SHANK3

SHANK3
Identifiers
Aliases	SHANK3, DEL22q13.3, PROSAP2, PSAP2, SCZD15, SPANK-2, SH3 and multiple ankyrin repeat domains 3
External IDs	MGI: 1930016 HomoloGene: 75163 GeneCards: SHANK3
Gene ontology Molecular function • SH3 domain binding • scaffold protein binding • zinc ion binding • protein C-terminus binding • protein binding • GKAP/Homer scaffold activity • actin binding • ionotropic glutamate receptor binding • protein self-association Cellular component • cytoplasm • postsynaptic membrane • cell projection • membrane • plasma membrane • dendritic spine • synapse • cell junction • ciliary membrane • neuron spine • neuron projection • postsynaptic density • cytosol 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 Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	85358	58234
Ensembl	n/a	ENSMUSG00000022623
UniProt	Q9BYB0	Q4ACU6
RefSeq (mRNA)	NM_033517 NM_001080420	NM_021423
RefSeq (protein)	NP_277052	NP_067398
Location (UCSC)	n/a	Chr 15: 89.5 – 89.56 Mb
PubMed search

85358

58234

n/a

ENSMUSG00000022623

Q9BYB0

Q4ACU6

NM_033517
NM_001080420

NM_021423

NP_277052

NP_067398

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.

This gene is a member of the Shank gene family. Shank proteins are multidomain scaffold proteins of the postsynaptic density that connect neurotransmitter receptors, ion channels, and other membrane proteins to the actin cytoskeleton and G-protein-coupled signaling pathways. Shank proteins also play a role in synapse formation and dendritic spine maturation.

Mutations in this gene are associated with autism spectrum disorder. This gene is often missing in patients with 22q13.3 deletion syndrome, although not in all cases.

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Wikipedia