Affinage

GNA11

Guanine nucleotide-binding protein subunit alpha-11 · UniProt P29992

Length
359 aa
Mass
42.1 kDa
Annotated
2026-04-28
85 papers in source corpus 13 papers cited in narrative 16 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

GNA11 encodes Gα11, a ubiquitously expressed α-subunit of the Gq class of heterotrimeric G proteins that couples GPCRs—most notably the calcium-sensing receptor (CaSR)—to phospholipase C-β (PLCβ) activation, generating IP3 and diacylglycerol to drive intracellular calcium mobilization and MAPK signaling (PMID:28833550, PMID:24823460). Somatic activating mutations at Q209 and R183 constitutively activate PLCβ, leading to sustained IP3 production and PKC-dependent activation of RasGRP3→Ras→MAPK signaling, establishing GNA11 as a major oncogenic driver in uveal melanoma; tumor cells compensate for chronic IP3 overproduction by downregulating IP3 receptors, and disruption of the IP3-metabolizing phosphatase INPP5A is synthetically lethal in these cells (PMID:21083380, PMID:24141786, PMID:29490280, PMID:38233483). Germline gain-of-function mutations (e.g., R60L) cause autosomal dominant hypocalcemia type 2 by sensitizing CaSR-Gα11-PLCβ calcium signaling, whereas loss-of-function mutations (e.g., T54M, F220S) that impair GDP binding or the PLCβ-activating hydrophobic cleft cause familial hypocalciuric hypercalcemia type 2 (PMID:24823460, PMID:26729423, PMID:28833550). GNA11 also mediates growth factor–induced endothelial cell migration through regulation of PLCβ3 phosphorylation (PMID:29659033).

Mechanistic history

Synthesis pass · year-by-year structured walk · 12 steps
  1. 1996 Medium

    Establishing that Gna11 is a ubiquitously expressed Gq-family gene tandemly duplicated with the hematopoietic-restricted Gna15 provided the foundational genomic context for understanding GNA11's broad tissue role versus paralog-specific functions.

    Evidence Genomic cloning, gene structure comparison, and tissue expression analysis in mouse

    PMID:8838318

    Open questions at the time
    • No functional data on signaling activity
    • Relationship to human GNA11 regulation not tested
  2. 2010 High

    Identification of somatic activating mutations (Q209L/P, R183) in uveal melanoma tumors—with demonstration that mutant GNA11 constitutively activates MAPK and drives metastatic melanoma in mice—established GNA11 as a bona fide oncogene and defined the key oncogenic residues.

    Evidence Tumor sequencing of uveal melanoma cohorts, GNA11-mutant melanocyte mouse model, MAPK pathway assays

    PMID:21083380

    Open questions at the time
    • Mechanism linking Gα11 to MAPK (intermediate effectors) unknown at this point
    • Role of IP3/calcium arm not yet explored in UVM context
  3. 2013 High

    Demonstrating that PKC acts upstream of ERK in GNAQ/GNA11-mutant cells resolved the signaling hierarchy: mutant Gα11 activates PLCβ→DAG→PKC, which then drives MAPK, providing a rationale for PKC-targeted therapy.

    Evidence PKC inhibitor (AEB071, AHT956) and MEK inhibitor treatment in mutant vs. wild-type cell lines and xenograft models

    PMID:24141786

    Open questions at the time
    • Identity of the PKC-to-Ras intermediary not yet known
    • Contribution of IP3/calcium branch to proliferation uncharacterized
  4. 2013 Medium

    Identification of Egr-1 as a transcriptional activator of the GNA11 promoter revealed a transcriptional regulatory input that could modulate Gα11 expression levels.

    Evidence Promoter-luciferase reporter, EMSA, Egr-1 overexpression with qPCR readout

    PMID:23802749

    Open questions at the time
    • Physiological relevance of Egr-1-driven GNA11 upregulation in vivo not tested
    • No data on whether this regulation is tissue-specific
  5. 2014 High

    Functional characterization of a germline gain-of-function GNA11 mutation (R60L) causing autosomal dominant hypocalcemia demonstrated that Gα11 is the critical transducer coupling CaSR to intracellular calcium in parathyroid physiology.

