Overview:

SH2D1A contains an SH2 domain and a short tail, and expresses at a high level in thymus and lung. It acts as an inhibitor of the SLAM (signaling lymphocyte-activation molecule) proteins by blocking the recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to its docking site. It modifies signal transduction pathways in activated T, B and NK cells. SH2D1A mediates interaction between FYN and SLAMF1 (1). Mutations in SH2D1A are a cause of lymphoproliferative syndrome X-linked type 1 (XLP1) (2).

References:

1. Chan B., et al: SAP couples Fyn to SLAM immune receptors. Nat. Cell Biol. 5:155-160(2003)

2. Dutz, J. P., et al: Lymphocytic vasculitis in X-linked lymphoproliferative disease. Blood 97: 95-100, 2001.