Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Sh2d1a. (This text reflects annotations as of Wednesday, January 23, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Sh2d1a
  • participates in the following biological processes:
    • humoral immune response ^[1]
    • positive regulation of natural killer cell mediated cytotoxicity ^[2]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Sh2d1a:
  • participates in the following biological processes:
    • cell-cell signaling
  • is located in the following cellular components:
    • cytoplasm

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Summary text based on GO annotations supported by structural data

• Sh2d1a encodes a protein or proteins that contain the following InterPro domains: SH2 domain, SH2 protein 1A, indicating that the gene product:
  • participates in the following biological processes:
    • cellular defense response
  • performs the following molecular functions:
    • SH3/SH2 adaptor activity

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References

1. Crotty S et al. (2003) SAP is required for generating long-term humoral immunity. Nature, 421:282-7. (PubMed:12529646)
2. Roncagalli R et al. (2005) Negative regulation of natural killer cell function by EAT-2, a SAP-related adaptor. Nat Immunol, 6:1002-10. (PubMed:16127454)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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