This gene is a member of the nuclear factor of activated T cells (NFAT) family. The product of this gene is aDNA-binding protein with aREL-homology region (RHR) and an NFAT-homology region (NHR). This protein is present in thecytosol and onlytranslocates to the nucleus uponT cell receptor (TCR) stimulation, where it becomes a member of the nuclear factors of activated T cells transcription complex. This complex plays a central role in inducing gene transcription during the immune response. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.[6]
Translocation forming an in frame fusions product betweenEWSR1 gene and the NFATc2 gene has been described inbone tumor with aEwing sarcoma-like clinical appearance. The translocation breakpoint led to the loss of the controlling elements of the NFATc2 protein and the fusion of theN terminal region of the EWSR1 gene conferred constant activation of the protein.[7]
^"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.
^Northrop JP, Ho SN, Chen L, Thomas DJ, Timmerman LA, Nolan GP, Admon A, Crabtree GR (Jun 1994). "NF-AT components define a family of transcription factors targeted in T-cell activation".Nature.369 (6480):497–502.Bibcode:1994Natur.369..497N.doi:10.1038/369497a0.PMID8202141.S2CID9920546.
Rao A, Luo C, Hogan PG (1997). "Transcription factors of the NFAT family: regulation and function".Annual Review of Immunology.15:707–747.doi:10.1146/annurev.immunol.15.1.707.PMID9143705.
Auffray C, Behar G, Bois F, Bouchier C, Da Silva C, Devignes MD, Duprat S, Houlgatte R, Jumeau MN, Lamy B (Feb 1995). "[IMAGE: molecular integration of the analysis of the human genome and its expression]".Comptes Rendus de l'Académie des Sciences, Série III.318 (2):263–72.PMID7757816.
Li X, Ho SN, Luna J, Giacalone J, Thomas DJ, Timmerman LA, Crabtree GR, Francke U (1995). "Cloning and chromosomal localization of the human and murine genes for the T-cell transcription factors NFATc and NFATp".Cytogenetics and Cell Genetics.68 (3–4):185–191.doi:10.1159/000133910.PMID7842733.
Ho S, Timmerman L, Northrop J, Crabtree GR (1994). "Cloning and Characterization of NF-ATc and NF-ATp: The Cytoplasmic Components of NF-AT".Mechanisms of Lymphocyte Activation and Immune Regulation V. Advances in Experimental Medicine and Biology. Vol. 365. pp. 167–73.doi:10.1007/978-1-4899-0987-9_17.ISBN978-1-4899-0989-3.PMID7887301.
Jabado N, Le Deist F, Fisher A, Hivroz C (Nov 1994). "Interaction of HIV gp120 and anti-CD4 antibodies with the CD4 molecule on human CD4+ T cells inhibits the binding activity of NF-AT, NF-kappa B and AP-1, three nuclear factors regulating interleukin-2 gene enhancer activity".European Journal of Immunology.24 (11):2646–2652.doi:10.1002/eji.1830241112.PMID7957556.S2CID30435577.
Vacca A, Farina M, Maroder M, Alesse E, Screpanti I, Frati L, Gulino A (Nov 1994). "Human immunodeficiency virus type-1 tat enhances interleukin-2 promoter activity through synergism with phorbol ester and calcium-mediated activation of the NF-AT cis-regulatory motif".Biochemical and Biophysical Research Communications.205 (1):467–474.Bibcode:1994BBRC..205..467V.doi:10.1006/bbrc.1994.2689.PMID7999066.
Jain J, McCaffrey PG, Miner Z, Kerppola TK, Lambert JN, Verdine GL, Curran T, Rao A (Sep 1993). "The T-cell transcription factor NFATp is a substrate for calcineurin and interacts with Fos and Jun".Nature.365 (6444):352–355.Bibcode:1993Natur.365..352J.doi:10.1038/365352a0.PMID8397339.S2CID4283223.
Di Somma MM, Majolini MB, Burastero SE, Telford JL, Baldari CT (Sep 1996). "Cyclosporin A sensitivity of the HIV-1 long terminal repeat identifies distinct p56lck-dependent pathways activated by CD4 triggering".European Journal of Immunology.26 (9):2181–2188.doi:10.1002/eji.1830260933.PMID8814265.S2CID23430217.
Copeland KF, McKay PJ, Rosenthal KL (Jan 1996). "Suppression of the human immunodeficiency virus long terminal repeat by CD8+ T cells is dependent on the NFAT-1 element".AIDS Research and Human Retroviruses.12 (2):143–148.doi:10.1089/aid.1996.12.143.PMID8834464.