    Evidence Whole-exome sequencing of affected family, mutant Gα11 expressed in HEK293-CaSR cells with quantitative calcium EC50 measurement

    PMID:24823460

    Open questions at the time
    • Structural basis of R60L gain-of-function not resolved
    • Relative contribution of GNA11 vs. GNAQ to CaSR signaling in parathyroid not dissected
  6. 2016 High

    Characterization of the loss-of-function T54M mutation causing FHH2 revealed that the Gα11 helical/GTPase domain interface is critical for GDP binding and receptor-coupled signaling, explaining a distinct disease mechanism from gain-of-function alleles.

    Evidence 3D homology modeling, functional expression in HEK293-CaSR cells with flow cytometry-based calcium measurement

    PMID:26729423

    Open questions at the time
    • No crystal structure of Gα11 itself; based on homology model
    • Whether T54M affects GTP binding/hydrolysis kinetics not directly measured
  7. 2017 High

    Structure-guided mutagenesis of the Gα11 hydrophobic cleft (including the disease-causing F220S mutation) established this surface as the PLCβ-activation interface, mechanistically linking loss-of-function GNA11 mutations to impaired PLC and MAPK signaling in FHH2.

    Evidence Homology modeling, site-directed mutagenesis of hydrophobic cleft residues, intracellular calcium and ERK assays in HEK293-CaSR cells, cinacalcet rescue in vitro and in vivo

    PMID:28833550

    Open questions at the time
    • Direct structural data (co-crystal of Gα11–PLCβ) still lacking
    • Whether other effectors also engage this cleft not tested
  8. 2018 High

    Identification of RasGRP3 as the critical intermediate linking PKC/DAG downstream of mutant GNA11 to Ras activation closed the gap between Gα11→PLCβ and MAPK, defining the full oncogenic signaling cascade in uveal melanoma.

    Evidence GNA11(Q209L) transgenic mouse model, integrative transcriptomics, siRNA knockdown in human UVM lines, in vivo tumor assays

    PMID:29490280

    Open questions at the time
    • Whether RasGRP3 is activated by DAG directly or via PKC phosphorylation not fully resolved
    • Applicability to non-UVM GNA11-mutant tumors not tested
  9. 2018 Medium

    Showing that GNA11 knockdown selectively impairs FGF2/VEGFA-stimulated endothelial migration (but not proliferation) via PLCβ3 phosphorylation extended Gα11 function beyond GPCR-canonical signaling to growth factor receptor–coupled endothelial biology.

    Evidence siRNA knockdown in HUVECs, migration/proliferation/permeability assays, phospho-PLCβ3 immunoblotting

    PMID:29659033

    Open questions at the time
    • Mechanism by which RTK signaling engages Gα11 is unclear
    • Single siRNA-based study without genetic rescue
  10. 2022 Medium

    Proteomic comparison revealed that GNAQ and GNA11, despite functional overlap in UVM, have distinct protein interaction partners—TET2 binds GNAQ but not GNA11—suggesting paralog-specific effector coupling.

    Evidence Tandem-affinity purification, mass spectrometry, immunoprecipitation

    PMID:35580369

    Open questions at the time
    • Functional consequence of differential TET2 interaction not tested
    • No reciprocal GNA11-specific interactors highlighted
  11. 2023 High

    Demonstrating that mosaic activating GNA11/GNAQ variants hyperactivate calcium signaling through calcium-release-activated channels, and that allele-specific siRNA or CRAC inhibition rescues this, established a calcium-centric pathomechanism for Sturge-Weber-like vascular anomalies and identified a druggable target.

    Evidence Two cellular models of mosaic variants, calcium imaging, allele-specific siRNA, CRAC channel inhibitor

    PMID:37802293

    Open questions at the time
    • In vivo validation of CRAC inhibition in vascular malformation models not shown
    • Relative contribution of IP3R vs. CRAC to pathology not fully resolved
  12. 2024 High

    Genome-scale CRISPR screens identified INPP5A as a synthetic lethal dependency in GNA11/GNAQ-mutant UVM, revealing that mutant cells depend on IP3 metabolism to prevent IP3R-mediated calcium overload and p53-dependent apoptosis—mechanistically separating the IP3/calcium toxicity arm from the pro-proliferative MAPK arm.

