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: 56479
MIM: 607357
HGNC: 6299
Ensembl: ENSG00000185760
Variants:
dbSNP: 56479
ClinVar: 56479
TCGA: ENSG00000185760
COSMIC: KCNQ5
RNA/Proteins
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 |
|---|---|---|---|---|---|---|---|
| PA445062 | Neoplasms | Disease | ClinicalAnnotation | associated | PD | 25127363 | |
| PA448871 | celecoxib | Chemical | Pathway | associated | 22336956 | ||
| PA450085 | irinotecan | Chemical | ClinicalAnnotation, Literature, MultilinkAnnotation | associated | PD | 25127363 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35377796 | 2022 | Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy. | 7 |
| 35583973 | 2022 | Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability. | 6 |
| 36088682 | 2022 | Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies. | 2 |
| 35377796 | 2022 | Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy. | 7 |
| 35583973 | 2022 | Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability. | 6 |
| 36088682 | 2022 | Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies. | 2 |
| 31871302 | 2020 | Structural Determinants of Kv7.5 Potassium Channels That Confer Changes in Phosphatidylinositol 4,5-Bisphosphate (PIP(2)) Affinity and Signaling Sensitivities in Smooth Muscle Cells. | 3 |
| 32825637 | 2020 | Remodeling of Kv7.1 and Kv7.5 Expression in Vascular Tumors. | 4 |
| 31871302 | 2020 | Structural Determinants of Kv7.5 Potassium Channels That Confer Changes in Phosphatidylinositol 4,5-Bisphosphate (PIP(2)) Affinity and Signaling Sensitivities in Smooth Muscle Cells. | 3 |
| 32825637 | 2020 | Remodeling of Kv7.1 and Kv7.5 Expression in Vascular Tumors. | 4 |
| 29325454 | 2018 | Down-expression of P2RX2, KCNQ5, ERBB3 and SOCS3 through DNA hypermethylation in elderly women with presbycusis. | 18 |
| 29748663 | 2018 | Direct neurotransmitter activation of voltage-gated potassium channels. | 41 |
| 30061510 | 2018 | Mechanisms of PKA-Dependent Potentiation of Kv7.5 Channel Activity in Human Airway Smooth Muscle Cells. | 10 |
| 29325454 | 2018 | Down-expression of P2RX2, KCNQ5, ERBB3 and SOCS3 through DNA hypermethylation in elderly women with presbycusis. | 18 |
| 29748663 | 2018 | Direct neurotransmitter activation of voltage-gated potassium channels. | 41 |
Citation
Dessen P
KCNQ5 (potassium voltage-gated channel subfamily Q member 5)
Atlas Genet Cytogenet Oncol Haematol. 2012-11-01
Online version: http://atlasgeneticsoncology.org/gene/53014/kcnq5
