SHANK2

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]

Description

SH3 and multiple ankyrin repeat domains 2

Tissue specificity

Tissue enhanced (choroid plexus)

Subcell location

Nuclear speckles, Vesicles, Plasma membrane

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

11 (70467854 - 71252577)

Ensembl ID

ENSG00000162105  (ver. 103.38)

Orthologs

Mouse Shank2: ENSMUSG00000037541

UniProt

Q9UPX8

neXtProt

NX_Q9UPX8

Human splice variants
Mouse splice variants

Protein structure