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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PCDHGB4
protocadherin gamma subfamily B, 4
Chromosome 5 Β· 5q31.3
NCBI Gene: 8641Ensembl: ENSG00000253953.3HGNC: HGNC:8711UniProt: Q9UN71
12PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
plasma membranecell adhesion molecule bindingcell adhesioncalcium-dependent cell-cell adhesionneurodevelopmental disorder with poor growth and skeletal anomaliesgenetic disorderatrial flutteratrial fibrillation
✦AI Summary

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.

Sources cited
1
PCDHGB4 identified as a passenger gene in whole-exome sequencing analysis of endometrial cancer
PMID: 28339086
2
PCDHGB4 expression is downregulated in lung squamous cell carcinoma and associates with immune cell infiltration and tumor immunity pathways
PMID: 38590195
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
neurodevelopmental disorder with poor growth and skeletal anomaliesOpen Targets
0.52Moderate
genetic disorderOpen Targets
0.19Weak
atrial flutterOpen Targets
0.15Weak
atrial fibrillationOpen Targets
0.13Weak
Neurodevelopmental disorderOpen Targets
0.12Weak
ataxia telangiectasiaOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.01Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
squamous cell lung carcinomaOpen Targets
0.01Suggestive
systemic lupus erythematosusOpen Targets
0.01Suggestive
type 1 diabetes mellitusOpen Targets
0.01Suggestive
Autosomal dominant polycystic kidney diseaseOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
acute kidney injuryOpen Targets
0.00Suggestive
celiac diseaseOpen Targets
0.00Suggestive
cervical squamous intraepithelial neoplasiaOpen Targets
0.00Suggestive
endometrial cancerOpen Targets
0.00Suggestive
fibrosisOpen Targets
0.00Suggestive
vascular cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
PCDHGC3Shared pathway100%PCDH10Shared pathway75%PCDHA1Shared pathway75%PCDHA2Shared pathway75%PCDHA3Shared pathway75%PCDHA4Shared pathway75%
Tissue Expression6 tissues
Heart
100%
Ovary
100%
Liver
43%
Lung
37%
Brain
36%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
PCDHGB4PCDHGC3PCDH10PCDHA1PCDHA2PCDHA3PCDHA4
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q9UN71
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.83LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.63 [0.48–0.83]
RankingsWhere PCDHGB4 stands among ~20K protein-coding genes
  • #16,531of 20,598
    Most Researched12
  • #7,163of 17,882
    Most Constrained (LOEUF)0.83
Genes detectedPCDHGB4
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Identification of novel mutations in endometrial cancer patients by whole-exome sequencing.
PMID: 28339086
Int J Oncol Β· 2017
1.00
2
[Exploring the Role of PCDHGB4 in the Occurrence of Lung Squamous Cell Carcinoma Based on Bioinformatics Analysis].
PMID: 38590195
Zhongguo Fei Ai Za Zhi Β· 2024
0.50