Protein Dossier — ADGRE2 (Adhesion G protein-coupled receptor E2)
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: D25 Leiomyoma of uterus |
0.265 |
0.0606 |
1.24e-05 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K44 Diaphragmatic hernia |
0.16 |
0.0611 |
0.00879 |
Wald ratio |
1 |
cis |
NA |
| Neo-extraversion |
-0.822 |
0.352 |
0.0195 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: B37 Candidiasis |
0.553 |
0.266 |
0.0376 |
Wald ratio |
1 |
cis |
NA |
| Height |
0.0313 |
0.0155 |
0.0432 |
Wald ratio |
1 |
cis |
NA |
| Birth weight |
-0.0293 |
0.0152 |
0.0532 |
Wald ratio |
1 |
cis |
NA |
| Neo-conscientiousness |
-0.67 |
0.347 |
0.0532 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K29 Gastritis and duodenitis |
0.0957 |
0.0526 |
0.0688 |
Wald ratio |
1 |
cis |
NA |
| Low grade serous ovarian cancer |
0.353 |
0.2 |
0.0782 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: Z09 Follow-up examination after treatment for conditions other than malignant neoplasms |
0.114 |
0.0651 |
0.0807 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: sleep apnoea |
0.227 |
0.131 |
0.082 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: N20 Calculus of kidney and ureter |
-0.24 |
0.138 |
0.0823 |
Wald ratio |
1 |
cis |
NA |
| …and 92 more outcomes (see JSON) |
|
|
|
|
|
|
|
2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-4546_27_3 |
EMR2 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
11 association rows across 10 traits (4 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 |
|
| Adhesion G protein-coupled receptor E2 levels |
2e-339 |
rs9305048 |
2 |
GCST90426071 |
no MR -> candidate analysis |
|
| Protein quantitative trait loci (liver) |
2e-8 |
rs117617387 |
1 |
GCST011427 |
no MR -> candidate analysis |
|
| Height |
2e-8 |
rs2732796 |
1 |
GCST90245844 |
MR: beta=0.0313, p=0.0432 (cis) |
|
| Peak concentration of apixaban |
5e-8 |
rs553498034 |
1 |
GCST90271720 |
no MR -> candidate analysis |
|
| Plasma androstenedione levels in resected early stage-recept |
1e-7 |
rs57712673 |
1 |
GCST004363 |
no MR -> candidate analysis |
|
| 2-hydroxypalmitate levels in elite athletes |
3e-7 |
rs3795033 |
1 |
GCST90133637 |
no MR -> candidate analysis |
|
| Major depressive disorder |
1e-6 |
rs112610420 |
1 |
GCST005547 |
no MR -> candidate analysis |
|
| Vaginal microbiome MetaCyc pathway (PWY-7007 |
methyl ketone b |
1e-6 |
rs4808487 |
1 |
GCST90026898 |
no MR -> candidate analysis |
| Response to gabapentin in female chronic pelvic pain (side-e |
2e-6 |
rs11666594 |
1 |
GCST90428069 |
no MR -> candidate analysis |
|
| Parkinson’s disease motor subtype (tremor to postural instab |
3e-6 |
rs538015403 |
1 |
GCST90000015 |
no MR -> candidate analysis |
|
4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 154 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 |
| vibratory urticaria |
0.688 |
— |
established (curated) |
no MR -> candidate analysis |
| autosomal dominant vibratory urticaria |
0.545 |
— |
established (curated) |
no MR -> candidate analysis |
| Genetic visceral malformation of the liver, biliary tract, pancreas or spleen |
0.267 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 3 rows above, 3 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=1.9e-23, LOEUF=0.988 — LoF-tolerant |
| GWAS Catalog |
30 unique SNPs / 58 rows |
| ClinVar |
701 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 154 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 ‘ADGRE2’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 701 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 10 of 10 traits by best p-value, aggregated from 11 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/Q9UHX3 — 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/ENSG00000127507/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/ADGRE2 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/ADGRE2 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=ADGRE2%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/ADGRE2 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T00:54:54 · 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