Article
An autoimmune-associated variant in PTPN2 reveals an impairment of IL-2R signaling in CD4(+) T cells.
Genes and immunity - 1 Mar 2011
Long S A, Cerosaletti K, Wan J Y, Ho J-C, Tatum M, Wei S, Shilling H G, Buckner J H
Abstract excerpt
The IL-2/IL-2R signaling pathway has an important role in autoimmunity. Several genes identified in genome-wide association (GWA) studies encode proteins in the IL-2/IL-2R signaling cascade that are associated with autoimmune diseases. One of these, PTPN2, encodes a protein tyrosine phosphatase that is highly expressed in T cells and regulates cytokine signaling. An intronic risk allele in PTPN2, rs1893217(C),...
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