U.S. flag

An official website of the United States government

GTR Home > Genes

KCNH2 potassium voltage-gated channel subfamily H member 2

Gene ID: 3757, updated on 26-Mar-2023
Gene type: protein coding
Also known as: ERG1; HERG; LQT2; SQT1; ERG-1; H-ERG; HERG1; Kv11.1


This gene encodes a component of a voltage-activated potassium channel found in cardiac muscle, nerve cells, and microglia. Four copies of this protein interact with one copy of the KCNE2 protein to form a functional potassium channel. Mutations in this gene can cause long QT syndrome type 2 (LQT2). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, May 2022]

Associated conditions

See all available tests in GTR for this gene

Common variants at ten loci influence QT interval duration in the QTGEN Study.
GeneReviews: Not available
Common variants at ten loci modulate the QT interval duration in the QTSCD Study.
GeneReviews: Not available
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
GeneReviews: Not available
Genetic variation in SCN10A influences cardiac conduction.
GeneReviews: Not available
Impact of ancestry and common genetic variants on QT interval in African Americans.
GeneReviews: Not available
Long QT syndrome
MedGen: C0023976GeneReviews: Long QT Syndrome
See labs
Long QT syndrome 2
MedGen: C3150943OMIM: 613688GeneReviews: Long QT Syndrome
See labs
Several common variants modulate heart rate, PR interval and QRS duration.
GeneReviews: Not available
Short QT syndrome type 1
MedGen: C1865020OMIM: 609620GeneReviews: Not available
See labs

Copy number response

Copy number response

No evidence available (Last evaluated 2020-02-26)

ClinGen Genome Curation Page

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-02-26)

ClinGen Genome Curation PagePubMed

Genomic context

Chromosome: 7; NC_000007.14 (150944961..150978321, complement)
Total number of exons:


IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.