BEST3

BEST3 belongs to the bestrophin family of anion channels, which includes BEST1 (MIM 607854), the gene mutant in vitelliform macular dystrophy (VMD; MIM 153700), and 2 other BEST1-like genes, BEST2 (MIM 607335) and BEST4 (MIM 607336). Bestrophins are transmembrane (TM) proteins that share a homology region containing a high content of aromatic residues, including an invariant arg-phe-pro (RFP) motif. The bestrophin genes share a conserved gene structure, with almost identical sizes of the 8 RFP-TM domain-encoding exons and highly conserved exon-intron boundaries. Each of the 4 bestrophin genes has a unique 3-prime end of variable length (Stohr et al., 2002 [PubMed 12032738]; Tsunenari et al., 2003 [PubMed 12907679]). [supplied by OMIM, Mar 2008]

Description

Bestrophin 3

Tissue specificity

Group enriched (skeletal muscle, tongue)

Predicted location

Intracellular, Membrane

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted membrane proteins
Transporters

Chromosome

12 (69643360 - 69699476)

Ensembl ID

ENSG00000127325  (ver. 103.38)

Orthologs

Mouse Best3: ENSMUSG00000020169

UniProt

Q8N1M1

neXtProt

NX_Q8N1M1

Human splice variants
Mouse splice variants

Protein structure