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General Information
Name
cancer, multiple, epigenetic mechanisms
FlyBase ID
FBhh0000779
Disease Ontology Term
Parent Disease
OMIM
Overview

Mutations of genes with a role in chromatin silencing, primarily members of various Polycomb group complexes, have been isolated or characterized as enhancers of hyperproliferative phenotypes (for example, phenotypes produced by activated Notch signaling, an activated Ras mutation, or loss of a Scribble complex component). These include mutations of ph-p, ph-d, and Pc, a double mutation of Psc and Su(z)2, a double overexpression mutation of psq and lola (designated "eyeful"), and reduced function of Sin3A. Reduced function of Sin3A has been observed to exacerbate tumorigenic phenotypes in a number of other fly disease model systems (see FBhh0000013, FBhh0000014, FBhh0000169). Overexpression of Dl combined with overexpression of psq and lola has been described as the "eyeful cancer model."

See also the human disease model reports 'cancer, multiple, Notch signaling pathway' (FBhh0000766), 'cancer, multiple, RAS-related' (FBhh0000474), and 'cancer, epithelial, Scribble-complex-related (FBhh0000586).

Members of SWI/SNF or Brahma-associated chromatin-remodeling complexes in fly have been also studied in the context of cancer disease models, including osa, brm, mor and Snr1; the role of osa has been most thoroughly characterized. Dmel\Snr1 has been used in a disease model of rhabdoid tumor predisposition syndrome (FBhh0000452). brm has been shown to interact with histone deacetylase 3 (HDAC3) to suppress dedifferentiation of type II neuroblasts.

Most loss-of-function mutations of these genes are lethal; somatic clones induced in imaginal discs allow characterization. In typical experiments, clones are generated in such a way that the clone comprises most of the disc cells, reducing effects of cell competition.

A component of the nucleosome remodeling deacetylase (NuRD) complex, Dmel\Mi-2 (orthologous to human CHD3, CHD4, and CHD5), has been used to characterize mutations analogous to disease-implicated variants of CHD4 seen in human cancers. Variant(s) implicated in human disease tested (as analogous mutation in fly gene): C452Y in the fly Mi-2 gene corresponds to C464Y in the human CHD4 gene); H1153R in the fly Mi-2 gene corresponds to H1151R in the human CHD4 gene); R1164Q in the fly Mi-2 gene corresponds to R1162Q in the human CHD4 gene); H1198Y in the fly Mi-2 gene corresponds to H1196Y in the human CHD4 gene); L1217P in the fly Mi-2 gene corresponds to L1215P in the human CHD4 gene).

[updated Nov. 2019 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: cancer, multiple, epigenetic mechanisms
OMIM report
Human gene(s) implicated
Symptoms and phenotype
Genetics
Cellular phenotype and pathology
Molecular information
Genes of the Drosophila Polycomb Group Complexes (http://flybase.org/reports/FBgg0000309.html).
External links
    Disease synonyms
    cancer, multiple, RB-related
    Ortholog Information
    Human gene(s) in FlyBase
      Other mammalian ortholog(s) used
        D. melanogaster Gene Information (14)
        Gene Snapshot
        pipsqueak (psq) encodes a transcription factor that regulates chromatin silencing. It mediates the interaction of Polycomb group (Pc-G) members with Pc-G response elements. [Date last reviewed: 2019-06-13]
        Cellular component (GO)
        Gene Groups / Pathways
        Comments on ortholog(s)
        One of several low-scoring fly orthologs of human BACH2.
        Orthologs and Alignments from DRSC
        DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans
        Gene Snapshot
        longitudinals lacking (lola) encodes a protein involved in Notch signaling, cell death, regulation of retrotransposons and expression of axon and dendrite patterning genes. It contributes to oogenesis, spermatogenesis, neural wiring, eye development and a variety of behaviors. [Date last reviewed: 2019-03-21]
        Cellular component (GO)
        Gene Groups / Pathways
        Comments on ortholog(s)
        One of several low-scoring fly orthologs of human ZBTB20.
