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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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KCNB2
potassium voltage-gated channel subfamily B member 2
Chromosome 8 · 8q21.11
NCBI Gene: 9312Ensembl: ENSG00000182674.6HGNC: HGNC:6232UniProt: Q92953
33PubMed Papers
20Diseases
7Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingneuronal cell bodyplasma membraneneuronal cell body membranemultiple sclerosisMyasthenia gravisLambert-Eaton myasthenic syndromeNeurodevelopmental disorder
✦AI Summary

KCNB2 encodes the Kv2.2 voltage-gated potassium channel, which plays critical roles in neuronal excitability and cellular homeostasis. The channel mediates delayed-rectifier potassium currents that regulate action potential firing and membrane potential in neurons 1. KCNB2 functions as homotetrameric channels or forms heteromeric complexes with other potassium channel subunits, creating functionally diverse channel properties 2. In pancreatic β-cells, Kv2.2 channels regulate glucose-stimulated insulin secretion, with PGE2 inhibiting these channels through EP2/4 receptor-mediated PKA phosphorylation at residue S448 3. Pathogenic mutations in KCNB2 cause neurodevelopmental disorders including epilepsy, autism spectrum disorders, and intellectual disabilities by altering channel inactivation properties, leading to neuronal hyperexcitability 14. The channel also serves as a tumor maintenance gene in sonic hedgehog medulloblastoma, where it regulates cell volume and EGFR signaling in cancer-propagating cells 5. Additionally, KCNB2 genetic variants contribute to postoperative nausea and vomiting susceptibility 67. In bladder smooth muscle, KCNB2 expression is epigenetically regulated by EZH2 and influences cellular phenotype during obstruction-related pathology 8.

Sources cited
1
KCNB2 mutations cause neurodevelopmental disorders by altering channel inactivation and increasing neuronal excitability
PMID: 38503299
2
KCNB2 mutations are linked to autism spectrum disorders, intellectual disabilities, and epilepsy
PMID: 39577484
3
KCNB2 forms heteromeric complexes with KvS subunits creating functionally diverse channels
PMID: 40423692
4
Kv2.2 channels regulate glucose-stimulated insulin secretion and are inhibited by PGE2 through PKA phosphorylation
PMID: 40028769
5
KCNB2 serves as a tumor maintenance gene in medulloblastoma by regulating cell volume and EGFR signaling
PMID: 39862856
6
KCNB2 rs349358 polymorphism is associated with postoperative nausea and vomiting risk
PMID: 31077873
7
KCNB2 rs349358 variant contributes to genetic susceptibility to postoperative nausea and vomiting
PMID: 32371828
8
KCNB2 expression is epigenetically regulated by EZH2 in bladder smooth muscle cells
PMID: 37645613
Disease Associationsⓘ20
multiple sclerosisOpen Targets
0.59Moderate
Myasthenia gravisOpen Targets
0.56Moderate
Lambert-Eaton myasthenic syndromeOpen Targets
0.55Moderate
Neurodevelopmental disorderOpen Targets
0.46Moderate
Muscle weaknessOpen Targets
0.46Moderate
congenital myasthenic syndromeOpen Targets
0.43Moderate
Congenital myasthenic syndromesOpen Targets
0.43Moderate
smoking initiationOpen Targets
0.40Moderate
neoplasmOpen Targets
0.37Weak
cancerOpen Targets
0.37Weak
Intellectual disabilityOpen Targets
0.37Weak
autoimmune diseaseOpen Targets
0.37Weak
autoimmune disorder of the nervous systemOpen Targets
0.37Weak
immune system diseaseOpen Targets
0.37Weak
Increased muscle fatiguabilityOpen Targets
0.37Weak
nervous system diseaseOpen Targets
0.37Weak
nervous system neoplasmOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.37Weak
neuromuscular junction diseaseOpen Targets
0.37Weak
paraneoplastic neurologic syndromeOpen Targets
0.37Weak
Pathogenic Variants1
NM_004770.3(KCNB2):c.1141A>G (p.Thr381Ala)Likely pathogenic
not provided
★☆☆☆2025→ Residue 381
View on ClinVar ↗
Drug Targets7
AMIFAMPRIDINEApproved
Voltage-gated potassium channel blocker
Myasthenia gravis
AMIFAMPRIDINE PHOSPHATEApproved
Voltage-gated potassium channel blocker
Lambert-Eaton myasthenic syndrome
DALFAMPRIDINEApproved
Voltage-gated potassium channel blocker
multiple sclerosis
GUANIDINEPhase III
Voltage-gated potassium channel blocker
neuroendocrine neoplasm
GUANIDINE HYDROCHLORIDEApproved
Voltage-gated potassium channel blocker
Myasthenia gravis
NERISPIRDINEPhase II
Voltage-gated potassium channel blocker
multiple sclerosis
TEDISAMILApproved
Voltage-gated potassium channel blocker
cardiac arrhythmia
Related Genes
FAUProtein interaction91%KCNAB3Protein interaction91%KCNS1Protein interaction78%KCNAB1Protein interaction78%KCNAB2Protein interaction78%VAPBProtein interaction76%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
1%
Lung
1%
Ovary
0%
Heart
0%
Liver
0%
Gene Interaction Network
Click a node to explore
KCNB2FAUKCNAB3KCNS1KCNAB1KCNAB2VAPB
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q92953
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.35Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.23 [0.15–0.35]
RankingsWhere KCNB2 stands among ~20K protein-coding genes
  • #11,360of 20,598
    Most Researched33
  • #328of 1,025
    FDA-Approved Drug Targets5
  • #5,235of 5,498
    Most Pathogenic Variants1
  • #1,570of 17,882
    Most Constrained (LOEUF)0.35 · top 10%
Genes detectedKCNB2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The KCNB2 gene and its role in neurodevelopmental disorders: Implications for genetics and therapeutic advances.
PMID: 39577484
Clin Chim Acta · 2025
1.00
2
A forward genetic screen identifies potassium channel essentiality in SHH medulloblastoma maintenance.
PMID: 39862856
Dev Cell · 2025
0.90
3
EZH2 and matrix co-regulate phenotype and KCNB2 expression in bladder smooth muscle cells.
PMID: 37645613
Am J Clin Exp Urol · 2023
0.80
4
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.
PMID: 38503299
Am J Hum Genet · 2024
0.70
5
Genetic contribution to PONV risk.
PMID: 31077873
Anaesth Crit Care Pain Med · 2020
0.60