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8 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PCDHA6
protocadherin alpha 6
Chromosome 5 · 5q31.3
NCBI Gene: 56142Ensembl: ENSG00000081842.18HGNC: HGNC:8672UniProt: Q9UN73
20PubMed Papers
0Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
plasma membranecell adhesioncell adhesion molecule bindingnervous system development
✦AI Summary

PCDHA6 is a calcium-dependent cell-adhesion protein belonging to the protocadherin alpha (PCDHA) gene cluster, a family of synaptic cadherins involved in neuronal connectivity 1. As a member of the cadherin-related neuronal receptor (CNR) family, PCDHA6 contains extracellular cadherin repeats and functions in establishing and maintaining specific neuronal connections 2. The protein localizes at synaptic junctions and cooperates with Fyn tyrosine kinase to mediate neuronal signaling 1. PCDHA6 expression is regulated during brain development and plays roles in neurogenesis and brain size plasticity 3. Mechanistically, PCDHA6 is downstream of DISC1 signaling in psychiatric disease models, with decreased PCDHA6 expression associated with impaired neurite outgrowth in neurons 4. Clinically, PCDHA6 variants have been implicated in short root anomaly (SRA), a dental developmental condition characterized by abnormally short tooth roots; a missense variant (c.2279C>T, p.Ser760Phe) was identified in patients with extreme SRA phenotypes, suggesting the PCDHA gene cluster contributes to tooth root development 5. Additionally, PCDHA6 expression is regulated by microRNA SNP rs1463335 in monocytes, connecting genetic variation in PCDHA6 regulation to potential disease susceptibility 6.

Sources cited
1
PCDHA6 missense variant (c.2279C>T, p.Ser760Phe) identified in patients with short root anomaly, suggesting PCDHA cluster involvement in tooth root development
PMID: 40988636
2
PCDHA6 expression is decreased in DISC1 mutant neurons and impaired neurite outgrowth phenotype suggests PCDHA6 role in neuronal development
PMID: 30410030
3
PCDHA6 implicated in neurogenesis and brain size plasticity mechanisms through differential expression in brain tissue
PMID: 41517999
4
CNR/protocadherin family are synaptic cadherins expressed in brain that cooperate with Fyn tyrosine kinase in neuronal connections
PMID: 11672833
5
Protocadherin alpha genes contain conserved extracellular cadherin repeats and have distinct expression patterns during brain development
PMID: 11401448
6
PCDHA6 expression in monocytes is regulated by miRNA SNP rs1463335, linking genetic variation to disease susceptibility
PMID: 23029284
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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PCDHA6PCDHGA8PCDHA9PCDHGA12PCDHB1PCDHGB7PCDHGB6
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9UN73
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.09LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.87 [0.69–1.09]
RankingsWhere PCDHA6 stands among ~20K protein-coding genes
  • #14,218of 20,598
    Most Researched20
  • #11,106of 17,882
    Most Constrained (LOEUF)1.09
Genes detectedPCDHA6
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
Protocadherin alpha gene cluster variants are potentially associated with short root anomaly in Japanese.
PMID: 40988636
Eur J Orthod · 2025
1.00
2
Convergence of independent DISC1 mutations on impaired neurite growth via decreased UNC5D expression.
PMID: 30410030
Transl Psychiatry · 2018
0.88
3
Genomic comparisons and the adaptive basis of brain size plasticity and chromosomal instability in the Eurasian common shrew.
PMID: 41517999
Mol Biol Evol · 2026
0.75
4
Comprehensive exploration of the effects of miRNA SNPs on monocyte gene expression.
PMID: 23029284
PLoS One · 2012
0.63
5
The cadherin-related neuronal receptor family: a novel diversified cadherin family at the synapse.
PMID: 11672833
Neurosci Res · 2001
0.50