FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Gene: Dmel\l(2)gd1
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General Information
Symbol
Dmel\l(2)gd1
Species
D. melanogaster
Name
lethal (2) giant discs 1
Annotation Symbol
CG4713
Feature Type
FlyBase ID
FBgn0261983
Gene Model Status
Stock Availability
Gene Summary
lethal (2) giant discs 1 (l(2)gd1) encodes a cytosolic protein conserved in Metazoa. It is involved in the transport of proteins such as signaling receptors through the endosomal pathway. It interacts with the ESCRT-III core component encoded by shrb and is probably required for its full activity. [Date last reviewed: 2019-09-26] (FlyBase Gene Snapshot)
Also Known As

lgd, l(2)gd, lethal (2) giant discs, lethal giant discs, gd

Key Links
Genomic Location
Cytogenetic map
Sequence location
Recombination map
2-44
RefSeq locus
NT_033779 REGION:11106943..11110851
Sequence
Genomic Maps
Other Genome Views
The following external sites may use different assemblies or annotations than FlyBase.
Function
Gene Ontology (GO) Annotations (21 terms)
Molecular Function (4 terms)
Terms Based on Experimental Evidence (1 term)
CV Term
Evidence
References
Terms Based on Predictions or Assertions (3 terms)
CV Term
Evidence
References
Biological Process (13 terms)
Terms Based on Experimental Evidence (12 terms)
CV Term
Evidence
References
inferred from mutant phenotype
inferred from mutant phenotype
inferred from mutant phenotype
inferred from mutant phenotype
inferred from mutant phenotype
inferred from mutant phenotype
inferred from mutant phenotype
inferred from genetic interaction with FLYBASE:Ser; FB:FBgn0004197
inferred from mutant phenotype
inferred from mutant phenotype
inferred from mutant phenotype
inferred from mutant phenotype
Terms Based on Predictions or Assertions (1 term)
CV Term
Evidence
References
Cellular Component (4 terms)
Terms Based on Experimental Evidence (3 terms)
CV Term
Evidence
References
located_in cytoplasm
inferred from direct assay
inferred from direct assay
Terms Based on Predictions or Assertions (1 term)
CV Term
Evidence
References
is_active_in nucleus
inferred from biological aspect of ancestor with PANTHER:PTN000991266
Gene Group (FlyBase)
Protein Family (UniProt)
Belongs to the CC2D1 family. (Q9VKJ9)
Summaries
Gene Snapshot
lethal (2) giant discs 1 (l(2)gd1) encodes a cytosolic protein conserved in Metazoa. It is involved in the transport of proteins such as signaling receptors through the endosomal pathway. It interacts with the ESCRT-III core component encoded by shrb and is probably required for its full activity. [Date last reviewed: 2019-09-26]
Pathway (FlyBase)
NEGATIVE REGULATORS OF NOTCH SIGNALING PATHWAY -
The Notch receptor signaling pathway is activated by the binding of the transmembrane receptor Notch (N) to transmembrane ligands, Dl or Ser, presented on adjacent cells. This results in the proteolytic cleavage of N, releasing the intracellular domain (NICD). NICD translocates into the nucleus, interacting with Su(H) and mam to form a transcription complex, which up-regulates transcription of Notch-responsive genes. Negative regulators of the pathway down-regulate the signal from the sending cell or the response in the receiving cell. (Adapted from FBrf0225731 and FBrf0192604).
Protein Function (UniProtKB)
Phosphatidyl inositol monophosphate binding protein involved in endosomal protein sorting through regulation of the endosomal sorting required for transport (ESCRT) pathway (PubMed:17084357, PubMed:28564595, PubMed:33349255). Required for full activity of the ESCRT-III complex core component shrb/shrub, probably by preventing its inappropriate polymerisation (PubMed:28564595, PubMed:33349255). Required, but not essential, for the efficient generation of intraluminal vesicles (ILVs) in multivesicular bodies (MVBs) (PubMed:33349255). Involved in a late stage of the endosomal pathway targeting transmembrane proteins of the plasma membrane for lysosomal degradation (PubMed:17084357, PubMed:17084358, PubMed:17088062, PubMed:23178945, PubMed:25804739). Plays a critical role in regulation of multiple signal transduction pathways, including the Notch and BMP/decapentaplegic (dpp) signaling pathways, through targeting of membrane bound receptors to multivesicular bodies, isolating them from the cytoplasm and targeting them for lysosomal degradation (PubMed:12648493, PubMed:17084357, PubMed:17084358, PubMed:17088062, PubMed:25804739). Involved in targeting N/Notch for endosomal degradation, negatively regulating the Notch signaling pathway (PubMed:12648493, PubMed:17084357, PubMed:17084358, PubMed:17088062). Regulates Notch signaling in imaginal disk cells and follicle cells during oogenesis and multiple developmental processes, including development of wings, veins, legs, eyes and bristles (PubMed:17084358, PubMed:23178945). Restricts the activity of Notch to the dorsoventral (D/V) boundary of the wing imaginal disk (PubMed:12648493, PubMed:17088062, PubMed:28564595). In external sensory organ development regulates Notch signaling during asymmetric cell division and differentiation of sensory organ precursor cells (PubMed:17084357). May be involved in regulation of apoptosis and cell growth independent of Notch signaling (PubMed:17084358). Involved in targeting tkv for endosomal degradation, negatively regulating the BMP/decapentaplegic (dpp) signaling pathway (PubMed:25804739). Regulates the BMP/dpp signaling pathway in follicle cells during oogenesis, but not in imaginal disk cells during wing development (PubMed:25804739). May be involved in differentiation or morphogenesis of peripodial epithelial cells in the developing imaginal disk (PubMed:23178945). Involved in abscission of germline cells during oogenesis (PubMed:25647097).
(UniProt, Q9VKJ9)
Phenotypic Description (Red Book; Lindsley and Zimm 1992)
l(2)gd1: lethal (2) giant discs
Pupariation delayed, up to nine days in crowded cultures; pupariation is but one day in uncrowded cultures. Discs continue to grow, becoming very large with long delays. Mutant discs transplanted into normal larval hosts metamorphose; cuticular patterns normal but bristles and to a greater degree sensillae and bracts missing; unguis missing from tarsal claws; tarsi two jointed. Mutant discs yield low incidence of trans-determination.
Summary (Interactive Fly)

