Protein Dossier — SERPINE2 (Glia-derived nexin)
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 |
| Non-cancer illness code self-reported: deep venous thrombosis (dvt) |
-0.23 |
0.0603 |
1.35e-04 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: I80 Phlebitis and thrombophlebitis |
-0.415 |
0.154 |
0.00685 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: B37 Candidiasis |
0.527 |
0.199 |
0.00802 |
Wald ratio |
1 |
cis |
NA |
| Sodium in urine |
0.0145 |
0.00663 |
0.0283 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: ankylosing spondylitis |
0.219 |
0.104 |
0.0344 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: D12 Benign neoplasm of colon rectum anus and anal canal |
0.0997 |
0.0516 |
0.0532 |
Wald ratio |
1 |
cis |
NA |
| Nucleus accumbens volume |
7.26 |
3.76 |
0.0537 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: H25 Senile cataract |
0.121 |
0.0683 |
0.0769 |
Wald ratio |
1 |
cis |
NA |
| Thalamus volume |
37.5 |
21.3 |
0.0784 |
Wald ratio |
1 |
cis |
NA |
| Fractured bone site(s): Ankle |
0.092 |
0.0526 |
0.0799 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: C61 Malignant neoplasm of prostate |
0.128 |
0.0731 |
0.0811 |
Wald ratio |
1 |
cis |
NA |
| Cancer code self-reported: malignant melanoma |
0.119 |
0.0682 |
0.0821 |
Wald ratio |
1 |
cis |
NA |
| …and 68 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3217_74_2 |
Protease nexin I |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
288 association rows across 247 traits (276 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 |
| ANGPT1/PDGFB protein level ratio |
2e-1484 |
rs13412535 |
1 |
GCST90313267 |
no MR -> candidate analysis |
| PDGFA/PDGFB protein level ratio |
5e-1164 |
rs13412535 |
1 |
GCST90315614 |
no MR -> candidate analysis |
| APP/PDGFB protein level ratio |
8e-1008 |
rs13412535 |
1 |
GCST90313329 |
no MR -> candidate analysis |
| Glia-derived nexin levels |
4e-960 |
rs13412535 |
3 |
GCST90247735 |
no MR -> candidate analysis |
| PDGFB/SPARC protein level ratio |
5e-894 |
rs13412535 |
1 |
GCST90315628 |
no MR -> candidate analysis |
| DKK1/PDGFB protein level ratio |
2e-873 |
rs13412535 |
1 |
GCST90314476 |
no MR -> candidate analysis |
| PDGFB/VEGFC protein level ratio |
9e-799 |
rs13412535 |
1 |
GCST90315635 |
no MR -> candidate analysis |
| HBEGF/PDGFB protein level ratio |
8e-683 |
rs13412535 |
1 |
GCST90315034 |
no MR -> candidate analysis |
| PRKAR1A/SNAP23 protein level ratio |
3e-489 |
rs13412535 |
1 |
GCST90315728 |
no MR -> candidate analysis |
| PDGFB/SPINT2 protein level ratio |
2e-423 |
rs13412535 |
1 |
GCST90315629 |
no MR -> candidate analysis |
| CCL28/PDGFB protein level ratio |
5e-423 |
rs13412535 |
1 |
GCST90313695 |
no MR -> candidate analysis |
| DIABLO/PRKAR1A protein level ratio |
4e-382 |
rs13412535 |
1 |
GCST90314469 |
no MR -> candidate analysis |
| …and 235 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 318 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 |
| venous thromboembolism |
0.814 |
— |
common-variant locus |
no MR -> candidate analysis |
| Thromboembolism |
0.715 |
— |
common-variant locus |
no MR -> candidate analysis |
| deep vein thrombosis |
0.572 |
— |
common-variant locus |
no MR -> candidate analysis |
| phototoxic dermatitis |
0.32 |
— |
common-variant locus |
no MR -> candidate analysis |
| bone Paget disease |
0.299 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 5 rows above, 5 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=0.57, LOEUF=0.603 — LoF-tolerant |
| GWAS Catalog |
52 unique SNPs / 101 rows |
| ClinVar |
92 records; 2 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 318 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 ‘SERPINE2’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 92 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 247 traits by best p-value, aggregated from 288 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/P07093 — 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/ENSG00000135919/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/SERPINE2 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/SERPINE2 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=SERPINE2%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/SERPINE2 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T05:02:45 · 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