Property Summary

NCBI Gene PubMed Count 15
PubMed Score 6.15
PubTator Score 7.16

Knowledge Summary

Patent

No data available

Gene RIF (9)

PMID Text
23169495 We identified truncating mutations in distinct X-linked gamma-aminobutyric acid A (GABAA) receptor subunit-encoding genes, GABRQ and GABRA3.this is the first report of ASD patients with truncating mutations in GABA receptors genes.
22690081 GABRQ plays important roles in hepatocellular carcinoma development and progression
21422964 single nucleotide polymorphisms studied in the GABRA4, GABRE, and GABRQ genes are not related to the risk for familial ET.
20468064 Observational study of gene-disease association. (HuGE Navigator)
19874574 Observational study of gene-disease association. (HuGE Navigator)
19087248 Although GABRQ genes did not show positive association, further studies are necessary to consider the role of other GABA receptor genes in migraine susceptibility
19087248 Observational study of gene-disease association. (HuGE Navigator)
19086053 Observational study of gene-disease association. (HuGE Navigator)
19078961 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MGIRGMLRAAVILLLIRTWLAEGNYPSPIPKFHFEFSSAVPEVVLNLFNCKNCANEAVVQKILDRVLSRY      1 - 70
DVRLRPNFGGAPVPVRISIYVTSIEQISEMNMDYTITMFFHQTWKDSRLAYYETTLNLTLDYRMHEKLWV     71 - 140
PDCYFLNSKDAFVHDVTVENRVFQLHPDGTVRYGIRLTTTAACSLDLHKFPMDKQACNLVVESYGYTVED    141 - 210
IILFWDDNGNAIHMTEELHIPQFTFLGRTITSKEVYFYTGSYIRLILKFQVQREVNSYLVQVYWPTVLTT    211 - 280
ITSWISFWMNYDSSAARVTIGLTSMLILTTIDSHLRDKLPNISCIKAIDIYILVCLFFVFLSLLEYVYIN    281 - 350
YLFYSRGPRRQPRRHRRPRRVIARYRYQQVVVGNVQDGLINVEDGVSSLPITPAQAPLASPESLGSLTST    351 - 420
SEQAQLATSESLSPLTSLSGQAPLATGESLSDLPSTSEQARHSYGVRFNGFQADDSIFPTEIRNRVEAHG    421 - 490
HGVTHDHEDSNESLSSDERHGHGPSGKPMLHHGEKGVQEAGWDLDDNNDKSDCLAIKEQFKCDTNSTWGL    491 - 560
NDDELMAHGQEKDSSSESEDSCPPSPGCSFTEGFSFDLFNPDYVPKVDKWSRFLFPLAFGLFNIVYWVYH    561 - 630
MY                                                                        631 - 632
//

Text Mined References (16)

PMID Year Title
23382219 2013 Structural basis for endosomal trafficking of diverse transmembrane cargos by PX-FERM proteins.
23169495 2013 Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals.
22690081 2012 GABA stimulates human hepatocellular carcinoma growth through overexpressed GABAA receptor theta subunit.
21422964 2011 Gamma-aminobutyric acid GABRA4, GABRE, and GABRQ receptor polymorphisms and risk for essential tremor.
20468064 2010 Association study of 182 candidate genes in anorexia nervosa.
19874574 2009 Genetical genomic determinants of alcohol consumption in rats and humans.
19087248 2008 Investigation of gamma-aminobutyric acid (GABA) A receptors genes and migraine susceptibility.
19086053 2009 Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
19078961 2010 Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype.
15772651 2005 The DNA sequence of the human X chromosome.
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