Gene: HCN4

Alternate names for this Gene: SSS2

Gene 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.

Gene is located in Chromosome: 15

Location in Chromosome : 15q24.1

Description of this Gene: hyperpolarization activated cyclic nucleotide gated potassium channel 4

Type of Gene: protein-coding

rs7164883 in HCN4 gene and Atrial Fibrillation PMID 22544366 2012 Meta-analysis identifies six new susceptibility loci for atrial fibrillation.

rs794727637 in HCN4 gene and Brugada Syndrome 8 PMID 25145518 2014 The symptom complex of familial sinus node dysfunction and myocardial noncompaction is associated with mutations in the HCN4 channel.

PMID 26206080 2015 HCN4 mutation as a molecular explanation on patients with bradycardia and non-compaction cardiomyopathy.

PMID 25145517 2014 HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy.

rs104894485 in HCN4 gene and Sick Sinus Syndrome 2, Autosomal Dominant PMID 15123648 2004 Functional characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia.

PMID 23103389 2012 Local and global interpretations of a disease-causing mutation near the ligand entry path in hyperpolarization-activated cAMP-gated channel.

PMID 20662977 2010 A novel mutation in the HCN4 gene causes symptomatic sinus bradycardia in Moroccan Jews.

PMID 16407510 2006 Familial sinus bradycardia associated with a mutation in the cardiac pacemaker channel.

rs2660824 in HCN4 gene and Waist-Hip Ratio PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.