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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	348980
Gene name Gene Name - the full gene name approved by the HGNC.	Hyperpolarization activated cyclic nucleotide gated potassium channel 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	HCN1
Synonyms (NCBI Gene) Gene synonyms aliases	BCNG-1, BCNG1, DEE24, EIEE24, GEFSP10, HAC-2
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5p12
Summary Summary of gene provided in NCBI Entrez Gene.	The membrane protein encoded by this gene is a hyperpolarization-activated cation channel that contributes to the native pacemaker currents in heart and neurons. The encoded protein can homodimerize or heterodimerize with other pore-forming subunits to fo

Show/Hide all(19)

SNP ID	Visualize variation	Clinical significance	Consequence
rs373454105	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs373664268	G>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs376434225	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs587777491	C>G	Pathogenic	Coding sequence variant, missense variant
rs587777492	G>A	Pathogenic	Coding sequence variant, missense variant
rs587777493	A>G	Pathogenic	Coding sequence variant, missense variant
rs587777494	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs587777495	G>A	Pathogenic	Coding sequence variant, missense variant
rs1057519547	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519548	C>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057521989	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1318391259	C>A,G	Pathogenic	Missense variant, coding sequence variant
rs1554037381	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554040120	G>-	Likely-pathogenic	Coding sequence variant, stop gained
rs1561081319	C>T	Pathogenic	Coding sequence variant, missense variant
rs1561120793	C>T	Pathogenic	Coding sequence variant, missense variant
rs1561139569	C>T	Pathogenic	Coding sequence variant, missense variant
rs1561230486	A>C	Pathogenic	Coding sequence variant, missense variant
rs1561230606	G>C	Pathogenic	Coding sequence variant, missense variant

Show/Hide all(62)

miRTarBase ID	miRNA	Experiments	Reference
MIRT442782	hsa-miR-4662a-5p	PAR-CLIP	22100165
MIRT442782	hsa-miR-4662a-5p	PAR-CLIP	22100165
MIRT1042079	hsa-miR-105	CLIP-seq
MIRT1042080	hsa-miR-1178	CLIP-seq
MIRT1042081	hsa-miR-135a	CLIP-seq
MIRT1042082	hsa-miR-135b	CLIP-seq
MIRT1042083	hsa-miR-2054	CLIP-seq
MIRT1042084	hsa-miR-214	CLIP-seq
MIRT1042085	hsa-miR-300	CLIP-seq
MIRT1042086	hsa-miR-3119	CLIP-seq
MIRT1042087	hsa-miR-3160-5p	CLIP-seq
MIRT1042088	hsa-miR-3619-5p	CLIP-seq
MIRT1042089	hsa-miR-3665	CLIP-seq
MIRT1042090	hsa-miR-374c	CLIP-seq
MIRT1042091	hsa-miR-381	CLIP-seq
MIRT1042092	hsa-miR-3907	CLIP-seq
MIRT1042093	hsa-miR-3924	CLIP-seq
MIRT1042094	hsa-miR-4291	CLIP-seq
MIRT1042095	hsa-miR-4495	CLIP-seq
MIRT1042096	hsa-miR-4652-3p	CLIP-seq
MIRT1042097	hsa-miR-500a	CLIP-seq
MIRT1042098	hsa-miR-514	CLIP-seq
MIRT1042099	hsa-miR-514b-3p	CLIP-seq
MIRT1042100	hsa-miR-544	CLIP-seq
MIRT1042101	hsa-miR-654-3p	CLIP-seq
MIRT1042102	hsa-miR-655	CLIP-seq
MIRT1042103	hsa-miR-761	CLIP-seq
MIRT1042104	hsa-miR-764	CLIP-seq
MIRT1042105	hsa-miR-885-5p	CLIP-seq
MIRT1042106	hsa-miR-922	CLIP-seq
MIRT2008840	hsa-miR-2116	CLIP-seq
MIRT1042084	hsa-miR-214	CLIP-seq
MIRT2008841	hsa-miR-297	CLIP-seq
MIRT2008842	hsa-miR-3616-5p	CLIP-seq
MIRT1042088	hsa-miR-3619-5p	CLIP-seq
MIRT2008843	hsa-miR-3647-5p	CLIP-seq
MIRT1042094	hsa-miR-4291	CLIP-seq
MIRT2008844	hsa-miR-4677-5p	CLIP-seq
MIRT2008845	hsa-miR-4695-3p	CLIP-seq
MIRT2008846	hsa-miR-4742-3p	CLIP-seq
MIRT1042098	hsa-miR-514	CLIP-seq
MIRT1042099	hsa-miR-514b-3p	CLIP-seq
MIRT1042100	hsa-miR-544	CLIP-seq
MIRT2008847	hsa-miR-567	CLIP-seq
MIRT2008848	hsa-miR-573	CLIP-seq
MIRT1042103	hsa-miR-761	CLIP-seq
MIRT1042106	hsa-miR-922	CLIP-seq
MIRT1042084	hsa-miR-214	CLIP-seq
MIRT1042088	hsa-miR-3619-5p	CLIP-seq
MIRT1042094	hsa-miR-4291	CLIP-seq
MIRT1042097	hsa-miR-500a	CLIP-seq
MIRT1042098	hsa-miR-514	CLIP-seq
MIRT1042099	hsa-miR-514b-3p	CLIP-seq
MIRT1042100	hsa-miR-544	CLIP-seq
MIRT1042103	hsa-miR-761	CLIP-seq
MIRT1042105	hsa-miR-885-5p	CLIP-seq
MIRT1042106	hsa-miR-922	CLIP-seq
MIRT2544811	hsa-miR-1303	CLIP-seq
MIRT2544812	hsa-miR-4436b-5p	CLIP-seq
MIRT2544813	hsa-miR-4514	CLIP-seq
MIRT2544814	hsa-miR-4661-3p	CLIP-seq
MIRT2544815	hsa-miR-4692	CLIP-seq