    Evidence Genome-scale CRISPR screen, IP3/IP4 measurements, calcium assays, Gq/11 inhibitor, in vivo xenograft validation

    PMID:38233483

    Open questions at the time
    • Clinical translatability of INPP5A targeting not established
    • Whether p53-independent death pathways also contribute is unclear

Open questions

Synthesis pass · forward-looking unresolved questions
  • Key unresolved questions include the direct structural basis of Gα11–PLCβ engagement (no Gα11 co-crystal exists), the mechanism by which Gα11 couples to RTK-driven migration, and whether paralog-specific interactors of GNA11 (distinct from GNAQ) mediate non-overlapping physiological functions.
  • No high-resolution structure of Gα11 alone or in complex with PLCβ
  • Mechanism of Gα11 engagement by growth factor receptor signaling unresolved
  • Paralog-specific effectors of GNA11 versus GNAQ not functionally characterized

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0060089 molecular transducer activity 4 GO:0098772 molecular function regulator activity 4 GO:0003924 GTPase activity 3
Localization
GO:0005886 plasma membrane 3
Pathway
R-HSA-162582 Signal Transduction 7 R-HSA-1643685 Disease 4
Partners
CASRGNAQINPP5APLCB3RASGRP3
Complex memberships
heterotrimeric Gq protein (Gα11/β/γ)

