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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PCDH11Y
protocadherin 11 Y-linked
Chromosome Y · Yp11.2
NCBI Gene: 83259Ensembl: ENSG00000099715.15HGNC: HGNC:15813UniProt: A0A8V8TP37
37PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cell adhesion molecule bindingplasma membranecell adhesionhomophilic cell-cell adhesioncentral nervous system cancerataxia telangiectasiaBarrett's esophagusglioblastoma multiforme
✦AI Summary

PCDH11Y is a Y-linked protocadherin and calcium-dependent cell adhesion molecule 1 that is unique to humans and hominoids, arising from a gene duplication event approximately 6 million years ago 2. Primary functions include mediating cell adhesion and regulating excitatory neuron development in the central nervous system 3. The gene exists in three isoforms (11Ya, 11Yb, 11Yc) with distinct expression patterns 4. Mechanistically, PCDH11Y mediates Wnt signaling pathways critical for cell differentiation 4 and is upregulated by retinoic acid signaling during spermatogonial differentiation 4. Expression is predominantly localized to the cerebral cortex, hippocampal formation, and cerebellum during both fetal and adult development 2. The gene shows differential spatial distribution between X and Y homologs in the developing male CNS, suggesting specialized functions in male brain development 5. Disease relevance includes associations with male fertility, where PCDH11Yb expression in germ cells correlates with fertility status; absent or reduced expression is observed in infertile men 4. While initially implicated in psychiatric disorders and Alzheimer's disease susceptibility, subsequent studies found no significant associations with autism spectrum disorders, ADHD, bipolar disorder, obsessive-compulsive disorder, schizophrenia 1, or late-onset Alzheimer's disease 6. However, recent meta-analyses identified PCDH11Y as a potential AD biomarker with upregulated expression in patient populations 7.

Sources cited
1
PCDH11Y expression in brain cortex; calcium-dependent cell adhesion molecule function; human-specific gene; polymorphism analysis in psychiatric disorders
PMID: 16331680
2
PCDH11Y arose 6 million years ago as hominoid-specific gene; δ1-protocadherin family member; accelerated evolution in humans; temporal and spatial expression in fetal and adult brain regions
PMID: 22744706
3
Three PCDH11Y isoforms; retinoic acid upregulation; essential for spermatogonial differentiation and meiosis initiation; Wnt signaling mediation; PCDH11Yb expression correlates with male fertility
PMID: 28241900
4
PCDH11Y regulates excitatory neurons; Y chromosome brain-specific gene; expressed during early fetal brain development; implicated in language development
PMID: 40281071
5
No association between PCDH11Y polymorphisms and autism spectrum disorders, ADHD, bipolar disorder, OCD, or schizophrenia
PMID: 16331680
6
No association between PCDH11Y polymorphisms and late-onset Alzheimer's disease
PMID: 21276771
7
PCDH11Y identified as upregulated differentially expressed gene in Alzheimer's disease patients; potential biomarker
PMID: 39433822
8
Spatial sexual dimorphism of PCDH11X/Y expression in developing male CNS; differential distribution patterns in neuronal and glial cell populations
PMID: 26759715
9
PCDH11Y replication asynchrony properties; located in non-pseudoautosomal homologous region Xq21.3/Yp11.2
PMID: 17671842
Disease Associationsⓘ20
central nervous system cancerOpen Targets
0.04Suggestive
ataxia telangiectasiaOpen Targets
0.03Suggestive
Barrett's esophagusOpen Targets
0.03Suggestive
glioblastoma multiformeOpen Targets
0.02Suggestive
prostate cancerOpen Targets
0.01Suggestive
psychiatric disorderOpen Targets
0.01Suggestive
infertilityOpen Targets
0.01Suggestive
psychosisOpen Targets
0.00Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
neuroblastomaOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
autismOpen Targets
0.00Suggestive
acute graft versus host diseaseOpen Targets
0.00Suggestive
ulcerative colitisOpen Targets
0.00Suggestive
amelogenesis imperfectaOpen Targets
0.00Suggestive
bipolar disorderOpen Targets
0.00Suggestive
Delayed speech and language developmentOpen Targets
0.00Suggestive
glioblastomaOpen Targets
0.00Suggestive
schizophreniaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PCDH7Shared pathway100%PCDH19Shared pathway100%PCDH20Shared pathway100%CDHR4Shared pathway100%TSPY1Protein interaction92%TBL1YProtein interaction92%
Tissue Expression6 tissues
Ovary
100%
Liver
87%
Brain
80%
Lung
73%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
PCDH11YPCDH7PCDH19PCDH20CDHR4TSPY1TBL1Y
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q70LR4
View on AlphaFold ↗
RankingsWhere PCDH11Y stands among ~20K protein-coding genes
  • #10,663of 20,598
    Most Researched37
Genes detectedPCDH11Y
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Replication profile of PCDH11X and PCDH11Y, a gene pair located in the non-pseudoautosomal homologous region Xq21.3/Yp11.2.
PMID: 17671842
Chromosome Res · 2007
1.00
2
Expression and genetic variability of PCDH11Y, a gene specific to Homo sapiens and candidate for susceptibility to psychiatric disorders.
PMID: 16331680
Am J Med Genet B Neuropsychiatr Genet · 2006
0.90
3
Expression of protocadherin 11Yb (PCDH11Yb) in seminal germ cells is correlated with fertility status in men.
PMID: 28241900
Reprod Fertil Dev · 2017
0.80
4
Protocadherin 11X/Y a human-specific gene pair: an immunohistochemical survey of fetal and adult brains.
PMID: 22744706
Cereb Cortex · 2013
0.70
5
Transcriptomic sex differences in early human fetal brain development.
PMID: 40281071
Commun Biol · 2025
0.60