AutismKB 2.0

Annotation Details for C4B


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Basic Information Top
Gene Symbol:C4B ( C4B1,C4B12,C4B2,C4B3,C4B5,C4F,CH,CO4,CPAMD3,FLJ60561,MGC164979 )
Gene Full Name: complement component 4B (Chido blood group)
Band: 6p21.33
Quick LinksEntrez ID:721; OMIM: 120820; Uniprot ID:CO4B_HUMAN; ENSEMBL ID: ENSG00000224389; HGNC ID: 1324
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005576TAS-extracellular region-
GO:0005615IDA-extracellular space2395880
GO:0005886TAS-plasma membrane-
GO:0030054IEA-cell junction-
GO:0030424IEA-axon-
GO:0030425IEA-dendrite-
GO:0044216IDA-other organism cell22333221
GO:0045202IEA-synapse-
GO:0070062IDA-extracellular exosome23376485
GO:0072562IDA-blood microparticle22516433
GO ID Evidence Qualifier GO_term References
GO:0001848IDA-complement binding2395880
GO:0004252TAS-serine-type endopeptidase activity-
GO:0004866IEA-endopeptidase inhibitor activity-
GO:0030246IDA-carbohydrate binding2395880
GO ID Evidence Qualifier GO_term References
GO:0006508IEA-proteolysis-
GO:0006954IEA-inflammatory response-
GO:0006956IGI-complement activation19302245
GO:0006956TAS-complement activation-
GO:0006958IEA-complement activation, classical pathway-
GO:0008228TAS-opsonization22333221
GO:0010951IEA-negative regulation of endopeptidase activity-
GO:0030449TAS-regulation of complement activation-
GO:0032490IDA-detection of molecule of bacterial origin22333221
GO:0045087IEA-innate immune response-
GO:2000427IGI-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
C4BC4B Gene overview in AlzGene
Gene Symbol Poly Names Gene overview in PDGene
C4BC4B_phenotype Gene overview in PDGene
Gene Symbol Poly Names Gene overview in SZGene
C4BC4B_allotypes, rs4600 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:88228
  • 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


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