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Open Access Articles- Top Results for BEST2

BEST2

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Identifiers
SymbolsBEST2 ; VMD2L1
External IDsOMIM607335 MGI2387588 HomoloGene41187 GeneCards: BEST2 Gene
RNA expression pattern
File:PBB GE BEST2 207432 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez54831212989
EnsemblENSG00000039987ENSMUSG00000052819
UniProtQ8NFU1Q8BGM5
RefSeq (mRNA)NM_017682NM_001130194
RefSeq (protein)NP_060152NP_001123666
Location (UCSC)Chr 19:
12.86 – 12.87 Mb
Chr 8:
85.01 – 85.01 Mb
PubMed search[1][2]

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.[4][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): 281–284. PMID 12032738. doi:10.1038/sj.ejhg.5200796. 
  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): 12929–12934. PMC 1568948. PMID 16912113. doi:10.1073/pnas.0604505103. 
  3. ^ a b "Entrez Gene: BEST2 bestrophin 2". 
  4. ^ Marmorstein AD, Cross HE, Peachey NS (May 2009). "Functional roles of bestrophins in ocular epithelia". Prog Retin Eye Res 28 (3): 206–226. PMC 2740978. PMID 19398034. doi:10.1016/j.preteyeres.2009.04.004. 

Further reading

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