        Orthologs and Alignments from DRSC
        DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans
        Gene Snapshot
        polyhomeotic proximal (ph-p) encodes a stoichiometric subunit of the Polycomb repressive complex 1. The complex silences a variety of genes involved in developmental patterning, regulation of cell proliferation, differentiation and polarity. Together with its paralog ph-d, ph-p functions as a tumor suppressor gene. [Date last reviewed: 2019-03-14]
        Cellular component (GO)
        Gene Groups / Pathways
        Comments on ortholog(s)
        Moderate-scoring ortholog of human PHC3, PHC2, and PHC1 (2 Drosophila to 3 human). Dmel\ph-p shares 23-26% identity and 35-37% 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
        polyhomeotic distal (ph-d) encodes a stoichiometric subunit of the Polycomb repressive complex 1. The complex silences a variety of genes involved in developmental patterning, regulation of cell proliferation, differentiation and polarity. Together with its paralog ph-p, ph-d functions as a tumor suppressor gene. [Date last reviewed: 2019-03-14]
        Cellular component (GO)
        Gene Groups / Pathways
        Comments on ortholog(s)
        Moderate-scoring ortholog of human PHC3, PHC2, and PHC1 (2 Drosophila to 3 human). Dmel\ph-d shares 23-25% identity and 34-38% 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
        Polycomb (Pc) encodes a chromatin binding protein that interacts with histone H3K27me3. It is involved in epigenetic silencing and its target genes are predominantly transcription factors or receptors that control cell fate and most developmental decisions. [Date last reviewed: 2019-03-14]
        Gene Groups / Pathways
        Comments on ortholog(s)
        Moderate-scoring ortholog of human CBX8, CBX6, CBX4, CBX7, and CBX2 (1 Drosophila to 5 human). Dmel\Pc shares 21-25% identity and 32-38% 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
        Posterior sex combs (Psc) was originally identified as a member of the Polycomb group of genes that regulate gene expression through epigenetic marks. [Date last reviewed: 2019-03-14]
        Gene Groups / Pathways
        Comments on ortholog(s)
        Low- to moderate-scoring ortholog of human BMI1, PCGF2, COMMD3-BMI1 and PCGF5 (multiple homologous genes in both species). Dmel\Psc shares 27-32% identity and 45-47% 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
        Suppressor of zeste 2 (Su(z)2) encodes a protein that regulates gene expression by modifying epigenetic marks. The gene is related to Psc and was orginally identified due to its ability to suppress transvection at z. [Date last reviewed: 2019-09-26]
        Gene Groups / Pathways
          Comments on ortholog(s)
          Low- to moderate-scoring ortholog of human PCGF2, BMI1, PCGF1, COMMD3-BMI1 and PCGF3 (multiple homologous genes in both species). Dmel\Su(z)2 shares 27-30% identity and 44-47% 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
          Sin3A (Sin3A) encodes a chromatin regulator with roles during muscle development, cell migration and Wnt signalling regulation. [Date last reviewed: 2019-09-12]
          Gene Groups / Pathways
          Comments on ortholog(s)
          Moderate- to high-scoring ortholog of human SIN3A and SIN3B (1 Drosophila to 2 human). Dmel\Sin3A shares 31-34% identity and 41-44% 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
          osa (osa) encodes a subunit of the BAP chromatin remodeling complex. It antagonizes Wnt target gene expression and limits the self-renewal of neural and intestinal stem cells. [Date last reviewed: 2019-03-14]
          Molecular function (GO)
          Gene Groups / Pathways
          Comments on ortholog(s)
          High-scoring ortholog of human ARID1A and ARID1B (1 Drosophila to 2 human). Dmel\osa shares 27-28% identity and 37-38% 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
          brahma (brm) encodes the ATPase subunit of the Brahma chromatin-remodeling complex, which is involved in transcription regulation. It regulates Egfr signalling, stem cell proliferation, and innate immune response. It contributes to multiple processes including neurogenesis, muscle development, phagocytosis, His3-K27 acetylation and leg and wing morphogenesis. [Date last reviewed: 2019-03-07]
          Gene Groups / Pathways
          Comments on ortholog(s)
          High-scoring ortholog of human SMARCA2 and SMARCA4 (1 Drosophila to 2 human). Dmel\brm shares 50-51% identity and 62-63% 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
          moira (mor) encodes a member of the trithorax group of homeotic gene regulators. The product of mor is a chromatin remodeling protein and functions as the Swi3 component of the Brahma complex. [Date last reviewed: 2018-09-20]
          Gene Groups / Pathways
          Comments on ortholog(s)
          High-scoring ortholog of human SMARCC2 and SMARCC1 (1 Drosophila to 2 human). Dmel\mor shares 44% identity and 58-59% 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
          Snf5-related 1 (Snr1) encodes a core component of the ATP-dependent SWI/SNF chromatin-remodeling complex (Brahma complex). It functions as a tumor suppressor and is required for maintaining normal endosomal trafficking-mediated signaling cascades. [Date last reviewed: 2018-09-13]
          Gene Groups / Pathways
          Comments on ortholog(s)
          High-scoring ortholog of human SMARCB1 (1 Drosophila to 1 human). Dmel\Snr1 shares 63% identity and 74% 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
          Gene Snapshot
          Mi-2 (Mi-2) encodes a nuclear ATP-dependent nucleosome remodeler of the CHD family. It associates with active chromatin and utilizes the energy of ATP hydrolysis to move nucleosomes along DNA. It is required for repression of cell type-specific genes, full activation of heat shock genes and regulates higher order chromatin structure of polytene chromosomes. [Date last reviewed: 2019-03-14]
          Gene Groups / Pathways
          Comments on ortholog(s)
          Moderate- to high-scoring ortholog of human CHD3, CHD4, and CHD5 (2 Drosophila to 3 human). Dmel\Mi-2 shares 51-54% identity and 63-67% 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
          Histone deacetylase 3 (HDAC3) encodes a histone deacetylase involved in chromatin silencing. It controls cell growth through apoptosis suppression by regulating transcription of hid. [Date last reviewed: 2019-03-07]
          Gene Groups / Pathways
          Comments on ortholog(s)
          High-scoring ortholog of human HDAC3. Dmel\HDAC3 shares 67% identity and 85% 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
