Property Summary

NCBI Gene PubMed Count 72
Grant Count 57
R01 Count 45
Funding $6,701,054.25
PubMed Score 154.80
PubTator Score 92.03

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (17)

Disease log2 FC p
astrocytoma -1.800 0.000
posterior fossa group A ependymoma -3.800 0.000
psoriasis -1.200 0.014
glioblastoma -2.900 0.000
oligodendroglioma -1.800 0.000
osteosarcoma 4.467 0.000
sonic hedgehog group medulloblastoma -2.600 0.000
atypical teratoid / rhabdoid tumor -2.700 0.000
medulloblastoma, large-cell -1.900 0.001
primitive neuroectodermal tumor -1.300 0.020
colon cancer -2.800 0.000
adult high grade glioma -2.700 0.000
pilocytic astrocytoma -2.100 0.000
subependymal giant cell astrocytoma -2.271 0.039
lung carcinoma 4.100 0.000
ovarian cancer 1.800 0.000
facioscapulohumeral dystrophy 1.500 0.024

Synonym

Accession P09471 P29777 Q8TD72 Q9UMV4
Symbols GNAO
EIEE17
HLA-DQB1
G-ALPHA-o

Gene

MLP Assay (8)

AID Type Active / Inconclusive / Inactive Description
1415 screening 711 / 0 / 217790 Multiplexed high-throughput screen for small molecule regulators of RGS family protein interactions, specifically RGS4-Galphao.
1440 screening 0 / 200607 / 17876 Multiplexed high-throughput screen for small molecule regulators of RGS family protein interactions, specifically RGS19-Galphao.
1441 screening 826 / 0 / 217647 Multiplexed high-throughput screen for small molecule regulators of RGS family protein interactions, specifically RGS16-Galphao.
1838 screening 75 / 0 / 1583 Single point concentration, multiplexed high-throughput screen for confirmation of small molecule regulators of RGS family protein interactions, specifically RGS16-Galphao.
1840 screening 73 / 0 / 1585 Single point concentration, multiplexed high-throughput screen for confirmation of small molecule regulators of RGS family protein interactions, specifically RGS4-Galphao.
1841 screening 89 / 0 / 1568 Single point concentration, multiplexed high-throughput screen for confirmation of small molecule regulators of RGS family protein interactions, specifically RGS19-Galphao.
2828 confirmatory 0 / 0 / 5 Dose response, multiplexed high-throughput screen for small molecule regulators of RGS family protein interactions, specifically RGS16-Galphao with additional round of SAR compounds
2829 confirmatory 0 / 0 / 5 Dose response, multiplexed high-throughput screen for small molecule regulators of RGS family protein interactions, specifically RGS4-Galphao with additional round of SAR compounds.

Gene RIF (20)

PMID Text
26485252 GNAO1 is a disease-causing gene for the autosomal dominant form of early infantile epileptic encephalopathy. The novel pathogenic variant identified in should contribute to our understanding of the expanding spectrum of infantile-onset epilepsy.
26368330 Endothelial cells in capillary malformations are enriched for GNAQ mutations and are likely responsible for the pathophysiology underlying capillary malformation.
26060304 authors report 2 cases of brothers with a severe movement disorder and hypotonia without epilepsy who have been confirmed by whole exome sequencing to have a novel mutation in GNAO1
25966631 Phenotypic spectrum of novel GNAO1 variants in four unrelated female patients included epileptic encephalopathy and involuntary movements with severe developmental delay.
24982418 Galphao-R243H has a mild decrease in nucleotide affinity that causes rapid nucleotide turnover and subsequent hyperactivity in cancer
24549219 Genetic variants of BCL2, GNAO1, and CHD2 are associated with non-obstructive azoospermia risk.
24366063 the present study is the first to demonstrate that GNAO1 is overexpressed in GC and that its overexpression correlates with poor prognosis, as it promotes gastric cancer cell viability.
23993195 These data suggest that aberrant Galphao signaling can cause multiple neurodevelopmental phenotypes, including epileptic encephalopathy and involuntary movements.
23984917 Down-regulation of GNAO1 increases cell proliferation, while suppressing the senescence of hepatocellular carcinoma cells.
22562654 Data show that HEK293T cells transfected with estrogen receptor alpha (ERalpha)+/-Galpha(o) revealed that Galpha(o) stimulated phosphorylation of ERK MAP kinases ERK 1/2 and subsequently increased the phosphorylation of ERalpha on serine 118.
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AA Sequence

MGCTLSAEERAALERSKAIEKNLKEDGISAAKDVKLLLLGAGESGKSTIVKQMKIIHEDGFSGEDVKQYK      1 - 70
PVVYSNTIQSLAAIVRAMDTLGIEYGDKERKADAKMVCDVVSRMEDTEPFSAELLSAMMRLWGDSGIQEC     71 - 140
FNRSREYQLNDSAKYYLDSLDRIGAADYQPTEQDILRTRVKTTGIVETHFTFKNLHFRLFDVGGQRSERK    141 - 210
KWIHCFEDVTAIIFCVALSGYDQVLHEDETTNRMHESLMLFDSICNNKFFIDTSIILFLNKKDLFGEKIK    211 - 280
KSPLTICFPEYTGPNTYEDAAAYIQAQFESKNRSPNKEIYCHMTCATDTNNIQVVFDAVTDIIIANNLRG    281 - 350
CGLY                                                                      351 - 354
//

Text Mined References (73)

PMID Year Title
26485252 2015 Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy.
26368330 2016 Endothelial Cells from Capillary Malformations Are Enriched for Somatic GNAQ Mutations.
26349500 2015 GPR139, an Orphan Receptor Highly Enriched in the Habenula and Septum, Is Activated by the Essential Amino Acids L-Tryptophan and L-Phenylalanine.
26060304 2016 Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation.
26043775 2015 Identification of key genes and pathways in renal cell carcinoma through expression profiling data.
25966631 2016 Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.
25255805 2014 Global profiling of co- and post-translationally N-myristoylated proteomes in human cells.
25177240 2014 Identification of plasma biomarker candidates in glioblastoma using an antibody-array-based proteomic approach.
25014031 2014 Harnessing gene expression networks to prioritize candidate epileptic encephalopathy genes.
24982418 2014 Different biochemical properties explain why two equivalent G? subunit mutants cause unrelated diseases.
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