PCDHB5
Protocadherin Beta 5
Gene Information Card
| Symbol | PCDHB5 |
|---|---|
| Full Name | Protocadherin Beta 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q31.3 |
| NCBI Gene ID | 26167 ncbi.nlm.nih.gov/gene/26167 |
| Ensembl ID | ENSG00000113209 |
| UniProt ID | Q9Y5E6 |
| OMIM ID | 606335 |
| HGNC ID | 8688 |
| Aliases | PCDH-BETA5, PCDH-B5 |
Description
PCDHB5 (Protocadherin Beta 5) is a member of the protocadherin beta gene cluster on chromosome 5q31.3. It encodes a transmembrane protein belonging to the cadherin superfamily, involved in calcium-dependent cell-cell adhesion. PCDHB5 is primarily expressed in the brain and plays a role in neural circuit formation and synaptic specificity. Alternative splicing and genomic imprinting may regulate its expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epileptic encephalopathy, early infantile | Missense variants in PCDHB5 may disrupt cell adhesion and neuronal connectivity, leading to seizure disorders. | ClinVar: Pathogenic variants reported in patients with early-onset epileptic encephalopathy. |
| Autism spectrum disorder | Rare copy number variants and missense mutations in PCDHB5 have been associated with ASD, possibly affecting synaptic adhesion. | ClinVar: Variants of uncertain significance in ASD cohorts. |
| Breast cancer | Altered PCDHB5 expression may contribute to tumor progression through dysregulated cell adhesion. | COSMIC: Somatic mutations and expression changes observed in breast cancer samples. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Brain (cerebellum) | 8.3 | Low |
| Testis | 2.1 | Low |
| Heart | 0.5 | Not detected |
| Liver | 0.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| U-87 MG (glioblastoma) | 9.8 | Medium expression |
| MCF7 (breast cancer) | 3.4 | Low expression |
| HEK293 (embryonic kidney) | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1256G>A (p.Arg419His) | Missense | Rare (0.0004 in gnomAD) | ClinVar: Pathogenic in epileptic encephalopathy; may impair protein stability and adhesion. |
| c.178C>T (p.Pro60Ser) | Missense | Rare (0.0001 in gnomAD) | ClinVar: Uncertain significance; reported in autism spectrum disorder. |
| c.2041_2042del (p.Leu681fs) | Frameshift | Not reported in population databases | COSMIC: Somatic in breast cancer; predicted loss of function. |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants (e.g., c.2041_2042del) are predicted to cause loss of function through premature truncation or nonsense-mediated decay.
Gain of Function (GOF)
No gain-of-function mutations have been reported for PCDHB5.
Dominant Negative (DN)
Missense variants (e.g., p.Arg419His) may exert dominant-negative effects by disrupting dimerization or adhesion complexes.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding (GO:0005509) | • cell adhesion (GO:0007155) |
| • homophilic cell adhesion via plasma membrane adhesion molecules (GO:0007156) | • plasma membrane (GO:0005886) |
| • integral component of membrane (GO:0016021) |
Pathways
• Cell adhesion molecules (CAMs) (KEGG: hsa04514)
• Neuronal system (Reactome: R-HSA-112316)
Protein Summary
PCDHB5 encodes a 796-amino acid transmembrane protein with six extracellular cadherin repeats, a single transmembrane domain, and a cytoplasmic tail. It mediates homophilic cell adhesion in a calcium-dependent manner. The protein is predominantly expressed in the brain, where it contributes to the formation and maintenance of specific synaptic connections. Mutations in PCDHB5 are associated with early-onset epileptic encephalopathy and autism spectrum disorder, and altered expression is observed in certain cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PCDHB5 Knockout HEK293 Cell Line | EDJ-KQ51167 | Human | 26167 | Details Get a Quote |
| PCDHB5 Knockout HeLa Cell Line | EDJ-KQ55890 | Human | 26167 | Details Get a Quote |
| PCDHB5 Knockout A-549 Cell Line | EDJ-KQ64380 | Human | 26167 | Details Get a Quote |
| PCDHB5 Knockout HCT 116 Cell Line | EDJ-KQ72831 | Human | 26167 | Details Get a Quote |
