AutismKB 2.0

Annotation Details for CX3CR1


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Basic Information Top
Gene Symbol:CX3CR1 ( CCRL1,CMKBRL1,CMKDR1,GPR13,GPRV28,V28 )
Gene Full Name: chemokine (C-X3-C motif) receptor 1
Band: 3p22.2
Quick LinksEntrez ID:1524; OMIM: 601470; Uniprot ID:CX3C1_HUMAN; ENSEMBL ID: ENSG00000168329; HGNC ID: 2558
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886TAS-plasma membrane-
GO:0005887TAS-integral component of plasma membrane9390561
GO:0032809IEA-neuronal cell body membrane-
GO:0043005IEA-neuron projection-
GO:0048471IEA-perinuclear region of cytoplasm-
GO ID Evidence Qualifier GO_term References
GO:0004950TAS-chemokine receptor activity10754298
GO:0005515IPI-protein binding9931005
GO:0016495IEA-C-X3-C chemokine receptor activity-
GO:0019960IDA-C-X3-C chemokine binding23125415
GO ID Evidence Qualifier GO_term References
GO:0002052IEA-positive regulation of neuroblast proliferation-
GO:0002282IEA-microglial cell activation involved in immune response-
GO:0002881IEA-negative regulation of chronic inflammatory response to non-antigenic stimulus-
GO:0006935TAS-chemotaxis10754298
GO:0006968TAS-cellular defense response10754298
GO:0007155IEA-cell adhesion-
GO:0007186IEA-G-protein coupled receptor signaling pathway-
GO:0007613IEA-memory-
GO:0009611TAS-response to wounding10754298
GO:0016032IEA-viral process-
GO:0016525IEA-negative regulation of angiogenesis-
GO:0021795IEA-cerebral cortex cell migration-
GO:0030336IEA-negative regulation of cell migration-
GO:0045766IEA-positive regulation of angiogenesis-
GO:0048246IEA-macrophage chemotaxis-
GO:0070098IEA-chemokine-mediated signaling pathway-
GO:0071222IEA-cellular response to lipopolysaccharide-
GO:0071560IEA-cellular response to transforming growth factor beta stimulus-
GO:1900272IEA-negative regulation of long-term synaptic potentiation-
GO:2001240IEA-negative regulation of extrinsic apoptotic signaling pathway in absence of ligand-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
CX3CL1CX3CR11122789931005 Co-crystal Structure
CX3CL1CX3CR11079049931005 Co-crystal Structure
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1333815
  • 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