HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CD244
CD244 molecule
Chromosome 1 · 1q23.3
NCBI Gene: 51744Ensembl: ENSG00000122223.14HGNC: HGNC:18171UniProt: Q9BZW8
122PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Receptor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingsignaling receptor activityMHC class I protein bindingnatural killer cell activation involved in immune responseCrohn's diseaserheumatoid arthritisprostate cancerFamilial prostate cancer
✦AI Summary

CD244 (2B4) is a dual-function immune receptor in the SLAM family that binds CD48 and regulates both innate and adaptive immunity. The receptor exhibits context-dependent activating or inhibitory functions based on adapter protein availability, particularly SAP (SH2D1A) 1. When SAP is present, CD244 activates NK cells and promotes cytotoxicity and IFN-γ production, while SAP absence leads to inhibitory signaling through phosphatases like SHP-1 and SHIP 2. CD244 is expressed on NK cells, T cells, monocytes, dendritic cells, and other immune cells, serving as a systems-level integrator of immune homeostasis 1. In cancer, CD244 has complex roles: it can promote T cell exhaustion when upregulated by TOX in tumor-infiltrating lymphocytes 3, but CD244-deficient macrophages show enhanced anti-tumor activity and improved antigen presentation 4. CD244 expression is altered in autoimmune diseases like systemic lupus erythematosus and serves as a potential therapeutic target in multiple myeloma 5. The receptor also distinguishes circulating NK-like iNKT cell subsets that mediate antitumor immunity 6. These diverse functions make CD244 a promising target for precision immunotherapy across infections, cancer, and autoimmune conditions 7.

Sources cited
1
CD244 functions as context-dependent activating/inhibitory receptor and serves as systems-level integrator of immune homeostasis
PMID: 41070200
2
SAP presence determines CD244 activating vs inhibitory function through different signaling pathways
PMID: 16621032
3
CD244 upregulation by TOX promotes T cell exhaustion in tumors
PMID: 31207604
4
CD244-deficient macrophages show enhanced anti-tumor activity and antigen presentation
PMID: 38424542
5
CD244 expression altered in SLE and serves as therapeutic target in multiple myeloma
PMID: 30347240
6
CD244 distinguishes circulating NK-like iNKT cell subsets with antitumor functions
PMID: 36269840
7
CD244 has potential as therapeutic target across various immune-related diseases
PMID: 33841431
Disease Associationsⓘ20
Crohn's diseaseOpen Targets
0.30Weak
rheumatoid arthritisOpen Targets
0.19Weak
prostate cancerOpen Targets
0.11Weak
Familial prostate cancerOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
tropical spastic paraparesisOpen Targets
0.09Suggestive
acute myeloid leukemiaOpen Targets
0.09Suggestive
leukemiaOpen Targets
0.08Suggestive
melanomaOpen Targets
0.08Suggestive
Townes-Brocks syndromeOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
activated PI3K-delta syndromeOpen Targets
0.07Suggestive
toxoplasmosisOpen Targets
0.07Suggestive
Chronic mucocutaneous candidosisOpen Targets
0.07Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.07Suggestive
systemic lupus erythematosusOpen Targets
0.06Suggestive
head and neck squamous cell carcinomaOpen Targets
0.06Suggestive
Wiskott-Aldrich syndromeOpen Targets
0.05Suggestive
acute lymphoblastic leukemiaOpen Targets
0.05Suggestive
hyper-IgM syndrome type 3Open Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SH2D1BProtein interaction99%FYNProtein interaction98%PTPN11Protein interaction98%CD8AProtein interaction95%HAVCR2Protein interaction92%SH2D1AProtein interaction85%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
23%
Liver
19%
Ovary
9%
Heart
6%
Brain
1%
Gene Interaction Network
Click a node to explore
CD244SH2D1BFYNPTPN11CD8AHAVCR2SH2D1A
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9BZW8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.50Moderately Constrained
pLIⓘ
0.98Intolerant
Observed/Expected LoF0.30 [0.18–0.50]
RankingsWhere CD244 stands among ~20K protein-coding genes
  • #3,846of 20,598
    Most Researched122 · top quartile
  • #3,006of 17,882
    Most Constrained (LOEUF)0.50 · top quartile
Genes detectedCD244
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
TOX is a critical regulator of tumour-specific T cell differentiation.
PMID: 31207604
Nature · 2019
1.00
2
Targeted deletion of CD244 on monocytes promotes differentiation into anti-tumorigenic macrophages and potentiates PD-L1 blockade in melanoma.
PMID: 38424542
Mol Cancer · 2024
0.90
3
Single-cell transcriptomic analysis of the immune microenvironment in pediatric acute leukemia.
PMID: 38844062
Cancer Lett · 2024
0.80
4
Of mice and men: different functions of the murine and human 2B4 (CD244) receptor on NK cells.
PMID: 16621032
Immunol Lett · 2006
0.70
5
2B4 (CD244, SLAMF4) and CS1 (CD319, SLAMF7) in systemic lupus erythematosus and cancer.
PMID: 30347240
Clin Immunol · 2019
0.60