SHANK2

Also known as AUTS17, CORTBP1, CTTNBP1, ProSAP1, SHANK, SPANK-3, SH3 and multiple ankyrin repeat domains 2

SH3 and multiple ankyrin repeat domains protein 2 is a protein that in humans is encoded by the SHANK2 gene. Two alternative splice variants, encoding distinct isoforms, are reported. Additional splice variants exist but their full-length nature has not been determined.

Gene data

SHANK2

Name: SH3 and multiple ankyrin repeat domains 2
Type: protein-coding
Aliases: AUTS17, CORTBP1, CTTNBP1, ProSAP1, SHANK, SPANK-3

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 of excitatory synapses. Shank proteins contain multiple domains for protein-protein interaction, including ankyrin repeats, and an SH3 domain. 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 postsynaptic densities of the adult and developing brain. Alterations in the encoded protein may be associated with susceptibility to autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014].

via MyGene.info