CDH2

Chr 18

cadherin 2

Also known as: ACOGS, ADHD8, ARVD14, CD325, CDHN, CDw325, NCAD

NCBI Gene: 1000ENSG00000170558UniProt: P19022

This gene encodes a classical cadherin and member of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein is proteolytically processed to generate a calcium-dependent cell adhesion molecule and glycoprotein. This protein plays a role in the establishment of left-right asymmetry, development of the nervous system and the formation of cartilage and bone. [provided by RefSeq, Nov 2015]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtArrhythmogenic right ventricular dysplasia, familial, 14
UniProtAgenesis of corpus callosum, cardiac, ocular, and genital syndrome
UniProtAttention deficit-hyperactivity disorder 8

Clinical highlights

Gene-disease validity (ClinGen)
arrhythmogenic right ventricular cardiomyopathy · ADLimitednot for standalone diagnostic reporting3 gene-disease associations curated in total
Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.
2
Active trials
143
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.29
LOEUF· LoF intol.
LOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.29LOEUF
pLI 0.992
Z-score 5.05
OE 0.15 (0.08–0.29)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
2.09Z-score
OE missense 0.74 (0.68–0.81)
376 obs / 508.9 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.15 (0.08–0.29)
0≤0.351.4
Missense OE?0.74 (0.68–0.81)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 6 / 40.8Missense obs/exp: 376 / 508.9Syn Z: 0.17

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CDH2 · protein map & ClinVar variants

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

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients