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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CDH15
cadherin 15
Chromosome 16 · 16q24.3
NCBI Gene: 1013Ensembl: ENSG00000129910.9HGNC: HGNC:1754UniProt: P55291
29PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
plasma membraneextracellular exosomeprotein bindingcell morphogenesisintellectual disability, autosomal dominant 3Varicose veinsautosomal dominant non-syndromic intellectual disabilityRare genetic intellectual disability with developmental anomaly
✦AI Summary

CDH15 (cadherin 15) is a calcium-dependent cell adhesion molecule that mediates homophilic cell-cell interactions and plays critical roles in neural development and synaptic function 1. As a member of the cadherin superfamily, CDH15 regulates neural tube regionalization, neuronal migration, spine morphology, and synapse formation 1. The protein functions through calcium-dependent adhesive mechanisms and interacts with catenin complexes at adherens junctions to facilitate cell-cell junction assembly and organization. CDH15 variants have been associated with intellectual disability and neurodevelopmental disorders. In vivo studies demonstrate that CDH15 mutations adversely affect its ability to mediate cell-cell adhesion in neurons 2. Genome-wide association studies link CDH15 to cognitive impairment and autism spectrum disorder 1. Recent proteomic studies identify CDH15 as a potential biomarker for seizure activity, with significantly altered plasma levels in patients with recent seizures compared to seizure-free individuals 3. Additionally, CDH15 has emerged as a candidate circulating protein biomarker and potential therapeutic target for interstitial lung disease and sarcoidosis 4, and shows associations with neuroinflammatory processes in multiple sclerosis 5. Its role in cell adhesion and neural circuit integrity positions CDH15 as therapeutically relevant for neurodevelopmental and neurological conditions.

Sources cited
1
CDH15 regulates neural development including neural tube regionalization, neuronal migration, spine morphology, and synapse formation; associated with cognitive impairment and autism
PMID: 22765916
2
CDH15 variants disrupt cell-cell adhesion in neuronal cells and are associated with intellectual disability
PMID: 19012874
3
CDH15 plasma levels significantly differ between recent seizure and seizure-free patient groups, suggesting role as seizure biomarker
PMID: 37862918
4
CDH15 identified as priority circulating protein biomarker and potential therapeutic target for interstitial lung disease and sarcoidosis
PMID: 39824903
5
CDH15 associated with node of Ranvier and dorsal root ganglion in multiple sclerosis pathogenesis
PMID: 40037332
6
CDH15 shows sex-differential genetic regulation with opposite effect directions between sexes
PMID: 40360480
Disease Associationsⓘ21
intellectual disability, autosomal dominant 3Open Targets
0.50Moderate
Varicose veinsOpen Targets
0.37Weak
autosomal dominant non-syndromic intellectual disabilityOpen Targets
0.37Weak
Rare genetic intellectual disability with developmental anomalyOpen Targets
0.37Weak
COVID-19Open Targets
0.28Weak
Alzheimer diseaseOpen Targets
0.25Weak
obesityOpen Targets
0.24Weak
Intellectual disabilityOpen Targets
0.17Weak
type 2 diabetes mellitusOpen Targets
0.15Weak
2q23.1 microdeletion syndromeOpen Targets
0.12Weak
Von Willebrand disease type 1Open Targets
0.12Weak
Abnormality of the skeletal systemOpen Targets
0.08Suggestive
melanomaOpen Targets
0.05Suggestive
response to xenobiotic stimulusOpen Targets
0.05Suggestive
hypertensionOpen Targets
0.05Suggestive
interstitial lung diseaseOpen Targets
0.04Suggestive
infectionOpen Targets
0.03Suggestive
actinic keratosisOpen Targets
0.03Suggestive
sudden infant death syndromeOpen Targets
0.03Suggestive
hepatocellular carcinomaOpen Targets
0.03Suggestive
Intellectual developmental disorder, autosomal dominant 3UniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CDH4Shared pathway100%CDH22Shared pathway100%CDH24Shared pathway100%CDH26Shared pathway100%CTNND1Protein interaction100%CTNNB1Protein interaction100%
Tissue Expression6 tissues
Lung
100%
Liver
93%
Ovary
42%
Brain
10%
Heart
5%
Bone Marrow
5%
Gene Interaction Network
Click a node to explore
CDH15CDH4CDH22CDH24CDH26CTNND1CTNNB1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P55291
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.41LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.16 [0.96–1.41]
RankingsWhere CDH15 stands among ~20K protein-coding genes
  • #12,117of 20,598
    Most Researched29
  • #14,577of 17,882
    Most Constrained (LOEUF)1.41
Genes detectedCDH15
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Mendelian randomization identifies proteins involved in neurodegenerative diseases.
PMID: 40037332
Brain · 2025
1.00
2
Cadherins and neuropsychiatric disorders.
PMID: 22765916
Brain Res · 2012
0.90
3
KBG syndrome: report and follow-up on three unrelated patients observed at different ages.
PMID: 39985057
Ital J Pediatr · 2025
0.80
4
A potential role for the
PMID: 31854260
Pharmacogenomics · 2020
0.70
5
Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability.
PMID: 19012874
Am J Hum Genet · 2008
0.60