Symbol: Name: ID: |
SH2D1A SH2 domain containing 1A GFS:735 |
Gene name: | SH2D1A |
Chromosome: | Xq25 |
Previous Symbols: | IMD5, LYP |
Previous Names: | lymphoproliferative syndrome, "SH2 domain protein 1A" |
Aliases: | XLP, MTCP1, DSHP, XLPD, EBVS, SAP |
Name Aliases: | Duncan's disease |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1328352 | Rat Genome Database ID: | RGD:1562408 |
HGNC ID: | HGNC:10820 | RefSeq IDs: | NM_001114937 |
Entrez Gene ID: | 4068 | Ensembl Gene ID: | |
VEGA IDs: | OTTHUMG00000022344 | UniProt ID: | O60880 |
UCSC ID: | uc004euf.3 | OMIM ID: | 300490 |
Pubmed: | PMID9771704 PMID 9774102 | ||
CCDS IDs: | CCDSCCDS14608.1 CCDS CCDS48162.1 |
SH2 domain-containing protein 1A is a protein that in humans is encoded by the SH2D1A gene. It is associated with X-linked lymphoproliferative disease. 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].
Inhibitor of the SLAM self-association. Acts by blocking recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to a docking site in the SLAM cytoplasmic region. Mediates interaction etween FYN and SLAMF1.
Products for SH2D1A gene
Catalog | Product Name | Application | Company |
GFS:E00735 | SH2 domain containing 1A; ELISA kit | ELISA | n/a |
GFS:A00735 | SH2 domain containing 1A; Anti | ANTIBODIES | n/a |
GFS:P00735 | SH2 domain containing 1A; Protien | Protien | n/a |