Description | Product Characteristics: Function: 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.Subcellular location: Cytoplasm. Cell junction synapse. Cell junction synapse postsynaptic cell membrane postsynaptic density. Note: Cytoplasm, postsynaptic density of neuronal cells.Tissue specificity: All isoforms except isoform 7 are expressed predominantly in brain, with highest levels inolfactory bulb, cerebral cortex, cerebellum, central gray matter and hippocampus. Moderate levels of expression are seen in the caudate putamen, thalamic nuclei and brain stem. In cerebellum primarily expressed in Purkinje cells. Isoform 7 is not expressed in brain but expressed in liver, cholangiocytes and thymus. Isoform 7 is present in pancreas, colonic mucosa and thymocytes (at protein level). Also known as: SHAN2, SH3 and multiple ankyrin repeat domains protein 2, Shank2, Cortactin-binding protein 1, CortBP1, Proline-rich synapse-associated protein 1, PROSAP1.Target Information: 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, Jul 2008]. |