tumor suppressor - required to restrict the activity of Notch to the D/V boundary of the wing imaginal disc - endosomal transport protein

Gene Model and Products
Number of Transcripts
2
Number of Unique Polypeptides
2

Please see the JBrowse view of Dmel\l(2)gd1 for information on other features

To submit a correction to a gene model please use the Contact FlyBase form

Protein Domains (via Pfam)
Isoform displayed:
Pfam protein domains
InterPro name
classification
start
end
Protein Domains (via SMART)
Isoform displayed:
SMART protein domains
InterPro name
classification
start
end
Structure
Protein 3D structure   (Predicted by AlphaFold)   (AlphaFold entry Q9VKJ9)

If you don't see a structure in the viewer, refresh your browser.
Model Confidence:
  • Very high (pLDDT > 90)
  • Confident (90 > pLDDT > 70)
  • Low (70 > pLDDT > 50)
  • Very low (pLDDT < 50)

AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Some regions with low pLDDT may be unstructured in isolation.

Experimentally Determined Structures
Crossreferences
PDB - An information portal to biological macromolecular structures
Comments on Gene Model

Gene model reviewed during 5.52

Transcript Data
Annotated Transcripts
Name
FlyBase ID
RefSeq ID
Length (nt)
Assoc. CDS (aa)
FBtr0080197
2989
816
FBtr0306138
3043
834
Additional Transcript Data and Comments
Reported size (kB)
Comments
External Data
Crossreferences
Polypeptide Data
Annotated Polypeptides
Name
FlyBase ID
Predicted MW (kDa)
Length (aa)
Theoretical pI
UniProt
RefSeq ID
GenBank
FBpp0079786
89.0
816
5.01
Polypeptides with Identical Sequences

None of the polypeptides share 100% sequence identity.

Additional Polypeptide Data and Comments
Reported size (kDa)
Comments
External Data
Subunit Structure (UniProtKB)

Interacts (via DM14 domains 1 and 3) with shrb; the interaction is direct and blocks access to the surface involved in shrb polymerization (PubMed:22389409, PubMed:27452459, PubMed:28564595). This interaction may be required for the ESCRT-III complex role in multivesicular body formation (PubMed:22389409).

(UniProt, Q9VKJ9)
Domain

The C2 domain mediates interaction with monophosphorylated phosphatidylinositols PtdIns[3]P, PtdIns[4]P and PtdIns[5]P, and is required for membrane interaction (PubMed:17084357). C2 domains can mediate membrane interactions in a Ca(2+)-dependent or -independent manner; the l(2)gd1 C2 domain lacks three out of five asparagines that are crucial for Ca(2+) binding (Probable). The C2 domain is required for protein stability and cytoplasmic localization, and is essential for l(2)gd1 function (PubMed:22389409).

