Gene

Pdzd8

Species
Mus musculus
Symbol
Pdzd8
Name
PDZ domain containing 8
Synonyms
  • A630041P07Rik
  • AV329468
Biotype
protein coding gene
Automated Description
Predicted to enable lipid binding activity and metal ion binding activity. Involved in mitochondrial calcium ion homeostasis and mitochondrion-endoplasmic reticulum membrane tethering. Located in endoplasmic reticulum membrane and mitochondria-associated endoplasmic reticulum membrane contact site. Is expressed in several structures, including central nervous system; genitourinary system; gut; hemolymphoid system; and retina nuclear layer. Orthologous to human PDZD8 (PDZ domain containing 8).
MGI Description
PHENOTYPE: Mice homozygous for a null allele exhibit preweaning lethality, decreased body weight, reduced brain volume, altered brain structures, increased vertical stereotypic behavior, decreased anxiety-related response, reduced long term spatial reference memory, reduced long term potentiation, and decreased paired-pulse facilitation [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR21519
No data available
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
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    Gene
    Association
    Disease Qualifier
    Disease
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      Alleles and Variants

      Allele/Variant Symbol
      Allele Synonyms
      Category
      Variant
      Variant type
      Molecular consequence
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        Transgenic Alleles

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

          Model name
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          Associated Human Diseases
          Associated Phenotypes
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            Sequence Feature Viewer

            Genome location
            Assembly version
            GRCm39
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            59.290M59.295M59.300M59.305M59.310M59.315M59.320M59.325M59.330M

            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

            Pdzd8 molecule type
            Interactor gene
            Interactor species
            Interactor molecule type
            Detection methods
            Source
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              Genetic Interactions

              Pdzd8 role
              Pdzd8 genetic perturbation
              Interactor gene
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              Interactor role
              Interactor genetic perturbation
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              Phenotype or trait
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