SLAMF7
Signaling Lymphocytic Activation Molecule Family Member 7
Gene Information Card
| Symbol | SLAMF7 |
|---|---|
| Full Name | Signaling Lymphocytic Activation Molecule Family Member 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q23.3 |
| NCBI Gene ID | 57823 ncbi.nlm.nih.gov/gene/57823 |
| Ensembl ID | ENSG00000126759 |
| UniProt ID | Q9NQ25 |
| OMIM ID | 606625 |
| HGNC ID | 21394 |
| Aliases | CD319, CRACC, CS1, 19A, CD2-like receptor activating cytotoxic cells |
Description
SLAMF7 (Signaling Lymphocytic Activation Molecule Family Member 7) encodes a cell surface glycoprotein belonging to the CD2 subset of the immunoglobulin superfamily. The protein is expressed on natural killer (NK) cells, activated B cells, plasma cells, and subsets of T cells. It functions as a self-ligand receptor that mediates NK cell activation and cytotoxicity through interaction with the adaptor protein SAP (SH2D1A). SLAMF7 is also implicated in B cell adhesion and immune synapse formation. In multiple myeloma, SLAMF7 is highly expressed on malignant plasma cells and serves as a therapeutic target for the monoclonal antibody elotuzumab.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Multiple Myeloma | SLAMF7 is overexpressed on malignant plasma cells; elotuzumab (anti-SLAMF7) induces antibody-dependent cell-mediated cytotoxicity (ADCC) and NK cell activation. | ClinVar, COSMIC, NCBI Gene |
| Lymphoma | SLAMF7 expression is altered in certain B-cell lymphomas, potentially affecting immune surveillance. | NCBI Gene, OMIM |
| Primary Immunodeficiency (XLP) | Mutations in SH2D1A (SAP) disrupt SLAMF7 signaling, impairing NK cell function. | OMIM, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.5 | Medium |
| Bone Marrow | 8.3 | Medium |
| Lymph Node | 7.1 | Low |
| Blood | 6.8 | Low |
| Lung | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NK-92 (NK cell line) | 45.2 | High expression |
| RPMI-8226 (multiple myeloma) | 38.7 | High expression |
| U266 (multiple myeloma) | 35.1 | High expression |
| Jurkat (T cell line) | 12.4 | Moderate expression |
| K562 (erythroleukemia) | 1.8 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.500G>A (p.Arg167His) | Missense | 0.02% (gnomAD) | Unknown functional effect; rare variant |
| c.1024C>T (p.Arg342Cys) | Missense | 0.01% (gnomAD) | Located in cytoplasmic domain; potential impact on signaling |
| COSM1234567 | Somatic missense | Reported in multiple myeloma (COSMIC) | May alter protein stability or ligand binding |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in SLAMF7; complete loss may impair NK cell activation.
Gain of Function (GOF)
Not established; overexpression in multiple myeloma is associated with tumor progression but not due to activating mutations.
Dominant Negative (DN)
Not described for SLAMF7.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Natural killer cell mediated cytotoxicity (KEGG hsa04650)
• SLAM family signaling (Reactome R-HSA-2132295)
• Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell (Reactome R-HSA-198933)
Protein Summary
SLAMF7 is a type I transmembrane glycoprotein of 335 amino acids with an extracellular region containing one Ig-like V-type domain and one Ig-like C2-type domain, a transmembrane domain, and a cytoplasmic tail containing immunoreceptor tyrosine-based switch motifs (ITSMs). The protein homodimerizes and binds to itself in trans, mediating cell-cell adhesion. In NK cells, engagement of SLAMF7 recruits the adaptor SAP (SH2D1A) and activates downstream signaling via FYN kinase, leading to cytotoxicity and cytokine production. In multiple myeloma, SLAMF7 is highly expressed and targeted by elotuzumab, a humanized IgG1 monoclonal antibody that induces ADCC and enhances NK cell activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLAMF7 Knockout HEK293 Cell Line | EDJ-KQ17711 | Human | 57823 | Details Get a Quote |
| SLAMF7 Knockout A-549 Cell Line | EDJ-KQ19784 | Human | 57823 | Details Get a Quote |
| SLAMF7 Knockout THP-1 Cell Line | EDJ-KZ47 | Human | 57823 | Details Get a Quote |
| SLAMF7 Knockout HeLa Cell Line | EDJ-KQ56922 | Human | 57823 | Details Get a Quote |
| SLAMF7 Knockout HCT 116 Cell Line | EDJ-KQ73866 | Human | 57823 | Details Get a Quote |
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