| Tclin | Gamma-aminobutyric acid type B receptor subunit 1 |
Isoform 1E may regulate the formation of functional GABBR1/GABBR2 heterodimers by competing for GABBR2 binding. This could explain the observation that certain small molecule ligands exhibit differential affinity for central versus peripheral sites.
This gene encodes a receptor for gamma-aminobutyric acid (GABA), which is the main inhibitory neurotransmitter in the mammalian central nervous system. This receptor functions as a heterodimer with GABA(B) receptor 2. Defects in this gene may underlie brain disorders such as schizophrenia and epilepsy. Alternative splicing generates multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jan 2016]
This gene encodes a receptor for gamma-aminobutyric acid (GABA), which is the main inhibitory neurotransmitter in the mammalian central nervous system. This receptor functions as a heterodimer with GABA(B) receptor 2. Defects in this gene may underlie brain disorders such as schizophrenia and epilepsy. Alternative splicing generates multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jan 2016]
Comments
Property Summary
| Ligand Count | 4 |
| NCBI Gene PubMed Count | 119 |
| PubMed Score | 258.98 |
| PubTator Score | 344.88 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Alcoholism | 45 | 0.0 | 0.0 |
| Autistic Disorder | 364 | 0.0 | 0.0 |
| Cocaine-Related Disorders | 92 | 0.0 | 0.0 |
| Hyperkinesis | 32 | 0.0 | 0.0 |
| Disease | Target Count |
|---|---|
| Alcoholic Intoxication, Chronic | 289 |
| Hyperactive behavior | 91 |
| Schizophrenia | 1160 |
| Disease | Target Count |
|---|---|
| Cataplexy and narcolepsy | 3 |
| Muscle Spasticity of Cerebral Origin | 8 |
| Muscle spasticity of spinal origin | 8 |
| Narcolepsy | 72 |
| Disease | Target Count | P-value |
|---|---|---|
| ependymoma | 4679 | 1.7e-16 |
| medulloblastoma, large-cell | 6241 | 9.5e-08 |
| tuberculosis | 2010 | 2.5e-07 |
| atypical teratoid / rhabdoid tumor | 5112 | 3.5e-07 |
| adult high grade glioma | 3801 | 7.7e-07 |
| Astrocytoma, Pilocytic | 3081 | 1.8e-06 |
| glioblastoma | 5792 | 2.4e-06 |
| group 3 medulloblastoma | 4104 | 2.0e-05 |
| osteosarcoma | 7950 | 2.1e-05 |
| psoriasis | 6694 | 8.4e-05 |
| lung cancer | 4740 | 2.2e-04 |
| Pick disease | 1894 | 6.2e-04 |
| intraductal papillary-mucinous carcinoma (IPMC) | 2989 | 7.4e-04 |
| primitive neuroectodermal tumor | 3035 | 9.2e-04 |
| Waldenstrons macroglobulinemia | 765 | 6.0e-03 |
| intraductal papillary-mucinous neoplasm (IPMN) | 3291 | 7.9e-03 |
| subependymal giant cell astrocytoma | 2287 | 1.4e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Ametropic amblyopia | 6 | 3.939 | 2.0 |
| Cytomegalovirus retinitis | 2 | 3.829 | 1.9 |
| Asthenopia | 10 | 3.683 | 1.8 |
| Paralytic squint | 5 | 3.492 | 1.7 |
| Suppression amblyopia | 8 | 3.477 | 1.7 |
| Griscelli syndrome type 1 | 5 | 3.411 | 1.7 |
| Xerophthalmia | 16 | 3.32 | 1.7 |
| Enophthalmos | 75 | 3.153 | 1.6 |
| Disease | log2 FC | p |
|---|---|---|
| adult high grade glioma | -2.400 | 7.7e-07 |
| Astrocytoma, Pilocytic | 1.200 | 1.8e-06 |
| atypical teratoid / rhabdoid tumor | -3.100 | 3.5e-07 |
| ependymoma | -2.700 | 1.7e-16 |
| glioblastoma | -1.900 | 2.4e-06 |
| group 3 medulloblastoma | -3.500 | 2.0e-05 |
| intraductal papillary-mucinous carcinoma... | -1.100 | 7.4e-04 |
| intraductal papillary-mucinous neoplasm ... | -1.100 | 7.9e-03 |
| lung cancer | -1.800 | 2.2e-04 |
| medulloblastoma, large-cell | -3.700 | 9.5e-08 |
| osteosarcoma | -2.535 | 2.1e-05 |
| Pick disease | -1.500 | 6.2e-04 |
| primitive neuroectodermal tumor | -1.500 | 9.2e-04 |
| psoriasis | -2.700 | 8.4e-05 |
| subependymal giant cell astrocytoma | -3.477 | 1.4e-02 |
| tuberculosis | 2.000 | 2.5e-07 |
| Waldenstrons macroglobulinemia | -1.031 | 6.0e-03 |
MLLLLLLAPLFLRPPGAGGAQTPNATSEGCQIIHPPWEGGIRYRGLTRDQVKAINFLPVDYEIEYVCRGE 1 - 70 REVVGPKVRKCLANGSWTDMDTPSRCVRICSKSYLTLENGKVFLTGGDLPALDGARVDFRCDPDFHLVGS 71 - 140 SRSICSQGQWSTPKPHCQVNRTPHSERRAVYIGALFPMSGGWPGGQACQPAVEMALEDVNSRRDILPDYE 141 - 210 LKLIHHDSKCDPGQATKYLYELLYNDPIKIILMPGCSSVSTLVAEAARMWNLIVLSYGSSSPALSNRQRF 211 - 280 PTFFRTHPSATLHNPTRVKLFEKWGWKKIATIQQTTEVFTSTLDDLEERVKEAGIEITFRQSFFSDPAVP 281 - 350 VKNLKRQDARIIVGLFYETEARKVFCEVYKERLFGKKYVWFLIGWYADNWFKIYDPSINCTVDEMTEAVE 351 - 420 GHITTEIVMLNPANTRSISNMTSQEFVEKLTKRLKRHPEETGGFQEAPLAYDAIWALALALNKTSGGGGR 421 - 490 SGVRLEDFNYNNQTITDQIYRAMNSSSFEGVSGHVVFDASGSRMAWTLIEQLQGGSYKKIGYYDSTKDDL 491 - 560 SWSKTDKWIGGSPPADQTLVIKTFRFLSQKLFISVSVLSSLGIVLAVVCLSFNIYNSHVRYIQNSQPNLN 561 - 630 NLTAVGCSLALAAVFPLGLDGYHIGRNQFPFVCQARLWLLGLGFSLGYGSMFTKIWWVHTVFTKKEEKKE 631 - 700 WRKTLEPWKLYATVGLLVGMDVLTLAIWQIVDPLHRTIETFAKEEPKEDIDVSILPQLEHCSSRKMNTWL 701 - 770 GIFYGYKGLLLLLGIFLAYETKSVSTEKINDHRAVGMAIYNVAVLCLITAPVTMILSSQQDAAFAFASLA 771 - 840 IVFSSYITLVVLFVPKMRRLITRGEWQSEAQDTMKTGSSTNNNEEEKSRLLEKENRELEKIIAEKEERVS 841 - 910 ELRHQLQSRQQLRSRRHPPTPPEPSGGLPRGPPEPPDRLSCDGSRVHLLYK 911 - 961 //
