SHANK3

SHANK3
Identifiers
Aliases	SHANK3, DEL22q13.3, PROSAP2, PSAP2, SCZD15, SPANK-2, SH3 and multiple ankyrin repeat domains 3
External IDs	OMIM: 606230; MGI: 1930016; HomoloGene: 75163; GeneCards: SHANK3; OMA:SHANK3 - orthologs
Gene location (Human)
Chr.	Chromosome 22 (human)
End	50,733,212 bp
Gene location (Mouse)
Chr.	Chromosome 15 (mouse)
End	89,444,464 bp
RNA expression pattern
	Top expressed in
	right hemisphere of cerebellum; ; cerebellar vermis; ; lateral nuclear group of thalamus; ; spleen; ; cardiac muscle tissue of right atrium; ; apex of heart; ; entorhinal cortex; ; postcentral gyrus; ; sural nerve; ; myocardium of left ventricle;
	Top expressed in
	medial dorsal nucleus; ; dentate gyrus of hippocampal formation granule cell; ; medial geniculate nucleus; ; olfactory tubercle; ; cerebellar cortex; ; superior frontal gyrus; ; primary visual cortex; ; lobe of cerebellum; ; lateral geniculate nucleus; ; cerebellar vermis;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	SH3 domain binding; scaffold protein binding; zinc ion binding; protein C-terminus binding; protein binding; synaptic receptor adaptor activity; actin binding; ionotropic glutamate receptor binding; protein self-association; signaling receptor complex adaptor activity;
Cellular component	cytoplasm; postsynaptic membrane; cell projection; membrane; plasma membrane; dendritic spine; synapse; cell junction; ciliary membrane; neuron spine; neuron projection; postsynaptic density; cytosol; extrinsic component of cytoplasmic side of plasma membrane; ionotropic glutamate receptor complex; dendrite;
Biological process	positive regulation of long-term synaptic potentiation; positive regulation of synapse structural plasticity; NMDA glutamate receptor clustering; regulation of long-term synaptic depression; positive regulation of glutamate receptor signaling pathway; postsynaptic density assembly; negative regulation of actin filament bundle assembly; negative regulation of cell volume; positive regulation of AMPA receptor activity; memory; learning; positive regulation of dendritic spine development; MAPK cascade; striatal medium spiny neuron differentiation; AMPA glutamate receptor clustering; dendritic spine morphogenesis; vocal learning; vocalization behavior; adult behavior; positive regulation of synaptic transmission, glutamatergic; positive regulation of long-term neuronal synaptic plasticity; regulation of long-term synaptic potentiation; positive regulation of excitatory postsynaptic potential; social behavior; guanylate kinase-associated protein clustering; synapse assembly; regulation of dendritic spine morphogenesis; brain morphogenesis; axon guidance; synaptic assembly at neuromuscular junction; long-term potentiation; regulation of AMPA receptor activity;
	Sources:Amigo / QuickGO
Orthologs
	85358
	58234
	ENSG00000251322
	ENSMUSG00000022623
	Q9BYB0
	Q4ACU6
	NM_001080420; NM_001372044
	NM_021423
	NP_277052
	NP_067398
	Wikidata
View/Edit Human	View/Edit Mouse

SH3 and multiple ankyrin repeat domains 3 (Shank3), also known as proline-rich synapse-associated protein 2 (ProSAP2), is a protein that in humans is encoded by the SHANK3 gene on chromosome 22. Additional isoforms have been described for this gene but they have not yet been experimentally verified.