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Western Blot

Entrez GeneID

GeneBank Accession#

Protein Accession#

Gene Name

SH2D1A

Gene Alias

DSHP, EBVS, FLJ18687, FLJ92177, IMD5, LYP, MTCP1, SAP, XLP, XLPD

Gene Description

SH2 domain protein 1A

Omim ID

Gene Ontology

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

Other Designations

Duncan's disease|OTTHUMP00000023976|SLAM-associated protein|T cell signal transduction molecule SAP|signaling lymphocyte activation molecule-associated protein