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3 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PCDHA5
protocadherin alpha 5
Chromosome 5 · 5q31.3
NCBI Gene: 56143Ensembl: ENSG00000204965.9HGNC: HGNC:8671UniProt: Q9Y5H7
15PubMed Papers
0Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
plasma membranecell adhesioncell adhesion molecule bindingnervous system development
✦AI Summary

PCDHA5 is a calcium-dependent cell-adhesion molecule involved in establishing and maintaining neuronal connections in the brain 1. As a protocadherin family member, it functions in cell adhesion and is localized to the plasma membrane where it mediates cell-cell interactions critical for nervous system development 1. Mechanistically, PCDHA5 contributes to neuronal cell adhesion processes essential for proper brain circuit formation. Expression studies reveal that PCDHA5, along with related family members PCDHA2 and PCDHA3, is downregulated following viral infection and maternal immune activation in developing mouse brains 1. Diseases of relevance include schizophrenia, where PCDHA5 dysfunction may contribute to pathogenesis. Maternal immune activation during pregnancy downregulates schizophrenia-associated cell adhesion genes including PCDHA5 in fetal brains, linking genetic and environmental risk factors 1. Additionally, PCDHA5 has been identified as a differentially expressed gene associated with lung squamous cell carcinoma prognosis 2. Clinically, PCDHA5 may serve as a prognostic marker for lung cancer and represents a potential therapeutic target in neurodevelopmental and psychiatric disorders where neuronal connectivity is compromised. The gene's role in cell adhesion positions it as relevant for understanding both developmental and disease-related disruptions in neural circuitry.

Sources cited
1
PCDHA5 is a schizophrenia-associated cell adhesion gene downregulated following maternal immune activation and viral infection in fetal/developing brains
PMID: 34859219
2
PCDHA5 is a differentially expressed gene identified as a prognostic marker for lung squamous cell carcinoma
PMID: 31710242
⚠Limited data available — This gene has 2 indexed publications. Summary and analysis may be incomplete.
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PCDHGA8Shared pathway100%PCDHA9Shared pathway100%PCDHGA12Shared pathway100%PCDHB1Shared pathway100%PCDHGB7Shared pathway100%PCDHGB6Shared pathway100%
Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network
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PCDHA5PCDHGA8PCDHA9PCDHGA12PCDHB1PCDHGB7PCDHGB6
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9Y5H7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.87LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.67 [0.53–0.87]
RankingsWhere PCDHA5 stands among ~20K protein-coding genes
  • #15,645of 20,598
    Most Researched15
  • #7,644of 17,882
    Most Constrained (LOEUF)0.87
Genes detectedPCDHA5
Sources retrieved3 papers
Response time—
📄 Sources
3
1
Comprehensive CRISPR-Cas9 screens identify genetic determinants of drug responsiveness in multiple myeloma.
PMID: 33950175
Blood Adv · 2021
1.00
2
Maternal immune activation downregulates schizophrenia genes in the foetal mouse brain.
PMID: 34859219
Brain Commun · 2021
0.67
3
Predicting the Lung Squamous Cell Carcinoma Diagnosis and Prognosis Markers by Unique DNA Methylation and Gene Expression Profiles.
PMID: 31710242
J Comput Biol · 2020
0.33