LAT2
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.
Involvement in disease
LAT2 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of LAT2 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.
Post-translational modifications
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.
May be polyubiquitinated.
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).
Cellular localization
- Cell membrane
- Single-pass type III membrane protein
- Present in lipid rafts.
Alternative names
LAB, NTAL, WBS15, WBSCR15, WBSCR5, HSPC046, LAT2, Linker for activation of T-cells family member 2, Linker for activation of B-cells, Membrane-associated adapter molecule, Non-T-cell activation linker, Williams-Beuren syndrome chromosomal region 15 protein, Williams-Beuren syndrome chromosomal region 5 protein