LAT2
LAT2 (Linker For Activation Of T Cells Family Member 2) is a Protein Coding gene. This gene 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. Diseases associated with LAT2 include Williams-Beuren Syndrome. Among its related pathways are Immune response Fc epsilon RI pathway and B Cell Receptor Signaling Pathway (sino).
Full Name
linker for activation of T cells family, member 2
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.
Biological Process
Adaptive immune responseIEA:UniProtKB-KW
B cell activationManual Assertion Based On ExperimentIDA:HGNC-UCL
B cell receptor signaling pathwayManual Assertion Based On ExperimentIDA:HGNC-UCL
Calcium-mediated signalingManual Assertion Based On ExperimentIGI:HGNC-UCL
Intracellular signal transductionManual Assertion Based On ExperimentIGI:HGNC-UCL
Mast cell degranulationIEA:UniProtKB-KW
Cellular Location
Cell membrane
Present in lipid rafts.
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.
Topology
Extracellular: 1-5
Helical: 6-26
Cytoplasmic: 27-243
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.
May be polyubiquitinated.
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