Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	10021
Gene name Gene Name - the full gene name approved by the HGNC.	Hyperpolarization activated cyclic nucleotide gated potassium channel 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	HCN4
Synonyms (NCBI Gene) Gene synonyms aliases	BRGDA8, EIG18, SSS2
Chromosome Chromosome number	15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	15q24.1
Summary Summary of gene provided in NCBI Entrez Gene.	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 me

Show/Hide all(28)

SNP ID	Visualize variation	Clinical significance	Consequence
rs62641689	C>A,T	Likely-pathogenic, likely-benign, benign-likely-benign	Missense variant, coding sequence variant
rs104894485	C>T	Pathogenic	Missense variant, coding sequence variant
rs104894488	G>A,T	Likely-benign, pathogenic	Missense variant, coding sequence variant, synonymous variant
rs121908411	C>G	Pathogenic	Missense variant, coding sequence variant
rs138714806	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs140354126	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs148453034	G>A	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs149033101	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs199638465	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs200303699	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs200507617	C>A,G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, stop gained
rs200546024	G>A	Likely-benign, pathogenic	Coding sequence variant, missense variant
rs200814534	G>C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs201375192	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, genic upstream transcript variant
rs201418838	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant
rs202037304	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs367753936	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs373411041	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs560874115	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant, genic upstream transcript variant
rs562792789	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs727503958	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, coding sequence variant, synonymous variant
rs749785521	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs775803239	G>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs794727637	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1057519015	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057519274	->GGTGAGCACGCTG	Pathogenic	Coding sequence variant, frameshift variant
rs1057519275	A>G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1057519276	G>C	Pathogenic	Coding sequence variant, missense variant

Show/Hide all(230)

