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
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
18786918	2008	Homomeric and heteromeric assembly of KCNQ (Kv7) K+ channels assayed by total internal reflection fluorescence/fluorescence resonance energy transfer and patch clamp analysis.	29
24297175	2014	Differential protein kinase C-dependent modulation of Kv7.4 and Kv7.5 subunits of vascular Kv7 channels.	29
15304482	2004	Dual phosphorylations underlie modulation of unitary KCNQ K(+) channels by Src tyrosine kinase.	19
29748663	2018	Direct neurotransmitter activation of voltage-gated potassium channels.	16
28669405	2017	Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.	15
19910673	2009	Functional implications of KCNE subunit expression for the Kv7.5 (KCNQ5) channel.	14
25672891	2015	A genome-wide association study of periodontitis in a Japanese population.	14
21730298	2011	Novel expression and regulation of voltage-dependent potassium channels in placentas from women with preeclampsia.	13

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-(potassium-voltage-gated-channel-subfamily-q-member-5)