Identity
HGNC
LOCATION
8q24.22
LOCUSID
ALIAS
BFNC2,EBN2,KV7.3
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: 3786
MIM: 602232
HGNC: 6297
Ensembl: ENSG00000184156
Variants:
dbSNP: 3786
ClinVar: 3786
TCGA: ENSG00000184156
COSMIC: KCNQ3
RNA/Proteins
Expression (GTEx)
Pathways
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA448871 | celecoxib | Chemical | Pathway | associated | 22336956 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37648039 | 2024 | SMAD4 and KCNQ3 alterations are associated with lymph node metastases in oesophageal adenocarcinoma. | 0 |
| 38049972 | 2024 | Impacted spike frequency adaptation associated with reduction of KCNQ2/3 exacerbates seizure activity in temporal lobe epilepsy. | 0 |
| 37648039 | 2024 | SMAD4 and KCNQ3 alterations are associated with lymph node metastases in oesophageal adenocarcinoma. | 0 |
| 38049972 | 2024 | Impacted spike frequency adaptation associated with reduction of KCNQ2/3 exacerbates seizure activity in temporal lobe epilepsy. | 0 |
| 35384780 | 2022 | Phenotypic Spectrum in a Family Sharing a Heterozygous KCNQ3 Variant. | 0 |
| 35384780 | 2022 | Phenotypic Spectrum in a Family Sharing a Heterozygous KCNQ3 Variant. | 0 |
| 33037390 | 2021 | The identification of two pathogenic variants in a family with mild and severe forms of developmental delay. | 1 |
| 33037390 | 2021 | The identification of two pathogenic variants in a family with mild and severe forms of developmental delay. | 1 |
| 32580997 | 2020 | Heteromeric Assembly of Truncated Neuronal Kv7 Channels: Implications for Neurologic Disease and Pharmacotherapy. | 4 |
| 32580997 | 2020 | Heteromeric Assembly of Truncated Neuronal Kv7 Channels: Implications for Neurologic Disease and Pharmacotherapy. | 4 |
| 30578330 | 2019 | Epilepsy-associated mutations in the voltage sensor of KCNQ3 affect voltage dependence of channel opening. | 4 |
| 30885609 | 2019 | Identification of potassium channel proteins Kv7.2/7.3 as common partners of the dopamine and glutamate transporters DAT and GLT-1. | 7 |
| 31177578 | 2019 | Autism and developmental disability caused by KCNQ3 gain-of-function variants. | 47 |
| 30578330 | 2019 | Epilepsy-associated mutations in the voltage sensor of KCNQ3 affect voltage dependence of channel opening. | 4 |
| 30885609 | 2019 | Identification of potassium channel proteins Kv7.2/7.3 as common partners of the dopamine and glutamate transporters DAT and GLT-1. | 7 |
Citation
Dessen P
KCNQ3 (potassium voltage-gated channel subfamily Q member 3)
Atlas Genet Cytogenet Oncol Haematol. 2003-05-01
Online version: http://atlasgeneticsoncology.org/gene/41052/kcnq3
