Linker For Activation Of T-Cells Family, Member 2 (LAT2)

LAT2 is one of the contiguous genes at 7q11.23 commonly deleted in Williams syndrome, a multisystem developmental disorder. This gene consists of at least 14 exons, and its alternative splicing generates 3 transcript variants, all encoding the same protein.Sequence analysis predicted that human WBSCR5 is a 243-amino acid nuclear protein, only 48% identical to the mouse sequence, that contains no known motifs. Northern blot analysis detected strong expression of a 1.9-kb transcript in peripheral blood leukocytes, placenta, and lung, with lower expression in spleen, heart, brain, liver, and pancreas.NTAL associated with GRB2, SOS1, and GAB1  after B-cell receptor activation. Phosphorylation of NTAL was strongest in the presence of LCK, ZAP70, SYK, or LYN.