AutismKB 2.0

Annotation Details for GAB2


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Basic Information Top
Gene Symbol:GAB2 ( KIAA0571 )
Gene Full Name: GRB2-associated binding protein 2
Band: 11q14.1
Quick LinksEntrez ID:9846; OMIM: 606203; Uniprot ID:GAB2_HUMAN; ENSEMBL ID: ENSG00000033327; HGNC ID: 14458
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737IDA-cytoplasm19172738
GO:0005829TAS-cytosol-
GO:0005886IDA-plasma membrane19172738
GO ID Evidence Qualifier GO_term References
GO:0005068IDA-transmembrane receptor protein tyrosine kinase adaptor activity19172738
GO:0005515IPI-protein binding15170389
GO:0005547ISS-phosphatidylinositol-3,4,5-trisphosphate binding-
GO:0043325ISS-phosphatidylinositol-3,4-bisphosphate binding-
GO ID Evidence Qualifier GO_term References
GO:0007169IEA-transmembrane receptor protein tyrosine kinase signaling pathway-
GO:0007411TAS-axon guidance-
GO:0008284IDA-positive regulation of cell proliferation19172738
GO:0030316IMP-osteoclast differentiation15750601
GO:0038095TAS-Fc-epsilon receptor signaling pathway-
GO:0043306ISS-positive regulation of mast cell degranulation-
GO:0048015ISS-phosphatidylinositol-mediated signaling-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
GAB2AKT110671011782427 Affinity Capture-Western; Biochemical Activity
GAB2AKT111518111782427 Affinity Capture-Western; Biochemical Activity
GAB2BCR10708315143164 Affinity Capture-Western
GAB2BCR11518115143164 Affinity Capture-Western
GAB2CD24710735711572860 Affinity Capture-Western
GAB2CD24711518111572860 Affinity Capture-Western
GAB2CRKL10778910871282 11334882 Affinity Capture-Western; Protein-peptide; Two-hybrid
GAB2CRKL11518110871282 11334882 Affinity Capture-Western; Protein-peptide; Two-hybrid
GAB2ETV610842115143164 Affinity Capture-Western
GAB2ETV611518115143164 Affinity Capture-Western
GAB2GRB210914210391903 11782427 15143164 20936779 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
GAB2GRB211518110391903 11782427 15143164 20936779 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
GAB2LYN11024511971018 Affinity Capture-Western
GAB2LYN11518111971018 Affinity Capture-Western
GAB2MET11039110871282 Affinity Capture-Western
GAB2MET11518110871282 Affinity Capture-Western
GAB2NCK111077010391903 Reconstituted Complex
GAB2NCK111518110391903 Reconstituted Complex
GAB2PIK3R111518110871282 11334882 11782427 Affinity Capture-Western; Two-hybrid
GAB2PIK3R111131310871282 11334882 11782427 Affinity Capture-Western; Two-hybrid
GAB2PLCG111518110391903 Reconstituted Complex
GAB2PLCG111135110391903 Reconstituted Complex
GAB2PLCG211518112135708 Affinity Capture-Western
GAB2PLCG211135212135708 Affinity Capture-Western
GAB2PTPN611174211895767 Affinity Capture-Western
GAB2PTPN611518111895767 Affinity Capture-Western
GAB2PTPN1111518110391903 10871282 11334882 11782427 12135708 Affinity Capture-Western; Two-hybrid
GAB2PTPN1111174510391903 10871282 11334882 11782427 12135708 Affinity Capture-Western; Two-hybrid
GAB2SHC111236111782427 12135708 Affinity Capture-Western
GAB2SHC111518111782427 12135708 Affinity Capture-Western
GAB2SRC11259210391903 Affinity Capture-Western
GAB2SRC11518110391903 Affinity Capture-Western
GAB2ZAP7011336711572860 Affinity Capture-Western
GAB2ZAP7011518111572860 Affinity Capture-Western
GAB2ARHGAP3211518112819203 Affinity Capture-Western; Two-hybrid
GAB2ARHGAP3211509112819203 Affinity Capture-Western; Two-hybrid
GRAPGAB211597310391903 Reconstituted Complex
GRAPGAB211518110391903 Reconstituted Complex
LATGAB211518111572860 Affinity Capture-Western
LATGAB211797111572860 Affinity Capture-Western
No data
Gene Symbol Interactant Interaction ID References Description
GAB2ARHGAP320586612819203 -
GAB2ARHGAP321225712819203 -
AlzGene, PDGene and SZGene Top
Gene Symbol Poly Names Gene overview in AlzGene
GAB2rs1007837, rs10501426, rs10793294, rs10899469, rs10899496, rs11237451, rs11601726, rs11603112, rs1318241, rs1385600, rs1893447, rs1981405, rs2292572, rs2373115, rs2450129, rs2450135, rs2510038, rs2511175, rs2511188, rs4291702, rs4944196, rs4945261, rs6592772, rs7101429, rs7107174, rs7112234, rs7115850, rs731600, rs7927923, rs7941639, rs901104 Gene overview in AlzGene
No data
No data
Animal Model Top
  • MGI ID: MGI:1333854
  • 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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