Bestrophin-2 Explained

Bestrophin-2 is a protein that in humans is encoded by the BEST2 gene.^{[1] [2] [3]}

Function

This gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3' ends. Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 2 gene is mainly expressed in the non-pigmented ciliary epithelium and colon.^{[3] [4]}

Further reading

• Ota T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–45 . 2004 . 14702039 . 10.1038/ng1285 . vanc. Suzuki Y . Nishikawa T . 3 . Otsuki . Tetsuji . Sugiyama . Tomoyasu . Irie . Ryotaro . Wakamatsu . Ai . Hayashi . Koji . Sato . Hiroyuki . free .
• Tsunenari T . Structure-function analysis of the bestrophin family of anion channels . J. Biol. Chem. . 278 . 42 . 41114–41125 . 2003 . 12907679 . 10.1074/jbc.M306150200 . 2885917 . vanc. Sun H . Williams J . 3 . Cahill . H . Smallwood . P . Yau . KW . Nathans . J . free .
• Sun H, Tsunenari T, Yau KW, Nathans J . The vitelliform macular dystrophy protein defines a new family of chloride channels . Proc. Natl. Acad. Sci. U.S.A. . 99 . 6 . 4008–4013 . 2002 . 11904445 . 10.1073/pnas.052692999 . 122639 . 2002PNAS...99.4008S . free .
• Marquardt A . Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease) . Hum. Mol. Genet. . 7 . 9 . 1517–1525 . 1998 . 9700209 . 10.1093/hmg/7.9.1517 . vanc. Stöhr H . Passmore LA . 3 . Krämer . F . Rivera . A . Weber . BH . free .
• Suzuki Y . Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library . Gene . 200 . 1–2 . 149–156 . 1997 . 9373149 . 10.1016/S0378-1119(97)00411-3 . vanc. Yoshitomo-Nakagawa K . Maruyama K . 3 . Suyama . A . Sugano . S .
• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides . Gene . 138 . 1–2 . 171–174 . 1994 . 8125298 . 10.1016/0378-1119(94)90802-8 .

Notes and References

1. Stohr H, Marquardt A, Nanda I, Schmid M, Weber BH . Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family . Eur J Hum Genet . 10 . 4 . 281–284 . May 2002 . 12032738 . 10.1038/sj.ejhg.5200796 . free .
2. Pifferi S, Pascarella G, Boccaccio A, Mazzatenta A, Gustincich S, Menini A, Zucchelli S . Bestrophin-2 is a candidate calcium-activated chloride channel involved in olfactory transduction . Proc Natl Acad Sci U S A . 103 . 34 . 12929–12934 . Aug 2006 . 16912113 . 1568948 . 10.1073/pnas.0604505103 . 2006PNAS..10312929P . free .
3. Web site: Entrez Gene: BEST2 bestrophin 2.
4. Marmorstein AD, Cross HE, Peachey NS . Functional roles of bestrophins in ocular epithelia . Prog Retin Eye Res . 28 . 3 . 206–226 . May 2009 . 19398034 . 10.1016/j.preteyeres.2009.04.004 . 2740978.