SH3 & multiple ankyrin repeat domains protein 3; Shank3; proline-rich synapse-associated protein 2; ProSAP2 (SHANK3 KIAA1650 PSAP2)

Function

• seems to be an adapter protein in the postsynaptic density of excitatory synapses that interconnects receptors of the postsynaptic membrane including NMDA-receptor & metabotropic glutamate receptors via complexes with GKAP/PSD-95 & homer, respectively, & the actin-based cytoskeleton
• may play a role in the structural & functional organization of the dendritic spine & synaptic junction
• may homomultimerize via its SAM domain (putative)
• interacts with DLGAP1/GKAP, MGLUR1A, MGLUR5 C-termini via its PDZ domain (putative)
• interacts with HOMER1, HOMER2, HOMER3 & CCTN/cortactin SH3 domain (putative)
• part of a complex with DLG4/PSD-95 & DLGAP1/GKAP
• interacts with DBNL
• interacts (via PDZ domain) with PROSAPIP1 (via C-terminus) (putative)
• interacts with BAIAP2

Structure

• contains 6 ANK repeats
• contains 1 PDZ domain (DHR domain)
• contains 1 SAM (sterile alpha motif) domain
• contains 1 SH3 domain

Compartment

• cytoplasm (putative)
• cell junction,
• synapse, postsynaptic cell membrane, postsynaptic density (putative)

Alternative splicing

named isoforms=2

Expression

• expressed in the cerebral cortex & the cerebellum

Pathology

• chromosomal translocation t(12;22)(q24.1;q13.3) involving SHANK3 with APPL2/DIP13B 22q13.3 is responsible for the clinical features of chromosome 22q13.3 deletion syndrome
• defects in SHANK3 are a cause of autism spectrum disorders

More general terms

• SH3 & multiple anykrin repeat domains (Shank) protein
• ankyrin repeat domain protein (ANKRD)
• phosphoprotein

Database

• OMIM: https://mirror.omim.org/entry/606230
• OMIM: https://mirror.omim.org/entry/606232
• UniProt: http://www.uniprot.org/uniprot/Q9BYB0.html