Recombinant Human Gamma-aminobutyric acid receptor subunit gamma-2 (GABRG2), partial

1. Study found that the C588T polymorphism of GABARG2 is associated with an increased risk of developing childhood idiopathic generalized epilepsy and may modulate patients' response to antiepileptic drugs. PMID: 29894917
2. This study demonstrated that GABRG2 expression in gamma2 in the cortical nuclei, and amygdalo-hippocampal/parahippocampal-amygdala transition areas. PMID: 29023704
3. Differential GABRG2 structure disturbances are correlated with disease severity. PMID: 27762395
4. A recurrent GABRG2 missense variant is associated with early-onset seizures, significant motor and speech delays, intellectual disability, hypotonia, movement disorder, dysmorphic features and vision/ocular issues. PMID: 28460589
5. The aim of this case-control study is to investigate whether GABRG2 polymorphisms contribute to susceptibility for Febrile seizure and epilepsy in pooled data of three cohorts, from Malaysia (composed of Malay, Chinese, and Indian), Hong Kong, and Korea. PMID: 26452361
6. Study utilized targeted next-gen sequencing to identify a novel splicing variation (NM_198903.2:c.1249-1G > T) in the GABRG2 gene of a febrile seizure (FS) patient. The potential association of ten selected genetic polymorphisms in IL1RN (86-bp VNTR), IL10 (rs1900872), PTGS2 (8 SNPs, rs689465, rs689466, rs20417, rs13306038, rs201931599, rs689470, rs4648306 and rs4648308) with FS was also examined. PMID: 27871023
7. This study identified a missense de novo mutation in the GABAA receptor gamma2 subunit, P302L, in a patient with Dravet syndrome. The mutation has a novel pathogenic mechanism to cause defects in the conductance and gating of GABAA receptors, which results in hyperexcitability and contributes to the pathogenesis of the genetic epilepsy Dravet syndrome. PMID: 28197552
8. This study demonstrated that rescue of PTZ seizure threshold and thalamocortical oscillations in a Gabrg2+/Q390X KI mouse model of Dravet syndrome/GEFS+ by overexpression of wild-type gamma2HA subunits. PMID: 28586508
9. Defects in GABRG2/GABAergic neurotransmission participate in the pathogenesis of genetic epilepsies including epileptic encephalopathies. PMID: 27864268
10. This review suggest that the pathogenesis of GABRG2 mutations is likely to be due to a combination of reduction of channel function and disturbance of cellular homeostasis due to the presence of mutant protein. PMID: 27367160
11. Nova1 interacts with GABAARgamma2 not only in the central nervous system but also in hepatocellular carcinoma. Nova1's potential mechanism as an oncogene may due to its interaction with GABAA Rgamma2. PMID: 27733149
12. Thus, the presence of active GABA-A receptors, associated with phenotype determination via Ca(2+)-signalling was demonstrated in differentiating human DA neurons. PMID: 27822752
13. common variants of GABRG2, RELN and NRG3 and the GABRG2-RELN-PTCH1 interaction networks might confer altered susceptibility to Hirschsprung disease. PMID: 27889765
14. The gamma2 was the most abundant subunit in all rhombencephalic structures during development and in adults, whereas alpha subunits showed a structure- and age-characteristic distribution. PMID: 26518133
15. GABRG2, in combination with GABRA4, is associated with autism spectrum disorder in an Argentine dataset. PMID: 26239769
16. This study demonstrated that in vivo cortical and thalamic measurements in a mouse model of human genetic childhood absence epilepsy and febrile seizures carrying a point mutation in the gamma2 subunit of the GABA(A) receptor PMID: 25731747
17. Deletion of the N-terminal extension and putative alpha-helix in heteromeric alpha1beta2gamma2 GABAA receptors in the gamma2 subunits reduced the number of functional receptors and incorporation into mature receptors. PMID: 26016529
18. Mutant GABRG2 may be responsible for genetic epilepsy as well neurodegeneration. PMID: 26005849
19. Mutations of the GABRG2 gene may increase the risk of rolandic epilepsy. PMID: 25726841
20. This study demonistrated that epilepsy-associated mutations N79S, R82Q and P83S disrupted GABAA receptor assembly to different extents, an effect that could be potentially rescued by facilitating protein folding and assembly. PMID: 24798517
21. These results present no evidence for an association of rs211037 with JME. Further studies are required to investigate the involvement of the GABRG2 gene in the genetic susceptibility to this epileptic syndrome. PMID: 23287319
22. Study investigated the pathogenesis of febrile seizures by determining how the gamma2 subunit mutation, R177G, altered GABAA receptor biogenesis and physiological properties PMID: 24874541
23. Heterozygous gamma-aminobutyric acid A receptor gamma2 subunit (R43Q) mutation may have an effect in the development of febrile seizures PMID: 24630281
