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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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BEST4
bestrophin 4
Chromosome 1 · 1p34.1
NCBI Gene: 266675Ensembl: ENSG00000142959.7HGNC: HGNC:17106UniProt: Q8NFU0
13PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
chloride channel activitybicarbonate channel activityintracellularly calcium-gated chloride channel activitychloride transmembrane transportcolorectal carcinomacolorectal cancerneoplasmcolorectal adenocarcinoma
✦AI Summary

BEST4 (bestrophin 4) encodes a calcium-activated anion channel that plays multiple roles in intestinal epithelial function and disease. BEST4 functions as a ligand-gated anion channel activated by calcium, mediating the movement of bicarbonate and chloride across cell membranes 12. In the human intestinal tract, BEST4 defines a distinct subpopulation of mature absorptive epithelial cells (BEST4+ cells) present throughout the small and large intestine at low abundance (<5% of epithelial cells) 3. These cells show region-specific gene expression profiles, with small intestine-specific expression of CFTR suggesting functional specialization 43. BEST4+ cells are predicted to regulate luminal pH, electrolyte transport, mucus hydration, and antimicrobial peptide secretion 3. Recent functional studies demonstrate that BEST4+ cells generate robust CFTR-mediated fluid efflux when stimulated with bacterial toxins and respond strongly to interferon-γ, supporting roles in fluid homeostasis and immunity 5. In colorectal cancer, BEST4 acts as a tumor suppressor by inhibiting epithelial-to-mesenchymal transition through downregulation of TWIST1, with low BEST4 expression correlating with poor prognosis 6. BEST4+ cells are notably absent in mice but present in other species including zebrafish, macaque, and pig 3.

Sources cited
1
BEST4 functions as calcium-activated anion channel mediating bicarbonate and chloride movement
PMID: 12907679
2
BEST4 is a ligand-gated anion channel activated by calcium
PMID: 18400985
3
BEST4+ cells are a distinct subpopulation of mature absorptive cells present at <5% abundance with predicted roles in pH regulation and electrolyte transport
PMID: 38557358
4
BEST4+ cells show region-specific expression including small intestine-specific CFTR expression
PMID: 35176508
5
BEST4+ cells generate CFTR-mediated fluid efflux in response to bacterial toxins and respond to interferon-γ
PMID: 40010349
6
BEST4 acts as tumor suppressor in colorectal cancer by inhibiting epithelial-to-mesenchymal transition
PMID: 39699952
Disease Associationsⓘ20
colorectal carcinomaOpen Targets
0.08Suggestive
colorectal cancerOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.04Suggestive
colorectal adenocarcinomaOpen Targets
0.04Suggestive
Barrett's esophagusOpen Targets
0.03Suggestive
ulcerative colitisOpen Targets
0.02Suggestive
placental retentionOpen Targets
0.02Suggestive
Crohn's diseaseOpen Targets
0.02Suggestive
colonic neoplasmOpen Targets
0.02Suggestive
gastric carcinomaOpen Targets
0.01Suggestive
inflammatory bowel diseaseOpen Targets
0.01Suggestive
ependymomaOpen Targets
0.01Suggestive
adenomaOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
autoimmune enteropathyOpen Targets
0.00Suggestive
lymph node metastatic carcinomaOpen Targets
0.00Suggestive
basal cell carcinomaOpen Targets
0.00Suggestive
colorectal adenomaOpen Targets
0.00Suggestive
Peutz-Jeghers syndromeOpen Targets
0.00Suggestive
polyp of colonOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
OTOP2Protein interaction75%CLIC6Shared pathway50%BEST3Shared pathway50%CYB5RLShared pathway50%CYB5R1Shared pathway50%CYB5R2Shared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
59%
Liver
49%
Brain
48%
Lung
45%
Heart
15%
Gene Interaction Network
Click a node to explore
BEST4OTOP2CLIC6BEST3CYB5RLCYB5R1CYB5R2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8NFU0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.05LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.80 [0.62–1.05]
RankingsWhere BEST4 stands among ~20K protein-coding genes
  • #16,104of 20,598
    Most Researched13
  • #10,585of 17,882
    Most Constrained (LOEUF)1.05
Genes detectedBEST4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Intra- and Inter-cellular Rewiring of the Human Colon during Ulcerative Colitis.
PMID: 31348891
Cell · 2019
1.00
2
Cells of the human intestinal tract mapped across space and time.
PMID: 34497389
Nature · 2021
0.90
3
Single-cell analysis of shared signatures and transcriptional diversity during zebrafish development.
PMID: 37995681
Dev Cell · 2023
0.80
4
A Proximal-to-Distal Survey of Healthy Adult Human Small Intestine and Colon Epithelium by Single-Cell Transcriptomics.
PMID: 35176508
Cell Mol Gastroenterol Hepatol · 2022
0.70
5
Human gastrointestinal epithelia of the esophagus, stomach, and duodenum resolved at single-cell resolution.
PMID: 33691112
Cell Rep · 2021
0.60