Gene table of SHANK2 : SH3 and multiple ankyrin repeat domains 2

Gene-disease associations table

Disease IDDisease nameSource of annotation with SHANK2OMIM linkNumber of associated genesgenes
PS209850AUTISM, SUSCEPTIBLITY TOClinVar, OMIM link to OMIM 13CNTNAP2, PTCHD1, NLGN3, EN2, MET, MECP2, SHANK2, TMLHE, SLC9A9, CHD8, NLGN4X, EIF4E, RPL10

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Annotation of the gene SHANK2

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Glutamatergic synapsehsa047245.84
Associated REACTOME pathways
Associated GO terms for Molecular function
GO termGO IDGO IC
protein bindingGO:00055150.46
receptor signaling complex scaffold activityGO:00301596.6
SH3 domain bindingGO:00171244.98
ionotropic glutamate receptor bindingGO:00352556.56
structural molecule activityGO:00051983.1
protein complex scaffoldGO:00329475.5
GKAP/Homer scaffold activityGO:00301608.64
receptor bindingGO:00051022.43
glutamate receptor bindingGO:00352546.13
protein domain specific bindingGO:00199043.32
bindingGO:00054880.18