24. results suggest that gamma-aminobutyric acid receptor, gamma2 subtype may be involved in suicidal behaviour in schizophrenia patients with alcohol dependence or abuse. PMID: 24776921
25. The results demonstrated that a nonsense mutation of GABRG2 found in a severe epilepsy phenotype results in abnormal intracellular trafficking of GABAA receptors. PMID: 24480790
26. study found a novel GABRG2(p.R136*) mutation, which extends the spectrum of GABRG2 mutations identified in generalised epilepsy with febrile seizures plus and genetic generalised epilepsy phenotypes, causes GABAA receptor dysfunction, and represents a putative epilepsy mechanism PMID: 24407264
27. Data show that spike-and-wave discharge-free mice harboring the Gabrg2 R43Q mutation had no spatial learning deficit PMID: 24368169
28. A dynamic regulation of the intracellular trafficking of GABA(A) receptors and its involvement in the pathophysiology of epilepsy. (review) PMID: 24912277
29. study could substantiate that among the GABA(A) receptor subunit gene cluster polymorphisms, the GABRG2, rs211037 predisposes susceptibility to epilepsy, irrespective of its phenotype, but not to antiepileptic drug resistance PMID: 24061200
30. The results of this study proposed that stability of trafficking-deficient mutant gamma2 subunits may be a phenotype modifier in the associated genetic epilepsies PMID: 23720301
31. GABRG2 (SNP211037)-C allele could be a suitable marker for prediction of susceptibility to febrile seizures (FS) in Egyptian children. The frequency of CC genotype of GABRG2 gene was higher in children with FS compared to healthy children. PMID: 21983990
32. This study showed significant association of GABRG2 rs211037 with susceptibility to febrile seizure. PMID: 23140995
33. the changes in the steepness of the concentration-response relationship for GABA in the N40S receptor may trigger epilepsy. PMID: 23257655
34. The purpose of the study was to explore the pathogenic mechanisms underlying generalized epilepsy and febrile seizures plus (GEFS+) in a family with a novel gamma2 subunit gene (GABRG2) frameshift mutation. PMID: 23069679
35. The results indicated that the GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome, engaged the cellular quality control machinery to activate nonsense mediated mRNA decay to decrease mutant mRNA levels and produced a truncated signal peptide that was not incorporated into functional receptors. PMID: 22750526
36. Although GABRG2 has been found to be involved in febrile seizures and there is some co-morbidity between epilepsy and migraine, a role for the tested GABRG2 variant in migraine is not supported. PMID: 22572707
37. GABRG2 C588T gene polymorphisms plays a role in seizure occurence. PMID: 22239287
38. The interaction between midazolam and propofol is affected by receptor subtype, and protein kinase phosphorylation influences their interaction on the alpha(1)beta(2)gamma(2)L receptor. PMID: 21474657
39. The results of this study suggested that the GABRG2 mutation, IVS6+2T-->G, reduced surface alphabetagamma2 receptor levels, thus reducing GABAergic inhibition, by reducing GABRG2 transcript level and producing a stable, nonfunctional truncated subunit. PMID: 22539854
40. Mutation analysis of the SCN1B, SCN1A and GABRG2 genes in children affected by Genetic (Generalised) Epilepsy with Febrile Seizures plus was performed PMID: 22011963
41. results from this study do not provide support for the hypothesis of linkage disequilibrium between the GABAA receptor-gamma2 gene and obsessive-compulsive disorder. PMID: 20098824
42. Internalization of GABA(A) receptor gamma2 is not associated with the cellular mechanism underlying febrile seizure genesis in patients with a missense mutation at this receptor. PMID: 21219304
43. GABRG2 subunit expression decreases with age in patient with pediatric epilepsy. PMID: 20132297
44. this study further investigates the role of GABRG2 in the pathogenesis of childhood epilepsy PMID: 20485450
45. truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus PMID: 11748509
46. The GABRG2 gene seems to confer a rare, rather than frequent, major susceptibility effect to common idiopathic absence epilepsy syndromes. PMID: 12117362
47. using full-length or truncated chimeric subunits it was demonstrated that homologous sequences from gamma2 are important for assembly of GABA(A) receptors composed of alpha(1), beta(3), and gamma(2) subunits PMID: 12367595
48. GABRG2 gene might be neither a susceptibility gene for CAE nor in linkage disequilibrium with disease-predisposing sites in the Chinese population PMID: 12384214
49. GABRG2 gene might be one of the susceptibility factors for febrile seizures PMID: 12672902
50. No difference in allele frequency observed for severe myoclonic epilepsy of infancy patients compared to control population. PMID: 12694927

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HGNC: 4087

OMIM: 137164

KEGG: hsa:2566

UniGene: Hs.7195