          Synthetic Gene(s) Used (0)
          Summary of Physical Interactions (372 groups)
          protein-protein
          Interacting group
          Assay
          References
          comigration in gel electrophoresis, anti tag western blot, molecular sieving, molecular weight estimation by staining, two hybrid
          bimolecular fluorescence complementation, fluorescence microscopy
          anti tag coimmunoprecipitation, peptide massfingerprinting, experimental knowledge based
          pull down, western blot, anti bait coimmunoprecipitation
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          two hybrid, experimental knowledge based
          bimolecular fluorescence complementation, fluorescence microscopy
          protein-protein
          Interacting group
          Assay
          References
          pull down, tag visualisation, anti bait coimmunoprecipitation, western blot, two hybrid
          bimolecular fluorescence complementation, fluorescence microscopy, two hybrid array
          anti tag coimmunoprecipitation, western blot, anti tag western blot
          anti tag coimmunoprecipitation, anti tag western blot, western blot
          two hybrid, anti bait coimmunoprecipitation, western blot, pull down
          anti tag coimmunoprecipitation, Identification by mass spectrometry
          anti tag coimmunoprecipitation, Identification by mass spectrometry
          two hybrid, anti bait coimmunoprecipitation, Identification by mass spectrometry
          RNA-protein
          Interacting group
          Assay
          References
          systematic evolution of ligands by exponential enrichment, full identification by DNA sequencing, electrophoretic mobility shift assay, autoradiography
          protein-protein
          Interacting group
          Assay
          References
          nuclear magnetic resonance, atomic force microscopy, two hybrid, cosedimentation, molecular weight
          bimolecular fluorescence complementation, fluorescence microscopy
          anti bait coimmunoprecipitation, western blot
          cross-linking study, tandem affinity purification, Identification by mass spectrometry
          anti bait coimmunoprecipitation, western blot
          pull down, autoradiography, two hybrid
          anti tag coimmunoprecipitation, peptide massfingerprinting, ion exchange chromatography, molecular sieving, western blot, anti bait coimmunoprecipitation
          anti bait coimmunoprecipitation, autoradiography
          anti tag coimmunoprecipitation, peptide massfingerprinting
          anti bait coimmunoprecipitation, western blot, anti tag coimmunoprecipitation, pull down, ion exchange chromatography, molecular sieving, affinity chromatography technology, molecular weight estimation by staining, Identification by mass spectrometry, tandem affinity purification, peptide massfingerprinting, autoradiography
          anti tag coimmunoprecipitation, western blot
          anti bait coimmunoprecipitation, western blot, anti tag coimmunoprecipitation, molecular weight estimation by staining, peptide massfingerprinting, pull down, autoradiography, ion exchange chromatography, molecular sieving, Identification by mass spectrometry, two hybrid
          anti tag coimmunoprecipitation, peptide massfingerprinting
          anti tag coimmunoprecipitation, peptide massfingerprinting
          affinity chromatography technology, molecular weight estimation by staining, western blot, anti bait coimmunoprecipitation, anti tag coimmunoprecipitation, peptide massfingerprinting, ion exchange chromatography, molecular sieving, Identification by mass spectrometry
          pull down, autoradiography, anti tag coimmunoprecipitation, molecular weight estimation by staining, anti bait coimmunoprecipitation, western blot, tandem affinity purification, Identification by mass spectrometry, surface plasmon resonance, two hybrid, affinity chromatography technology, molecular sieving, x-ray crystallography
          anti tag coimmunoprecipitation, molecular weight estimation by staining, peptide massfingerprinting
          anti bait coimmunoprecipitation, western blot, affinity chromatography technology, molecular weight estimation by staining
          anti tag coimmunoprecipitation, peptide massfingerprinting, ion exchange chromatography, molecular sieving, western blot
          anti tag coimmunoprecipitation, ion exchange chromatography, molecular sieving, western blot, anti bait coimmunoprecipitation, peptide massfingerprinting
          anti tag coimmunoprecipitation, ion exchange chromatography, molecular sieving, western blot, peptide massfingerprinting, anti bait coimmunoprecipitation
          anti tag coimmunoprecipitation, peptide massfingerprinting, ion exchange chromatography, molecular sieving, western blot
          anti bait coimmunoprecipitation, western blot
          anti bait coimmunoprecipitation, western blot
          bimolecular fluorescence complementation, fluorescence microscopy
          anti tag coimmunoprecipitation, peptide massfingerprinting, ion exchange chromatography, molecular sieving, western blot, affinity chromatography technology, molecular weight estimation by staining
          protein-protein
          Interacting group
          Assay
          References
          anti bait coimmunoprecipitation, western blot
          cross-linking study, tandem affinity purification, Identification by mass spectrometry
          anti bait coimmunoprecipitation, western blot
          anti bait coimmunoprecipitation, western blot, anti tag coimmunoprecipitation, pull down, peptide massfingerprinting, Identification by mass spectrometry, tandem affinity purification
          anti tag coimmunoprecipitation, western blot
          anti tag coimmunoprecipitation, western blot
          anti bait coimmunoprecipitation, western blot, anti tag coimmunoprecipitation, peptide massfingerprinting, Identification by mass spectrometry, molecular weight estimation by staining
          anti bait coimmunoprecipitation, Identification by mass spectrometry, western blot, anti tag coimmunoprecipitation, peptide massfingerprinting
          anti tag coimmunoprecipitation, western blot
          anti tag coimmunoprecipitation, western blot, peptide massfingerprinting
          anti tag coimmunoprecipitation, peptide massfingerprinting
          anti bait coimmunoprecipitation, western blot
          protein-protein
          Interacting group
          Assay
          References
          anti bait coimmunoprecipitation, western blot
          anti tag coimmunoprecipitation, anti tag western blot
          pull down, peptide massfingerprinting, tandem affinity purification, Identification by mass spectrometry
