Identity
HGNC
LOCATION
11q12.3
LOCUSID
ALIAS
ARB,BEST,BMD,Best1V1Delta2,RP50,TU15B,VMD2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 7439
MIM: 607854
HGNC: 12703
Ensembl: ENSG00000167995
Variants:
dbSNP: 7439
ClinVar: 7439
TCGA: ENSG00000167995
COSMIC: BEST1
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Transmembrane transport of small molecules | REACTOME | R-HSA-382551 |
| Ion channel transport | REACTOME | R-HSA-983712 |
| Stimuli-sensing channels | REACTOME | R-HSA-2672351 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36908234 | 2024 | Typical best vitelliform dystrophy secondary to biallelic variants in BEST1. | 0 |
| 37717827 | 2024 | The Retinal Phenotype Associated with the p.Pro101Thr BEST1 Variant. | 0 |
| 36908234 | 2024 | Typical best vitelliform dystrophy secondary to biallelic variants in BEST1. | 0 |
| 37717827 | 2024 | The Retinal Phenotype Associated with the p.Pro101Thr BEST1 Variant. | 0 |
| 36378562 | 2023 | BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity. | 1 |
| 36450205 | 2023 | Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations. | 4 |
| 37747403 | 2023 | Comprehensive Genetic Analysis Unraveled the Missing Heritability and a Founder Variant of BEST1 in a Chinese Cohort With Autosomal Recessive Bestrophinopathy. | 0 |
| 36378562 | 2023 | BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity. | 1 |
| 36450205 | 2023 | Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations. | 4 |
| 37747403 | 2023 | Comprehensive Genetic Analysis Unraveled the Missing Heritability and a Founder Variant of BEST1 in a Chinese Cohort With Autosomal Recessive Bestrophinopathy. | 0 |
| 34327816 | 2022 | Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies. | 2 |
| 34751623 | 2022 | Clinical reassessments and whole-exome sequencing uncover novel BEST1 mutation associated with bestrophinopathy phenotype. | 0 |
| 35276535 | 2022 | Self-organization and surface properties of hBest1 in models of biological membranes. | 1 |
| 35806438 | 2022 | Impaired Bestrophin Channel Activity in an iPSC-RPE Model of Best Vitelliform Macular Dystrophy (BVMD) from an Early Onset Patient Carrying the P77S Dominant Mutation. | 1 |
| 35973442 | 2022 | Genetic and clinical features of BEST1-associated retinopathy based on 59 Chinese families and database comparisons. | 1 |
Citation
Dessen P
BEST1 (bestrophin 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60739/best1-(bestrophin-1)
