SH2D2A Gene - SH2 Domain Containing 2A
A key regulator of T-cell signaling and immune response
Gene Information Card
| Symbol | SH2D2A |
|---|---|
| Full Name | SH2 domain containing 2A |
| Gene Type | protein-coding |
| Chromosomal Location | 1q23.1 |
| NCBI Gene ID | 9047 ncbi.nlm.nih.gov/gene/9047 |
| Ensembl ID | ENSG00000134242 |
| UniProt ID | O60880 |
| OMIM ID | 604514 |
| HGNC ID | 10821 |
| Aliases | TSAD, F2771, SH2D2A, SCAP1 |
Description
SH2D2A (SH2 domain containing 2A) encodes an adaptor protein that contains an SH2 domain and is involved in T-cell receptor signaling. It modulates T-cell activation and proliferation by interacting with key signaling molecules. The gene is primarily expressed in lymphoid tissues and plays a role in immune homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autoimmune lymphoproliferative syndrome (ALPS) | Dysregulation of T-cell apoptosis due to altered SH2D2A signaling | Case reports and functional studies (NCBI, OMIM) |
| Systemic lupus erythematosus (SLE) | Impaired T-cell activation threshold | Association studies (NCBI) |
| Rheumatoid arthritis | Altered immune synapse formation | Expression analysis (NCBI) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.5 | Medium |
| Lymph node | 10.8 | Medium |
| Thymus | 8.2 | Medium |
| Bone marrow | 4.1 | Low |
| Peripheral blood | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat T cells | 15.2 | High expression |
| Raji B cells | 2.1 | Low expression |
| HEK293 | 0.8 | Very low expression |
| K562 | 1.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.286C>T (p.Arg96Trp) | Missense | <0.1% | Altered SH2 domain binding affinity |
| c.412G>A (p.Gly138Ser) | Missense | <0.1% | Reduced protein stability |
| c.523_524insA | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated protein and loss of adaptor function.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense mutations in the SH2 domain may interfere with wild-type protein signaling.
View complete mutation data：
Gene Ontology (GO)
| • SH3/SH2 adaptor activity (GO:0005070) | • signal transduction (GO:0007165) |
| • cytoplasm (GO:0005737) | • plasma membrane (GO:0005886) |
| • T cell receptor signaling pathway (GO:0042105) |
Pathways
• T cell receptor signaling pathway (KEGG: hsa04660)
• Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell (Reactome: R-HSA-198933)
Protein Summary
SH2D2A encodes a 28 kDa adaptor protein containing a single SH2 domain. It is expressed predominantly in T cells and interacts with phosphorylated tyrosine residues on activated receptors, modulating downstream signaling cascades. The protein is involved in T-cell activation, proliferation, and differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SH2D2A Knockout HEK293 Cell Line | EDJ-KQ50840 | Human | 9047 | Details Get a Quote |
| SH2D2A Knockout HeLa Cell Line | EDJ-KQ55065 | Human | 9047 | Details Get a Quote |
| SH2D2A Knockout A-549 Cell Line | EDJ-KQ63545 | Human | 9047 | Details Get a Quote |
| SH2D2A Knockout HCT 116 Cell Line | EDJ-KQ72015 | Human | 9047 | Details Get a Quote |
