Protein Dossier — CPB2 (Carboxypeptidase B2)
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 |
| Alcohol intake frequency |
-0.0128 |
0.00446 |
0.00405 |
Wald ratio |
1 |
cis |
NA |
| Glioma |
0.129 |
0.0543 |
0.0177 |
Wald ratio |
1 |
cis |
NA |
| Cancer code self-reported: malignant melanoma |
-0.0847 |
0.0373 |
0.023 |
Wald ratio |
1 |
cis |
NA |
| Depressive symptoms |
-0.0106 |
0.00471 |
0.0244 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: D12 Benign neoplasm of colon rectum anus and anal canal |
0.054 |
0.0241 |
0.0253 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hypertension |
-0.011 |
0.0052 |
0.0338 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: arthritis (nos) |
0.0682 |
0.0325 |
0.0357 |
Wald ratio |
1 |
cis |
NA |
| Large vessel disease |
-0.0907 |
0.0437 |
0.0379 |
Wald ratio |
1 |
cis |
NA |
| Cardioembolic stroke |
0.0817 |
0.0397 |
0.0395 |
Wald ratio |
1 |
cis |
NA |
| Heel bone mineral density (BMD) T-score automated |
-0.00788 |
0.00391 |
0.0435 |
Wald ratio |
1 |
cis |
NA |
| Height |
-0.00695 |
0.00365 |
0.057 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: Z09 Follow-up examination after treatment for conditions other than malignant neoplasms |
0.0442 |
0.0235 |
0.0596 |
Wald ratio |
1 |
cis |
NA |
| …and 93 more outcomes (see JSON) |
|
|
|
|
|
|
|
2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3518_54_2 |
TAFI |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
126 association rows across 74 traits (121 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 |
| Succinate-semialdehyde dehydrogenase, mitochondrial levels |
2e-2461 |
rs1926446 |
1 |
GCST90249659 |
no MR -> candidate analysis |
| FAS-associated death domain protein levels |
1e-893 |
rs1926446 |
2 |
GCST90247545 |
no MR -> candidate analysis |
| Carboxypeptidase B2 levels |
8e-839 |
rs7336360 |
4 |
GCST90246876 |
no MR -> candidate analysis |
| Melanoregulin levels |
3e-749 |
rs7336360 |
1 |
GCST90248518 |
no MR -> candidate analysis |
| Uncharacterized protein KIAA2013 levels |
2e-658 |
rs1926446 |
1 |
GCST90250135 |
no MR -> candidate analysis |
| Pirin levels |
2e-436 |
rs1926446 |
2 |
GCST90249006 |
no MR -> candidate analysis |
| Uncharacterized protein KIAA2013 levels (KIAA2013.6538.90.3) |
5e-232 |
rs532540191 |
1 |
GCST90243283 |
no MR -> candidate analysis |
| Apelin levels |
9e-221 |
rs9534305 |
1 |
GCST90246537 |
no MR -> candidate analysis |
| LCP1 protein levels |
3e-205 |
rs11618380 |
6 |
GCST90469748 |
no MR -> candidate analysis |
| Serum levels of protein CPB2 |
5e-194 |
rs9534313 |
1 |
GCST90088431 |
no MR -> candidate analysis |
| CPB2 protein levels |
2e-177 |
rs17844025 |
15 |
GCST90468840 |
no MR -> candidate analysis |
| Serum levels of protein CALB1 |
5e-175 |
rs9534313 |
1 |
GCST90090908 |
no MR -> candidate analysis |
| …and 62 more traits (see JSON) |
|
|
|
|
|
4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 233 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 |
| type 2 diabetes mellitus |
0.288 |
— |
common-variant locus |
no MR -> candidate analysis |
| ovarian neoplasm |
0.079 |
— |
common-variant locus |
no MR -> candidate analysis |
| deficiency anemia |
0.06 |
— |
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 |
0 known modulators (Carboxypeptidase B2) |
| gnomAD constraint |
pLI=6.2e-18, LOEUF=1.19 — LoF-tolerant |
| GWAS Catalog |
100 unique SNPs / 202 rows |
| ClinVar |
117 records; 2 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 233 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 ‘CPB2’ and resolved to ‘Carboxypeptidase B2’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 117 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 74 traits by best p-value, aggregated from 126 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/Q96IY4 — 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/ENSG00000080618/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL3419/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/CPB2 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CPB2 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CPB2%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CPB2 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T01:59:57 · 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