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…

DNmechanismLOEUF 0.56

Clinical Summary— CD200

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.22) despite low pLI — interpret in context.

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ClinVar Variants

23 VUS of 31 total submissions

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Clinical Trials

1 active or recruiting trial — potential therapeutic options may be available

Explore recent and relevant literature in Research Assistant →

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GeneReview available — CD200

Authoritative clinical overview · Recommended first read

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.56LOEUF

pLI 0.414

Z-score 2.70

OE 0.22 (0.10–0.56)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

0.66Z-score

OE missense 0.85 (0.74–0.98)

138 obs / 161.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.22 (0.10–0.56)

0≤0.351.4

Missense OE?0.85 (0.74–0.98)

0≤0.61.4

Synonymous OE?1.01

0≤1.21.6

LoF obs/exp: 3 / 13.9Missense obs/exp: 138 / 161.4Syn Z: -0.08

This gene — mechanism propensity

0.6455th %ile

GOF

0.6053th %ile

LOF

0.3550th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

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

31 submitted variants in ClinVar

ClinVar

Classification Summary

VUS23

Likely Benign3

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	23	23
Likely Benign	3	3
Benign	0	0
Total	26	26

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

18 pathogenic / likely-pathogenic (of 23) ClinVar copy-number / structural variants overlap CD200 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →