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25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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OCRL
OCRL inositol polyphosphate-5-phosphatase
Chromosome X Β· Xq26.1
NCBI Gene: 4952Ensembl: ENSG00000122126.19HGNC: HGNC:8108UniProt: A0A2X0TVZ9
172PubMed Papers
22Diseases
0Drugs
148Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleusphotoreceptor outer segmentplasma membraneinositol phosphate phosphatase activityoculocerebrorenal syndromeDent disease type 2Dent diseasenephrolithiasis
✦AI Summary

OCRL is an inositol polyphosphate 5-phosphatase encoded on chromosome X that catalyzes hydrolysis of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol-3,4,5-bisphosphate 1. This enzyme preferentially acts on PtdIns(4,5)P2 and also hydrolyzes inositol 1,4,5-trisphosphate and inositol 1,3,4,5-tetrakisphosphate. OCRL localizes to the trans-Golgi network and regulates phosphoinositide pools at endosomes, playing critical roles in endosomal trafficking, primary cilia assembly, and phagocytosis by attenuating PI3K signaling 2. OCRL mutations cause two X-linked renal diseases: Lowe syndrome (oculocerebrorenal), a severe multisystem disorder characterized by congenital cataracts, central hypotonia, intellectual disability, and renal Fanconi syndrome 3, and the milder Dent disease 2, manifesting primarily as proximal tubule dysfunction with proteinuria, hypercalciuria, and nephrolithiasis 4. The kidney is particularly vulnerable to OCRL loss because it depends strictly on phosphoinositide-regulated processes including cell polarization, filtration, and solute reabsorption 5. Understanding OCRL's role in phosphoinositide homeostasis along the endolysosomal pathway is fundamental to developing treatments for these conditions 2.

Sources cited
1
OCRL is an inositol 5-phosphatase that preferentially hydrolyzes PI(4,5)P2
PMID: 40618840
2
OCRL acts on phosphoinositides to regulate intracellular trafficking and phosphoinositide balance along the endolysosomal pathway
PMID: 28669993
3
OCRL mutations cause Lowe syndrome, a multisystem disorder affecting eyes, nervous system, and kidneys with congenital cataracts, hypotonia, and renal Fanconi syndrome
PMID: 16722554
4
OCRL mutations cause Dent disease 2, characterized by renal tubular dysfunction including proteinuria, hypercalciuria, and nephrolithiasis
PMID: 20946626
5
The kidney depends strictly on phosphoinositides for cell polarization, filtration, and solute reabsorption
PMID: 30314999
Disease Associationsβ“˜22
oculocerebrorenal syndromeOpen Targets
0.86Strong
Dent disease type 2Open Targets
0.81Strong
Dent diseaseOpen Targets
0.69Moderate
nephrolithiasisOpen Targets
0.45Moderate
nephrocalcinosisOpen Targets
0.45Moderate
Neurodevelopmental delayOpen Targets
0.27Weak
amino acid metabolism diseaseOpen Targets
0.20Weak
neurodegenerative diseaseOpen Targets
0.14Weak
genetic developmental and epileptic encephalopathyOpen Targets
0.12Weak
intellectual developmental disorder, autosomal dominant 65Open Targets
0.12Weak
Developmental cataractOpen Targets
0.11Weak
early-onset non-syndromic cataractOpen Targets
0.11Weak
acute lymphoblastic leukemiaOpen Targets
0.08Suggestive
Alzheimer diseaseOpen Targets
0.07Suggestive
DiarrheaOpen Targets
0.05Suggestive
response to darapladibOpen Targets
0.05Suggestive
Leigh syndromeOpen Targets
0.03Suggestive
cystOpen Targets
0.03Suggestive
glaucomaOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.01Suggestive
Dent disease 2UniProt
Lowe oculocerebrorenal syndromeUniProt
Pathogenic Variants148
NM_000276.4(OCRL):c.1477C>T (p.Arg493Trp)Pathogenic
Dent disease type 2|Lowe syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 493
NM_000276.4(OCRL):c.2530C>T (p.Arg844Ter)Pathogenic
Lowe syndrome|not provided|Dent disease type 2;Lowe syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 844
