SHANK2


Description

The SHANK2 (SH3 and multiple ankyrin repeat domains 2) is a protein-coding gene located on chromosome 11.

SHANK2, encoded by the SHANK2 gene, is a member of the Shank family of synaptic proteins. These proteins function as molecular scaffolds in the postsynaptic density (PSD), a specialized region of the synapse. SHANK2 contains several domains that enable protein-protein interactions, including ankyrin repeats, an SH3 domain, a PSD-95/Dlg/ZO-1 domain, a sterile alpha motif domain, and a proline-rich region. SHANK2 exhibits alternative splicing, which may regulate its molecular structure and the range of interacting proteins in the PSD. It is proposed that SHANK2 contributes to synaptogenesis by linking metabotropic glutamate receptors (mGluRs) to NMDA receptors (NMDA-Rs), potentially through interactions with PSD-95 and Homer1. Additionally, SHANK2 might be involved in the association of NMDA receptors with intracellular calcium stores through interactions with IP3R/RYR and the Homer/Shank/GKAP/PSD-95 complex. SHANK2 has been shown to interact with proteins including ARHGEF7, Cortactin, DLG4, DLGAP1, and DNM2.

SHANK2 is also known as AUTS17, CORTBP1, CTTNBP1, ProSAP1, SHANK, SPANK-3.

Associated Diseases


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