Protein Dossier — IGF2R (Cation-independent mannose-6-phosphate receptor)
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 |
| Birth length |
-0.0581 |
0.0159 |
2.62e-04 |
Wald ratio |
1 |
cis |
NA |
| Vascular or heart problems diagnosed by doctor: Angina |
-0.0655 |
0.0232 |
0.00472 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: H25 Senile cataract |
0.106 |
0.0398 |
0.00772 |
Wald ratio |
1 |
cis |
NA |
| Fasting glucose |
-0.0133 |
0.00512 |
0.00909 |
Wald ratio |
1 |
cis |
NA |
| Body mass index (BMI) |
0.0101 |
0.00387 |
0.00911 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: enlarged prostate |
-0.0918 |
0.0363 |
0.0115 |
Wald ratio |
1 |
cis |
NA |
| Weight |
0.00736 |
0.00342 |
0.0314 |
Wald ratio |
1 |
cis |
NA |
| Eye problems or disorders: Glaucoma |
0.0649 |
0.0303 |
0.0325 |
Wald ratio |
1 |
cis |
NA |
| Transferrin |
-0.0364 |
0.0171 |
0.0337 |
Wald ratio |
1 |
cis |
NA |
| Bipolar disorder |
-0.0818 |
0.0387 |
0.0346 |
Wald ratio |
1 |
cis |
NA |
| Systemic lupus erythematosus |
-0.169 |
0.0799 |
0.0346 |
Wald ratio |
1 |
cis |
NA |
| Alzheimer’s disease |
-0.0556 |
0.0268 |
0.038 |
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-3676_15_3 |
IGF-II receptor |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
600 association rows across 288 traits (582 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 |
| Circulating IGF2R levels |
2e-806 |
rs13220323 |
6 |
GCST90860615 |
no MR -> candidate analysis |
| Cation-independent mannose-6-phosphate receptor levels |
1e-447 |
rs3777404 |
12 |
GCST90247067 |
no MR -> candidate analysis |
| CTSO/IGF2R protein level ratio |
1e-420 |
rs12202350 |
1 |
GCST90314317 |
no MR -> candidate analysis |
| IGF2R protein levels |
1e-256 |
rs2297364 |
7 |
GCST90469526 |
no MR -> candidate analysis |
| Cation-independent mannose-6-phosphate receptor levels (IGF2 |
1e-162 |
rs629849 |
3 |
GCST90240631 |
no MR -> candidate analysis |
| Serum levels of protein IGF2R |
2e-151 |
rs629849 |
3 |
GCST90088485 |
no MR -> candidate analysis |
| Lipoprotein (a) levels |
3e-125 |
rs117727234 |
15 |
GCST90019513 |
no MR -> candidate analysis |
| CTSO protein levels |
6e-125 |
rs76778371 |
2 |
GCST90468915 |
no MR -> candidate analysis |
| Circulating CTSO levels |
1e-124 |
rs76778371 |
4 |
GCST90860333 |
no MR -> candidate analysis |
| Low density lipoprotein cholesterol levels |
1e-86 |
rs2297359 |
11 |
GCST90239655 |
no MR -> candidate analysis |
| Blood protein levels |
6e-86 |
rs629849 |
2 |
GCST006585 |
no MR -> candidate analysis |
| Non-HDL cholesterol levels |
6e-69 |
rs78425119 |
2 |
GCST90239667 |
no MR -> candidate analysis |
| …and 276 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 909 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 |
| coronary artery disorder |
0.814 |
— |
common-variant locus |
no MR -> candidate analysis |
| hepatocellular carcinoma |
0.508 |
— |
established (curated) |
no MR -> candidate analysis |
| Hypercholesterolemia |
0.7 |
— |
common-variant locus |
no MR -> candidate analysis |
| heart disorder |
0.581 |
— |
common-variant locus |
no MR -> candidate analysis |
| angina pectoris |
0.57 |
— |
common-variant locus |
no MR -> candidate analysis |
| myocardial infarction |
0.544 |
— |
common-variant locus |
no MR -> candidate analysis |
| myocardial ischemia |
0.534 |
— |
common-variant locus |
no MR -> candidate analysis |
| metabolic disease |
0.504 |
— |
common-variant locus |
no MR -> candidate analysis |
| coronary atherosclerosis |
0.459 |
— |
common-variant locus |
no MR -> candidate analysis |
| hypertrophic cardiomyopathy |
0.421 |
— |
common-variant locus |
no MR -> candidate analysis |
| alcohol drinking |
0.442 |
— |
common-variant locus |
no MR -> candidate analysis |
| primary ovarian failure |
0.438 |
— |
established (curated) |
no MR -> candidate analysis |
| hyperlipidemia |
0.371 |
— |
common-variant locus |
no MR -> candidate analysis |
| injury |
0.365 |
— |
common-variant locus |
MR: beta=-0.0936, p=0.386 (cis) |
| diabetic ketoacidosis |
0.342 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 15 rows above, 14 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 (Cation-independent mannose-6-phosphate receptor) |
| gnomAD constraint |
pLI=1, LOEUF=0.4 — LoF-INTOLERANT |
| GWAS Catalog |
207 unique SNPs / 505 rows |
| ClinVar |
428 records; 2 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 909 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 ‘IGF2R’ and resolved to ‘Cation-independent mannose-6-phosphate receptor’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 428 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 288 traits by best p-value, aggregated from 600 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/P11717 — 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/ENSG00000197081/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL3240/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/IGF2R — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/IGF2R — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=IGF2R%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/IGF2R — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T03:07:51 · 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