HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4
Gene ID: 10021, updated on 5-Mar-2024Gene type: protein coding
Also known as: SSS2; EIG18; BRGDA8
- See all available tests in GTR for this gene
- Go to complete Gene record for HCN4
- Go to Variation Viewer for HCN4 variants
Summary
This gene encodes a member of the hyperpolarization-activated cyclic nucleotide-gated potassium channels. The encoded protein shows slow kinetics of activation and inactivation, and is necessary for the cardiac pacemaking process. This channel may also mediate responses to sour stimuli. Mutations in this gene have been linked to sick sinus syndrome 2, also known as atrial fibrillation with bradyarrhythmia or familial sinus bradycardia. Two pseudogenes have been identified on chromosome 15. [provided by RefSeq, Oct 2008]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Brugada syndrome 8 | See labs |
Epilepsy, idiopathic generalized, susceptibility to, 18 | See labs |
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. GeneReviews: Not available | |
Meta-analysis identifies six new susceptibility loci for atrial fibrillation. GeneReviews: Not available | |
Sick sinus syndrome 2, autosomal dominant | See labs |
Genomic context
- Location:
- 15q24.1
- Sequence:
- Chromosome: 15; NC_000015.10 (73319859..73368958, complement)
- Total number of exons:
- 9
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for HCN4 variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- HCN4 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
- SNP: GeneViewSNPs linked from GeneView
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