Sh2d1a Gene Summary [Mouse]
Predicted to enable protein-macromolecule adaptor activity. Acts upstream of or within humoral immune response and positive regulation of natural killer cell mediated cytotoxicity. Predicted to be located in cytoplasm. Is expressed in retina. Used to study X-linked lymphoproliferative syndrome 1. Human ortholog(s) of this gene implicated in X-linked lymphoproliferative syndrome 1. Orthologous to human SH2D1A (SH2 domain containing 1A). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Processed Transcript |
| Official Symbol | Sh2d1a |
| Official Name | SH2 domain containing 1A [Source:MGI Symbol;Acc:MGI:1328352] |
| Ensembl ID | ENSMUSG00000005696 |
| Bio databases IDs | |
| Aliases | SH2 domain containing 1A |
| Synonyms | DSHP, EBVS, Gm686, IMD5, LYP, MTCP1, RGD1562408, SAP, SAP/SH2D1A, SH2 domain containing 1A, SLAM, XLP, XLPD, XLPD1 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Sh2d1a often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein binding activity, bridging
- Src homology 2 (SH2) domain
- protein binding
- phosphotyrosine binding domain
Pathways
Biological processes and signaling networks where the Sh2d1a gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- systemic lupus erythematosus
- neoplasia
- insulin-dependent diabetes mellitus
- X-linked lymphoproliferative syndrome
- X-linked lymphoproliferative syndrome type 1
- diabetic nephropathy
- androgenic alopecia
- chronic inflammation
- autoinflammatory disorder
- infection
role in cell
- phosphorylation in
- expression in
- production in
- proliferation
- differentiation
- quantity
- number
- binding
- activation in
- binding in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- intracellular space
- Plasma Membrane
- cell-cell contacts
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Sh2d1a gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cellular defense response
- negative regulation of T cell receptor signaling pathway
- humoral immune response
- cell-cell signaling
- adaptive immune response
- natural killer cell mediated cytotoxicity
- regulation of immune response
- positive regulation of natural killer cell mediated cytotoxicity
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- cytosol
Molecular Function
What the gene product does at the molecular level
- protein binding