GJB2

                                                                                        (Gap junction beta-2 protein)

  • Alias                                 (According to NCBI)

 
  • CX26
  • DFNA3
  • DFNB1 
  • HID 
  • KID
  • NSRD1
  • PPK
  • deafness, autosomal dominant 3
  • deafness, autosomal recessive 1 
  • gap junction protein, beta 2, 26kD (connexin 26)
  • gap junction protein, beta 2, 26kDa (connexin 26)
  • Gap junction beta-2 protein (Connexin 26) (Cx26)

  • Gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels. Proteins, called connexins, purified from fractions of enriched gap junctions from different tissues differ. The connexins are designated by their molecular mass. Another system of nomenclature divides gap junction proteins into 2 categories, alpha and beta, according to sequence similarities at the nucleotide and amino acid levels.
  • Location: 13q11-q12
  • Orientation: Minus strand
  • Size: 5,426 bases
  • 2 Exons
  • DNA Sequence: NT_024524

              

  • CGH (13q11-12):  Losses (%)  -2.2 Gain (%)  0.0 

  • Mutations and SNPs (According to HGMD and SNP)
  • m-RNA                       (According to NCBI and CGAP)

 
  • Size: 226 amino acids; 26201 Da
  • Sub cellular location: Integral membrane protein
  • Protein domains:

             

  • Protein sequence: P29033
  • Homologous genes: GJB-2
  • 2D PAGE:
  • 3D Structure:
  • PTM: GJB2
  • Pathways and interactions (According to BioCarta, DIP)
  • Pathways:
  • Interactions:
  • Clinical                            (According to OMIM, PubMed)