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HCN2

Chr 19p13.3

hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2

Aliases:
BCNG-2, HAC-1
MANE:
ENST00000251287.3

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Early onset or syndromic epilepsy

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Childhood onset dystonia, chorea or related movement disorder

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Intellectual disability

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • febrile seizures, familial, 2

    0.64
  • neurodegenerative disease

    0.50
  • complex neurodevelopmental disorder

    0.46
  • neurodevelopmental disorder

    0.44
  • Alzheimer disease

    0.34
  • Parkinson disease

    0.34
  • multiple sclerosis

    0.32
  • lysosomal storage disease

    0.32
  • Neurodevelopmental delay

    0.27
  • smoking initiation

    0.26

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 2

Hyperpolarization-activated ion channel that is permeable to sodium and potassium ions. Displays lower selectivity for K(+) over Na(+) ions (PubMed:10228147, PubMed:22006928). Contributes to the native pacemaker currents in heart (If) and in neurons (Ih) (PubMed:10228147, PubMed:10524219). Can also transport ammonium in the distal nephron (By similarity). Involved in the initiation of neuropathic pain in sensory neurons (By similarity)

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.