KCNH2 potassium voltage-gated channel subfamily H member 2
Gene ID: 3757, updated on 2-Nov-2024Gene type: protein coding
Also known as: ERG1; HERG; LQT2; SQT1; ERG-1; H-ERG; HERG1; Kv11.1
- See all available tests in GTR for this gene
- Go to complete Gene record for KCNH2
- Go to Variation Viewer for KCNH2 variants
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
| Description | Tests |
|---|---|
| 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 Overview | See labs |
| Long QT syndrome 2 | See labs |
| Several common variants modulate heart rate, PR interval and QRS duration. GeneReviews: Not available | |
| Short QT syndrome type 1 | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2020-02-26) ClinGen Genome Curation PageHaploinsufficency 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
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for KCNH2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- KCNH2 @ ZAC-GGM
- KCNH2 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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.