MRC1

Chr 10

mannose receptor C-type 1

Also known as: CD206, CLEC13D, CLEC13DL, MMR, MRC1L1, bA541I19.1, hMR

NCBI Gene: 4360ENSG00000260314UniProt: P22897

The recognition of complex carbohydrate structures on glycoproteins is an important part of several biological processes, including cell-cell recognition, serum glycoprotein turnover, and neutralization of pathogens. The protein encoded by this gene is a type I membrane receptor that mediates the endocytosis of glycoproteins by macrophages. The protein has been shown to bind high-mannose structures on the surface of potentially pathogenic viruses, bacteria, and fungi so that they can be neutralized by phagocytic engulfment.[provided by RefSeq, Sep 2015]

0
Active trials
4
Pathogenic / LP
11
ClinVar variants
5
Pubs (1 yr)
2.0
Missense Z
0.35
LOEUF
Clinical Summary— MRC1
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.94). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
4 Pathogenic / Likely Pathogenic of 11 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.35LOEUF
pLI 0.943
Z-score 3.48
OE 0.11 (0.04–0.35)
Highly constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.95Z-score
OE missense 0.56 (0.47–0.67)
90 obs / 159.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.11 (0.04–0.35)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.56 (0.47–0.67)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.67
0≤1.21.6
LoF obs/exp: 2 / 17.9Missense obs/exp: 90 / 159.4Syn Z: 2.06

ClinVar Variant Classifications

11 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic4
Likely Benign4
Benign2
Conflicting1
4
Pathogenic
4
Likely Benign
2
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
4
0
4
Likely Pathogenic
0
0
0
0
0
VUS
0
0
0
0
0
Likely Benign
0
0
2
2
4
Benign
0
0
2
0
2
Conflicting
—1
Total008211

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

View in ClinVar →

Protein Context — Lollipop Plot

MRC1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Photodynamic therapy with a novel photosensitizer inhibits BLM-induced pulmonary fibrosis in mice via MRC1-mediated pathway.
Zhu M et al.·Front Pharmacol
2025Open Access
The border-associated macrophage marker MRC1 contributes to an early neuroprotective inflammatory response to traumatic brain injury in mice.
Strehle J et al.·Acta Neuropathol Commun
2025Open Access
Cutaneous Juvenile Xanthogranuloma With MRC1::PDGFRB Gene Fusion: A Case Report.
Labib A et al.·Pediatr Dermatol
2026Case report
Mrc1 (MMR, CD206) controls the blood proteome in reducing inflammation, age-associated organ dysfunction and mortality in sepsis.
Restagno D et al.·Nat Commun
2025Open Access
Alginate oligosaccharide prevents renal ischemia-reperfusion injury in rats via MRC1-mediated pathway.
Liang BE et al.·Acta Pharmacol Sin
2025
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients