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Tbio
BEST1
Bestrophin-1

Protein Summary
Description
Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate. This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Nov 2008]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000378043
  • ENSP00000367282
  • ENSG00000167995
  • ENST00000449131
  • ENSP00000399709

Symbol
  • VMD2
  • ARB
  • BMD
  • BEST
  • RP50
  • VMD2
  • TU15B
  • Best1V1Delta2
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
cellular component
0.74
cell type or tissue
0.7
cell line
0.63
biological term
0.59
tissue sample
0.59


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 486.19   (req: < 5)
Gene RIFs: 152   (req: <= 3)
Antibodies: 220   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 486.19   (req: >= 5)
Gene RIFs: 152   (req: > 3)
Antibodies: 220   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 10
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0