Hyperpolarization-Activated Cyclic Nucleotide-Gated Potassium Channel

Alternative Names

  • HCN4
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OMIM Number

605206

NCBI Gene ID

10021

Uniprot ID

Q9Y3Q4

Length

49,100 bases

No. of Exons

9

No. of isoforms

1

Protein Name

Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4

Molecular Mass

129042 Da

Amino Acid Count

1203

Genomic Location

chr15:73,319,859-73,368,958

Gene Map Locus
15q24.1

Description

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 mediate responses to sour stimuli. Mutations in this gene have been linked to sick sinus syndrome 2, also known as atrial fibrillation with bradyarrhythmia or familial sinus bradycardia. Two pseudogenes have been identified on chromosome 15. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_005477.3:c.1840G>ALebanonchr15:73325093Likely BenignLikely BenignNG_009063.1:g.49172G>A; NM_005477.3:c.1840G>A; NP_005468.1:p.Glu614Lys201319883191454
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