SH2D1A Products

Description

This gene encodes a protein that plays a major role in the bidirectional stimulation of T and B cells. This protein contains an SH2 domain and a short tail. It associates with the signaling lymphocyte-activation molecule, thereby acting as an inhibitor of this transmembrane protein by blocking the recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to its docking site. This protein can also bind to other related surface molecules that are expressed on activated T, B and NK cells, thereby modifying signal transduction pathways in these cells. Mutations in this gene cause lymphoproliferative syndrome X-linked type 1 or Duncan disease, a rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus, with symptoms including severe mononucleosis and malignant lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]

Bioinformatics

Entrez	4068 Human
Uniprot	NP_002342.1 Human
Product By Gene ID	4068
Alternate Names	DSHP DSHPLYP Duncan disease SH2-protein EBVS FLJ92177 IMD5 LYP MTCP1 SAP/SH2D1A SAPlymphoproliferative syndrome SH2 domain containing 1A SH2 domain-containing protein 1A SH2D1A signaling lymphocyte activation molecule-associated protein Signaling lymphocytic activation molecule-associated protein SLAM associated protein/SH2 domain protein 1A SLAM-associated protein T cell signal transduction molecule SAP T-cell signal transduction molecule SAP XLP XLPD XLPDFLJ18687 XLPSH2 domain protein 1A

Research Areas for SH2D1A

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Immune System Diseases
Immunology