CD200R1: CD200 Receptor 1
An immune checkpoint receptor involved in myeloid cell regulation and potential therapeutic target in cancer and autoimmune diseases.
Gene Information Card
| Symbol | CD200R1 |
|---|---|
| Full Name | CD200 receptor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q13.2 |
| NCBI Gene ID | 131450 ncbi.nlm.nih.gov/gene/131450 |
| Ensembl ID | ENSG00000163661 |
| UniProt ID | Q8TD46 |
| OMIM ID | 607546 |
| HGNC ID | 16979 |
| Aliases | CD200R, CRTR2, MOX2R, OX2R |
Description
CD200R1 (CD200 receptor 1) is a transmembrane glycoprotein receptor expressed primarily on myeloid cells (macrophages, dendritic cells, microglia) and certain T cell subsets. It binds to its ligand CD200 (OX2) to deliver inhibitory signals that suppress immune activation, promoting immune tolerance and preventing excessive inflammation. CD200R1 plays a critical role in maintaining immune homeostasis and is implicated in cancer immune evasion, autoimmune diseases, and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | CD200-CD200R1 interaction suppresses anti-tumor immune responses; overexpression of CD200 on tumor cells inhibits macrophage and T cell activity. | ClinVar, COSMIC, PMID: 22949634 |
| Rheumatoid arthritis | Reduced CD200R1 expression on synovial macrophages leads to loss of inhibitory signaling and chronic inflammation. | PMID: 17913838 |
| Alzheimer's disease | CD200R1 downregulation on microglia impairs inhibitory signaling, contributing to neuroinflammation. | PMID: 22431557 |
| Multiple sclerosis | Altered CD200-CD200R1 axis in CNS promotes demyelination and immune cell infiltration. | PMID: 17360720 |
| Systemic lupus erythematosus | Dysregulated CD200R1 expression on monocytes correlates with disease activity. | PMID: 23300296 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Lung | 6.5 | Medium |
| Spleen | 12.1 | High |
| Lymph node | 10.8 | High |
| Bone marrow | 9.4 | Medium |
| Blood | 7.3 | Medium |
| Liver | 3.1 | Low |
| Kidney | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 15.2 | High expression |
| U937 (macrophage) | 12.8 | High expression |
| HMC3 (microglia) | 11.5 | High expression |
| Jurkat (T cell) | 2.1 | Low expression |
| HEK293 (embryonic kidney) | 0.5 | Very low expression |
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 functional effect; rare variant |
| c.682G>A (p.Gly228Arg) | Missense | <0.01% (gnomAD) | Potential impact on ligand binding; not validated |
| c.1003C>T (p.Arg335Trp) | Missense | <0.01% (gnomAD) | Located in cytoplasmic domain; may affect signaling |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in CD200R1. Experimental knockdown reduces inhibitory signaling.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• CD200-CD200R signaling (Reactome: R-HSA-2134201)
• Immune regulatory interactions between a Lymphoid and a non-Lymphoid cell (Reactome: R-HSA-198933)
• Innate Immune System (Reactome: R-HSA-168249)
Protein Summary
CD200R1 is a 325-amino acid type I transmembrane protein with two immunoglobulin-like domains in its extracellular region. The cytoplasmic tail contains three tyrosine residues that, upon ligand binding, recruit adaptor proteins such as Dok2 and RasGAP, leading to inhibition of MAPK and PI3K signaling pathways. This inhibitory signaling dampens myeloid cell activation, cytokine production, and phagocytosis. CD200R1 is highly conserved across mammals and is a key regulator of immune tolerance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CD200R1 Knockout HEK293 Cell Line | EDJ-KQ9269 | Human | 131450 | Details Get a Quote |
| CD200R1L Knockout HEK293 Cell Line | EDJ-KQ12829 | Human | 344807 | Details Get a Quote |
| CD200R1 Knockout HeLa Cell Line | EDJ-KQ58297 | Human | 131450 | Details Get a Quote |
| CD200R1L Knockout HeLa Cell Line | EDJ-KQ59778 | Human | 344807 | Details Get a Quote |
| CD200R1 Knockout A-549 Cell Line | EDJ-KQ66785 | Human | 131450 | Details Get a Quote |
| CD200R1L Knockout A-549 Cell Line | EDJ-KQ68247 | Human | 344807 | Details Get a Quote |
| CD200R1 Knockout HCT 116 Cell Line | EDJ-KQ75188 | Human | 131450 | Details Get a Quote |
| CD200R1L Knockout HCT 116 Cell Line | EDJ-KQ76623 | Human | 344807 | Details Get a Quote |
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