OCRL Chromosome X
OCRL inositol polyphosphate-5-phosphatase
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What This Gene Does
This gene encodes an inositol polyphosphate 5-phosphatase. This protein is involved in regulating membrane trafficking and is located in numerous subcellular locations including the trans-Golgi network, clathrin-coated vesicles and, endosomes and the plasma membrane. This protein may also play a role in primary cilium formation. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
Phosphoinositide phosphatases
Locus Type
gene with protein product
Location
Xq26.1
Ensembl
ENSG00000122126
Associated Conditions (13)
Lowe syndrome
Dent disease type 2
Nephrolithiasis/nephrocalcinosis
Thyroid cancer
nonmedullary
1
Nonpapillary renal cell carcinoma
OCRL-related disorder
Developmental cataract
Genetic developmental and epileptic encephalopathy
Epilepsy
Dent disease
Neurodevelopmental delay
Key Variants
RS1000441003
Conflicting classifications of pathogenicity
Lowe syndrome, Dent disease type 2, Lowe syndrome
Health Risk
RS1038673402
Conflicting classifications of pathogenicity
Lowe syndrome, Nephrolithiasis/nephrocalcinosis, Lowe syndrome
Health Risk
RS1286748036
Conflicting classifications of pathogenicity
Lowe syndrome, Dent disease type 2, Lowe syndrome
Health Risk
RS1333937435
Conflicting classifications of pathogenicity
Lowe syndrome, Dent disease type 2, Lowe syndrome
Health Risk
RS1336177262
Conflicting classifications of pathogenicity
Lowe syndrome, Lowe syndrome
Health Risk
RS1358069294
Conflicting classifications of pathogenicity
Lowe syndrome, Lowe syndrome
Health Risk
RS1368090073
Conflicting classifications of pathogenicity
Lowe syndrome, Thyroid cancer, nonmedullary
Health Risk
RS1376122843
Conflicting classifications of pathogenicity
Nephrolithiasis/nephrocalcinosis, Lowe syndrome, Nephrolithiasis/nephrocalcinosis
Health Risk
RS137853831
Conflicting classifications of pathogenicity
Lowe syndrome, Lowe syndrome
Health Risk
RS1388273402
Conflicting classifications of pathogenicity
Dent disease type 2, Lowe syndrome, Nephrolithiasis/nephrocalcinosis
Health Risk
RS142398161
Conflicting classifications of pathogenicity
Lowe syndrome, Nephrolithiasis/nephrocalcinosis, Dent disease type 2
Health Risk
RS1437975458
Conflicting classifications of pathogenicity
Lowe syndrome, Nephrolithiasis/nephrocalcinosis, Lowe syndrome
Health Risk
All Variants (159)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS886039519 | Health Risk | Pathogenic | Lowe syndrome, Lowe syndrome |
| RS886041880 | Health Risk | Pathogenic | — |
| RS935956958 | Health Risk | Pathogenic | Lowe syndrome, Lowe syndrome |
| RS1569458883 | Health Risk | Pathogenic/Likely pathogenic | Lowe syndrome, Dent disease type 2, Lowe syndrome |
| RS1936163310 | Health Risk | Pathogenic/Likely pathogenic | Lowe syndrome, Dent disease type 2, Thyroid cancer |
| RS2124405779 | Health Risk | Pathogenic/Likely pathogenic | Lowe syndrome, Dent disease type 2, OCRL-related disorder |
| RS2124419087 | Health Risk | Pathogenic/Likely pathogenic | Lowe syndrome, Dent disease type 2, Lowe syndrome |
| RS2124430527 | Health Risk | Pathogenic/Likely pathogenic | Lowe syndrome, Lowe syndrome, Thyroid cancer |
| RS776743373 | Health Risk | Pathogenic/Likely pathogenic | Lowe syndrome, Dent disease type 2, Neurodevelopmental delay |