Version: 8.0.0
Date: Tue Jan 28 2025
Ocrl
Mus musculusMGI:109589
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Ocrl

Species
Mus musculus
Symbol
Ocrl
Name
OCRL, inositol polyphosphate-5-phosphatase
Synonyms
  • 9530014D17Rik
  • BB143339
Biotype
protein coding gene
Automated Description
Enables phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. Acts upstream of or within in utero embryonic development and phosphatidylinositol dephosphorylation. Predicted to be located in several cellular components, including cytoplasmic vesicle; photoreceptor outer segment; and trans-Golgi network. Predicted to be active in cytoplasm; membrane; and neuron projection. Is expressed in several structures, including genitourinary system; liver; maxillary process; musculature; and spleen. Human ortholog(s) of this gene implicated in Dent disease 2 and oculocerebrorenal syndrome. Orthologous to human OCRL (OCRL inositol polyphosphate-5-phosphatase).
MGI Description
PHENOTYPE: Homozygous null mice do not develop and of the abnormalities associated with oculocerebrorenal syndrome of Lowe. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11200
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
Other Sources
Phenotype Term
Annotation details
References
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
    Has Disease Annotations
    Has Phenotype Annotations
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
      Has Disease Annotations
      Has Phenotype Annotations
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
        Source
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCm39
          Viewer Help
          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          Ocrl molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            Ocrl role
            Ocrl genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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