Property Summary

NCBI Gene PubMed Count 21
Grant Count 5
R01 Count 5
Funding $1,691,881
PubMed Score 25.82
PubTator Score 19.47

Knowledge Summary

Patent (844)

Expression

  Differential Expression (14)

Disease log2 FC p
astrocytic glioma -2.400 0.008
posterior fossa group A ependymoma -3.100 0.000
glioblastoma -3.600 0.000
oligodendroglioma -1.500 0.000
osteosarcoma 1.067 0.000
group 4 medulloblastoma -3.200 0.000
atypical teratoid / rhabdoid tumor -3.100 0.000
medulloblastoma, large-cell -2.900 0.004
primitive neuroectodermal tumor -3.800 0.000
adult high grade glioma -3.400 0.000
pilocytic astrocytoma -3.700 0.000
subependymal giant cell astrocytoma -3.632 0.001
Pick disease -1.200 0.027
psoriasis -1.500 0.000

Synonym

Accession O14764 Q8N4N9
Symbols EJM7
EIG10
GEFSP5

Gene

  TechDev Info (1)

Susumu Tomita Biochemical interactoin

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.
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