          anti bait coimmunoprecipitation, western blot
          anti tag coimmunoprecipitation, western blot
          anti bait coimmunoprecipitation, western blot
          anti bait coimmunoprecipitation, western blot
          pull down, peptide massfingerprinting
          pull down, peptide massfingerprinting
          tandem affinity purification, Identification by mass spectrometry, pull down, peptide massfingerprinting
          anti bait coimmunoprecipitation, western blot, autoradiography
          tandem affinity purification, Identification by mass spectrometry, pull down, peptide massfingerprinting, western blot
          pull down, peptide massfingerprinting
          anti bait coimmunoprecipitation, autoradiography, western blot
          affinity technology, peptide array, western blot
          affinity technology, peptide array, western blot
          affinity technology, peptide array, western blot
          pull down, autoradiography, affinity technology, peptide array, western blot
          affinity technology, peptide array, western blot
          pull down, western blot, enzymatic study, anti bait coimmunoprecipitation
          anti bait coimmunoprecipitation, western blot, anti tag coimmunoprecipitation, pull down, peptide massfingerprinting, Identification by mass spectrometry, tandem affinity purification
          anti bait coimmunoprecipitation, western blot, pull down, peptide massfingerprinting
          anti bait coimmunoprecipitation, western blot, anti tag coimmunoprecipitation, pull down, ion exchange chromatography, molecular sieving, affinity chromatography technology, molecular weight estimation by staining, Identification by mass spectrometry, tandem affinity purification, peptide massfingerprinting, autoradiography
          pull down, peptide massfingerprinting
          anti tag coimmunoprecipitation, anti tag western blot
          two hybrid, anti tag coimmunoprecipitation, western blot, pull down, peptide massfingerprinting, anti bait coimmunoprecipitation, Identification by mass spectrometry, molecular weight estimation by staining, molecular sieving, tandem affinity purification, autoradiography
          pull down, western blot, anti bait coimmunoprecipitation
          pull down, peptide massfingerprinting
          anti bait coimmunoprecipitation, western blot
          anti bait coimmunoprecipitation, western blot, Identification by mass spectrometry, tandem affinity purification, pull down, experimental knowledge based, peptide massfingerprinting
          tandem affinity purification, Identification by mass spectrometry, anti tag coimmunoprecipitation, western blot, molecular sieving
          pull down, western blot, tandem affinity purification, Identification by mass spectrometry, peptide massfingerprinting
          pull down, peptide massfingerprinting, anti bait coimmunoprecipitation, western blot
          pull down, peptide massfingerprinting, anti bait coimmunoprecipitation, western blot
          anti tag coimmunoprecipitation, western blot, pull down, anti tag western blot
          anti bait coimmunoprecipitation, western blot
          pull down, peptide massfingerprinting, tandem affinity purification, Identification by mass spectrometry, anti bait coimmunoprecipitation, western blot, affinity chromatography technology, molecular weight estimation by staining
          anti bait coimmunoprecipitation, western blot
          anti bait coimmunoprecipitation, western blot
          anti bait coimmunoprecipitation, western blot
          anti bait coimmunoprecipitation, western blot
          anti bait coimmunoprecipitation, autoradiography
          anti bait coimmunoprecipitation, western blot
          anti tag coimmunoprecipitation, western blot, pull down, peptide massfingerprinting, anti bait coimmunoprecipitation
          anti tag coimmunoprecipitation, anti tag western blot
          RNA-protein
          Interacting group
          Assay
          References
          anti tag coimmunoprecipitation, primer specific pcr
          anti tag coimmunoprecipitation, partial DNA sequence identification by hybridization, anti bait coimmunoprecipitation
          protein-protein
          Interacting group
          Assay
          References
          pull down, anti tag western blot, autoradiography, anti tag coimmunoprecipitation, cross-linking study, western blot
          cross-linking study, tandem affinity purification, Identification by mass spectrometry
          anti bait coimmunoprecipitation, western blot, Identification by mass spectrometry
          anti bait coimmunoprecipitation, western blot, Identification by mass spectrometry
          anti bait coimmunoprecipitation, western blot
          pull down, autoradiography, enzymatic study, western blot, anti bait coimmunoprecipitation, Identification by mass spectrometry
          anti bait coimmunoprecipitation, western blot
          anti tag coimmunoprecipitation, western blot, cross-linking study, tandem affinity purification, Identification by mass spectrometry, molecular weight estimation by staining
          anti bait coimmunoprecipitation, western blot, molecular weight estimation by staining
          pull down, western blot, anti bait coimmunoprecipitation, autoradiography, Identification by mass spectrometry
          anti bait coimmunoprecipitation, Identification by mass spectrometry, western blot
          anti bait coimmunoprecipitation, western blot
          anti bait coimmunoprecipitation, western blot
          two hybrid, anti tag coimmunoprecipitation, western blot, pull down, peptide massfingerprinting, anti bait coimmunoprecipitation, Identification by mass spectrometry, molecular weight estimation by staining, molecular sieving, tandem affinity purification, autoradiography
          anti bait coimmunoprecipitation, western blot, anti tag coimmunoprecipitation, peptide massfingerprinting, Identification by mass spectrometry, molecular weight estimation by staining
          anti bait coimmunoprecipitation, western blot, anti tag coimmunoprecipitation, molecular weight estimation by staining, peptide massfingerprinting, pull down, autoradiography, ion exchange chromatography, molecular sieving, Identification by mass spectrometry, two hybrid
          anti bait coimmunoprecipitation, western blot
          anti tag coimmunoprecipitation, peptide massfingerprinting, experimental knowledge based
          anti bait coimmunoprecipitation, western blot, molecular weight estimation by staining, Identification by mass spectrometry, anti tag coimmunoprecipitation, peptide massfingerprinting
