Protein Dossier — PRTN3 (Myeloblastin)
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 |
-0.0199 |
0.00611 |
0.00116 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: chronic obstructive airways disease or copd |
0.207 |
0.066 |
0.00174 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K60 Fissure and fistula of anal and rectal regions |
0.15 |
0.0603 |
0.0127 |
Wald ratio |
1 |
cis |
NA |
| ER-positive Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) |
0.0406 |
0.0172 |
0.0183 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: arthritis (nos) |
-0.147 |
0.0631 |
0.0201 |
Wald ratio |
1 |
cis |
NA |
| Cough on most days |
-0.0541 |
0.0255 |
0.0336 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: osteoporosis |
0.0731 |
0.0352 |
0.0378 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: R14 Flatulence and related conditions |
0.283 |
0.152 |
0.0629 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: M23 Internal derangement of knee |
-0.0566 |
0.0336 |
0.0918 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: N20 Calculus of kidney and ureter |
0.0861 |
0.0517 |
0.0957 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: ankylosing spondylitis |
-0.177 |
0.108 |
0.101 |
Wald ratio |
1 |
cis |
NA |
| Cancer code self-reported: malignant melanoma |
-0.0893 |
0.0587 |
0.128 |
Wald ratio |
1 |
cis |
NA |
| …and 46 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3514_49_2 |
Proteinase-3 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
84 association rows across 42 traits (81 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 PRTN3 levels |
1e-1200 |
rs6510982 |
3 |
GCST90859963 |
no MR -> candidate analysis |
| MPO/PRTN3 protein level ratio |
3e-939 |
rs12052108 |
1 |
GCST90315492 |
no MR -> candidate analysis |
| LCN2/PRTN3 protein level ratio |
7e-873 |
rs12052108 |
1 |
GCST90315307 |
no MR -> candidate analysis |
| Myeloblastin levels |
2e-424 |
rs6510982 |
13 |
GCST90248550 |
no MR -> candidate analysis |
| Circulating AZU1 levels |
4e-226 |
rs138032111 |
3 |
GCST90859945 |
no MR -> candidate analysis |
| AZU1 protein levels |
2e-204 |
rs138032111 |
2 |
GCST90468408 |
no MR -> candidate analysis |
| Myeloblastin levels (PRTN3.3514.49.2) |
8e-110 |
rs10425544 |
5 |
GCST90241987 |
no MR -> candidate analysis |
| Neutrophil forward scatter |
2e-82 |
rs7254911 |
1 |
GCST90281224 |
no MR -> candidate analysis |
| Neutrophil elastase levels |
2e-61 |
rs10409474 |
1 |
GCST90248653 |
no MR -> candidate analysis |
| Hematological traits (multi-trait analysis) |
2e-54 |
rs76427287 |
1 |
GCST90838669 |
no MR -> candidate analysis |
| Neutrophil side scatter distribution width |
6e-54 |
rs138303849 |
1 |
GCST90281225 |
no MR -> candidate analysis |
| Neutrophil side scatter |
6e-52 |
rs76427287 |
1 |
GCST90281222 |
no MR -> candidate analysis |
| …and 30 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 801 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 |
| IgA glomerulonephritis |
0.283 |
— |
common-variant locus |
no MR -> candidate analysis |
| anti-neutrophil antibody associated vasculitis |
0.259 |
— |
common-variant locus |
no MR -> candidate analysis |
| stroke disorder |
0.18 |
— |
common-variant locus |
no MR -> candidate analysis |
| alcohol drinking |
0.18 |
— |
common-variant locus |
no MR -> candidate analysis |
| pyogenic granuloma |
0.18 |
— |
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 |
0 known modulators (Myeloblastin) |
| gnomAD constraint |
pLI=1.3e-08, LOEUF=1.52 — LoF-tolerant |
| GWAS Catalog |
131 unique SNPs / 312 rows |
| ClinVar |
85 records; 2 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 801 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 ‘PRTN3’ and resolved to ‘Myeloblastin’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 85 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 42 traits by best p-value, aggregated from 84 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/P24158 — 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/ENSG00000196415/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL3900/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/PRTN3 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/PRTN3 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=PRTN3%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/PRTN3 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T04:38:37 · 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