SHANK2
Domain
The PDZ domain is required for interaction with GRID2, PLCB3, CFTR and SLC9A3.
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.
Involvement in disease
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.
None
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the SHANK family.
Tissue Specificity
Isoform 3 is present in epithelial colonic cells (at protein level).
Cellular localization
- 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).
Alternative names
CORTBP1, KIAA1022, PROSAP1, SH3 and multiple ankyrin repeat domains protein 2, Shank2, Cortactin-binding protein 1, Proline-rich synapse-associated protein 1, CortBP1