HCN4

HCN4
Structures disponibles
PDB	Recherche d'orthologue: PDBe RCSB
Identifiants PDB
	2MNG, 3OTF, 3U11, 4HBN, 4KL1, 4NVP
Identifiants
Aliases	HCN4
IDs externes	OMIM: 605206 MGI: 1298209 HomoloGene: 3997 GeneCards: HCN4
Position du gène (Homme)
Chr.	Chromosome 15 humain
Fin	73,368,958 bp
Position du gène (Souris)
Chr.	Chromosome 9 (souris)
Fin	58,770,458 bp
Expression génétique
	Fortement exprimé dans
	muscle tibial antérieur; ; atrium droit; ; ventricule gauche; ; secondary oocyte; ; ventricule droit; ; îlot de Langerhans; ; pancreatic ductal cell; ; éminence ganglionnaire; ; muscle deltoïde; ; cortex préfrontal;
	Fortement exprimé dans
	myocarde; ; myocarde; ; conduction cardiaque; ; sinus venosus; ; atrium droit; ; nœud sinusal; ; septum transversum; ; veine; ; veine cave; ; système nerveux périphérique;
	Plus de données d'expression de référence
	Plus de données d'expression de référence
Gene Ontology
Fonction moléculaire	liaison nucléotide; potassium channel activity; cAMP binding; sodium channel activity; voltage-gated ion channel activity; ion channel activity; intracellular cAMP-activated cation channel activity; identical protein binding; voltage-gated potassium channel activity; voltage-gated sodium channel activity; voltage-gated potassium channel activity involved in SA node cell action potential depolarization;
Composant cellulaire	integral component of membrane; membrane; intrinsic component of plasma membrane; membrane plasmique; perinuclear region of cytoplasm; HCN channel complex;
Processus biologique	cellular response to cGMP; contraction musculaire; sodium ion transmembrane transport; sodium ion transport; SA node cell action potential; regulation of membrane potential; regulation of ion transmembrane transport; cation transport; ion transport; circulation sanguine; regulation of membrane depolarization; regulation of heart rate; potassium ion transport; transport transmembranaire; potassium ion transmembrane transport; regulation of cardiac muscle contraction; regulation of heart rate by cardiac conduction; cellular response to cAMP; membrane depolarization during cardiac muscle cell action potential; membrane depolarization during SA node cell action potential; sodium ion import across plasma membrane; regulation of cardiac muscle cell action potential involved in regulation of contraction; potassium ion import across plasma membrane;
	Sources:Amigo / QuickGO
Orthologues
	10021
	330953
	ENSG00000138622
	ENSMUSG00000032338
	Q9Y3Q4
	O70507
	NM_005477
	NM_001081192
	NP_005468
	NP_001074661
	Wikidata
Voir/Editer Humain	Voir/Editer Souris

HCN4 est un canal ionique intervenant dans le courant if. Son gène est le HCN4 situé sur le chromosome 15 humain.

La mutation du gène peut être responsable d'une bradycardie^[5], et parfois, d'une non compaction ventriculaire gauche^[6] ou d'une dilatation de l'aorte ascendante^[7]. Une autre mutation, avec gain de fonction, peut provoquer une tachycardie sinusale inappropriée familiale^[8].

Notes et références modifier

↑ ^{a b et c} GRCh38: Ensembl release 89: ENSG00000138622 - Ensembl, May 2017
↑ ^{a b et c} GRCm38: Ensembl release 89: ENSMUSG00000032338 - Ensembl, May 2017
↑ « Publications PubMed pour l'Homme », sur National Center for Biotechnology Information, U.S. National Library of Medicine
↑ « Publications PubMed pour la Souris », sur National Center for Biotechnology Information, U.S. National Library of Medicine
↑ Nof E, Luria D, Brass D et al. Point mutation in the HCN4 cardiac ion channel pore affecting synthesis, trafficking, and functional expression is associated with familial asymptomatic sinus bradycardia, Circulation, 2007;116:463–470
↑ Milano A, Vermeer A, Lodder EM et al. HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy, JACC, 2014;64:745-756
↑ Vermeer AM, Lodder EM, Thomas D et all. Dilation of the aorta ascendens forms part of the clinical spectrum of HCN4 mutations, 2016;67:2313-2315
↑ Baruscotti M, Bucchi A, Milanesi R et al. A gain-of-function mutation in the cardiac pacemaker HCN4 channel increasing cAMP sensitivity is associated with familial Inappropriate Sinus Tachycardia, Eur Heart J, 2017;38:280–288

[refGRCh38Ensembl-1] {a b et c} GRCh38: Ensembl release 89: ENSG00000138622 - Ensembl, May 2017

[refGRCm38Ensembl-2] {a b et c} GRCm38: Ensembl release 89: ENSMUSG00000032338 - Ensembl, May 2017

[3] « Publications PubMed pour l'Homme », sur National Center for Biotechnology Information, U.S. National Library of Medicine

[4] « Publications PubMed pour la Souris », sur National Center for Biotechnology Information, U.S. National Library of Medicine

[5] Nof E, Luria D, Brass D et al. Point mutation in the HCN4 cardiac ion channel pore affecting synthesis, trafficking, and functional expression is associated with familial asymptomatic sinus bradycardia, Circulation, 2007;116:463–470

[6] Milano A, Vermeer A, Lodder EM et al. HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy, JACC, 2014;64:745-756

[7] Vermeer AM, Lodder EM, Thomas D et all. Dilation of the aorta ascendens forms part of the clinical spectrum of HCN4 mutations, 2016;67:2313-2315

[8] Baruscotti M, Bucchi A, Milanesi R et al. A gain-of-function mutation in the cardiac pacemaker HCN4 channel increasing cAMP sensitivity is associated with familial Inappropriate Sinus Tachycardia, Eur Heart J, 2017;38:280–288

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