2 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
βGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
12PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
plasma membranecell adhesion molecule bindingcell adhesioncalcium-dependent cell-cell adhesionneurodevelopmental disorder with poor growth and skeletal anomaliesgenetic disorderatrial flutteratrial fibrillation
Based on limited published evidence, PCDHGB4 is a calcium-dependent cell-adhesion protein potentially involved in establishing and maintaining neuronal connections. UniProt annotations indicate roles in cell adhesion and calcium-dependent cell-cell adhesion at the plasma membrane. In cancer contexts, PCDHGB4 has been identified as a passenger gene in endometrial cancer 1 and shows altered expression in lung squamous cell carcinoma with associations to immune cell infiltration and tumor immunity pathways 2. However, direct functional studies of PCDHGB4 remain limited.
1
PCDHGB4 identified as a passenger gene in whole-exome sequencing analysis of endometrial cancer
PMID: 283390862
PCDHGB4 expression is downregulated in lung squamous cell carcinoma and associates with immune cell infiltration and tumor immunity pathways
PMID: 38590195β Limited data available β This gene has 2 indexed publications. Summary and analysis may be incomplete.
neurodevelopmental disorder with poor growth and skeletal anomaliesOpen Targets
genetic disorderOpen Targets
atrial flutterOpen Targets
atrial fibrillationOpen Targets
Neurodevelopmental disorderOpen Targets
ataxia telangiectasiaOpen Targets
glioblastoma multiformeOpen Targets
squamous cell lung carcinomaOpen Targets
systemic lupus erythematosusOpen Targets
type 1 diabetes mellitusOpen Targets
Autosomal dominant polycystic kidney diseaseOpen Targets
Alzheimer diseaseOpen Targets
acute kidney injuryOpen Targets
celiac diseaseOpen Targets
cervical squamous intraepithelial neoplasiaOpen Targets
endometrial cancerOpen Targets
vascular cancerOpen Targets
No pathogenic variants reported on ClinVar for this gene.