FB2026_03 , released September 17, 2026
Human Disease Model Report: cancer, intestinal dysplasia, UVRAG-related
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General Information
Name
cancer, intestinal dysplasia, UVRAG-related
FlyBase ID
FBhh0000860
Disease Ontology Term
Parent Disease
OMIM
Overview

In humans, there is evidence that loss of the gene UVRAG contributes to the development of some forms of colorectal cancer. UVRAG (UV radiation resistance-associated gene) encodes a protein involved in regulation of different cellular pathways implicated in membrane trafficking; it has been shown to promote autophagy via interaction with the Beclin1-PI(3)KC3 complex. There is a single orthologous gene in Drosophila, Dmel\Uvrag, for which RNAi-targeting constructs, alleles caused by insertional mutagenesis, and loss-of-function alleles caused by imprecise excision of TE insertion(s) have been generated.

The human UVRAG gene has not been introduced into flies.

Animals homozygous for loss-of-function mutations of Uvrag die during the larval stage. Somatic clones in later stages exhibit neuroanatomy defects. Targeted knockdown of Uvrag in adult intestinal stem cells via RNAi results in overproliferation and impaired differentiation of the cells, without preventing autophagy. Other phenotypes observed include cell shape changes, gut dysfunction, and shortened lifespan. A small number of genetic and physical interactions of Dmel\Uvrag have been described; see below and in the Uvrag gene report.

Experiments in Drosophila suggest that it is endocytic function of Uvrag/UVRAG, not the autophagic function, that is important for preventing intestinal dysplasia.

[updated Jul. 2018 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: cancer, intestinal dysplasia, UVRAG-related
OMIM report
Human gene(s) implicated
Symptoms and phenotype
Genetics

In humans, there is evidence that loss of the gene UVRAG contributes to the development of some forms of colorectal cancer (FBrf0232241 and references cited therein).

Cellular phenotype and pathology
Molecular information

UVRAG encodes a protein with a C2 domain that is involved in regulation of different cellular pathways implicated in membrane trafficking; it activates the Beclin1-PI(3)KC3 complex, promoting autophagy. UVRAG complements the ultraviolet sensitivity of xeroderma pigmentosum group C cells. [Gene Cards, UVRAG; 2018.07.25]

External links
Disease synonyms
intestinal dysplasia, UVRAG-related
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    D. melanogaster ortholog (based on DIOPT)
    Comments on ortholog(s)

    One to one: 1 human to 1 Drosophila.

    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (1)
      Gene Snapshot
      UV-resistance associated gene (Uvrag) encodes a protein that regulates autophagy and vesicle trafficking with the product of Atg6 and class C vacuolar protein sorting complexes. With the products of Atg6 and Pi3K59F, It forms a PI3K(III) complex and plays roles in receptor downregulation and the establishment of proper cell polarity. It is also critical for proper organ rotation during development by controlling receptor endocytosis and subsequent degradation. [Date last reviewed: 2019-03-21]
      Molecular function (GO)
        Gene Groups / Pathways
        Comments on ortholog(s)

        Moderate-scoring ortholog of human UVRAG (1 Drosophila to 1 human). Dmel\Uvrag shares 23% identity and 37% similarity with the human gene.

        Orthologs and Alignments from DRSC
        DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans
        Other Genes Used: Viral, Bacterial, Synthetic (0)
          Summary of Physical Interactions (2 groups)
          protein-protein
          Interacting group
          Assay
          References
          anti tag coimmunoprecipitation, anti tag western blot
          pull down, peptide massfingerprinting
          Alleles Reported to Model Human Disease (Disease Ontology) (3 alleles)
          Models Based on Experimental Evidence ( 3 )
          Modifiers Based on Experimental Evidence ( 1 )
          Allele
          Disease
          Interaction
          References
          Alleles Representing Disease-Implicated Variants
          Genetic Tools, Stocks and Reagents
          Sources of Stocks
          Contact lab of origin for a reagent not available from a public stock center.
          Bloomington Stock Center Disease Page
          Related mammalian, viral, bacterial, or synthetic transgenes
          Allele
          Transgene
          Publicly Available Stocks
          Selected Drosophila transgenes
          Allele
          Transgene
          Publicly Available Stocks
          RNAi constructs available
          Allele
          Transgene
          Publicly Available Stocks
          Selected Drosophila classical alleles
          Allele
          Allele class
          Mutagen
          Publicly Available Stocks
          amorphic allele - molecular evidence
          P-element activity
          amorphic allele - molecular evidence
          P-element activity
          References (5)