BEST2

Bestrophin 2
Identifiers
Symbols	BEST2 ; VMD2L1
External IDs	OMIM: 607335 MGI: 2387588 HomoloGene: 41187 GeneCards: BEST2 Gene
Gene ontology Molecular function • molecular_function • chloride channel activity Cellular component • plasma membrane • cilium • chloride channel complex Biological process • sensory perception of smell • biological_process • membrane depolarization • chloride transmembrane transport Sources: Amigo / QuickGO
RNA expression pattern
File:PBB GE BEST2 207432 at tn.png
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	54831	212989
Ensembl	ENSG00000039987	ENSMUSG00000052819
UniProt	Q8NFU1	Q8BGM5
RefSeq (mRNA)	NM_017682	NM_001130194
RefSeq (protein)	NP_060152	NP_001123666
Location (UCSC)	Chr 19: 12.75 – 12.76 Mb	Chr 8: 85.01 – 85.01 Mb
PubMed search	[1]	[2]

Bestrophin-2 is a protein that in humans is encoded by the BEST2 gene.

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.