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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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KCNMB3
potassium calcium-activated channel subfamily M regulatory beta subunit 3
Chromosome 3 · 3q26.32
NCBI Gene: 27094Ensembl: ENSG00000171121.17HGNC: HGNC:6287UniProt: Q9NPA1
23PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
calcium-activated potassium channel activitypotassium ion transportneuronal action potentialplasma membraneMethicillin-Resistant Staphylococcus Aureus Infectionosteoarthritisintellectual developmental disorder, X-linked 110insomnia
✦AI Summary

KCNMB3 encodes the regulatory beta3 subunit of large conductance calcium-activated potassium (BK) channels, which modulates the functional properties of the KCNMA1 channel 1. The gene produces multiple splice variants (beta3a-d) with distinct functional properties, where some variants induce channel inactivation while others do not 1. Specifically, beta3b variants can produce rapid inactivation (approximately 2-6 ms) and right-shift voltage-dependence of activation 1. KCNMB3 expression is found in various tissues including osteoblasts, where it contributes to cell proliferation and mineralization 2. The gene shows significant disease relevance, particularly in epilepsy. A truncation mutation (delA750) is significantly associated with idiopathic generalized epilepsy, especially absence seizures, with increased frequency in patients (7.9%) compared to controls (5.5%) 3. Additionally, KCNMB3 variants interact with dietary polyunsaturated fatty acids to modulate insulin resistance 4. The gene also shows potential involvement in platelet secretion defects 5. Notably, KCNMB3 exhibits significant species differences, with mouse and human variants sharing only 62.8% amino acid identity, and some variants appearing to be primate-specific 6.

Sources cited
1
KCNMB3 encodes regulatory beta3 subunit variants that modulate BK channel inactivation properties
PMID: 14612589
2
DelA750 truncation mutation is significantly associated with idiopathic generalized epilepsy
PMID: 16958040
3
KCNMB3 expression in osteoblasts contributes to cell proliferation and mineralization
PMID: 19776394
4
KCNMB3 variants interact with dietary fatty acids to modulate insulin resistance
PMID: 23826284
5
KCNMB3 variants potentially involved in platelet secretion defects
PMID: 30819905
6
KCNMB3 shows significant species differences with some variants being primate-specific
PMID: 18591419
Disease Associationsⓘ20
Methicillin-Resistant Staphylococcus Aureus InfectionOpen Targets
0.32Weak
osteoarthritisOpen Targets
0.10Suggestive
intellectual developmental disorder, X-linked 110Open Targets
0.04Suggestive
insomniaOpen Targets
0.02Suggestive
ankylosing spondylitisOpen Targets
0.02Suggestive
endocrine system diseaseOpen Targets
0.02Suggestive
Insulin resistanceOpen Targets
0.01Suggestive
squamous cell carcinomaOpen Targets
0.01Suggestive
generalised epilepsyOpen Targets
0.01Suggestive
dysplasiaOpen Targets
0.00Suggestive
Glanzmann thrombastheniaOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
glioblastoma multiformeOpen Targets
0.00Suggestive
obesityOpen Targets
0.00Suggestive
epilepsyOpen Targets
0.00Suggestive
generalized epilepsyOpen Targets
0.00Suggestive
Neoplasm of the lungOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
Uterine CarcinosarcomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KCNU1Protein interaction98%PRKG1Protein interaction91%KCNMA1Protein interaction91%KCNN1Protein interaction91%KCNN2Protein interaction91%KCNN3Protein interaction91%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
63%
Ovary
63%
Heart
50%
Lung
41%
Brain
17%
Gene Interaction Network
Click a node to explore
KCNMB3KCNU1PRKG1KCNMA1KCNN1KCNN2KCNN3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NPA1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.92LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.50 [1.01–1.92]
RankingsWhere KCNMB3 stands among ~20K protein-coding genes
  • #13,445of 20,598
    Most Researched23
  • #17,424of 17,882
    Most Constrained (LOEUF)1.92
Genes detectedKCNMB3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Allelic association of a truncation mutation of the KCNMB3 gene with idiopathic generalized epilepsy.
PMID: 16958040
Am J Med Genet B Neuropsychiatr Genet · 2007
1.00
2
Polyunsaturated Fatty Acids Modulate the Association between PIK3CA-KCNMB3 Genetic Variants and Insulin Resistance.
PMID: 23826284
PLoS One · 2013
0.90
3
Species-specific Differences among KCNMB3 BK beta3 auxiliary subunits: some beta3 N-terminal variants may be primate-specific subunits.
PMID: 18591419
J Gen Physiol · 2008
0.80
4
Complications of whole-exome sequencing for causal gene discovery in primary platelet secretion defects.
PMID: 30819905
Haematologica · 2019
0.70
5
BK Channels in the Vertebrate Inner Ear.
PMID: 27238269
Int Rev Neurobiol · 2016
0.60