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.

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 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
Displaying Records 1 To 5 Of 5 Records
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