BEST2 Gene - Bestrophin 2
Comprehensive genomic and functional analysis of BEST2, a calcium-activated chloride channel implicated in ocular and systemic physiology.
Gene Information Card
| Symbol | BEST2 |
|---|---|
| Full Name | Bestrophin 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.12 |
| NCBI Gene ID | 54831 ncbi.nlm.nih.gov/gene/54831 |
| Ensembl ID | ENSG00000139921 |
| UniProt ID | Q8NFU1 |
| OMIM ID | 607335 |
| HGNC ID | 17107 |
| Aliases | VMD2L1, bestrophin-2, vitelliform macular dystrophy 2-like protein 1 |
Description
BEST2 (bestrophin 2) encodes a member of the bestrophin family of calcium-activated chloride channels. The protein is predominantly expressed in the retinal pigment epithelium (RPE) and is involved in ion transport and cellular homeostasis. Mutations in BEST2 are associated with retinal degenerative disorders, including vitelliform macular dystrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Vitelliform macular dystrophy (VMD) | Impaired chloride conductance due to BEST2 mutations leads to RPE dysfunction and lipofuscin accumulation. | ClinVar, OMIM |
| Bestrophinopathy | Disrupted calcium-activated chloride channel activity alters RPE ion transport, contributing to photoreceptor degeneration. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | Medium |
| Retinal pigment epithelium | 15.3 | Medium |
| Testis | 2.1 | Low |
| Brain | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (RPE cell line) | 14.2 | High expression |
| HEK293 | 1.5 | Low expression |
| HeLa | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.236G>A (p.Arg79His) | Missense | <0.01% | Reduced chloride conductance |
| c.422C>T (p.Thr141Met) | Missense | <0.01% | Altered channel gating |
| c.763G>A (p.Gly255Arg) | Missense | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg79His) impair calcium-activated chloride channel activity, leading to RPE dysfunction.
Gain of Function (GOF)
No gain-of-function mutations reported in BEST2.
Dominant Negative (DN)
Some BEST2 mutations may exert dominant-negative effects on channel multimerization, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • chloride channel activity (GO:0005254) | • calcium-activated cation channel activity (GO:0005227) |
| • integral component of membrane (GO:0016021) | • plasma membrane (GO:0005886) |
| • ion transport (GO:0006811) | • calcium ion transmembrane transport (GO:0070588) |
Pathways
• Calcium signaling pathway (KEGG: hsa04020)
• Ion transport by bestrophins (Reactome: R-HSA-2672351)
Protein Summary
Bestrophin 2 is a 509-amino acid transmembrane protein that forms calcium-activated chloride channels. It is highly expressed in the retinal pigment epithelium, where it regulates ion and fluid transport essential for photoreceptor health. The protein contains a conserved bestrophin domain and functions as a homomultimer. Mutations in BEST2 disrupt channel activity and are linked to retinal dystrophies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BEST2 Knockout HEK293 Cell Line | EDJ-KQ11997 | Human | 54831 | Details Get a Quote |
| BEST2 Knockout HeLa Cell Line | EDJ-KQ56481 | Human | 54831 | Details Get a Quote |
| BEST2 Knockout A-549 Cell Line | EDJ-KQ64973 | Human | 54831 | Details Get a Quote |
| BEST2 Knockout HCT 116 Cell Line | EDJ-KQ73419 | Human | 54831 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
