HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
3 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.
PCDHB1
protocadherin beta 1
Chromosome 5 Β· 5q31.3
NCBI Gene: 29930Ensembl: ENSG00000171815.6HGNC: HGNC:8680UniProt: Q9Y5F3
10PubMed Papers
10Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cell adhesionplasma membranecell adhesion molecule bindingmembraneneurodegenerative diseaseprostate cancerFamilial prostate canceratrial fibrillation
✦AI Summary

PCDHB1 encodes a calcium-dependent cell-adhesion protein involved in establishing and maintaining neuronal connections in the brain. As a protocadherin family member, PCDHB1 functions in cell adhesion through calcium-dependent mechanisms at the plasma membrane. PCDHB1 is transcriptionally regulated by MeCP2 (methyl-CpG-binding protein 2), which binds to upstream regulatory regions and suppresses PCDHB1 expression 1. In Rett syndrome, mutations in MECP2 lead to aberrant upregulation of PCDHB1 in affected brain tissues, suggesting that dysregulation of this neuronal adhesion molecule contributes to the neurological features of this neurodevelopmental disorder 1. Beyond neurological function, PCDHB1 is recurrently mutated in early gastric carcinoma and may be involved in early stages of gastric cancer development 2. Additionally, methylation patterns at CpG sites associated with PCDHB1 serve as epigenetic markers for age estimation in forensic applications 3. These findings indicate that PCDHB1 plays roles in both normal neuronal development through adhesion-mediated mechanisms and potentially in cancer-related cellular dysfunction when dysregulated.

Sources cited
1
PCDHB1 is an MeCP2 target gene encoding a neuronal adhesion molecule; its aberrant regulation may contribute to Rett syndrome pathogenesis
PMID: 21824415
2
PCDHB1 is recurrently mutated in early gastric carcinoma and may be involved in early carcinogenesis
PMID: 24376576
3
DNA methylation at CpG sites associated with PCDHB1 serves as an epigenetic marker for forensic age estimation
PMID: 40085291
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜10
neurodegenerative diseaseOpen Targets
0.32Weak
Familial prostate cancerOpen Targets
0.11Weak
prostate cancerOpen Targets
0.11Weak
atrial fibrillationOpen Targets
0.03Suggestive
lung carcinomaOpen Targets
0.02Suggestive
Rett syndromeOpen Targets
0.02Suggestive
neuroblastomaOpen Targets
0.01Suggestive
kidney cancerOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
PCDH10Shared pathway100%PCDHA1Shared pathway100%PCDHA2Shared pathway100%PCDHA3Shared pathway100%PCDHA4Shared pathway100%PCDHA5Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Liver
60%
Lung
55%
Ovary
48%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
PCDHB1PCDH10PCDHA1PCDHA2PCDHA3PCDHA4PCDHA5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9Y5F3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.23LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.96 [0.75–1.23]
RankingsWhere PCDHB1 stands among ~20K protein-coding genes
  • #17,137of 20,598
    Most Researched10
  • #12,966of 17,882
    Most Constrained (LOEUF)1.23
Genes detectedPCDHB1
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
The protocadherins, PCDHB1 and PCDH7, are regulated by MeCP2 in neuronal cells and brain tissues: implication for pathogenesis of Rett syndrome.
PMID: 21824415
BMC Neurosci Β· 2011
1.00
2
Exome sequencing identifies early gastric carcinoma as an early stage of advanced gastric cancer.
PMID: 24376576
PLoS One Β· 2013
0.67
3
A new robust AI/ML based model for accurate forensic age estimation using DNA methylation markers.
PMID: 40085291
Forensic Sci Med Pathol Β· 2025
0.33