Version: 8.0.0
Date: Tue Jan 28 2025
RIN2
Homo sapiensHGNC:18750
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

RIN2

Species
Homo sapiens
Symbol
RIN2
Name
Ras and Rab interactor 2
Synonyms
  • MACS
  • RAB5 interacting protein 2
Biotype
protein coding gene
Automated Description
Predicted to enable guanyl-nucleotide exchange factor activity and small GTPase binding activity. Involved in positive regulation of endothelial cell migration; positive regulation of endothelial cell-matrix adhesion via fibronectin; and positive regulation of vasculogenesis. Predicted to be located in cytoplasm. Predicted to be active in cytosol and endocytic vesicle.
RGD Description
The RAB5 protein is a small GTPase involved in membrane trafficking in the early endocytic pathway. The protein encoded by this gene binds the GTP-bound form of the RAB5 protein preferentially over the GDP-bound form, and functions as a guanine nucleotide exchange factor for RAB5. The encoded protein is found primarily as a tetramer in the cytoplasm and does not bind other members of the RAB family. Mutations in this gene cause macrocephaly alopecia cutis laxa and scoliosis (MACS) syndrome, an elastic tissue disorder, as well as the related connective tissue disorder, RIN2 syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR23101
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
None
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
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          RIN2 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            RIN2 role
            RIN2 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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