SHANK2 Antibody – Mouse Monoclonal

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 (PSD). Shank proteins contain multiple domains for protein-protein interaction, including ankyrin repeats, an SH3 domain, a PSD-95/Dlg/ZO-1 domain, a sterile alpha motif domain, and a proline-rich region. 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 PSDs of adult and developing brain. Two alternative splice variants, encoding distinct isoforms, are reported. Additional splice variants exist but their full-length nature has not been determined. [provided by RefSeq]

SHANK2: 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. Defects in SHANK2 are a cause of susceptibility to autism type 17 (AUTS17). Autism is 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 mental retardation. Belongs to the SHANK family. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Adaptor/scaffold

Chromosomal Location of Human Ortholog: 11q13.2

Cellular Component: neuron projection; photoreceptor inner segment; brush border membrane; postsynaptic density; dendritic spine; postsynaptic membrane; growth cone; photoreceptor outer segment; cell soma; apical plasma membrane; neurofilament; plasma membrane; ionotropic glutamate receptor complex; cell junction

Molecular Function: ionotropic glutamate receptor binding; protein binding; GKAP/Homer scaffold activity; SH3 domain binding

Biological Process: synaptogenesis; adult behavior; social behavior; learning; memory