Bestrophin-2

{{Short description|Protein-coding gene in the species Homo sapiens}} {{Infobox_gene}} '''Bestrophin-2''' is a protein that in humans is encoded by the ''BEST2'' gene.<ref name="pmid12032738">{{cite journal |vauthors=Stohr H, Marquardt A, Nanda I, Schmid M, Weber BH | title = Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family | journal = Eur J Hum Genet | volume = 10 | issue = 4 | pages = 281–284 |date=May 2002 | pmid = 12032738 | doi = 10.1038/sj.ejhg.5200796 | doi-access = free }}</ref><ref name="pmid16912113">{{cite journal |vauthors=Pifferi S, Pascarella G, Boccaccio A, Mazzatenta A, Gustincich S, Menini A, Zucchelli S | title = Bestrophin-2 is a candidate calcium-activated chloride channel involved in olfactory transduction | journal = Proc Natl Acad Sci U S A | volume = 103 | issue = 34 | pages = 12929–12934 |date=Aug 2006 | pmid = 16912113 | pmc = 1568948 | doi = 10.1073/pnas.0604505103 | bibcode = 2006PNAS..10312929P | doi-access = free }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: BEST2 bestrophin 2| url = https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=54831}}</ref>

== 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.<ref name="entrez"/><ref name="pmid 19398034">{{cite journal |vauthors=Marmorstein AD, Cross HE, Peachey NS | title = Functional roles of bestrophins in ocular epithelia | journal = Prog Retin Eye Res | volume = 28 | issue = 3 | pages = 206–226 |date=May 2009 | pmid = 19398034 | doi=10.1016/j.preteyeres.2009.04.004 | pmc=2740978}}</ref>

==References== {{reflist}}

==External links== * {{UCSC gene info|BEST2}}

==Further reading== {{refbegin | 2}} *{{cite journal | author=Ota T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–45 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |name-list-style=vanc| author2=Suzuki Y | author3=Nishikawa T | display-authors=3 | last4=Otsuki | first4=Tetsuji | last5=Sugiyama | first5=Tomoyasu | last6=Irie | first6=Ryotaro | last7=Wakamatsu | first7=Ai | last8=Hayashi | first8=Koji | last9=Sato | first9=Hiroyuki | doi-access=free }} *{{cite journal | author=Tsunenari T |title=Structure-function analysis of the bestrophin family of anion channels |journal=J. Biol. Chem. |volume=278 |issue= 42 |pages= 41114–41125 |year= 2003 |pmid= 12907679 |doi= 10.1074/jbc.M306150200 | pmc=2885917 |name-list-style=vanc| author2=Sun H | author3=Williams J | display-authors=3 | last4=Cahill | first4=H | last5=Smallwood | first5=P | last6=Yau | first6=KW | last7=Nathans | first7=J |doi-access=free }} *{{cite journal |vauthors=Sun H, Tsunenari T, Yau KW, Nathans J |title=The vitelliform macular dystrophy protein defines a new family of chloride channels |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 6 |pages= 4008–4013 |year= 2002 |pmid= 11904445 |doi= 10.1073/pnas.052692999 | pmc=122639 |bibcode=2002PNAS...99.4008S |doi-access=free }} *{{cite journal | author=Marquardt A |title=Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease) |journal=Hum. Mol. Genet. |volume=7 |issue= 9 |pages= 1517–1525 |year= 1998 |pmid= 9700209 |doi=10.1093/hmg/7.9.1517 |name-list-style=vanc| author2=Stöhr H | author3=Passmore LA | display-authors=3 | last4=Krämer | first4=F | last5=Rivera | first5=A | last6=Weber | first6=BH | doi-access=free }} *{{cite journal | author=Suzuki Y |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library |journal=Gene |volume=200 |issue= 1–2 |pages= 149–156 |year= 1997 |pmid= 9373149 |doi=10.1016/S0378-1119(97)00411-3 |name-list-style=vanc| author2=Yoshitomo-Nakagawa K | author3=Maruyama K | display-authors=3 | last4=Suyama | first4=A | last5=Sugano | first5=S }} *{{cite journal |vauthors=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides |journal=Gene |volume=138 |issue= 1–2 |pages= 171–174 |year= 1994 |pmid= 8125298 |doi=10.1016/0378-1119(94)90802-8 }} {{refend}}

Category:Ion channels