Aliases for BEST2 Gene
External Ids for BEST2 Gene
Previous HGNC Symbols for BEST2 Gene
Previous GeneCards Identifiers for BEST2 Gene
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]
GeneCards Summary for BEST2 Gene
BEST2 (Bestrophin 2) is a Protein Coding gene. Diseases associated with BEST2 include Vitelliform Macular Dystrophy and Vitreoretinochoroidopathy. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. Gene Ontology (GO) annotations related to this gene include chloride channel activity. An important paralog of this gene is BEST4.
UniProtKB/Swiss-Prot Summary for BEST2 Gene
Forms calcium-sensitive chloride channels. Permeable to bicarbonate.