          molecular sieving, western blot, tandem affinity purification, Identification by mass spectrometry, anti tag coimmunoprecipitation, molecular weight estimation by staining
          anti bait coimmunoprecipitation, western blot
          anti bait coimmunoprecipitation, western blot
          anti bait coimmunoprecipitation, western blot
          anti bait coimmunoprecipitation, western blot
          anti tag coimmunoprecipitation, western blot
          protein-protein
          Interacting group
          Assay
          References
          cross-linking study, tandem affinity purification, Identification by mass spectrometry
          cross-linking study, tandem affinity purification, Identification by mass spectrometry
          pull down, peptide massfingerprinting, tandem affinity purification, Identification by mass spectrometry, anti bait coimmunoprecipitation, western blot, affinity chromatography technology, molecular weight estimation by staining
          anti tag coimmunoprecipitation, peptide massfingerprinting
          anti bait coimmunoprecipitation, western blot, affinity chromatography technology, molecular weight estimation by staining
          anti tag coimmunoprecipitation, peptide massfingerprinting, experimental knowledge based
          anti bait coimmunoprecipitation, western blot, affinity chromatography technology, molecular weight estimation by staining
          tandem affinity purification, Identification by mass spectrometry
          protein-protein
          Interacting group
          Assay
          References
          anti bait coimmunoprecipitation, Identification by mass spectrometry, western blot
          experimental knowledge based, anti tag coimmunoprecipitation, peptide massfingerprinting
          anti tag coimmunoprecipitation, western blot, peptide massfingerprinting
          anti bait coimmunoprecipitation, western blot, Identification by mass spectrometry, anti tag coimmunoprecipitation, peptide massfingerprinting
          anti tag coimmunoprecipitation, peptide massfingerprinting
          anti tag coimmunoprecipitation, peptide massfingerprinting, experimental knowledge based
          anti bait coimmunoprecipitation, western blot, anti tag coimmunoprecipitation, peptide massfingerprinting, Identification by mass spectrometry
          anti tag coimmunoprecipitation, western blot, anti tag western blot
          anti tag coimmunoprecipitation, western blot, experimental knowledge based, peptide massfingerprinting
          anti tag coimmunoprecipitation, peptide massfingerprinting
          anti tag coimmunoprecipitation, western blot, tandem affinity purification
          anti tag coimmunoprecipitation, peptide massfingerprinting, Identification by mass spectrometry, anti bait coimmunoprecipitation, western blot
          pull down, autoradiography
          anti bait coimmunoprecipitation, Identification by mass spectrometry, western blot
          anti bait coimmunoprecipitation, cross-linking study, western blot, pull down
          anti tag coimmunoprecipitation, peptide massfingerprinting
          anti tag coimmunoprecipitation, anti tag western blot
          anti bait coimmunoprecipitation, western blot
          anti bait coimmunoprecipitation, western blot
          protein-protein
          Interacting group
          Assay
          References
          anti bait coimmunoprecipitation, molecular weight estimation by staining
          anti bait coimmunoprecipitation, molecular weight estimation by staining
          experimental knowledge based, anti bait coimmunoprecipitation, molecular weight estimation by staining, anti tag coimmunoprecipitation, protein cross-linking with a bifunctional reagent, Identification by mass spectrometry
          anti bait coimmunoprecipitation, molecular weight estimation by staining, protein cross-linking with a bifunctional reagent, Identification by mass spectrometry
          anti bait coimmunoprecipitation, western blot, ion exchange chromatography, molecular sieving, peptide massfingerprinting, experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          nuclear magnetic resonance
          experimental knowledge based
          anti bait coimmunoprecipitation, western blot
          anti tag coimmunoprecipitation, protein cross-linking with a bifunctional reagent, Identification by mass spectrometry
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          anti bait coimmunoprecipitation, western blot, peptide massfingerprinting, experimental knowledge based, ion exchange chromatography, molecular sieving
          protein cross-linking with a bifunctional reagent, Identification by mass spectrometry
          experimental knowledge based
          anti tag coimmunoprecipitation, anti tag western blot
          anti tag coimmunoprecipitation, comigration in sds page, anti tag western blot
          anti bait coimmunoprecipitation, western blot, molecular weight estimation by staining
          anti bait coimmunoprecipitation, western blot
          anti bait coimmunoprecipitation, western blot, two hybrid
          experimental knowledge based
          anti bait coimmunoprecipitation, peptide massfingerprinting
          far western blotting, autoradiography
          RNA-protein
          Interacting group
          Assay
          References
          anti bait coimmunoprecipitation, full identification by DNA sequencing
          electrophoretic mobility shift assay, autoradiography
          anti bait coimmunoprecipitation, full identification by DNA sequencing
          protein-protein
          Interacting group
          Assay
          References
          anti bait coimmunoprecipitation, ion exchange chromatography, molecular sieving, molecular weight estimation by staining, peptide massfingerprinting, anti tag coimmunoprecipitation, anti tag western blot, pull down, edman degradation
          protein cross-linking with a bifunctional reagent, Identification by mass spectrometry, pull down, ion exchange chromatography, molecular sieving, edman degradation, anti bait coimmunoprecipitation, peptide massfingerprinting, molecular weight estimation by staining
          pull down, western blot, anti bait coimmunoprecipitation
          anti bait coimmunoprecipitation, ion exchange chromatography, molecular sieving, molecular weight estimation by staining
          anti tag coimmunoprecipitation, western blot, experimental knowledge based, anti bait coimmunoprecipitation, peptide massfingerprinting, anti tag western blot, ion exchange chromatography, molecular sieving, molecular weight estimation by staining, protein cross-linking with a bifunctional reagent, Identification by mass spectrometry, pull down, edman degradation
