Property Summary

NCBI Gene PubMed Count 34
Grant Count 18
R01 Count 11
Funding $1,799,617.7
PubMed Score 15.98
PubTator Score 17.57

Knowledge Summary

Patent (1,035)

Expression

  Differential Expression (12)

Disease log2 FC p
astrocytoma -3.100 0.000
posterior fossa group A ependymoma -4.500 0.000
psoriasis 1.200 0.001
glioblastoma -5.100 0.000
oligodendroglioma -3.200 0.000
medulloblastoma -5.200 0.000
atypical teratoid / rhabdoid tumor -5.200 0.000
medulloblastoma, large-cell -5.000 0.000
primitive neuroectodermal tumor -4.400 0.001
pediatric high grade glioma -3.900 0.000
pilocytic astrocytoma -4.500 0.000
pituitary cancer -2.700 0.000

 GWAS Trait (1)

Gene RIF (26)

PMID Text
26239769 GABRA4 is associated with autism spectrum disorder in a dataset from Argentina.
24778259 The ability of neurosteroids to modulate the phosphorylation and membrane insertion of alpha4 subunit-containing GABAARs may underlie the profound effects these endogenous signaling molecules have on neuronal excitability and behavior.
24431441 Transgenic mice with the alpha4betadelta GABAA receptor subunit deletion show increased conditioned place preference, but not from delta-deficient or alpha4-deficient knockout mice.
23561058 The pathway by which GABRA2 initially confers risk for eventual alcohol problems begins with a predisposition to sensation-seeking early in adolescence.
22273344 Association between premenstrual symptom severity and two genes from the gamma-aminobutyric acid (GABA) pathway: steroid-5-alpha-reductase, alpha polypeptide 1 (SRD5A1) and gamma-aminobutyric acid receptor subunit alpha-4 (GABRA4).
21422964 single nucleotide polymorphisms studied in the GABRA4, GABRE, and GABRQ genes are not related to the risk for familial ET.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20602615 Observational study of gene-disease association. (HuGE Navigator)
20468064 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MVSAKKVPAIALSAGVSFALLRFLCLAVCLNESPGQNQKEEKLCTENFTRILDSLLDGYDNRLRPGFGGP      1 - 70
VTEVKTDIYVTSFGPVSDVEMEYTMDVFFRQTWIDKRLKYDGPIEILRLNNMMVTKVWTPDTFFRNGKKS     71 - 140
VSHNMTAPNKLFRIMRNGTILYTMRLTISAECPMRLVDFPMDGHACPLKFGSYAYPKSEMIYTWTKGPEK    141 - 210
SVEVPKESSSLVQYDLIGQTVSSETIKSITGEYIVMTVYFHLRRKMGYFMIQTYIPCIMTVILSQVSFWI    211 - 280
NKESVPARTVFGITTVLTMTTLSISARHSLPKVSYATAMDWFIAVCFAFVFSALIEFAAVNYFTNIQMEK    281 - 350
AKRKTSKPPQEVPAAPVQREKHPEAPLQNTNANLNMRKRTNALVHSESDVGNRTEVGNHSSKSSTVVQES    351 - 420
SKGTPRSYLASSPNPFSRANAAETISAARALPSASPTSIRTGYMPRKASVGSASTRHVFGSRLQRIKTTV    421 - 490
NTIGATGKLSATPPPSAPPPSGSGTSKIDKYARILFPVTFGAFNMVYWVVYLSKDTMEKSESLM          491 - 554
//

Text Mined References (37)

PMID Year Title
26239769 2015 Association between GABA(A) receptor subunit polymorphisms and autism spectrum disorder (ASD).
24778259 2014 Neurosteroids promote phosphorylation and membrane insertion of extrasynaptic GABAA receptors.
24722188 2014 Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
24431441 2014 Tonic inhibition of accumbal spiny neurons by extrasynaptic ?4?? GABAA receptors modulates the actions of psychostimulants.
23937595 2013 A genome-wide search for type 2 diabetes susceptibility genes in an extended Arab family.
23561058 2013 How phenotype and developmental stage affect the genes we find: GABRA2 and impulsivity.
22273344 2012 SRD5A1 genotype frequency differences in women with mild versus severe premenstrual symptoms.
21422964 2011 Gamma-aminobutyric acid GABRA4, GABRE, and GABRQ receptor polymorphisms and risk for essential tremor.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20602615 2010 Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol?
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