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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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KCNAB3
potassium voltage-gated channel subfamily A regulatory beta subunit 3
Chromosome 17 · 17p13.1
NCBI Gene: 9196Ensembl: ENSG00000170049.11HGNC: HGNC:6230UniProt: O43448
15PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingpotassium channel regulator activityvoltage-gated potassium channel complextransmembrane transporter bindingneurodegenerative diseaseCOVID-19goutprostate cancer
✦AI Summary

KCNAB3 encodes a regulatory beta subunit of voltage-gated potassium (Kv) channels that modulates channel inactivation and conducts ion transport 1. The protein increases inactivation of Kv1.5 alpha subunit-containing channels and may mediate potassium channel closure through NADPH-dependent mechanisms. KCNAB3 has emerged as a biomarker across multiple pathological conditions. In epilepsy, the H258R mutation accelerates potassium channel inactivation, inhibiting potassium current and increasing neuronal excitability, thereby promoting seizures 1. The gene serves as a highly informative age biomarker, showing strong correlation with chr17 age in children and adolescents aged 2-18 years through DNA methylation patterns 2. KCNAB3 methylation changes are also associated with oral pre-cancer progression and osteoarthritis, where it helps distinguish between immune-activated and immune-suppressed disease subtypes 34. Additionally, KCNAB3 variants have been linked to migraine pathogenesis, supporting the channelopathy hypothesis of migraine 5. The protein's involvement in immunomodulation is evidenced by its role in atherosclerosis prevention through monocyte function regulation 6. These findings establish KCNAB3 as a multifunctional regulatory protein with clinical significance across neurological, inflammatory, and age-related diseases.

Sources cited
1
KCNAB3 H258R mutation accelerates potassium channel inactivation and is associated with genetic epilepsy with febrile seizures plus
PMID: 32990398
2
KCNAB3 DNA methylation serves as a highly informative age biomarker in children and adolescents aged 2-18 years
PMID: 29933125
3
KCNAB3 hypermethylation is associated with oral pre-cancer progression
PMID: 26690652
4
KCNAB3 is a hub gene distinguishing immune-activated and immune-suppressed subtypes in osteoarthritis
PMID: 39938337
5
KCNAB3 variants are potentially linked to migraine, supporting the channelopathy hypothesis
PMID: 23030542
6
KCNAB3 inhibition is a mechanism of immunomodulatory effects in atherosclerosis prevention
PMID: 26842698
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.49Moderate
COVID-19Open Targets
0.09Suggestive
goutOpen Targets
0.08Suggestive
prostate cancerOpen Targets
0.07Suggestive
attention deficit hyperactivity disorderOpen Targets
0.06Suggestive
substance abuseOpen Targets
0.06Suggestive
refractive errorOpen Targets
0.06Suggestive
risk-taking behaviourOpen Targets
0.05Suggestive
prostate carcinomaOpen Targets
0.05Suggestive
colorectal adenocarcinomaOpen Targets
0.04Suggestive
Testicular regression syndromeOpen Targets
0.04Suggestive
46,XY complete gonadal dysgenesisOpen Targets
0.03Suggestive
asthmaOpen Targets
0.03Suggestive
strokeOpen Targets
0.02Suggestive
Ischemic strokeOpen Targets
0.02Suggestive
polycythemiaOpen Targets
0.02Suggestive
epilepsyOpen Targets
0.01Suggestive
lung adenocarcinomaOpen Targets
0.00Suggestive
microphthalmia with limb anomaliesOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KCNAB1Shared pathway100%KCNA2Protein interaction94%KCNA3Protein interaction94%KCNA4Protein interaction94%KCNA5Protein interaction94%KCNB2Protein interaction91%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
36%
Ovary
22%
Liver
15%
Lung
13%
Heart
4%
Gene Interaction Network
Click a node to explore
KCNAB3KCNAB1KCNA2KCNA3KCNA4KCNA5KCNB2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O43448
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.16LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.94 [0.77–1.16]
RankingsWhere KCNAB3 stands among ~20K protein-coding genes
  • #15,596of 20,598
    Most Researched15
  • #12,147of 17,882
    Most Constrained (LOEUF)1.16
Genes detectedKCNAB3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
H258R mutation in KCNAB3 gene in a family with genetic epilepsy and febrile seizures plus.
PMID: 32990398
Brain Behav · 2020
1.00
2
A novel signature of cartilage aging-related immunophenotyping biomarkers in osteoarthritis.
PMID: 39938337
Comput Biol Med · 2025
0.90
3
Tracking age-correlated DNA methylation markers in the young.
PMID: 29933125
Forensic Sci Int Genet · 2018
0.80
4
DNA methylation markers for oral pre-cancer progression: A critical review.
PMID: 26690652
Oral Oncol · 2016
0.70
5
Identification of novel genes involved in migraine.
PMID: 23030542
Headache · 2012
0.60