|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
BCNG4
FLJ10785
PASD
hHCN4
|
|
gptkbp:alternativeName
|
BCNG4
FLJ10785
PASD
hHCN4
hyperpolarization-activated cyclic nucleotide-gated channel 4
|
|
gptkbp:associatedWith
|
gptkb:sick_sinus_syndrome
bradycardia
sinoatrial node function
|
|
gptkbp:component
|
gptkb:plasma_membrane
|
|
gptkbp:discoveredBy
|
Ludwig et al.
|
|
gptkbp:discoveredIn
|
1999
|
|
gptkbp:encodes
|
HCN4 protein
|
|
gptkbp:Entrez_Gene_ID
|
10071
ENSG00000138622
|
|
gptkbp:expressedIn
|
brain
heart
high in sinoatrial node
low in ventricle
present in hippocampus
present in thalamus
|
|
gptkbp:fullName
|
hyperpolarization activated cyclic nucleotide gated potassium channel 4
|
|
gptkbp:function
|
codes for a pacemaker channel in the heart
cyclic nucleotide-gated ion channel activity
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:GOProcess
|
regulation of heart rate
|
|
gptkbp:HGNC_ID
|
HGNC:4847
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
HCN4
|
|
gptkbp:length
|
1203 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:15q24.1
|
|
gptkbp:molecularWeight
|
135 kDa
|
|
gptkbp:mutationAssociatedWith
|
gptkb:arrhythmia
gptkb:sick_sinus_syndrome
familial sinus bradycardia
|
|
gptkbp:OMIM
|
605206
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Hcn4
|
|
gptkbp:PDB
|
6GYN
|
|
gptkbp:proteinFamily
|
HCN channel family
|
|
gptkbp:RefSeq
|
NM_005477
|
|
gptkbp:regulates
|
gptkb:cAMP
hyperpolarization
|
|
gptkbp:relatedTo
|
HCN1
HCN2
HCN3
|
|
gptkbp:significance
|
mutations cause inherited cardiac arrhythmias
|
|
gptkbp:transmembraneDomains
|
6
|
|
gptkbp:UniProtID
|
Q9Y3Q4
|
|
gptkbp:bfsParent
|
gptkb:Familial_atrial_fibrillation
|
|
gptkbp:bfsLayer
|
7
|