2 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
βGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
13PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
cell adhesionsynapse organizationplasma membranecell adhesion molecule bindinggenetic disorderatrial fibrillationatrial flutteralveolar rhabdomyosarcoma
Based on limited published evidence, PCDHGC5 is a calcium-dependent cell-adhesion protein potentially involved in establishing and maintaining neuronal connections through synapse organization and cell adhesion molecule binding. UniProt annotations indicate localization to the plasma membrane. Beyond its canonical neuronal function, PCDHGC5 has been identified as a tumor-associated antigen in alveolar rhabdomyosarcoma (ARMS), showing overexpression in tumor tissues 1. Low anti-PCDHGC5 autoantibody levels independently predicted worse event-free survival in ARMS patients 1. Additionally, PCDHGC5 promoter methylation was detected in pancreatic ductal adenocarcinoma 2, suggesting potential epigenetic dysregulation in cancer.
1
PCDHGC5 is overexpressed in alveolar rhabdomyosarcoma tumors and low autoantibody levels independently predict worse event-free survival
PMID: 343677332
PCDHGC5 shows complete promoter methylation in pancreatic ductal adenocarcinoma samples
PMID: 31088413β Limited data available β This gene has 2 indexed publications. Summary and analysis may be incomplete.
genetic disorderOpen Targets
atrial fibrillationOpen Targets
atrial flutterOpen Targets
alveolar rhabdomyosarcomaOpen Targets
Alzheimer diseaseOpen Targets
embryonal rhabdomyosarcomaOpen Targets
endometrial stromal sarcomaOpen Targets
esophageal adenocarcinomaOpen Targets
ulcerative colitisOpen Targets
metastatic neoplasmOpen Targets
oropharynx cancerOpen Targets
pancreatic adenocarcinomaOpen Targets
rhabdomyosarcomaOpen Targets
tongue cancerOpen Targets
papillary thyroid carcinomaOpen Targets
schizophreniaOpen Targets
low grade gliomaOpen Targets
No pathogenic variants reported on ClinVar for this gene.