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GeneE
1 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PCDHGA8
protocadherin gamma subfamily A, 8
Chromosome 5 Β· 5q31.3
NCBI Gene: 9708Ensembl: ENSG00000253767.3HGNC: HGNC:8706UniProt: Q9Y5G5
15PubMed Papers
15Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cell adhesionplasma membranecell adhesion molecule bindingmembraneneurodevelopmental disorder with poor growth and skeletal anomaliesgenetic disorderNeurodevelopmental disorderatrial flutter
✦AI Summary

PCDHGA8 encodes a potential calcium-dependent cell-adhesion protein involved in establishing and maintaining specific neuronal connections in the brain. Based on limited published evidence, the gene is expressed at the plasma membrane and functions in cell adhesion through cell adhesion molecule binding. A frameshift polymorphism (Pro174fsdelC) has been identified in the gene 1, though its functional consequences remain unclear. The polymorphism showed no significant association with schizophrenia in replication studies.

Sources cited
1
Identified frameshift polymorphism (Pro174fsdelC) in PCDHGA8 and screened for association with schizophrenia; found no significant replication
PMID: 13679023
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜15
neurodevelopmental disorder with poor growth and skeletal anomaliesOpen Targets
0.52Moderate
genetic disorderOpen Targets
0.19Weak
Neurodevelopmental disorderOpen Targets
0.12Weak
atrial fibrillationOpen Targets
0.06Suggestive
atrial flutterOpen Targets
0.06Suggestive
Pick diseaseOpen Targets
0.01Suggestive
endometrial carcinomaOpen Targets
0.00Suggestive
gonorrheaOpen Targets
0.00Suggestive
Sotos syndromeOpen Targets
0.00Suggestive
nervous system diseaseOpen Targets
0.00Suggestive
ebv-positive nodal t- and nk-cell lymphomaOpen Targets
0.00Suggestive
familial pancreatic carcinomaOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
ovarian cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
PCDH10Shared pathway100%PCDHA1Shared pathway100%PCDHA2Shared pathway100%PCDHA3Shared pathway100%PCDHA4Shared pathway100%PCDHA5Shared pathway100%
Tissue Expression6 tissues
Ovary
100%
Heart
71%
Liver
61%
Brain
61%
Lung
44%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
PCDHGA8PCDH10PCDHA1PCDHA2PCDHA3PCDHA4PCDHA5
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q9Y5G5
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.90LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.70 [0.55–0.90]
RankingsWhere PCDHGA8 stands among ~20K protein-coding genes
  • #15,651of 20,598
    Most Researched15
  • #8,181of 17,882
    Most Constrained (LOEUF)0.90
Genes detectedPCDHGA8
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
Variation in the protocadherin gamma A gene cluster.
PMID: 13679023
Genomics Β· 2003
1.00