Affinage

GNA11

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

Length
359 aa
Mass
42.1 kDa
Annotated
2026-06-10
84 papers in source corpus 16 papers cited in narrative 17 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 5/6 claims corpus-supported (83%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

GNA11 encodes Gα11, a ubiquitously expressed alpha subunit of a heterotrimeric Gq-class G protein that couples the calcium-sensing receptor (CaSR) and other GPCRs to phospholipase C, driving intracellular calcium and MAPK signaling (PMID:8838318, PMID:26729423, PMID:28833550, PMID:24823460). Through a hydrophobic cleft required for PLC binding and activation, Gα11 transduces CaSR signaling in parathyroid and kidney cells to control PTH release and urinary calcium excretion; loss-of-function mutations (Thr54Met, Phe220Ser) shift the calcium response curve rightward and cause familial hypocalciuric hypercalcemia type 2, while a gain-of-function mutation (R60L) lowers the EC50 for calcium and causes autosomal dominant hypoparathyroidism (PMID:24823460, PMID:26729423, PMID:28833550). Somatic gain-of-function mutations at Q209 and R183 render Gα11 constitutively active and oncogenic, inducing metastasizing uveal melanoma in mouse models via constitutive MAPK activation, with R183 and Q209 mutants engaging distinct effector pathways (p38 versus p38/JNK/ERK) (PMID:21083380, PMID:26778290, PMID:29490280). Constitutive signaling proceeds through PKC, which sustains MAPK, and parallel PI3K/AKT and Hippo/YAP pathways, such that combined PKC+MEK or MEK+PI3K inhibition produces synergistic tumor suppression (PMID:24141786, PMID:27308390, PMID:22733540). Downstream, mutant Gα11 drives RasGRP3-dependent Ras activation and constitutively elevates IP3, creating a synthetic-lethal dependency on the IP3-degrading enzyme INPP5A whose loss triggers calcium-driven, p53-dependent apoptosis (PMID:29490280, PMID:38233483). In endothelial cells, Gα11 mediates FGF2/VEGFA-stimulated migration via PLCβ3, and mosaic disease variants hyperactivate calcium signaling fueled by CRAC-channel calcium influx (PMID:29659033, PMID:37802293).

Mechanistic history

Synthesis pass · year-by-year structured walk · 14 steps
  1. 1996 Medium

    Establishing the gene's structure and expression pattern provided the foundation for interpreting Gα11 as a broadly acting signaling subunit distinct from its tissue-restricted paralog.

    Evidence Genomic characterization and tissue expression analysis of murine Gna11/Gna15

    PMID:8838318

    Open questions at the time
    • No functional signaling activity assayed
    • Human gene structure inferred from mouse
  2. 2010 High

    Identifying recurrent somatic Q209 and R183 mutations that constitutively activate MAPK and drive metastasizing tumors established GNA11 as a bona fide oncogene rather than a passenger.

    Evidence Sequencing of melanocytic neoplasms plus mutant-expressing mouse model with MAPK readout

    PMID:21083380

    Open questions at the time
    • Effectors linking active Gα11 to MAPK not yet defined
    • Did not distinguish R183 vs Q209 signaling differences
  3. 2013 Medium

    Mapping an Egr-1 binding site in the GNA11 promoter addressed how Gα11 transcript levels are controlled.

    Evidence Promoter luciferase reporter, EMSA, and Egr-1 overexpression with mRNA quantification

    PMID:23802749

    Open questions at the time
    • Physiological contexts driving Egr-1 regulation of GNA11 unknown
    • Relevance to disease states not tested
  4. 2014 High

    Functional dissection of CaSR mutation studies defined the CaSR-Gα11-PLC-calcium axis and showed germline mutations in either direction cause calcium-homeostasis disease.

    Evidence WES, expression of mutant vs wild-type Gα11 in HEK293-CaSR cells, calcium and ERK assays across FHH2 and ADH2 variants

    PMID:24823460 PMID:26729423 PMID:28833550

    Open questions at the time
    • Precise structural basis of CaSR coupling not resolved here
    • In vivo parathyroid/renal mechanism inferred from cellular assays
  5. 2014 Medium

    Discovering PI3K/AKT activation and reciprocal MAPK-AKT crosstalk downstream of mutant Gα11 explained resistance to single-pathway inhibition and rationalized combination therapy.

