Recombinant Human Guanine nucleotide-binding protein subunit alpha-11 (GNA11)

1. Results show that postzygotic mosaicism for GNA11 mutations causes an overlapping phenotypic spectrum of vascular and melanocytic birthmarks. PMID: 28083870
2. GNAQ/GNA11Q209 mutations characterized a distinct, albeit uncommon subtype of non-uveal melanoma (0.5-1%). These mutations were essentially melanoma-specific, occurred in all subtypes of this disease (including cutaneous, mucosal, uveal, and unknown primary), and were mutually exclusive with other common melanoma mutations. PMID: 27089234
3. GNA11 mutations are associated with extremity capillary malformations causing overgrowth. PMID: 28120216
4. There were no significant differences in the prevalence of GNAQ and GNA11 mutations between patients with or without metastatic disease PMID: 28444874
5. a novel germline gain-of-function Galpha11 mutation, Val340Met, causing Autosomal Dominant Hypocalcemia Type 2 demonstrates the importance of the Galpha11 C-terminal region for G-protein function and CaSR signal transduction. PMID: 26818911
6. studies have identified a third Galpha11 mutation (Thr54Met) causing Familial Hypocalciuric Hypercalcemia Type 2 and reveal a critical role for the Galpha11 interdomain interface in CaSR signaling and Ca(2+) o homeostasis. PMID: 26729423
7. Adenocarcinomas or adenomas derived from pigmented ciliary epithelium is distinguished from uveal melanoma by the absence of SOX10 expression and presence of the BRAF V600E mutation. PMID: 29059311
8. Mutations in GNAQ and GNA11 genes in Greek uveal melanoma population present frequencies that qualify them as potential targets for customized therapy. PMID: 28982892
9. Sporadic melanotic schwannoma with overlapping features of melanocytoma bearing a GNA11 mutation in an adolescent girl. PMID: 28012237
10. we find iris melanomas to be related genetically to choroidal and ciliary body melanomas, frequently harboring GNAQ, GNA11, and EIF1AX mutations. PMID: 28700778
11. GNAQ and GNA11 mutations occur frequently in mucosal melanoma and may be a prognostic factor for MM. Our data implicate that GNAQ/11 may be potential targets for targeted therapy of mucosal melanoma. PMID: 27498141
12. CGRP family of receptors displays both ligand- and RAMP-dependent signaling bias among the Galphas, Galphai, and Galphaq/11 pathways. PMID: 27566546
13. The identified GNA11 mutation results in biochemical abnormalities typical for autosomal dominant hypocalcemia. Additional features, including short stature and early intracranial calcifications, cosegregated with the mutation. PMID: 27334330
14. In 33 CASR-negative patients with suspected FHH, Data found two (~6%) with a mutation in AP2S1 (p.Arg15Leu and p.Arg15His). Family screening confirmed the genotype-phenotype correlations. Data did not identify any pathogenic mutations in GNA11. PMID: 27913609
15. Driver mutations are rare in mutational hotspots of BRAF, NRAS, KIT, and GNAQ/GNA11 in oral mucosal melanoma. PMID: 26399561
16. 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. PMID: 26994139
17. Mutations in GNA11 gene is associated with malignant uveal melanoma. PMID: 26462151
18. extensive dermal melanocytosis and phakomatosis pigmentovascularis are associated with activating mutations in GNA11 and GNAQ, genes that encode Galpha subunits of heterotrimeric G proteins PMID: 26778290
19. Melanomas associated with blue nevi or mimicking cellular blue nevi commonly have GNA11 mutations. PMID: 26645730
20. Distribution of GNAQ and GNA11 Mutation Signatures in Uveal Melanoma Points to a Light Dependent Mutation Mechanism. PMID: 26368812
21. Oncogenic GNA11 mutation is associated with uveal melanoma. PMID: 25280020
22. Involved in the MAPK/ERK, PI3K/AKT, and GNAQ/11 pathways. PMID: 25695059
23. 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 PMID: 25304237
24. 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. PMID: 25934394
25. melanopsin is a powerful optogenetic tool for the investigation of spatial and temporal aspects of Gq signalling in cardiovascular research PMID: 24576953
26. Our findings indicate that the germline gain-of-function mutation of GNA11 is a cause of autosomal dominant hypoparathyroidism and implicate a novel role for GNA11 in skeletal growth. PMID: 24823460
