KCNQ3 (potassium voltage-gated channel subfamily Q member 3)

2003-05-01  

Identity

HGNC
KCNQ3
LOCATION
8q24.22
LOCUSID
3786
ALIAS
BFNC2,EBN2,KV7.3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3786
MIM: 602232
HGNC: 6297
Ensembl: ENSG00000184156

Variants:

dbSNP: 3786
ClinVar: 3786
TCGA: ENSG00000184156
COSMIC: KCNQ3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000184156ENST00000388996O43525
ENSG00000184156ENST00000519445E7ET42
ENSG00000184156ENST00000521134O43525
ENSG00000184156ENST00000621976A0A087WZB4
ENSG00000184156ENST00000638588A0A1W2PQ71
ENSG00000184156ENST00000639358A0A1W2PRN8
ENSG00000184156ENST00000639496A0A1W2PNZ2

Expression (GTEx)

0
5
10
15
20
25
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

PathwaySourceExternal ID
Cholinergic synapseKEGGhsa04725
Neuronal SystemREACTOMER-HSA-112316
Potassium ChannelsREACTOMER-HSA-1296071
Voltage gated Potassium channelsREACTOMER-HSA-1296072
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
L1CAM interactionsREACTOMER-HSA-373760
Interaction between L1 and AnkyrinsREACTOMER-HSA-445095

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA448871celecoxibChemicalPathwayassociated22336956

References

Pubmed IDYearTitleCitations
169905152006Rapid chemically induced changes of PtdIns(4,5)P2 gate KCNQ ion channels.237
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
167354772006Polarized axonal surface expression of neuronal KCNQ channels is mediated by multiple signals in the KCNQ2 and KCNQ3 C-terminal domains.84
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
128325242003Stoichiometry of expressed KCNQ2/KCNQ3 potassium channels and subunit composition of native ganglionic M channels deduced from block by tetraethylammonium.57
125245252003A carboxy-terminal domain determines the subunit specificity of KCNQ K+ channel assembly.55
180898372008N-(6-chloro-pyridin-3-yl)-3,4-difluoro-benzamide (ICA-27243): a novel, selective KCNQ2/Q3 potassium channel activator.48
257405092015Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.39
154831332004Three mechanisms underlie KCNQ2/3 heteromeric potassium M-channel potentiation.35
187908492008Determinants within the turret and pore-loop domains of KCNQ3 K+ channels governing functional activity.31

Citation

Dessen P

KCNQ3 (potassium voltage-gated channel subfamily Q member 3)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/41052/kcnq3