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atrial fibrillation, familial, 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

atrial fibrillation, familial, 4

MONDO:0012677

Also known as:KCNE2 familial atrial fibrillationatrial fibrillation, familial, type 4familial atrial fibrillation caused by mutation in KCNE2

Overview

Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNE2 gene.

GeneticsAutosomal dominant · KCNE2 (chr 21)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Atrial fibrillation and Premature atrial contractions; and very common findings: Palpitations. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	4	Permanent atrial fibrillation, Atrial fibrillation, Paroxysmal atrial fibrillation

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

KCNE2 encodes potassium voltage-gated channel subfamily E regulatory subunit 2 (123 aa). Ancillary protein that functions as a regulatory subunit of the voltage-gated potassium (Kv) channel complex composed of pore-forming and potassium-conducting alpha subunits and of regulatory beta subunits. Highest expression in Stomach (306.8 TPM) and Testis (5.9 TPM).

Atrial fibrillation, familial, 4 is associated with mutations in the KCNE2 gene on chromosome 21.

KCNE2 is classified as a druggable target (Cell Surface and Ion Channel categories) with score 4.0.

Diagnosis

Genetic testing for KCNE2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for atrial fibrillation, familial, 4 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 1 very common feature, 1 common feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for atrial fibrillation, familial, 4.

288 publications have been identified in PubMed for atrial fibrillation, familial, 4. Kisho has analyzed 153 by research type. Research spans Epidemiology / Natural History (30%), Clinical Trial Publication (28%), and Basic Science / Preclinical (18%).

Research Type	Count	% of Total
Disease patterns and progression	46	30%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:14 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611493

GARD

Genetic and Rare Diseases Info Center

GARD:15516

Questions for Your Care Team

→Should I pursue genetic testing for KCNE2, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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atrial fibrillation, familial, 4

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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