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.

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 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
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