Show/Hide all(83)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003254	Process	Regulation of membrane depolarization	IBA
GO:0003254	Process	Regulation of membrane depolarization	IDA	16043489
GO:0003254	Process	Regulation of membrane depolarization	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005222	Function	Intracellularly cAMP-activated cation channel activity	IEA
GO:0005222	Function	Intracellularly cAMP-activated cation channel activity	ISS
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	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IMP	22748890
GO:0005249	Function	Voltage-gated potassium channel activity	ISS
GO:0005267	Function	Potassium channel activity	IEA
GO:0005267	Function	Potassium channel activity	NAS	9405696
GO:0005272	Function	Sodium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	26966193, 33961781, 37207277
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IEA
GO:0005547	Function	Phosphatidylinositol-3,4,5-trisphosphate binding	IEA
GO:0005886	Component	Plasma membrane	IDA	22748890, 28086084, 30351409
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0009986	Component	Cell surface	IEA
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0019228	Process	Neuronal action potential	IEA
GO:0022843	Function	Voltage-gated monoatomic cation channel activity	IDA	28086084
GO:0030424	Component	Axon	IBA
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IBA
GO:0030425	Component	Dendrite	IEA
GO:0030552	Function	CAMP binding	IDA	28086084
GO:0030552	Function	CAMP binding	IEA
GO:0030552	Function	CAMP binding	ISS
GO:0032590	Component	Dendrite membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0035458	Process	Cellular response to interferon-beta	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0035725	Process	Sodium ion transmembrane transport	IMP	22748890
GO:0036477	Component	Somatodendritic compartment	IEA
GO:0042391	Process	Regulation of membrane potential	IMP	22748890
GO:0042711	Process	Maternal behavior	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043198	Component	Dendritic shaft	IEA
GO:0043679	Component	Axon terminus	IEA
GO:0045176	Process	Apical protein localization	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045759	Process	Negative regulation of action potential	IEA
GO:0046549	Process	Retinal cone cell development	IEA
GO:0048787	Component	Presynaptic active zone membrane	IEA
GO:0051289	Process	Protein homotetramerization	IDA	28086084
GO:0051592	Process	Response to calcium ion	IEA
GO:0051867	Process	General adaptation syndrome, behavioral process	IEA
GO:0051967	Process	Negative regulation of synaptic transmission, glutamatergic	ISO
GO:0055085	Process	Transmembrane transport	IEA
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0071320	Process	Cellular response to cAMP	IDA	16043489, 22748890
GO:0071320	Process	Cellular response to cAMP	IEA
GO:0071320	Process	Cellular response to cAMP	IMP	28086084
GO:0071320	Process	Cellular response to cAMP	ISS
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IMP	22748890
GO:0071805	Process	Potassium ion transmembrane transport	ISS
GO:0086091	Process	Regulation of heart rate by cardiac conduction	NAS	16043489
GO:0097440	Component	Apical dendrite	IEA
GO:0098719	Process	Sodium ion import across plasma membrane	NAS	16043489
GO:0098855	Component	HCN channel complex	IBA
GO:0098855	Component	HCN channel complex	IDA	28086084
GO:0098855	Component	HCN channel complex	IEA
GO:0098855	Component	HCN channel complex	ISO
GO:0098907	Process	Regulation of SA node cell action potential	NAS	16043489
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0140232	Function	Intracellular cAMP-activated cation channel activity involved in regulation of presynaptic membrane potential	IEA
GO:1902065	Process	Response to L-glutamate	IEA
GO:1902630	Process	Regulation of membrane hyperpolarization	IEA
GO:1902632	Process	Positive regulation of membrane hyperpolarization	IEA
GO:1990573	Process	Potassium ion import across plasma membrane	NAS	16043489

MIM	HGNC	e!Ensembl
602780	4845	ENSG00000164588

Protein

UniProt ID

O60741

Protein name

Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 (Brain cyclic nucleotide-gated channel 1) (BCNG-1)

Protein function

Hyperpolarization-activated ion channel that are permeable to sodium and potassium ions (PubMed:15351778, PubMed:28086084). Displays lower selectivity for K(+) over Na(+) ions (PubMed:28086084). Contributes to the native pacemaker currents in he

