TNFAIP3
In databases:
● Ensembl (http://www.ensembl.org/index.html): ENSG00000118503
● UniProt (http://www.uniprot.org/): P21580
● OMIM (http://www.ncbi.nlm.nih.gov/omim): 191163
● GeneCards (http://www.genecards.org/): TNFAIP3
● HGNC (http://www.genenames.org/): 11896 or TNFAIP3
● Enzyme Number (IUBMB): EC 3.4.19.12, EC 6.3.2
Gene locus:
6q23-q25
Protein name:
Tumor necrosis factor, alpha-induced protein 3 (also known as “NF-kappaB inhibitor A20”)
Protein Size:
790 amino acids; about 90 kDa
Function:
TNFAIP3 is rapidly induced by the tumor necrosis factor (TNF). The protein encoded by this gene has been shown to inhibit NF-kappa B activation as well as TNF-mediated apoptosis. It is critical for limiting inflammatory processes.
Cancer-related alterations
Somatic TNFAIP3 mutations have been identified almost exclusively in haematopoietic and lymphoid tissue tumors (10%-20% of cases). TNFAIP3 is mutated mainly in different subtypes of B-cell lymphomas. It has been identified as tumor suppressor in marginal zone B-cell lymphoma (MZBCL), classical Hodgkin's lymphoma (cHL), diffuse large B-cell lymphoma (DLBCL), primary mediastinal B-cell Lymphoma (PMBL)…
Most TNFAIP3 mutations are nonsense or frameshift that prevent production of full-length TNFAIP3 protein. Deletions are also observed. There are no mutational hot spots.
References (open access):
A20 takes on tumors: tumor suppression by an ubiquitin-editing enzyme. Malynn BA, Ma A. J Exp Med. 2009 May 11;206(5):977-80.
TNFAIP3/A20 functions as a novel tumor suppressor gene in several subtypes of non-Hodgkin lymphomas. Honma K, Tsuzuki S, Nakagawa M, Tagawa H, Nakamura S, Morishima Y, Seto M. Blood. 2009 Sep 17;114(12):2467-75.
Molecular basis for the unique deubiquitinating activity of the NF-kappaB inhibitor A20. Lin SC, Chung JY, Lamothe B, Rajashankar K, Lu M, Lo YC, Lam AY, Darnay BG, Wu H. J Mol Biol. 2008 Feb 15;376(2):526-40.
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