BEST2

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Bestrophin 2
Identifiers
Symbols BEST2 ; 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 Q8BGM5
RefSeq (mRNA) NM_017682 NM_001130194
RefSeq (protein) NP_060152 NP_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[edit]

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[edit]

  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. 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): 12929–12934. doi:10.1073/pnas.0604505103. PMC 1568948. PMID 16912113. 
  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. doi:10.1016/j.preteyeres.2009.04.004. PMC 2740978. PMID 19398034. 

Further reading[edit]