AutismKB 2.0

Annotation Details for SHANK3


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Basic Information Top
Gene Symbol:SHANK3 ( DEL22q13.3,KIAA1650,PROSAP2,PSAP2,SPANK-2 )
Gene Full Name: SH3 and multiple ankyrin repeat domains 3
Band: 22q13.33
Quick LinksEntrez ID:85358; OMIM: 606230; Uniprot ID:F2Z3L0_HUMAN; ENSEMBL ID: ENSG00000251322; HGNC ID: 14294
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005829TAS-cytosol-
GO:0005886ISS-plasma membrane-
GO:0014069ISS-postsynaptic density-
GO:0030054IEA-cell junction-
GO:0043005ISS-neuron projection-
GO:0043197IEA-dendritic spine-
GO:0044309ISS-neuron spine-
GO:0045211IEA-postsynaptic membrane-
GO:0060170ISS-ciliary membrane-
GO ID Evidence Qualifier GO_term References
GO:0003779IEA-actin binding-
GO:0005515IPI-protein binding17474147
GO:0008022ISS-protein C-terminus binding-
GO:0008270ISS-zinc ion binding-
GO:0017124ISS-SH3 domain binding-
GO:0030160ISS-GKAP/Homer scaffold activity-
GO:0035255ISS-ionotropic glutamate receptor binding-
GO:0043621ISS-protein self-association-
GO:0097110ISS-scaffold protein binding-
GO ID Evidence Qualifier GO_term References
GO:0000165ISS-MAPK cascade-
GO:0007411TAS-axon guidance-
GO:0007416ISS-synapse assembly-
GO:0007612IMP-learning17173049
GO:0007612ISS-learning-
GO:0007613ISS-memory-
GO:0021773ISS-striatal medium spiny neuron differentiation-
GO:0030534IMP-adult behavior17173049
GO:0032232ISS-negative regulation of actin filament bundle assembly-
GO:0035176IMP-social behavior17173049
GO:0035176ISS-social behavior-
GO:0042297IMP-vocal learning17173049
GO:0045794ISS-negative regulation of cell volume-
GO:0048170ISS-positive regulation of long-term neuronal synaptic plasticity-
GO:0048854ISS-brain morphogenesis-
GO:0051835ISS-positive regulation of synapse structural plasticity-
GO:0051968ISS-positive regulation of synaptic transmission, glutamatergic21795692
GO:0060997ISS-dendritic spine morphogenesis-
GO:0060999ISS-positive regulation of dendritic spine development21795692
GO:0061001ISS-regulation of dendritic spine morphogenesis21795692
GO:0071625IMP-vocalization behavior17173049
GO:0071625ISS-vocalization behavior21167025
GO:0097107ISS-postsynaptic density assembly-
GO:0097113ISS-AMPA glutamate receptor clustering21795692
GO:0097114ISS-NMDA glutamate receptor clustering-
GO:0097117ISS-guanylate kinase-associated protein clustering-
GO:1900271ISS-regulation of long-term synaptic potentiation-
GO:1900273ISS-positive regulation of long-term synaptic potentiation-
GO:1900451ISS-positive regulation of glutamate receptor signaling pathway21795692
GO:1900452ISS-regulation of long term synaptic depression21795692
GO:2000463ISS-positive regulation of excitatory postsynaptic potential21795692
GO:2000969ISS-positive regulation of AMPA receptor activity-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
SHANK3SPTAN112448711509555 Two-hybrid
SHANK3SPTAN111258711509555 Two-hybrid
SHANK3ARHGEF711439312626503 Affinity Capture-Western; Two-hybrid
SHANK3ARHGEF712448712626503 Affinity Capture-Western; Two-hybrid
SHANK3DLGAP211465910527873 Two-hybrid
SHANK3DLGAP212448710527873 Two-hybrid
SHANK3DLGAP111466010527873 Two-hybrid
SHANK3DLGAP112448710527873 Two-hybrid
SHANK3DLGAP412448710527873 Two-hybrid
SHANK3DLGAP411651310527873 Two-hybrid
SHANK3DLGAP312448710527873 Two-hybrid
SHANK3DLGAP312183910527873 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
No data
No data
Gene Symbol Poly Names Gene overview in SZGene
SHANK3SHANK3_A721T, SHANK3_Y999Y, rs9616915 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:1930016
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-041210-74'