NM_000276.4(OCRL):c.560+1G>CPathogenic
Lowe syndrome|Dent disease type 2;Lowe syndrome
β˜…β˜…β˜†β˜†2025
NM_000276.4(OCRL):c.952C>T (p.Arg318Cys)Pathogenic
Dent disease type 2|Lowe syndrome|not provided|OCRL-related disorder|Dent disease type 2;Lowe syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 318
NM_000276.4(OCRL):c.1000C>T (p.Arg334Ter)Pathogenic
Lowe syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 334
NM_000276.4(OCRL):c.260del (p.Gln87fs)Pathogenic
OCRL-related disorder|Dent disease type 2
β˜…β˜…β˜†β˜†2025β†’ Residue 87
NM_000276.4(OCRL):c.1925_1926del (p.Ser642fs)Pathogenic
Lowe syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 642
NM_000276.4(OCRL):c.1987C>T (p.Arg663Ter)Pathogenic
Lowe syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 663
NM_000276.4(OCRL):c.1621C>T (p.Arg541Ter)Pathogenic
Lowe syndrome|Nephrolithiasis/nephrocalcinosis|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 541
NM_000276.4(OCRL):c.1498C>T (p.Arg500Ter)Pathogenic
Lowe syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 500
NM_000276.4(OCRL):c.2083C>T (p.Arg695Ter)Pathogenic
Lowe syndrome|Dent disease type 2;Lowe syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 695
NM_000276.4(OCRL):c.953G>A (p.Arg318His)Pathogenic
Lowe syndrome|Lowe syndrome;Dent disease type 2|OCRL-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 318
NM_000276.4(OCRL):c.2360_2361del (p.Val787fs)Pathogenic
not provided|Lowe syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 787
NM_000276.4(OCRL):c.940-11G>APathogenic
not provided|Dent disease type 2;Lowe syndrome|Dent disease type 2|Lowe syndrome|Neurodevelopmental delay
β˜…β˜…β˜†β˜†2024
NM_000276.4(OCRL):c.2309_2312del (p.Asp770fs)Pathogenic
Lowe syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 770
NM_000276.4(OCRL):c.2581G>A (p.Ala861Thr)Pathogenic
Lowe syndrome|Thyroid cancer, nonmedullary, 1|Nonpapillary renal cell carcinoma
β˜…β˜…β˜†β˜†2024β†’ Residue 861
NM_000276.4(OCRL):c.2464C>T (p.Arg822Ter)Pathogenic
Lowe syndrome|Dent disease type 2|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 822
NM_000276.4(OCRL):c.2428C>T (p.Arg810Ter)Pathogenic
not provided|Lowe syndrome|Dent disease type 2;Lowe syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 810
NM_000276.4(OCRL):c.1499G>A (p.Arg500Gln)Pathogenic
Lowe syndrome|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 500
NM_000276.4(OCRL):c.1442_1443del (p.Asp480_Ser481insTer)Pathogenic
Lowe syndrome|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 480
View on ClinVar β†—
Related Genes
PIK3CBProtein interaction100%APPL1Protein interaction100%RAB8AProtein interaction100%PTENProtein interaction95%PIK3R2Protein interaction95%RAB35Protein interaction95%
Tissue Expression6 tissues
Ovary
100%
Brain
94%
Bone Marrow
78%
Liver
58%
Heart
38%
Lung
35%
Gene Interaction Network
Click a node to explore
OCRLPIK3CBAPPL1RAB8APTENPIK3R2RAB35
PROTEIN STRUCTURE
Preparing viewer…
PDB3QBT Β· 2.00 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.18Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.10 [0.06–0.18]
RankingsWhere OCRL stands among ~20K protein-coding genes
  • #2,568of 20,598
    Most Researched172 Β· top quartile
  • #512of 5,498
    Most Pathogenic Variants148 Β· top 10%
  • #349of 17,882
    Most Constrained (LOEUF)0.18 Β· top 5%
Genes detectedOCRL
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
The inositol 5-phosphatases OCRL and INPP5B: Cellular functions and roles in disease.
PMID: 40618840
Biochim Biophys Acta Mol Cell Biol Lipids Β· 2025
1.00
2
PMID: 20301653
0.90
3
Phosphoinositides in the kidney.
PMID: 30314999
J Lipid Res Β· 2019
0.80
4
PMID: 22876375
0.70
5
OCRL regulates lysosome positioning and mTORC1 activity through SSX2IP-mediated microtubule anchoring.
PMID: 33987909
EMBO Rep Β· 2021
0.64