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

2014-09-01  

Identity

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

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

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA448871celecoxibChemicalPathwayassociated22336956

References

Pubmed IDYearTitleCitations
169905152006Rapid chemically induced changes of PtdIns(4,5)P2 gate KCNQ ion channels.237
222752492012KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.104
245994702014Heteromeric Kv7.2/7.3 channels differentially regulate action potential initiation and conduction in neocortical myelinated axons.58
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
241078682013Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.54
243181942014Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.53
258180412015Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.53
180898372008N-(6-chloro-pyridin-3-yl)-3,4-difluoro-benzamide (ICA-27243): a novel, selective KCNQ2/Q3 potassium channel activator.48
234402082013Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits.48

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/kcnq2