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

• O76090
• A8K0W6
• B7Z3J8
• B7Z736
• O75904
• Q53YQ9
• Q8IUR9
• Q8IZ80

Gene Name

• BEST1

Ensembl ID

• ENST00000378043
• ENSP00000367282
• ENSG00000167995
• ENST00000449131
• ENSP00000399709

Symbol

• VMD2
• ARB
• BMD
• BEST
• RP50
• VMD2
• TU15B
• Best1V1Delta2

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

Protein Classes

PANTHER Classes

Protein / Transporter / Ion Channel / Anion Channel / Bestrophin-1

DTO Classes

Protein / Ion Channel / Anion Channel-forming Bestrophin (Bestrophin) Family / Bestrophin-1

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