Protein Dossier — SPOCK2 (Testican-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 |
| Non-cancer illness code self-reported: pneumothorax |
0.866 |
0.245 |
4.03e-04 |
Wald ratio |
1 |
cis |
NA |
| Neuroticism |
0.0459 |
0.0138 |
8.58e-04 |
Wald ratio |
1 |
cis |
NA |
| Lung adenocarcinoma |
-0.355 |
0.116 |
0.0023 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: ankylosing spondylitis |
0.414 |
0.142 |
0.00352 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: M23 Internal derangement of knee |
-0.245 |
0.0962 |
0.011 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: M17 Gonarthrosis [arthrosis of knee] |
-0.246 |
0.103 |
0.0173 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: enlarged prostate |
0.168 |
0.0806 |
0.0371 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: M16 Coxarthrosis [arthrosis of hip] |
0.164 |
0.0788 |
0.0372 |
Wald ratio |
1 |
cis |
NA |
| Schizophrenia |
0.101 |
0.0491 |
0.0398 |
Wald ratio |
1 |
cis |
NA |
| Endometrioid ovarian cancer |
0.253 |
0.134 |
0.0594 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: asthma |
-0.0604 |
0.033 |
0.0674 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: D12 Benign neoplasm of colon rectum anus and anal canal |
0.148 |
0.0812 |
0.0676 |
Wald ratio |
1 |
cis |
NA |
| …and 108 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-5491_12_3 |
Testican-2 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
39 association rows across 29 traits (30 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 |
| ACAN protein levels |
3e-242 |
rs11000138 |
1 |
GCST90468196 |
no MR -> candidate analysis |
| Circulating ACAN levels |
2e-120 |
rs61852248 |
1 |
GCST90860590 |
no MR -> candidate analysis |
| Testican-2 levels |
3e-104 |
rs1245540 |
4 |
GCST90426371 |
no MR -> candidate analysis |
| Testican-2 levels (SPOCK2.5491.12.3) |
3e-19 |
rs1245540 |
1 |
GCST90242987 |
no MR -> candidate analysis |
| Aortic stenosis |
5e-18 |
rs1245518 |
5 |
GCST90837544 |
no MR -> candidate analysis |
| Thoracic or lumbosacral neuritis or radiculitis, unspecified |
1e-17 |
rs1245512 |
2 |
GCST90480572 |
no MR -> candidate analysis |
| Blood protein levels |
3e-17 |
rs1245547 |
1 |
GCST006585 |
no MR -> candidate analysis |
| Back pain (PheCode 760) |
5e-16 |
rs1245527 |
1 |
GCST90480570 |
no MR -> candidate analysis |
| Osteoarthritis (with total hip replacement) |
6e-14 |
rs7895905 |
1 |
GCST90566802 |
no MR -> candidate analysis |
| VSIR protein levels |
8e-14 |
rs542440927 |
1 |
GCST90471053 |
no MR -> candidate analysis |
| Displacement of intervertebral disc (PheCode 722.1) |
3e-13 |
rs11000138 |
1 |
GCST90480510 |
no MR -> candidate analysis |
| Circulating SFTPD levels |
5e-13 |
rs1245555 |
1 |
GCST90859954 |
no MR -> candidate analysis |
| …and 17 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 144 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 |
| Back pain |
0.559 |
— |
common-variant locus |
no MR -> candidate analysis |
| osteoarthritis, knee |
0.535 |
— |
common-variant locus |
no MR -> candidate analysis |
| Pain |
0.366 |
— |
common-variant locus |
MR: beta=0.0797, p=0.107 (cis) |
| radiculitis |
0.216 |
— |
common-variant locus |
no MR -> candidate analysis |
| arthropathy |
0.153 |
— |
common-variant locus |
no MR -> candidate analysis |
| vertebral column disorder |
0.11 |
— |
common-variant locus |
no MR -> candidate analysis |
| alcohol drinking |
0.1 |
— |
common-variant locus |
no MR -> candidate analysis |
| Intervertebral Disc Displacement |
0.061 |
— |
common-variant locus |
no MR -> candidate analysis |
| osteoarthritis, hip |
0.055 |
— |
common-variant locus |
MR: beta=0.14, p=0.29 (cis) |
| musculoskeletal system disorder |
0.049 |
— |
common-variant locus |
no MR -> candidate analysis |
| spinal cord injury |
0.047 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 11 rows above, 9 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=9.2e-09, LOEUF=0.847 — LoF-tolerant |
| GWAS Catalog |
60 unique SNPs / 120 rows |
| ClinVar |
91 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 144 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 ‘SPOCK2’.
clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 91 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 29 traits by best p-value, aggregated from 39 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/Q92563 — 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/ENSG00000107742/associations — Open Targets data release 26.06
gnomad: https://gnomad.broadinstitute.org/gene/SPOCK2 — gnomAD constraint via GraphQL API (reference genome GRCh38)
gwas: https://www.ebi.ac.uk/gwas/genes/SPOCK2 — GWAS Catalog REST (live; release not exposed by this endpoint)
clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=SPOCK2%5Bgene%5D — ClinVar build Build260809-1055.1
gwas_traits: https://www.ebi.ac.uk/gwas/genes/SPOCK2 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T05:13:22 · 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