{"symbol":"BEST2","synonyms":["VMD2L1"],"name":"bestrophin 2","description":"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\u0027 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. [provided by RefSeq, Jul 2008]","ncbiEntrezGeneId":54831,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/54831","proteins":[{"symbol":"BEST2_HUMAN","href":"/api/1.0/protein/BEST2_HUMAN"}],"hgncRootFamilies":[{"name":"Ion channels","href":"/api/1.0/gene_family/Ion+channels"}]}