COLEC12
Chr 18collectin subfamily member 12
Also known as: CLP1, NSR2, SCARA4, SRCL
COLEC12 encodes a scavenger receptor protein that binds carbohydrates on microorganisms to facilitate their recognition and removal, and also mediates recognition and degradation of oxidatively modified lipoproteins by vascular endothelial cells. Mutations cause 3MC syndrome, a rare autosomal recessive disorder characterized by craniofacial dysmorphism, cleft palate, and intellectual disability. The gene is highly constrained against loss-of-function mutations, indicating intolerance to protein disruption.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
264 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 | 120 | 0 | 120 |
Likely Pathogenic | 0 | 0 | 4 | 0 | 4 |
VUS | 0 | 86 | 30 | 0 | 116 |
Likely Benign | 0 | 5 | 3 | 2 | 10 |
Benign | 0 | 1 | 4 | 1 | 6 |
| Total | 0 | 92 | 161 | 3 | 256 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
COLEC12 · 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