PCDH10
Protocadherin-10, a member of the protocadherin family involved in cell adhesion and neural development
Gene Information Card
| Symbol | PCDH10 |
|---|---|
| Full Name | Protocadherin-10 |
| Gene Type | Protein-coding |
| Chromosomal Location | 4q28.3 |
| NCBI Gene ID | 57575 ncbi.nlm.nih.gov/gene/57575 |
| Ensembl ID | ENSG00000138650 |
| UniProt ID | Q9P2E7 |
| OMIM ID | 609284 |
| HGNC ID | 8682 |
| Aliases | KIAA1400, PCDH19, OL-PCDH |
Description
PCDH10 encodes protocadherin-10, a member of the protocadherin family of calcium-dependent cell adhesion molecules. It is predominantly expressed in the brain and plays critical roles in neural circuit formation, synaptic plasticity, and axon guidance. PCDH10 is also implicated as a tumor suppressor in various cancers, where its expression is frequently silenced by promoter hypermethylation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism spectrum disorder | Altered synaptic adhesion and neural connectivity; rare variants and copy number variations | PMID: 19118816, ClinVar |
| Schizophrenia | Disrupted neuronal migration and synaptic function; association with risk haplotypes | PMID: 21743477 |
| Hepatocellular carcinoma | Tumor suppressor silencing via promoter hypermethylation leading to increased cell proliferation | PMID: 21947006, COSMIC |
| Colorectal cancer | Loss of PCDH10 expression due to methylation promotes invasion and metastasis | PMID: 23093420 |
| Breast cancer | Hypermethylation-mediated downregulation associated with poor prognosis | PMID: 24820476 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 32.5 | High |
| Brain (cerebellum) | 28.1 | High |
| Testis | 6.2 | Medium |
| Lung | 1.8 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 45.3 | High expression |
| HepG2 (hepatocellular carcinoma) | 0.8 | Low (methylated) |
| MCF7 (breast cancer) | 1.2 | Low (methylated) |
| HEK293 (embryonic kidney) | 3.5 | Medium |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% (rare) | Loss of function; truncation of cadherin repeats |
| c.567_568del (p.Leu190fs) | Frameshift | <0.1% | Loss of function; premature stop |
| c.2345G>A (p.Arg782His) | Missense | 0.2% | Unknown; possibly damaging (PolyPhen-2) |
| Promoter hypermethylation | Epigenetic silencing | Frequent in tumors | Loss of expression; tumor suppressor inactivation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay; promoter hypermethylation causing transcriptional silencing.
Gain of Function (GOF)
Not reported for PCDH10.
Dominant Negative (DN)
Not established; potential for missense variants disrupting cadherin interactions.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cell adhesion molecules (CAMs) (KEGG: hsa04514)
• Neuronal system (Reactome: R-HSA-112316)
Protein Summary
Protocadherin-10 is a single-pass transmembrane protein with six extracellular cadherin repeats, a transmembrane domain, and a cytoplasmic tail. It mediates calcium-dependent homophilic cell adhesion and is essential for neuronal connectivity. The protein is localized to the plasma membrane and synapses. Loss of PCDH10 expression via genetic mutation or epigenetic silencing contributes to neurodevelopmental disorders and cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PCDH10 Knockout HEK293 Cell Line | EDJ-KQ14699 | Human | 57575 | Details Get a Quote |
| PCDH10 Knockout HeLa Cell Line | EDJ-KQ56871 | Human | 57575 | Details Get a Quote |
| PCDH10 Knockout A-549 Cell Line | EDJ-KQ65385 | Human | 57575 | Details Get a Quote |
| PCDH10 Knockout HCT 116 Cell Line | EDJ-KQ73822 | Human | 57575 | Details Get a Quote |
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