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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CDH18
cadherin 18
Chromosome 5 · 5p14.3
NCBI Gene: 1016Ensembl: ENSG00000145526.12HGNC: HGNC:1757UniProt: D6RER2
20PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cell-cell adhesion mediated by cadherinadherens junctioncell morphogenesiscell-cell junction assemblyalcohol drinkingDermatochalasissmoking initiationkidney transplant
✦AI Summary

CDH18 (cadherin 18) is a calcium-dependent cell adhesion protein that mediates homophilic cell-cell interactions and contributes to cell sorting through adherens junction formation and organization 1. As a classical cadherin, CDH18 participates in beta-catenin binding and catenin complex formation, facilitating calcium-dependent cell-cell adhesion and cell-cell junction assembly [UniProt annotation]. The protein is involved in fundamental cellular processes including cell migration, cell morphogenesis, and plasma membrane localization. CDH18 has demonstrated relevance in reproductive biology, where it is expressed in normal testicular tissue. Studies of azoospermic (non-fertile) testes revealed abnormal Sertoli-germ cell tight junctions accompanied by downregulation of CDH18 expression in 37.5% of azoospermic samples 2, suggesting CDH18 dysfunction may contribute to male infertility through disrupted spermatogenesis. Genome-wide association studies have linked CDH18 to neuropsychiatric disorders including bipolar disease and schizophrenia 1, implicating CDH18 in neural circuit development and synaptic function. The gene's role in brain development, neuronal migration, and synapse formation suggests that CDH18 dysfunction may alter neural connectivity in psychiatric disease. However, disease-causing mutations specific to CDH18 have not yet been definitively established, distinguishing it from other cadherins like PCDH19 with confirmed pathogenic variants.

Sources cited
1
CDH18 is associated with bipolar disease and schizophrenia; cadherins regulate neural circuit formation, synapse formation, and are involved in neuropsychiatric disease pathogenesis
PMID: 22765916
2
CDH18 expression is downregulated in azoospermic human testis tissue with abnormal Sertoli-germ cell tight junctions, suggesting involvement in male fertility
PMID: 20180417
⚠Limited data available — This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.39Weak
DermatochalasisOpen Targets
0.37Weak
smoking initiationOpen Targets
0.35Weak
kidney transplantOpen Targets
0.31Weak
upper extremity fractureOpen Targets
0.28Weak
short-term memoryOpen Targets
0.28Weak
retinal degenerationOpen Targets
0.28Weak
poisoningOpen Targets
0.28Weak
joint diseaseOpen Targets
0.24Weak
keratoconjunctivitisOpen Targets
0.24Weak
ovarian neoplasmOpen Targets
0.24Weak
neurodegenerative diseaseOpen Targets
0.23Weak
response to antibioticOpen Targets
0.23Weak
chondrocalcinosisOpen Targets
0.21Weak
premature birthOpen Targets
0.21Weak
headache disorderOpen Targets
0.20Weak
leprosyOpen Targets
0.20Weak
COVID-19Open Targets
0.20Weak
crystal arthropathyOpen Targets
0.19Weak
HypocalcemiaOpen Targets
0.19Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CDH4Shared pathway100%CDH22Shared pathway100%CDH24Shared pathway100%CDH26Shared pathway100%CTNNA2Protein interaction94%CDH8Shared pathway90%
Tissue Expression6 tissues
Brain
100%
Liver
3%
Ovary
2%
Lung
1%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
CDH18CDH4CDH22CDH24CDH26CTNNA2CDH8
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q13634
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.74LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.53 [0.39–0.74]
RankingsWhere CDH18 stands among ~20K protein-coding genes
  • #14,125of 20,598
    Most Researched20
  • #5,777of 17,882
    Most Constrained (LOEUF)0.74
Genes detectedCDH18
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Vimseltinib versus placebo for tenosynovial giant cell tumour (MOTION): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
PMID: 38843860
Lancet · 2024
1.00
2
Epithelioid hemangioendothelioma, an ultra-rare cancer: a consensus paper from the community of experts.
PMID: 34090171
ESMO Open · 2021
0.90
3
Avapritinib Versus Regorafenib in Locally Advanced Unresectable or Metastatic GI Stromal Tumor: A Randomized, Open-Label Phase III Study.
PMID: 34343033
J Clin Oncol · 2021
0.80
4
Histology-Specific Clinical Trial of Lenvatinib and Pembrolizumab in Patients with Sarcoma.
PMID: 39405335
Clin Cancer Res · 2024
0.70
5
[Expressions of cadherin molecules CDH18 and PCDH17 in human azoospermic testes].
PMID: 20180417
Zhonghua Nan Ke Xue · 2009
0.60