receptor protein signaling pathway15833747
GO:0045766IEA-positive regulation of angiogenesis-
GO:0050776TAS-regulation of immune response-
GO:2000427IMP-positive regulation of apoptotic cell clearance19302245
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
C3CFB10709811367533 Reconstituted Complex
C3CFB10717911367533 Reconstituted Complex
CFPC31071793421908 11513971 Reconstituted Complex
CFPC31112223421908 11513971 Reconstituted Complex
ITGAXC31071794062888 Reconstituted Complex
ITGAXC31098934062888 Reconstituted Complex
CFIC31071798648130 9291131 Biochemical Activity; Reconstituted Complex
CFIC31096528648130 9291131 Biochemical Activity; Reconstituted Complex
CFHC31071799291131 11367533 Reconstituted Complex
CFHC31093249291131 11367533 Reconstituted Complex
CFHR4C310717910622723 Reconstituted Complex
CFHR4C311608510622723 Reconstituted Complex
CFHR3C310717910622723 Reconstituted Complex
CFHR3C311608610622723 Reconstituted Complex
CFHR5C310717911058592 Reconstituted Complex
CFHR5C312350311058592 Reconstituted Complex
C5C310718811367533 Reconstituted Complex
C5C310717911367533 Reconstituted Complex
CPN1C310776111939578 Biochemical Activity
CPN1C310717911939578 Biochemical Activity
No data
No data
AlzGene, PDGene and SZGene Top
No data
No data
Gene Symbol Poly Names Gene overview in SZGene
C3C3_F/S Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:88227
  • 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