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Bestrophin 2
Symbols BEST2; FLJ20132; VMD2L1
External IDs OMIM607335 MGI2387588 HomoloGene41187 GeneCards: BEST2 Gene
RNA expression pattern
PBB GE BEST2 207432 at tn.png
More reference expression data
Species Human Mouse
Entrez 54831 212989
Ensembl ENSG00000039987 ENSMUSG00000052819
UniProt Q8NFU1 Q6H1U9
RefSeq (mRNA) NM_017682 NM_145388
RefSeq (protein) NP_060152 NP_663363
Location (UCSC) Chr 19:
12.72 - 12.73 Mb
Chr 8:
87.9 - 87.9 Mb
PubMed search [1] [2]

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

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 retinal pigment epithelium and colon.[3]


  1. ^ Stohr H, Marquardt A, Nanda I, Schmid M, Weber BH (May 2002). "Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family". Eur J Hum Genet 10 (4): 281-4. doi:10.1038/sj.ejhg.5200796. PMID 12032738.  
  2. ^ Pifferi S, Pascarella G, Boccaccio A, Mazzatenta A, Gustincich S, Menini A, Zucchelli S (Aug 2006). "Bestrophin-2 is a candidate calcium-activated chloride channel involved in olfactory transduction". Proc Natl Acad Sci U S A 103 (34): 12929-34. doi:10.1073/pnas.0604505103. PMID 16912113.  
  3. ^ a b "Entrez Gene: BEST2 bestrophin 2".  

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): 40–5. 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): 41114–25. doi:10.1074/jbc.M306150200. PMID 12907679.  
  • Sun H, Tsunenari T, Yau KW, Nathans J (2002). "The vitelliform macular dystrophy protein defines a new family of chloride channels.". Proc. Natl. Acad. Sci. U.S.A. 99 (6): 4008–13. doi:10.1073/pnas.052692999. PMID 11904445.  
  • 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): 1517–25. 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): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.  
  • Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.  


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