Identity
HGNC
LOCATION
20q13.33
LOCUSID
ALIAS
BFNC,DEE7,EBN,EBN1,ENB1,HNSPC,KCNA11,KV7.2
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: 3785
MIM: 602235
HGNC: 6296
Ensembl: ENSG00000075043
Variants:
dbSNP: 3785
ClinVar: 3785
TCGA: ENSG00000075043
COSMIC: KCNQ2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA448871 | celecoxib | Chemical | Pathway | associated | 22336956 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36934001 | 2024 | Biallelic variants of KCNQ2 in early infantile developmental and epileptic encephalopathy. | 0 |
| 38049972 | 2024 | Impacted spike frequency adaptation associated with reduction of KCNQ2/3 exacerbates seizure activity in temporal lobe epilepsy. | 0 |
| 38108335 | 2024 | Familial KCNQ2 mutation: a psychiatric perspective. | 0 |
| 38142737 | 2024 | Improved classification and pathogenicity assessment by comprehensive functional studies in a large data set of KCNQ2 variants. | 0 |
| 38236165 | 2024 | Effect of a sensing charge mutation on the deactivation of KV7.2 channels. | 0 |
| 38788659 | 2024 | KCNQ2 mutations cause unique neonatal behavior arrests without motor seizures: Functional characterization. | 0 |
| 38814296 | 2024 | Clinical and genetic analysis of 18 patients with KCNQ2 mutations from South China. | 0 |
| 36934001 | 2024 | Biallelic variants of KCNQ2 in early infantile developmental and epileptic encephalopathy. | 0 |
| 38049972 | 2024 | Impacted spike frequency adaptation associated with reduction of KCNQ2/3 exacerbates seizure activity in temporal lobe epilepsy. | 0 |
| 38108335 | 2024 | Familial KCNQ2 mutation: a psychiatric perspective. | 0 |
| 38142737 | 2024 | Improved classification and pathogenicity assessment by comprehensive functional studies in a large data set of KCNQ2 variants. | 0 |
| 38236165 | 2024 | Effect of a sensing charge mutation on the deactivation of KV7.2 channels. | 0 |
| 38788659 | 2024 | KCNQ2 mutations cause unique neonatal behavior arrests without motor seizures: Functional characterization. | 0 |
| 38814296 | 2024 | Clinical and genetic analysis of 18 patients with KCNQ2 mutations from South China. | 0 |
| 36849527 | 2023 | Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants. | 0 |
Citation
Dessen P
KCNQ2 (potassium voltage-gated channel subfamily Q member 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-09-01
Online version: http://atlasgeneticsoncology.org/gene/54856/kcnq2-(potassium-voltage-gated-channel-subfamily-q-member-2)
