KCNQ4 (potassium voltage-gated channel subfamily Q member 4)

2014-11-01  

Identity

HGNC
KCNQ4
LOCATION
1p34.2
LOCUSID
9132
ALIAS
DFNA2,DFNA2A,KV7.4
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9132
MIM: 603537
HGNC: 6298
Ensembl: ENSG00000117013

Variants:

dbSNP: 9132
ClinVar: 9132
TCGA: ENSG00000117013
COSMIC: KCNQ4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000117013ENST00000347132P56696
ENSG00000117013ENST00000443478H0Y6N7
ENSG00000117013ENST00000509682P56696

Expression (GTEx)

0
5
10
15
20
25
30
35
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA448871celecoxibChemicalPathwayassociated22336956

References

Pubmed IDYearTitleCitations
173292072007Structural insight into KCNQ (Kv7) channel assembly and channelopathy.79
125245252003A carboxy-terminal domain determines the subunit specificity of KCNQ K+ channel assembly.55
221016412011KCNQ4 K(+) channels tune mechanoreceptors for normal touch sensation in mouse and man.38
168237642006The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss.33
168237642006The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss.33
169179332006KCNQ4: a gene for age-related hearing impairment?32
169179332006KCNQ4: a gene for age-related hearing impairment?32
187869182008Homomeric and heteromeric assembly of KCNQ (Kv7) K+ channels assayed by total internal reflection fluorescence/fluorescence resonance energy transfer and patch clamp analysis.29
242971752014Differential protein kinase C-dependent modulation of Kv7.4 and Kv7.5 subunits of vascular Kv7 channels.29
156602592005Regulation of the voltage-gated potassium channel KCNQ4 in the auditory pathway.25

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/kcnq4