miRTarBase ID	miRNA	Experiments	Reference
MIRT000933	hsa-miR-1-3p	qRT-PCR, Luciferase reporter assay, Western blot	18458081
MIRT000933	hsa-miR-1-3p	Luciferase reporter assay	18458081
MIRT000329	hsa-miR-133a-3p	Luciferase reporter assay	18458081
MIRT016694	hsa-miR-133b	Reporter assay;Western blot;qRT-PCR;Other	18458081
MIRT000933	hsa-miR-1-3p	Microarray	18668037
MIRT000933	hsa-miR-1-3p	Reporter assay	18458081
MIRT026129	hsa-miR-192-5p	Microarray	19074876
MIRT536944	hsa-miR-4464	PAR-CLIP	21572407
MIRT536943	hsa-miR-4748	PAR-CLIP	21572407
MIRT536942	hsa-miR-329-5p	PAR-CLIP	21572407
MIRT536941	hsa-miR-5589-3p	PAR-CLIP	21572407
MIRT536940	hsa-miR-6511b-5p	PAR-CLIP	21572407
MIRT536939	hsa-miR-6811-5p	PAR-CLIP	21572407
MIRT536938	hsa-miR-507	PAR-CLIP	21572407
MIRT536937	hsa-miR-557	PAR-CLIP	21572407
MIRT536947	hsa-miR-4731-3p	PAR-CLIP	21572407
MIRT536945	hsa-miR-4801	PAR-CLIP	21572407
MIRT536944	hsa-miR-4464	PAR-CLIP	21572407
MIRT536943	hsa-miR-4748	PAR-CLIP	21572407
MIRT536942	hsa-miR-329-5p	PAR-CLIP	21572407
MIRT536941	hsa-miR-5589-3p	PAR-CLIP	21572407
MIRT536940	hsa-miR-6511b-5p	PAR-CLIP	21572407
MIRT536939	hsa-miR-6811-5p	PAR-CLIP	21572407
MIRT536938	hsa-miR-507	PAR-CLIP	21572407
MIRT536937	hsa-miR-557	PAR-CLIP	21572407
MIRT536947	hsa-miR-4731-3p	PAR-CLIP	21572407
MIRT536945	hsa-miR-4801	PAR-CLIP	21572407
MIRT536944	hsa-miR-4464	PAR-CLIP	21572407
MIRT536943	hsa-miR-4748	PAR-CLIP	21572407
MIRT536942	hsa-miR-329-5p	PAR-CLIP	21572407
MIRT536941	hsa-miR-5589-3p	PAR-CLIP	21572407
MIRT536940	hsa-miR-6511b-5p	PAR-CLIP	21572407
MIRT536939	hsa-miR-6811-5p	PAR-CLIP	21572407
MIRT536938	hsa-miR-507	PAR-CLIP	21572407
MIRT536937	hsa-miR-557	PAR-CLIP	21572407
MIRT536947	hsa-miR-4731-3p	PAR-CLIP	22012620
MIRT536945	hsa-miR-4801	PAR-CLIP	22012620
MIRT536944	hsa-miR-4464	PAR-CLIP	22012620
MIRT536943	hsa-miR-4748	PAR-CLIP	22012620
MIRT536942	hsa-miR-329-5p	PAR-CLIP	22012620
MIRT536941	hsa-miR-5589-3p	PAR-CLIP	22012620
MIRT536940	hsa-miR-6511b-5p	PAR-CLIP	22012620
MIRT536939	hsa-miR-6811-5p	PAR-CLIP	22012620
MIRT536938	hsa-miR-507	PAR-CLIP	22012620
MIRT536937	hsa-miR-557	PAR-CLIP	22012620
MIRT536944	hsa-miR-4464	PAR-CLIP	21572407
MIRT536943	hsa-miR-4748	PAR-CLIP	21572407
MIRT536942	hsa-miR-329-5p	PAR-CLIP	21572407
MIRT536941	hsa-miR-5589-3p	PAR-CLIP	21572407
MIRT536940	hsa-miR-6511b-5p	PAR-CLIP	21572407
MIRT536939	hsa-miR-6811-5p	PAR-CLIP	21572407
MIRT536938	hsa-miR-507	PAR-CLIP	21572407
MIRT536937	hsa-miR-557	PAR-CLIP	21572407
MIRT536947	hsa-miR-4731-3p	PAR-CLIP	21572407
MIRT536945	hsa-miR-4801	PAR-CLIP	21572407
MIRT536944	hsa-miR-4464	PAR-CLIP	21572407
MIRT536943	hsa-miR-4748	PAR-CLIP	21572407
MIRT536942	hsa-miR-329-5p	PAR-CLIP	21572407
MIRT536941	hsa-miR-5589-3p	PAR-CLIP	21572407
MIRT536940	hsa-miR-6511b-5p	PAR-CLIP	21572407
MIRT536939	hsa-miR-6811-5p	PAR-CLIP	21572407
MIRT536938	hsa-miR-507	PAR-CLIP	21572407
MIRT536937	hsa-miR-557	PAR-CLIP	21572407
MIRT536947	hsa-miR-4731-3p	PAR-CLIP	21572407