          pull down, ion exchange chromatography, molecular sieving, edman degradation, anti tag coimmunoprecipitation, protein cross-linking with a bifunctional reagent, Identification by mass spectrometry, anti bait coimmunoprecipitation, molecular weight estimation by staining, western blot, experimental knowledge based, peptide massfingerprinting
          anti bait coimmunoprecipitation, molecular weight estimation by staining, protein cross-linking with a bifunctional reagent, Identification by mass spectrometry, anti tag coimmunoprecipitation, western blot, peptide massfingerprinting, pull down, ion exchange chromatography, molecular sieving
          anti bait coimmunoprecipitation, peptide massfingerprinting, western blot, ion exchange chromatography, molecular sieving, molecular weight estimation by staining
          experimental knowledge based
          experimental knowledge based
          protein cross-linking with a bifunctional reagent, Identification by mass spectrometry
          anti tag coimmunoprecipitation, western blot, Identification by mass spectrometry, anti tag western blot
          anti bait coimmunoprecipitation, western blot, experimental knowledge based, Identification by mass spectrometry
          experimental knowledge based
          anti tag coimmunoprecipitation, peptide massfingerprinting
          anti bait coimmunoprecipitation, western blot, anti tag coimmunoprecipitation, Identification by mass spectrometry
          experimental knowledge based
          experimental knowledge based
          anti tag coimmunoprecipitation, anti tag western blot, pull down
          anti tag coimmunoprecipitation, Identification by mass spectrometry
          anti tag coimmunoprecipitation, western blot
          anti tag coimmunoprecipitation, Identification by mass spectrometry
          anti tag coimmunoprecipitation, anti tag western blot
          pull down, anti tag western blot
          pull down, ion exchange chromatography, molecular sieving, edman degradation
          experimental knowledge based
          anti tag coimmunoprecipitation, Identification by mass spectrometry
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          anti bait coimmunoprecipitation, western blot, experimental knowledge based, pull down, autoradiography, protein cross-linking with a bifunctional reagent, Identification by mass spectrometry, ion exchange chromatography, molecular sieving, molecular weight estimation by staining, peptide massfingerprinting, far western blotting
          anti bait coimmunoprecipitation, western blot
          anti bait coimmunoprecipitation, western blot, pull down, anti tag western blot, molecular sieving
          anti bait coimmunoprecipitation, western blot, ion exchange chromatography, molecular sieving, peptide massfingerprinting, experimental knowledge based
          anti bait coimmunoprecipitation, ion exchange chromatography, molecular sieving, molecular weight estimation by staining
          anti bait coimmunoprecipitation, peptide massfingerprinting, western blot, ion exchange chromatography, molecular sieving
          experimental knowledge based
          experimental knowledge based
          anti tag coimmunoprecipitation, Identification by mass spectrometry
          anti tag coimmunoprecipitation, western blot, anti bait coimmunoprecipitation, anti tag western blot
          anti tag coimmunoprecipitation, Identification by mass spectrometry
          anti bait coimmunoprecipitation, anti tag western blot, peptide massfingerprinting, anti tag coimmunoprecipitation
          anti tag coimmunoprecipitation, Identification by mass spectrometry
          anti tag coimmunoprecipitation, western blot, anti bait coimmunoprecipitation, ion exchange chromatography, molecular sieving, molecular weight estimation by staining, experimental knowledge based, peptide massfingerprinting, pull down
          two hybrid, pull down, western blot, anti tag coimmunoprecipitation, anti tag western blot
          anti tag coimmunoprecipitation, anti tag western blot, western blot
          anti tag coimmunoprecipitation, peptide massfingerprinting, anti bait coimmunoprecipitation, western blot
          anti tag coimmunoprecipitation, Identification by mass spectrometry
          experimental knowledge based
          anti bait coimmunoprecipitation, western blot, molecular sieving
          anti bait coimmunoprecipitation, peptide massfingerprinting, anti tag coimmunoprecipitation, anti tag western blot
          anti bait coimmunoprecipitation, autoradiography
          protein-protein
          Interacting group
          Assay
          References
          pull down, autoradiography, two hybrid
          bimolecular fluorescence complementation, fluorescence microscopy
          far western blotting, autoradiography
          far western blotting, autoradiography
          anti bait coimmunoprecipitation, western blot
          experimental knowledge based
          ion exchange chromatography, molecular sieving, western blot, far western blotting, autoradiography, experimental knowledge based, protein cross-linking with a bifunctional reagent, Identification by mass spectrometry, anti tag coimmunoprecipitation
          experimental knowledge based, far western blotting, autoradiography, protein cross-linking with a bifunctional reagent, Identification by mass spectrometry
          anti bait coimmunoprecipitation, western blot, ion exchange chromatography, molecular sieving
          experimental knowledge based
          anti bait coimmunoprecipitation, western blot, experimental knowledge based, pull down, autoradiography, protein cross-linking with a bifunctional reagent, Identification by mass spectrometry, ion exchange chromatography, molecular sieving, molecular weight estimation by staining, peptide massfingerprinting, far western blotting
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          anti tag coimmunoprecipitation, Identification by mass spectrometry
          experimental knowledge based
          experimental knowledge based
          ion exchange chromatography, molecular sieving, western blot, anti bait coimmunoprecipitation
          anti bait coimmunoprecipitation, peptide massfingerprinting
          coimmunoprecipitation, western blot, anti tag coimmunoprecipitation, anti bait coimmunoprecipitation, ion exchange chromatography, molecular sieving, Identification by mass spectrometry
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          anti bait coimmunoprecipitation, western blot, peptide massfingerprinting, experimental knowledge based, ion exchange chromatography, molecular sieving
