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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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KCNMB2
potassium calcium-activated channel subfamily M regulatory beta subunit 2
Chromosome 3 · 3q26.32
NCBI Gene: 10242Ensembl: ENSG00000197584.14HGNC: HGNC:6286UniProt: B5BNW5
32PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingpotassium ion transportneuronal action potentialplasma membraneobesityinsomniaAbnormality of the skeletal systemrespiratory system neoplasm
✦AI Summary

KCNMB2 encodes a regulatory beta subunit of calcium-activated potassium channels (BK channels) that modulates channel function and neuronal excitability. The protein acts as a negative regulator that confers rapid inactivation to KCNMA1 channel complexes and alters activation/deactivation kinetics 1. KCNMB2 is expressed in central neurons including hippocampal CA1 neurons and chr3 cells, where it contributes to BK channel diversity through tissue-specific modulation. Functionally significant variants in KCNMB2 have been associated with multiple pathological conditions. Genetic studies identified KCNMB2 as a risk gene for limbic-predominant age-related TDP-43 encephalopathy (LATE) and hippocampal sclerosis of aging 23, with gene-based associations confirmed in large autopsy cohorts. Additionally, KCNMB2 polymorphisms influence ritodrine therapy outcomes in preterm labor, affecting both drug efficacy and adverse events 4. An autism-associated G124R mutation in the extracellular loop alters BK channel activation and deactivation kinetics, though its pathogenicity requires further validation 1. KCNMB2 expression changes are also implicated in COPD progression in response to cigarette smoking 5. These findings highlight KCNMB2's critical role in neuronal function and its involvement in age-related neurodegeneration and other pathological processes.

Sources cited
1
KCNMB2 encodes a beta subunit that confers inactivation to BK channels and G124R mutation alters channel kinetics
PMID: 36203817
2
KCNMB2 identified as genetic risk factor for limbic-predominant age-related TDP-43 encephalopathy (LATE)
PMID: 31039256
3
Gene-based associations between KCNMB2 and LATE-NC/hippocampal sclerosis confirmed in autopsy cohorts
PMID: 34526147
4
KCNMB2 polymorphisms affect ritodrine therapy efficacy and adverse events in preterm labor
PMID: 32371615
5
KCNMB2 expression changes associated with COPD progression in response to cigarette smoking
PMID: 36157207
Disease Associationsⓘ20
obesityOpen Targets
0.40Moderate
insomniaOpen Targets
0.38Weak
Abnormality of the skeletal systemOpen Targets
0.36Weak
respiratory system neoplasmOpen Targets
0.31Weak
overnutritionOpen Targets
0.30Weak
autoimmune disorder of musculoskeletal systemOpen Targets
0.28Weak
Abruptio PlacentaeOpen Targets
0.27Weak
trigeminal nerve diseaseOpen Targets
0.27Weak
type 1 diabetes nephropathyOpen Targets
0.26Weak
gestational diabetesOpen Targets
0.26Weak
cutaneous lupus erythematosusOpen Targets
0.26Weak
systemic lupus erythematosusOpen Targets
0.26Weak
diabetic ketoacidosisOpen Targets
0.26Weak
mixed connective tissue diseaseOpen Targets
0.25Weak
neurodegenerative diseaseOpen Targets
0.25Weak
appendicitisOpen Targets
0.24Weak
type 2 diabetes mellitusOpen Targets
0.20Weak
smoking initiationOpen Targets
0.20Weak
lipomaOpen Targets
0.20Weak
diabetes mellitusOpen Targets
0.20Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KCNU1Protein interaction98%KCNMA1Protein interaction94%KCNN1Protein interaction94%KCNN2Protein interaction94%KCNN3Protein interaction94%KCNN4Protein interaction94%
Tissue Expression6 tissues
Brain
100%
Ovary
41%
Heart
18%
Lung
1%
Bone Marrow
1%
Liver
0%
Gene Interaction Network
Click a node to explore
KCNMB2KCNU1KCNMA1KCNN1KCNN2KCNN3KCNN4
PROTEIN STRUCTURE
Preparing viewer…
PDB1JO6 · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.59Moderately Constrained
pLIⓘ
0.88Intermediate
Observed/Expected LoF0.30 [0.16–0.59]
RankingsWhere KCNMB2 stands among ~20K protein-coding genes
  • #11,533of 20,598
    Most Researched32
  • #3,953of 17,882
    Most Constrained (LOEUF)0.59 · top quartile
Genes detectedKCNMB2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Limbic-predominant age-related TDP-43 encephalopathy (LATE): consensus working group report.
PMID: 31039256
Brain · 2019
1.00
2
Long Noncoding RNA KCNMB2-AS1 Stabilized by N
PMID: 33028109
Cell Transplant · 2020
0.90
3
Gene-based association study of genes linked to hippocampal sclerosis of aging neuropathology: GRN, TMEM106B, ABCC9, and KCNMB2.
PMID: 28131462
Neurobiol Aging · 2017
0.80
4
Effects of KCNMB2 gene polymorphisms on ritodrine therapy outcomes in women with preterm labor.
PMID: 32371615
Pharmacogenet Genomics · 2020
0.70
5
Analysis of genes (TMEM106B, GRN, ABCC9, KCNMB2, and APOE) implicated in risk for LATE-NC and hippocampal sclerosis provides pathogenetic insights: a retrospective genetic association study.
PMID: 34526147
Acta Neuropathol Commun · 2021
0.60