Property Summary

NCBI Gene PubMed Count 190
PubMed Score 492.80
PubTator Score 265.76

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Disease Target Count P-value
non-small cell lung cancer 2798 1.20574918491493E-25
lung adenocarcinoma 2714 2.67477554280672E-21
osteosarcoma 7933 3.97516183674617E-12
juvenile dermatomyositis 1189 2.61694861945557E-9
ependymoma 2514 2.53681385650602E-7
lung cancer 4473 6.35408393700314E-7
tuberculosis and treatment for 3 months 327 2.23435498318896E-6
atypical teratoid / rhabdoid tumor 4369 5.56259603872122E-6
medulloblastoma, large-cell 6234 1.9412614234073E-5
psoriasis 6685 9.94103304381645E-5
ovarian cancer 8492 1.11917289036737E-4
Pick disease 1893 1.40031418305469E-4
medulloblastoma 1524 3.00049190565781E-4
glioblastoma 5572 3.11340231973883E-4
colon cancer 1475 3.76853139082047E-4
intraductal papillary-mucinous carcinoma (IPMC) 2988 5.77041463739649E-4
intraductal papillary-mucinous adenoma (IPMA) 2956 5.86607187375967E-4
Rheumatoid Arthritis 1171 0.00232194712507794
Crohn's disease 304 0.00749074925128984
ulcerative colitis 2087 0.00861219186268803
adult high grade glioma 2148 0.00911377862063598
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.0105210238533549
progressive supranuclear palsy 674 0.0117609231441542
pancreatic cancer 2300 0.0174416544193097
Breast cancer 3099 0.0270910141274389
Disease Target Count Z-score Confidence
DOID:2415 4 0.0 1.0
Melanoma 261 0.0 1.0
Ocular cancer 5 0.0 1.0
Skin cancer 37 0.0 1.0
Disease Target Count Z-score Confidence
Cancer 2346 4.131 2.1
Mongolian spot 3 3.453 1.7
Impotence 45 3.369 1.7
Disease Target Count
Capillary malformations, congenital 1

Expression

  Differential Expression (25)

Synonym

Accession P50148 O15108 Q13462 Q6NT27 Q92471 Q9BZB9
Symbols GAQ
SWS
CMC1
G-ALPHA-q

Gene

  Ortholog (11)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG
Mouse OMA Inparanoid
Rat OMA Inparanoid
Dog OMA Inparanoid
Horse OMA EggNOG Inparanoid
Cow OMA Inparanoid
Opossum OMA EggNOG Inparanoid
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA Inparanoid
C. elegans OMA EggNOG

Gene RIF (127)

PMID Text
27058448 The Glu209 GNAQ and GNA11 missense variants we identified are common in uveal melanoma and have been shown to constitutively activate MAPK and/or YAP signaling. Our data indicate that chorangioma is probably not the placental counterpart of congenital hemangiomas associated with mutations altering Gln209 in GNAQ or GNA11.
26887939 data suggest that the interaction between this novel region in Galphaq and the effector PKCzeta is a key event in Galphaq signaling.
26865629 findings demonstrate that hNPS-(1-10) is a biased agonist favoring Galphaq-dependent signaling. It may represent a valuable chemical probe for further investigation of the therapeutic potential of human NPS receptor-directed signalingin vivo.
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
26775782 We conclude that enrichment of GNAQ (R183Q) in port-wine stain (PWS) blood vessels may induce consecutive activation of c-Jun N-terminal kinases and extracellular signal regulated kinases, thus contributing to the pathogenesis of PWS.
26368812 Distribution of GNAQ and GNA11 Mutation Signatures in Uveal Melanoma Points to a Light Dependent Mutation Mechanism.
26192947 This is the second largest study on isolated, non-syndromic Port-wine stain; data suggest that GNAQ is the main genetic determinant in this condition. Moreover, isolated port-wine stains are distinct from capillary malformations seen in RASA1 disorders.
25955651 The results suggested that GNAQ mutation induced viability and migration of uveal melanoma cells via Notch signaling activation, which is mediated by YAP dephosphorylation and nuclear translocation.
25732870 Galphaq expression was negatively associated with interleukin-17A expression in RA patients, indicating that Galphaq negatively controlled the differentiation of Th17 cells.
25695059 Involved in the MAPK/ERK, PI3K/AKT, and GNAQ/11 pathways.
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AA Sequence

MTLESIMACCLSEEAKEARRINDEIERQLRRDKRDARRELKLLLLGTGESGKSTFIKQMRIIHGSGYSDE      1 - 70
DKRGFTKLVYQNIFTAMQAMIRAMDTLKIPYKYEHNKAHAQLVREVDVEKVSAFENPYVDAIKSLWNDPG     71 - 140
IQECYDRRREYQLSDSTKYYLNDLDRVADPAYLPTQQDVLRVRVPTTGIIEYPFDLQSVIFRMVDVGGQR    141 - 210
SERRKWIHCFENVTSIMFLVALSEYDQVLVESDNENRMEESKALFRTIITYPWFQNSSVILFLNKKDLLE    211 - 280
EKIMYSHLVDYFPEYDGPQRDAQAAREFILKMFVDLNPDSDKIIYSHFTCATDTENIRFVFAAVKDTILQ    281 - 350
LNLKEYNLV                                                                 351 - 359
//

Text Mined References (196)

PMID Year Title
27265506 2016 ARF6 Is an Actionable Node that Orchestrates Oncogenic GNAQ Signaling in Uveal Melanoma.
27058448 2016 Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma.
26887939 2016 Protein Kinase C ? Interacts with a Novel Binding Region of G?q to Act as a Functional Effector.
26865629 2016 Human Neuropeptide S Receptor Is Activated via a G?q Protein-biased Signaling Cascade by a Human Neuropeptide S Analog Lacking the C-terminal 10 Residues.
26778290 2016 Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis.
26775782 2016 The somatic GNAQ mutation (R183Q) is primarily located within the blood vessels of port wine stains.
26368812 2015 Distribution of GNAQ and GNA11 Mutation Signatures in Uveal Melanoma Points to a Light Dependent Mutation Mechanism.
26192947 2015 Genetic Variants Associated with Port-Wine Stains.
25955651 2015 Mutant GNAQ promotes cell viability and migration of uveal melanoma cells through the activation of Notch signaling.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
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