BEST4, Official Symbol BEST4provided by HGNC Official Full Name bestrophin 4provided by HGNC Primary source HGNC:HGNC:17106 See related Ensembl:ENSG00000142959 MIM:607336; AllianceGenome:HGNC:17106 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 VMD2L2 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 4 gene is predominantly expressed in the colon. [provided by RefSeq, Jul 2008] Expression Biased expression in colon (RPKM 7.6), duodenum (RPKM 2.6) and 2 other tissues See more Orthologs all