MIRT536945	hsa-miR-4801	PAR-CLIP	21572407
MIRT536944	hsa-miR-4464	PAR-CLIP	21572407
MIRT536943	hsa-miR-4748	PAR-CLIP	21572407
MIRT536942	hsa-miR-329-5p	PAR-CLIP	21572407
MIRT536941	hsa-miR-5589-3p	PAR-CLIP	21572407
MIRT536940	hsa-miR-6511b-5p	PAR-CLIP	21572407
MIRT536939	hsa-miR-6811-5p	PAR-CLIP	21572407
MIRT536938	hsa-miR-507	PAR-CLIP	21572407
MIRT536937	hsa-miR-557	PAR-CLIP	21572407
MIRT536947	hsa-miR-4731-3p	PAR-CLIP	22012620
MIRT536945	hsa-miR-4801	PAR-CLIP	22012620
MIRT536944	hsa-miR-4464	PAR-CLIP	22012620
MIRT536943	hsa-miR-4748	PAR-CLIP	22012620
MIRT536942	hsa-miR-329-5p	PAR-CLIP	22012620
MIRT536941	hsa-miR-5589-3p	PAR-CLIP	22012620
MIRT536940	hsa-miR-6511b-5p	PAR-CLIP	22012620
MIRT536939	hsa-miR-6811-5p	PAR-CLIP	22012620
MIRT536938	hsa-miR-507	PAR-CLIP	22012620
MIRT536937	hsa-miR-557	PAR-CLIP	22012620
MIRT1042183	hsa-miR-1224-3p	CLIP-seq
MIRT1042184	hsa-miR-1260	CLIP-seq
MIRT1042185	hsa-miR-1260b	CLIP-seq
MIRT1042186	hsa-miR-1280	CLIP-seq
MIRT1042187	hsa-miR-1291	CLIP-seq
MIRT1042188	hsa-miR-141	CLIP-seq
MIRT1042189	hsa-miR-193a-3p	CLIP-seq
MIRT1042190	hsa-miR-193b	CLIP-seq
MIRT1042191	hsa-miR-200a	CLIP-seq
MIRT1042192	hsa-miR-298	CLIP-seq
MIRT1042193	hsa-miR-3179	CLIP-seq
MIRT1042194	hsa-miR-3202	CLIP-seq
MIRT1042195	hsa-miR-328	CLIP-seq
MIRT1042196	hsa-miR-3650	CLIP-seq
MIRT1042197	hsa-miR-3690	CLIP-seq
MIRT1042198	hsa-miR-3936	CLIP-seq
MIRT1042199	hsa-miR-3944-5p	CLIP-seq
MIRT1042200	hsa-miR-412	CLIP-seq
MIRT1042201	hsa-miR-4308	CLIP-seq
MIRT1042202	hsa-miR-4455	CLIP-seq
MIRT1042203	hsa-miR-4701-5p	CLIP-seq
MIRT1042204	hsa-miR-510	CLIP-seq
MIRT1042205	hsa-miR-532-3p	CLIP-seq
MIRT1042206	hsa-miR-588	CLIP-seq
MIRT1042207	hsa-miR-711	CLIP-seq
MIRT1042183	hsa-miR-1224-3p	CLIP-seq
MIRT1042184	hsa-miR-1260	CLIP-seq
MIRT1042185	hsa-miR-1260b	CLIP-seq
MIRT2008867	hsa-miR-1266	CLIP-seq
MIRT1042186	hsa-miR-1280	CLIP-seq
MIRT1042187	hsa-miR-1291	CLIP-seq
MIRT2008868	hsa-miR-1470	CLIP-seq
MIRT2008869	hsa-miR-149	CLIP-seq
MIRT1042194	hsa-miR-3202	CLIP-seq
MIRT1042196	hsa-miR-3650	CLIP-seq
MIRT2008870	hsa-miR-3922-5p	CLIP-seq
MIRT1042198	hsa-miR-3936	CLIP-seq
MIRT1042202	hsa-miR-4455	CLIP-seq
MIRT2008871	hsa-miR-4469	CLIP-seq
MIRT2008872	hsa-miR-4518	CLIP-seq
MIRT2008873	hsa-miR-4667-3p	CLIP-seq
MIRT1042205	hsa-miR-532-3p	CLIP-seq
MIRT2008874	hsa-miR-936	CLIP-seq
MIRT1042183	hsa-miR-1224-3p	CLIP-seq
MIRT2241224	hsa-miR-1252	CLIP-seq
MIRT1042184	hsa-miR-1260	CLIP-seq
MIRT1042185	hsa-miR-1260b	CLIP-seq
MIRT1042186	hsa-miR-1280	CLIP-seq
MIRT2241225	hsa-miR-1285	CLIP-seq
MIRT2008869	hsa-miR-149	CLIP-seq
MIRT2241226	hsa-miR-1587	CLIP-seq
MIRT2241227	hsa-miR-185	CLIP-seq
MIRT2241228	hsa-miR-23a	CLIP-seq
MIRT2241229	hsa-miR-23b	CLIP-seq
MIRT2241230	hsa-miR-23c	CLIP-seq
MIRT1042193	hsa-miR-3179	CLIP-seq
MIRT2241231	hsa-miR-3187-5p	CLIP-seq
MIRT1042194	hsa-miR-3202	CLIP-seq
MIRT1042196	hsa-miR-3650	CLIP-seq
MIRT2241232	hsa-miR-378g	CLIP-seq
MIRT2008870	hsa-miR-3922-5p	CLIP-seq
MIRT1042198	hsa-miR-3936	CLIP-seq
