MRC2
Chr 17mannose receptor C-type 2
Also known as: CD280, CLEC13E, ENDO180, UPARAP
The protein functions as an endocytotic lectin receptor that internalizes glycosylated ligands and mediates extracellular matrix remodeling through uptake and degradation of collagen matrices via clathrin-mediated endocytosis. No specific pediatric neurogenetic diseases or inheritance patterns associated with MRC2 mutations are documented in the provided information. The protein may regulate protease activity at the cell surface and participate in extracellular matrix remodeling in cooperation with matrix metalloproteinases.
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
135 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 9 | 0 | 9 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 87 | 1 | 0 | 88 |
Likely Benign | 0 | 2 | 1 | 0 | 3 |
Benign | 0 | 1 | 1 | 0 | 2 |
| Total | 0 | 90 | 15 | 0 | 105 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MRC2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools