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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


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
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: 412.7   (req: < 5)
Gene RIFs: 117   (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: 412.7   (req: >= 5)
Gene RIFs: 117   (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
GWAS Traits (1)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
eicosapentaenoic acid measurement
1
1
1
35.4
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
eicosapentaenoic acid measurement
1
35.4
Orthologs (11)
1 – 5 of 11
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
bestrophin 1
VGNC:3202
466630
Mouse
MGI:1346332
24115
Rat
RGD:1311656
293735
Dog
bestrophin 1
VGNC:38434
483791
Horse
bestrophin 1
VGNC:15815
100059901
Species
Name
OMA
EggNOG
Inparanoid
Chimp
bestrophin 1
Mouse
Rat
Dog
bestrophin 1
Horse
bestrophin 1
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-O76090-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (3)
Ion channel transport (R-HSA-983712)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 3 of 3
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Ion channel transport
Reactome
Stimuli-sensing channels
Reactome
Transport of small molecules
Name
Explore in Pharos
Explore in Source
Ion channel transport
Stimuli-sensing channels
Transport of small molecules
Protein-Protein Interactions (138)
1 – 10 of 138
ANO1
Tclin
Family: IC
Novelty: 0.00143722
Score: 0.844
Data Source: STRINGDB
RPE65
Tbio
Family: Enzyme
Novelty: 0.00147985
Score: 0.835
Data Source: STRINGDB
ANO6
Tbio
Family: IC
Novelty: 0.01288434
Score: 0.796
Data Source: STRINGDB
ANO2
Tbio
Family: IC
Novelty: 0.01239394
Score: 0.784
Data Source: STRINGDB
GLRA3
Tchem
Family: IC
Novelty: 0.0209653
Score: 0.774
Data Source: STRINGDB
GLRB
Tclin
Family: IC
Novelty: 0.01721113
Score: 0.771
Data Source: STRINGDB
RLBP1
Tbio
Novelty: 0.00526176
Score: 0.77
Data Source: STRINGDB
MYRF
Tbio
Family: TF
Novelty: 0.0075551
Score: 0.753
Data Source: STRINGDB
CFTR
Tclin
Family: IC
Novelty: 0.00012639
Score: 0.747
Data Source: STRINGDB
PRPH2
Tbio
Novelty: 0.003038
Score: 0.711
Data Source: STRINGDB
Publication Statistics
PubMed Score  412.70

PubMed score by year
PubTator Score  272.48

PubTator score by year
Patents
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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