BEST3 - bestrophin 3 Gene

Also Known as VMD2L3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 144453

About BEST3

Cytogenetic location: 12q15 Genomic coordinates (GRCh38): 12:69,643,508-69,699,303 (from NCBI)

This gene has 12 transcripts (splice variants), 222 orthologues and 3 paralogues. Biased expression in brain (RPKM 1.2), testis (RPKM 0.5) and 4 other tissues.

Summary

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]

BEST3 Products (6)

mRNA Protein Name
NM_001282613.2 NP_001269542.1 bestrophin-3 isoform 3
NM_001282614.2 NP_001269543.1 bestrophin-3 isoform 4
NM_001282615.2 NP_001269544.1 bestrophin-3 isoform 5
NM_001282616.2 NP_001269545.1 bestrophin-3 isoform 5
NM_032735.3 NP_116124.2 bestrophin-3 isoform 1
NM_152439.4 NP_689652.2 bestrophin-3 isoform 2

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables intracellularly calcium-gated chloride channel activity IDA
IDA: Inferred from direct assay
12907679 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BEST3 Protein Structure

Bestrophin

Bestrophin: Bestrophin, RFP-TM, chloride channel (1 - 317)

  • 0
  • 200
  • 400
  • 600
  • 668 a.a.
Protein Preferred Names Protein Names

bestrophin-3

  • vitelliform macular dystrophy 2-like 3

Related Diseases

Diseases Alias
Vitelliform Macular Dystrophy

  • Best Disease

  • Juvenile-Onset Vitelliform Macular Dystrophy

  • Macular Dystrophy, Vitelliform

  • Best Macular Dystrophy

  • Vitelliform Dystrophy
Viral Esophagitis
Vitreoretinochoroidopathy

  • Autosomal Dominant Vitreoretinochoroidopathy

  • Advirc

  • Vitreoretinochoroidopathy With Microcornea, Glaucoma, And Cataract

  • Vitreoretinochoroidopathy, Autosomal Dominant, With Nanophthalmos

  • Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 2

  • Vitreoretinochoroidopathy Dominant

  • VRCP

  • Vitreoretinochoroidopathy, Autosomal Dominant

  • Vrcp Autosomal Dominant

  • Vitreoretinochoroidopathy Autosomal Dominant With Nanophthalmos, Microcornea, Rod-Cone Dystrophy, Cataract And Posterior Staphyloma

  • Vitreoretinochoroidopathy With Microcornea-Glaucoma-Cataract
Bestrophinopathy, Autosomal Recessive

  • Bestrophinopathy

  • Autosomal Recessive Bestrophinopathy

  • ARB

  • Bestrophinopathies

  • Retinopathy, Burgess-Black Type

  • Retinopathy Burgess-Black Type
Hereditary Retinal Dystrophy

  • Hereditary Retinal Dystrophies
Fundus Dystrophy

  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS01476 BEST3 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21498 Best3 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28016 Best3 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris BEST3 VGNC VGNC:38436
Bos taurus BEST3 VGNC VGNC:26473
Rattus norvegicus BEST3 RGD RGD:1305439
Macaca mulatta BEST3 VGNC VGNC:70331
Mus musculus BEST3 MGD MGI:3580298
Others BEST3 NCBI