MIRT2241233	hsa-miR-3945	CLIP-seq
MIRT2241234	hsa-miR-4253	CLIP-seq
MIRT2241235	hsa-miR-4306	CLIP-seq
MIRT1042202	hsa-miR-4455	CLIP-seq
MIRT2241236	hsa-miR-4492	CLIP-seq
MIRT2241237	hsa-miR-4498	CLIP-seq
MIRT2241238	hsa-miR-4505	CLIP-seq
MIRT2241239	hsa-miR-4644	CLIP-seq
MIRT2241240	hsa-miR-4656	CLIP-seq
MIRT2241241	hsa-miR-4675	CLIP-seq
MIRT2241242	hsa-miR-4741	CLIP-seq
MIRT2241243	hsa-miR-4747-5p	CLIP-seq
MIRT1042205	hsa-miR-532-3p	CLIP-seq
MIRT2241244	hsa-miR-612	CLIP-seq
MIRT2241245	hsa-miR-762	CLIP-seq
MIRT2241246	hsa-miR-873	CLIP-seq
MIRT2388921	hsa-miR-1271	CLIP-seq
MIRT2388922	hsa-miR-520f	CLIP-seq
MIRT2388923	hsa-miR-636	CLIP-seq
MIRT2388924	hsa-miR-96	CLIP-seq
MIRT2451011	hsa-miR-1193	CLIP-seq
MIRT2451012	hsa-miR-1261	CLIP-seq
MIRT2451013	hsa-miR-1299	CLIP-seq
MIRT2008868	hsa-miR-1470	CLIP-seq
MIRT2451014	hsa-miR-299-3p	CLIP-seq
MIRT2451015	hsa-miR-3134	CLIP-seq
MIRT2451016	hsa-miR-3183	CLIP-seq
MIRT2451017	hsa-miR-339-5p	CLIP-seq
MIRT2451018	hsa-miR-3649	CLIP-seq
MIRT2451019	hsa-miR-3938	CLIP-seq
MIRT2451020	hsa-miR-4287	CLIP-seq
MIRT2008871	hsa-miR-4469	CLIP-seq
MIRT2451021	hsa-miR-4648	CLIP-seq
MIRT2451022	hsa-miR-4654	CLIP-seq
MIRT2008873	hsa-miR-4667-3p	CLIP-seq
MIRT2451023	hsa-miR-4685-3p	CLIP-seq
MIRT2451024	hsa-miR-4723-3p	CLIP-seq
MIRT2451025	hsa-miR-4769-5p	CLIP-seq
MIRT2451026	hsa-miR-4782-5p	CLIP-seq
MIRT2451027	hsa-miR-516b	CLIP-seq
MIRT2451028	hsa-miR-642a	CLIP-seq
MIRT2008868	hsa-miR-1470	CLIP-seq
MIRT2451016	hsa-miR-3183	CLIP-seq
MIRT2451017	hsa-miR-339-5p	CLIP-seq
MIRT2451019	hsa-miR-3938	CLIP-seq
MIRT2451020	hsa-miR-4287	CLIP-seq
MIRT2008871	hsa-miR-4469	CLIP-seq
MIRT2008873	hsa-miR-4667-3p	CLIP-seq
MIRT2451023	hsa-miR-4685-3p	CLIP-seq
MIRT2451024	hsa-miR-4723-3p	CLIP-seq
MIRT2451028	hsa-miR-642a	CLIP-seq
MIRT1042187	hsa-miR-1291	CLIP-seq
MIRT2008868	hsa-miR-1470	CLIP-seq
MIRT2451016	hsa-miR-3183	CLIP-seq
MIRT1042195	hsa-miR-328	CLIP-seq
MIRT2451017	hsa-miR-339-5p	CLIP-seq
MIRT1042197	hsa-miR-3690	CLIP-seq
MIRT2451019	hsa-miR-3938	CLIP-seq
MIRT2544816	hsa-miR-4268	CLIP-seq
MIRT2544817	hsa-miR-4283	CLIP-seq
MIRT2451020	hsa-miR-4287	CLIP-seq
MIRT1042201	hsa-miR-4308	CLIP-seq
MIRT2008871	hsa-miR-4469	CLIP-seq
MIRT2008873	hsa-miR-4667-3p	CLIP-seq
MIRT2451023	hsa-miR-4685-3p	CLIP-seq
MIRT2451024	hsa-miR-4723-3p	CLIP-seq
MIRT2451028	hsa-miR-642a	CLIP-seq
MIRT1042207	hsa-miR-711	CLIP-seq
MIRT1042187	hsa-miR-1291	CLIP-seq
MIRT2008868	hsa-miR-1470	CLIP-seq
MIRT2451016	hsa-miR-3183	CLIP-seq
MIRT1042195	hsa-miR-328	CLIP-seq
MIRT2451017	hsa-miR-339-5p	CLIP-seq
MIRT1042197	hsa-miR-3690	CLIP-seq
MIRT2451019	hsa-miR-3938	CLIP-seq
MIRT2544816	hsa-miR-4268	CLIP-seq
MIRT2544817	hsa-miR-4283	CLIP-seq
MIRT2451020	hsa-miR-4287	CLIP-seq
MIRT1042201	hsa-miR-4308	CLIP-seq
MIRT2008871	hsa-miR-4469	CLIP-seq
MIRT2008873	hsa-miR-4667-3p	CLIP-seq
MIRT2451023	hsa-miR-4685-3p	CLIP-seq
MIRT2451024	hsa-miR-4723-3p	CLIP-seq
MIRT2451028	hsa-miR-642a	CLIP-seq
MIRT1042207	hsa-miR-711	CLIP-seq

