Version: 8.0.0
Date: Tue Jan 28 2025
Col4a2
Mus musculusMGI:88455
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Col4a2

Species
Mus musculus
Symbol
Col4a2
Name
collagen, type IV, alpha 2
Synonyms
  • AU019502
  • Col4a-2
Biotype
protein coding gene
Automated Description
Predicted to enable molecular adaptor activity. Predicted to be an extracellular matrix structural constituent conferring tensile strength. Involved in DNA-templated transcription and cellular response to transforming growth factor beta stimulus. Acts upstream of or within collagen-activated tyrosine kinase receptor signaling pathway. Located in basement membrane. Part of collagen type IV trimer. Is expressed in several structures, including blastocyst; eye; genitourinary system; lung; and oral region epithelium. Human ortholog(s) of this gene implicated in atherosclerosis; brain small vessel disease 2; porencephaly; and uterine fibroid. Orthologous to human COL4A2 (collagen type IV alpha 2 chain).
MGI Description
PHENOTYPE: ENU-induced missense mutations of this gene result in a variable phenotype affecting the eye, brain and vascular stability in heterozygotes, and fetal or postnatal survival in homozygotes. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR24023
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
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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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      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

          Col4a2 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            Col4a2 role
            Col4a2 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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