Protein Dossier — EPHB2 (Ephrin type-B receptor 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 |
| Neo-agreeableness |
0.707 |
0.194 |
2.74e-04 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hypothyroidism or myxoedema |
0.0913 |
0.0301 |
0.0024 |
Wald ratio |
1 |
cis |
NA |
| Forced vital capacity (FVC) |
-0.016 |
0.00607 |
0.00844 |
Wald ratio |
1 |
cis |
NA |
| Hirschsprung’s disease |
0.657 |
0.25 |
0.00862 |
Wald ratio |
1 |
cis |
NA |
| Forced expiratory volume in 1-second (FEV1) |
-0.0159 |
0.00641 |
0.0133 |
Wald ratio |
1 |
cis |
NA |
| Fasting glucose |
-0.0229 |
0.00931 |
0.014 |
Wald ratio |
1 |
cis |
NA |
| 2hr glucose |
-0.123 |
0.0523 |
0.0191 |
Wald ratio |
1 |
cis |
NA |
| Pulse rate |
-0.0284 |
0.013 |
0.0288 |
Wald ratio |
1 |
cis |
NA |
| Birth weight |
0.0232 |
0.0106 |
0.0289 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: M17 Gonarthrosis [arthrosis of knee] |
0.101 |
0.0483 |
0.0357 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: asthma |
0.0403 |
0.0199 |
0.0433 |
Wald ratio |
1 |
cis |
NA |
| Years of schooling |
0.0196 |
0.0098 |
0.0455 |
Wald ratio |
1 |
cis |
NA |
| …and 95 more outcomes (see JSON) |
|
|
|
|
|
|
|
2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-5077_28_3 |
EPHB2 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
57 association rows across 36 traits (46 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 |
| Bone mineral density mean |
1e-300 |
rs185093006 |
1 |
GCST90321120 |
no MR -> candidate analysis |
| Complement C1q subcomponent subunit C levels |
1e-169 |
rs75380810 |
2 |
GCST90246762 |
no MR -> candidate analysis |
| Ephrin type-B receptor 2 levels |
2e-142 |
rs2043970 |
3 |
GCST90247479 |
no MR -> candidate analysis |
| Ephrin type-B receptor 2 levels (EPHB2.8225.86.3) |
1e-42 |
rs6687487 |
3 |
GCST90241070 |
no MR -> candidate analysis |
| Serum levels of protein EPHB2 |
4e-40 |
rs2043970 |
2 |
GCST90090061 |
no MR -> candidate analysis |
| C1QA protein levels |
7e-40 |
rs167157 |
9 |
GCST90468485 |
no MR -> candidate analysis |
| Cerebellar grey matter morphology (MOSTest) |
6e-33 |
rs309477 |
1 |
GCST90728589 |
no MR -> candidate analysis |
| Tumor necrosis factor beta levels |
3e-32 |
rs78655189 |
1 |
GCST004425 |
no MR -> candidate analysis |
| Alkaline phosphatase (UKB data field 30610) |
4e-27 |
rs189870893 |
1 |
GCST90468060 |
no MR -> candidate analysis |
| Blood protein levels |
1e-26 |
rs2043970 |
3 |
GCST006585 |
no MR -> candidate analysis |
| Free Cholesterol to Cholesteryl Esters in Large HDL ratio |
2e-22 |
rs114809809 |
1 |
GCST90827800 |
no MR -> candidate analysis |
| Umbilical hernia (PheCode 550.4) |
2e-14 |
rs35001652 |
2 |
GCST90480313 |
no MR -> candidate analysis |
| …and 24 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 564 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 |
| Familial prostate cancer |
0.195 |
— |
established (curated) |
no MR -> candidate analysis |
| Rare hemorrhagic disorder due to a constitutional platelet anomaly |
0.564 |
— |
established (curated) |
no MR -> candidate analysis |
| osteoarthritis, hip |
0.65 |
— |
common-variant locus |
no MR -> candidate analysis |
| Umbilical hernia |
0.579 |
— |
common-variant locus |
no MR -> candidate analysis |
| medical procedure |
0.482 |
— |
common-variant locus |
no MR -> candidate analysis |
| COVID-19 |
0.479 |
— |
common-variant locus |
no MR -> candidate analysis |
| severe acute respiratory syndrome |
0.479 |
— |
common-variant locus |
no MR -> candidate analysis |
| preeclampsia |
0.419 |
— |
common-variant locus |
no MR -> candidate analysis |
| tympanic membrane disorder |
0.419 |
— |
common-variant locus |
no MR -> candidate analysis |
| spinal cord injury |
0.419 |
— |
common-variant locus |
no MR -> candidate analysis |
| tympanic membrane perforation |
0.419 |
— |
common-variant locus |
no MR -> candidate analysis |
| smoking initiation |
0.366 |
— |
common-variant locus |
no MR -> candidate analysis |
| liver disorder |
0.245 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 13 rows above, 13 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 (Ephrin type-B receptor 2) |
| gnomAD constraint |
pLI=1, LOEUF=0.277 — LoF-INTOLERANT |
| GWAS Catalog |
93 unique SNPs / 186 rows |
| ClinVar |
183 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 564 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 ‘EPHB2’ and resolved to ‘Ephrin type-B receptor 2’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 183 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 36 traits by best p-value, aggregated from 57 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/P29323 — 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/ENSG00000133216/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL3290/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/EPHB2 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/EPHB2 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=EPHB2%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/EPHB2 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T02:26:56 · 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