Evidence

Reading pass · 16 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2010 Somatic activating mutations in GNA11 (Q209L/P at codon 209, R183 at exon 4) constitutively activate the MAPK pathway and induce spontaneously metastasizing tumors in a mouse model, establishing GNA11 as an oncogenic driver in uveal melanoma. Tumor sequencing, mouse model with GNA11-mutant melanocytes, MAPK pathway assays The New England journal of medicine High 21083380
2013 GNAQ or GNA11 mutation consistently activates both PKC and MAPK pathways in uveal melanoma; PKC acts upstream of MAPK activation, as PKC inhibition suppresses ERK signaling selectively in GNAQ/GNA11-mutant cells. PKC inhibitor treatment (AEB071, AHT956), MEK inhibitor treatment, signaling assays in mutant vs. wild-type cell lines, xenograft tumor models Oncogene High 24141786
2014 Germline gain-of-function GNA11 mutation (R60L) causes autosomal dominant hypoparathyroidism by increasing intracellular calcium accumulation in response to extracellular calcium with decreased EC50, demonstrating GNA11 couples the calcium-sensing receptor (CaSR) to intracellular calcium signaling in parathyroid cells. Whole-exome sequencing, functional expression of mutant Gα11 R60L in HEK293-CaR cells, intracellular calcium concentration measurement The Journal of clinical endocrinology and metabolism High 24823460
2016 Loss-of-function GNA11 mutation (Thr54Met), located at the interface between the Gα11 helical and GTPase domains, impairs GDP binding and interdomain interactions, resulting in reduced CaSR-mediated intracellular calcium signaling (rightward shift of concentration-response curve), causing familial hypocalciuric hypercalcemia type 2 (FHH2). 3D homology modeling of Gα11, functional expression in HEK293-CaSR cells, flow cytometry-based intracellular calcium measurement Journal of bone and mineral research High 26729423
2016 In vitro expression of mutant GNA11(R183C) activates downstream p38 MAPK signaling pathway, while GNA11(Q209L) activates p38, JNK, and ERK pathways in human cell lines. Transient expression of mutant GNA11 in human cell lines, pathway signaling assays; transgenic mosaic zebrafish model The Journal of investigative dermatology Medium 26778290
2017 GNA11 loss-of-function mutation Phe220Ser disrupts a hydrophobic cleft region critical for activation of phospholipase C (PLC); mutant Gα11 impairs CaSR-mediated intracellular calcium and ERK MAPK signaling, consistent with diminished PLC activation. Engineered mutagenesis of the hydrophobic cleft confirmed its role in PLC signaling. Homology modeling, transient transfection of mutant Gα11 in HEK293-CaSR cells, intracellular calcium and ERK signaling assays, site-directed mutagenesis of hydrophobic cleft residues, cinacalcet rescue in vitro and in vivo Journal of bone and mineral research High 28833550
2018 GNA11(Q209L)-driven uveal melanoma requires RasGRP3 for GNAQ/GNA11-driven Ras activation and tumorigenesis; RasGRP3 is a critical signaling node downstream of mutant GNA11/GNAQ linking G protein activation to Ras/MAPK signaling. GNA11(Q209L) transgenic mouse model, integrative transcriptome analysis of human and murine melanomas, siRNA knockdown in human UM cell lines, in vivo tumor models Cell reports High 29490280
2018 GNA11 knockdown in fetoplacental endothelial cells significantly reduces FGF2- and VEGFA-stimulated cell migration (by ~36% and ~50%) but not proliferation or permeability, with associated elevation of phospholipase C-β3 (PLCβ3) phosphorylation at S537, indicating GNA11 mediates growth factor-induced endothelial migration partially via PLCβ3 regulation. siRNA knockdown of GNA11 in human umbilical vein endothelial cells, migration/proliferation/permeability assays, phospho-PLCβ3 immunoblotting The Journal of physiology Medium 29659033
2022 GNAQ and GNA11 encoded G-proteins have different protein interaction partners; specifically, TET2 (a DNA demethylase) physically interacts with GNAQ but not GNA11, suggesting differential regulation of DNA methylation by the two G-proteins. Tandem-affinity purification, mass spectrometry, immunoprecipitation European journal of cancer Medium 35580369
2023 Disease-causing GNAQ/GNA11 mosaic variants hyperactivate constitutive and ligand-induced intracellular calcium signaling in endothelial cells via calcium-release-activated channels; silencing the variant allele with siRNA corrects both constitutive and ligand-activated calcium signaling; calcium-release-activated channel inhibition rescues ligand-activated signal. Two cellular models of GNAQ/GNA11 mosaic variants, calcium signaling assays, allele-specific siRNA, calcium-release-activated channel inhibitor treatment The Journal of investigative dermatology High 37802293
2024 INPP5A (an inositol phosphatase that dephosphorylates IP3) is a synthetic lethal dependency in GNAQ/GNA11-mutant uveal melanoma cells; mutant cells produce high IP3 and accumulate IP3 upon INPP5A suppression, leading to hyperactivation of IP3-receptor signaling, increased cytosolic calcium, and p53-dependent apoptosis. Genome-scale CRISPR screens, computational cancer dependency analyses, in vitro and in vivo cellular assays, IP3/IP4 measurements, Gq/11 inhibitor experiments Nature cancer High 38233483
2013 The GNA11 promoter contains a functional early growth response 1 (Egr-1) binding site at nt-475/-445; Egr-1 drives >2-fold increase in GNA11 promoter activity and elevates Gα11 mRNA expression, establishing Egr-1 as a transcriptional regulator of GNA11. Promoter cloning and luciferase reporter assays, electrophoretic mobility shift assay (EMSA), Egr-1 expression plasmid, real-time PCR Basic & clinical pharmacology & toxicology Medium 23802749
1996 Mouse Gna11 and Gna15 are tandemly duplicated genes on chromosome 10; Gna11 is ubiquitously expressed while Gna15 is hematopoietic-restricted; both genes contain coding sequences across seven exons with conserved intron positions, consistent with origin by tandem duplication from a common progenitor. Genomic cloning, gene structure analysis, expression pattern analysis, sequence alignment, phylogenetic analysis Genomics Medium 8838318
2024 Constitutively active GNA11/GNAQ in uveal melanoma drives sustained IP3 production downstream of PLCβ, but UVM cells downregulate IP3 receptor (IP3R) expression to uncouple IP3 from ER calcium release, protecting against calcium-driven cell death; restoration of IP3R3 expression re-sensitizes UVM cells to apoptosis. IP3R expression analysis in human UVM tumors, IP3R3 re-expression experiments, apoptosis assays, Gαq/11 inhibitor (FR900359) treatment bioRxivpreprint Medium
2024 Constitutively active GNA11/GNAQ drives spontaneous calcium oscillations in uveal melanoma cells via constitutive IP3 production; these oscillations are abolished by Gq/11 inhibitor FR900359 and are modulated by INPP5A (which dephosphorylates IP3); INPP5A localization to plasma membrane depends on palmitoylation, while prenylation loss results in nucleoplasmic localization. Single-cell calcium imaging, Gq/11 inhibitor treatment, INPP5A inhibitor treatment, GFP-tagged INPP5A subcellular localization, palmitoylation and prenylation site mutagenesis bioRxivpreprint Medium
2025 In collecting lymphatic vessels, mechano-activation of GNAQ/GNA11-coupled GPCRs generates IP3, which induces SR calcium release through IP3R1 and drives depolarization through ANO1 chloride channels, mediating pressure-induced chronotropy; TRP mechanosensitive channels are not required for this process. Ex vivo contraction assays, scRNA-seq, transgenic mice with genetic deletion of specific channels, pharmacological inhibitors bioRxivpreprint Medium

