Identity
HGNC
LOCATION
1p13.2
LOCUSID
ALIAS
BRGDA9,KCND3L,KCND3S,KSHIVB,KV4.3,SCA19,SCA22
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 3752
MIM: 605411
HGNC: 6239
Ensembl: ENSG00000171385
Variants:
dbSNP: 3752
ClinVar: 3752
TCGA: ENSG00000171385
COSMIC: KCND3
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34067185 | 2021 | Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt K(V)4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties. | 6 |
| 34067185 | 2021 | Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt K(V)4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties. | 6 |
| 32709127 | 2020 | Inter-Regulation of K(v)4.3 and Voltage-Gated Sodium Channels Underlies Predisposition to Cardiac and Neuronal Channelopathies. | 9 |
| 32818936 | 2020 | A Novel Gain-of-Function KCND3 Variant Associated with Brugada Syndrome. | 3 |
| 32709127 | 2020 | Inter-Regulation of K(v)4.3 and Voltage-Gated Sodium Channels Underlies Predisposition to Cardiac and Neuronal Channelopathies. | 9 |
| 32818936 | 2020 | A Novel Gain-of-Function KCND3 Variant Associated with Brugada Syndrome. | 3 |
| 30776697 | 2019 | Gene mutational analysis in a cohort of Chinese children with unexplained epilepsy: Identification of a new KCND3 phenotype and novel genes causing Dravet syndrome. | 15 |
| 31293010 | 2019 | Novel SCA19/22-associated KCND3 mutations disrupt human K(V) 4.3 protein biosynthesis and channel gating. | 8 |
| 31600170 | 2019 | KCND3 potassium channel gene variant confers susceptibility to electrocardiographic early repolarization pattern. | 7 |
| 30776697 | 2019 | Gene mutational analysis in a cohort of Chinese children with unexplained epilepsy: Identification of a new KCND3 phenotype and novel genes causing Dravet syndrome. | 15 |
| 31293010 | 2019 | Novel SCA19/22-associated KCND3 mutations disrupt human K(V) 4.3 protein biosynthesis and channel gating. | 8 |
| 31600170 | 2019 | KCND3 potassium channel gene variant confers susceptibility to electrocardiographic early repolarization pattern. | 7 |
| 30160358 | 2018 | SCN1Bβ mutations that affect their association with Kv4.3 underlie early repolarization syndrome. | 4 |
| 30160358 | 2018 | SCN1Bβ mutations that affect their association with Kv4.3 underlie early repolarization syndrome. | 4 |
| 29259226 | 2017 | Kv4.3 Modulates the Distribution of hERG. | 4 |
Citation
Dessen P
KCND3 (potassium voltage-gated channel subfamily D member 3)
Atlas Genet Cytogenet Oncol Haematol. 2003-05-01
Online version: http://atlasgeneticsoncology.org/gene/41047/kcnd3-(potassium-voltage-gated-channel-subfamily-d-member-3)