    Evidence RNAi plus MEK and PI3K inhibitors with proteomic network analysis and apoptosis assays in genotyped UM cell lines

    PMID:22733540

    Open questions at the time
    • Mechanism coupling Gα11 to PI3K not defined
    • Limited to cell lines
  6. 2014 Medium

    Implicating Hippo/YAP as a downstream effector broadened the mutant Gα11 signaling output beyond MAPK.

    Evidence Verteporfin (YAP inhibitor) treatment of Gq/11-mutant UM cells with tumor growth readout

    PMID:27308390

    Open questions at the time
    • Single pharmacological method without genetic validation
    • Mechanism of YAP activation by Gα11 not dissected
  7. 2016 High

    Demonstrating mutation-site-specific effector engagement and dermal melanocytosis in vivo clarified that R183 and Q209 mutants drive distinct pathway repertoires and phenotypes.

    Evidence In vitro expression of R183C vs Q209L in human cells plus mitfa-driven mosaic zebrafish

    PMID:26778290

    Open questions at the time
    • Functional consequence of differential p38/JNK/ERK activation untested
    • Link to tumor versus benign lesion outcome unclear
  8. 2017 High

    Identifying a PLC-binding hydrophobic cleft and rescuing loss-of-function with cinacalcet pinpointed the effector-coupling surface and a therapeutic strategy for FHH2.

    Evidence Homology modeling, site-directed mutagenesis, HEK293-CaSR calcium/ERK assays, in vivo cinacalcet treatment

    PMID:28833550

    Open questions at the time
    • No experimental structure of the Gα11-PLC interface
    • Long-term in vivo efficacy not addressed
  9. 2018 High

    Identifying RasGRP3 as a required mediator connected mutant Gα11 to Ras activation, filling the gap between the G protein and MAPK output.

    Evidence Melanocyte-specific Q209L mouse model, transcriptomics, RasGRP3 knockdown in human and murine systems

    PMID:29490280

    Open questions at the time
    • Mechanism of RasGRP3 activation by Gα11 not fully defined
    • Contribution relative to PKC/PI3K branches unquantified
  10. 2018 Medium

    Defining a Gα11 role in endothelial migration via PLCβ3 extended its function to vascular biology beyond melanoma and calcium homeostasis.

    Evidence siRNA knockdown in HUVECs with migration assay and phospho-PLCβ3 immunoblotting

    PMID:29659033

    Open questions at the time
    • Single-lab knockdown without genetic rescue
    • Receptor coupling FGF2/VEGFA to Gα11 unclear
  11. 2021 High

    Finding GNA11 gain-of-function mutations co-occurring with CTNNB1 in aldosterone-producing adenomas broadened the oncogenic spectrum to adrenal endocrine tumors.

    Evidence WES/targeted sequencing plus adrenocortical cell transfections with aldosterone secretion and gene expression assays

    PMID:34385710

    Open questions at the time
    • Mechanism of additive interaction with CTNNB1 not resolved
    • Signaling pathway driving aldosterone output not mapped
  12. 2022 Medium

    Comparative interactome analysis showed Gα11 and Gαq have distinct binding partners, with TET2 binding Gαq but not Gα11, indicating non-redundant downstream regulation.

    Evidence Tandem-affinity-purification, mass spectrometry, and reciprocal Co-IP

    PMID:35580369

    Open questions at the time
    • Functional consequence of differential interactomes untested
    • Single-lab interactome
  13. 2023 High

    Showing that mosaic Gα11/Gαq variants hyperactivate calcium signaling via CRAC-channel influx, correctable by allele-specific silencing or CRAC inhibition, identified a druggable node in vascular disease.

    Evidence Two cellular mosaicism models, calcium assays, allele-specific siRNA, CRAC channel inhibitor

    PMID:37802293

    Open questions at the time
    • In vivo efficacy of CRAC inhibition not established
    • Link between calcium signal and lesion phenotype not fully traced
  14. 2024 High

    Identifying INPP5A as a synthetic-lethal dependency revealed that mutant Gα11's constitutive IP3 production creates a vulnerability exploitable through IP3/calcium/p53-driven apoptosis.