27. Metastatic uveal melanoma with GNAQ or GNA11 mutations is responsive to PKC inhibitors. PMID: 24141786
28. There was a significant association of GNA11 mutation status with metastatic status in uveal melanoma. PMID: 24970262
29. Increasing Galpha11 protein expression in osteoblasts can alter gene expression and result in a dual mechanism of trabecular bone loss. PMID: 24308950
30. This study identifies HRAS mutations in deep penetrating nevi. The presence of HRAS mutations and absence of GNAQ or GNA11 mutations in deep penetrating nevi suggests classification of these nevi within the Spitz rather than the blue nevus category. PMID: 23599145
31. the PECAM-1.Galphaq/11 mechanosensitive complex contains an endogenous heparan sulfate proteoglycan with HS chains that is critical for junctional complex assembly and regulating the flow response PMID: 24497640
32. There is a specific Egr-1 binding site at nt-475/-445. Egr-1 evoked an increased GNA11 transcription. PMID: 23802749
33. Mutant alleles of the GNA11 or GNAQ genes, which are highly specific for uveal melanoma, were identified in cell-free DNA of 9 of 22 (41%) patients. PMID: 23634288
34. In primary melanocytic tumours, GNA11 and N-RAS mutations represent a mechanism of MAPK pathway activation alternative to the common GNAQ mutations PMID: 22758774
35. GNAQ and GNA11 mutations are, in equal matter, not associated with uveal melanoma patient outcome. PMID: 23778528
36. Letter/Case Report: role of GNAQ/GNA11 mutational analysis in management of choroidal melanoma metastatic to the contralateral orbit. PMID: 23572068
37. Galpha11 mutants with loss of function cause familial hypocalciuric hypercalcemia type 2, and Galpha11 mutants with gain of function cause a clinical disorder designated as autosomal dominant hypocalcemia type 2. PMID: 23802516
38. Genomewide linkage analysis, combined with whole-exome sequencing, revealed two different heterozygous mutations affecting Galpha11 as novel causes of autosomal dominant isolated hypoparathyroidism. PMID: 23802536
39. The vast majority of primary large uveal melanomas harbor mutually-exclusive mutations in GNAQ or GNA11, but very rarely have the oncogenic mutations that are reported commonly in other cancers. PMID: 22977135
40. The results expand the spectrum of GNA11 mutations that may occur in melanocytomas. PMID: 22307269
41. The presumed association of TRH-R with G(q/11)alpha proteins in plasma membranes was verified by RNAi experiments PMID: 22240728
42. [review] Gq transgene activation mediates cardiac hypertrophy in vivo in response to pressure overload; transgenic mice with cardiac-specific deletion of Galphaq family proteins show no ventricular hypertrophy in response to pressure overload PMID: 20531218
43. The DNA obtained is of sufficient quality to carry out genotyping for markers on chromosome 3, 6 and 8, as well as screening for somatic mutations in GNAQ and GNA11 genes. PMID: 21945171
44. Regulation of the epithelial Na+ channel by the RH domain of G protein-coupled receptor kinase, GRK2, and Galphaq/11. PMID: 21464134
45. Benign and malignant blue nevi harbor frequent mutations in the Galphaq class of G-protein alpha subunits, Gnaq and Gna11 proteins. PMID: 21366456
46. Of the uveal melanomas we analyzed, 83% had somatic mutations in GNAQ or GNA11. PMID: 21083380
47. the C-terminal domain participates intimately in the efficacy of B1R and B2R G(q/11) coupling by contributing both positive and negative regulatory epitopes. PMID: 12130679
48. GNA11 is involved in signalling of gonadotropin-releasing hormone receptor, which negatively regulates cell growth. Down-regulation is suggested to be involved in human breast cancers. PMID: 12759536
49. a new signaling pathway by which G alpha(q/11)-coupled receptors specifically induce Rho signaling through a direct interaction of activated G alpha(q/11) subunits with p63RhoGEF. PMID: 15632174
50. regulation of the PLC pathway through the PTH1R is significantly increased by elevating expression of G(11)alpha in osteoblastic cells. PMID: 15693018

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HGNC: 4379

OMIM: 139313

KEGG: hsa:2767

STRING: 9606.ENSP00000078429

UniGene: Hs.650575