Disease:Defects in LAT2 may be a cause of certain cardiovascular and musculo-skeletal abnormalities observed in Williams-Beuren syndrome (WBS) [MIM:194050]. WBS is a rare developmental disorder. It is a contiguous gene deletion syndrome involving genes from chromosome band 7q11.23. ,Function:Involved in FCER1 (high affinity immunoglobulin epsilon receptor) -mediated signaling in mast cells. May also be involved in BCR (B-cell antigen receptor) -mediated signaling in B-cells and FCGR1 (high affinity immunoglobulin gamma Fc receptor I) -mediated signaling in myeloid cells. Couples activation of these receptors and their associated kinases with distal intracellular events through the recruitment of GRB2. ,PTM:May be polyubiquitinated. ,PTM:Phosphorylated on tyrosines following cross-linking of BCR in B-cells , FCGR1 in myeloid cells , or FCER1 in mast cells; which induces the recruitment of GRB2. ,subcellular location:Present in lipid rafts. ,subunit:When phosphorylated , interacts with GRB2. May also interact with SOS1 , GAB1 and CBL. ,tissue specificity:Highly expressed in spleen , peripheral blood lymphocytes , and germinal centers of lymph nodes. Also expressed in placenta , lung , pancreas and small intestine. Present in B-cells , NK cells and monocytes. Absent from T-cells (at protein level) . ,
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