Protein Dossier — DSG2 (Desmoglein-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 |
| Diagnoses - main ICD10: I48 Atrial fibrillation and flutter |
0.329 |
0.0997 |
9.75e-04 |
Wald ratio |
1 |
cis |
NA |
| Intracranial volume |
2.94e+04 |
1.13e+04 |
0.00908 |
Wald ratio |
1 |
cis |
NA |
| Age at menarche |
-0.0711 |
0.0326 |
0.029 |
Wald ratio |
1 |
cis |
NA |
| Chronic kidney disease |
0.184 |
0.0889 |
0.0388 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hyperthyroidism or thyrotoxicosis |
0.268 |
0.131 |
0.0409 |
Wald ratio |
1 |
cis |
NA |
| Forced vital capacity (FVC) |
0.0242 |
0.0119 |
0.0413 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: iron deficiency anaemia |
0.288 |
0.153 |
0.0592 |
Wald ratio |
1 |
cis |
NA |
| Creatinine (enzymatic) in urine |
-0.0261 |
0.0138 |
0.0596 |
Wald ratio |
1 |
cis |
NA |
| Potassium in urine |
-0.0268 |
0.0147 |
0.0684 |
Wald ratio |
1 |
cis |
NA |
| Urinary albumin-to-creatinine ratio |
0.0652 |
0.0362 |
0.0713 |
Wald ratio |
1 |
cis |
NA |
| Neo-agreeableness |
0.692 |
0.395 |
0.0802 |
Wald ratio |
1 |
cis |
NA |
| Forced expiratory volume in 1-second (FEV1) |
0.0216 |
0.0125 |
0.0845 |
Wald ratio |
1 |
cis |
NA |
| …and 91 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-5071_3_3 |
Desmoglein-2 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
22 association rows across 16 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 |
| DSG2 protein levels |
9e-290 |
rs7227984 |
4 |
GCST90469042 |
no MR -> candidate analysis |
| Desmoglein-2 levels |
2e-50 |
rs9945420 |
2 |
GCST90247269 |
no MR -> candidate analysis |
| Cerebrospinal fluid protein DSG2 levels |
8e-48 |
rs7240824 |
1 |
GCST90944749 |
no MR -> candidate analysis |
| Desmoglein-2 (analyte X9484.75) levels |
6e-38 |
rs9945420 |
1 |
GCST90427825 |
no MR -> candidate analysis |
| Desmoglein-2 (analyte X20517.1) levels |
8e-35 |
rs9945420 |
1 |
GCST90423766 |
no MR -> candidate analysis |
| Beta-1,4-galactosyltransferase 6 levels |
4e-30 |
rs577878631 |
1 |
GCST90246641 |
no MR -> candidate analysis |
| MEP1B protein levels |
1e-17 |
rs79863376 |
1 |
GCST90469888 |
no MR -> candidate analysis |
| Serum levels of protein DSG2 |
5e-17 |
rs2704052 |
1 |
GCST90090712 |
no MR -> candidate analysis |
| Atrial fibrillation |
7e-16 |
rs2230234 |
3 |
GCST90624411 |
MR: beta=0.329, p=9.75e-04 (cis) |
| Desmoglein-2 levels (DSG2.9484.75.3) |
9e-12 |
rs2704050 |
1 |
GCST90240897 |
no MR -> candidate analysis |
| Blood protein levels |
1e-8 |
rs2212617 |
1 |
GCST006585 |
no MR -> candidate analysis |
| Gut microbiome abundance (class Tyzzerella sp. 3 (at 3 month |
4e-8 |
rs2230234 |
1 |
GCST90568516 |
no MR -> candidate analysis |
| …and 4 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 725 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 |
| arrhythmogenic right ventricular dysplasia 10 |
0.935 |
— |
established (curated) |
no MR -> candidate analysis |
| Arrhythmogenic right ventricular dysplasia |
0.852 |
— |
established (curated) |
no MR -> candidate analysis |
| dilated cardiomyopathy 1BB |
0.89 |
— |
established (curated) |
no MR -> candidate analysis |
| arrhythmogenic right ventricular cardiomyopathy |
0.897 |
— |
established (curated) |
no MR -> candidate analysis |
| familial isolated dilated cardiomyopathy |
0.525 |
— |
established (curated) |
no MR -> candidate analysis |
| Abnormality of the cardiovascular system |
0.908 |
— |
established (curated) |
no MR -> candidate analysis |
| cardiomyopathy |
0.829 |
— |
established (curated) |
no MR -> candidate analysis |
| atrial fibrillation |
0.8 |
— |
common-variant locus |
MR: beta=0.329, p=9.75e-04 (cis) |
| familial isolated arrhythmogenic right ventricular dysplasia |
0.669 |
— |
established (curated) |
no MR -> candidate analysis |
| dilated cardiomyopathy |
0.65 |
— |
established (curated) |
no MR -> candidate analysis |
| familial isolated arrhythmogenic ventricular dysplasia, biventricular form |
0.608 |
— |
established (curated) |
no MR -> candidate analysis |
| familial isolated arrhythmogenic ventricular dysplasia, left dominant form |
0.608 |
— |
established (curated) |
no MR -> candidate analysis |
| familial isolated arrhythmogenic ventricular dysplasia, right dominant form |
0.608 |
— |
established (curated) |
no MR -> candidate analysis |
| Prolonged QT interval |
0.509 |
— |
established (curated) |
no MR -> candidate analysis |
| sudden cardiac arrest |
0.438 |
— |
established (curated) |
no MR -> candidate analysis |
Of the 15 rows above, 14 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=1.3e-08, LOEUF=0.763 — LoF-tolerant |
| GWAS Catalog |
56 unique SNPs / 110 rows |
| ClinVar |
2369 records; 9 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 725 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 ‘DSG2’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 2369 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 16 of 16 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/Q14126 — 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/ENSG00000046604/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/DSG2 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/DSG2 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=DSG2%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/DSG2 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T02:20:52 · 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