Property Summary

NCBI Gene PubMed Count 119
PubMed Score 74.33
PubTator Score 149.17

Knowledge Summary

Patent (1,880)

TINX Plot

  Disease Sources (7)

Disease Target Count P-value
posterior fossa group A ependymoma 1511 2.22130337608396E-24
atypical teratoid / rhabdoid tumor 4369 2.15269057979979E-16
pilocytic astrocytoma 3086 2.34187079616161E-16
lung carcinoma 2844 2.00891706079324E-10
oligodendroglioma 2849 2.8991414571363E-10
pediatric high grade glioma 2712 1.76889115127784E-9
glioblastoma 5572 3.65665843285149E-7
primitive neuroectodermal tumor 3031 1.02166419846323E-4
sonic hedgehog group medulloblastoma 1482 1.050092876657E-4
medulloblastoma, large-cell 6234 8.70630562805721E-4
astrocytic glioma 2241 0.00121851799475587
subependymal giant cell astrocytoma 2287 0.0126564107252498
Pick disease 1893 0.0449131111759847
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Alcohol dependence 107 3.011 1.5

Expression

  Differential Expression (13)

Synonym

Accession P18507 F5HB82 Q6GRL6 Q6PCC3 Q9UDB3 Q9UN15
Symbols CAE2
ECA2
GEFSP3

Gene

  Ortholog (8)

Species Source
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Opossum EggNOG Inparanoid
Platypus OMA EggNOG Inparanoid
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG

  TechDev Info (1)

Susumu Tomita Biochemical interactoin

Gene RIF (113)

PMID Text
26239769 GABRG2, in combination with GABRA4, is associated with autism spectrum disorder in an Argentine dataset.
26016529 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.
26005849 Mutant GABRG2 may be responsible for genetic epilepsy as well neurodegeneration.
25731747 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
25726841 Mutations of the GABRG2 gene may increase the risk of rolandic epilepsy.
24912277 A dynamic regulation of the intracellular trafficking of GABA(A) receptors and its involvement in the pathophysiology of epilepsy. (review)
24874541 Study investigated the pathogenesis of febrile seizures by determining how the gamma2 subunit mutation, R177G, altered GABAA receptor biogenesis and physiological properties
24798517 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.
24776921 results suggest that gamma-aminobutyric acid receptor, gamma2 subtype may be involved in suicidal behaviour in schizophrenia patients with alcohol dependence or abuse.
24630281 Heterozygous gamma-aminobutyric acid A receptor gamma2 subunit (R43Q) mutation may have an effect in the development of febrile seizures
More...

AA Sequence

MSSPNIWSTGSSVYSTPVFSQKMTVWILLLLSLYPGFTSQKSDDDYEDYASNKTWVLTPKVPEGDVTVIL      1 - 70
NNLLEGYDNKLRPDIGVKPTLIHTDMYVNSIGPVNAINMEYTIDIFFAQTWYDRRLKFNSTIKVLRLNSN     71 - 140
MVGKIWIPDTFFRNSKKADAHWITTPNRMLRIWNDGRVLYTLRLTIDAECQLQLHNFPMDEHSCPLEFSS    141 - 210
YGYPREEIVYQWKRSSVEVGDTRSWRLYQFSFVGLRNTTEVVKTTSGDYVVMSVYFDLSRRMGYFTIQTY    211 - 280
IPCTLIVVLSWVSFWINKDAVPARTSLGITTVLTMTTLSTIARKSLPKVSYVTAMDLFVSVCFIFVFSAL    281 - 350
VEYGTLHYFVSNRKPSKDKDKKKKNPAPTIDIRPRSATIQMNNATHLQERDEEYGYECLDGKDCASFFCC    351 - 420
FEDCRTGAWRHGRIHIRIAKMDSYARIFFPTAFCLFNLVYWVSYLYL                           421 - 467
//

Text Mined References (122)

PMID Year Title
26239769 2015 Association between GABA(A) receptor subunit polymorphisms and autism spectrum disorder (ASD).
26016529 2015 Assembly, trafficking and function of ?1?2?2 GABAA receptors are regulated by N-terminal regions, in a subunit-specific manner.
26005849 2015 The human epilepsy mutation GABRG2(Q390X) causes chronic subunit accumulation and neurodegeneration.
25731747 2015 Cortical alterations in a model for absence epilepsy and febrile seizures: in vivo findings in mice carrying a human GABA(A)R gamma2 subunit mutation.
25726841 2015 Rare variants in ?-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.
24912277 2014 [GABA(A) receptor trafficking and epilepsy].
24874541 2014 GABAA receptor biogenesis is impaired by the ?2 subunit febrile seizure-associated mutation, GABRG2(R177G).
24798517 2014 Three epilepsy-associated GABRG2 missense mutations at the ?+/?- interface disrupt GABAA receptor assembly and trafficking by similar mechanisms but to different extents.
24776921 2014 Association study of GABRG2 polymorphisms with suicidal behaviour in schizophrenia patients with alcohol use disorder.
24630281 2014 The GABAA receptor ?2 subunit (R43Q) mutation in febrile seizures.
More...