Skip to content
GenoLensGenoLens

KCND3

Chr 1p13.2

potassium voltage-gated channel subfamily D member 3

Aliases:
Kv4.3, KSHIVB
MANE:
ENST00000302127.5
OMIM: 605411 ↗NCBI: 3752 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Adult onset neurodegenerative disorder

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Ataxia and cerebellar anomalies - narrow panel

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Early onset or syndromic epilepsy

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Hereditary ataxia

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Hereditary ataxia with onset in adulthood

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Childhood onset dystonia, chorea or related movement disorder

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

+3 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

  • spinocerebellar ataxia type 19/22

    0.81

  • atrial fibrillation

    0.63

  • myasthenia gravis

    0.63

  • multiple sclerosis

    0.59

  • Lambert-Eaton myasthenic syndrome

    0.56

  • Brugada syndrome 9

    0.56

  • cardiac arrhythmia

    0.55

  • neurodegenerative disease

    0.53

  • Congenital myasthenic syndromes

    0.50

  • congenital myasthenic syndrome

    0.49

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

Protein function (UniProt)

A-type voltage-gated potassium channel KCND3

Pore-forming (alpha) subunit of voltage-gated A-type potassium channels that mediates transmembrane potassium transport in excitable membranes, in brain and heart (PubMed:10200233, PubMed:17187064, PubMed:21349352, PubMed:22457051, PubMed:23280837, PubMed:23280838, PubMed:34997220, PubMed:9843794). In cardiomyocytes, may generate the transient outward potassium current I(To) (By similarity). In neurons, may conduct the transient subthreshold somatodendritic A-type potassium current (ISA) (By similarity). Kinetics properties are characterized by fast activation at subthreshold membrane potentials, rapid inactivation, and quick recovery from inactivation (PubMed:10200233, PubMed:17187064, PubMed:21349352, PubMed:22457051, PubMed:23280837, PubMed:23280838, PubMed:34997220, PubMed:9843794). Channel properties are modulated by interactions with regulatory subunits (PubMed:17187064, PubMed:34997220). Interaction with the regulatory subunits KCNIP1 or KCNIP2 modulates the channel gating kinetics namely channel activation and inactivation kinetics and rate of recovery from inactivation (PubMed:17187064, PubMed:34997220). Likewise, interaction with DPP6 modulates the channel gating kinetics namely channel activation and inactivation kinetics (PubMed:34997220)

Diseases associated with KCND3

Curated MONDO disease pages that list KCND3 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.