PCDH18
Protocadherin 18: A Cell Adhesion Molecule Implicated in Neural Development and Cancer
Gene Information Card
| Symbol | PCDH18 |
|---|---|
| Full Name | Protocadherin 18 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q31.22 |
| NCBI Gene ID | 54510 ncbi.nlm.nih.gov/gene/54510 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q9HCL0 |
| OMIM ID | 608861 |
| HGNC ID | 14268 |
| Aliases | PCDH18L, PCDH18S, protocadherin 18 |
Description
PCDH18 (protocadherin 18) is a member of the protocadherin family of calcium-dependent cell adhesion molecules. It is primarily expressed in the nervous system and plays a role in neural development, cell-cell adhesion, and signal transduction. Alterations in PCDH18 expression have been linked to various cancers and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glioma | Downregulation of PCDH18 may promote tumor cell migration and invasion | PMID: 25605248 |
| Colorectal Cancer | Hypermethylation of PCDH18 promoter leads to reduced expression, associated with poor prognosis | PMID: 28411376 |
| Autism Spectrum Disorder | Rare variants in PCDH18 have been identified in ASD cohorts, suggesting involvement in synaptic adhesion | PMID: 22542183 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Cerebellum | 10.2 | Medium |
| Spinal cord | 8.9 | Low |
| Testis | 6.1 | Low |
| Lung | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.4 | Neuronal model |
| U87MG (glioblastoma) | 8.2 | Glioma cell line |
| HEK293 (embryonic kidney) | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.1% | Unknown; found in ASD cohort |
| c.567delG (p.Glu189fs) | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of protein function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • cell adhesion |
| • homophilic cell adhesion via plasma membrane adhesion molecules | • plasma membrane |
| • integral component of membrane |
Pathways
• Cell adhesion molecules (CAMs)
• Cadherin signaling pathway
Protein Summary
The PCDH18 protein is a single-pass transmembrane protocadherin with extracellular cadherin repeats, a transmembrane domain, and a cytoplasmic tail. It mediates calcium-dependent cell-cell adhesion and may interact with intracellular signaling pathways. Its expression is enriched in neural tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PCDH18 Knockout HEK293 Cell Line | EDJ-KQ11446 | Human | 54510 | Details Get a Quote |
| PCDH18 Knockout HeLa Cell Line | EDJ-KQ56426 | Human | 54510 | Details Get a Quote |
| PCDH18 Knockout A-549 Cell Line | EDJ-KQ64922 | Human | 54510 | Details Get a Quote |
| PCDH18 Knockout HCT 116 Cell Line | EDJ-KQ73363 | Human | 54510 | Details Get a Quote |
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