Aliases for SHANK2 Gene
External Ids for SHANK2 Gene
Previous HGNC Symbols for SHANK2 Gene
Previous GeneCards Identifiers for SHANK2 Gene
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. [provided by RefSeq, Feb 2014]
GeneCards Summary for SHANK2 Gene
SHANK2 (SH3 And Multiple Ankyrin Repeat Domains 2) is a Protein Coding gene. Diseases associated with SHANK2 include autism susceptibility 17 and mental retardation, autosomal recessive 48. Among its related pathways are Circadian entrainment and Regulation of CFTR activity (norm and CF). GO annotations related to this gene include SH3 domain binding and GKAP/Homer scaffold activity. An important paralog of this gene is SHANK1.
UniProtKB/Swiss-Prot for SHANK2 Gene
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.