Protein Dossier — MBL2 (Mannose-binding protein C)
MR feasibility tier: A — Published pQTL-MR estimates exist for this protein (retrieved below - not computed here).
1. Published MR estimates (retrieved, not computed)
| Outcome |
beta |
se |
p |
method |
nSNP |
cis/trans |
coloc |
| Heel bone mineral density (BMD) T-score automated |
0.019 |
0.00346 |
3.88e-08 |
Wald ratio |
1 |
cis |
4.07e-135 |
| Body mass index (BMI) |
-0.00934 |
0.00268 |
4.80e-04 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: retinal detachment |
0.115 |
0.0416 |
0.00562 |
Wald ratio |
1 |
cis |
NA |
| ER-negative Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) |
0.0323 |
0.0126 |
0.0101 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: N20 Calculus of kidney and ureter |
0.0756 |
0.0296 |
0.0105 |
Wald ratio |
1 |
cis |
NA |
| Fractured bone site(s): Wrist |
-0.0488 |
0.0201 |
0.0149 |
Wald ratio |
1 |
cis |
NA |
| Fractured or broken bones in last 5 years |
-0.0204 |
0.00852 |
0.0165 |
Wald ratio |
1 |
cis |
NA |
| Alcohol intake frequency |
-0.00915 |
0.00396 |
0.0208 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: M54 Dorsalgia |
0.0449 |
0.0199 |
0.0237 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: pulmonary embolism (with or without) dvt |
0.0626 |
0.0279 |
0.0247 |
Wald ratio |
1 |
cis |
NA |
| Weight |
-0.00519 |
0.00236 |
0.0281 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: kidney stone or ureter stone or bladder stone |
0.061 |
0.0285 |
0.0319 |
Wald ratio |
1 |
cis |
NA |
| …and 103 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3000_66_1 |
MBL |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
86 association rows across 33 traits (79 genome-wide significant rows). Associations are loci, not causal claims; the mapped gene at a locus is not necessarily the effector gene.
| Trait |
best p |
lead SNP |
n assoc |
study |
MR status |
| Mannose-binding protein C levels |
3e-1289 |
rs7899547 |
19 |
GCST90248506 |
no MR -> candidate analysis |
| Mannose-binding protein C levels (MBL2.3000.66.1) |
9e-479 |
rs7899547 |
3 |
GCST90241872 |
no MR -> candidate analysis |
| Blood protein levels |
3e-361 |
rs7899547 |
1 |
GCST006585 |
no MR -> candidate analysis |
| Serum levels of protein MBL2 |
3e-293 |
rs1800450 |
4 |
GCST90088178 |
no MR -> candidate analysis |
| MBL2 protein levels |
2e-274 |
rs17664818 |
26 |
GCST90469868 |
no MR -> candidate analysis |
| MBL2 protein level (protein group normalized intensity) |
1e-104 |
rs7899547 |
1 |
GCST90570722 |
no MR -> candidate analysis |
| Circulating MASP1 levels |
1e-102 |
rs7899547 |
3 |
GCST90860240 |
no MR -> candidate analysis |
| MASP1 protein levels |
2e-100 |
rs11003131 |
3 |
GCST90469863 |
no MR -> candidate analysis |
| Calcipressin-3 levels |
2e-83 |
rs2165811 |
1 |
GCST90423746 |
no MR -> candidate analysis |
| Mannose-binding protein C level in Chronic kidney disease wi |
1e-69 |
rs1800451 |
1 |
GCST90237191 |
no MR -> candidate analysis |
| ADGRV1 protein levels |
5e-63 |
rs1800450 |
1 |
GCST90468242 |
no MR -> candidate analysis |
| Protein quantitative trait loci |
3e-59 |
rs2384046 |
1 |
GCST010900 |
no MR -> candidate analysis |
| …and 21 more traits (see JSON) |
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4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 840 total). Associations are loci, not causal claims. The causal-status column is a four-state triage per pair: established (curated) = a curated clinical assertion exists (ClinGen/G2P/GEL/Orphanet/ClinVar — any validity level, MR adds little); exploratory rare-variant signal = ExWAS burden evidence without curation — a candidate NEW gene-disease relationship; common-variant locus = GWAS signal, classic pQTL-MR territory; multi-layer = burden+GWAS together, an allelic-series candidate (the strongest causal setup). Burden estimand is carrier-vs-noncarrier, not per-SD MR.
