KCNQ2 (potassium voltage-gated channel subfamily Q member 2)

2014-09-01  

Identity

HGNC
KCNQ2
LOCATION
20q13.33
LOCUSID
3785
ALIAS
BFNC,DEE7,EBN,EBN1,ENB1,HNSPC,KCNA11,KV7.2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3785
MIM: 602235
HGNC: 6296
Ensembl: ENSG00000075043

Variants:

dbSNP: 3785
ClinVar: 3785
TCGA: ENSG00000075043
COSMIC: KCNQ2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000075043ENST00000344425O43526
ENSG00000075043ENST00000344425Q53Y30
ENSG00000075043ENST00000344462O43526
ENSG00000075043ENST00000357249A0A0G2JH35
ENSG00000075043ENST00000359125O43526
ENSG00000075043ENST00000360480O43526
ENSG00000075043ENST00000370224Q4VXP6
ENSG00000075043ENST00000625514A0A0D9SEV1
ENSG00000075043ENST00000626684A0A0D9SGJ7
ENSG00000075043ENST00000626839O43526
ENSG00000075043ENST00000627221A0A0D9SGG3
ENSG00000075043ENST00000629241A0A0D9SG49
ENSG00000075043ENST00000629318A0A0D9SGD4
ENSG00000075043ENST00000629498A0A0D9SFE0
ENSG00000075043ENST00000629676A0A0D9SF10
ENSG00000075043ENST00000636614A0A1B0GUK1
ENSG00000075043ENST00000637193A0A1B0GW14

Expression (GTEx)

0
50
100
150
200
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

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
369340012024Biallelic variants of KCNQ2 in early infantile developmental and epileptic encephalopathy.0
380499722024Impacted spike frequency adaptation associated with reduction of KCNQ2/3 exacerbates seizure activity in temporal lobe epilepsy.0
381083352024Familial KCNQ2 mutation: a psychiatric perspective.0
381427372024Improved classification and pathogenicity assessment by comprehensive functional studies in a large data set of KCNQ2 variants.0
382361652024Effect of a sensing charge mutation on the deactivation of KV7.2 channels.0
387886592024KCNQ2 mutations cause unique neonatal behavior arrests without motor seizures: Functional characterization.0
388142962024Clinical and genetic analysis of 18 patients with KCNQ2 mutations from South China.0
369340012024Biallelic variants of KCNQ2 in early infantile developmental and epileptic encephalopathy.0
380499722024Impacted spike frequency adaptation associated with reduction of KCNQ2/3 exacerbates seizure activity in temporal lobe epilepsy.0
381083352024Familial KCNQ2 mutation: a psychiatric perspective.0
381427372024Improved classification and pathogenicity assessment by comprehensive functional studies in a large data set of KCNQ2 variants.0
382361652024Effect of a sensing charge mutation on the deactivation of KV7.2 channels.0
387886592024KCNQ2 mutations cause unique neonatal behavior arrests without motor seizures: Functional characterization.0
388142962024Clinical and genetic analysis of 18 patients with KCNQ2 mutations from South China.0
368495272023Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants.0

Citation

Dessen P

KCNQ2 (potassium voltage-gated channel subfamily Q member 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-09-01

Online version: http://atlasgeneticsoncology.org/gene/54856/meetings/gene-fusions/?id=54856