HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PCDHA1
protocadherin alpha 1
Chromosome 5 · 5q31.3
NCBI Gene: 56147Ensembl: ENSG00000204970.10HGNC: HGNC:8663UniProt: Q9Y5I3
20PubMed Papers
0Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
plasma membranecell adhesioncell adhesion molecule bindingnervous system development
✦AI Summary

PCDHA1 (protocadherin alpha 1) is a calcium-dependent cell-adhesion molecule involved in establishing and maintaining specific neuronal connections in the brain 1. As part of the clustered protocadherin-alpha gene family, PCDHA1 undergoes dual regulatory expression patterns in cerebellar Purkinje cells, with individual neurons randomly expressing different combinations of Pcdha1-12 while constitutively expressing 3' genes 1. The protein plays critical roles in axonal projection, learning, and memory functions 1. PCDHA1 is implicated in neurodevelopmental disorders: de novo disruptive variants were identified as novel candidates in autism spectrum disorder and intellectual disability cases 2, and rare pathological variants were found in polymicrogyria, a cortical malformation disorder 3. Beyond neurodevelopment, PCDHA1 mutations appear relevant to cancer biology, including gastric cancer where clonal mutations were identified in Latino patients 4, and breast cancer where specific PCDHA1 mutations correlated with pathological response to neoadjuvant chemotherapy 5. DNA methylation levels at PCDHA1 loci showed correlation with gene expression in prostate cancer tissues 6. These findings suggest PCDHA1's role extends from neuronal cell adhesion and neural development to potential oncological significance, warranting further investigation of its mechanisms across diverse biological contexts.

Sources cited
1
PCDHA1 is a clustered protocadherin-alpha gene expressed in vertebrate brain, involved in axonal projection, learning and memory; demonstrates dual expression patterns in Purkinje cells with random and constitutive regulation
PMID: 19797050
2
De novo disruptive variant in PCDHA1 identified as novel candidate gene for autism spectrum disorder and intellectual disability
PMID: 34948243
3
Rare pathological PCDHA1 variants identified in polymicrogyria case with involvement in Wnt signaling regulation
PMID: 39717325
4
PCDHA1 identified as new candidate gastric cancer driver with clonal mutations in Latino patients
PMID: 36970058
5
PCDHA1 mutations found predominantly in triple-negative breast cancer patients achieving pathological complete response to chemotherapy
PMID: 34173924
6
DNA methylation levels at PCDHA1 loci correlate with gene expression in prostate cancer tissues
PMID: 41310996
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
Click a node to explore
PCDHA1PCDHGA8PCDHA9PCDHGA12PCDHB1PCDHGB7PCDHGB6
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9Y5I3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.85LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.66 [0.51–0.85]
RankingsWhere PCDHA1 stands among ~20K protein-coding genes
  • #14,215of 20,598
    Most Researched20
  • #7,365of 17,882
    Most Constrained (LOEUF)0.85
Genes detectedPCDHA1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing.
PMID: 34948243
Int J Mol Sci · 2021
1.00
2
Multiregional Sequencing Analysis Reveals Extensive Genetic Heterogeneity in Gastric Tumors from Latinos.
PMID: 36970058
Cancer Res Commun · 2022
0.90
3
Total expression and dual gene-regulatory mechanisms maintained in deletions and duplications of the Pcdha cluster.
PMID: 19797050
J Biol Chem · 2009
0.80
4
Identification and Prognostic Value Exploration of Cyclophosphamide (Cytoxan)-Centered Chemotherapy Response-Associated Genes in Breast Cancer.
PMID: 34704810
DNA Cell Biol · 2021
0.70
5
FZD7 drives in vitro aggressiveness in Stem-A subtype of ovarian cancer via regulation of non-canonical Wnt/PCP pathway.
PMID: 25032869
Cell Death Dis · 2014
0.60