    Evidence Genome-scale CRISPR screens, INPP5A knockdown in vitro and in vivo, IP3/IP4 and calcium measurement, p53-dependent apoptosis assays

    PMID:38233483

    Open questions at the time
    • No INPP5A-targeting therapeutic demonstrated
    • Generalizability beyond p53-wild-type tumors unclear

Open questions

Synthesis pass · forward-looking unresolved questions
  • How the distinct effector branches (PKC/MAPK, PI3K/AKT, YAP, RasGRP3-Ras, IP3-calcium) are integrated and weighted to determine specific disease phenotypes across tissues remains unresolved.
  • No unified quantitative model of branch contributions
  • No experimental structure of active Gα11 with effectors
  • Tissue-specific determinants of tumor vs endocrine vs vascular outcome unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0060089 molecular transducer activity 4 GO:0098772 molecular function regulator activity 2 GO:0003924 GTPase activity 1
Localization
GO:0005886 plasma membrane 1
Pathway
R-HSA-162582 Signal Transduction 4 R-HSA-1643685 Disease 4 R-HSA-5357801 Programmed Cell Death 2
Partners
CASRINPP5APLCB3RASGRP3
Complex memberships
heterotrimeric Gq/11 G protein

Evidence

Reading pass · 17 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2010 Somatic mutations at Q209 and R183 in GNA11 (encoding Gα11, an alpha subunit of heterotrimeric G proteins) constitutively activate the MAPK pathway and induce spontaneously metastasizing tumors in a mouse model, establishing GNA11 as an oncogene in uveal melanoma. Sequencing of melanocytic neoplasms, mouse model with GNA11-mutant expression, MAPK pathway activation assay The New England journal of medicine High 21083380
2013 PKC activation is a consequence of GNAQ or GNA11 mutation in uveal melanoma, and PKC inhibition suppresses both PKC and MAPK signaling, establishing PKC as a key effector downstream of mutant GNA11. PKC inhibitors alone cannot sustain MAPK suppression, but combined PKC + MEK inhibition produces synergistic anti-tumor effects in vitro and in vivo. Cell line signaling assays with PKC inhibitors (AEB071, AHT956) and MEK inhibitors (PD0325901, MEK162), allograft and xenograft mouse models Oncogene High 24141786
2016 In vitro expression of mutant GNA11(R183C) activates the p38 MAPK signaling pathway, while GNA11(Q209L) activates p38, JNK, and ERK pathways, demonstrating differential downstream signaling depending on mutation site. Mosaic zebrafish expressing GNA11(R183C) under the mitfa promoter develop extensive dermal melanocytosis. In vitro expression of mutant GNA11 in human cell lines, transgenic zebrafish model The Journal of investigative dermatology High 26778290
2014 A germline gain-of-function mutation in GNA11 (R60L) causes autosomal dominant hypoparathyroidism. Functional studies in HEK293 cells stably expressing CaSR showed that R60L Gα11 increases intracellular calcium accumulation in response to extracellular calcium with a significantly decreased EC50, indicating enhanced coupling of the calcium-sensing receptor to Gα11 signaling. R60L was less effective than oncogenic Q209L as an activator of the MAPK pathway. Whole-exome sequencing, functional expression of wild-type and mutant Gα11 in HEK293-CaR cells, intracellular calcium measurement The Journal of clinical endocrinology and metabolism High 24823460
2016 A loss-of-function GNA11 mutation (Thr54Met), located at the interface between the Gα11 helical and GTPase domains, impairs GDP binding and interdomain interactions. Expression in HEK293 cells stably expressing CaSR demonstrated rightward shift of the calcium concentration-response curve (increased EC50), establishing loss-of-function as the mechanism for FHH2. Homology modeling, functional expression in HEK293-CaSR cells, flow cytometry for intracellular calcium measurement Journal of bone and mineral research High 26729423
2017 A loss-of-function GNA11 mutation (Phe220Ser) disrupts a hydrophobic cleft region of Gα11 that is critical for binding to and activating phospholipase C (PLC). Expression of mutant Gα11 in CaSR-expressing HEK293 cells impaired CaSR-mediated intracellular calcium and ERK1/2 MAPK signaling. Engineered mutagenesis of the hydrophobic cleft confirmed its role in PLC activation. The loss-of-function was rescued by cinacalcet (a CaSR-positive allosteric modulator) both in vitro and in vivo. Homology modeling, transient transfection of mutant vs. wild-type Gα11 in HEK293-CaSR cells, calcium signaling assay, ERK phosphorylation assay, site-directed mutagenesis, in vivo cinacalcet treatment Journal of bone and mineral research High 28833550
2018 GNA11(Q209L) mouse model (melanocyte-specific expression) develops uveal melanoma-like pigmented neoplastic lesions from melanocytes in the eye, skin, leptomeninges, lymph nodes, and lungs. Transcriptome analysis identified RasGRP3 as specifically expressed in GNAQ/GNA11-driven melanomas; RasGRP3 is required for GNAQ/GNA11-driven Ras activation and tumorigenesis in human UM cell lines and murine models. Transgenic mouse model (GNA11Q209L melanocyte-specific), integrative transcriptome analysis, RasGRP3 knockdown in human UM cell lines and murine models Cell reports High 29490280
2018 GNA11 knockdown in human fetoplacental endothelial cells (HUVECs under 3% O2) significantly reduces FGF2- and VEGFA-stimulated cell migration but not proliferation or permeability. GNA11 siRNA also elevated FGF2- and VEGFA-induced phosphorylation of phospholipase C-β3 (PLCβ3) at S537, indicating that GNA11 mediates FGF2/VEGFA-induced endothelial migration partly by modulating PLCβ3 activation. siRNA knockdown of GNA11 in HUVECs, cell migration assay, phospho-PLCβ3 and phospho-ERK1/2 immunoblotting The Journal of physiology Medium 29659033
2021 Somatic gain-of-function mutations of GNA11 (Q209H, Q209P, Q209L) co-occur with CTNNB1 mutations in aldosterone-producing adenomas (APAs). Transfections of adrenocortical cells demonstrated additive effects of GNA11 and CTNNB1 mutations on aldosterone secretion and expression of genes upregulated in double-mutant APAs, including LHCGR. Whole-exome sequencing, targeted sequencing, transfection of adrenocortical cells with mutant constructs, aldosterone secretion assay, gene expression analysis Nature genetics High 34385710
2023 Disease-causing GNAQ/GNA11 mosaic variants hyperactivate constitutive and ligand-induced intracellular calcium signaling in endothelial cells. The aberrant ligand-activated calcium signal is fueled by extracellular calcium influx through calcium-release-activated (CRAC) channels. siRNA silencing of the variant allele corrects both signals; a CRAC channel inhibitor rescues the ligand-activated signal. Two cellular models of GNAQ/GNA11 mosaicism, calcium signaling assays, allele-specific siRNA, CRAC channel inhibitor treatment The Journal of investigative dermatology High 37802293
2024 INPP5A is a synthetic lethal dependency in GNAQ/GNA11-mutant uveal melanoma cells. Mutant GNA11/GNAQ cells constitutively produce high levels of IP3; suppression of INPP5A causes IP3 accumulation, hyperactivation of IP3-receptor signaling, increased cytosolic calcium, and p53-dependent apoptosis. GNA11/GNAQ inhibition abolishes elevated IP4 levels (a biomarker of IP3 production) and correlates with INPP5A sensitivity. Genome-scale CRISPR screens, computational cancer dependency analyses, INPP5A knockdown in UM cell lines and in vivo, IP3/IP4 measurement, calcium assay, p53-dependent apoptosis assay Nature cancer High 38233483
2014 YAP (Yes-associated protein) inhibition with verteporfin blocks tumor growth of Gq/11-mutated uveal melanoma cells, implicating the Hippo/YAP pathway as a downstream effector of mutant GNA11/GNAQ. YAP inhibitor (verteporfin) treatment of GNA11/GNAQ-mutant UM cells, tumor growth assay Molecular & cellular oncology Medium 27308390
2013 The GNA11 promoter contains a functional binding site for the transcription factor Egr-1 at nt-475/-445. Egr-1 expression increases GNA11 promoter activity >2-fold and elevates Gα11 mRNA levels, establishing Egr-1 as a transcriptional regulator of GNA11. Promoter cloning, luciferase reporter assay with deletion constructs, electrophoretic mobility shift assay (EMSA), Egr-1 expression plasmid transfection, real-time PCR Basic & clinical pharmacology & toxicology Medium 23802749
1996 Murine Gna11 and Gna15 are tandemly duplicated genes on mouse chromosome 10, spanning 43 kb with 6 kb intergenic region. The coding sequence of Gna11 is contained in seven exons with no evidence for alternative splicing. Gna11 is ubiquitously expressed, whereas Gna15 is restricted to hematopoietic cells. Gene structure characterization, genomic DNA sequencing, expression analysis, phylogenetic analysis Genomics Medium 8838318
2014 GNA11-encoded Gα11 couples the calcium-sensing receptor (CaSR) to phospholipase C (PLC)-mediated intracellular calcium signaling and MAPK signaling in parathyroid cells and kidneys to regulate PTH release and urinary calcium excretion. Loss-of-function mutations in Gα11 result in familial hypocalciuric hypercalcemia type 2 (FHH2). Genetic sequencing, functional expression in HEK293-CaSR cells, intracellular calcium assay, ERK signaling assay Journal of bone and mineral research High 24823460 26729423 28833550
2022 GNAQ and GNA11 proteins have different protein interaction partners as determined by tandem-affinity-purification and mass spectrometry. Specifically, TET2 (Tet Methylcytosine Dioxygenase 2, a DNA demethylation enzyme) physically interacts with GNAQ but not with GNA11, as confirmed by immunoprecipitation, suggesting differential regulation of DNA methylation by the two G-proteins. Tandem-affinity-purification, mass spectrometry, immunoprecipitation European journal of cancer Medium 35580369
2014 GNA11-mutant uveal melanoma cells show activation of both PKC/MAPK and PI3K/AKT pathways downstream of mutant GNAQ/GNA11. Reciprocal activation of MAPK and AKT is observed upon MEK or PI3K inhibition, respectively. Combined MEK + PI3K inhibition induces apoptosis in a GNAQ/11 mutant-dependent manner. RNA interference, MEK inhibitor (GSK1120212) and PI3K inhibitor (GSK2126458) treatment, proteomic network analysis, apoptosis assay in genotyped UM cell lines Clinical cancer research Medium 22733540

