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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10021
Gene name	Hyperpolarization activated cyclic nucleotide gated potassium channel 4
Gene symbol	HCN4
Synonyms (NCBI Gene)	BRGDA8EIG18SSS2
Chromosome	15
Chromosome location	15q24.1
Summary	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

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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

230

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miRTarBase ID	miRNA	Experiments	Reference
MIRT000933	hsa-miR-1-3p	qRT-PCRLuciferase reporter assayWestern 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

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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

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Brugada syndrome 8	Likely pathogenic; Pathogenic	rs2151221183, rs2151217044, rs1454748709, rs794727637, rs2549068917, rs1057519275, rs1060500103, rs1555475434, rs755356387, rs1060500107, rs121908411	RCV001894498 RCV002020237 RCV003505193 RCV000647252 RCV002876341 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs1454748709, rs794727637, rs1057519275, rs755356387, rs121908411	RCV002391369 RCV002390435 RCV006342257 RCV003163166 RCV002393656	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HCN4-related disorder	Likely pathogenic; Pathogenic	rs2151221183, rs2549071412, rs121908411	RCV003387535 RCV004534376 RCV005866892	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Left ventricular noncompaction cardiomyopathy	Likely pathogenic; Pathogenic	rs2151217037, rs1454748709, rs1384829419, rs121908411	RCV002208729 RCV002204524 RCV002269250 RCV001254756	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sick sinus syndrome 2, autosomal dominant	Pathogenic; Likely pathogenic	rs104894488, rs1057519015, rs121908411, rs1057519274, rs794727637, rs1057519275, rs1057519276	RCV000005481 RCV000005482 RCV000005484 RCV000415565 RCV000415605 RCV000415538 RCV000415571 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (37)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Arrhythmogenic right ventricular cardiomyopathy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial fibrillation	Benign; Likely benign; Uncertain significance	ClinVar CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ATRIAL FLUTTER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brugada syndrome	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BRUGADA SYNDROME 1	—	ClinGen, Disgenet ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiac arrest	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cardiac arrhythmia	Conflicting classifications of pathogenicity	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CARDIOEMBOLIC STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, GENERALIZED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, idiopathic generalized, susceptibility to, 18	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL SICK SINUS SYNDROME	—	Disgenet, GenCC Disgenet, GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GILLES DE LA TOURETTE SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Benign; Likely benign; Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Benign; Likely benign; Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MARFAN SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SICK SINUS SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SICK SINUS SYNDROME 2	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sinoatrial node disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sinus bradycardia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STEVENS-JOHNSON SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sudden cardiac death	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOXIC EPIDERMAL NECROLYSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular tachycardia	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (90)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anxiety Disorders	Anxiety Disorder	BEFREE	21529705		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety disorder	Pubtator	21529705	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	36244448	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	26688388		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	GWASDB_DG	22544366		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	22544366, 30061737		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	22544366		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrial Fibrillation	Atrial Fibrillation	BEFREE	23178648, 24607718, 24825742, 25391453, 25953654, 27824142, 28104484, 30606942, 31481236		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrial Fibrillation	Atrial fibrillation	Pubtator	25953654, 31315459	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrial Fibrillation	Atrial fibrillation	Pubtator	26005035	Stimulate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrial Fibrillation	Atrial Fibrillation	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrioventricular Block	Atrioventricular block	BEFREE	24492017		★★★★★ ★☆☆☆☆ Found in Text Mining only
Behavioral tic	Tourette syndrome	BEFREE	31481236		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bradycardia	Bradycardia	Pubtator	34004232, 35219649, 35328031, 35864219	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brugada syndrome	Brugada Syndrome	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brugada Syndrome	Brugada syndrome	Pubtator	22840528	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brugada Syndrome (disorder)	Brugada Syndrome	CLINGEN_DG	15123648, 19165230, 22840528, 27553229		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	BEFREE	27553229, 30452770		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brugada Syndrome 1	Brugada Syndrome	CLINGEN_DG	15123648, 19165230, 22840528, 27553229		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brugada Syndrome 8	Brugada Syndrome	GENOMICS_ENGLAND_DG	16301704, 17646576, 27761167		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Brugada Syndrome 8	Brugada Syndrome	CLINVAR_DG	25145517, 25145518, 26206080		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Brugada Syndrome 8	Brugada Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)	Cardiac conduction disease	CLINGEN_DG	