Property Summary

NCBI Gene PubMed Count 62
Grant Count 11
R01 Count 9
Funding $1,504,014
PubMed Score 253.28
PubTator Score 149.95

Knowledge Summary

Patent (5,277)

Expression

  Differential Expression (3)

Disease log2 FC p
osteosarcoma 1.076 0.000
lung carcinoma 1.800 0.000
psoriasis -1.700 0.000

 GWAS Trait (1)

Gene RIF (42)

PMID Text
26206080 Our results confirm the genetic evidence for the involvement of the HCN4 mutations in the combined bradycardia-non compaction cardiomyopathy phenotype and illustrates that.
26005035 Aged patients with sinus rhythm exhibited significantly higher expression levels of HCN2 and HCN4 channel mRNA and protein (P<0.05), but significantly lower expression levels of miR1 and 133, compared with those of adult patients with sinus rhythm.
25944904 The study analyzed HCN4 intracellular region dynamics in the four states of the thermodynamic cycle arising from the coupling between cAMP binding and tetramerization equilibria.
25145518 The symptom complex of sinus node dysfunction and noncompaction cardiomyopathy is associated with heritable HCN4 defects.
25145517 Mutations in ion channel gene HCN4 may be associated with structural abnormalities of the myocardium.
25144323 study establishes the role of f-channels in cardiac automaticity and indicates that arrhythmia related to HCN loss-of-function may be managed by pharmacological or genetic inhibition of GIRK4 channels
24878962 used NMR to probe the changes caused by the binding of cAMP and of cCMP, a partial agonist, to the apo-cAMP-binding domain of HCN4
24607718 study identified a novel trafficking-defective mutation in the amino-terminus of HCN4 channel in individuals with early-onset atrial fibrillation (AF); findings support that novel loss-of-function mutations in the HCN4 channel may increase susceptibility and have a role in AF pathogenesis
24569893 Here, we review the changes in expression and kinetics of HCN4 mutant channels and provide an overview of their effects on If during the time course of a human SAN action potential, both under resting conditions and upon adrenergic stimulation. [review]
24492017 The HCN4-G1097W mutant channels displayed a loss-of-function type modulation on cardiac If channels and thus could predispose them to AV nodal dysfunction. These data provide a novel insight into the genetic basis for the AV block.
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AA Sequence

MDKLPPSMRKRLYSLPQQVGAKAWIMDEEEDAEEEGAGGRQDPSRRSIRLRPLPSPSPSAAAGGTESRSS      1 - 70
ALGAADSEGPARGAGKSSTNGDCRRFRGSLASLGSRGGGSGGTGSGSSHGHLHDSAEERRLIAEGDASPG     71 - 140
EDRTPPGLAAEPERPGASAQPAASPPPPQQPPQPASASCEQPSVDTAIKVEGGAAAGDQILPEAEVRLGQ    141 - 210
AGFMQRQFGAMLQPGVNKFSLRMFGSQKAVEREQERVKSAGFWIIHPYSDFRFYWDLTMLLLMVGNLIII    211 - 280
PVGITFFKDENTTPWIVFNVVSDTFFLIDLVLNFRTGIVVEDNTEIILDPQRIKMKYLKSWFMVDFISSI    281 - 350
PVDYIFLIVETRIDSEVYKTARALRIVRFTKILSLLRLLRLSRLIRYIHQWEEIFHMTYDLASAVVRIVN    351 - 420
LIGMMLLLCHWDGCLQFLVPMLQDFPDDCWVSINNMVNNSWGKQYSYALFKAMSHMLCIGYGRQAPVGMS    421 - 490
DVWLTMLSMIVGATCYAMFIGHATALIQSLDSSRRQYQEKYKQVEQYMSFHKLPPDTRQRIHDYYEHRYQ    491 - 560
GKMFDEESILGELSEPLREEIINFNCRKLVASMPLFANADPNFVTSMLTKLRFEVFQPGDYIIREGTIGK    561 - 630
KMYFIQHGVVSVLTKGNKETKLADGSYFGEICLLTRGRRTASVRADTYCRLYSLSVDNFNEVLEEYPMMR    631 - 700
RAFETVALDRLDRIGKKNSILLHKVQHDLNSGVFNYQENEIIQQIVQHDREMAHCAHRVQAAASATPTPT    701 - 770
PVIWTPLIQAPLQAAAATTSVAIALTHHPRLPAAIFRPPPGSGLGNLGAGQTPRHLKRLQSLIPSALGSA    771 - 840
SPASSPSQVDTPSSSSFHIQQLAGFSAPAGLSPLLPSSSSSPPPGACGSPSAPTPSAGVAATTIAGFGHF    841 - 910
HKALGGSLSSSDSPLLTPLQPGARSPQAAQPSPAPPGARGGLGLPEHFLPPPPSSRSPSSSPGQLGQPPG    911 - 980
ELSLGLATGPLSTPETPPRQPEPPSLVAGASGGASPVGFTPRGGLSPPGHSPGPPRTFPSAPPRASGSHG    981 - 1050
SLLLPPASSPPPPQVPQRRGTPPLTPGRLTQDLKLISASQPALPQDGAQTLRRASPHSSGESMAAFPLFP   1051 - 1120
RAGGGSGGSGSSGGLGPPGRPYGAIPGQHVTLPRKTSSGSLPPPLSLFGARATSSGGPPLTAGPQREPGA   1121 - 1190
RPEPVRSKLPSNL                                                            1191 - 1203
//

Text Mined References (62)

PMID Year Title
26206080 2015 HCN4 mutation as a molecular explanation on patients with bradycardia and non-compaction cardiomyopathy.
26005035 2015 Altered expression of hyperpolarization-activated cyclic nucleotide-gated channels and microRNA-1 and -133 in patients with age-associated atrial fibrillation.
25944904 2015 Role of Dynamics in the Autoinhibition and Activation of the Hyperpolarization-activated Cyclic Nucleotide-modulated (HCN) Ion Channels.
25145518 2014 The symptom complex of familial sinus node dysfunction and myocardial noncompaction is associated with mutations in the HCN4 channel.
25145517 2014 HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy.
25144323 2014 Cardiac arrhythmia induced by genetic silencing of 'funny' (f) channels is rescued by GIRK4 inactivation.
24878962 2014 A mechanism for the auto-inhibition of hyperpolarization-activated cyclic nucleotide-gated (HCN) channel opening and its relief by cAMP.
24607718 2014 A novel trafficking-defective HCN4 mutation is associated with early-onset atrial fibrillation.
24569893 2014 Pacemaker activity of the human sinoatrial node: effects of HCN4 mutations on the hyperpolarization-activated current.
24492017 2014 A novel HCN4 mutation, G1097W, is associated with atrioventricular block.
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