HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
BEST1
bestrophin 1
Chromosome 11 Β· 11q12.3
NCBI Gene: 7439Ensembl: ENSG00000167995.17HGNC: HGNC:12703UniProt: A0A0C4DGE9
196PubMed Papers
24Diseases
0Drugs
325Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
transepithelial chloride transportprotein complex oligomerizationchloride transportchloride channel complexvitelliform macular dystrophy 2autosomal recessive bestrophinopathyBest vitelliform macular dystrophyautosomal dominant vitreoretinochoroidopathy
✦AI Summary

BEST1 encodes bestrophin 1, a calcium-activated anion channel located on chromosome 11 that mediates chloride and bicarbonate transport across cell membranes 123. The protein exists in a partially open conformation, permitting regulated anion movement 4. Beyond its canonical channel function in epithelial ion transport, BEST1 participates in calcium-dependent neurotransmitter release, including glutamate and GABA from glial cells, contributing to synaptic plasticity regulation and memory acquisition processes. BEST1 mutations cause a spectrum of inherited retinal diseases (IRDs), predominantly bestrophinopathy, vitelliform macular dystrophy, and retinitis pigmentosa 50 5. Best disease, the most common BEST1-associated condition, presents with characteristic egg-yellow fundus appearance and abnormal electrooculogram despite normal electroretinogram 6. Genetic studies demonstrate BEST1 variants account for approximately 6% of macular and cone/cone-rod dystrophies in large cohorts 7, ranking among the five most frequent IRD genes 8. Both autosomal dominant and recessive inheritance patterns occur 9. Given retinal tissue's accessibility and the established pathophysiology, BEST1 represents a promising target for emerging gene and cell-based therapeutic interventions 10.

Sources cited
1
BEST1 is a calcium-activated anion channel that transports chloride and bicarbonate
PMID: 11904445
2
BEST1 is a calcium-activated anion channel that transports chloride and bicarbonate
PMID: 12907679
3
BEST1 is a calcium-activated anion channel that transports chloride and bicarbonate
PMID: 18179881
4
BEST1 exists in a partially open conformation allowing regulated anion movement
PMID: 35789156
5
Best disease (BEST1-associated) presents with egg-yellow fundus and abnormal electrooculogram with normal electroretinogram
PMID: 31277871
6
BEST1 mutations cause bestrophinopathy, vitelliform macular dystrophy, and retinitis pigmentosa 50
PMID: 38278208
7
BEST1 variants account for approximately 6% of macular and cone/cone-rod dystrophies
PMID: 35260635
8
BEST1 is among the five most common genes causing inherited retinal disease
PMID: 38219857
9
BEST1 mutations display both autosomal dominant and recessive inheritance patterns in macular and cone/cone-rod dystrophies
PMID: 29555955
10
BEST1-associated bestrophinopathy is amenable to gene and cell-based therapies
PMID: 26388462
Disease Associationsβ“˜24
vitelliform macular dystrophy 2Open Targets
0.84Strong
autosomal recessive bestrophinopathyOpen Targets
0.82Strong
Best vitelliform macular dystrophyOpen Targets
0.79Strong
autosomal dominant vitreoretinochoroidopathyOpen Targets
0.77Strong
retinitis pigmentosa 50Open Targets
0.75Strong
retinitis pigmentosaOpen Targets
0.68Moderate
Retinal dystrophyOpen Targets
0.58Moderate
BEST1-related dominant retinopathyOpen Targets
0.55Moderate
Stargardt diseaseOpen Targets
0.51Moderate
neurodegeneration with brain iron accumulation 9Open Targets
0.46Moderate
adult-onset foveomacular vitelliform dystrophyOpen Targets
0.46Moderate
Macular dystrophyOpen Targets
0.46Moderate
isolated macular dystrophyOpen Targets
0.43Moderate
retinopathyOpen Targets
0.41Moderate
microphthalmiaOpen Targets
0.38Weak
vitelliform macular dystrophyOpen Targets
0.37Weak
MRCS syndromeOpen Targets
0.37Weak
nanophthalmiaOpen Targets
0.37Weak
severe early-childhood-onset retinal dystrophyOpen Targets
0.35Weak
microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2Open Targets
0.33Weak
Bestrophinopathy, autosomal recessiveUniProt
Macular dystrophy, vitelliform, 2UniProt
Retinitis pigmentosa 50UniProt
VitreoretinochoroidopathyUniProt
Pathogenic Variants325
NM_004183.4(BEST1):c.73C>T (p.Arg25Trp)Pathogenic