Contains 4 tandem repeats of the DM14 domain that mediate interaction with the ESCRT-III complex component shrb (PubMed:22389409, PubMed:28564595). The 4 DM14 domains show functional redundancy, particularly domains 1 and 3, however domain 3 is necessary and sufficient for l(2)gd1 function (PubMed:22389409, PubMed:28564595). DM14 domain 3 forms an alpha-helical hairpin loop with a positively charged surface patch that binds a negatively charged surface patch on shrb (PubMed:28564595).

(UniProt, Q9VKJ9)
Crossreferences
PDB - An information portal to biological macromolecular structures
Linkouts
Sequences Consistent with the Gene Model
Mapped Features

Click to get a list of regulatory features (enhancers, TFBS, etc.) and gene disruptions (point mutations, indels, etc.) within or overlapping Dmel\l(2)gd1 using the Feature Mapper tool.

External Data
Crossreferences
Eukaryotic Promoter Database - A collection of databases of experimentally validated promoters for selected model organisms.
Linkouts
Expression Data
Testis-specificity index

The testis specificity index was calculated from modENCODE tissue expression data by Vedelek et al., 2018 to indicate the degree of testis enrichment compared to other tissues. Scores range from -2.52 (underrepresented) to 5.2 (very high testis bias).

-1.16

Transcript Expression
Polypeptide Expression
mass spectroscopy
Stage
Tissue/Position (including subcellular localization)
Reference
Additional Descriptive Data
Marker for
 
Subcellular Localization
CV Term
Evidence
References
located_in cytoplasm
inferred from direct assay
inferred from direct assay
Expression Deduced from Reporters
High-Throughput Expression Data
Associated Tools

JBrowse - Visual display of RNA-Seq signals

View Dmel\l(2)gd1 in JBrowse
RNA-Seq by Region - Search RNA-Seq expression levels by exon or genomic region
Reference
See Gelbart and Emmert, 2013 for analysis details and data files for all genes.
Developmental Proteome: Life Cycle
Developmental Proteome: Embryogenesis
External Data and Images
Linkouts
BDGP expression data - Patterns of gene expression in Drosophila embryogenesis
DRscDB - A single-cell RNA-seq resource for data mining and data comparison across species
EMBL-EBI Single Cell Expression Atlas - Single cell expression across species
FlyAtlas - Adult expression by tissue, using Affymetrix Dros2 array
FlyAtlas2 - A Drosophila melanogaster expression atlas with RNA-Seq, miRNA-Seq and sex-specific data
Fly-FISH - A database of Drosophila embryo and larvae mRNA localization patterns
Images
Alleles, Insertions, Transgenic Constructs, and Aberrations
Classical and Insertion Alleles ( 17 )
For All Classical and Insertion Alleles Show
 
Other relevant insertions
Transgenic Constructs ( 51 )
For All Alleles Carried on Transgenic Constructs Show
Transgenic constructs containing/affecting coding region of l(2)gd1
Transgenic constructs containing regulatory region of l(2)gd1
Aberrations (Deficiencies and Duplications) ( 7 )
Variants
Variant Molecular Consequences
Alleles Representing Disease-Implicated Variants
Phenotypes
For more details about a specific phenotype click on the relevant allele symbol.
Lethality
Allele
Other Phenotypes
Allele
Phenotype manifest in
Allele
Orthologs
Human Orthologs (via DIOPT v9.1)
Species\Gene Symbol
Score
Best Score
Best Reverse Score
Alignment
Complementation?
Transgene?
Homo sapiens (Human) (2)
14 of 14
Yes
Yes
8  
13 of 14
No
Yes
 
