| Tclin | Gamma-aminobutyric acid receptor subunit alpha-1 |
This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
Comments
Property Summary
| Ligand Count | 165 |
| NCBI Gene PubMed Count | 121 |
| PubMed Score | 58.41 |
| PubTator Score | 97.18 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| AMYOTROPHIC LATERAL SCLEROSIS 1 | 49 | 0.0 | 0.0 |
| Ataxia | 15 | 0.0 | 0.0 |
| Autistic Disorder | 364 | 0.0 | 0.0 |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19 | 1 | 0.0 | 0.0 |
| Essential tremor | 28 | 0.0 | 0.0 |
| Hepatic encephalopathy | 27 | 0.0 | 0.0 |
| Myoclonic Epilepsy, Juvenile | 7 | 0.0 | 0.0 |
| Ovarian Cysts | 41 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| atypical teratoid / rhabdoid tumor | 5112 | 1.7e-15 |
| glioblastoma | 5792 | 7.8e-12 |
| Astrocytoma, Pilocytic | 3081 | 1.2e-10 |
| medulloblastoma, large-cell | 6241 | 7.5e-07 |
| primitive neuroectodermal tumor | 3035 | 2.5e-05 |
| adult high grade glioma | 3801 | 2.6e-05 |
| ependymoma | 4679 | 2.0e-03 |
| group 3 medulloblastoma | 4104 | 2.4e-03 |
| astrocytic glioma | 2597 | 8.3e-03 |
| subependymal giant cell astrocytoma | 2287 | 1.1e-02 |
| oligodendroglioma | 2850 | 3.0e-02 |
| Parkinson's disease | 392 | 3.8e-02 |
| Pick disease | 1894 | 4.6e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Juvenile myoclonic epilepsy | 21 | 0.0 | 5.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Alcohol dependence | 107 | 3.845 | 1.9 |
| Disease | Target Count |
|---|---|
| Epilepsy, Myoclonic Juvenile | 6 |
| Epileptic Encephalopathy, Early Infantile, 6 | 8 |
| Disease | log2 FC | p |
|---|---|---|
| adult high grade glioma | -4.000 | 2.6e-05 |
| astrocytic glioma | -2.700 | 8.3e-03 |
| Astrocytoma, Pilocytic | -4.900 | 1.2e-10 |
| atypical teratoid / rhabdoid tumor | -4.900 | 1.7e-15 |
| ependymoma | -4.200 | 2.0e-03 |
| glioblastoma | -4.300 | 7.8e-12 |
| group 3 medulloblastoma | -3.700 | 2.4e-03 |
| medulloblastoma, large-cell | -3.200 | 7.5e-07 |
| oligodendroglioma | -2.300 | 3.0e-02 |
| Parkinson's disease | -1.400 | 3.8e-02 |
| Pick disease | -2.100 | 4.6e-02 |
| primitive neuroectodermal tumor | -4.500 | 2.5e-05 |
| subependymal giant cell astrocytoma | -4.341 | 1.1e-02 |
| Species | Source | Disease |
|---|---|---|
| Inparanoid OMA EggNOG | ||
| Inparanoid OMA EggNOG | ||
| Inparanoid OMA EggNOG | ||
| Inparanoid OMA EggNOG | ||
| Inparanoid OMA EggNOG | ||
| Inparanoid OMA EggNOG | ||
| OMA EggNOG | ||
| Inparanoid EggNOG | ||
| Inparanoid OMA | ||
| Inparanoid OMA | ||
| Inparanoid OMA | ||
| OMA EggNOG |
flumazenil
pKi 9.10
CHEMBL2163548
pIC50 5.42
CHEMBL505497
pKi 5.42
CHEMBL146317
pEC50 5.66
CHEMBL471115
pKi 5.69
CHEMBL443736
pKi 5.73
CHEMBL511685
pKi 5.80
CHEMBL461925
pIC50 6.00
CHEMBL45346
pKi 6.04
CHEMBL485829
pKd 6.06
CHEMBL458144
pIC50 6.24
CHEMBL511684
pIC50 6.24
CHEMBL344120
pEC50 6.26
CHEMBL459031
pKi 6.30
CHEMBL461511
pKi 6.30
CHEMBL483158
pIC50 6.31
CHEMBL458317
pIC50 6.33
CHEMBL499964
pKi 6.34
MRKSPGLSDCLWAWILLLSTLTGRSYGQPSLQDELKDNTTVFTRILDRLLDGYDNRLRPGLGERVTEVKT 1 - 70 DIFVTSFGPVSDHDMEYTIDVFFRQSWKDERLKFKGPMTVLRLNNLMASKIWTPDTFFHNGKKSVAHNMT 71 - 140 MPNKLLRITEDGTLLYTMRLTVRAECPMHLEDFPMDAHACPLKFGSYAYTRAEVVYEWTREPARSVVVAE 141 - 210 DGSRLNQYDLLGQTVDSGIVQSSTGEYVVMTTHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVP 211 - 280 ARTVFGVTTVLTMTTLSISARNSLPKVAYATAMDWFIAVCYAFVFSALIEFATVNYFTKRGYAWDGKSVV 281 - 350 PEKPKKVKDPLIKKNNTYAPTATSYTPNLARGDPGLATIAKSATIEPKEVKPETKPPEPKKTFNSVSKID 351 - 420 RLSRIAFPLLFGIFNLVYWATYLNREPQLKAPTPHQ 421 - 456 //
