CD132
位於人類X染色體的基因
CD132,又称为共用γ链(Common gamma chain,缩写γc),白介素2受体γ亚基(interleukin-2 receptor subunit gamma,缩写IL-2RG)是一种细胞因子受体亚基,存在于至少六种不同的白介素受体中:包括IL-2、IL-4[7]、IL-7[8]、IL-9、IL-15[9]和IL-21的受体。γc是I型细胞因子受体家族中的一种醣蛋白,表达于大部分的淋巴细胞群体,哺乳动物的此基因位于X染色体。
参考文献
编辑- ^ 與CD132相關的疾病;在維基數據上查看/編輯參考.
- ^ 對Interleukin 2 receptor subunit gamma起作用的藥物;在維基數據上查看/編輯參考.
- ^ 3.0 3.1 3.2 GRCh38: Ensembl release 89: ENSG00000147168 - Ensembl, May 2017
- ^ 4.0 4.1 4.2 GRCm38: Ensembl release 89: ENSMUSG00000031304 - Ensembl, May 2017
- ^ Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Russell SM, Keegan AD, Harada N, Nakamura Y, Noguchi M, Leland P, Friedmann MC, Miyajima A, Puri RK, Paul WE. Interleukin-2 receptor gamma chain: a functional component of the interleukin-4 receptor. Science. December 1993, 262 (5141): 1880–3. PMID 8266078. doi:10.1126/science.8266078.
- ^ Noguchi M, Nakamura Y, Russell SM, Ziegler SF, Tsang M, Cao X, Leonard WJ. Interleukin-2 receptor gamma chain: a functional component of the interleukin-7 receptor. Science. December 1993, 262 (5141): 1877–80. PMID 8266077. doi:10.1126/science.8266077.
- ^ Giri JG, Kumaki S, Ahdieh M, Friend DJ, Loomis A, Shanebeck K, DuBose R, Cosman D, Park LS, Anderson DM. Identification and cloning of a novel IL-15 binding protein that is structurally related to the alpha chain of the IL-2 receptor. EMBO J. August 1995, 14 (15): 3654–63. PMC 394440 . PMID 7641685.
延伸阅读
编辑- Buckley RH. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Annu Rev Immunol. 2004, 22: 625–55. PMID 15032591. doi:10.1146/annurev.immunol.22.012703.104614.
- Kalman L, Lindegren ML, Kobrynski L, Vogt R, Hannon H, Howard JT, Buckley R. Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review. Genet Med. 2004, 6 (1): 16–26. PMID 14726805. doi:10.1097/01.GIM.0000105752.80592.A3.
- Ellery JM, Nicholls PJ. Alternate signalling pathways from the interleukin-2 receptor. Cytokine Growth Factor Rev. 2002, 13 (1): 27–40. PMID 11750878. doi:10.1016/S1359-6101(01)00023-5.
- Takeshita T, Asao H, Ohtani K, Ishii N, Kumaki S, Tanaka N, Munakata H, Nakamura M, Sugamura K. Cloning of the gamma chain of the human IL-2 receptor. Science. July 1992, 257 (5068): 379–82. PMID 1631559. doi:10.1126/science.1631559.
- Burton J, Goldman CK, Rao P, Moos M, Waldmann TA. Association of intercellular adhesion molecule 1 with the multichain high-affinity interleukin 2 receptor. Proc. Natl. Acad. Sci. U.S.A. September 1990, 87 (18): 7329–33. PMC 54737 . PMID 1976256. doi:10.1073/pnas.87.18.7329.
- Oyaizu N, Chirmule N, Kalyanaraman VS, Hall WW, Pahwa R, Shuster M, Pahwa S. Human immunodeficiency virus type 1 envelope glycoprotein gp120 produces immune defects in CD4+ T lymphocytes by inhibiting interleukin 2 mRNA. Proc. Natl. Acad. Sci. U.S.A. March 1990, 87 (6): 2379–83. PMC 53690 . PMID 2315327. doi:10.1073/pnas.87.6.2379.
- Kornfeld H, Cruikshank WW, Pyle SW, Berman JS, Center DM. Lymphocyte activation by HIV-1 envelope glycoprotein. Nature. September 1988, 335 (6189): 445–8. PMID 2843775. doi:10.1038/335445a0.
- Bamborough P, Hedgecock CJ, Richards WG. The interleukin-2 and interleukin-4 receptors studied by molecular modelling. Structure. 1995, 2 (9): 839–51. PMID 7529123. doi:10.1016/S0969-2126(94)00085-9.
- Clark PA, Lester T, Genet S, Jones AM, Hendriks R, Levinsky RJ, Kinnon C. Screening for mutations causing X-linked severe combined immunodeficiency in the IL-2R gamma chain gene by single-strand conformation polymorphism analysis. Hum. Genet. October 1995, 96 (4): 427–32. PMID 7557965. doi:10.1007/BF00191801.
- Pepper AE, Buckley RH, Small TN, Puck JM. Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency. Am. J. Hum. Genet. September 1995, 57 (3): 564–71. PMC 1801277 . PMID 7668284.
- Ohbo K, Takasawa N, Ishii N, Tanaka N, Nakamura M, Sugamura K. Functional analysis of the human interleukin 2 receptor gamma chain gene promoter. J. Biol. Chem. March 1995, 270 (13): 7479–86. PMID 7706294. doi:10.1074/jbc.270.13.7479.
- Puck JM, Pepper AE, Bédard PM, Laframboise R. Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency. J. Clin. Invest. February 1995, 95 (2): 895–9. PMC 295580 . PMID 7860773. doi:10.1172/JCI117740.
- DiSanto JP, Rieux-Laucat F, Dautry-Varsat A, Fischer A, de Saint Basile G. Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells. Proc. Natl. Acad. Sci. U.S.A. September 1994, 91 (20): 9466–70. PMC 44833 . PMID 7937790. doi:10.1073/pnas.91.20.9466.
- Russell SM, Johnston JA, Noguchi M, Kawamura M, Bacon CM, Friedmann M, Berg M, McVicar DW, Witthuhn BA, Silvennoinen O. Interaction of IL-2R beta and gamma c chains with Jak1 and Jak3: implications for XSCID and XCID. Science. November 1994, 266 (5187): 1042–5. PMID 7973658. doi:10.1126/science.7973658.
- Ishii N, Asao H, Kimura Y, Takeshita T, Nakamura M, Tsuchiya S, Konno T, Maeda M, Uchiyama T, Sugamura K. Impairment of ligand binding and growth signaling of mutant IL-2 receptor gamma-chains in patients with X-linked severe combined immunodeficiency. J. Immunol. August 1994, 153 (3): 1310–7. PMID 8027558.
- Johnson K, Choi Y, Wu Z, Ciardelli T, Granzow R, Whalen C, Sana T, Pardee G, Smith K, Creasey A. Soluble IL-2 receptor beta and gamma subunits: ligand binding and cooperativity. Eur. Cytokine Netw. 1994, 5 (1): 23–34. PMID 8049354.
- Markiewicz S, Subtil A, Dautry-Varsat A, Fischer A, de Saint Basile G. Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor gamma chain gene in SCIDX1 that differently affect the mRNA processing. Genomics. May 1994, 21 (1): 291–3. PMID 8088810. doi:10.1006/geno.1994.1265.
- Kondo M, Takeshita T, Ishii N, Nakamura M, Watanabe S, Arai K, Sugamura K. Sharing of the interleukin-2 (IL-2) receptor gamma chain between receptors for IL-2 and IL-4. Science. December 1993, 262 (5141): 1874–7. PMID 8266076. doi:10.1126/science.8266076.