Hs04090015_cn

• Gene Symbol: SHANK3
• Assay Reference Genome Location: Chr.22:50683300 on build GRCh38
• Cytoband: 22q13.33

Target Gene Details

• Entrez Gene ID: 85358
• Gene Name: SH3 and multiple ankyrin repeat domains 3
• Gene Aliases: DEL22q13.3, PROSAP2, PSAP2, SCZD15, SPANK-2
• Location: Chr.22:50674642-50733212 on Build GRCh38
• Assay Gene Location: Overlaps Intron 7 - Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SHANK3	NM_033517.1			NP_277052.1
	AB569469.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
dgv784n67	Chr.22:50675884 - 50740070 on Build GRCh38	Gain	SHANK3 ACR LOC105373100
nsv955204	Chr.22:50670973 - 50686372 on Build GRCh38	Deletion	SHANK3
nsv459933	Chr.22:50667128 - 50727236 on Build GRCh38	Loss	SHANK3
esv22211	Chr.22:50679539 - 50687056 on Build GRCh38	Gain+Loss	SHANK3
nsv1110404	Chr.22:50679472 - 50683472 on Build GRCh38	Duplication	SHANK3
nsv1076542	Chr.22:50679471 - 50683572 on Build GRCh38	Duplication	SHANK3

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

MAPK cascade
synapse assembly
learning
memory
striatal medium spiny neuron differentiation
adult behavior
negative regulation of actin filament bundle assembly
social behavior
vocal learning
negative regulation of cell volume
positive regulation of long-term neuronal synaptic plasticity
brain morphogenesis
positive regulation of synapse structural plasticity
positive regulation of synaptic transmission, glutamatergic
dendritic spine morphogenesis
positive regulation of dendritic spine development
regulation of dendritic spine morphogenesis
vocalization behavior
postsynaptic density assembly
AMPA glutamate receptor clustering
NMDA glutamate receptor clustering
guanylate kinase-associated protein clustering
regulation of long-term synaptic potentiation
positive regulation of long-term synaptic potentiation
positive regulation of glutamate receptor signaling pathway
regulation of long term synaptic depression
positive regulation of excitatory postsynaptic potential
positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity

Function(s)

actin binding
protein binding
protein C-terminus binding
zinc ion binding
SH3 domain binding
GKAP/Homer scaffold activity
ionotropic glutamate receptor binding
identical protein binding
scaffold protein binding