Protein Dossier — RTN4R (Reticulon-4 receptor)
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: kidney stone or ureter stone or bladder stone |
0.231 |
0.0718 |
0.00128 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: sleep apnoea |
0.305 |
0.107 |
0.00451 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: I83 Varicose veins of lower extremities |
-0.189 |
0.0674 |
0.00518 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: D25 Leiomyoma of uterus |
0.156 |
0.0603 |
0.00971 |
Wald ratio |
1 |
cis |
NA |
| Heel bone mineral density (BMD) T-score automated |
0.0264 |
0.0103 |
0.0102 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K20 Oesophagitis |
0.172 |
0.068 |
0.0113 |
Wald ratio |
1 |
cis |
NA |
| Cancer code self-reported: basal cell carcinoma |
0.164 |
0.0709 |
0.0208 |
Wald ratio |
1 |
cis |
NA |
| Happiness |
0.0227 |
0.00986 |
0.0211 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hypertrophic cardiomyopathy (hcm or hocm) |
0.693 |
0.312 |
0.0261 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: chronic obstructive airways disease or copd |
0.236 |
0.109 |
0.0311 |
Wald ratio |
1 |
cis |
NA |
| Knee and hip osteoarthritis |
0.147 |
0.0695 |
0.0349 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: asthma |
0.0442 |
0.0213 |
0.0384 |
Wald ratio |
1 |
cis |
NA |
| …and 67 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-5105_2_3 |
Nogo Receptor |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
22 association rows across 13 traits (18 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 RTN4R levels |
1e-398 |
rs696881 |
5 |
GCST90860400 |
no MR -> candidate analysis |
| Reticulon-4 receptor levels |
1e-86 |
rs696881 |
3 |
GCST90249206 |
no MR -> candidate analysis |
| RTN4R protein levels |
7e-86 |
rs112262759 |
4 |
GCST90470508 |
no MR -> candidate analysis |
| Serum levels of protein RTN4R |
2e-36 |
rs696880 |
1 |
GCST90088927 |
no MR -> candidate analysis |
| Reticulon-4 receptor levels (RTN4R.5105.2.3) |
1e-23 |
rs701428 |
1 |
GCST90242633 |
no MR -> candidate analysis |
| COMT protein levels |
3e-22 |
rs145542169 |
1 |
GCST90468828 |
no MR -> candidate analysis |
| Gut microbial network clusters (Cyan (at 3 months) x Vaginal |
9e-9 |
rs9617869 |
1 |
GCST90569293 |
no MR -> candidate analysis |
| Relative abundance of the human milk microbiota (HMM) Entero |
9e-9 |
rs17757179 |
1 |
GCST90428938 |
no MR -> candidate analysis |
| S-adenosylhomocysteine (SAH) levels |
4e-8 |
rs145542169 |
1 |
GCST90503881 |
no MR -> candidate analysis |
| RS-6-hydroxywarfarin levels |
1e-6 |
rs8139225 |
1 |
GCST90129567 |
no MR -> candidate analysis |
| Obesity-related traits |
2e-6 |
rs701428 |
1 |
GCST001762 |
no MR -> candidate analysis |
| Tiglylcarnitine (C5:1-DC) levels in elite athletes |
3e-6 |
rs854941 |
1 |
GCST90133612 |
no MR -> candidate analysis |
| …and 1 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 570 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 |
| schizophrenia |
0.784 |
— |
established (curated) |
MR: beta=0.0635, p=0.0688 (cis) |
| placenta praevia |
0.193 |
— |
common-variant locus |
no MR -> candidate analysis |
| response to stimulus |
0.193 |
— |
common-variant locus |
no MR -> candidate analysis |
| head and neck cancer |
0.182 |
— |
established (curated) |
no MR -> candidate analysis |
Of the 4 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 |
not available — no ChEMBL target (undrugged) |
| gnomAD constraint |
pLI=1, LOEUF=0.33 — LoF-INTOLERANT |
| GWAS Catalog |
60 unique SNPs / 119 rows |
| ClinVar |
501 records; 23 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 570 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 ‘RTN4R’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 501 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 13 of 13 traits by best p-value, aggregated from 22 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/Q9BZR6 — 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/ENSG00000040608/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/RTN4R — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/RTN4R — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=RTN4R%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/RTN4R — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T04:54:31 · 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