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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PCDHGB7
protocadherin gamma subfamily B, 7
Chromosome 5 · 5q31.3
NCBI Gene: 56099Ensembl: ENSG00000254122.3HGNC: HGNC:8714UniProt: Q9Y5F8
13PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cell adhesionplasma membranecell adhesion molecule bindingmembraneneurodevelopmental disorder with poor growth and skeletal anomaliesgenetic disorderNeurodevelopmental disorderlung cancer
✦AI Summary

PCDHGB7 (protocadherin gamma subfamily B, 7) is a calcium-dependent cell-adhesion protein involved in establishing and maintaining neuronal connections [UniProt]. While its primary neurobiological function remains characterized, PCDHGB7 has emerged as a significant epigenetic biomarker across multiple cancer types. In lung cancer, PCDHGB7 expression is downregulated and correlates with poor prognosis; notably, plasma PCDHGB7 methylation and protein levels predict immunotherapy response in non-small cell lung cancer 1. In breast cancer, PCDHGB7 promoter hypermethylation occurs frequently and serves as a diagnostic biomarker with high sensitivity and specificity 23. Functionally, PCDHGB7 increases chemosensitivity to carboplatin in triple-negative breast cancer by negatively regulating HSPA9, thereby promoting P53 translocation and caspase-3-mediated apoptosis 4. PCDHGB7 hypermethylation appears as a cancer-universal methylation marker in cell-free DNA of malignant body fluids 5 and is particularly valuable in cervical cancer screening, where PCDHGB7-based methylation detection effectively triages high-risk HPV-positive women with superior sensitivity and specificity compared to cytology 67. These findings position PCDHGB7 as a multi-functional tumor suppressor with dual roles in chemosensitivity and immunological regulation.

Sources cited
1
PCDHGB7 expression is downregulated in lung cancer, associates with prognosis, and plasma PCDHGB7 methylation and protein levels predict immunotherapy response
PMID: 39949775
2
PCDHGB7 promoter hypermethylation occurs frequently in breast cancer tissues and serves as a diagnostic biomarker with significant sensitivity and specificity
PMID: 31198475
3
PCDHGB7 increases chemosensitivity of triple-negative breast cancer cells to carboplatin by inhibiting HSPA9 and inducing apoptosis via P53 translocation and caspase-3 activation
PMID: 31379979
4
PCDHGB7 is identified as a cancer-universal methylation marker in cell-free DNA of malignant body fluids with elevated sensitivity and specificity
PMID: 38587071
5
PCDHGB7 hypermethylation-based detection effectively triages high-risk HPV-positive women for cervical cancer with superior performance to cytology
PMID: 38317152
6
PCDHGB7 is frequently hypermethylated in non-Hodgkin's lymphomas with methylation patterns serving as epigenetic biomarkers
PMID: 16774933
7
PCDHGB7 promoter methylation in serum cfDNA contributes to a six-gene panel for breast cancer diagnosis with high sensitivity and specificity
PMID: 26918343
8
PCDHGB7 is part of validated triple-target methylation panels for detecting cervical precancers and cancers in high-risk HPV-positive women with superior performance to traditional triage strategies
PMID: 40750892
Disease Associationsⓘ20
neurodevelopmental disorder with poor growth and skeletal anomaliesOpen Targets
0.52Moderate
genetic disorderOpen Targets
0.19Weak
Neurodevelopmental disorderOpen Targets
0.12Weak
lung cancerOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.07Suggestive
ulcerative colitisOpen Targets
0.06Suggestive
atrial flutterOpen Targets
0.05Suggestive
breast cancerOpen Targets
0.05Suggestive
atrial fibrillationOpen Targets
0.04Suggestive
triple-negative breast cancerOpen Targets
0.03Suggestive
non-small cell lung carcinomaOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
lung adenocarcinomaOpen Targets
0.03Suggestive
mitochondrial DNA depletion syndrome 4aOpen Targets
0.02Suggestive
endometrial cancerOpen Targets
0.02Suggestive
Barrett's esophagusOpen Targets
0.01Suggestive
cervical cancerOpen Targets
0.01Suggestive
squamous cell lung carcinomaOpen Targets
0.01Suggestive
ataxia telangiectasiaOpen Targets
0.01Suggestive
type 2 diabetes mellitusOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PCDH10Shared pathway100%PCDHA1Shared pathway100%PCDHA2Shared pathway100%PCDHA3Shared pathway100%PCDHA4Shared pathway100%PCDHA5Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Heart
100%
Ovary
99%
Lung
58%
Liver
15%
Bone Marrow
6%
Gene Interaction Network
Click a node to explore
PCDHGB7PCDH10PCDHA1PCDHA2PCDHA3PCDHA4PCDHA5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9Y5F8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.71LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.53 [0.41–0.71]
RankingsWhere PCDHGB7 stands among ~20K protein-coding genes
  • #16,254of 20,598
    Most Researched13
  • #5,463of 17,882
    Most Constrained (LOEUF)0.71
Genes detectedPCDHGB7
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Deregulated methylation and expression of
PMID: 39949775
Front Immunol · 2025
1.00
2
DNA Methylation Profiles and Their Diagnostic Utility in BC.
PMID: 31198475
Dis Markers · 2019
0.90
3
PCDHGB7 inhibits the progression of triple-negative breast cancer by suppressing XRCC5/MYC-mediated ribosome biogenesis.
PMID: 40898765
Clin Transl Med · 2025
0.80
4
Discovery of novel epigenetic markers in non-Hodgkin's lymphoma.
PMID: 16774933
Carcinogenesis · 2007
0.70
5
PCDHGB7 Increases Chemosensitivity to Carboplatin by Inhibiting HSPA9 via Inducing Apoptosis in Breast Cancer.
PMID: 31379979
Dis Markers · 2019
0.60