Identity
HGNC
LOCATION
1p13.3
LOCUSID
ALIAS
DEE32,EIEE32,HBK5,HK4,HUKIV,KV1.2,MK2,NGK1,RBK2
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: 3737
MIM: 176262
HGNC: 6220
Ensembl: ENSG00000177301
Variants:
dbSNP: 3737
ClinVar: 3737
TCGA: ENSG00000177301
COSMIC: KCNA2
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Neuronal System | REACTOME | R-HSA-112316 |
| Potassium Channels | REACTOME | R-HSA-1296071 |
| Voltage gated Potassium channels | REACTOME | R-HSA-1296072 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38309639 | 2024 | KCNA2 IgG autoimmunity in neuropsychiatric diseases. | 1 |
| 38309639 | 2024 | KCNA2 IgG autoimmunity in neuropsychiatric diseases. | 1 |
| 37883018 | 2023 | Two epilepsy-associated variants in KCNA2 (K(V) 1.2) at position H310 oppositely affect channel functional expression. | 0 |
| 37883018 | 2023 | Two epilepsy-associated variants in KCNA2 (K(V) 1.2) at position H310 oppositely affect channel functional expression. | 0 |
| 35439054 | 2022 | An epilepsy-associated K(V)1.2 charge-transfer-center mutation impairs K(V)1.2 and K(V)1.4 trafficking. | 2 |
| 35439054 | 2022 | An epilepsy-associated K(V)1.2 charge-transfer-center mutation impairs K(V)1.2 and K(V)1.4 trafficking. | 2 |
| 33500571 | 2021 | Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes. | 6 |
| 33802230 | 2021 | Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders. | 16 |
| 33500571 | 2021 | Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes. | 6 |
| 33802230 | 2021 | Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders. | 16 |
| 32186932 | 2020 | Notch enhances Ca(2+) entry by activating calcium-sensing receptors and inhibiting voltage-gated K(+) channels. | 13 |
| 32186932 | 2020 | Notch enhances Ca(2+) entry by activating calcium-sensing receptors and inhibiting voltage-gated K(+) channels. | 13 |
| 30055040 | 2018 | De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants. | 21 |
| 30055040 | 2018 | De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants. | 21 |
| 27062609 | 2017 | Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease. | 20 |
Citation
Dessen P
KCNA2 (potassium voltage-gated channel subfamily A member 2)
Atlas Genet Cytogenet Oncol Haematol. 2008-07-01
Online version: http://atlasgeneticsoncology.org/gene/50252/kcna2
