HCN2 (hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2)

2017-04-01  

Identity

HGNC
LOCATION
19p13.3
LOCUSID
ALIAS
BCNG-2,BCNG2,HAC-1
FUSION GENES

Other Information

Locus ID:

NCBI: 610
MIM: 602781
HGNC: 4846
Ensembl: ENSG00000099822

Variants:

dbSNP: 610
ClinVar: 610
TCGA: ENSG00000099822
COSMIC: HCN2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000099822ENST00000251287Q9UL51

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
cAMP signaling pathwayKEGGhsa04024
cAMP signaling pathwayKEGGko04024
Neuronal SystemREACTOMER-HSA-112316
Potassium ChannelsREACTOMER-HSA-1296071
HCN channelsREACTOMER-HSA-1296061

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
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
251970932014Structural basis for the mutual antagonism of cAMP and TRIP8b in regulating HCN channel function.38
221313952011Recessive loss-of-function mutation in the pacemaker HCN2 channel causing increased neuronal excitability in a patient with idiopathic generalized epilepsy.35
159614042005Identification of the cyclic-nucleotide-binding domain as a conserved determinant of ion-channel cell-surface localization.34
167779442006Mode shifts in the voltage gating of the mouse and human HCN2 and HCN4 channels.33
204375902010Augmented currents of an HCN2 variant in patients with febrile seizure syndromes.33
170431492006Cooperative gating between single HCN pacemaker channels.26
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

Citation

Dessen P

HCN2 (hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2)

Atlas Genet Cytogenet Oncol Haematol. 2017-04-01

Online version: http://atlasgeneticsoncology.org/gene/56751/hcn2