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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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KCNMB1
potassium calcium-activated channel subfamily M regulatory beta subunit 1
Chromosome 5 · 5q35.1
NCBI Gene: 3779Ensembl: ENSG00000145936.10HGNC: HGNC:6285UniProt: Q16558
69PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
neuronal action potentialvoltage-gated potassium channel complexpotassium channel regulator activitypotassium ion transportneurodegenerative diseasedermatomycosiscellulitisabscess
✦AI Summary

KCNMB1 encodes the β1 regulatory subunit of large-conductance calcium-activated potassium (BK) channels, which modulates the gating kinetics and calcium sensitivity of the KCNMA1 pore-forming subunit. This regulatory function enables negative feedback control of smooth muscle contraction by enhancing calcium sensitivity and slowing channel activation/deactivation kinetics. Clinically, KCNMB1 dysregulation is implicated in multiple pathologies. The KCNMB1 E65K polymorphism is associated with essential hypertension risk in Asian populations 1. In cardiovascular disease, reduced KCNMB1 expression drives vascular smooth muscle cell phenotypic switching from contractile to proliferative states, ultimately promoting apoptosis 2. Conversely, KCNMB1 upregulation occurs in idiopathic pulmonary fibrosis, where increased BK channel activity promotes myofibroblast differentiation through calcium-dependent mechanisms 3. KCNMB1 expression is hypoxia-inducible via HIF-1α transcriptional regulation 4, and atherogenic factors like 7-ketocholesterol suppress KCNMB1 through aryl hydrocarbon receptor signaling, contributing to vascular rigidity 5. Additionally, KCNMB1 upregulation occurs in high-grade glioblastomas and promotes tumor cell proliferation and migration 6. KCNMB1 also regulates cerebral artery responses to ethanol via BK channel modulation 7. These findings suggest KCNMB1 represents a therapeutic target across cardiovascular, pulmonary, and neoplastic diseases.

Sources cited
1
KCNMB1 E65K polymorphism dominant model associated with essential hypertension risk in Asian populations
PMID: 31169684
2
Reduced KCNMB1 expression causes vascular smooth muscle cell phenotypic switch from contractile to proliferative phenotype and apoptosis in cardiovascular disease
PMID: 40653026
3
KCNMB1 upregulation in idiopathic pulmonary fibrosis fibroblasts promotes myofibroblast differentiation through calcium-dependent BK channel activation
PMID: 31486669
4
HIF-1α increases KCNMB1 expression in response to hypoxia in pulmonary artery smooth muscle cells by binding to hypoxia response elements
PMID: 22114151
5
7-ketocholesterol induces KCNMB1 reduction in vascular smooth muscle cells through aryl hydrocarbon receptor pathway in atherosclerosis
PMID: 25576871
6
KCNMB1 expression is upregulated in grade IV glioblastomas compared to lower grades, and BK channel modulation reduces glioma cell proliferation and migration
PMID: 40484048
7
KCNMB1 proteins regulate smooth muscle BK channel function and control interspecies and regional variability of cerebral artery responses to ethanol
PMID: 36717168
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
dermatomycosisOpen Targets
0.30Weak
abscessOpen Targets
0.25Weak
cellulitisOpen Targets
0.25Weak
neuroinflammatory disorderOpen Targets
0.18Weak
focal segmental glomerulosclerosisOpen Targets
0.05Suggestive
Moyamoya diseaseOpen Targets
0.05Suggestive
familial idiopathic steroid-resistant nephrotic syndromeOpen Targets
0.05Suggestive
IGA glomerulonephritisOpen Targets
0.05Suggestive
familial cylindromatosisOpen Targets
0.04Suggestive
glomerulopathy with fibronectin deposits 2Open Targets
0.04Suggestive
polycystic kidney disease 7Open Targets
0.04Suggestive
glomerulopathy with fibronectin deposits 1Open Targets
0.04Suggestive
supravalvular aortic stenosisOpen Targets
0.04Suggestive
polycystic kidney disease 5Open Targets
0.04Suggestive
pseudotumor cerebriOpen Targets
0.04Suggestive
Capillary malformation - arteriovenous malformationOpen Targets
0.04Suggestive
dilated cardiomyopathy 1IOpen Targets
0.04Suggestive
metabolic syndromeOpen Targets
0.04Suggestive
metabolic syndrome XOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KCNU1Protein interaction98%KCNN4Protein interaction98%KCNN2Protein interaction96%KCNMA1Protein interaction95%LRRC26Protein interaction95%PRKG1Protein interaction91%
Tissue Expression6 tissues
Heart
100%
Lung
92%
Ovary
47%
Bone Marrow
27%
Brain
20%
Liver
14%
Gene Interaction Network
Click a node to explore
KCNMB1KCNU1KCNN4KCNN2KCNMA1LRRC26PRKG1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q16558
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.37LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.96 [0.69–1.37]
RankingsWhere KCNMB1 stands among ~20K protein-coding genes
  • #6,807of 20,598
    Most Researched69
  • #14,322of 17,882
    Most Constrained (LOEUF)1.37
Genes detectedKCNMB1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The dominant models of KCNJ11 E23K and KCNMB1 E65K are associated with essential hypertension (EH) in Asian: Evidence from a meta-analysis.
PMID: 31169684
Medicine (Baltimore) · 2019
1.00
2
Targeting Ca
PMID: 40484048
Biochim Biophys Acta Mol Basis Dis · 2025
0.90
3
The Role of KCNMB1 and BK Channels in Myofibroblast Differentiation and Pulmonary Fibrosis.
PMID: 31486669
Am J Respir Cell Mol Biol · 2020
0.80
4
Reduced expression of KCNMB1 leads to vascular smooth muscle cell phenotypic switch and apoptosis.
PMID: 40653026
Biochem Pharmacol · 2025
0.70
5
Interspecies and regional variability of alcohol action on large cerebral arteries: regulation by KCNMB1 proteins.
PMID: 36717168
Am J Physiol Regul Integr Comp Physiol · 2023
0.60