ID:SHAN2_HUMAN DESCRIPTION: RecName: Full=SH3 and multiple ankyrin repeat domains protein 2; Short=Shank2; AltName: Full=Cortactin-binding protein 1; Short=CortBP1; AltName: Full=Proline-rich synapse-associated protein 1; 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. SUBUNIT: Interacts with CTTN/cortactin SH3 domain, DLGAP1/GKAP and alpha-latrotoxin receptor 1. Is part of a complex with DLG4/PSD-95 and DLGAP1/GKAP. Interacts with GRID2, SLC9A3, CFTR and PLCB3. Interacts with DBNL (By similarity). Interacts with DNM2. Interacts with BAIAP2. INTERACTION: P46108:CRK; NbExp=2; IntAct=EBI-1570571, EBI-886; P62993:GRB2; NbExp=2; IntAct=EBI-1570571, EBI-401755; P16333:NCK1; NbExp=6; IntAct=EBI-1570571, EBI-389883; P27986:PIK3R1; NbExp=2; IntAct=EBI-1570571, EBI-79464; P19174:PLCG1; NbExp=4; IntAct=EBI-1570571, EBI-79387; SUBCELLULAR LOCATION: Cytoplasm (By similarity). Cell junction, synapse (By similarity). Cell junction, synapse, postsynaptic cell membrane, postsynaptic density (By similarity). Note=Cytoplasm, postsynaptic density of neuronal cells (By similarity). TISSUE SPECIFICITY: Isoform 3 is present in epithelial colonic cells (at protein level). DOMAIN: The PDZ domain is required for interaction with GRID2, PLCB3, CFTR and SLC9A3 (By similarity). DISEASE: Defects in SHANK2 are a cause of susceptibility to autism type 17 (AUTS17) [MIM:613436]. 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. SIMILARITY: Belongs to the SHANK family. SIMILARITY: Contains 1 PDZ (DHR) domain. SIMILARITY: Contains 1 SAM (sterile alpha motif) domain. SIMILARITY: Contains 1 SH3 domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9UPX8
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
