Biology:Bestrophin-2
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
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]
References
- ↑ "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. doi:10.1038/sj.ejhg.5200796. PMID 12032738.
- ↑ "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. doi:10.1073/pnas.0604505103. PMID 16912113. Bibcode: 2006PNAS..10312929P.
- ↑ 3.0 3.1 "Entrez Gene: BEST2 bestrophin 2". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54831.
- ↑ "Functional roles of bestrophins in ocular epithelia". Prog Retin Eye Res 28 (3): 206–226. May 2009. doi:10.1016/j.preteyeres.2009.04.004. PMID 19398034.
External links
- Human BEST2 genome location and BEST2 gene details page in the UCSC Genome Browser.
Further reading
- Ota T; Suzuki Y; Nishikawa T et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–45. doi:10.1038/ng1285. PMID 14702039.
- Tsunenari T; Sun H; Williams J et al. (2003). "Structure-function analysis of the bestrophin family of anion channels". J. Biol. Chem. 278 (42): 41114–41125. doi:10.1074/jbc.M306150200. PMID 12907679.
- "The vitelliform macular dystrophy protein defines a new family of chloride channels". Proc. Natl. Acad. Sci. U.S.A. 99 (6): 4008–4013. 2002. doi:10.1073/pnas.052692999. PMID 11904445. Bibcode: 2002PNAS...99.4008S.
- Marquardt A; Stöhr H; Passmore LA et al. (1998). "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. doi:10.1093/hmg/7.9.1517. PMID 9700209.
- Suzuki Y; Yoshitomo-Nakagawa K; Maruyama K et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–156. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–174. 1994. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
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