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
146573442003The hyperpolarization-activated channel HCN4 is required for the generation of pacemaker action potentials in the embryonic heart.112
164075102006Familial sinus bradycardia associated with a mutation in the cardiac pacemaker channel.107
127504032003Pacemaker channel dysfunction in a patient with sinus node disease.89
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
239740382013A HCN4+ cardiomyogenic progenitor derived from the first heart field and human pluripotent stem cells.67
151236482004Functional characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia.66
116757862001Hyperpolarization-activated channels HCN1 and HCN4 mediate responses to sour stimuli.57
176465762007Point mutation in the HCN4 cardiac ion channel pore affecting synthesis, trafficking, and functional expression is associated with familial asymptomatic sinus bradycardia.44
251455172014HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy.40
195709982009Control of heart rate by cAMP sensitivity of HCN channels.35

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