BEST2, Official Symbol BEST2provided by HGNC Official Full Name bestrophin 2provided by HGNC Primary source HGNC:HGNC:17107 See related Ensembl:ENSG00000039987 MIM:607335; AllianceGenome:HGNC:17107 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as VMD2L1 Summary 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 retinal pigment epithelium and colon. [provided by RefSeq, Jul 2008] Expression Restricted expression toward colon (RPKM 11.0) See more Orthologs mouse all