12  
Model Organism Orthologs (via DIOPT v9.1)
Species\Gene Symbol
Score
Best Score
Best Reverse Score
Alignment
Complementation?
Transgene?
Rattus norvegicus (Norway rat) (2)
14 of 14
Yes
Yes
13 of 14
No
Yes
Mus musculus (laboratory mouse) (2)
14 of 14
Yes
Yes
1  
12 of 14
No
Yes
1  
Xenopus tropicalis (Western clawed frog) (3)
11 of 13
Yes
Yes
10 of 13
No
Yes
1 of 13
No
No
Danio rerio (Zebrafish) (2)
13 of 14
Yes
Yes
12 of 14
No
Yes
Caenorhabditis elegans (Nematode, roundworm) (1)
14 of 14
Yes
Yes
Anopheles gambiae (African malaria mosquito) (1)
12 of 12
Yes
Yes
Arabidopsis thaliana (thale-cress) (1)
1 of 13
Yes
Yes
Saccharomyces cerevisiae (Brewer's yeast) (0)
Schizosaccharomyces pombe (Fission yeast) (0)
Escherichia coli (enterobacterium) (0)
Other Organism Orthologs (via OrthoDB)
Data provided directly from OrthoDB:l(2)gd1. Refer to their site for version information.
Paralogs
Paralogs (via DIOPT v9.1)
Human Disease Associations
FlyBase Human Disease Model Reports
Disease Ontology (DO) Annotations
Models Based on Experimental Evidence ( 1 )
Allele
Disease
Evidence
References
Potential Models Based on Orthology ( 1 )
Modifiers Based on Experimental Evidence ( 1 )
Disease Associations of Human Orthologs (via DIOPT v9.1 and OMIM)
Note that ortholog calls supported by only 1 or 2 algorithms (DIOPT score < 3) are not shown.
Functional Complementation Data
Functional complementation data is computed by FlyBase using a combination of the orthology data obtained from DIOPT and OrthoDB and the allele-level genetic interaction data curated from the literature.
Dmel gene
Ortholog showing functional complementation
Supporting References
Interactions
Summary of Physical Interactions
Summary of Genetic Interactions
Interaction Browsers

Please look at the allele data for full details of the genetic interactions
Starting gene(s)
Interaction type
Interacting gene(s)
Reference
Starting gene(s)
Interaction type
Interacting gene(s)
Reference
enhanceable
suppressible
External Data
Subunit Structure (UniProtKB)
Interacts (via DM14 domains 1 and 3) with shrb; the interaction is direct and blocks access to the surface involved in shrb polymerization (PubMed:22389409, PubMed:27452459, PubMed:28564595). This interaction may be required for the ESCRT-III complex role in multivesicular body formation (PubMed:22389409).
(UniProt, Q9VKJ9 )
Linkouts
DroID - A comprehensive database of gene and protein interactions.
MIST (genetic) - An integrated Molecular Interaction Database
MIST (protein-protein) - An integrated Molecular Interaction Database
Pathways
Signaling Pathways (FlyBase)
Metabolic Pathways
FlyBase
External Links
External Data
Linkouts
Reactome - An open-source, open access, manually curated and peer-reviewed pathway database.
Class of Gene
Genomic Location and Detailed Mapping Data
Chromosome (arm)
2L
Recombination map
2-44
Cytogenetic map
Sequence location
FlyBase Computed Cytological Location
Cytogenetic map
Evidence for location
32D3-32D4
Left limit from in situ hybridisation (FBrf0157097) Right limit from in situ hybridisation (FBrf0157097)
Experimentally Determined Cytological Location
Cytogenetic map
Notes
References
32D3-32D4
Experimentally Determined Recombination Data
Location

2-[41]

Notes
Stocks and Reagents
Stocks (13)
Genomic Clones (23)
cDNA Clones (98)
 

Please Note This section lists cDNAs and ESTs that fall within the genomic extent of the gene model, which may include cDNAs and ESTs of genes within introns, or of overlapping genes. Please see JBrowse for alignment of the cDNAs and ESTs to the gene model.

cDNA clones, fully sequenced
BDGP DGC clones
Other clones
    Drosophila Genomics Resource Center cDNA clones

    For each fully sequenced cDNA the DGRC maintains various forms of the cDNA (e.g tagged or untagged) in several different host vectors for subsequent cloning and expression in Drosophila and Drosophila cell lines.

    cDNA Clones, End Sequenced (ESTs)
    RNAi and Array Information
    Linkouts
    DRSC - Results frm RNAi screens
    Antibody Information
    Laboratory Generated Antibodies
    Commercially Available Antibodies
     
    Cell Line Information
    Publicly Available Cell Lines
     
      Other Stable Cell Lines
       
        Other Comments

        dsRNA has been made from templates generated with primers directed against this gene.

        The l(2)gd1 product regulates N signaling in a manner that is independent of the N ligands, Dl and Ser. The genetic interaction between l(2)gd1 and Hrs, and the accumulation of N protein in subcellular puncta suggests that l(2)gd1 has a role in N protein trafficking.

        l(2)gd1 is required to restrict N activity to the dorsal ventral boundary during wing development.

        l(2)gd1 has a role in wing vein, eye and bristle formation.

