Gene table of SHANK3 : SH3 and multiple ankyrin repeat domains 3

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SHANK3	OMIM link	Number of associated genes	genes
606232	PHELAN-MCDERMID SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	SHANK3
613950	SCHIZOPHRENIA 15	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	SHANK3

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 pathway	KEGG ID	KEGG IC
Glutamatergic synapse	hsa04724	5.84

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
cation binding	GO:0043169	1.4
zinc ion binding	GO:0008270	2.66
metal ion binding	GO:0046872	1.41
receptor signaling complex scaffold activity	GO:0030159	6.6
transition metal ion binding	GO:0046914	2.48
cytoskeletal protein binding	GO:0008092	3.02
protein C-terminus binding	GO:0008022	4.5
GKAP/Homer scaffold activity	GO:0030160	8.64
SH3 domain binding	GO:0017124	4.98
ionotropic glutamate receptor binding	GO:0035255	6.56
ion binding	GO:0043167	1.36
actin binding	GO:0003779	3.74
scaffold protein binding	GO:0097110	5.93
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
protein domain specific binding	GO:0019904	3.32
receptor binding	GO:0005102	2.43
structural molecule activity	GO:0005198	3.1
glutamate receptor binding	GO:0035254	6.13
identical protein binding	GO:0042802	2.63
protein complex scaffold	GO:0032947	5.5