FB2026_03 , released September 17, 2026
Human Disease Model Report: cancer, epithelial, SALL4-related
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General Information
Name
cancer, epithelial, SALL4-related
FlyBase ID
FBhh0001292
Disease Ontology Term
Parent Disease
OMIM
Overview

The human gene SALL4 appears to play a role in regulating tumorigenesis and tumor progression in numerous human cancers. SALL4 encodes a zinc finger transcription factor that plays a role in the maintenance and self-renewal of embryonic and hematopoietic stem cells. There are two orthologous genes in Drosophila, salm and salr. Multiple genetic reagents have been generated for salm and salr including loss-of-function mutations, RNAi-targeting constructs, alleles caused by insertional mutagenesis, and overexpression constructs. There are three additional related genes in human, SALL1, SALL2, and SALL3.

A UAS construct of the wild-type human Hsap\SALL4 gene has been introduced into flies and has been used in this model.

Two Drosophila systems have been used to investigate the role of SALL4 in regulating invasive cell movement. Using larval wings discs, overexpression salm, salr, or Hsap\SALL4 in a central region within the normal salm/salr expression domain results in atypical cell migration within the disc. Overexpression of salm, salr, or Hsap\SALL4 in the larval salivary gland results in migration of cells into other larval tissues. These systems have been used to characterize aspects of the invasive cell behavior, including disruption of cell polarity and epithelial-mesenchymal transition. The roles of JNK signaling and Myc expression have been investigated.

[updated Nov. 2020 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: cancer, epithelial, SALL4-related
OMIM report
Human gene(s) implicated
Symptoms and phenotype
Genetics

Multiple lines of evidence indicate that the human gene SALL4 plays a role in regulating tumorigenesis, tumor growth and tumor progression in numerous human cancers (FBrf0245231 and references cited therein).

Cellular phenotype and pathology
Molecular information

SALL4 encodes a zinc finger transcription factor with a key role in the maintenance and self-renewal of embryonic and hematopoietic stem cells. [Gene Cards, SALL4; 2020.11.29]

External links
Disease synonyms
Ortholog Information
Human gene(s) in FlyBase
Human gene (HGNC)
D. melanogaster ortholog (based on DIOPT)
Comments on ortholog(s)

Many to many: 4 human genes to 2 Drosophila genes.

Other mammalian ortholog(s) used
    D. melanogaster Gene Information (2)
    Gene Snapshot
    spalt major (salm) encodes a zinc finger transcriptional repressor. It mediates most dpp functions during development of the central part of the wing through regulation of the products of kni and ara. The product of salm is required for cell specification during the development of the nervous system, muscle, eye or trachea. [Date last reviewed: 2019-03-14]
    Cellular component (GO)
    Gene Groups / Pathways
    Comments on ortholog(s)

    Moderate- to high-scoring ortholog of human SALL1, SALL3, SALL4, SALL2 (2 Drosophila to 4 human). Dmel\salm shares 23-29% identity and 34-40% similarity with the human genes.

    Orthologs and Alignments from DRSC
    DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans
    Gene Snapshot
    spalt-related (salr) encodes a zinc finger transcriptional repressor that, together with the product of salm, mediates most dpp functions during development of the central part of the wing. It is repressed by the product of Ubx during haltere development. [Date last reviewed: 2019-03-14]
    Cellular component (GO)
    Gene Groups / Pathways
    Comments on ortholog(s)

    Moderate-scoring ortholog of human SALL1, SALL4, SALL2, SALL3 (2 Drosophila to 4 human). Dmel\salr shares 26-29% identity and 39-41% similarity with SALL1 and SALL4.

    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 (13 groups)
      protein-protein
      Interacting group
      Assay
      References
      bimolecular fluorescence complementation, fluorescence microscopy
      bimolecular fluorescence complementation, fluorescence microscopy
      bimolecular fluorescence complementation, fluorescence microscopy
      bimolecular fluorescence complementation, fluorescence microscopy
      bimolecular fluorescence complementation, fluorescence microscopy
      Alleles Reported to Model Human Disease (Disease Ontology) (5 alleles)
      Models Based on Experimental Evidence ( 1 )
      Allele
      Disease
      Evidence
      References
      Modifiers Based on Experimental Evidence ( 1 )
      Allele
      Disease
      Interaction
      References
      Models Based on Experimental Evidence ( 2 )
      Allele
      Disease
      Evidence
      References
      Modifiers Based on Experimental Evidence ( 1 )
      Allele
      Disease
      Interaction
      References
      model of  carcinoma
      is ameliorated by TimpUAS.cPa
      is ameliorated by bskK53R.UAS
      is ameliorated by pucUAS.cMa
      Models Based on Experimental Evidence ( 2 )
      Allele
      Disease
      Evidence
      References
      Modifiers Based on Experimental Evidence ( 1 )
      Allele
      Disease
      Interaction
      References
      model of  carcinoma
      is exacerbated by MycHMS01538
      is ameliorated by MycUAS.cZa
      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 - genetic evidence
      ethyl methanesulfonate
      loss of function allele
      ethyl methanesulfonate
      amorphic allele - genetic evidence
      ethyl methanesulfonate
      loss of function allele
      ethyl methanesulfonate
      loss of function allele
      ethyl methanesulfonate
      References (3)