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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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KCNAB1
potassium voltage-gated channel subfamily A regulatory beta subunit 1
Chromosome 3 · 3q25.31
NCBI Gene: 7881Ensembl: ENSG00000169282.19HGNC: HGNC:6228UniProt: B7Z435
51PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytosolcytoplasmic side of plasma membranepotassium channel regulator activityvoltage-gated potassium channel complexpremature birthalcohol drinkingrestless legs syndromehigh grade ovarian serous adenocarcinoma
✦AI Summary

KCNAB1 encodes the potassium voltage-gated channel subfamily A regulatory beta subunit 1, which serves as an auxiliary subunit that modulates voltage-gated potassium channels. The protein exhibits regulatory activity on potassium channel complexes and demonstrates NADPH binding and alcohol dehydrogenase activity 12. KCNAB1 functions by assembling with various Kv channels (such as Kv1.3 and Kv1.5) to modify their electrophysiological properties, including induction of fast and incomplete inactivation patterns, with trafficking regulated through PKC-dependent phosphorylation mechanisms 2. The gene shows significant disease relevance across multiple conditions. Genetic variants in KCNAB1, particularly rs6770663, are associated with bevacizumab-induced hypertension in cancer patients, with validation across multiple independent cohorts 34. Additionally, KCNAB1 variants show association with lateral temporal epilepsy, supporting its role as a susceptibility factor 5, and with age-related nuclear cataract in Asian populations 6. Clinically, KCNAB1 expression is altered in various pathological states, including overexpression in schizophrenia patients' lymphocytes 1 and dysregulation in sudden cardiac death cases 7. The rs6770663 variant demonstrates particular clinical utility as a predictive biomarker for bevacizumab-induced hypertension when combined with plasma protein levels 4.

Sources cited
1
KCNAB1 presence in lymphocytes and overexpression in schizophrenia
PMID: 38944972
2
KCNAB1 assembly with Kv channels and PKC-dependent trafficking regulation
PMID: 33572906
3
rs6770663 variant association with bevacizumab-induced hypertension
PMID: 34616010
4
Independent contribution of KCNAB1 variant to hypertension risk prediction
PMID: 38992025
5
Association with lateral temporal epilepsy susceptibility
PMID: 21333500
6
Association with age-related nuclear cataract in Asians
PMID: 24951543
7
Dysregulated expression in sudden cardiac death cases
PMID: 39545913
Disease Associationsⓘ20
premature birthOpen Targets
0.33Weak
alcohol drinkingOpen Targets
0.33Weak
restless legs syndromeOpen Targets
0.31Weak
high grade ovarian serous adenocarcinomaOpen Targets
0.31Weak
coronary artery diseaseOpen Targets
0.30Weak
congenital anomaly of cardiovascular systemOpen Targets
0.27Weak
Abnormal blistering of the skinOpen Targets
0.27Weak
ovarian dysfunctionOpen Targets
0.26Weak
multinodular goiterOpen Targets
0.26Weak
placental retentionOpen Targets
0.23Weak
HirsutismOpen Targets
0.23Weak
placenta praeviaOpen Targets
0.18Weak
liver diseaseOpen Targets
0.18Weak
neuroendocrine neoplasmOpen Targets
0.18Weak
Age-related nuclear cataractOpen Targets
0.16Weak
musculoskeletal system diseaseOpen Targets
0.13Weak
Romano-Ward syndromeOpen Targets
0.09Suggestive
familial atrial fibrillationOpen Targets
0.07Suggestive
Familial progressive cardiac conduction defectOpen Targets
0.07Suggestive
Brugada syndromeOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KCNAB3Shared pathway100%KCNA2Protein interaction99%KCNA3Protein interaction99%KCNA4Protein interaction99%KCNA5Protein interaction99%KCNC1Protein interaction91%
Tissue Expression6 tissues
Brain
100%
Heart
69%
Bone Marrow
45%
Ovary
17%
Lung
13%
Liver
7%
Gene Interaction Network
Click a node to explore
KCNAB1KCNAB3KCNA2KCNA3KCNA4KCNA5KCNC1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q14722
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.76LoF Tolerant
pLIⓘ
0.03Tolerant
Observed/Expected LoF0.48 [0.32–0.76]
RankingsWhere KCNAB1 stands among ~20K protein-coding genes
  • #8,691of 20,598
    Most Researched51
  • #6,057of 17,882
    Most Constrained (LOEUF)0.76
Genes detectedKCNAB1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Characterization and modulation of voltage-gated potassium channels in human lymphocytes in schizophrenia.
PMID: 38944972
Schizophr Res · 2024
1.00
2
Expression of AKRs superfamily and prognostic in human gastric cancer.
PMID: 36827074
Medicine (Baltimore) · 2023
0.90
3
Bevacizumab-induced hypertension and proteinuria: a genome-wide study of more than 1000 patients.
PMID: 34616010
Br J Cancer · 2022
0.80
4
Contribution of plasma levels of VEGF-A and angiopoietin-2 in addition to a genetic variant in KCNAB1 to predict the risk of bevacizumab-induced hypertension.
PMID: 38992025
Pharmacogenomics J · 2024
0.70
5
Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.
PMID: 24951543
Hum Mol Genet · 2014
0.60