Transcription factors

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Transcription factor	Regulation	Reference
SP1	Activation	19471099

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0002027	Process	Regulation of heart rate	IMP	16407510
GO:0003163	Process	Sinoatrial node development	NAS	26786210
GO:0003254	Process	Regulation of membrane depolarization	IBA
GO:0003254	Process	Regulation of membrane depolarization	IDA	12750403, 16043489
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005222	Function	Intracellularly cAMP-activated cation channel activity	IDA	10228147, 12750403, 16407510
GO:0005248	Function	Voltage-gated sodium channel activity	IMP	22748890
GO:0005249	Function	Voltage-gated potassium channel activity	IBA
GO:0005249	Function	Voltage-gated potassium channel activity	IDA	16407510
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IMP	22748890
GO:0005267	Function	Potassium channel activity	IEA
GO:0005272	Function	Sodium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	33961781, 37207277
GO:0005886	Component	Plasma membrane	IDA	12750403, 16407510, 22748890
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006812	Process	Monoatomic cation transport	IDA	12750403
GO:0006813	Process	Potassium ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006936	Process	Muscle contraction	TAS	10228147
GO:0008015	Process	Blood circulation	NAS	10228147
GO:0016020	Component	Membrane	IEA
GO:0030424	Component	Axon	IBA
GO:0030425	Component	Dendrite	IBA
GO:0030552	Function	CAMP binding	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0035725	Process	Sodium ion transmembrane transport	IMP	22748890
GO:0042391	Process	Regulation of membrane potential	IMP	22748890
GO:0042802	Function	Identical protein binding	IPI	22006928, 24776929
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	12750403
GO:0055085	Process	Transmembrane transport	IEA
GO:0055117	Process	Regulation of cardiac muscle contraction	IMP	12750403
GO:0071320	Process	Cellular response to cAMP	IDA	12750403, 16043489, 16407510, 22748890
GO:0071320	Process	Cellular response to cAMP	IEA
GO:0071321	Process	Cellular response to cGMP	IDA	22748890
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IDA	16407510
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IMP	22748890
GO:0086012	Process	Membrane depolarization during cardiac muscle cell action potential	IC	10228147
GO:0086015	Process	SA node cell action potential	IMP	12750403
GO:0086041	Function	Voltage-gated potassium channel activity involved in SA node cell action potential depolarization	IMP	16407510
GO:0086046	Process	Membrane depolarization during SA node cell action potential	IMP	16407510
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	12750403
GO:0086091	Process	Regulation of heart rate by cardiac conduction	NAS	20829353
GO:0098719	Process	Sodium ion import across plasma membrane	IDA	10228147
GO:0098719	Process	Sodium ion import across plasma membrane	NAS	20829353
GO:0098855	Component	HCN channel complex	IBA
GO:0098855	Component	HCN channel complex	IDA	10228147, 16407510
GO:0098855	Component	HCN channel complex	IEA
GO:0098855	Component	HCN channel complex	IPI	20829353
GO:0098907	Process	Regulation of SA node cell action potential	NAS	20829353
GO:0098909	Process	Regulation of cardiac muscle cell action potential involved in regulation of contraction	IMP	16407510
GO:1990573	Process	Potassium ion import across plasma membrane	IDA	10228147
GO:1990573	Process	Potassium ion import across plasma membrane	NAS	20829353

