Version: 8.0.0
Date: Tue Jan 28 2025
Fam83h
Mus musculusMGI:2145900
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Fam83h

Species
Mus musculus
Symbol
Fam83h
Name
family with sequence similarity 83, member H
Synonyms
  • AA409316
  • expressed sequence AA409316
Biotype
protein coding gene
Automated Description
Predicted to enable keratin filament binding activity and protein kinase binding activity. Predicted to be involved in several processes, including intermediate filament cytoskeleton organization; positive regulation of cell migration; and protein localization to cytoskeleton. Predicted to be located in cytoplasm. Predicted to colocalize with keratin filament. Is expressed in lower jaw and tooth. Human ortholog(s) of this gene implicated in amelogenesis imperfecta type 3A. Orthologous to human FAM83H (family with sequence similarity 83 member H).
MGI Description
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body size, sparse and scruffy coat, scaly skin, weakness, hypoactivity, delayed incisor eruption, periodontal pockets around incisors and molars with inserted coat hairs, partial postnatal lethality and premature death. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR16181
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
References
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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
    Evidence
    Source
    Based On
    References
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      Alleles and Variants

      Allele/Variant Symbol
      Allele Synonyms
      Category
      Variant
      Variant type
      Molecular consequence
      Has Disease Annotations
      Has Phenotype Annotations
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        Download all Alleles/Variants for all genes of the species

        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
            75.874M75.876M75.878M75.880M75.882M75.884M75.886M

            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

            Fam83h molecule type
            Interactor gene
            Interactor species
            Interactor molecule type
            Detection methods
            Source
            Reference
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              Genetic Interactions

              Fam83h role
              Fam83h genetic perturbation
              Interactor gene
              Interactor species
              Interactor role
              Interactor genetic perturbation
              Interaction type
              Phenotype or trait
              Source
              Reference
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