Source papers

Stage 0 corpus · 84 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2010 Mutations in GNA11 in uveal melanoma. The New England journal of medicine 1166 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 130 26778290
2016 Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma. American journal of human genetics 127 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 121 22733540
2017 A somatic GNA11 mutation is associated with extremity capillary malformation and overgrowth. Angiogenesis 109 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 93 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 87 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 76 28809862
2018 GNA11 Q209L Mouse Model Reveals RasGRP3 as an Essential Signaling Node in Uveal Melanoma. Cell reports 71 29490280
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
2021 Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause. Nature genetics 69 34385710
2014 Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization. The Journal of clinical endocrinology and metabolism 64 24823460
2003 Reduced expression of GNA11 and silencing of MCT1 in human breast cancers. Oncology 55 12759536
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 54 24563540
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
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 49 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 43 23634288
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 39 31189994
2016 BRAF, NRAS, KIT, TERT, GNAQ/GNA11 mutation profile analysis of head and neck mucosal melanomas: a study of 42 cases. Pathology 39 27914687
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 34 27438697
2015 Distribution of GNAQ and GNA11 Mutation Signatures in Uveal Melanoma Points to a Light Dependent Mutation Mechanism. PloS one 33 26368812
2020 GNAQ and GNA11 mutant nonuveal melanoma: a subtype distinct from both cutaneous and uveal melanoma. The British journal of dermatology 32 32064597
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
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 26 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) 24 35580369
2021 GNA14, GNA11, and GNAQ Mutations Are Frequent in Benign but Not Malignant Cutaneous Vascular Tumors. Frontiers in genetics 23 34040639
2014 Oncogenic GNAQ and GNA11 mutations in uveal melanoma in Chinese. PloS one 23 25280020
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
2023 GNAQ/GNA11 Mosaicism Causes Aberrant Calcium Signaling Susceptible to Targeted Therapeutics. The Journal of investigative dermatology 18 37802293
2017 Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia. Endocrine 18 28176280
2016 Impaired growth and intracranial calcifications in autosomal dominant hypocalcemia caused by a GNA11 mutation. European journal of endocrinology 18 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
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
2008 Cloning, expression pattern, chromosomal localization, and evolution analysis of Porcine gnaq, gna11, and gna14. Biochemical genetics 10 18330691
2023 Papillary Hemangioma Harbors Somatic GNA11 and GNAQ Mutations. The American journal of surgical pathology 9 37750536
2022 Cutis marmorata telangiectatica congenita being caused by postzygotic GNA11 mutations. European journal of medical genetics 9 35351629
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
2021 S-100-negative, GNA11 mutation-positive intramedullary meningeal melanocytoma of the thoracic spine: A radiographic challenge and histologic anomaly. Surgical neurology international 8 34345456
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
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

Missed literature

Know a paper Affinage missed for GNA11? Flag it for the maintainers and the community.

No submissions yet.