MIM	HGNC	e!Ensembl
605206	16882	ENSG00000138622

Protein

UniProt ID

Q9Y3Q4

Protein name

Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4

Protein function

Hyperpolarization-activated ion channel that are permeable to Na(+) and K(+) ions with very slow activation and inactivation (PubMed:10228147, PubMed:10430953, PubMed:20829353). Exhibits higher selectivity for K(+) over Na(+) ions (PubMed:102281

PDB

2MNG , 3OTF , 3U11 , 4HBN , 4KL1 , 4NVP , 6GYN , 6GYO

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08412	Ion_trans_N	218 → 261	Ion transport protein N-terminal	Family
PF00520	Ion_trans	262 → 525	Ion transport protein	Family
PF00027	cNMP_binding	613 → 696	Cyclic nucleotide-binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in thalamus, testis and in heart, both in ventricle and atrium. Detected at much lower levels in amygdala, substantia nigra, cerebellum and hippocampus. {ECO:0000269|PubMed:10228147, ECO:0000269|PubMed:10430953}.

Sequence

MDKLPPSMRKRLYSLPQQVGAKAWIMDEEEDAEEEGAGGRQDPSRRSIRLRPLPSPSPSA
AAGGTESRSSALGAADSEGPARGAGKSSTNGDCRRFRGSLASLGSRGGGSGGTGSGSSHG
HLHDSAEERRLIAEGDASPGEDRTPPGLAAEPERPGASAQPAASPPPPQQPPQPASASCE
QPSVDTAIKVEGGAAAGDQILPEAEVRLGQAGFMQRQFGAMLQPGVNKFSLRMFGSQKAV
EREQERVKSAGFWIIHPYSDFRFYWDLTMLLLMVGNLIIIPVGITFFKDENTTPWIVFNV
VSDTFFLIDLVLNFRTGIVVEDNTEIILDPQRIKMKYLKSWFMVDFISSIPVDYIFLIVE
TRIDSEVYKTARALRIVRFTKILSLLRLLRLSRLIRYIHQWEEIFHMTYDLASAVVRIVN
LIGMMLLLCHWDGCLQFLVPMLQDFPDDCWVSINNMVNNSWGKQYSYALFKAMSHMLCIG
YGRQAPVGMSDVWLTMLSMIVGATCYAMFIGHATALIQSLDSSRRQYQEKYKQVEQYMSF
HKLPPDTRQRIHDYYEHRYQGKMFDEESILGELSEPLREEIINFNCRKLVASMPLFANAD
PNFVTSMLTKLRFEVFQPGDYIIREGTIGKKMYFIQHGVVSVLTKGNKETKLADGSYFGE
ICLLTRGRRTASVRADTYCRLYSLSVDNFNEVLEEYPMMRRAFETVALDRLDRIGKKNSI
LLHKVQHDLNSGVFNYQENEIIQQIVQHDREMAHCAHRVQAAASATPTPTPVIWTPLIQA
PLQAAAATTSVAIALTHHPRLPAAIFRPPPGSGLGNLGAGQTPRHLKRLQSLIPSALGSA
SPASSPSQVDTPSSSSFHIQQLAGFSAPAGLSPLLPSSSSSPPPGACGSPSAPTPSAGVA
ATTIAGFGHFHKALGGSLSSSDSPLLTPLQPGARSPQAAQPSPAPPGARGGLGLPEHFLP
PPPSSRSPSSSPGQLGQPPGELSLGLATGPLSTPETPPRQPEPPSLVAGASGGASPVGFT
PRGGLSPPGHSPGPPRTFPSAPPRASGSHGSLLLPPASSPPPPQVPQRRGTPPLTPGRLT
QDLKLISASQPALPQDGAQTLRRASPHSSGESMAAFPLFPRAGGGSGGSGSSGGLGPPGR
PYGAIPGQHVTLPRKTSSGSLPPPLSLFGARATSSGGPPLTAGPQREPGARPEPVRSKLP
SNL

