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5 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PCDHA2
protocadherin alpha 2
Chromosome 5 · 5q31.3
NCBI Gene: 56146Ensembl: ENSG00000204969.7HGNC: HGNC:8668UniProt: Q9Y5H9
20PubMed Papers
0Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingplasma membranecell adhesion molecule bindingcell adhesion
✦AI Summary

PCDHA2 (protocadherin alpha 2) is a calcium-dependent cell adhesion molecule involved in establishing and maintaining neuronal connections. As a member of the protocadherin family, it mediates protein-protein interactions at the plasma membrane and plays roles in nervous system development 1. Mechanistically, PCDHA2 functions as a neuronal cell adhesion gene critical for proper brain circuitry formation. Its expression is sensitive to environmental perturbations; maternal immune activation during pregnancy downregulates PCDHA2 alongside other schizophrenia-associated cell adhesion genes in fetal mouse brains, particularly affecting cortical excitatory neurons and inhibitory interneurons 1. Clinically, PCDHA2 has emerged as a disease-relevant biomarker across multiple pathologies. In thyroid cancer, PCDHA2 was identified as a high-risk lipid metabolism-related gene associated with poor overall survival and serves as an independent prognostic factor 2. In hepatocellular carcinoma, PCDHA2 was identified within a TPX2-related ceRNA regulatory network affecting HCC prognosis 3. In melanoma, PCDHA2 harbors missense mutations associated with increased lung metastatic potential, and its expression levels predict patient survival 4. Additionally, PCDHA2 expression is modulated by RBL2/p130 tumor suppressor inactivation in Burkitt lymphoma 5, suggesting roles in cancer cell growth regulation.

Sources cited
1
PCDHA2 is a schizophrenia-associated cell adhesion gene downregulated following maternal immune activation in fetal mouse brain and herpes simplex virus 1 infection of neuronal precursor cells
PMID: 34859219
2
PCDHA2 is a high-risk lipid metabolism-related gene independently associated with poor overall survival in thyroid cancer
PMID: 36586126
3
PCDHA2 is part of a TPX2-related ceRNA regulatory network involved in HBV-infected hepatocellular carcinoma prognosis
PMID: 36204642
4
PCDHA2 harbors missense mutations associated with increased lung metastatic potential in UV-induced melanoma, and its expression predicts patient survival
PMID: 34433909
5
PCDHA2 expression is modulated by RBL2/p130 tumor suppressor in Burkitt lymphoma cells and primary tumors
PMID: 17485552
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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PCDHA2PCDHGA8PCDHA9PCDHGA12PCDHB1PCDHGB7PCDHGB6
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9Y5H9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.05LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.85 [0.69–1.05]
RankingsWhere PCDHA2 stands among ~20K protein-coding genes
  • #14,216of 20,598
    Most Researched20
  • #10,572of 17,882
    Most Constrained (LOEUF)1.05
Genes detectedPCDHA2
Sources retrieved5 papers
Response time—
📄 Sources
5
1
Maternal immune activation downregulates schizophrenia genes in the foetal mouse brain.
PMID: 34859219
Brain Commun · 2021
1.00
2
Construction and evaluation of a prognosis prediction model for thyroid carcinoma based on lipid metabolism-related genes.
PMID: 36586126
Neuro Endocrinol Lett · 2022
0.80
3
Comprehensive analysis of a TPX2-related TRHDE-AS1/PKIA ceRNA network involving prognostic signatures in Hepatitis B virus-infected hepatocellular carcinoma.
PMID: 36204642
Front Cell Infect Microbiol · 2022
0.60
4
Comprehensive molecular profiling of UV-induced metastatic melanoma in Nme1/Nme2-deficient mice reveals novel markers of survival in human patients.
PMID: 34433909
Oncogene · 2021
0.40
5
Gene-expression analysis identifies novel RBL2/p130 target genes in endemic Burkitt lymphoma cell lines and primary tumors.
PMID: 17485552
Blood · 2007
0.20