SH2D1A

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]

Full Name

SH2D1A

Function

Cytoplasmic adapter regulating receptors of the signaling lymphocytic activation molecule (SLAM) family such as SLAMF1, CD244, LY9, CD84, SLAMF6 and SLAMF7. In SLAM signaling seems to cooperate with SH2D1B/EAT-2. Initially it has been proposed that association with SLAMF1 prevents SLAMF1 binding to inhibitory effectors including INPP5D/SHIP1 and PTPN11/SHP-2 (PubMed:11806999).
However, by simultaneous interactions, recruits FYN which subsequently phosphorylates and activates SLAMF1 (PubMed:12458214).
Positively regulates CD244/2B4- and CD84-mediated natural killer (NK) cell functions. Can also promote CD48-, SLAMF6 -, LY9-, and SLAMF7-mediated NK cell activation. In the context of NK cell-mediated cytotoxicity enhances conjugate formation with target cells (By similarity).
May also regulate the activity of the neurotrophin receptors NTRK1, NTRK2 and NTRK3.

Biological Process

Biological Process adaptive immune responseIEA:UniProtKB-KW
Biological Process cell-cell signalingIEA:InterPro
Biological Process cellular defense responseIEA:InterPro
Biological Process humoral immune responseIEA:Ensembl
Biological Process natural killer cell mediated cytotoxicityIEA:Ensembl
Biological Process negative regulation of T cell receptor signaling pathwayManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process positive regulation of natural killer cell mediated cytotoxicityManual Assertion Based On ExperimentIBA:GO_Central
Biological Process regulation of immune responseManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process regulation of signal transductionManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

Cytoplasm

Involvement in disease

Lymphoproliferative syndrome, X-linked, 1 (XLP1):
A rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus (EBV). Symptoms include severe or fatal mononucleosis, acquired hypogammaglobulinemia, pancytopenia and malignant lymphoma.

Anti-SH2D1A antibodies

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Mouse Anti-SH2D1A Recombinant Antibody (9H11) (CBMAB-0899-CN)

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Target: SH2D1A

Host: Mouse

Antibody Isotype: IgG1

Specificity: Human

Clone: 9H11

Application*: E, M

SH2D1A

Anti-SH2D1A antibodies

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