Identity
HGNC
LOCATION
11p15.5
LOCUSID
ALIAS
ATFB1,ATFB3,JLNS1,KCNA8,KCNA9,KVLQT1,Kv1.9,Kv7.1,LQT,LQT1,RWS,SQT2,WRS
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: 3784
MIM: 607542
HGNC: 6294
Ensembl: ENSG00000053918
Variants:
dbSNP: 3784
ClinVar: 3784
TCGA: ENSG00000053918
COSMIC: KCNQ1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA159018367 | Brugada syndrome | Disease | DataAnnotation | associated | |||
| PA165817016 | Kidney Transplantation | Disease | ClinicalAnnotation | associated | PD | 21355884 | |
| PA212 | KCNH2 | Gene | DataAnnotation | associated | |||
| PA304 | SCN5A | Gene | DataAnnotation | associated | |||
| PA443890 | Diabetes Mellitus, Type 2 | Disease | ClinicalAnnotation | associated | PD | 22414228 | |
| PA447184 | Romano-Ward Syndrome | Disease | DataAnnotation | associated | |||
| PA448871 | celecoxib | Chemical | Pathway | associated | 22336956 | ||
| PA451234 | repaglinide | Chemical | ClinicalAnnotation | associated | PD | 22414228 | |
| PA451578 | tacrolimus | Chemical | ClinicalAnnotation | associated | PD | 21355884 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38256028 | 2024 | KCNQ1 p.D446E Variant as a Risk Allele for Arrhythmogenic Phenotypes: Electrophysiological Characterization Reveals a Complex Phenotype Affecting the Slow Delayed Rectifier Potassium Current (IKs) Voltage Dependence by Causing a Hyperpolarizing Shift and a Lack of Response to Protein Kinase A Activation. | 0 |
| 38367891 | 2024 | Clinical characterization of type 1 long QT syndrome caused by C-terminus Kv7.1 variants. | 0 |
| 38657442 | 2024 | A mutation in the cardiac KV7.1 channel possibly disrupts interaction with Yotiao protein. | 0 |
| 38825991 | 2024 | Genetic characterization of KCNQ1 variants improves risk stratification in type 1 long QT syndrome patients. | 0 |
| 38256028 | 2024 | KCNQ1 p.D446E Variant as a Risk Allele for Arrhythmogenic Phenotypes: Electrophysiological Characterization Reveals a Complex Phenotype Affecting the Slow Delayed Rectifier Potassium Current (IKs) Voltage Dependence by Causing a Hyperpolarizing Shift and a Lack of Response to Protein Kinase A Activation. | 0 |
| 38367891 | 2024 | Clinical characterization of type 1 long QT syndrome caused by C-terminus Kv7.1 variants. | 0 |
| 38657442 | 2024 | A mutation in the cardiac KV7.1 channel possibly disrupts interaction with Yotiao protein. | 0 |
| 38825991 | 2024 | Genetic characterization of KCNQ1 variants improves risk stratification in type 1 long QT syndrome patients. | 0 |
| 36674868 | 2023 | Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome KCNQ1 Variants. | 1 |
| 36721196 | 2023 | Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population. | 2 |
| 36921852 | 2023 | KCNQ1 rs2237892 polymorphism modify the association between short-term ambient particulate matter exposure and fasting blood glucose: A family-based study. | 2 |
| 37031592 | 2023 | The role of native cysteine residues in the oligomerization of KCNQ1 channels. | 0 |
| 37250717 | 2023 | Identifying C1QB, ITGAM, and ITGB2 as potential diagnostic candidate genes for diabetic nephropathy using bioinformatics analysis. | 3 |
| 37568094 | 2023 | Novel combinations of variations in KCNQ1 were associated with patients with long QT syndrome or Jervell and Lange-Nielsen syndrome. | 0 |
| 36674868 | 2023 | Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome KCNQ1 Variants. | 1 |
Citation
Dessen P
KCNQ1 (potassium voltage-gated channel subfamily Q member 1)
Atlas Genet Cytogenet Oncol Haematol. 2003-10-01
Online version: http://atlasgeneticsoncology.org/gene/41051/kcnq1-(potassium-voltage-gated-channel-subfamily-q-member-1)
