SLAMF8
SLAM Family Member 8: A Key Immune Receptor in Inflammatory and Hematological Disorders
Gene Information Card
| Symbol | SLAMF8 |
|---|---|
| Full Name | SLAM family member 8 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q23.2 |
| NCBI Gene ID | 56833 ncbi.nlm.nih.gov/gene/56833 |
| Ensembl ID | ENSG00000158714 |
| UniProt ID | Q9P0V8 |
| OMIM ID | 606620 |
| HGNC ID | 17004 |
| Aliases | CD353, BLAME, SBBI42 |
Description
SLAMF8 (SLAM family member 8), also known as CD353, is a protein-coding gene located on chromosome 1q23.2. It encodes a type I transmembrane protein belonging to the signaling lymphocytic activation molecule (SLAM) family, which is involved in immune cell regulation. SLAMF8 is expressed predominantly on hematopoietic cells and plays a role in modulating inflammatory responses, particularly in macrophages and neutrophils. Its expression is upregulated in various inflammatory conditions and certain hematological malignancies. The gene has been implicated in autoimmune diseases and cancer through its effects on immune cell signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rheumatoid arthritis | SLAMF8 overexpression in synovial macrophages promotes pro-inflammatory cytokine production (e.g., TNF-α, IL-6) via NF-κB pathway activation. | PMID: 25605269 |
| Systemic lupus erythematosus | Increased SLAMF8 expression on B cells and monocytes correlates with disease activity and autoantibody production. | PMID: 23776199 |
| Acute myeloid leukemia | SLAMF8 is aberrantly expressed on leukemic stem cells and may contribute to immune evasion. | PMID: 29242212 |
| Colorectal cancer | SLAMF8 expression in tumor-associated macrophages is associated with poor prognosis and immune suppression. | PMID: 31570863 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.5 | Medium |
| Lymph node | 10.8 | Medium |
| Bone marrow | 8.3 | Low |
| Lung | 3.2 | Low |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocytic leukemia) | 15.2 | High expression; upregulated upon LPS stimulation |
| U937 (histiocytic lymphoma) | 11.0 | Moderate expression |
| K562 (chronic myeloid leukemia) | 2.1 | Low expression |
| HEK293 (embryonic kidney) | 0.5 | Not detected |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | <0.01% (gnomAD) | Unknown; predicted benign by SIFT |
| c.512A>G (p.Asn171Ser) | Missense | <0.01% (gnomAD) | Unknown; predicted possibly damaging by PolyPhen-2 |
| c.1A>G (p.Met1Val) | Start loss | <0.01% (gnomAD) | Likely loss of function; no protein product |
Mutation functional classification
Loss of Function (LOF)
Start-loss variant (p.Met1Val) likely abolishes translation; no functional protein.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in literature or databases.
Dominant Negative (DN)
No dominant-negative mutations described for SLAMF8.
View complete mutation data:
Gene Ontology (GO)
Pathways
• SLAM family signaling pathway (Reactome: R-HSA-2424491)
• NF-kappa B signaling pathway (KEGG: hsa04064)
• Toll-like receptor signaling pathway (KEGG: hsa04620)
Protein Summary
SLAMF8 (CD353) is a 285-amino-acid type I transmembrane glycoprotein with a single extracellular Ig-like domain and a cytoplasmic tail containing immunoreceptor tyrosine-based switch motifs (ITSMs). It is primarily expressed on hematopoietic cells, including macrophages, neutrophils, and B cells. SLAMF8 functions as a co-receptor modulating immune cell activation, often promoting pro-inflammatory responses. Its expression is induced by inflammatory stimuli such as LPS and IFN-γ. The protein interacts with adaptor molecules like SAP and EAT-2 to transduce signals. SLAMF8 has been implicated in the pathogenesis of autoimmune diseases (e.g., rheumatoid arthritis, SLE) and hematological malignancies (e.g., AML).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLAMF8 Knockout HEK293 Cell Line | EDJ-KQ15276 | Human | 56833 | Details Get a Quote |
| SLAMF8 Knockout HeLa Cell Line | EDJ-KQ56755 | Human | 56833 | Details Get a Quote |
| SLAMF8 Knockout A-549 Cell Line | EDJ-KQ65259 | Human | 56833 | Details Get a Quote |
| SLAMF8 Knockout HCT 116 Cell Line | EDJ-KQ73700 | Human | 56833 | Details Get a Quote |