GeneID: 113


Common Name: NFATC2 Type: Gene
Chromosome: 20 (NC_000020.11) Locus: N/A
HUGO Symbol: NFATC2 Full Name: nuclear factor of activated T-cells 2
Exons: 11 Introns: 10

NFATC2 is a member of the nuclear factor of activated T cell (NFAT) family of transcription factors that are regulated by the Ca2+/calcineurin pathway. NFATs are cytosolic proteins composed of a highly-conserved DNA-binding domain and the NFAT homology region (NHR). In resting cells the serine-rich NHR region is phosphorylated. Stimulation of receptors coupled to the Ca2+ signalling pathway activates the phosphatase calcineurin, which in turn dephosphorylates NFATs and mediates their translocation to the nucleus, where they modulate target gene transcription. NFATC2 is predominant in peripheral T lymphocytes and appears to control several immunoregulatory genes that are implicated in diverse immune functions, including thymocyte development, T cell differentiation and self-tolerance, cell-cycle progression and activation-induced apoptosis. Polymorphisms in this gene associated with acute chest syndrome, a type of severe vaso-occlusive episode, in sickle cell patients. Alternate transcriptional splice variants encoding different isoforms have been characterized.

Synonyms: NFAT1 , NFATP


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Publications / Origin

  1. Macian F, NFAT proteins: key regulators of T-cell development and function., Nat. Rev. Immunol. , 5(6), 472-84, 2005 PubMed
  2. Galarneau G, Coady S, Garrett ME, Jeffries N, Puggal M, Paltoo D, Soldano K, Guasch A, Ashley-Koch AE, Telen MJ, Kutlar A, Lettre G, Papanicolaou GJ, Gene-centric association study of acute chest syndrome and painful crisis in sickle cell disease patients., Blood , 122(3), 434-42, 2013 PubMed
Created on 2016-04-27 12:54:34, Last reviewed on (Show full history)

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