SHANK2 gene

SH3 and multiple ankyrin repeat domains 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Autism 17

From UniProt:

Autism 17 (AUTS17): 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. [MIM:613436]

Cytogenetic Location: 11q13.3-q13.4, which is the long (q) arm of chromosome 11 between positions 13.3 and 13.4

Molecular Location: base pairs 70,467,854 to 71,252,724 on chromosome 11 (Homo sapiens Updated Annotation Release 109.20191205, GRCh38.p13) (NCBI)

Cytogenetic Location: 11q13.3-q13.4, which is the long (q) arm of chromosome 11 between positions 13.3 and 13.4
  • AUTS17
  • ProSAP1
  • SPANK-3