Source papers

Stage 0 corpus · 85 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2010 Mutations in GNA11 in uveal melanoma. The New England journal of medicine 1162 21083380
2013 Combined PKC and MEK inhibition in uveal melanoma with GNAQ and GNA11 mutations. Oncogene 162 24141786
2016 Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis. The Journal of investigative dermatology 127 26778290
2016 Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma. American journal of human genetics 125 27058448
2012 Combination small molecule MEK and PI3K inhibition enhances uveal melanoma cell death in a mutant GNAQ- and GNA11-dependent manner. Clinical cancer research : an official journal of the American Association for Cancer Research 120 22733540
2017 A somatic GNA11 mutation is associated with extremity capillary malformation and overgrowth. Angiogenesis 108 28120216
2014 GNAQ and GNA11 mutations in uveal melanoma. Melanoma research 97 25304237
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. The American journal of surgical pathology 92 26645730
2014 Mutation frequencies of GNAQ, GNA11, BAP1, SF3B1, EIF1AX and TERT in uveal melanoma: detection of an activating mutation in the TERT gene promoter in a single case of uveal melanoma. British journal of cancer 86 24423917
2013 Patient survival in uveal melanoma is not affected by oncogenic mutations in GNAQ and GNA11. British journal of cancer 83 23778528
2017 GNAQ and GNA11 mutations and downstream YAP activation in choroidal nevi. British journal of cancer 74 28809862
2003 FNBP2 gene on human chromosome 1q32.1 encodes ARHGAP family protein with FCH, FBH, RhoGAP and SH3 domains. International journal of molecular medicine 71 12736724
2018 GNA11 Q209L Mouse Model Reveals RasGRP3 as an Essential Signaling Node in Uveal Melanoma. Cell reports 69 29490280
2021 Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause. Nature genetics 66 34385710
2014 Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization. The Journal of clinical endocrinology and metabolism 63 24823460
2003 Reduced expression of GNA11 and silencing of MCT1 in human breast cancers. Oncology 55 12759536
2015 Mutation scanning of BRAF, NRAS, KIT, and GNAQ/GNA11 in oral mucosal melanoma: a study of 57 cases. Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology 53 26399561
2014 The phosphoinositide 3-kinase α selective inhibitor BYL719 enhances the effect of the protein kinase C inhibitor AEB071 in GNAQ/GNA11-mutant uveal melanoma cells. Molecular cancer therapeutics 53 24563540
2013 GNA11 and N-RAS mutations: alternatives for MAPK pathway activating GNAQ mutations in primary melanocytic tumours of the central nervous system. Neuropathology and applied neurobiology 47 22758774
2018 GNAS, GNAQ, and GNA11 alterations in patients with diverse cancers. Cancer 43 30204251
2013 Ultradeep sequencing detects GNAQ and GNA11 mutations in cell-free DNA from plasma of patients with uveal melanoma. Cancer medicine 42 23634288
2016 BRAF, NRAS, KIT, TERT, GNAQ/GNA11 mutation profile analysis of head and neck mucosal melanomas: a study of 42 cases. Pathology 39 27914687
2019 High frequency of GNA14, GNAQ, and GNA11 mutations in cherry hemangioma: a histopathological and molecular study of 85 cases indicating GNA14 as the most commonly mutated gene in vascular neoplasms. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 38 31189994
2016 A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2). Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 36 26729423
2017 Frequent GNAQ, GNA11, and EIF1AX Mutations in Iris Melanoma. Investigative ophthalmology & visual science 35 28700778
2017 Cinacalcet Rectifies Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss-of-Function Gα11 Mutation. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 34 28833550
2016 Symptomatic Congenital Hemangioma and Congenital Hemangiomatosis Associated With a Somatic Activating Mutation in GNA11. JAMA dermatology 33 27438697
2015 Distribution of GNAQ and GNA11 Mutation Signatures in Uveal Melanoma Points to a Light Dependent Mutation Mechanism. PloS one 33 26368812
2013 Identification of HRAS mutations and absence of GNAQ or GNA11 mutations in deep penetrating nevi. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 32 23599145
