Property Summary

NCBI Gene PubMed Count 21
PubMed Score 25.82
PubTator Score 19.47

Knowledge Summary

Patent (844)

Expression

  Differential Expression (14)

Disease log2 FC p
astrocytic glioma -2.400 8.5e-03
posterior fossa group A ependymoma -3.100 2.4e-12
glioblastoma -3.600 1.0e-07
oligodendroglioma -1.500 9.0e-11
osteosarcoma 1.067 2.9e-04
group 4 medulloblastoma -3.200 1.6e-05
atypical teratoid / rhabdoid tumor -3.100 1.0e-05
medulloblastoma, large-cell -2.900 3.6e-03
primitive neuroectodermal tumor -3.800 2.0e-06
adult high grade glioma -3.400 1.4e-05
pilocytic astrocytoma -3.700 2.7e-09
subependymal giant cell astrocytoma -3.632 6.6e-04
Pick disease -1.200 2.7e-02
psoriasis -1.500 1.7e-34

Gene RIF (9)

PMID Text
24249596 Considering our Argentinean ASD sample, it can be inferred that GABRB3 would be involved in the etiology of autism through interaction with GABRD. These results support the hypothesis that GABAR subunit genes are involved in autism.
23756480 Genome-wide association studies identify GABRD mutation releated to juvenile myoclonic epilepsy
21795619 In recombinant human cDNA experiments in HEK293 cells, delta subunit coexpression leads to receptors activated by nanomolar THIP concentrations.
20561060 These findings point to the GABRD gene as a susceptibility gene for COMD.
20561060 Observational study of gene-disease association. (HuGE Navigator)
19874574 Observational study of gene-disease association. (HuGE Navigator)
19289452 Lower delta mRNA levels in schizophrenia might reflect a reduced number of alpha(1)beta(x)delta GABA(A) receptors that could contribute to deficient tonic inhibition and prefrontal cortical dysfunction in schizophrenia.
19086053 Observational study of gene-disease association. (HuGE Navigator)
16023832 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MDAPARLLAPLLLLCAQQLRGTRAMNDIGDYVGSNLEISWLPNLDGLIAGYARNFRPGIGGPPVNVALAL      1 - 70
EVASIDHISEANMEYTMTVFLHQSWRDSRLSYNHTNETLGLDSRFVDKLWLPDTFIVNAKSAWFHDVTVE     71 - 140
NKLIRLQPDGVILYSIRITSTVACDMDLAKYPMDEQECMLDLESYGYSSEDIVYYWSESQEHIHGLDKLQ    141 - 210
LAQFTITSYRFTTELMNFKSAGQFPRLSLHFHLRRNRGVYIIQSYMPSVLLVAMSWVSFWISQAAVPARV    211 - 280
SLGITTVLTMTTLMVSARSSLPRASAIKALDVYFWICYVFVFAALVEYAFAHFNADYRKKQKAKVKVSRP    281 - 350
RAEMDVRNAIVLFSLSAAGVTQELAISRRQRRVPGNLMGSYRSVGVETGETKKEGAARSGGQGGIRARLR    351 - 420
PIDADTIDIYARAVFPAAFAAVNVIYWAAYAM                                          421 - 452
//

Text Mined References (21)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
24249596 2014 Evidence for interaction between markers in GABA(A) receptor subunit genes in an Argentinean autism spectrum disorder population.
23756480 2013 The quest for juvenile myoclonic epilepsy genes.
21795619 2011 Molecular basis for the high THIP/gaboxadol sensitivity of extrasynaptic GABA(A) receptors.
20561060 2010 Association of the GABRD gene and childhood-onset mood disorders.
19874574 2009 Genetical genomic determinants of alcohol consumption in rats and humans.
19289452 2009 Altered markers of tonic inhibition in the dorsolateral prefrontal cortex of subjects with schizophrenia.
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.
18406065 2008 Effect of microdialysis perfusion of 4,5,6,7-tetrahydroisoxazolo-[5,4-c]pyridine-3-ol in the perifornical hypothalamus on sleep-wakefulness: role of delta-subunit containing extrasynaptic GABAA receptors.
16713569 2006 A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16256272 2006 Mutations in GABRA1, GABRA5, GABRG2 and GABRD receptor genes are not a major factor in the pathogenesis of familial focal epilepsy preceded by febrile seizures.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
16023832 2005 Association analysis of the Arg220His variation of the human gene encoding the GABA delta subunit with idiopathic generalized epilepsy.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15115768 2004 GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12119096 2002 The human gamma-aminobutyric acid A receptor delta (GABRD) gene: molecular characterisation and tissue-specific expression.
10965146 2000 Assignment of the human GABAA receptor delta-subunit gene (GABRD) to chromosome band 1p36.3 distal to marker NIB1364 by radiation hybrid mapping.
2176788 1990 The murine GABAA receptor delta-subunit gene: structure and assignment to human chromosome 1.