PCDH9
Chr 13protocadherin 9
This gene encodes protocadherin-9, a calcium-dependent cell adhesion protein that mediates cell adhesion in neural tissues and may function in signaling at neuronal synaptic junctions. Mutations cause neurodevelopmental disorders with intellectual disability, and the gene shows autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants, reflecting its critical role in nervous system development and function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
243 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 63 | 0 | 63 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 127 | 23 | 0 | 150 |
Likely Benign | 0 | 5 | 5 | 3 | 13 |
Benign | 0 | 0 | 5 | 2 | 7 |
Conflicting | — | 1 | |||
| Total | 0 | 132 | 96 | 5 | 234 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PCDH9 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools