PTPRD
Chr 9protein tyrosine phosphatase receptor type D
Also known as: HPTP, HPTPD, HPTPDELTA, PTPD, R-PTP-delta, RPTPDELTA
This receptor-type protein tyrosine phosphatase regulates synaptic differentiation and neuronal axon guidance through trans-synaptic interactions. Mutations cause neurodevelopmental disorders with intellectual disability and restless legs syndrome, inherited in an autosomal dominant pattern. The gene is extremely constrained against loss-of-function variants, indicating that complete loss of protein function is likely incompatible with normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PTPRD · 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