CD200
Chr 3CD200 molecule
Also known as: MOX1, MOX2, MRC, OX-2
The CD200 protein is a type I membrane glycoprotein that costimulates T-cell proliferation and regulates myeloid cell activity across various tissues. Mutations cause early-onset immunodeficiency with recurrent infections, growth retardation, and developmental delays with autosomal recessive inheritance. The gene is highly constrained against loss-of-function variants (LOEUF 0.56), indicating that complete loss of function is likely pathogenic.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CD200 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools