beta-crystallin B2; beta-B2 crystallin; beta-crystallin Bp (CRYBB2, CRYB2, CRYB2A)

Function

• crystallins are the dominant structural components of the vertebrate eye lens
• homodimer/heterodimer, or complexes of higher order
• the structure of beta-crystallin oligomers seems to be stabilized through interactions between the N-terminal arms (putative)

Structure

• has a two-domain beta-structure, folded into four very similar greek key motifs
• belongs to the beta/gamma-crystallin family
• contains 4 beta/gamma crystallin greek key domains

Pathology

• defects in CRYBB2 are the cause of
  • congenital cerulean cataract type 2
  • sutural cataract with punctate & cerulean opacities
• defects in CRYBB2 are a cause of cataract Coppock-like

More general terms

• beta crystallin B
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1415
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1415
• OMIM: https://mirror.omim.org/entry/123620
• OMIM: https://mirror.omim.org/entry/601547
• OMIM: https://mirror.omim.org/entry/604219
• OMIM: https://mirror.omim.org/entry/604307
• OMIM: https://mirror.omim.org/entry/607133
• UniProt: http://www.uniprot.org/uniprot/P43320.html