2021 The Arabidopsis histone demethylase JMJ28 regulates CONSTANS by interacting with FBH transcription factors. The Plant cell 31 33604650
2020 GNAQ and GNA11 mutant nonuveal melanoma: a subtype distinct from both cutaneous and uveal melanoma. The British journal of dermatology 31 32064597
2016 Gnaq and Gna11 in the Endothelin Signaling Pathway and Melanoma. Frontiers in genetics 29 27148356
2019 GNA11 joins GNAQ and GNA14 as a recurrently mutated gene in anastomosing hemangioma. Virchows Archiv : an international journal of pathology 28 31707589
2019 Ubiquitylome profiling of Parkin-null brain reveals dysregulation of calcium homeostasis factors ATP1A2, Hippocalcin and GNA11, reflected by altered firing of noradrenergic neurons. Neurobiology of disease 27 30763678
2022 GNA11-mutated Sturge-Weber syndrome has distinct neurological and dermatological features. European journal of neurology 26 35715928
1996 Gene structure of murine Gna11 and Gna15: tandemly duplicated Gq class G protein alpha subunit genes. Genomics 25 8838318
2022 In uveal melanoma Gα-protein GNA11 mutations convey a shorter disease-specific survival and are more strongly associated with loss of BAP1 and chromosomal alterations than Gα-protein GNAQ mutations. European journal of cancer (Oxford, England : 1990) 23 35580369
2014 Oncogenic GNAQ and GNA11 mutations in uveal melanoma in Chinese. PloS one 23 25280020
2021 GNA14, GNA11, and GNAQ Mutations Are Frequent in Benign but Not Malignant Cutaneous Vascular Tumors. Frontiers in genetics 22 34040639
2019 Heterogeneity in Mitogen-Activated Protein Kinase (MAPK) Pathway Activation in Uveal Melanoma With Somatic GNAQ and GNA11 Mutations. Investigative ophthalmology & visual science 22 31173078
2014 YAP inhibition blocks uveal melanogenesis driven by GNAQ or GNA11 mutations. Molecular & cellular oncology 22 27308390
2017 Frequent and Yet Unreported GNAQ and GNA11 Mutations are Found in Uveal Melanomas. Pathology oncology research : POR 21 29209985
2017 Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia. Endocrine 17 28176280
2016 Impaired growth and intracranial calcifications in autosomal dominant hypocalcemia caused by a GNA11 mutation. European journal of endocrinology 17 27334330
2019 Mutations of GNAQ, GNA11, SF3B1, EIF1AX, PLCB4 and CYSLTR in Uveal Melanoma in Chinese Patients. Ophthalmic research 16 31614358
2016 AP2S1 and GNA11 mutations - not a common cause of familial hypocalciuric hypercalcemia. European journal of endocrinology 16 27913609
2023 GNAQ/GNA11 Mosaicism Causes Aberrant Calcium Signaling Susceptible to Targeted Therapeutics. The Journal of investigative dermatology 14 37802293
2018 The FBH family of bHLH transcription factors controls ACC synthase expression in sugarcane. Journal of experimental botany 14 29514290
2013 Lack of GNAQ and GNA11 Germ-Line Mutations in Familial Melanoma Pedigrees with Uveal Melanoma or Blue Nevi. Frontiers in oncology 13 23825798
2019 Do GNAQ and GNA11 Differentially Affect Inflammation and HLA Expression in Uveal Melanoma? Cancers 12 31394807
2017 Detection of BRAF, NRAS, KIT, GNAQ, GNA11 and MAP2K1/2 mutations in Russian melanoma patients using LNA PCR clamp and biochip analysis. Oncotarget 12 28881731
2012 BRAF, GNAQ, and GNA11 mutations and copy number in pediatric low-grade glioma. FEBS open bio 12 23650591
2024 INPP5A phosphatase is a synthetic lethal target in GNAQ and GNA11-mutant melanomas. Nature cancer 11 38233483
2020 Melanoma Ex Blue Nevus With GNA11 Mutation and BAP1 Loss: Case Report and Review of the Literature. The American Journal of dermatopathology 11 32310862
2016 Investigation of Somatic GNAQ, GNA11, BAP1 and SF3B1 Mutations in Ophthalmic Melanocytomas. Ocular oncology and pathology 11 27239460
2013 Mutational analysis of the GNA11, MMP27, FGD1, TRRAP and GRM3 genes in thyroid cancer. Oncology letters 11 24137342
2023 GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 10 36970776
2019 Oral pyogenic granulomas show MAPK/ERK signaling pathway activation, which occurs independently of BRAF, KRAS, HRAS, NRAS, GNA11, and GNA14 mutations. Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology 9 31310691
