| Tclin | Potassium voltage-gated channel subfamily KQT member 4 |
Probably important in the regulation of neuronal excitability. May underlie a potassium current involved in regulating the excitability of sensory cells of the cochlea. KCNQ4 channels are blocked by linopirdin, XE991 and bepridil, whereas clofilium is without significant effect. Muscarinic agonist oxotremorine-M strongly suppress KCNQ4 current in CHO cells in which cloned KCNQ4 channels were coexpressed with M1 muscarinic receptors.
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]
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
| 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 |
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 //
