AutismKB 2.0

Annotation Details for IL3RA


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:IL3RA ( CD123,IL3R,IL3RAY,IL3RX,IL3RY,MGC34174,hIL-3Ra )
Gene Full Name: interleukin 3 receptor, alpha (low affinity)
Band: Xp22.3 and Yp13.3
Quick LinksEntrez ID:3563; OMIM: 308385,430000; Uniprot ID:IL3RA_HUMAN; ENSEMBL ID: ENSG00000185291; HGNC ID: 6012
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005622IEA-intracellular-
GO:0005886TAS-plasma membrane-
GO:0016021IEA-integral component of membrane-
GO ID Evidence Qualifier GO_term References
GO:0004713TAS-protein tyrosine kinase activity-
GO:0004912TAS-interleukin-3 receptor activity1833064
GO:0005088TAS-Ras guanyl-nucleotide exchange factor activity-
GO ID Evidence Qualifier GO_term References
GO:0000165TAS-MAPK cascade-
GO:0018108IEA-peptidyl-tyrosine phosphorylation-
GO:0036016IEA-cellular response to interleukin-3-
GO:0038156IEA-interleukin-3-mediated signaling pathway-
GO:0043547IEA-positive regulation of GTPase activity-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
IL3RACISH1075747796808 Affinity Capture-Western
IL3RACISH1097787796808 Affinity Capture-Western
IL3RAIL31097777957082 8649415 Reconstituted Complex
IL3RAIL31097787957082 8649415 Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
No data
No data
Gene Symbol Poly Names Gene overview in SZGene
IL3RArs11480, rs17883130, rs17883192, rs17883366, rs28699412, rs6422441, rs6603272, rs6645249 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:96553
  • Data Attributes: 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