Protein Name SH2 domain containing 1A
Organism Homo sapiens
Gene ID 4068
Gene Symbol

SH2D1A

UniProt O60880 (SH21A_HUMAN)
Relationships Total Number of functionally related compound(s) : 318
Total Number of Articles : 302
Description

SH2 domain containing 1A

Gene Summary

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, Jul 2008]

synonyms
  • SH2 domain-containing protein 1A
  • Duncan disease SH2-protein
  • SLAM associated protein/SH2 domain protein 1A
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Properties