BEST3 Gene - Bestrophin 3
Comprehensive genomic and functional analysis of BEST3, a calcium-activated chloride channel regulator.
Gene Information Card
| Symbol | BEST3 |
|---|---|
| Full Name | Bestrophin 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q14.3 |
| NCBI Gene ID | 25890 ncbi.nlm.nih.gov/gene/25890 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q8N1M1 |
| OMIM ID | 607335 |
| HGNC ID | 17106 |
| Aliases | VMD2L3, bestrophin-3 |
Description
BEST3 (bestrophin 3) is a protein-coding gene that belongs to the bestrophin family of calcium-activated chloride channels. It is involved in regulating ion transport and cellular excitability. The gene is located on chromosome 12q14.3 and encodes a 668-amino acid protein. BEST3 is expressed in various tissues, including the brain, retina, and muscle, and has been implicated in retinal degeneration and other disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinal degeneration | Altered calcium-activated chloride channel function leading to disrupted ion homeostasis in retinal pigment epithelium | ClinVar, OMIM |
| Best vitelliform macular dystrophy (possible modifier) | Variants may influence disease severity through altered channel activity | OMIM, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Retina | 8.2 | Low |
| Skeletal muscle | 15.3 | Medium |
| Heart | 6.7 | Low |
| Lung | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.5 | Moderate expression |
| SH-SY5Y | 7.8 | Low expression |
| ARPE-19 | 9.2 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100G>A (p.Gly34Arg) | Missense | <0.01% | Altered channel conductance |
| c.455C>T (p.Pro152Leu) | Missense | <0.01% | Reduced protein stability |
| c.1234delA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants that truncate the protein or disrupt channel pore.
Gain of Function (GOF)
Not reported in BEST3; gain-of-function variants are rare in bestrophins.
Dominant Negative (DN)
Missense variants that interfere with multimerization of bestrophin channels.
View complete mutation data：
Gene Ontology (GO)
| • calcium-activated chloride channel activity | • chloride channel complex |
| • ion transport | • response to calcium ion |
Pathways
• Calcium signaling pathway
• Chloride channel activity
Protein Summary
Bestrophin 3 is a transmembrane protein that functions as a calcium-activated chloride channel. It is involved in regulating chloride ion flux across cell membranes, particularly in excitable tissues. The protein contains a conserved bestrophin domain and is thought to form homomeric or heteromeric channels with other bestrophins. Mutations in BEST3 can disrupt ion homeostasis and contribute to retinal pathology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BEST3 Knockout HEK293 Cell Line | EDJ-KQ3266 | Human | 144453 | Details Get a Quote |
| BEST3 Knockout A-549 Cell Line | EDJ-KQ24812 | Human | 144453 | Details Get a Quote |
| BEST3 Knockout HeLa Cell Line | EDJ-KQ24813 | Human | 144453 | Details Get a Quote |
| BEST3 Knockout HCT 116 Cell Line | EDJ-KQ75399 | Human | 144453 | Details Get a Quote |
