Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 4952
MIM: 300535
HGNC: 8108
Ensembl: ENSG00000122126
Variants:
dbSNP: 4952
ClinVar: 4952
TCGA: ENSG00000122126
COSMIC: OCRL
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA10204 | tenofovir | Chemical | ClinicalAnnotation | associated | PD | 25485598 | |
| PA447230 | HIV | Disease | ClinicalAnnotation | associated | PD | 25485598 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37172724 | 2023 | Oculocerebrorenal syndrome of Lowe (OCRL) controls leukemic T-cell survival by preventing excessive PI(4,5)P(2) hydrolysis in the plasma membrane. | 0 |
| 37189363 | 2023 | Heterogeneity in Lowe Syndrome: Mutations Affecting the Phosphatase Domain of OCRL1 Differ in Impact on Enzymatic Activity and Severity of Cellular Phenotypes. | 2 |
| 37172724 | 2023 | Oculocerebrorenal syndrome of Lowe (OCRL) controls leukemic T-cell survival by preventing excessive PI(4,5)P(2) hydrolysis in the plasma membrane. | 0 |
| 37189363 | 2023 | Heterogeneity in Lowe Syndrome: Mutations Affecting the Phosphatase Domain of OCRL1 Differ in Impact on Enzymatic Activity and Severity of Cellular Phenotypes. | 2 |
| 34586410 | 2022 | Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome. | 0 |
| 35919034 | 2022 | Genotype-Phenotype Correlation Reanalysis in 83 Chinese Cases with OCRL Mutations. | 1 |
| 34586410 | 2022 | Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome. | 0 |
| 35919034 | 2022 | Genotype-Phenotype Correlation Reanalysis in 83 Chinese Cases with OCRL Mutations. | 1 |
| 33517444 | 2021 | Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypes. | 3 |
| 33528045 | 2021 | Role of oculocerebrorenal syndrome of Lowe (OCRL) protein in megakaryocyte maturation, platelet production and functions: a study in patients with Lowe syndrome. | 2 |
| 33987909 | 2021 | OCRL regulates lysosome positioning and mTORC1 activity through SSX2IP-mediated microtubule anchoring. | 9 |
| 34488756 | 2021 | Novel pathogenic OCRL mutations and genotype-phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review. | 1 |
| 34680992 | 2021 | Genotype Phenotype Correlation in Dent Disease 2 and Review of the Literature: OCRL Gene Pleiotropism or Extreme Phenotypic Variability of Lowe Syndrome? | 5 |
| 34731604 | 2021 | SdhA blocks disruption of the Legionella-containing vacuole by hijacking the OCRL phosphatase. | 8 |
| 33517444 | 2021 | Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypes. | 3 |
Citation
Dessen P
OCRL (OCRL inositol polyphosphate-5-phosphatase)
Atlas Genet Cytogenet Oncol Haematol. 2006-10-01
Online version: http://atlasgeneticsoncology.org/gene/43386/ocrl
