GeneID: 292


Common Name: REL Type: Gene
Chromosome: 2 (NC_000002.12) Locus: NM_002908.4 (REL)
HUGO Symbol: REL Full Name: REL proto-oncogene, NF-kB subunit
Exons: 11 Introns: 10

The REL gene encodes c-Rel, a member of the Rel/NF-kB family of transcription factors (TFs). The family also includes p65 (RelA), RelB, p105/p50 (NF-κB1) and p100/52 (NF-κB2). These proteins are related through a conserved amino-terminal Rel homology domain (RHD), which is responsible for DNA binding, dimerization, nuclear localization and interaction with inhibitor of NF-κB proteins (IκBs). Rel/NF-kB TFs play an important role in inflammation, immunity, cell proliferation, differentiation, and survival. cREL is implicated in inflammatory response and is a key regulator of numerous cytokines. Variations in this gene associated with acute chest syndrome (ACS) in patients with sickle cell disease. ACS is a form of acute lung injury caused by vaso-occlusion within the pulmonary microvasculature. Etiologies either trigger vaso-occlusion (e.g., infection, asthma, hypoventilation) or are a result of vaso-occlusion (e.g., bone marrow and fat emboli).

Synonyms: I-Rel , c-Rel


Number of entries/variants: 1


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Publications / Origin

  1. Melton CW, Haynes J, Sickle acute lung injury: role of prevention and early aggressive intervention strategies on outcome., Clin. Chest Med., 27(3), 487-502, vii, 2006 PubMed
  2. Oeckinghaus A, Ghosh S, The NF-kappaB family of transcription factors and its regulation., Cold Spring Harb Perspect Biol, 1(4), a000034, 2009 PubMed
  3. 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
  4. Toubiana J, Courtine E, Tores F, Asfar P, Daubin C, Rousseau C, Ouaaz F, Marin N, Cariou A, Chiche JD, Mira JP, Association of REL polymorphisms and outcome of patients with septic shock., Ann Intensive Care, 6(1), 28, 2016 PubMed
Created on 2019-10-02 15:01:35, Last reviewed on (Show full history)

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