2016 GNA11 Mutation in a Patient With Cutaneous Origin Melanoma: A Case Report. Medicine 9 26825879
2015 BRAF, KIT, NRAS, GNAQ and GNA11 mutation analysis in cutaneous melanomas in Turkish population. Indian journal of pathology & microbiology 9 26275246
2008 Cloning, expression pattern, chromosomal localization, and evolution analysis of Porcine gnaq, gna11, and gna14. Biochemical genetics 9 18330691
2023 Papillary Hemangioma Harbors Somatic GNA11 and GNAQ Mutations. The American journal of surgical pathology 8 37750536
2022 Cutis marmorata telangiectatica congenita being caused by postzygotic GNA11 mutations. European journal of medical genetics 8 35351629
2018 GNA11 differentially mediates fibroblast growth factor 2- and vascular endothelial growth factor A-induced cellular responses in human fetoplacental endothelial cells. The Journal of physiology 8 29659033
2017 Uveal Melanoma: GNAQ and GNA11 Mutations in a Greek Population. Anticancer research 8 28982892
2021 S-100-negative, GNA11 mutation-positive intramedullary meningeal melanocytoma of the thoracic spine: A radiographic challenge and histologic anomaly. Surgical neurology international 7 34345456
2022 GNA11 Mutation in an Intracranial Melanocytoma with Orbital Involvement and Nevus of Ota. Ophthalmic plastic and reconstructive surgery 6 34750314
2018 The Role of Mutation Rates of GNAQ or GNA11 in Cases of Uveal Melanoma in Japan. Applied immunohistochemistry & molecular morphology : AIMM 6 28248732
2014 Subcellular distribution patterns and elevated expression of GNA11 and GNA14 proteins in the lungs of humans with pulmonary arterial hypertension. Cell biology international 6 24797109
2024 Double somatic mutations in CTNNB1 and GNA11 in an aldosterone-producing adenoma. Frontiers in endocrinology 5 38505749
2019 Mutation spectrum in GNAQ and GNA11 in Chinese uveal melanoma. Precision clinical medicine 5 35693877
2023 BRAF, NRAS, KIT, TERT, GNAQ/GNA11 Mutation Profile and Histomorphological Analysis of Anorectal Melanomas: A Clinicopathologic Study. Turk patoloji dergisi 4 35642348
2023 Autoantibodies to PAX5, PTCH1, and GNA11 as Serological Biomarkers in the Detection of Hepatocellular Carcinoma in Hispanic Americans. International journal of molecular sciences 4 36835134
2021 Identification and Evaluation of Autoantibody to a Novel Tumor-Associated Antigen GNA11 as a Biomarker in Esophageal Squamous Cell Carcinoma. Frontiers in oncology 4 34568004
2013 Skin metastases in metastatic uveal melanoma: GNAQ/GNA11 mutational analysis as a valuable tool. The British journal of dermatology 4 23464620
2022 The Youngest Infant to Be Diagnosed with Autosomal Dominant Hypocalcemia Type 2 Harboring a Novel Variant of GNA11: A Case Study and Literature Review. Annals of clinical and laboratory science 3 35777808
2021 Mixed vascular naevus syndrome: report of three children with somatic GNA11 mutation and new systemic associations. Clinical and experimental dermatology 3 34260077
2016 Sporadic melanotic schwannoma with overlapping features of melanocytoma bearing a GNA11 mutation in an adolescent girl. Pediatric blood & cancer 3 28012237
2013 Cloning and characterization of the GNA11 promoter and its regulation by early growth response 1. Basic & clinical pharmacology & toxicology 3 23802749
2024 Phenotypic Spectrum of GNA11 R183C Mosaicism. Pediatric dermatology 2 39654261
2024 Somatic GNA11/GNAQ variants in a cohort of Chinese children with phakomatosis pigmentovascularis. Pediatric investigation 1 38910853
2025 A novel homozygous c.301T > C, p.Y101H variant in the GNA11 gene is implicated in familial hypocalciuric hypercalcemia type 2 in a proband with the heterozygous variant present in mother and father - A case report. Scandinavian journal of clinical and laboratory investigation 0 41240382
2025 Uveal Melanocytoma without GNAQ/GNA11 Mutations. Ocular oncology and pathology 0 41403972
2023 Primary Mucosal Melanoma of the Lip With GNA11 Mutation in a 23-Year-Old Pregnant Woman. Cureus 0 37284406
2020 [GNA11 gene rs11084997 polymorphisms might be associated with risk of adult-onset non-surgical hypoparathyroidism]. Zhonghua nei ke za zhi 0 31887832