Sequence length

1203

Interactions

View interactions

	KEGG		Reactome
	cAMP signaling pathway Taste transduction		HCN channels

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Brugada Syndrome	brugada syndrome 8	rs794727637, rs1057519275, rs1060500103, rs1555475434, rs755356387, rs1060500107	N/A
Sick Sinus Syndrome	sick sinus syndrome 2, autosomal dominant	rs1057519275, rs1057519276, rs104894488, rs1057519015, rs121908411, rs1057519274, rs794727637	N/A

Show/Hide Unknown Diseases (14)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
arrhythmogenic right ventricular cardiomyopathy	Arrhythmogenic right ventricular cardiomyopathy	N/A	N/A	ClinVar
Atrial Fibrillation	atrial fibrillation, Atrial fibrillation	N/A	N/A	ClinVar, GWAS
cardiac arrhythmia	Cardiac arrhythmia	N/A	N/A	ClinVar
cardiomyopathy	Cardiomyopathy	N/A	N/A	ClinVar
Cardiomyopathy	Primary dilated cardiomyopathy	N/A	N/A	ClinVar
Congestive Heart Failure	congestive heart failure	N/A	N/A	ClinVar
Hypertrophic cardiomyopathy	hypertrophic cardiomyopathy	N/A	N/A	ClinVar
Insomnia	Insomnia	N/A	N/A	GWAS
Left ventricular noncompaction	left ventricular noncompaction	N/A	N/A	ClinVar
Long QT Syndrome	long qt syndrome	N/A	N/A	ClinVar
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Schizophrenia	Schizophrenia	N/A	N/A	GWAS
Thoracic Aortic Aneurysm And Aortic Dissection	familial thoracic aortic aneurysm and aortic dissection	N/A	N/A	GenCC
ventricular tachycardia	Ventricular tachycardia	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (37)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Acute Coronary Syndrome	Associate	28666417
Anxiety Disorders	Associate	21529705
Arrhythmias Cardiac	Associate	36244448
Atrial Fibrillation	Associate	25953654, 31315459
Atrial Fibrillation	Stimulate	26005035
Atrial Remodeling	Associate	31315459
Bradycardia	Associate	34004232, 35219649, 35328031, 35864219
Brugada Syndrome	Associate	22840528
Cardiac Complexes Premature	Associate	26005035
Cardiomyopathies	Associate	38032931
Cardiomyopathy Dilated	Associate	30471092, 36332467
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Associate	35328031, 35893073
Coronary Artery Disease	Associate	28666417
Dissection Ascending Aorta	Associate	35328031
Epilepsy	Associate	33208499
Focal cortical dysplasia of Taylor	Associate	33208499
Heart Defects Congenital	Associate	27218255
Heart Diseases	Associate	27439367
Heart Failure	Associate	32692755
Hirschsprung Disease	Associate	25987789
Isolated Noncompaction of the Ventricular Myocardium	Associate	30471092
Late Onset Disorders	Associate	31315459
Leukemia Lymphoma Adult T Cell	Associate	34446027
Long QT Syndrome	Associate	28648120, 36244448
Mood Disorders	Associate	21529705
Noncompaction of Left Ventricular Myocardium Familial Isolated Autosomal Dominant 1	Associate	33500567, 35328031
Obsessive Compulsive Disorder	Associate	21529705
Pneumonia Ventilator Associated	Associate	22916119
Seizures	Associate	33208499
Sick Sinus Syndrome	Associate	16407510, 34004232, 35328031, 36244448
Sick Sinus Syndrome 1 Autosomal Recessive	Associate	28174302
Sudden Unexpected Death in Epilepsy	Associate	21615589
Tachycardia Sinus	Associate	38032931
Tachycardia Ventricular	Associate	36244448
Tuberculosis Meningeal	Associate	29460132
Tuberous Sclerosis	Associate	33208499
Ventricular Fibrillation	Associate	36244448

HCN4 (hyperpolarization activated cyclic nucleotide gated potassium channel 4)