Identity
HGNC
LOCATION
1p34.2
LOCUSID
ALIAS
DFNA2,DFNA2A,KV7.4
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: 9132
MIM: 603537
HGNC: 6298
Ensembl: ENSG00000117013
Variants:
dbSNP: 9132
ClinVar: 9132
TCGA: ENSG00000117013
COSMIC: KCNQ4
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000117013 | ENST00000347132 | P56696 |
| ENSG00000117013 | ENST00000443478 | H0Y6N7 |
| ENSG00000117013 | ENST00000509682 | P56696 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Cholinergic synapse | KEGG | hsa04725 |
| Neuronal System | REACTOME | R-HSA-112316 |
| Potassium Channels | REACTOME | R-HSA-1296071 |
| Voltage gated Potassium channels | REACTOME | R-HSA-1296072 |
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 |
|---|---|---|---|
| 37962101 | 2024 | Natural History of KCNQ4 p.G285S Related Hearing Loss, Construction of iPSC and Mouse Model. | 0 |
| 37962101 | 2024 | Natural History of KCNQ4 p.G285S Related Hearing Loss, Construction of iPSC and Mouse Model. | 0 |
| 36597364 | 2023 | [The genotype-phenotype correlation analysis and genetic counseling of hearing loss patients with novel KCNQ4 mutations]. | 1 |
| 37009795 | 2023 | Overlooked KCNQ4 variants augment the risk of hearing loss. | 2 |
| 37903775 | 2023 | Comprehensive pan‑cancer analysis of potassium voltage-gated channel Q4 (KCNQ4) gene across multiple human malignant tumors. | 0 |
| 36597364 | 2023 | [The genotype-phenotype correlation analysis and genetic counseling of hearing loss patients with novel KCNQ4 mutations]. | 1 |
| 37009795 | 2023 | Overlooked KCNQ4 variants augment the risk of hearing loss. | 2 |
| 37903775 | 2023 | Comprehensive pan‑cancer analysis of potassium voltage-gated channel Q4 (KCNQ4) gene across multiple human malignant tumors. | 0 |
| 35599357 | 2022 | A humanized murine model, demonstrating dominant progressive hearing loss caused by a novel KCNQ4 mutation (p.G228D) from a large Chinese family. | 3 |
| 35599357 | 2022 | A humanized murine model, demonstrating dominant progressive hearing loss caused by a novel KCNQ4 mutation (p.G228D) from a large Chinese family. | 3 |
| 33238160 | 2021 | Structural Basis for the Modulation of Human KCNQ4 by Small-Molecule Drugs. | 35 |
| 33846771 | 2021 | A novel KCNQ4 gene variant (c.857A>G; p.Tyr286Cys) in an extended family with non‑syndromic deafness 2A. | 6 |
| 34316018 | 2021 | Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss. | 12 |
| 34622280 | 2021 | Cell death-inducing cytotoxicity in truncated KCNQ4 variants associated with DFNA2 hearing loss. | 2 |
| 34828318 | 2021 | A KCNQ4 c.546C>G Genetic Variant Associated with Late Onset Non-Syndromic Hearing Loss in a Taiwanese Population. | 4 |
Citation
Dessen P
KCNQ4 (potassium voltage-gated channel subfamily Q member 4)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64807
