AutismKB 2.0

Annotation Details for SHANK2


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Basic Information Top
Gene Symbol:SHANK2 ( AUTS17,CORTBP1,CTTNBP1,ProSAP1,SHANK,SPANK-3 )
Gene Full Name: SH3 and multiple ankyrin repeat domains 2
Band: 11q13.3-q13.4
Quick LinksEntrez ID:22941; OMIM: 603290; Uniprot ID:SHAN2_HUMAN; ENSEMBL ID: ENSG00000162105; HGNC ID: 14295
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0001750ISS-photoreceptor outer segment-
GO:0001917ISS-photoreceptor inner segment-
GO:0005575ND-cellular_component-
GO:0005829TAS-cytosol-
GO:0005883ISScolocalizes_withneurofilament-
GO:0005886ISS-plasma membrane-
GO:0008328ISScolocalizes_withionotropic glutamate receptor complex-
GO:0014069ISS-postsynaptic density-
GO:0016324ISS-apical plasma membrane-
GO:0030054IEA-cell junction-
GO:0030426ISS-growth cone-
GO:0031526ISS-brush border membrane-
GO:0043005ISS-neuron projection-
GO:0043025ISS-neuronal cell body-
GO:0043197ISS-dendritic spine-
GO:0045211ISScolocalizes_withpostsynaptic membrane-
GO:0060170ISS-ciliary membrane-
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding11583995
GO:0017124IEA-SH3 domain binding-
GO:0030160NAS-GKAP/Homer scaffold activity10506216
GO:0035255ISS-ionotropic glutamate receptor binding-
GO ID Evidence Qualifier GO_term References
GO:0007416ISS-synapse assembly22699620
GO:0007612IMP-learning20473310
GO:0030534IMP-adult behavior20473310
GO:0035176IMP-social behavior20473310
GO:0060291ISS-long-term synaptic potentiation22699620
GO:0060292ISS-long term synaptic depression22699620
GO:0071625IMP-vocalization behavior20473310
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
SHANK2DLG411659810527873 10844022 Affinity Capture-Western
SHANK2DLG410808610527873 10844022 Affinity Capture-Western
SHANK2DNM211659811583995 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
SHANK2DNM210812211583995 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
SHANK2CTTN1165989742101 Affinity Capture-Western; Two-hybrid
SHANK2CTTN1083329742101 Affinity Capture-Western; Two-hybrid
SHANK2MYO5A11659810844022 Affinity Capture-Western
SHANK2MYO5A11072810844022 Affinity Capture-Western
SHANK2DYNLL111420610844022 Affinity Capture-Western
SHANK2DYNLL111659810844022 Affinity Capture-Western
SHANK2ARHGEF711439312626503 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
SHANK2ARHGEF711659812626503 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
SHANK2DLGAP211465910527873 Two-hybrid
SHANK2DLGAP211659810527873 Two-hybrid
SHANK2DLGAP111466010527873 10844022 Affinity Capture-Western; Two-hybrid
SHANK2DLGAP111659810527873 10844022 Affinity Capture-Western; Two-hybrid
SHANK2DLGAP411659810527873 Two-hybrid
SHANK2DLGAP411651310527873 Two-hybrid
DLGAP3SHANK211659810527873 Two-hybrid
DLGAP3SHANK212183910527873 Two-hybrid
DYNLL2SHANK211659810844022 Affinity Capture-Western
DYNLL2SHANK212668010844022 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2671987
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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  (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