PCDH12
Chr 5ARprotocadherin 12
Also known as: DMJDS1, VE-cadherin-2, VECAD2
PCDH12 encodes protocadherin-12, a cellular adhesion molecule that regulates cell-cell interactions and cell migration through calcium-dependent homotypic aggregation at intercellular junctions. Biallelic mutations cause diencephalic-mesencephalic junction dysplasia syndrome 1, an autosomal recessive disorder affecting brainstem development. The gene shows no significant constraint against loss-of-function variants (pLI near zero, LOEUF 0.98), consistent with the recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PCDH12 · 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