BEST2

BEST2
Identifiers
Aliases	BEST2, VMD2L1, bestrophin 2
External IDs	MGI: 2387588 HomoloGene: 41187 GeneCards: BEST2
Gene ontology Molecular function • chloride channel activity Cellular component • integral component of membrane • plasma membrane • cilium • membrane • chloride channel complex Biological process • sensory perception of smell • membrane depolarization • chloride transport • ion transport • transport • chloride transmembrane transport Sources:Amigo / QuickGO
RNA expression pattern
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

54831

212989

ENSG00000039987

ENSMUSG00000052819

Q8NFU1

Q8BGM5

NM_017682

NM_001130194

NP_060152

NP_001123666

Bestrophin-2 is a protein that in humans is encoded by the 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 non-pigmented ciliary epithelium and colon.

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