HCN4 (hyperpolarization activated cyclic nucleotide gated potassium channel 4)

2014-11-01  

Identity

HGNC
LOCATION
15q24.1
LOCUSID
ALIAS
SSS2

Other Information

Locus ID:

NCBI: 10021
MIM: 605206
HGNC: 16882
Ensembl: ENSG00000138622

Variants:

dbSNP: 10021
ClinVar: 10021
TCGA: ENSG00000138622
COSMIC: HCN4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138622ENST00000261917Q9Y3Q4

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Taste transductionKEGGko04742
Taste transductionKEGGhsa04742
cAMP signaling pathwayKEGGhsa04024
cAMP signaling pathwayKEGGko04024
Neuronal SystemREACTOMER-HSA-112316
Potassium ChannelsREACTOMER-HSA-1296071
HCN channelsREACTOMER-HSA-1296061

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
380329312023A gain-of-function HCN4 mutant in the HCN domain is responsible for inappropriate sinus tachycardia in a Spanish family.4
380329312023A gain-of-function HCN4 mutant in the HCN domain is responsible for inappropriate sinus tachycardia in a Spanish family.4
352196492022Altered cyclic nucleotide binding and pore opening in a diseased human HCN4 channel.1
353280312022Clinical Presentation of Left Ventricular Noncompaction Cardiomyopathy and Bradycardia in Three Families Carrying HCN4 Pathogenic Variants.6
353652322022Enhancement of pacing function by HCN4 overexpression in human pluripotent stem cell-derived cardiomyocytes.2
358642192022Virus-induced inhibition of cardiac pacemaker channel HCN4 triggers bradycardia in human-induced stem cell system.6
362444482022Channel HCN4 mutation R666Q associated with sporadic arrhythmia decreases channel electrophysiological function and increases protein degradation.2
352196492022Altered cyclic nucleotide binding and pore opening in a diseased human HCN4 channel.1
353280312022Clinical Presentation of Left Ventricular Noncompaction Cardiomyopathy and Bradycardia in Three Families Carrying HCN4 Pathogenic Variants.6
353652322022Enhancement of pacing function by HCN4 overexpression in human pluripotent stem cell-derived cardiomyocytes.2
358642192022Virus-induced inhibition of cardiac pacemaker channel HCN4 triggers bradycardia in human-induced stem cell system.6
362444482022Channel HCN4 mutation R666Q associated with sporadic arrhythmia decreases channel electrophysiological function and increases protein degradation.2
340883802021Phenotype/Genotype Relationship in Left Ventricular Noncompaction: Ion Channel Gene Mutations Are Associated With Preserved Left Ventricular Systolic Function and Biventricular Noncompaction: Phenotype/Genotype of Noncompaction.8
341666082021Gating movements and ion permeation in HCN4 pacemaker channels.37
340883802021Phenotype/Genotype Relationship in Left Ventricular Noncompaction: Ion Channel Gene Mutations Are Associated With Preserved Left Ventricular Systolic Function and Biventricular Noncompaction: Phenotype/Genotype of Noncompaction.8

Citation

Dessen P

HCN4 (hyperpolarization activated cyclic nucleotide gated potassium channel 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64211/hcn4-(hyperpolarization-activated-cyclic-nucleotide-gated-potassium-channel-4)