Recombinant Human SH3 and multiple ankyrin repeat domains protein 2 (SHANK2), Truncated

Uniprot Id

Q9UPX8

Target Species

Human

Target Name

SHANK2

Target Full Name

SH3 and multiple ankyrin repeat domains protein 2

Target 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.

Target Involvement

Autism 17 (AUTS17)

Target Subcellular Location

Apical cell membrane. Cytoplasm. Cell junction, synapse. Cell junction, synapse, postsynaptic density. Cell projection, growth cone. Cell projection, dendritic spine.

Target Protein Families

SHANK family

Target Tissue Specificity

Isoform 3 is present in epithelial colonic cells (at protein level).

Target Synonyms

SHANK2; CORTBP1; KIAA1022; PROSAP1; SH3 and multiple ankyrin repeat domains protein 2; Shank2; Cortactin-binding protein 1; CortBP1; Proline-rich synapse-associated protein 1

Target Background

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.