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Protein Page:
SHANK2 iso4 (human)

Overview
SHANK2 iso4 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. Note: This description may include information from UniProtKB.
Protein type: Adaptor/scaffold
Chromosomal Location of Human Ortholog: 11q13.2
Cellular Component: apical plasma membrane; brush border membrane; cell soma; dendritic spine; growth cone; ionotropic glutamate receptor complex; neurofilament; neuron projection; photoreceptor inner segment; photoreceptor outer segment; plasma membrane; postsynaptic density; postsynaptic membrane
Molecular Function: ionotropic glutamate receptor binding; protein binding
Biological Process: adult behavior; learning; social behavior; synaptogenesis
Disease: Autism, Susceptibility To, 17
Reference #:  Q9UPX8-4 (UniProtKB)
Alt. Names/Synonyms: cortactin SH3 domain-binding protein; Cortactin-binding protein 1; CORTBP1; CTTNBP1; GKAP/SAPAP interacting protein; KIAA1022; proline-rich synapse associated protein 1; Proline-rich synapse-associated protein 1; PROSAP1; SH3 and multiple ankyrin repeat domains 2; SH3 and multiple ankyrin repeat domains protein 2; SHAN2; SHANK; SHANK2; SPANK-3
Gene Symbols: SHANK2
Molecular weight: 134,931 Da
Basal Isoelectric point: 5.45  Predict pI for various phosphorylation states
Select Structure to View Below

SHANK2 iso4

Protein Structure Not Found.


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