LAT2

Chr 7

linker for activation of T cells family member 2

Also known as: HSPC046, LAB, NTAL, WBSCR15, WBSCR5, WSCR5

NCBI Gene: 7462 ENSG00000086730 UniProt: Q9GZY6 OMIM: 605719

LAT2 encodes a transmembrane adaptor protein that couples high-affinity immunoglobulin receptors (including IgE receptors in mast cells and IgG receptors in myeloid cells) with downstream signaling cascades through recruitment of GRB2. LAT2 is located in the 7q11.23 region commonly deleted in Williams syndrome, a multisystem developmental disorder affecting cardiovascular, neurodevelopmental, and other organ systems. The gene shows low constraint against loss-of-function variants (pLI 0.0002), and inheritance follows an autosomal dominant pattern when considering Williams syndrome deletions.

OMIM ResearchSummary from RefSeq, UniProt

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. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.83

LOEUF

Multiple*

Mechanism· predicted