Tclin | Potassium voltage-gated channel subfamily KQT member 4 |
The protein encoded by this gene forms a potassium channel that is thought to play a critical role in the regulation of neuronal excitability, particularly in sensory cells of the cochlea. The current generated by this channel is inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. The encoded protein can form a homomultimeric potassium channel or possibly a heteromultimeric channel in association with the protein encoded by the KCNQ3 gene. Defects in this gene are a cause of nonsyndromic sensorineural deafness type 2 (DFNA2), an autosomal dominant form of progressive hearing loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Comments
Property Summary
Ligand Count | 17 |
NCBI Gene PubMed Count | 57 |
PubMed Score | 109.25 |
PubTator Score | 104.86 |
Disease | Target Count | Z-score | Confidence |
---|---|---|---|
Deafness, Autosomal Dominant 2A | 2 | 0.0 | 0.0 |
Hearing Loss, Noise-Induced | 5 | 0.0 | 0.0 |
Disease | Target Count |
---|---|
Eaton-Lambert syndrome | 40 |
Multiple Sclerosis | 540 |
Partial Epilepsy Treatment Adjunct | 16 |
Disease | Target Count | P-value |
---|---|---|
osteosarcoma | 7950 | 9.1e-07 |
atypical teratoid / rhabdoid tumor | 5112 | 1.3e-05 |
medulloblastoma, large-cell | 6241 | 3.2e-05 |
cystic fibrosis | 1696 | 5.2e-05 |
primitive neuroectodermal tumor | 3035 | 7.9e-05 |
glioblastoma | 5792 | 5.8e-04 |
adult high grade glioma | 3801 | 6.9e-03 |
group 4 medulloblastoma | 1855 | 1.1e-02 |
Breast cancer | 3578 | 2.5e-02 |
oligodendroglioma | 2850 | 3.3e-02 |
Disease | Target Count | Z-score | Confidence |
---|---|---|---|
Nonsyndromic deafness | 142 | 5.095 | 2.5 |
Disease | log2 FC | p |
---|---|---|
adult high grade glioma | -1.300 | 6.9e-03 |
atypical teratoid / rhabdoid tumor | -2.100 | 1.3e-05 |
Breast cancer | -3.500 | 2.5e-02 |
cystic fibrosis | -2.381 | 5.2e-05 |
glioblastoma | -1.200 | 5.8e-04 |
group 4 medulloblastoma | -1.300 | 1.1e-02 |
medulloblastoma, large-cell | -2.300 | 3.2e-05 |
oligodendroglioma | -1.100 | 3.3e-02 |
osteosarcoma | -2.660 | 9.1e-07 |
primitive neuroectodermal tumor | -2.000 | 7.9e-05 |
retigabine
pEC50 5.20
CHEMBL266510
pEC50 5.62
CHEMBL3621437
pEC50 6.20
ML213
pEC50 6.30
NC00075159
- 5.00
flindokalner
5.00
PIP2
3.70
zinc pyrithione
5.00
bepridil
5.00
tetraethylammonium
pIC50 1.30
linopirdine
pIC50 4.90
XE991
pIC50 5.30
MAEAPPRRLGLGPPPGDAPRAELVALTAVQSEQGEAGGGGSPRRLGLLGSPLPPGAPLPGPGSGSGSACG 1 - 70 QRSSAAHKRYRRLQNWVYNVLERPRGWAFVYHVFIFLLVFSCLVLSVLSTIQEHQELANECLLILEFVMI 71 - 140 VVFGLEYIVRVWSAGCCCRYRGWQGRFRFARKPFCVIDFIVFVASVAVIAAGTQGNIFATSALRSMRFLQ 141 - 210 ILRMVRMDRRGGTWKLLGSVVYAHSKELITAWYIGFLVLIFASFLVYLAEKDANSDFSSYADSLWWGTIT 211 - 280 LTTIGYGDKTPHTWLGRVLAAGFALLGISFFALPAGILGSGFALKVQEQHRQKHFEKRRMPAANLIQAAW 281 - 350 RLYSTDMSRAYLTATWYYYDSILPSFRELALLFEHVQRARNGGLRPLEVRRAPVPDGAPSRYPPVATCHR 351 - 420 PGSTSFCPGESSRMGIKDRIRMGSSQRRTGPSKQHLAPPTMPTSPSSEQVGEATSPTKVQKSWSFNDRTR 421 - 490 FRASLRLKPRTSAEDAPSEEVAEEKSYQCELTVDDIMPAVKTVIRSIRILKFLVAKRKFKETLRPYDVKD 491 - 560 VIEQYSAGHLDMLGRIKSLQTRVDQIVGRGPGDRKAREKGDKGPSDAEVVDEISMMGRVVKVEKQVQSIE 561 - 630 HKLDLLLGFYSRCLRSGTSASLGAVQVPLFDPDITSDYHSPVDHEDISVSAQTLSISRSVSTNMD 631 - 695 //