Protein Dossier — MRC2 (C-type mannose receptor 2)
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 |
| Diagnoses - main ICD10: I80 Phlebitis and thrombophlebitis |
0.536 |
0.125 |
1.88e-05 |
Wald ratio |
1 |
cis |
NA |
| Weight |
0.0442 |
0.0127 |
4.87e-04 |
Wald ratio |
1 |
cis |
NA |
| Forced vital capacity (FVC) |
0.0399 |
0.0118 |
7.03e-04 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: deep venous thrombosis (dvt) |
0.258 |
0.0793 |
0.00114 |
Wald ratio |
1 |
cis |
NA |
| Heel bone mineral density (BMD) T-score automated |
0.0569 |
0.0186 |
0.00224 |
Wald ratio |
1 |
cis |
NA |
| Diastolic blood pressure automated reading |
0.0418 |
0.0147 |
0.00447 |
Wald ratio |
1 |
cis |
NA |
| Birth weight |
0.0667 |
0.0247 |
0.00686 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: M54 Dorsalgia |
0.232 |
0.0893 |
0.00955 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: gout |
-0.559 |
0.224 |
0.0125 |
Wald ratio |
1 |
cis |
NA |
| Body mass index (BMI) |
0.0353 |
0.0144 |
0.0139 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: pulmonary embolism (with or without) dvt |
0.295 |
0.121 |
0.0146 |
Wald ratio |
1 |
cis |
NA |
| Ovarian cancer |
-0.194 |
0.0885 |
0.0286 |
Wald ratio |
1 |
cis |
NA |
| …and 62 more outcomes (see JSON) |
|
|
|
|
|
|
|
2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3041_55_2 |
MRC2 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
68 association rows across 41 traits (62 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 |
| MATN3 protein levels |
1e-85 |
rs12452590 |
1 |
GCST90469865 |
no MR -> candidate analysis |
| Pulse pressure |
7e-42 |
rs56288724 |
7 |
GCST90310296 |
no MR -> candidate analysis |
| C-type mannose receptor 2 levels |
5e-37 |
rs2465428 |
4 |
GCST90137810 |
no MR -> candidate analysis |
| Height |
4e-29 |
rs2014055 |
5 |
GCST90245848 |
no MR -> candidate analysis |
| diastolic blood pressure (DBP, mean, inv-normal transformed) |
1e-22 |
rs56288724 |
2 |
GCST90475255 |
no MR -> candidate analysis |
| Sex hormone-binding globulin levels and heel estimated bone |
2e-21 |
rs12452590 |
1 |
GCST90399396 |
no MR -> candidate analysis |
| FEV1 FVC ratio Z score (UKB data field 20258) |
3e-21 |
rs12452590 |
1 |
GCST90468165 |
no MR -> candidate analysis |
| Body shape phenotype PC2 |
1e-20 |
rs12452590 |
1 |
GCST90832990 |
no MR -> candidate analysis |
| Sex hormone-binding globulin levels adjusted for BMI and hee |
2e-20 |
rs12452590 |
1 |
GCST90399398 |
no MR -> candidate analysis |
| Lung function (FEV1/FVC) |
4e-19 |
rs12452590 |
2 |
GCST90244094 |
no MR -> candidate analysis |
| Heel bone mineral density |
6e-19 |
rs12452590 |
2 |
GCST006979 |
MR: beta=0.0569, p=0.00224 (cis) |
| THBS2 protein levels |
4e-18 |
rs146172137 |
1 |
GCST90470854 |
no MR -> candidate analysis |
| …and 29 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 199 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 |
| abdominal aortic aneurysm |
0.735 |
— |
common-variant locus |
no MR -> candidate analysis |
| aneurysm |
0.636 |
— |
common-variant locus |
no MR -> candidate analysis |
| aortic aneurysm |
0.635 |
— |
common-variant locus |
no MR -> candidate analysis |
| hypertensive disorder |
0.512 |
— |
common-variant locus |
no MR -> candidate analysis |
| type 2 diabetes mellitus |
0.488 |
— |
common-variant locus |
no MR -> candidate analysis |
| coronary artery disorder |
0.461 |
— |
common-variant locus |
no MR -> candidate analysis |
| migraine disorder |
0.461 |
— |
common-variant locus |
no MR -> candidate analysis |
| musculoskeletal system disorder |
0.373 |
— |
common-variant locus |
no MR -> candidate analysis |
| mathematical ability |
0.094 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 9 rows above, 9 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 |
not available — no ChEMBL target (undrugged) |
| gnomAD constraint |
pLI=0.31, LOEUF=0.488 — LoF-tolerant |
| GWAS Catalog |
70 unique SNPs / 125 rows |
| ClinVar |
239 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 199 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.chembl — No ChEMBL target for ‘MRC2’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 239 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 41 traits by best p-value, aggregated from 68 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/Q9UBG0 — 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/ENSG00000011028/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/MRC2 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/MRC2 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=MRC2%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/MRC2 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T03:51:58 · 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