LAT2

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Description

The LAT2 (linker for activation of T cells family member 2) is a protein-coding gene located on chromosome 7.

LAT2, short for Linker for activation of T-cells family member 2, is a protein encoded by the LAT2 gene in humans. This gene resides within a region on chromosome 7 (7q11.23) that is frequently deleted in individuals with Williams syndrome, a developmental disorder affecting multiple systems. LAT2 is comprised of at least 14 exons and its gene undergoes alternative splicing, generating 3 transcript variants. Notably, these variants all encode the same protein.

LAT2 is involved in signaling pathways triggered by various receptors, including FCER1 (high affinity immunoglobulin epsilon receptor) in mast cells, BCR (B-cell antigen receptor) in B-cells, and FCGR1 (high affinity immunoglobulin gamma Fc receptor I) in myeloid cells. It facilitates communication between these receptors and downstream intracellular events by recruiting GRB2, a key adaptor protein.

LAT2 is also known as HSPC046, LAB, NTAL, WBSCR15, WBSCR5, WSCR5.

Associated Diseases

• neutrophil immunodeficiency syndrome
• C1 inhibitor deficiency
• immunodeficiency 18
• common variable immunodeficiency
• autoimmune lymphoproliferative syndrome type 2B
• severe combined immunodeficiency due to CARD11 deficiency
• severe combined immunodeficiency due to CTPS1 deficiency
• autoimmune lymphoproliferative syndrome
• BENTA disease
• reticular dysgenesis
• severe combined immunodeficiency due to LAT deficiency
• hyper-IgM syndrome type 3
• immunodeficiency 72 with autoinflammation
• autoimmune lymphoproliferative syndrome type 4
• T-B+ severe combined immunodeficiency due to JAK3 deficiency