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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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KCNAB2
potassium voltage-gated channel subfamily A regulatory beta subunit 2
Chromosome 1 · 1p36.31
NCBI Gene: 8514Ensembl: ENSG00000069424.16HGNC: HGNC:6229UniProt: B2R776
49PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingregulation of potassium ion transmembrane transportpotassium channel regulator activityvoltage-gated potassium channel complexinjuryAbruptio Placentaestrictureovarian neoplasm
✦AI Summary

KCNAB2 encodes a regulatory beta subunit of voltage-gated potassium (Kv) channels that plays crucial roles in neuronal excitability and cellular regulation 1. The protein promotes potassium channel inactivation through a mechanism that does not involve physical pore obstruction, specifically targeting Kv1.4 and Kv1.5 alpha subunit-containing channels 2. KCNAB2 also possesses NADPH-dependent aldoketoreductase activity, catalyzing the reduction of various aldehyde and ketone substrates. In neurological function, KCNAB2 deletion in mice results in associative memory impairments and amygdala hyperexcitability, demonstrating reduced slow afterhyperpolarization and increased neuronal excitability 2. Clinically, KCNAB2 haploinsufficiency is significantly associated with epilepsy in 1p36 deletion syndrome patients, with 89% of KCNAB2-deleted patients exhibiting seizures or epileptiform activity compared to 27% of non-deleted patients 1. The gene also functions as a tumor suppressor in non-small cell lung cancer, where its downregulation correlates with poor prognosis and reduced immune infiltration 34. KCNAB2 overexpression inhibits cancer cell growth and M2 macrophage polarization by inactivating the PI3K/AKT pathway 5. Additionally, KCNAB2 expression is regulated by FTO-mediated m6A methylation, adding another layer of post-transcriptional control 5.

Sources cited
1
KCNAB2 haploinsufficiency is associated with epilepsy in 1p36 deletion syndrome
PMID: 11580756
2
KCNAB2 deletion causes associative memory deficits and amygdala hyperexcitability in mice
PMID: 21209188
3
KCNAB2 functions as tumor suppressor in non-small cell lung cancer
PMID: 37852974
4
KCNAB2 downregulation correlates with poor prognosis and reduced immune infiltration in lung adenocarcinoma
PMID: 36359834
5
KCNAB2 inhibits cancer cell growth and M2 macrophage polarization via PI3K/AKT pathway and is regulated by FTO-mediated m6A methylation
PMID: 40114527
Disease Associationsⓘ20
injuryOpen Targets
0.33Weak
Abruptio PlacentaeOpen Targets
0.28Weak
strictureOpen Targets
0.28Weak
ovarian neoplasmOpen Targets
0.23Weak
nephronophthisisOpen Targets
0.17Weak
nephronophthisis 4Open Targets
0.17Weak
Senior-Loken syndromeOpen Targets
0.17Weak
Senior-Loken syndrome 4Open Targets
0.16Weak
genetic disorderOpen Targets
0.12Weak
non-small cell lung carcinomaOpen Targets
0.08Suggestive
lung adenocarcinomaOpen Targets
0.08Suggestive
azoospermiaOpen Targets
0.07Suggestive
benign adult familial myoclonic epilepsyOpen Targets
0.07Suggestive
Unverricht-Lundborg diseaseOpen Targets
0.07Suggestive
essential tremorOpen Targets
0.07Suggestive
Unverricht-Lundborg syndromeOpen Targets
0.06Suggestive
dystonia 27Open Targets
0.06Suggestive
alcohol drinkingOpen Targets
0.06Suggestive
Progressive myoclonic epilepsyOpen Targets
0.06Suggestive
Young adult-onset ParkinsonismOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DLG1Protein interaction97%KCNA2Protein interaction97%KCNA3Protein interaction97%KCNA4Protein interaction97%KCNA5Protein interaction97%KCNA1Protein interaction95%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
51%
Lung
28%
Heart
10%
Liver
6%
Ovary
5%
Gene Interaction Network
Click a node to explore
KCNAB2DLG1KCNA2KCNA3KCNA4KCNA5KCNA1
PROTEIN STRUCTURE
Preparing viewer…
PDB1ZSX · 1.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.62LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF0.45 [0.33–0.62]
RankingsWhere KCNAB2 stands among ~20K protein-coding genes
  • #8,963of 20,598
    Most Researched49
  • #4,362of 17,882
    Most Constrained (LOEUF)0.62 · top quartile
Genes detectedKCNAB2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
1p36 deletion syndrome: an update.
PMID: 26345236
Appl Clin Genet · 2015
1.00
2
KCNAB2 overexpression inhibits human non-small-cell lung cancer cell growth in vitro and in vivo.
PMID: 37852974
Cell Death Discov · 2023
0.90
3
The Ion Channel Gene KCNAB2 Is Associated with Poor Prognosis and Loss of Immune Infiltration in Lung Adenocarcinoma.
PMID: 36359834
Cells · 2022
0.80
4
Deletion of the mouse homolog of KCNAB2, a gene linked to monosomy 1p36, results in associative memory impairments and amygdala hyperexcitability.
PMID: 21209188
J Neurosci · 2011
0.70
5
FTO-mediated m6A Methylation of KCNAB2 Inhibits Tumor Property of Non-Small Cell Lung Cancer Cells and M2 Macrophage Polarization by Inactivating the PI3K/AKT Pathway.
PMID: 40114527
J Biochem Mol Toxicol · 2025
0.60