          anti bait coimmunoprecipitation, western blot, protein cross-linking with a bifunctional reagent, Identification by mass spectrometry, ion exchange chromatography, molecular sieving
          experimental knowledge based
          experimental knowledge based
          anti tag coimmunoprecipitation, Identification by mass spectrometry
          anti tag coimmunoprecipitation, Identification by mass spectrometry
          anti tag coimmunoprecipitation, anti tag western blot, anti bait coimmunoprecipitation, peptide massfingerprinting
          anti tag coimmunoprecipitation, Identification by mass spectrometry
          experimental knowledge based
          experimental knowledge based, protein cross-linking with a bifunctional reagent, Identification by mass spectrometry, two hybrid
          anti bait coimmunoprecipitation, western blot
          anti bait coimmunoprecipitation, western blot, ion exchange chromatography, molecular sieving
          anti bait coimmunoprecipitation, western blot
          anti bait coimmunoprecipitation, western blot
          anti bait coimmunoprecipitation, western blot
          ion exchange chromatography, molecular sieving, western blot
          experimental knowledge based
          anti tag coimmunoprecipitation, peptide massfingerprinting
          bimolecular fluorescence complementation, fluorescence microscopy
          experimental knowledge based
          pull down, anti tag western blot, anti bait coimmunoprecipitation, western blot, anti tag coimmunoprecipitation, peptide massfingerprinting
          far western blotting, autoradiography, pull down
          experimental knowledge based
          protein-protein
          Interacting group
          Assay
          References
          experimental knowledge based
          experimental knowledge based, anti tag coimmunoprecipitation, protein cross-linking with a bifunctional reagent, Identification by mass spectrometry
          experimental knowledge based
          anti tag coimmunoprecipitation, western blot, anti bait coimmunoprecipitation, ion exchange chromatography, molecular sieving, molecular weight estimation by staining, experimental knowledge based, peptide massfingerprinting, pull down
          experimental knowledge based
          experimental knowledge based
          anti tag coimmunoprecipitation, Identification by mass spectrometry
          anti bait coimmunoprecipitation, western blot, experimental knowledge based
          anti tag coimmunoprecipitation, protein cross-linking with a bifunctional reagent, Identification by mass spectrometry
          experimental knowledge based
          anti tag coimmunoprecipitation, anti tag western blot, enzymatic study, autoradiography, two hybrid, western blot
          experimental knowledge based
          anti bait coimmunoprecipitation, western blot
          experimental knowledge based
          anti tag coimmunoprecipitation, anti tag western blot, pull down
          anti tag coimmunoprecipitation, western blot
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          experimental knowledge based
          enzymatic study, western blot, autoradiography, anti tag coimmunoprecipitation, anti tag western blot
          experimental knowledge based, protein cross-linking with a bifunctional reagent, Identification by mass spectrometry, two hybrid
          anti bait coimmunoprecipitation, western blot, molecular weight estimation by staining
          pull down, western blot, anti bait coimmunoprecipitation
          anti tag coimmunoprecipitation, peptide massfingerprinting
          pull down, western blot
          protein-protein
          Interacting group
          Assay
          References
          pull down, autoradiography, anti bait coimmunoprecipitation, Identification by mass spectrometry, western blot
          anti tag coimmunoprecipitation, Identification by mass spectrometry, western blot, anti bait coimmunoprecipitation
          anti bait coimmunoprecipitation, Identification by mass spectrometry, western blot
          anti bait coimmunoprecipitation, Identification by mass spectrometry
          experimental knowledge based
          anti tag coimmunoprecipitation, peptide massfingerprinting, experimental knowledge based
          experimental knowledge based
          anti bait coimmunoprecipitation, Identification by mass spectrometry
          anti bait coimmunoprecipitation, western blot, pull down, autoradiography, molecular weight estimation by staining
          anti tag coimmunoprecipitation, Identification by mass spectrometry
          anti tag coimmunoprecipitation, Identification by mass spectrometry
          anti bait coimmunoprecipitation, western blot, Identification by mass spectrometry, anti tag coimmunoprecipitation
          anti tag coimmunoprecipitation, western blot, anti bait coimmunoprecipitation
          experimental knowledge based
          anti tag coimmunoprecipitation, western blot, ion exchange chromatography, molecular sieving, anti bait coimmunoprecipitation, Identification by mass spectrometry
          anti bait coimmunoprecipitation, western blot, ion exchange chromatography, affinity chromatography technology, peptide massfingerprinting, pull down, autoradiography, anti tag coimmunoprecipitation, Identification by mass spectrometry, molecular weight estimation by staining, molecular sieving
          anti bait coimmunoprecipitation, western blot, anti tag coimmunoprecipitation, Identification by mass spectrometry
          ion exchange chromatography, molecular sieving, western blot, anti bait coimmunoprecipitation, Identification by mass spectrometry
          anti bait coimmunoprecipitation, Identification by mass spectrometry
          anti tag coimmunoprecipitation, Identification by mass spectrometry
          anti tag coimmunoprecipitation, Identification by mass spectrometry
          pull down, autoradiography
          anti bait coimmunoprecipitation, western blot, anti tag coimmunoprecipitation, Identification by mass spectrometry
          pull down, autoradiography
          experimental knowledge based
          anti bait coimmunoprecipitation, western blot
          anti tag coimmunoprecipitation, peptide massfingerprinting
          anti tag coimmunoprecipitation, Identification by mass spectrometry
          anti bait coimmunoprecipitation, Identification by mass spectrometry, western blot, anti tag coimmunoprecipitation, peptide massfingerprinting, experimental knowledge based
          RNA-protein
          Interacting group
          Assay
          References
          electrophoretic mobility shift assay, molecular weight estimation by staining, anti tag coimmunoprecipitation, quantitative reverse transcription pcr
