SHANK2

(SH3/ankyrin domain gene 2)

 

  • Alias                                 (According to NCBI)

 
  • CortBP1,
  • ProSAP1,
  • Spank-3
  • KIAA1022
  • CORTBP1
  • cortactin-binding protein 1;
  • proline rich synapse associated protein 1
  • 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.
  • Location: 1q41
  • Size: 455609 bp
  • exons: Transcript variant1: 17
  •            Transcript variant2: 4
  •            Transcript variant3: 4
  •            Transcript variant4: 8
  • DNA sequence (Human): NC_005100.2

  • CGH (1q41):  Losses (%) -0.6   Gain (%)  11.7  

  • Mutations and SNPs (According to HGMD and SNP)

 

 
  • m-RNA                       (According to NCBI and CGAP)

 

  • mRNA sequence (Human):  Transcript variant1: NM_201350.1

  •                                           Transcript variant2: NM_001004133.1

  •                                           Transcript variant3: NM_133440.1

  •                                           Transcript variant4: NM_133441.1

  • Size: Transcript variant1: 5625 bp

  •          Transcript variant2: 4636 bp

  •          Transcript variant3: 7688 bp

  •          Transcript variant4: 8182 bp

  • cDNA libraries:

  • Size: 1474 amino acids: 158684 Da
  • Catalytic activity:

  • Subcellular location: Cytoplasm. Cell junction, synapse. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Cell projection, growth cone. Note=Cytoplasm, postsynaptic density of neuronal cells. Colocalizes with cortactin in growth cones in differentiating hippocampal neurons.

  • Protein domains

     

  • Protein sequence (Human): Q9QX74

  • Homologous genes:  105965

  • 2D PAGE:

  • 3D Structure:  

  • PTM:

 

  • Pathway:

                        

  • Protein interactions: SHANK2
  • Clinical                            (According to OMIM, PubMed)