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Tbio
BEST2
Bestrophin-2

Protein Summary
Description
Forms calcium-sensitive chloride channels. Permeable to bicarbonate. This gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3' ends. Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 2 gene is mainly expressed in the retinal pigment epithelium and colon. [provided by RefSeq, Jul 2008]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000042931
  • ENSP00000042931
  • ENSG00000039987
  • ENST00000549706
  • ENSP00000448310
  • ENST00000553030
  • ENSP00000447203

Symbol
  • VMD2L1
  • VMD2L1
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
gene perturbation
0.79
molecular function
0.53
cellular component
0.52
cell type or tissue
0.49
kinase perturbation
0.48


Related Tools
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for 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
Thumbnail image for 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
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
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: 30.33   (req: < 5)
Gene RIFs: 7   (req: <= 3)
Antibodies: 133   (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: 30.33   (req: >= 5)
Gene RIFs: 7   (req: > 3)
Antibodies: 133   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 3
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 (6)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
mathematical ability
2
2
2
82.5
reticulocyte measurement
1
1
1
68.8
mean corpuscular volume
1
1
1
54.4
HbA1c measurement
1
1
1
44.2
cathepsin L1 measurement
1
1
1
42.3
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
mathematical ability
2
82.5
reticulocyte measurement
1
68.8
mean corpuscular volume
1
54.4
HbA1c measurement
1
44.2
cathepsin L1 measurement
1
42.3
Orthologs (9)
1 – 5 of 9
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
bestrophin 2
VGNC:2096
455751
Mouse
MGI:2387588
212989
Rat
RGD:1305377
364973
Dog
bestrophin 2
VGNC:38435
100856525
Cow
bestrophin 2
VGNC:26472
529463
Species
Name
OMA
EggNOG
Inparanoid
Chimp
bestrophin 2
Mouse
Rat
Dog
bestrophin 2
Cow
bestrophin 2
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-Q8NFU1-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (4)
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
Gene Ontology Terms (6)
Items per page:
10
1 – 1 of 1
GO Term
Evidence
Assigned by
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
Protein-Protein Interactions (70)
1 – 10 of 70
ANO1
Tclin
Family:  IC
Novelty:  0.00143722
Score:  0.866
Data Source:  STRINGDB
ANO2
Tchem
Family:  IC
Novelty:  0.01239394
Score:  0.832
Data Source:  STRINGDB
CFTR
Tclin
Family:  IC
Novelty:  0.00012639
Score:  0.775
Data Source:  STRINGDB
TTYH3
Tbio
Family:  IC
Novelty:  0.21747247
Score:  0.737
Data Source:  STRINGDB
CNGA2
Tchem
Family:  IC
Novelty:  0.01050959
Score:  0.714
Data Source:  STRINGDB
CLCN1
Tbio
Family:  IC
Novelty:  0.00287764
Score:  0.708
Data Source:  STRINGDB
CLCN2
Tclin
Family:  IC
Novelty:  0.00838393
Score:  0.704
Data Source:  STRINGDB
ANO6
Tbio
Family:  IC
Novelty:  0.01288434
Score:  0.683
Data Source:  STRINGDB
ZNF764
Tdark
Family:  TF
Novelty:  0.76308829
Score:  0.664
Data Source:  STRINGDB
TTYH2
Tbio
Family:  IC
Novelty:  0.19796461
Score:  0.661
Data Source:  STRINGDB
Publication Statistics
PubMed Score  30.33

PubMed score by year
PubTator Score  22.53

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