CDHR3

Chr 7

cadherin related family member 3

Also known as: CDH28

NCBI Gene: 222256ENSG00000128536UniProt: Q6ZTQ4

Predicted to enable beta-catenin binding activity and cadherin binding activity. Predicted to be involved in several processes, including calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules; cell-cell adhesion mediated by cadherin; and cell-cell junction organization. Located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

171
ClinVar variants
17
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— CDHR3
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
17 Pathogenic / Likely Pathogenic· 127 VUS of 171 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.27LOEUF
pLI 0.000
Z-score 0.19
OE 0.97 (0.74–1.27)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.13Z-score
OE missense 1.02 (0.94–1.10)
486 obs / 478.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.97 (0.74–1.27)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.02 (0.94–1.10)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.02
0≤1.21.6
LoF obs/exp: 37 / 38.2Missense obs/exp: 486 / 478.0Syn Z: -0.26

ClinVar Variant Classifications

171 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic17
VUS127
Likely Benign24
Benign2
Conflicting1
17
Pathogenic
127
VUS
24
Likely Benign
2
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
17
0
17
Likely Pathogenic
0
0
0
0
0
VUS
1
122
4
0
127
Likely Benign
0
19
2
3
24
Benign
0
0
0
2
2
Conflicting
—1
Total1141235171

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CDHR3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Genetic characterization of preschool wheeze phenotypes.
Fischer-Rasmussen K et al.·J Allergy Clin Immunol
2025Meta-analysis
Genome-wide study of early and severe childhood asthma identifies interaction between CDHR3 and GSDMB.
Eliasen AU et al.·J Allergy Clin Immunol
2022
The role of CDHR3 in susceptibility to otitis media.
Hirsch SD et al.·J Mol Med (Berl)
2021
Viral infections in wheezing disorders.
Le Souëf P·Eur Respir Rev
2018Review
Genetic Susceptibility to Acute Viral Bronchiolitis.
Pasanen A et al.·J Infect Dis
2025
Functional genomics of CDHR3 confirms its role in HRV-C infection and childhood asthma exacerbations.
Everman JL et al.·J Allergy Clin Immunol
2019Functional
Reduced CDHR3 expression in children wheezing with rhinovirus.
Stenberg Hammar K et al.·Pediatr Allergy Immunol
2018
Genetic impact of CDHR3 on the adult onset of asthma and COPD.
Shigemasa R et al.·Clin Exp Allergy
2020
Cadherin-related Family Member 3 Genetics and Rhinovirus C Respiratory Illnesses.
Bønnelykke K et al.·Am J Respir Crit Care Med
2018
Advances in asthma 2015: Across the lifespan.
Liu AH et al.·J Allergy Clin Immunol
2016Review
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools