OCRL Gene: Lowe Syndrome and Renal Function
Comprehensive guide to the OCRL gene, its associated diseases, expression, mutations, and protein function.
Gene Information Card
| Symbol | OCRL |
|---|---|
| Full Name | OCRL inositol polyphosphate-5-phosphatase |
| Gene Type | protein-coding |
| Chromosomal Location | Xq26.1 |
| NCBI Gene ID | 4952 ncbi.nlm.nih.gov/gene/4952 |
| Ensembl ID | ENSG00000122126 |
| UniProt ID | Q01968 |
| OMIM ID | 300535 |
| HGNC ID | 8108 |
| Aliases | OCRL1, INPP5F, Lowe oculocerebrorenal syndrome protein |
Description
The OCRL gene encodes an inositol polyphosphate-5-phosphatase that dephosphorylates phosphatidylinositol 4,5-bisphosphate (PIP2) to phosphatidylinositol 4-phosphate (PI4P). This enzyme is involved in intracellular trafficking, actin cytoskeleton regulation, and ciliary function. Mutations in OCRL cause Lowe syndrome (oculocerebrorenal syndrome) and Dent disease 2, characterized by renal Fanconi syndrome, cataracts, and neurological abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lowe syndrome (Oculocerebrorenal syndrome) | Loss-of-function mutations lead to defective PIP2 metabolism, impairing vesicular trafficking and actin dynamics in kidney, eye, and brain. | OMIM #309000; ClinVar |
| Dent disease 2 | Mutations cause proximal tubular dysfunction due to altered endosomal trafficking and receptor-mediated endocytosis. | OMIM #300555; ClinVar |
| Nephrolithiasis | Impaired phosphate reabsorption and hypercalciuria due to tubular dysfunction. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.3 | Medium |
| Brain | 8.5 | Low |
| Eye | 6.2 | Low |
| Liver | 4.1 | Low |
| Testis | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 10.5 | Moderate |
| A549 | 7.8 | Low |
| MCF7 | 5.3 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2581C>T (p.Arg861Ter) | Nonsense | Rare | Truncated protein, loss of function |
| c.1549C>T (p.Arg517Ter) | Nonsense | Rare | Truncated protein, loss of function |
| c.2635A>G (p.Thr879Ala) | Missense | Rare | Impaired catalytic activity |
| c.2222G>A (p.Arg741His) | Missense | Rare | Reduced PIP2 phosphatase activity |
Mutation functional classification
Loss of Function (LOF)
Most OCRL mutations are loss-of-function, leading to reduced PIP2 dephosphorylation and disrupted cellular processes.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not applicable; OCRL is X-linked and typically manifests in males with hemizygous mutations.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidylinositol-4 | • 5-bisphosphate 5-phosphatase activity |
| • phosphatidylinositol binding | • clathrin binding |
| • Golgi apparatus | • early endosome |
| • cilium | • actin cytoskeleton organization |
| • phosphatidylinositol dephosphorylation |
Pathways
• Phosphatidylinositol phosphate metabolism
• Endocytosis
• Actin cytoskeleton regulation
• Ciliary function
Protein Summary
The OCRL protein is a 901-amino acid inositol polyphosphate-5-phosphatase with an N-terminal PH domain, a central 5-phosphatase domain, and C-terminal RhoGAP and SH3-binding domains. It localizes to the Golgi, endosomes, and cilia, regulating PIP2 levels. Defects cause Lowe syndrome and Dent disease 2.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OCRL Knockout HEK293 Cell Line | EDJ-KQ1653 | Human | 4952 | Details Get a Quote |
| OCRL Knockout A-549 Cell Line | EDJ-KQ21397 | Human | 4952 | Details Get a Quote |
| OCRL Knockout HCT 116 Cell Line | EDJ-KQ21398 | Human | 4952 | Details Get a Quote |
| OCRL Knockout HeLa Cell Line | EDJ-KQ21399 | Human | 4952 | Details Get a Quote |
| OCRL（p.E468G） Point Mutation in A-549 Cell Line | EDC03186 | Human | 4952 | Details Get a Quote |
| OCRL Knock-in HK-2 Cell Line | EDC90201 | Human | 4952 | Details Get a Quote |
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