SH3 and Multiple Ankyrin Repeat Domains 2

Alternative Names

  • SHANK2
  • Cortactin-Binding Protein 1
  • CORTBP1
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OMIM Number

603290

NCBI Gene ID

22941

Uniprot ID

Q9UPX8

Length

785,375 bases

No. of Exons

34

No. of isoforms

4

Protein Name

SH3 and multiple ankyrin repeat domains protein 2

Molecular Mass

201261 Da

Amino Acid Count

1849

Genomic Location

chr11:70,467,854-71,253,228

Gene Map Locus
11q13.3-q13.4

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_012309.5:c.2411G>ASaudi ArabiaNC_000011.10:g.70492363C>TUncertain SignificanceNG_042866.1:g.637434G>A; NM_012309.5:c.2411G>A; NP_036441.2:p.Arg804Gln782372524
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