| Disease |
genetic assoc. |
burden (ExWAS) |
causal status |
MR status |
| bone fracture |
0.705 |
— |
common-variant locus |
no MR -> candidate analysis |
| complement deficiency |
0.597 |
— |
common-variant locus |
no MR -> candidate analysis |
| pernicious anemia |
0.533 |
— |
common-variant locus |
no MR -> candidate analysis |
| placental abruption |
0.532 |
— |
common-variant locus |
no MR -> candidate analysis |
| radius fracture |
0.498 |
— |
common-variant locus |
no MR -> candidate analysis |
| ulna fracture |
0.498 |
— |
common-variant locus |
no MR -> candidate analysis |
| androgenetic alopecia |
0.498 |
— |
common-variant locus |
no MR -> candidate analysis |
| Abnormal nasolacrimal system morphology |
0.409 |
— |
common-variant locus |
no MR -> candidate analysis |
| aortic valve stenosis |
0.406 |
— |
common-variant locus |
no MR -> candidate analysis |
| color vision disorder |
0.402 |
— |
common-variant locus |
no MR -> candidate analysis |
| mannose-binding lectin deficiency |
0.317 |
— |
established (curated) |
no MR -> candidate analysis |
| hyperaldosteronism |
0.398 |
— |
common-variant locus |
no MR -> candidate analysis |
| tricuspid valve disorder |
0.396 |
— |
common-variant locus |
no MR -> candidate analysis |
| Paroxysmal supraventricular tachycardia |
0.394 |
— |
common-variant locus |
no MR -> candidate analysis |
| psoriatic arthritis |
0.384 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 15 rows above, 15 have no MR estimate in this resource. Across all retrieved diseases for this gene: 0 exploratory rare-variant signal(s), 0 multi-layer (allelic-series candidate) pair(s). Final triage still belongs to a statistical geneticist.
5. Downstream annotation (druggability & safety preview)
| Layer |
Result |
| ChEMBL druggability |
0 known modulators (Mannose-binding protein C) |
| gnomAD constraint |
pLI=0.15, LOEUF=0.935 — LoF-tolerant |
| GWAS Catalog |
121 unique SNPs / 305 rows |
| ClinVar |
149 records; 2 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 840 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.chembl — ChEMBL target matched by text search on ‘MBL2’ and resolved to ‘Mannose-binding protein C’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 149 ClinVar records for this gene; it is a sample, not a rate.pharmgkb — No PharmGKB/ClinPGx clinical annotations (gene may not be a pharmacogene).gwas_traits — Top 20 of 33 traits by best p-value, aggregated from 86 association rows. These are GWAS ASSOCIATIONS (loci), not causal claims; mapped genes at a locus are not necessarily the effector gene.
Sources
uniprot: https://www.uniprot.org/uniprotkb/P11226 — UniProt release 2026_02 (10-June-2026)mr_outcomes: https://epigraphdb.org/pqtl/ — EpiGraphDB pQTL MR (Zheng et al., Nat Genet 2020) — pre-computed two-sample MR; retrieved, not computed by this agent; EpiGraphDB build 1.0, pQTL dataset v3.0phenome: https://platform.opentargets.org/target/ENSG00000165471/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL1795113/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/MBL2 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/MBL2 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=MBL2%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/MBL2 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T03:45:16 · Tier: A
- Fully mechanical: every cell above is rendered from tool return values. No language model wrote any part of this dossier.
- MR estimates, where present, are retrieved from published work (EpiGraphDB pQTL, Zheng et al. Nat Genet 2020); nothing is computed here.
- Tool errors this run: none