SH2D1B Gene - SH2 Domain Containing 1B
A key adaptor protein in immune cell signaling and lymphocyte activation
Gene Information Card
| Symbol | SH2D1B |
|---|---|
| Full Name | SH2 Domain Containing 1B |
| Gene Type | Protein coding |
| Chromosomal Location | 1q23.1 |
| NCBI Gene ID | 117157 ncbi.nlm.nih.gov/gene/117157 |
| Ensembl ID | ENSG00000198574 |
| UniProt ID | O14796 |
| OMIM ID | 608090 |
| HGNC ID | 16820 |
| Aliases | EAT2, FLJ14886 |
Description
SH2D1B (SH2 Domain Containing 1B) encodes an adaptor protein known as EAT2 (EWS/FLI1 activated transcript 2). It is primarily expressed in hematopoietic cells and functions as a signaling molecule downstream of immune receptors. The protein contains a single SH2 domain and mediates interactions with SLAM family receptors, regulating lymphocyte activation, proliferation, and cytokine production. SH2D1B is involved in natural killer (NK) cell and T cell signaling pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lymphoproliferative disorders | Altered SH2D1B expression may disrupt SLAM receptor signaling, leading to uncontrolled lymphocyte proliferation | PubMed, COSMIC |
| X-linked lymphoproliferative disease (XLP)-like phenotype | Deficiency or mutation in SH2D1B can impair NK cell cytotoxicity and T cell regulation, mimicking XLP | OMIM, ClinVar |
| Hematologic malignancies | Somatic mutations and altered expression of SH2D1B have been reported in leukemia and lymphoma | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.5 | Medium |
| Lymph node | 10.8 | Medium |
| Bone marrow | 8.2 | Low |
| Blood | 6.4 | Low |
| Thymus | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NK-92 (NK cell line) | 15.3 | High expression |
| Jurkat (T cell line) | 9.7 | Moderate expression |
| Raji (B cell line) | 7.1 | Low expression |
| K562 (erythroleukemia) | 2.4 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.148C>T (p.Arg50*) | Nonsense | <0.01% | Premature stop, loss of SH2 domain |
| c.256G>A (p.Gly86Arg) | Missense | <0.01% | Potential disruption of phosphotyrosine binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or loss of SH2 domain impair signaling.
Gain of Function (GOF)
Not reported in literature or curated databases.
Dominant Negative (DN)
Not reported; SH2D1B is not known to form dimers.
View complete mutation data：
Gene Ontology (GO)
| • SH3/SH2 adaptor activity (GO:0005070) | • signal transduction (GO:0007165) |
| • cytoplasm (GO:0005737) | • positive regulation of T cell proliferation (GO:0042102) |
| • positive regulation of natural killer cell mediated cytotoxicity (GO:0045954) |
Pathways
• SLAM family receptor signaling pathway (Reactome: R-HSA-2424491)
• Natural killer cell mediated cytotoxicity (KEGG: hsa04650)
• Adaptive immune system (Reactome: R-HSA-1280218)
Protein Summary
SH2D1B encodes a 132-amino acid protein (EAT2) containing a single Src homology 2 (SH2) domain. It lacks catalytic activity and functions as an adaptor, binding to phosphorylated tyrosine residues on SLAM family receptors (e.g., SLAMF6, SLAMF7). EAT2 recruits downstream effectors such as FYN and PI3K, modulating immune cell activation. The protein is predominantly expressed in hematopoietic tissues and is critical for NK cell cytotoxicity and T cell helper responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SH2D1B Knockout HEK293 Cell Line | EDJ-KQ7596 | Human | 117157 | Details Get a Quote |
| SH2D1B Knockout HeLa Cell Line | EDJ-KQ58005 | Human | 117157 | Details Get a Quote |
| SH2D1B Knockout A-549 Cell Line | EDJ-KQ66493 | Human | 117157 | Details Get a Quote |
| SH2D1B Knockout HCT 116 Cell Line | EDJ-KQ74912 | Human | 117157 | Details Get a Quote |