15123648, 19165230, 22840528, 27553229		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	38032931	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	30471092, 36332467	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Dilated cardiomyopathy	Pubtator	35328031, 35893073	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	23663261, 29628472		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conduction disorder of the heart	Conduction Disorder Of The Heart	BEFREE	30578647		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	27218255, 27553229		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28352365, 29807331, 30606942, 31337768		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	28666417	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dissection Ascending Aorta	Dissection of aorta	Pubtator	35328031	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30127718		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	33208499	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial sick sinus syndrome	Sick Sinus Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	CLINGEN_DG	23743334, 27173043		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
First degree atrioventricular block	Atrioventricular block	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia of Taylor	Focal cortical dysplasia	Pubtator	33208499	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	BEFREE	31045576		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	27218255	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	27439367	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	31481236		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28352365, 29807331, 30606942, 31337768		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	32692755	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	25987789	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	30998977		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	20207172		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	20207172		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	27218255		★★★★★ ★☆☆☆☆ Found in Text Mining only
Left ventricular noncompaction	Left ventricular noncompaction	BEFREE	28104484, 29349559		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction cardiomyopathy	Cardiomyopathy	BEFREE	25145517, 28104484		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Long QT Syndrome	Long QT Syndrome	BEFREE	19165230, 28648120		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long QT Syndrome	Long qt syndrome	Pubtator	28648120, 36244448	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Mental Retardation	Mental retardation	BEFREE	27218255		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	21529705		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	PSYGENET_DG	21529705		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood disorder	Pubtator	21529705	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-compaction cardiomyopathy	Noncompaction cardiomyopathy	BEFREE	26206080		★★★★★ ★☆☆☆☆ Found in Text Mining only
Noncompaction cardiomyopathy	Noncompaction cardiomyopathy	BEFREE	25145518		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	21529705		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	22544366, 30061737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal familial ventricular fibrillation	Paroxysmal ventricular fibrillation	BEFREE	15123648		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal ventricular tachycardia	Paroxysmal ventricular tachycardia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Right bundle branch block	Bundle Branch Block	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	33208499	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	16407510, 34004232, 35328031, 36244448	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sick Sinus Syndrome	Sick Sinus Syndrome	BEFREE	19165230, 28104484, 28465117, 31751569		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sick Sinus Syndrome	Sick Sinus Syndrome	ORPHANET_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sick Sinus Syndrome	Sick Sinus Syndrome	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sick Sinus Syndrome 1 Autosomal Recessive	Sick sinus syndrome	Pubtator	28174302	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE	Sick Sinus Syndrome	BEFREE	29315578		★★★★★ ★☆☆☆☆ Found in Text Mining only
SICK SINUS SYNDROME 2 WITH CARDIAC NONCOMPACTION AND ASCENDING AORTA DILATION	SICK SINUS SYNDROME WITH CARDIAC NONCOMPACTION AND ASCENDING AORTA DILATION	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome 2, Autosomal Dominant	Sick Sinus Syndrome	UNIPROT_DG	15123648, 16407510, 20662977, 23103389		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sick Sinus Syndrome 2, Autosomal Dominant	Sick Sinus Syndrome	GENOMICS_ENGLAND_DG	16301704, 17646576, 27761167		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sick Sinus Syndrome 2, Autosomal Dominant	Sick Sinus Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sick Sinus Syndrome 2, Autosomal Dominant	Sick Sinus Syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sinus Node Dysfunction (disorder)	Sinus Node Dysfunction	BEFREE	12750403, 15123648, 24569893, 24825742, 25145518, 25642760, 28821541		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sinus Node Dysfunction (disorder)	Sinus Node Dysfunction	CLINGEN_DG	15123648, 19165230, 22840528, 27553229		★★★★★ ★☆☆☆☆ Found in Text Mining only
Supraventricular tachycardia	Supraventricular tachycardia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tachycardia Ventricular	Ventricular tachycardia	Pubtator	36244448	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	BEFREE	19165230		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tic disorder	Tic Disorder	BEFREE	31481236		★★★★★ ★☆☆☆☆ Found in Text Mining only
Trifascicular block	Trifascicular block	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous sclerosis complex	Pubtator	33208499	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	19165230, 20207172		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	36244448	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular tachycardia, polymorphic	Ventricular tachycardia	BEFREE	15123648		★★★★★ ★☆☆☆☆ Found in Text Mining only

HCN4 (hyperpolarization activated cyclic nucleotide gated potassium channel 4)