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KCNH2 potassium voltage-gated channel subfamily H member 2

Gene ID: 3757, updated on 2-Nov-2024
Gene type: protein coding
Also known as: ERG1; HERG; LQT2; SQT1; ERG-1; H-ERG; HERG1; Kv11.1

Summary

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

DescriptionTests
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 syndromenot available
Long QT syndrome 2not available
Several common variants modulate heart rate, PR interval and QRS duration.
GeneReviews: Not available
Short QT syndrome type 1
MedGen: C1865020OMIM: 609620GeneReviews: Not available
not available

Copy number response

Description
Copy number response
Triplosensitivity

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

ClinGen Genome Curation Page
Haploinsufficency

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

ClinGen Genome Curation PagePubMed

Genomic context

Location:
7q36.1
Sequence:
Chromosome: 7; NC_000007.14 (150944961..150978321, complement)
Total number of exons:
20

Links

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