Bestrophin-2

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BEST2
Identifiers
AliasesBEST2, VMD2L1, bestrophin 2
External IDsOMIM: 607335 MGI: 2387588 HomoloGene: 41187 GeneCards: BEST2
Gene location (Human)
Chromosome 19 (human)
Chr.Chromosome 19 (human)[1]
Chromosome 19 (human)
Genomic location for BEST2
Genomic location for BEST2
Band19p13.13Start12,751,702 bp[1]
End12,758,458 bp[1]
RNA expression pattern
PBB GE BEST2 207432 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_017682

NM_001130194

RefSeq (protein)

NP_060152

NP_001123666

Location (UCSC)Chr 19: 12.75 – 12.76 MbChr 8: 85.01 – 85.01 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Bestrophin-2 is a protein that in humans is encoded by the BEST2 gene.[5][6][7]

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.[7][8]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000039987 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000052819 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ 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.
  7. ^ a b "Entrez Gene: BEST2 bestrophin 2".
  8. ^ 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.

External links[edit]

Further reading[edit]