Protein Dossier — FCN2 (Ficolin-2)
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 |
| ER-positive Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) |
0.0525 |
0.0158 |
9.06e-04 |
Inverse variance weighted |
2 |
cis |
NA |
| ER-positive Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) |
0.0525 |
0.0158 |
9.06e-04 |
Inverse variance weighted |
2 |
trans |
NA |
| Diagnoses - main ICD10: M17 Gonarthrosis [arthrosis of knee] |
0.0973 |
0.0307 |
0.00154 |
Inverse variance weighted |
2 |
cis |
NA |
| Diagnoses - main ICD10: M17 Gonarthrosis [arthrosis of knee] |
0.0973 |
0.0307 |
0.00154 |
Inverse variance weighted |
2 |
trans |
NA |
| Red blood cell count |
0.0248 |
0.00851 |
0.00359 |
Wald ratio |
1 |
trans |
NA |
| Small vessel disease |
-0.334 |
0.126 |
0.0082 |
Wald ratio |
1 |
trans |
NA |
| Diagnoses - main ICD10: G56 Mononeuropathies of upper limb |
-0.0973 |
0.0395 |
0.0136 |
Inverse variance weighted |
2 |
cis |
NA |
| Diagnoses - main ICD10: G56 Mononeuropathies of upper limb |
-0.0973 |
0.0395 |
0.0136 |
Inverse variance weighted |
2 |
trans |
NA |
| Forced vital capacity (FVC) |
-0.00937 |
0.00386 |
0.0152 |
Inverse variance weighted |
2 |
cis |
NA |
| Forced vital capacity (FVC) |
-0.00937 |
0.00386 |
0.0152 |
Inverse variance weighted |
2 |
trans |
NA |
| Non-cancer illness code self-reported: hypertension |
0.0187 |
0.00787 |
0.0174 |
Inverse variance weighted |
2 |
cis |
NA |
| Non-cancer illness code self-reported: hypertension |
0.0187 |
0.00787 |
0.0174 |
Inverse variance weighted |
2 |
trans |
NA |
| …and 155 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3313_21_2 |
FCN2 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
69 association rows across 31 traits (63 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 FCN2 levels |
7e-2318 |
rs7041446 |
5 |
GCST90860487 |
no MR -> candidate analysis |
| Ficolin-2 levels |
1e-645 |
rs7851696 |
10 |
GCST90247615 |
no MR -> candidate analysis |
| Serum levels of protein FCN2 |
2e-305 |
rs12685659 |
5 |
GCST90087631 |
no MR -> candidate analysis |
| Ficolin-1 levels |
3e-255 |
rs7037264 |
1 |
GCST90247614 |
no MR -> candidate analysis |
| Ficolin-2 (analyte X13717.15) levels |
5e-215 |
rs7037264 |
1 |
GCST90422320 |
no MR -> candidate analysis |
| Blood protein levels |
1e-164 |
rs12685659 |
2 |
GCST006585 |
no MR -> candidate analysis |
| FCN2 protein levels |
2e-125 |
rs7041446 |
14 |
GCST90453290 |
no MR -> candidate analysis |
| FCN1 protein levels |
3e-102 |
rs17514136 |
3 |
GCST90469203 |
no MR -> candidate analysis |
| SUN domain-containing protein 3 levels |
2e-100 |
rs7041446 |
2 |
GCST90249734 |
no MR -> candidate analysis |
| Ficolin-2 (analyte X3313.21) levels |
7e-97 |
rs4521835 |
1 |
GCST90425688 |
no MR -> candidate analysis |
| Ficolin-2 levels (FCN2.3313.21.2) |
4e-72 |
rs57136797 |
3 |
GCST90241185 |
no MR -> candidate analysis |
| Mannan-binding lectin serine protease 1 levels |
6e-68 |
rs7041446 |
2 |
GCST90248429 |
no MR -> candidate analysis |
| …and 19 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 249 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 |
| hypopituitarism |
0.389 |
— |
common-variant locus |
MR: beta=-0.376, p=0.425 (cis) |
| male infertility |
0.104 |
— |
common-variant locus |
no MR -> candidate analysis |
| major depressive disorder |
0.062 |
— |
common-variant locus |
MR: beta=-0.0618, p=0.427 (trans) |
| musculoskeletal system disorder |
0.058 |
— |
common-variant locus |
no MR -> candidate analysis |
| insomnia |
0.053 |
— |
common-variant locus |
no MR -> candidate analysis |
| pernicious anemia |
0.045 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 6 rows above, 4 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=8.8e-11, LOEUF=1.29 — LoF-tolerant |
| GWAS Catalog |
109 unique SNPs / 236 rows |
| ClinVar |
121 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
2 clinical annotations across 1 drugs |
phenome — Top 30 of 249 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 ‘FCN2’.
clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 121 ClinVar records for this gene; it is a sample, not a rate.
gwas_traits — Top 20 of 31 traits by best p-value, aggregated from 69 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/Q15485 — 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 v3.0
phenome: https://platform.opentargets.org/target/ENSG00000160339/associations — Open Targets data release 26.06
gnomad: https://gnomad.broadinstitute.org/gene/FCN2 — gnomAD constraint via GraphQL API (reference genome GRCh38)
gwas: https://www.ebi.ac.uk/gwas/genes/FCN2 — GWAS Catalog REST (live; release not exposed by this endpoint)
clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=FCN2%5Bgene%5D — ClinVar build Build260809-1055.1
pharmgkb: https://www.pharmgkb.org/search?query=FCN2 — ClinPGx clinicalAnnotation via https://api.clinpgx.org/v1/data
gwas_traits: https://www.ebi.ac.uk/gwas/genes/FCN2 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T02:38:22 · 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