          anti tag coimmunoprecipitation, quantitative reverse transcription pcr
          protein-protein
          Interacting group
          Assay
          References
          anti tag coimmunoprecipitation, anti tag western blot
          anti bait coimmunoprecipitation, western blot
          pull down, anti tag western blot, anti tag coimmunoprecipitation
          anti tag coimmunoprecipitation, peptide massfingerprinting
          pull down, anti tag western blot, anti tag coimmunoprecipitation, autoradiography
          Alleles Reported to Model Human Disease (Disease Ontology) (32 alleles)
          Models Based on Experimental Evidence ( 2 )
          Modifiers Based on Experimental Evidence ( 0 )
          Allele
          Disease
          Interaction
          References
          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 ( 1 )
          Allele
          Disease
          Evidence
          References
          Modifiers Based on Experimental Evidence ( 1 )
          Allele
          Disease
          Interaction
          References
          Models Based on Experimental Evidence ( 0 )
          Allele
          Disease
          Evidence
          References
          Modifiers Based on Experimental Evidence ( 1 )
          Allele
          Disease
          Interaction
          References
          Models Based on Experimental Evidence ( 0 )
          Allele
          Disease
          Evidence
          References
          Modifiers Based on Experimental Evidence ( 3 )
          Allele
          Disease
          Interaction
          References
          Models Based on Experimental Evidence ( 1 )
          Allele
          Disease
          Evidence
          References
          Modifiers Based on Experimental Evidence ( 10 )
          Allele
          Disease
          Interaction
          References
          Models Based on Experimental Evidence ( 0 )
          Allele
          Disease
          Evidence
          References
          Modifiers Based on Experimental Evidence ( 1 )
          Allele
          Disease
          Interaction
          References
          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 ( 1 )
          Allele
          Disease
          Evidence
          References
          Modifiers Based on Experimental Evidence ( 0 )
          Allele
          Disease
          Interaction
          References
          Models Based on Experimental Evidence ( 3 )
          Modifiers Based on Experimental Evidence ( 1 )
          Allele
          Disease
          Interaction
          References
          Models Based on Experimental Evidence ( 0 )
          Allele
          Disease
          Evidence
          References
          Modifiers Based on Experimental Evidence ( 5 )
          Models Based on Experimental Evidence ( 0 )
          Allele
          Disease
          Evidence
          References
          Modifiers Based on Experimental Evidence ( 1 )
          Allele
          Disease
          Interaction
          References
          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
          Selected mammalian 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
          loss of function allele
          X ray
          loss of function allele
          amorphic allele - genetic evidence
          ethyl methanesulfonate
          amorphic allele - genetic evidence
          amorphic allele - genetic evidence
          ethyl methanesulfonate
          loss of function allele
          X ray
          amorphic allele - genetic evidence
          ethyl methanesulfonate
          amorphic allele - genetic evidence
          ethyl methanesulfonate
          amorphic allele - genetic evidence
          ethyl methanesulfonate
          amorphic allele - genetic evidence
          ethyl methanesulfonate
          loss of function allele
          gamma ray
          amorphic allele - genetic evidence
          ethyl methanesulfonate
          amorphic allele - genetic evidence
          X ray
          amorphic allele - genetic evidence
          X ray
          amorphic allele - genetic evidence
          ethyl methanesulfonate
          loss of function allele
          P-element activity
          loss of function allele
          CRISPR/Cas9
          loss of function allele
          gamma ray
          loss of function allele
          ethyl methanesulfonate
          loss of function allele
          X ray
          loss of function allele
          ethyl methanesulfonate
          loss of function allele
          ethyl methanesulfonate
          amorphic allele - genetic evidence
          loss of function allele
          ethyl methanesulfonate
          loss of function allele
          X ray
          loss of function allele
          ethyl methanesulfonate
          amorphic allele - genetic evidence
          P-element activity
          P-element activity
          P-element activity
          P-element activity
          P-element activity
          loss of function allele
          P-element activity
          loss of function allele
          P-element activity
          loss of function allele
          P-element activity
          loss of function allele
          P-element activity
          loss of function allele
          P-element activity
          loss of function allele
          P-element activity
          loss of function allele
          P-element activity
          loss of function allele
          Delta2-3 transposase
          loss of function allele
          ethyl methanesulfonate
          loss of function allele
          Delta2-3 transposase
          loss of function allele
          Delta2-3 transposase
          loss of function allele
          X ray
          loss of function allele
          X ray
          amorphic allele - genetic evidence
          gamma ray
          loss of function allele
          X ray
          loss of function allele
          X ray
          loss of function allele
          X ray
          loss of function allele
          X ray
          loss of function allele
          gamma ray
          loss of function allele
          gamma ray
          loss of function allele
          P-element activity
          loss of function allele
          X ray
          amorphic allele - genetic evidence
          P-element activity
          amorphic allele - molecular evidence
          CRISPR/Cas9
          amorphic allele - molecular evidence
          CRISPR/Cas9
          amorphic allele - molecular evidence
          CRISPR/Cas9
          amorphic allele - molecular evidence
          ethyl methanesulfonate
          References (30)