SLAMF9: Signaling Lymphocytic Activation Molecule Family Member 9
A transmembrane immune receptor with emerging roles in myeloid cell regulation and cancer immunity
Gene Information Card
| Symbol | SLAMF9 |
|---|---|
| Full Name | SLAM family member 9 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q23.3 |
| NCBI Gene ID | 89886 ncbi.nlm.nih.gov/gene/89886 |
| Ensembl ID | ENSG00000162723 |
| UniProt ID | Q96A28 |
| OMIM ID | 607867 |
| HGNC ID | 21314 |
| Aliases | CD2F-10, CD2F10, SF2001 |
Description
SLAMF9 (Signaling Lymphocytic Activation Molecule Family Member 9) is a type I transmembrane protein belonging to the CD2/SLAM family of immune receptors. It is characterized by an extracellular immunoglobulin-like domain and a cytoplasmic tail lacking classical signaling motifs. SLAMF9 is primarily expressed on myeloid cells, including monocytes, macrophages, and dendritic cells, and has been implicated in the regulation of inflammatory responses and tumor immunity. Unlike other SLAM family members, SLAMF9 does not bind SAP (SLAM-associated protein) and may signal through alternative pathways. Recent studies suggest a role in modulating cytokine production and phagocytosis, with potential implications in infectious diseases and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (pan-cancer) | SLAMF9 expression is altered in various tumors; may modulate tumor-associated macrophage (TAM) function and immune evasion. | COSMIC and literature (e.g., PMID: 31578313) show differential expression and copy number alterations. |
| Inflammatory diseases | SLAMF9 may regulate pro-inflammatory cytokine production in myeloid cells, influencing conditions like sepsis or autoimmune inflammation. | Preclinical studies (e.g., PMID: 26631558) demonstrate SLAMF9 knockout reduces inflammatory responses. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Blood | 8.2 | Low |
| Spleen | 5.1 | Low |
| Bone Marrow | 4.3 | Low |
| Lung | 2.0 | Not detected |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Monocytes | 12.5 | Primary cells |
| Macrophages | 10.3 | Differentiated from monocytes |
| Dendritic cells | 9.8 | Myeloid DCs |
| THP-1 (monocytic leukemia) | 8.7 | Cell line |
| Jurkat (T-cell leukemia) | 0.2 | Negative control |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.421A>G (p.Thr141Ala) | Missense | 0.01% (gnomAD) | Unknown; predicted benign |
| c.532C>T (p.Arg178Trp) | Missense | 0.005% (gnomAD) | Unknown; predicted damaging by in silico tools |
| c.789_790insA (frameshift) | Insertion | Rare | Loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Frameshift or nonsense mutations leading to truncated protein lacking transmembrane domain; associated with reduced immune regulation.
Gain of Function (GOF)
No clear gain-of-function mutations reported; some missense variants may alter ligand binding but not confirmed.
Dominant Negative (DN)
Not documented; SLAMF9 likely functions as a homodimer, but no dominant-negative evidence.
View complete mutation data:
Gene Ontology (GO)
| • plasma membrane (GO:0005886) | • protein binding (GO:0005515) |
| • cell surface receptor signaling pathway (GO:0007166) | • immune system process (GO:0002376) |
| • inflammatory response (GO:0006954) |
Pathways
• Immune system (Reactome: R-HSA-168256)
• Innate Immune System (Reactome: R-HSA-168249)
• Cytokine signaling in immune system (Reactome: R-HSA-1280215)
Protein Summary
SLAMF9 is a 299-amino acid type I membrane protein with a single extracellular Ig-like V-type domain, a transmembrane region, and a short cytoplasmic tail. It lacks the immunoreceptor tyrosine-based switch motifs (ITSMs) typical of other SLAM family members, suggesting distinct signaling. The protein is glycosylated and may form homodimers. SLAMF9 is expressed on myeloid cells and is upregulated upon activation. It interacts with unknown ligands and may modulate TLR signaling, influencing cytokine secretion and phagocytosis. Structural studies are limited; however, its extracellular domain shares homology with other SLAM receptors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLAMF9 Knockout HEK293 Cell Line | EDJ-KQ1754 | Human | 89886 | Details Get a Quote |
| SLAMF9 Knockout A-549 Cell Line | EDJ-KQ22946 | Human | 89886 | Details Get a Quote |
| SLAMF9 Knockout HeLa Cell Line | EDJ-KQ57751 | Human | 89886 | Details Get a Quote |
| SLAMF9 Knockout HCT 116 Cell Line | EDJ-KQ74667 | Human | 89886 | Details Get a Quote |
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