PDB

5U6O , 5U6P , 6UQF , 6UQG , 8T4M , 8T4Y , 8T50 , 8UC7 , 8UC8 , 9BC6 , 9BC7

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08412	Ion_trans_N	98 → 141	Ion transport protein N-terminal	Family
PF00520	Ion_trans	142 → 405	Ion transport protein	Family
PF00027	cNMP_binding	493 → 576	Cyclic nucleotide-binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in brain, in particular in amygdala and hippocampus, while expression in caudate nucleus, corpus callosum, substantia nigra, subthalamic nucleus and thalamus is very low or not detectable. Detected at very low levels in muscle

Sequence

MEGGGKPNSSSNSRDDGNSVFPAKASATGAGPAAAEKRLGTPPGGGGAGAKEHGNSVCFK
VDGGGGGGGGGGGGEEPAGGFEDAEGPRRQYGFMQRQFTSMLQPGVNKFSLRMFGSQKAV
EKEQERVKTAGFWIIHPYSDFRFYWDLIMLIMMVGNLVIIPVGITFFTEQTTTPWIIFNV
ASDTVFLLDLIMNFRTGTVNEDSSEIILDPKVIKMNYLKSWFVVDFISSIPVDYIFLIVE
KGMDSEVYKTARALRIVRFTKILSLLRLLRLSRLIRYIHQWEEIFHMTYDLASAVVRIFN
LIGMMLLLCHWDGCLQFLVPLLQDFPPDCWVSLNEMVNDSWGKQYSYALFKAMSHMLCIG
YGAQAPVSMSDLWITMLSMIVGATCYAMFVGHATALIQSLDSSRRQYQEKYKQVEQYMSF
HKLPADMRQKIHDYYEHRYQGKIFDEENILNELNDPLREEIVNFNCRKLVATMPLFANAD
PNFVTAMLSKLRFEVFQPGDYIIREGAVGKKMYFIQHGVAGVITKSSKEMKLTDGSYFGE
ICLLTKGRRTASVRADTYCRLYSLSVDNFNEVLEEYPMMRRAFETVAIDRLDRIGKKNSI
LLQKFQKDLNTGVFNNQENEILKQIVKHDREMVQAIAPINYPQMTTLNSTSSTTTPTSRM
RTQSPPVYTATSLSHSNLHSPSPSTQTPQPSAILSPCSYTTAVCSPPVQSPLAARTFHYA
SPTASQLSLMQQQPQQQVQQSQPPQTQPQQPSPQPQTPGSSTPKNEVHKSTQALHNTNLT
REVRPLSASQPSLPHEVSTLISRPHPTVGESLASIPQPVTAVPGTGLQAGGRSTVPQRVT
LFRQMSSGAIPPNRGVPPAPPPPAAALPRESSSVLNTDPDAEKPRFASNL

Sequence length

890

Interactions

View interactions

	KEGG		Reactome
	GnRH secretion		HCN channels

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Developmental And Epileptic Encephalopathy	Developmental and epileptic encephalopathy, 24	rs1554040120, rs587777493, rs587777494, rs587777495, rs1561139569, rs1057519547, rs1057519548, rs587777492, rs1057521989	N/A
Epileptic Encephalopathy	early infantile epileptic encephalopathy with suppression bursts	rs763339068, rs587777492, rs1554037381, rs1561139569, rs587777495	N/A
Epileptic encephalopathy	epileptic encephalopathy	rs1057519547, rs1057519548	N/A
Generalized Epilepsy with Febrile Seizures Plus	Generalized epilepsy with febrile seizures plus, type 10	rs587777492, rs1561230486, rs1561139569, rs1561081319, rs1318391259, rs1561120793, rs1561230606	N/A

Show/Hide Unknown Diseases (7)

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.
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS
Breast cancer	Breast cancer, Invasive breast cancer	N/A	N/A	GWAS
Breast Cancer	Cancer code, self-reported: breast cancer (UKB data field 20001_1002), Postmenopausal breast cancer	N/A	N/A	GWAS
Diabetes	Type 2 diabetes, Type 2 diabetes (PheCode 250.2), Type 2 diabetes or schizophrenia (pleiotropy)	N/A	N/A	GWAS
Mental retardation	intellectual disability	N/A	N/A	ClinVar
Neuroticism	Neuroticism	N/A	N/A	GWAS
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Breast Neoplasms	Associate	19232126, 20605201, 22045194, 27863437, 28178648
Colorectal Neoplasms	Associate	35202405
Disease	Associate	37239316
Encephalitis	Associate	7700510
Epilepsies Myoclonic	Associate	30776697
Hemimegalencephaly	Associate	7700510
Pain	Associate	35806193
Peripheral Nervous System Diseases	Associate	35806193
Prostatic Neoplasms	Associate	37239316
Schizophrenia	Associate	31596458
Sudden Unexpected Death in Epilepsy	Associate	21615589
Tuberculosis Meningeal	Associate	29460132

HCN1 (hyperpolarization activated cyclic nucleotide gated potassium channel 1)