HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PCDH11X
protocadherin 11 X-linked
Chromosome X · Xq21.31
NCBI Gene: 27328Ensembl: ENSG00000102290.23HGNC: HGNC:8656UniProt: Q9BZA7
42PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cell adhesion molecule bindingplasma membranecell adhesionhomophilic cell-cell adhesionCOVID-19severe acute respiratory syndromerespiratory system diseaselung adenocarcinoma
✦AI Summary

PCDH11X encodes protocadherin 11 X-linked, a potential calcium-dependent cell adhesion protein involved in neural development and function. This gene is part of a human-specific gene pair with PCDH11Y, created approximately 6 million years ago through a reduplicative translocation, resulting in sex-specific expression patterns where females express only PCDH11X while males express both variants 1. The protein shows strong expression in fetal and adult brain regions including neocortex, ganglionic eminences, cerebellum, hippocampus, and brainstem 1. PCDH11X demonstrates replication asynchrony in most cell types, though it shifts toward synchrony in differentiated neuronal cells, suggesting specialized regulation in neural tissues 2. Recent studies implicate PCDH11X in autism spectrum disorder pathogenesis, with the gene identified among 17 X-linked genes associated with ASD through chrX-wide association analysis 3. Additionally, PCDH11X functions in trophoblast cell migration and invasion through the PI3K/Akt signaling pathway, with dysregulation linked to preeclampsia 4. The gene has also been investigated for potential roles in atherosclerosis-related smooth muscle cell function 5. However, multiple studies have failed to establish consistent associations between PCDH11X polymorphisms and late-onset Alzheimer's disease across different populations 678.

Sources cited
1
PCDH11X is part of a human-specific gene pair created 6 million years ago and shows strong brain expression
PMID: 22744706
2
PCDH11X demonstrates replication asynchrony that shifts toward synchrony in differentiated neuronal cells
PMID: 17671842
3
PCDH11X is among 17 X-linked genes associated with autism spectrum disorder
PMID: 39706197
4
PCDH11X functions in trophoblast migration/invasion via PI3K/Akt pathway and is linked to preeclampsia
PMID: 35679761
5
PCDH11X identified as a novel gene in atherosclerosis-related smooth muscle cells
PMID: 38289873
6
No association found between PCDH11X polymorphisms and late-onset Alzheimer's disease in Spanish population
PMID: 21276771
7
No association detected between PCDH11X polymorphisms and late-onset Alzheimer's disease in independent datasets
PMID: 20523261
8
No association found between PCDH11X polymorphisms and late-onset Alzheimer's disease in Han Chinese population
PMID: 20707987
Disease Associationsⓘ20
COVID-19Open Targets
0.28Weak
severe acute respiratory syndromeOpen Targets
0.28Weak
respiratory system diseaseOpen Targets
0.16Weak
lung adenocarcinomaOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
neuroblastomaOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
autismOpen Targets
0.02Suggestive
non-small cell lung carcinomaOpen Targets
0.01Suggestive
prostate cancerOpen Targets
0.01Suggestive
obesityOpen Targets
0.01Suggestive
epilepsyOpen Targets
0.01Suggestive
Rett syndromeOpen Targets
0.01Suggestive
schizophreniaOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
gastric cancerOpen Targets
0.01Suggestive
Usher syndrome type 1FOpen Targets
0.01Suggestive
membranous glomerulonephritisOpen Targets
0.01Suggestive
cervical cancerOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PCDH7Shared pathway100%CDHR4Shared pathway100%PCDH20Shared pathway100%PCDH19Shared pathway100%TGIF2LXProtein interaction94%TGIF2LYProtein interaction93%
Tissue Expression6 tissues
Brain
100%
Ovary
36%
Liver
3%
Lung
3%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
PCDH11XPCDH7CDHR4PCDH20PCDH19TGIF2LXTGIF2LY
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9BZA7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.50Moderately Constrained
pLIⓘ
0.98Intolerant
Observed/Expected LoF0.34 [0.23–0.50]
RankingsWhere PCDH11X stands among ~20K protein-coding genes
  • #9,922of 20,598
    Most Researched42
  • #3,014of 17,882
    Most Constrained (LOEUF)0.50 · top quartile
Genes detectedPCDH11X
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Chromosome X-wide common variant association study in autism spectrum disorder.
PMID: 39706197
Am J Hum Genet · 2025
1.00
2
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
0.90
3
Protocadherin 11X/Y a human-specific gene pair: an immunohistochemical survey of fetal and adult brains.
PMID: 22744706
Cereb Cortex · 2013
0.80
4
Translatome profiling reveals Itih4 as a novel smooth muscle cell-specific gene in atherosclerosis.
PMID: 38289873
Cardiovasc Res · 2024
0.70
5
SNHG22 promotes migration and invasion of trophoblasts via miR-128-3p/PCDH11X axis and activates PI3K/Akt signaling pathway.
PMID: 35679761
Clinics (Sao Paulo) · 2022
0.60