Protein Dossier — ACP5 (Tartrate-resistant acid phosphatase type 5)
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 |
| Paget’s disease |
-0.584 |
0.175 |
8.52e-04 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: osteoporosis |
0.166 |
0.0516 |
0.00132 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: I84 Haemorrhoids |
0.118 |
0.0433 |
0.00623 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hypothyroidism or myxoedema |
-0.101 |
0.0373 |
0.00694 |
Wald ratio |
1 |
cis |
NA |
| Heel bone mineral density (BMD) T-score automated |
-0.0262 |
0.00979 |
0.00744 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hypopituitarism |
0.554 |
0.255 |
0.0299 |
Wald ratio |
1 |
cis |
NA |
| Sodium in urine |
0.016 |
0.00745 |
0.032 |
Wald ratio |
1 |
cis |
NA |
| Creatinine (enzymatic) in urine |
0.015 |
0.00724 |
0.038 |
Wald ratio |
1 |
cis |
NA |
| Ischemic stroke |
-0.103 |
0.0499 |
0.0388 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: emphysema or chronic bronchitis |
-0.157 |
0.0771 |
0.0421 |
Wald ratio |
1 |
cis |
NA |
| Bulimia nervosa |
-0.0454 |
0.0227 |
0.0455 |
Wald ratio |
1 |
cis |
NA |
| HOMA-B |
-0.0206 |
0.0105 |
0.0499 |
Wald ratio |
1 |
cis |
NA |
| …and 76 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3232_28_2 |
TrATPase |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
10 association rows across 4 traits (9 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 ACP5 levels |
6e-971 |
rs2305799 |
4 |
GCST90859953 |
no MR -> candidate analysis |
| ACP5 protein levels |
2e-208 |
rs147025508 |
2 |
GCST90468203 |
no MR -> candidate analysis |
| Tartrate-resistant acid phosphatase type 5 levels |
2e-77 |
rs7256770 |
3 |
GCST90425665 |
no MR -> candidate analysis |
| Cerebrospinal fluid protein ACP5 levels |
2e-42 |
rs2071484 |
1 |
GCST90944664 |
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 1599 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 |
| Spondyloenchondrodysplasia with immune dysregulation |
0.909 |
— |
established (curated) |
no MR -> candidate analysis |
| hereditary disease |
0.771 |
— |
established (curated) |
no MR -> candidate analysis |
| Alzheimer disease |
0.302 |
— |
common-variant locus |
no MR -> candidate analysis |
| thrombophilia |
0.336 |
— |
common-variant locus |
no MR -> candidate analysis |
| Abnormality of the skeletal system |
0.206 |
— |
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 (Tartrate-resistant acid phosphatase type 5) |
| gnomAD constraint |
pLI=1.1e-07, LOEUF=1.18 — LoF-tolerant |
| GWAS Catalog |
49 unique SNPs / 98 rows |
| ClinVar |
368 records; 3 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 1599 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 ‘ACP5’ and resolved to ‘Tartrate-resistant acid phosphatase type 5’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 368 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 4 of 4 traits by best p-value, aggregated from 10 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/P13686 — 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/ENSG00000102575/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL3120042/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/ACP5 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/ACP5 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=ACP5%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/ACP5 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T00:52:06 · 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