CD200

Chr 3

CD200 molecule

Also known as: MOX1, MOX2, MRC, OX-2

NCBI Gene: 4345 ENSG00000091972 UniProt: P41217 OMIM: 155970

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.

GeneReviews OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a type I membrane glycoprotein containing two extracellular immunoglobulin domains, a transmembrane and a cytoplasmic domain. This gene is expressed by various cell types, including B cells, a subset of T cells, thymocytes, endothelial cells, and neurons. The encoded protein plays an important role in immunosuppression and regulation of anti-tumor activity. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

GeneReviews OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

135

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.56

LOEUF

Mechanism· predicted

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GeneReview available — CD200