CDH18: Cadherin 18 – A Neural Cell Adhesion Molecule
Comprehensive gene card for CDH18, including genomic annotation, expression, mutations, and disease associations.
Gene Information Card
| Symbol | CDH18 |
|---|---|
| Full Name | Cadherin 18 |
| Gene Type | Protein-coding |
| Chromosomal Location | 5p14.3 |
| NCBI Gene ID | 1016 ncbi.nlm.nih.gov/gene/1016 |
| Ensembl ID | ENSG00000145536 |
| UniProt ID | Q13634 |
| OMIM ID | 603019 |
| HGNC ID | 1755 |
| Aliases | CDH14, CDH18L, cadherin-14, cadherin-18 |
Description
CDH18 (cadherin 18) encodes a type II classical cadherin, a calcium-dependent cell adhesion protein predominantly expressed in the nervous system. It plays a role in neural development, synaptic plasticity, and maintenance of neuronal circuits. Mutations and altered expression have been implicated in neurodevelopmental disorders and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorders (e.g., autism spectrum disorder, intellectual disability) | Disruption of cadherin-mediated cell adhesion and signaling in developing neurons | ClinVar: multiple pathogenic/likely pathogenic variants reported |
| Schizophrenia | Altered CDH18 expression may affect synaptic connectivity | NCBI Gene: association studies |
| Epithelial ovarian cancer | Aberrant methylation and reduced expression of CDH18 | COSMIC: somatic mutations and expression changes |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | High |
| Brain (cerebellum) | 8.3 | Medium |
| Testis | 2.1 | Low |
| Heart | 0.5 | Not detected |
| Liver | 0.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.0 | Neuronal model |
| U-87 MG (glioblastoma) | 9.8 | Glial tumor line |
| HeLa (cervical carcinoma) | 0.3 | Minimal expression |
| HEK293 (embryonic kidney) | 0.1 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1873C>T (p.Arg625*) | Nonsense | <0.01% | Loss of function; truncation of cadherin repeats |
| c.2450G>A (p.Arg817Gln) | Missense | 0.02% | Altered calcium-binding affinity |
| c.1120_1122del (p.Val374del) | In-frame deletion | <0.01% | Disruption of extracellular domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to premature termination or nonsense-mediated decay.
Gain of Function (GOF)
Not reported for CDH18.
Dominant Negative (DN)
Missense variants in extracellular cadherin repeats may interfere with dimerization and adhesion.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cell adhesion molecules (CAMs) – KEGG hsa04514
• Adherens junction – KEGG hsa04520
• Wnt signaling pathway (cadherin-mediated) – Reactome R-HSA-4086400
Protein Summary
Cadherin-18 is a 790-amino acid type II classical cadherin with an extracellular domain containing 5 cadherin repeats, a single transmembrane domain, and a cytoplasmic tail that binds catenins. It mediates calcium-dependent homophilic cell adhesion and is essential for neuronal migration, axon guidance, and synapse formation. The protein is predominantly expressed in the brain and is involved in neurodevelopmental processes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDH18 Knockout HEK293 Cell Line | EDJ-KQ4244 | Human | 1016 | Details Get a Quote |
| PCDH18 Knockout HEK293 Cell Line | EDJ-KQ11446 | Human | 54510 | Details Get a Quote |
| CDH18 Knockout HeLa Cell Line | EDJ-KQ52862 | Human | 1016 | Details Get a Quote |
| PCDH18 Knockout HeLa Cell Line | EDJ-KQ56426 | Human | 54510 | Details Get a Quote |
| CDH18 Knockout A-549 Cell Line | EDJ-KQ61329 | Human | 1016 | Details Get a Quote |
| PCDH18 Knockout A-549 Cell Line | EDJ-KQ64922 | Human | 54510 | Details Get a Quote |
| CDH18 Knockout HCT 116 Cell Line | EDJ-KQ69827 | Human | 1016 | Details Get a Quote |
| PCDH18 Knockout HCT 116 Cell Line | EDJ-KQ73363 | Human | 54510 | Details Get a Quote |
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