Property Summary

NCBI Gene PubMed Count 86
Grant Count 19
R01 Count 4
Funding $1,085,451.31
PubMed Score 564.23
PubTator Score 83.06

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (12)

Disease log2 FC p
psoriasis 1.400 0.005
osteosarcoma 2.829 0.000
astrocytoma 1.200 0.012
atypical teratoid / rhabdoid tumor -1.500 0.000
medulloblastoma, large-cell -1.600 0.000
primitive neuroectodermal tumor -1.100 0.002
colon cancer -1.100 0.012
adult high grade glioma -1.200 0.001
subependymal giant cell astrocytoma -1.610 0.021
spina bifida -1.234 0.035
ulcerative colitis -1.400 0.000
ovarian cancer 2.100 0.000

Gene RIF (48)

PMID Text
26994139 These findings demonstrate that CaSR-targeted compounds can rectify signaling disturbances caused by germline and somatic Galpha11 mutations, which respectively lead to calcium disorders and tumorigenesis; and that ADH2-causing Galpha11 mutations induce non-constitutive alterations in MAPK signaling.
26778290 extensive dermal melanocytosis and phakomatosis pigmentovascularis are associated with activating mutations in GNA11 and GNAQ, genes that encode Galpha subunits of heterotrimeric G proteins
26645730 Melanomas associated with blue nevi or mimicking cellular blue nevi commonly have GNA11 mutations.
26462151 Mutations in GNA11 gene is associated with malignant uveal melanoma.
26368812 Distribution of GNAQ and GNA11 Mutation Signatures in Uveal Melanoma Points to a Light Dependent Mutation Mechanism.
26100877 Data show that N-linked glycosylation of protease-activated receptor-1 (PAR1) at extracellular loop 2 (ECL2) controls G12/13 versus Gq G-proteins coupling specificity in response to thrombin stimulation.
25934394 Identification of Distinct Conformations of the Angiotensin-II Type 1 Receptor Associated with the Gq/11 Protein Pathway and the beta-Arrestin Pathway Using Molecular Dynamics Simulations.
25695059 Involved in the MAPK/ERK, PI3K/AKT, and GNAQ/11 pathways.
25304237 review discusses the multiple activated signaling targets downstream of mutant GNAQ and GNA11 in uveal melanoma, including MEK, PI3-kinase/Akt, protein kinase C, and YAP
25280020 Oncogenic GNA11 mutation is associated with uveal melanoma.
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AA Sequence

MTLESMMACCLSDEVKESKRINAEIEKQLRRDKRDARRELKLLLLGTGESGKSTFIKQMRIIHGAGYSEE      1 - 70
DKRGFTKLVYQNIFTAMQAMIRAMETLKILYKYEQNKANALLIREVDVEKVTTFEHQYVSAIKTLWEDPG     71 - 140
IQECYDRRREYQLSDSAKYYLTDVDRIATLGYLPTQQDVLRVRVPTTGIIEYPFDLENIIFRMVDVGGQR    141 - 210
SERRKWIHCFENVTSIMFLVALSEYDQVLVESDNENRMEESKALFRTIITYPWFQNSSVILFLNKKDLLE    211 - 280
DKILYSHLVDYFPEFDGPQRDAQAAREFILKMFVDLNPDSDKIIYSHFTCATDTENIRFVFAAVKDTILQ    281 - 350
LNLKEYNLV                                                                 351 - 359
//

Text Mined References (92)

PMID Year Title
26994139 2016 Allosteric Modulation of the Calcium-sensing Receptor Rectifies Signaling Abnormalities Associated with G-protein ?-11 Mutations Causing Hypercalcemic and Hypocalcemic Disorders.
26778290 2016 Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis.
26645730 2016 Melanomas Associated With Blue Nevi or Mimicking Cellular Blue Nevi: Clinical, Pathologic, and Molecular Study of 11 Cases Displaying a High Frequency of GNA11 Mutations, BAP1 Expression Loss, and a Predilection for the Scalp.
26462151 2015 Heterogeneity revealed by integrated genomic analysis uncovers a molecular switch in malignant uveal melanoma.
26368812 2015 Distribution of GNAQ and GNA11 Mutation Signatures in Uveal Melanoma Points to a Light Dependent Mutation Mechanism.
26100877 2015 N-linked glycosylation of protease-activated receptor-1 at extracellular loop 2 regulates G-protein signaling bias.
25934394 2015 Identification of Distinct Conformations of the Angiotensin-II Type 1 Receptor Associated with the Gq/11 Protein Pathway and the ?-Arrestin Pathway Using Molecular Dynamics Simulations.
25695059 2015 Low mutational burden of eight genes involved in the MAPK/ERK, PI3K/AKT, and GNAQ/11 pathways in female genital tract primary melanomas.
25304237 2014 GNAQ and GNA11 mutations in uveal melanoma.
25280020 2014 Oncogenic GNAQ and GNA11 mutations in uveal melanoma in Chinese.
More...