OCRL
Chr XXLROCRL inositol polyphosphate-5-phosphatase
Also known as: DENT2, Dent-2, LOCR, OCRL-1, OCRL1
This gene encodes an inositol polyphosphate 5-phosphatase that hydrolyzes phosphatidylinositol 4,5-bisphosphate and other phosphoinositides to regulate membrane trafficking, endosomal transport, and primary cilium formation. Mutations cause X-linked Lowe syndrome (oculocerebrorenal syndrome) and Dent disease 2, affecting the eyes, kidneys, and nervous system. The gene is highly constrained against loss-of-function variants (pLI 1.0, LOEUF 0.155) and follows X-linked recessive inheritance.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
OCRL · 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
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
RECRUITINGNational Registry of Rare Kidney Diseases
RECRUITINGExternal Resources
Links to major genomics databases and tools