not provided|Vitelliform macular dystrophy 2|Retinal dystrophy
β˜…β˜…β˜†β˜†2026β†’ Residue 25
NM_004183.4(BEST1):c.653G>A (p.Arg218His)Pathogenic
not provided|Macular dystrophy|Vitelliform macular dystrophy 2|Retinal dystrophy
β˜…β˜…β˜†β˜†2026β†’ Residue 218
NM_004183.4(BEST1):c.604C>T (p.Arg202Trp)Pathogenic
not provided|Retinal dystrophy|Autosomal recessive bestrophinopathy
β˜…β˜…β˜†β˜†2026β†’ Residue 202
NM_004183.4(BEST1):c.821C>G (p.Pro274Arg)Pathogenic
not provided|BEST1-related disorder|Retinal disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 274
NM_004183.4(BEST1):c.900G>C (p.Glu300Asp)Pathogenic
not provided|Retinal dystrophy
β˜…β˜…β˜†β˜†2026β†’ Residue 300
NM_004183.4(BEST1):c.728C>T (p.Ala243Val)Pathogenic
Vitelliform macular dystrophy 2|not provided|Retinal dystrophy|Autosomal dominant vitreoretinochoroidopathy|Vitelliform macular dystrophy 1|Retinal disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 243
NM_004183.4(BEST1):c.388C>A (p.Arg130Ser)Pathogenic
not provided|Autosomal recessive bestrophinopathy|BEST1-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 130
NM_004183.4(BEST1):c.652C>T (p.Arg218Cys)Pathogenic
not provided|Vitelliform macular dystrophy 2|Autosomal recessive bestrophinopathy;Autosomal dominant vitreoretinochoroidopathy;Vitelliform macular dystrophy 2;Retinitis pigmentosa 50|Retinal dystrophy
β˜…β˜…β˜†β˜†2026β†’ Residue 218
NM_004183.4(BEST1):c.61C>G (p.Leu21Val)Pathogenic
not provided|Vitelliform macular dystrophy 2
β˜…β˜…β˜†β˜†2025β†’ Residue 21
NM_004183.4(BEST1):c.903T>G (p.Asp301Glu)Pathogenic
not provided|Retinal dystrophy
β˜…β˜…β˜†β˜†2025β†’ Residue 301
NM_004183.4(BEST1):c.934G>A (p.Asp312Asn)Pathogenic
not provided|Retinal dystrophy
β˜…β˜…β˜†β˜†2025β†’ Residue 312
NM_004183.4(BEST1):c.436_437delinsAA (p.Ala146Lys)Pathogenic
Vitelliform macular dystrophy 2|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 146
NM_004183.4(BEST1):c.919A>G (p.Thr307Ala)Likely pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 307
NM_004183.4(BEST1):c.89A>G (p.Lys30Arg)Pathogenic
not provided|Vitelliform macular dystrophy 2|Retinal dystrophy
β˜…β˜…β˜†β˜†2025β†’ Residue 30
NM_004183.4(BEST1):c.1470_1471del (p.His490fs)Pathogenic
Vitelliform macular dystrophy 2|not provided|Retinal dystrophy|Autosomal recessive bestrophinopathy|BEST1-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 490
NM_004183.4(BEST1):c.920C>T (p.Thr307Ile)Pathogenic
not provided|Retinal dystrophy
β˜…β˜…β˜†β˜†2025β†’ Residue 307
NM_004183.4(BEST1):c.914T>C (p.Phe305Ser)Pathogenic
not provided|Retinal dystrophy|Retinal disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 305
NM_004183.4(BEST1):c.241G>A (p.Val81Met)Pathogenic
Vitelliform macular dystrophy 2|Retinal dystrophy|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 81
NM_004183.4(BEST1):c.286C>G (p.Gln96Glu)Pathogenic
Retinal dystrophy|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 96
NM_004183.4(BEST1):c.103G>A (p.Glu35Lys)Pathogenic
not provided|Autosomal recessive bestrophinopathy|BEST1-related disorder|Retinal dystrophy
β˜…β˜…β˜†β˜†2025β†’ Residue 35
View on ClinVar β†—
Related Genes
RLBP1Protein interaction87%EYSProtein interaction86%MYRFProtein interaction83%PRCDProtein interaction82%CRXProtein interaction79%ROM1Protein interaction79%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
55%
Lung
47%
Ovary
43%
Heart
19%
Liver
10%
Gene Interaction Network
Click a node to explore
BEST1RLBP1EYSMYRFPRCDCRXROM1
PROTEIN STRUCTURE
Preparing viewer…
PDB8D1I Β· 1.82 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.28LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.02 [0.82–1.28]
RankingsWhere BEST1 stands among ~20K protein-coding genes
  • #2,157of 20,598
    Most Researched196 Β· top quartile
  • #184of 5,498
    Most Pathogenic Variants325 Β· top 5%
  • #13,484of 17,882
    Most Constrained (LOEUF)1.28
Genes detectedBEST1
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.
PMID: 38219857
Ophthalmol Retina Β· 2024
1.00
2
The electrooculogram.
PMID: 31277871
Handb Clin Neurol Β· 2019
0.90
3
PMID: 20301590
0.80
4
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
PMID: 29555955
Sci Rep Β· 2018
0.70
5
Chloride channelopathies.
PMID: 19708126
Biochim Biophys Acta Β· 2009
0.64