SHANK2

This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density of excitatory synapses. Shank proteins contain multiple domains for protein-protein interaction, including ankyrin repeats, and an SH3 domain. This particular family member contains a PDZ domain, a consensus sequence for cortactin SH3 domain-binding peptides and a sterile alpha motif. The alternative splicing demonstrated in Shank genes has been suggested as a mechanism for regulating the molecular structure of Shank and the spectrum of Shank-interacting proteins in the postsynaptic densities of the adult and developing brain. Alterations in the encoded protein may be associated with susceptibility to autism spectrum disorder. Alternative splicing results in multiple transcript variants.

SH3 and multiple ankyrin repeat domains 2

Seems to be an adapter protein in the postsynaptic density (PSD) of excitatory synapses that interconnects receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors, and the actin-based cytoskeleton. May play a role in the structural and functional organization of the dendritic spine and synaptic junction.

Biological Process adult behaviorManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process adult locomotory behaviorIEA:Ensembl
Biological Process associative learningIEA:Ensembl
Biological Process brain developmentIEA:Ensembl
Biological Process learningManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process long-term synaptic depressionBy SimilarityISS:BHF-UCL
Biological Process long-term synaptic potentiationBy SimilarityISS:BHF-UCL
Biological Process negative regulation of hippo signalingManual Assertion Based On ExperimentIMP:FlyBase
Biological Process positive regulation of cell population proliferationManual Assertion Based On ExperimentIMP:FlyBase
Biological Process regulation of synapse organizationIEA:Ensembl
Biological Process response to nutrientIEA:Ensembl
Biological Process response to xenobiotic stimulusIEA:Ensembl
Biological Process social behaviorManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process synapse assemblyBy SimilarityISS:BHF-UCL
Biological Process vocalization behaviorManual Assertion Based On ExperimentIMP:BHF-UCL

Apical cell membrane
Cytoplasm
Synapse
Postsynaptic density
Cell projection, growth cone
Cell projection, dendritic spine
Colocalizes with cortactin in growth cones in differentiating hippocampal neurons. Colocalized with PDE4D to the apical membrane of colonic crypt cells (By similarity).

Autism 17 (AUTS17):
A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability.