AutismKB 2.0

Annotation Details for SH3GL2


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Basic Information Top
Gene Symbol:SH3GL2 ( CNSA2,EEN-B1,FLJ20276,FLJ25015,SH3D2A,SH3P4 )
Gene Full Name: SH3-domain GRB2-like 2
Band: 9p22.2
Quick LinksEntrez ID:6456; OMIM: 604465; Uniprot ID:SH3G2_HUMAN; ENSEMBL ID: ENSG00000107295; HGNC ID: 10831
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000139TAS-Golgi membrane-
GO:0005769ISS-early endosome-
GO:0005829TAS-cytosol-
GO:0005886TAS-plasma membrane-
GO:0030669TAS-clathrin-coated endocytic vesicle membrane-
GO:0045202IEA-synapse-
GO:0070062IDA-extracellular exosome23376485
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding10531379
GO:0008289IEA-lipid binding-
GO:0042802IPI-identical protein binding16115810
GO ID Evidence Qualifier GO_term References
GO:0002090IEA-regulation of receptor internalization-
GO:0007018TAS-microtubule-based movement-
GO:0007165TAS-signal transduction9169142
GO:0007417TAS-central nervous system development9169142
GO:0016191IEA-synaptic vesicle uncoating-
GO:0019886TAS-antigen processing and presentation of exogenous peptide antigen via MHC class II-
GO:0031175ISS-neuron projection development-
GO:0042059TAS-negative regulation of epidermal growth factor receptor signaling pathway-
GO:0061024TAS-membrane organization-
GO:0097484ISS-dendrite extension-
GO:1990416ISS-cellular response to brain-derived neurotrophic factor stimulus-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
SH3GL2ACTG111235316169070 Two-hybrid
SH3GL2ACTG110658616169070 Two-hybrid
SH3GL2AMPH1123539341169 12456676 Reconstituted Complex
SH3GL2AMPH1067709341169 12456676 Reconstituted Complex
SH3GL2BIN111235312456676 Reconstituted Complex
SH3GL2BIN110677112456676 Reconstituted Complex
SH3GL2CBL11235311894095 Affinity Capture-Western
SH3GL2CBL10731511894095 Affinity Capture-Western
SH3GL2DNM11080999341169 12456676 Reconstituted Complex
SH3GL2DNM11123539341169 12456676 Reconstituted Complex
SH3GL2EGFR11235315456872 Affinity Capture-Western
SH3GL2EGFR10827615456872 Affinity Capture-Western
SH3GL2EMD11235316169070 Two-hybrid
SH3GL2EMD10832516169070 Two-hybrid
SH3GL2ERH11235316169070 Two-hybrid
SH3GL2ERH10839016169070 Two-hybrid
SH3GL2HLA-DQA111235316169070 Two-hybrid
SH3GL2HLA-DQA110936216169070 Two-hybrid
SH3GL2IL611235316169070 Two-hybrid
SH3GL2IL610978316169070 Two-hybrid
SYNJ1SH3GL21123539341169 Affinity Capture-Western; Reconstituted Complex
SYNJ1SH3GL21143889341169 Affinity Capture-Western; Reconstituted Complex
ADAM15SH3GL211235310531379 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
ADAM15SH3GL211428710531379 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
ADAM9SH3GL211235310531379 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
ADAM9SH3GL211429010531379 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
ADAM19SH3GL211235310531379 Two-hybrid
ADAM19SH3GL211426710531379 Two-hybrid
SH3KBP1SH3GL211235311894095 15456872 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
SH3KBP1SH3GL211902911894095 15456872 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
SYN1SH3GL211235312456676 Reconstituted Complex
SYN1SH3GL211271912456676 Reconstituted Complex
SYNJ2SH3GL211439112456676 Reconstituted Complex
SYNJ2SH3GL211235312456676 Reconstituted Complex
UBCSH3GL211235314684745 Affinity Capture-Western
UBCSH3GL211316414684745 Affinity Capture-Western
ITCHSH3GL211235314684745 Affinity Capture-Western
ITCHSH3GL212374714684745 Affinity Capture-Western
PDCD6IPSH3GL211235315456872 Affinity Capture-Western
PDCD6IPSH3GL211533215456872 Affinity Capture-Western
EGFL6SH3GL211235316169070 Two-hybrid
EGFL6SH3GL211745916169070 Two-hybrid
TCEA2SH3GL211235316169070 Two-hybrid
TCEA2SH3GL211278116169070 Two-hybrid
Gene Symbol Interactant Interaction ID References Description
SH3KBP1SH3GL219371411894095 CIN85 interacts with endophilin A1. This interaction was modeled on a demonstrated interaction between human CIN85 and mouse endophilin A1.
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:700009
  • 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