The Full Wiki

More info on BEST2

BEST2: Wikis

Advertisements

Note: Many of our articles have direct quotes from sources you can cite, within the Wikipedia article! This article doesn't yet, but we're working on it! See more info or our list of citable articles.

Encyclopedia

From Wikipedia, the free encyclopedia

edit
Bestrophin 2
Identifiers
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
Orthologs
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]

References

  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". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54831.  

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.  
Advertisements

Advertisements






Got something to say? Make a comment.
Your name
Your email address
Message