HCN1 (hyperpolarization activated cyclic nucleotide gated potassium channel 1)

2003-05-01  

Identity

HGNC
LOCATION
5p12
LOCUSID
ALIAS
BCNG-1,BCNG1,DEE24,EIEE24,GEFSP10,HAC-2
FUSION GENES

Other Information

Locus ID:

NCBI: 348980
MIM: 602780
HGNC: 4845
Ensembl: ENSG00000164588

Variants:

dbSNP: 348980
ClinVar: 348980
TCGA: ENSG00000164588
COSMIC: HCN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164588ENST00000303230O60741
ENSG00000164588ENST00000634658A0A0U1RQR7

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
10

Pathways

PathwaySourceExternal ID
Neuronal SystemREACTOMER-HSA-112316
Potassium ChannelsREACTOMER-HSA-1296071
HCN channelsREACTOMER-HSA-1296061

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166131379o-desmethyltramadolChemicalClinicalAnnotationassociatedPK30971809
PA451735tramadolChemicalClinicalAnnotationassociatedPK30971809

References

Pubmed IDYearTitleCitations
128907772003Enhanced expression of a specific hyperpolarization-activated cyclic nucleotide-gated cation channel (HCN) in surviving dentate gyrus granule cells of human and experimental epileptic hippocampus.73
215049002011Trafficking and gating of hyperpolarization-activated cyclic nucleotide-gated channels are regulated by interaction with tetratricopeptide repeat-containing Rab8b-interacting protein (TRIP8b) and cyclic AMP at distinct sites.37
179318742008Mutation analysis of the hyperpolarization-activated cyclic nucleotide-gated channels HCN1 and HCN2 in idiopathic generalized epilepsy.21
179318742008Mutation analysis of the hyperpolarization-activated cyclic nucleotide-gated channels HCN1 and HCN2 in idiopathic generalized epilepsy.21
201451382010Common genetic variants associated with breast cancer and mammographic density measures that predict disease.21
230770682012TRIP8b-independent trafficking and plasticity of adult cortical presynaptic HCN1 channels.18
216155892011Genetic analysis of hyperpolarization-activated cyclic nucleotide-gated cation channels in sudden unexpected death in epilepsy cases.12
244030842014Filamin A promotes dynamin-dependent internalization of hyperpolarization-activated cyclic nucleotide-gated type 1 (HCN1) channels and restricts Ih in hippocampal neurons.10
281786482017Polymorphisms of ESR1, UGT1A1, HCN1, MAP3K1 and CYP2B6 are associated with the prognosis of hormone receptor-positive early breast cancer.10
192321262009Association between breast cancer susceptibility loci and mammographic density: the Multiethnic Cohort.9

Citation

Dessen P

HCN1 (hyperpolarization activated cyclic nucleotide gated potassium channel 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40799/hcn1