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HCN4

Chr 15q24.1

hyperpolarization activated cyclic nucleotide gated potassium channel 4

MANE:
ENST00000261917.4

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Progressive cardiac conduction disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Paediatric or syndromic cardiomyopathy

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Brugada syndrome and cardiac sodium channel disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Short QT syndrome

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • sick sinus syndrome 2, autosomal dominant

    0.73
  • atrial fibrillation

    0.70
  • heart failure

    0.60
  • Brugada syndrome 8

    0.59
  • angina pectoris

    0.58
  • cardiac arrhythmia

    0.55
  • Abnormality of the cardiovascular system

    0.51
  • atrial flutter

    0.50
  • familial sick sinus syndrome

    0.47
  • Left ventricular noncompaction cardiomyopathy

    0.44

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

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

Hyperpolarization-activated ion channel that are permeable to Na(+) and K(+) ions with very slow activation and inactivation (PubMed:10228147, PubMed:10430953, PubMed:20829353). Exhibits higher selectivity for K(+) over Na(+) ions (PubMed:10228147). Contributes to the native pacemaker currents in heart (If) that regulate the rhythm of heart beat (Probable) (PubMed:10228147, PubMed:16407510, PubMed:19165230). Contributes to the native pacemaker currents in neurons (Ih) (Probable). May mediate responses to sour stimuli (By similarity)

Curated MONDO disease pages that list HCN4 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.