Entrez gene ID | | 22941 |
Official gene symbol | | SHANK2 |
Full name | | SH3 and multiple ankyrin repeat domains 2 |
Aliases | | ,CORTBP1,CTTNBP1,ProSAP1,SHANK,SPANK-3, |
Gene summary | | 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 (PSD). Shank proteins contain multiple domains for protein-protein interaction, including ankyrin repeats, an SH3 domain, a PSD-95/Dlg/ZO-1 domain, a sterile alpha motif domain, and a proline-rich region. 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 PSDs of adult and developing brain. Two alternative splice variants, encoding distinct isoforms, are reported. Additional splice variants exist but their full-length nature has not been determined. [provided by RefSeq] |
Location | | Chromosome: 11 Locus: 11q13.3-q13.4 |
Gene position | | 70935808 - 70313961 Map Viewer |
Gene orientation | | minus |
Gene size | | 621848 bp |
Gene sequence |
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OMIM ID | | 603290 |
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