PCDHGC5 Gene - Protocadherin Gamma Subfamily C, 5
Comprehensive genomic and functional analysis of PCDHGC5, a member of the protocadherin gamma cluster involved in neuronal development and cell adhesion.
Gene Information Card
| Symbol | PCDHGC5 |
|---|---|
| Full Name | Protocadherin Gamma Subfamily C, 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q31.3 |
| NCBI Gene ID | 56102 ncbi.nlm.nih.gov/gene/56102 |
| Ensembl ID | ENSG00000164171 |
| UniProt ID | Q9Y5F3 |
| OMIM ID | 606299 |
| HGNC ID | 8669 |
| Aliases | PCDH-GAMMA-C5, PCDHGC5 |
Description
PCDHGC5 (Protocadherin Gamma Subfamily C, 5) is a protein-coding gene located on chromosome 5q31.3. It belongs to the protocadherin gamma gene cluster, which encodes transmembrane proteins involved in calcium-dependent cell-cell adhesion. PCDHGC5 is primarily expressed in the nervous system and plays a role in neuronal development, synaptic specificity, and neural circuit formation. The gene is part of the larger protocadherin family that mediates homophilic and heterophilic interactions critical for brain development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorders | Altered cell adhesion and synaptic connectivity due to PCDHGC5 dysregulation | Limited; inferred from protocadherin cluster studies (OMIM #606299) |
| Epilepsy | Potential involvement in neuronal excitability via adhesion defects | Case reports and association studies (ClinVar) |
| Autism spectrum disorder | Disrupted protocadherin-mediated neuronal wiring | Genome-wide association studies (GWAS) and rare variant analyses |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | High |
| Cerebellum | 10.2 | High |
| Spinal cord | 8.1 | Medium |
| Testis | 3.4 | Low |
| Heart | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | High expression |
| U-87 MG (glioblastoma) | 9.8 | Medium expression |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
| HeLa (cervical carcinoma) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; truncated protein |
| c.567G>A (p.Val189Met) | Missense | 0.02% | Unknown; predicted benign |
| c.890_891insA (p.Glu297fs) | Frameshift | <0.01% | Loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg412*, p.Glu297fs) lead to truncated or absent protein, impairing cell adhesion.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported for PCDHGC5.
Dominant Negative (DN)
No evidence of dominant-negative effects; protocadherins typically function in cis and trans interactions.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cell adhesion molecules (CAMs) - KEGG hsa04514
• Neuronal system - Reactome R-HSA-112316
Protein Summary
PCDHGC5 encodes a protocadherin gamma subfamily C member 5 protein, a single-pass transmembrane protein with extracellular cadherin repeats and a cytoplasmic domain. It mediates calcium-dependent homophilic cell adhesion, particularly in neurons, contributing to synaptic organization and neural circuit assembly. The protein is localized to the plasma membrane and is essential for proper brain development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PCDHGC5 Knockout HEK293 Cell Line | EDJ-KQ51487 | Human | 56097 | Details Get a Quote |
| PCDHGC5 Knockout HeLa Cell Line | EDJ-KQ56664 | Human | 56097 | Details Get a Quote |
| PCDHGC5 Knockout A-549 Cell Line | EDJ-KQ65170 | Human | 56097 | Details Get a Quote |
| PCDHGC5 Knockout HCT 116 Cell Line | EDJ-KQ73608 | Human | 56097 | Details Get a Quote |
