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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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BEST3
bestrophin 3
Chromosome 12 · 12q15
NCBI Gene: 144453Ensembl: ENSG00000127325.20HGNC: HGNC:17105UniProt: Q8N1M1
15PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
intracellularly calcium-gated chloride channel activitychloride channel activityligand-gated monoatomic anion channel activitychloride transmembrane transportatrial fibrillationadolescent idiopathic scoliosisdiabetic ketoacidosisconcussion
✦AI Summary

BEST3 (bestrophin 3) encodes a calcium-activated chloride channel that mediates chloride ion transport across cell membranes 1. The channel is regulated by its C-terminal domain, which contains an autoinhibitory sequence and basic amino acid residues that modulate activation through membrane phospholipid binding 2. BEST3 is activated by PI3K inhibitors and plays a critical role in vascular physiology 1. Mechanistically, BEST3 interacts with MEKK2/3 kinases to suppress their phosphorylation-dependent degradation, thereby regulating smooth muscle cell phenotype and vascular integrity 3. Alternative splicing generates a non-functional variant (Best3-Delta2,3,6) in exocrine glands that lacks the N-terminus and transmembrane domains, suggesting tissue-specific regulation 4. Clinically, BEST3 deficiency in vascular smooth muscle cells causes spontaneous aortic dissection in mice (48% incidence by 72 weeks), with human aortic dissection samples showing reduced BEST3 expression 3. BEST3 overexpression in non-small cell lung cancer promotes tumor cell proliferation and migration while suppressing apoptosis, implicating it as a prognostic marker 5. A rare BEST3 missense variant (L606I) has been identified in mandibular prognathism 6. BEST3-MEKK2/3 signaling represents a novel therapeutic target for aortic dissection.

Sources cited
1
BEST3 deficiency in smooth muscle cells activates MEKK2/3 signaling to trigger spontaneous aortic dissection; BEST3 expression is decreased in human AD samples
PMID: 37203562
2
BEST3 is a calcium-activated chloride channel; C-terminal membrane association and basic residues regulate channel activation
PMID: 23124946
3
BEST3 contains an autoinhibitory domain and basic amino acids involved in activation; PI3K inhibitors activate BEST3
PMID: 19920768
4
Alternative spliced BEST3 variant (Best3-Delta2,3,6) is expressed in exocrine glands but does not produce calcium-dependent chloride currents
PMID: 18414923
5
BEST3 overexpression in NSCLC suppresses apoptosis and promotes proliferation and migration; BEST3 serves as prognostic marker
PMID: 39708330
6
Rare BEST3 missense variant (L606I) identified as candidate for mandibular prognathism in Japanese pedigree
PMID: 30849546
Disease Associationsⓘ20
atrial fibrillationOpen Targets
0.49Moderate
adolescent idiopathic scoliosisOpen Targets
0.32Weak
diabetic ketoacidosisOpen Targets
0.28Weak
concussionOpen Targets
0.27Weak
non-small cell lung carcinomaOpen Targets
0.07Suggestive
spondylolisthesisOpen Targets
0.03Suggestive
enteritisOpen Targets
0.03Suggestive
astrocytomaOpen Targets
0.03Suggestive
ovarian neoplasmOpen Targets
0.02Suggestive
hypertensionOpen Targets
0.02Suggestive
lung carcinomaOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
type 2 diabetes mellitusOpen Targets
0.01Suggestive
oligodendrogliomaOpen Targets
0.01Suggestive
Tetralogy of FallotOpen Targets
0.01Suggestive
central nervous system cancerOpen Targets
0.01Suggestive
autismOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CLIC6Shared pathway100%CLCC1Shared pathway50%PACC1Shared pathway50%TTYH2Shared pathway50%BEST4Shared pathway50%TMC4Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
26%
Heart
10%
Lung
1%
Liver
1%
Ovary
0%
Gene Interaction Network
Click a node to explore
BEST3CLIC6CLCC1PACC1TTYH2BEST4TMC4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8N1M1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.27LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.97 [0.74–1.27]
RankingsWhere BEST3 stands among ~20K protein-coding genes
  • #15,496of 20,598
    Most Researched15
  • #13,440of 17,882
    Most Constrained (LOEUF)1.27
Genes detectedBEST3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Bestrophin3 Deficiency in Vascular Smooth Muscle Cells Activates MEKK2/3-MAPK Signaling to Trigger Spontaneous Aortic Dissection.
PMID: 37203562
Circulation · 2023
1.00
2
C-terminal membrane association of Bestrophin 3 and its activation as a chloride channel.
PMID: 23124946
J Membr Biol · 2013
0.90
3
A PI3 kinase inhibitor found to activate bestrophin 3.
PMID: 19920768
J Cardiovasc Pharmacol · 2010
0.80
4
BEST3-Mediated MEKK2/3 Activation: A Novel Therapeutic Target in Aortopathies.
PMID: 37579014
Circulation · 2023
0.70
5
Targeted Screening for Barrett's Esophagus and Esophageal Cancer: Post Hoc Analysis From the Randomized BEST3 Trial.
PMID: 38718951
Gastroenterology · 2024
0.60