        1 allele of l(2)SH0495 recovered in a P-insertion screen.

        Tumor suppressor genes act in combination to control cell proliferation. Tissue hyperplasia can be associated with ectopic expression of genes involved in pattern formation. The enhancement of leg disc duplication in l(2)gd1 mutants by ft is mediated by dpp.

        The third leg disc duplication depends on the expression of wg and dpp.

        Mutants display hyperplastic phenotype, with imaginal disc overgrowth.

        Endocrine mechanisms responsible for the prolongation of larval life in l(2)gd1 mutants were investigated: results suggest that delayed pupariation is caused by the overgrown imaginal discs inhibiting the production or release of ecdysteroids from the endocrine system.

        Mutants at l(2)gd1 exhibit hyperplastic overgrowth.

        Relationship to Other Genes
        Source for database merge of

        Source for merge of: l(2)gd1 CG4713

        Source for merge of: l(2)gd1 l(2)SH0495

        Additional comments
        Nomenclature History
        Source for database identify of
        Nomenclature comments
        Etymology
        Synonyms and Secondary IDs (20)
        Reported As
        Symbol Synonym
        l(2)SH0495
        l(2)SH2 0495
        l(2)giant disc
        Name Synonyms
        CG4713
        Leathal giant disc
        Lethal (2) giant discs
        lethal (2) SH0495
        lethal (2) giant discs 1
        lethal(2) giant discs
        lethal(2)giant discs 1
        Secondary FlyBase IDs
        • FBgn0250747
        • FBgn0002119
        • FBgn0032342
        • FBgn0065753
        Datasets (0)
        Study focus (0)
        Experimental Role
        Project
        Project Type
        Title
        Study result (0)
        Result
        Result Type
        Title
        External Crossreferences and Linkouts ( 47 )
        Sequence Crossreferences
        NCBI Gene - Gene integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.
        GenBank Nucleotide - A collection of sequences from several sources, including GenBank, RefSeq, TPA, and PDB.
        GenBank Protein - A collection of sequences from several sources, including translations from annotated coding regions in GenBank, RefSeq and TPA, as well as records from SwissProt, PIR, PRF, and PDB.
        RefSeq - A comprehensive, integrated, non-redundant, well-annotated set of reference sequences including genomic, transcript, and protein.
        UniProt/GCRP - The gene-centric reference proteome (GCRP) provides a 1:1 mapping between genes and UniProt accessions in which a single 'canonical' isoform represents the product(s) of each protein-coding gene.
        UniProt/Swiss-Prot - Manually annotated and reviewed records of protein sequence and functional information
        UniProt/TrEMBL - Automatically annotated and unreviewed records of protein sequence and functional information
        Other crossreferences
        AlphaFold DB - AlphaFold provides open access to protein structure predictions for the human proteome and other key proteins of interest, to accelerate scientific research.
        BDGP expression data - Patterns of gene expression in Drosophila embryogenesis
        DRscDB - A single-cell RNA-seq resource for data mining and data comparison across species
        EMBL-EBI Single Cell Expression Atlas - Single cell expression across species
        FlyAtlas2 - A Drosophila melanogaster expression atlas with RNA-Seq, miRNA-Seq and sex-specific data
        KEGG Genes - Molecular building blocks of life in the genomic space.
        MARRVEL_MODEL - MARRVEL (model organism gene)
        PDB - An information portal to biological macromolecular structures
        Linkouts
        Drosophila Genomics Resource Center - Drosophila Genomics Resource Center (DGRC) cDNA clones
        DroID - A comprehensive database of gene and protein interactions.
        DRSC - Results frm RNAi screens
        Eukaryotic Promoter Database - A collection of databases of experimentally validated promoters for selected model organisms.
        FlyAtlas - Adult expression by tissue, using Affymetrix Dros2 array
        FlyCyc Genes - Genes from a BioCyc PGDB for Dmel
        Fly-FISH - A database of Drosophila embryo and larvae mRNA localization patterns
        FlyMet - A comprehensive tissue-specific metabolomics resource for Drosophila.
        iBeetle-Base - RNAi phenotypes in the red flour beetle (Tribolium castaneum)
        Interactive Fly - A cyberspace guide to Drosophila development and metazoan evolution
        MIST (genetic) - An integrated Molecular Interaction Database
        MIST (protein-protein) - An integrated Molecular Interaction Database
        Reactome - An open-source, open access, manually curated and peer-reviewed pathway database.
        References (112)