Recombinant Human Cytokine receptor common subunit gamma (IL2RG) (N75Q), partial

1. This study identifies one novel mutation in the IL2RG gene and another, previously described mutation in the CYBB genes. It is the first report establishing a diagnosis of X-SCID and X-CGD using WES in Chinese patients. PMID: 29388853
2. New insights of common gamma chain in hematological malignancies. PMID: 26748725
3. this study shows that downregulation of miR-3940-5p promotes T-cell activity by targeting the cytokine receptor IL-2R gamma on human cutaneous T-cell lines PMID: 27502164
4. systematic scoping review highlights the many potential uses of soluble interleukin-2 receptor measurement in the diagnosis and treatment of hemophagocytic syndromes. PMID: 28497365
5. A deletion mutation in IL2RG gene results in X-linked severe combined immunodeficiency with an atypical phenotype PMID: 27566612
6. novel missense mutation in Japanese patient results in atypical X-linked severe combined immunodeficiency with the presence of T cells and NK cells and revertant somatic mosaicism PMID: 26407811
7. reversion of mutation in common lymphoid progenitor results in mild phenotype of SCID PMID: 26076747
8. High IL2RG expression is associated with Sezary syndrome. PMID: 26551670
9. Identification of a gammaC splice isoform revealed expression of soluble gammaC proteins (sgammaC). sgammaC directly interacted with surface IL-2Rbeta to suppress IL-2 signaling and to promote pro-inflammatory Th17 cell differentiation. [review] PMID: 26468051
10. Study show the detection of IL2RG mutations in 2 families with X-SCID and identified 2 novel mutations, confirming the X-SCID pedigrees. PMID: 26125817
11. Interleukin 2 receptor subunit gamma mutation is associated with X-linked severe combined immunodeficiency. PMID: 26409833
12. Targeting the binding interface on a shared receptor subunit of a cytokine family enables the inhibition of multiple member cytokines with selectable target spectrum. PMID: 26183780
13. Results demonstrate that IL2Rgamma has an onogenic role in JAK3-mutation-positive leukemias. PMID: 25109334
14. findings suggest that over-expression of the IL2RG gene may be implicated in altered immune response in schizophrenia and contribute to the pathomechanisms of this disorder PMID: 24713359
15. this is the first report on a de novo mutation in the IL2RG gene in a patient born after IVF PMID: 23790094
16. In a patient with a novel IL2RG mutation, gene-reverted CD8+ T cells accumulate over time. PMID: 23403317
17. in humans, signaling through the gammac pathway is not required for prethymic lymphoid commitment or for DNA rearrangement. PMID: 24771849
18. we presented here a novel IL-2Rgammac mutation in a carrier and SCID patient presenting NK cells in the peripheral blood PMID: 23940110
19. Massively parallel sequencing reveals maternal somatic IL2RG mosaicism in an X-linked severe combined immunodeficiency family. PMID: 23683512
20. Tax-specific cytotoxic T-lymphocyte cell treatment significantly decreases human soluble IL-2Rgamma serum concentrations and prolongation of survival time in a mouse model of adult T cell leukemia/lymphoma. PMID: 23733874
21. analysis of multiorgan metastasis of human HER-2+ breast cancer in Rag2-/-;Il2rg-/- mice and treatment with PI3K inhibitor PMID: 22737248
22. These data highlight the central role of IL-15 and gammac-receptor signaling in renal homeostasis. PMID: 22363690
23. the amount of the gamma-chain transducing element is able to influence the transcription of genes involved in cell cycle progression, thus being directly involved in the regulatory control of cell proliferation of malignant hematopoietic cell PMID: 22223761
24. Data imply that IL-21-mediated signaling is critical for long-lived humoral immunity and to restore antibody responses in IL2RG/JAK3-deficient patients after hematopoietic cell transplantation. PMID: 22039266
25. We report a novel X-CID family with a unique mutation in the extracellular part of CD132 with almost normal T-cell counts but defective memory induction PMID: 21831415
26. IL-2R common gamma-chain is epigenetically silenced by nucleophosphin-anaplastic lymphoma kinase (NPM-ALK) and acts as a tumor suppressor by targeting NPM-ALK. PMID: 21715655
27. IL-2Rgamma(c) reconstituted T cells may persist more efficiently than natural killer (NK) cells due to compensation for suboptimal IL-2Rgamma(c) signaling by T cell receptors. PMID: 20592278
28. Tumor-shed PGE(2) impairs IL2Rgammac-signaling to inhibit CD4 T cell survival and is regulated by theaflavins PMID: 19812686
29. Plasma sIL-7Ralpha and sgamma(c) are present as heterocomplexes and sgamma(c) was found to be mainly associated with sIL-7Ralpha PMID: 19494261
30. presence of membrane-associated as well as soluble gamma c in cell lysates and cell free supernatants from peripheral blood lymphocyte cultures; panel of human serum samples was examined and compared with sIL-2R PMID: 12036606
31. In normal lung fibroblasts IL-4 & IL-13 induce gamma c chain & its association with JAK3. In myofibroblasts, constitutive gamma c chain together with JAK3 controls TYK2 phosphorylation & the balance between functional & decoy high-affinity receptors. PMID: 12207328
32. Human IL-21 and IL-4 bind to partially overlapping epitopes of common gamma-chain. PMID: 12504082
33. The development of breast tumour is associated with an increased expression of IL-2 receptor gamma and this expression also seems to be associated with the malignancy of the tumour. PMID: 14680494
34. A mutation in this locus resulting in severe combined immunodeficiency, initially diagnosed as HIV infection. PMID: 15702055
35. The common cytokine receptor gamma-chain is a required signaling subunit of the growth hormone receptor (GHR) complex in B cell lines. Genetic alteration of the IL2RG gene results in growth failure in X-linked severe combined immunodeficiency (X-SCID). PMID: 17082603
36. results confirm that signal transduction via the IL-15R, and hence NK ontogeny, is preferentially retained relative to the IL-7R as gammac expression becomes limiting. PMID: 17363735
37. Review describes current state of knowledge of how the gamma c cytokine network is affected during HIV infection, with a focus on how this impairs CD4+ and CD8+ T cell function while also benefiting the virus itself. PMID: 18417356
38. Report the selective expansion of genetically modified T cells using an antibody/IL2RG receptor chimera. PMID: 18589435
39. This suggests a role for gamma(C) cytokines in the pathogenesis of diseases in which CD127 expression is altered on CD8+ T cells such as in progressive viral infections and cancer. PMID: 19011158
40. Self-sufficient growth of B lymphoblastoid cells in X-linked combined immunodeficiency disease (SCID) cell lines is strongly dependent on common gamma-chain expression. PMID: 19234229
41. the loss of NEDD4 association on IL-2Rgamma(c) is accompanied by a dramatic increase of the half-life of the receptor subunit. PMID: 19615332
42. Transgenic Jak3-dependent common gamma c cytokine signals are not required for naive primary CD4-positive T cell proliferation and cell cycle regulation in vitro. PMID: 19734221
43. Meta-analysis and HuGE review of genotype prevalence, gene-disease association, genetic testing, and healthcare-related. (HuGE Navigator) PMID: 14726805
44. The immature form of the gamma(c) chain is a 54-58 kDa intracellular component localized in the endoplasmic reticulum of resting, unstimulated CD4 T cells. PMID: 11418669

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HGNC: 6010

OMIM: 300400

KEGG: hsa:3561

STRING: 9606.ENSP00000363318

UniGene: Hs.84