Version: 8.0.0
Date: Tue Jan 28 2025
Tmem67
Mus musculusMGI:1923928
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Tmem67

Species
Mus musculus
Symbol
Tmem67
Name
transmembrane protein 67
Synonyms
  • 5330408M12Rik
  • b2b1163.1Clo
Biotype
protein coding gene
Automated Description
Predicted to enable filamin binding activity; misfolded protein binding activity; and unfolded protein binding activity. Involved in several processes, including epithelial tube branching involved in lung morphogenesis; negative regulation of centrosome duplication; and non-canonical Wnt signaling pathway. Acts upstream of or within determination of left/right symmetry; heart development; and kidney development. Located in cytoplasmic vesicle membrane and endoplasmic reticulum membrane. Part of MKS complex. Is expressed in diencephalon; hindbrain lateral wall; metanephros; and organ of Corti. Used to study Joubert syndrome 6; Meckel syndrome; cystic kidney disease; and visceral heterotaxy. Human ortholog(s) of this gene implicated in several diseases, including Bardet-Biedl syndrome (multiple); COACH syndrome; Joubert syndrome 6; Meckel syndrome 3; and nephronophthisis (multiple). Orthologous to human TMEM67 (transmembrane protein 67).
MGI Description
PHENOTYPE: Mice homozygous for a targeted allele exhibit neonatal/postanal lethality, kidney cysts, and Meckel-Gruber or Joubert syndrome-like phenotypes depending on the filial generation of the backcross to C57BL/6J. Mice homozygous for an ENU-induced allele exhibit cardiovascular defects and cystic kidney. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR21274
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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        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
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        Has Phenotype Annotations
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          Models

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

            Genome location
            Assembly version
            GRCm39
            Viewer Help
            12.040M12.045M12.050M12.055M12.060M12.065M12.070M12.075M12.080M12.085M12.090M

            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

            Tmem67 molecule type
            Interactor gene
            Interactor species
            Interactor molecule type
            Detection methods
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              Genetic Interactions

              Tmem67 role
              Tmem67 genetic perturbation
              Interactor gene
              Interactor species
              Interactor role
              Interactor genetic perturbation
              Interaction type
              Phenotype or trait
              Source
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