CausalSentinel

Protein Dossier — TPPP2 (Tubulin polymerization-promoting protein family member 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
Height 0.0809 0.0146 2.77e-08 Wald ratio 1 trans 0.866
HDL cholesterol -0.11 0.024 4.81e-06 Wald ratio 1 trans NA
Birth weight 0.0698 0.017 3.94e-05 Wald ratio 1 trans NA
Non-cancer illness code self-reported: hypothyroidism or myxoedema -0.267 0.0723 2.24e-04 Wald ratio 1 trans NA
Forced vital capacity (FVC) 0.0328 0.0102 0.00124 Wald ratio 1 trans NA
Depressive symptoms -0.0512 0.0162 0.00154 Wald ratio 1 trans NA
Mean platelet volume -0.0167 0.00539 0.00194 Wald ratio 1 trans NA
Ovarian cancer -0.187 0.068 0.00587 Wald ratio 1 trans NA
Subjective well being -0.0431 0.0162 0.00766 Wald ratio 1 trans NA
Weight 0.028 0.0109 0.0104 Wald ratio 1 trans NA
Lung cancer -0.244 0.0967 0.0116 Wald ratio 1 trans NA
Urate 0.0674 0.027 0.0124 Wald ratio 1 trans NA
…and 115 more outcomes (see JSON)              

2. pQTL instrument availability (Tier-B probe)

No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).

3. GWAS Catalog results — traits with signal at this locus

5 association rows across 5 traits (3 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
Histidine levels 3e-23 rs147773754 1 GCST90092830 no MR -> candidate analysis
Glutamine levels 1e-15 rs147773754 1 GCST90092818 no MR -> candidate analysis
Exostosis of jaw (PheCode 526.8) 5e-12 rs539018113 1 GCST90480282 no MR -> candidate analysis
Alzheimer’s disease, proxy Alzheimer’s disease or related de 5e-6 rs1243453 1 GCST90654666 no MR -> candidate analysis
Hip circumference adjusted for BMI 9e-6 rs190897369 1 GCST008156 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 98 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
alcohol drinking 0.312 common-variant locus no MR -> candidate analysis
exostosis 0.132 common-variant locus no MR -> candidate analysis

Of the 2 rows above, 2 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=0.017, LOEUF=1.11 — LoF-tolerant
GWAS Catalog 81 unique SNPs / 162 rows
ClinVar 95 records; 1 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance