KCNQ5 (potassium voltage-gated channel subfamily Q member 5)

2012-11-01 Affiliation

Identity

HGNC

KCNQ5

LOCATION

6q13

LOCUSID

56479

ALIAS

Kv7.5,MRD46

FUSION GENES

Show Gene Fusions

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

Gene ID	Transcript ID	Uniprot
ENSG00000185760	ENST00000342056	Q9NR82
ENSG00000185760	ENST00000355194	F8WEA4
ENSG00000185760	ENST00000355635	A0A0A0MRC8
ENSG00000185760	ENST00000370392	Q9NR82
ENSG00000185760	ENST00000370398	Q9NR82
ENSG00000185760	ENST00000402622	A0A0A0MSD9
ENSG00000185760	ENST00000403813	A0A0A0MSC0
ENSG00000185760	ENST00000414165	A0A0A0MT07
ENSG00000185760	ENST00000427928	H0Y3Z0
ENSG00000185760	ENST00000441538	A6PVT8
ENSG00000185760	ENST00000443915	A6PVT7
ENSG00000185760	ENST00000628967	Q9NR82
ENSG00000185760	ENST00000629977	Q9NR82

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

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)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	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/meetings/teaching-explorer/