FB2024_03 , released June 25, 2024
Gene: Dmel\E(spl)m2-BFM
Open Close
General Information
Symbol
Dmel\E(spl)m2-BFM
Species
D. melanogaster
Name
Enhancer of split m2, Bearded family member
Annotation Symbol
CG6104
Feature Type
protein_coding_gene
FlyBase ID
FBgn0002592
Gene Model Status
Current
Stock Availability
3 publicly available
Gene Summary
Part of the Notch signaling pathway. (UniProt, O97177)
Contribute a Gene Snapshot for this gene.
All Summaries
Also Known As

m2, E(spl)m2, E(spl) region transcript m2, E(spl)

Key Links
Genomic Location
Cytogenetic map
96F10-96F10
Sequence location
Recombination map
3-89
RefSeq locus
NT_033777 REGION:26016514..26017470
Sequence
Get Decorated FASTA
Genomic Maps
Other Genome Views
The following external sites may use different assemblies or annotations than FlyBase.
NCBI
UCSC
Ensembl
PopFly
Function
Gene Ontology (GO) Annotations (5 terms)
Molecular Function (2 terms)
Terms Based on Experimental Evidence (1 term)
CV Term
Evidence
References
NOT enables ubiquitin protein ligase binding
inferred from direct assay
(Bardin and Schweisguth, 2006)
Terms Based on Predictions or Assertions (0 terms)
Biological Process (4 terms)
Terms Based on Experimental Evidence (3 terms)
CV Term
Evidence
References
involved_in cell fate specification
inferred from mutant phenotype
(Lai et al., 2000)
involved_in positive regulation of Notch signaling pathway
inferred from mutant phenotype
(Lai et al., 2000)
involved_in sensory organ development
inferred from mutant phenotype
(Lai et al., 2000)
Terms Based on Predictions or Assertions (2 terms)
CV Term
Evidence
References
involved_in Notch signaling pathway
inferred from electronic annotation with InterPro:IPR029686
(InterPro Project Members, 2004-)
involved_in sensory organ development
inferred from electronic annotation with InterPro:IPR029686
(InterPro Project Members, 2004-)
Cellular Component (1 term)
Terms Based on Experimental Evidence (0 terms)
Terms Based on Predictions or Assertions (0 terms)
Gene Group (FlyBase)
Pathway (FlyBase)
Protein Family (UniProt)
-
Protein Signatures (InterPro)
Summaries
Gene Group (FlyBase)
ENHANCER OF SPLIT GENE COMPLEX -
The Enhancer of split complex (E(spl)-C) of D.mel is a well characterized genetic locus on chromosome 3R containing 12 genes - with the exception of Kaz-m1, all are Notch responsive. Seven genes are basic helix-loop-helix (bHLH) transcription factors, four are bearded family genes. Kaz-m1 is unrelated, sharing some sequence similarity to Kazal class protease inhibitors. (Adapted from FBrf0211195).
BEARDED GENE FAMILY -
The Bearded gene family, named from homology with Brd, encode small proteins containing predicted basic amphipathic α-helical domains in their N-terminal regions. They are located in two genomic complexes - the Bearded Complex and the Enhancer of Split Complex. Some members have been implicated in Notch signaling. (Adapted from FBrf0123097).
Pathway (FlyBase)
Positive 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. Positive regulators of the pathway enhance the signal from the sending cell or the response in the receiving cell. (Adapted from FBrf0225731 and FBrf0192604).
Protein Function (UniProtKB)
Part of the Notch signaling pathway.
(UniProt, O97177)
Gene Model and Products
Number of Transcripts
1
Number of Unique Polypeptides
1

Please see the JBrowse view of Dmel\E(spl)m2-BFM 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 O97177)

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
Comments on Gene Model

Gene model reviewed during 5.42

Gene model reviewed during 5.53

Sequence Ontology: Class of Gene
nuclear_gene
protein_coding_gene
Transcript Data
Annotated Transcripts
Name
FlyBase ID
RefSeq ID
Length (nt)
Assoc. CDS (aa)
E(spl)m2-BFM-RA
FBtr0084981
NM_079784
957
218
Additional Transcript Data and Comments
Reported size (kB)

0.9 (northern blot)

(Knust et al., 1987)
Comments
External Data
Crossreferences
Polypeptide Data
Annotated Polypeptides
Name
FlyBase ID
Predicted MW (kDa)
Length (aa)
Theoretical pI
UniProt
RefSeq ID
GenBank
E(spl)m2-BFM-PA
FBpp0084354
24.1
218
6.94
O97177
NP_524508
AAF56549
Polypeptides with Identical Sequences

There is only one protein coding transcript and one polypeptide associated with this gene

Additional Polypeptide Data and Comments
Reported size (kDa)

218 (aa)

(Wurmbach et al., 1999)
Comments
External Data
Crossreferences
InterPro - A database of protein families, domains and functional sites
Linkouts
Sequences Consistent with the Gene Model
Nucleotide / Polypeptide Records
 
UniProt
Mapped Features

Click to get a list of regulatory features (enhancers, TFBS, etc.) and gene disruptions (point mutations, indels, etc.) within or overlapping Dmel\E(spl)m2-BFM 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).

-0.48

Transcript Expression
in situ
Stage
Tissue/Position (including subcellular localization)
Reference
embryonic stage 4 -- 6
organism | faint | ubiquitous
(Fisher et al., 2012)
embryonic stage 7 -- 8
organism | faint | ubiquitous
(Fisher et al., 2012)
embryonic stage 9
ventral neurectoderm
(Wurmbach et al., 1999)
embryonic stage 9 -- 10
antennal primordium

Comment: reported as procephalic ectoderm primordium

(Fisher et al., 2012)
central brain primordium

Comment: reported as procephalic ectoderm primordium

(Fisher et al., 2012)
visual primordium

Comment: reported as procephalic ectoderm primordium

(Fisher et al., 2012)
dorsal head epidermis primordium

Comment: reported as procephalic ectoderm primordium

(Fisher et al., 2012)
lateral head epidermis primordium

Comment: reported as procephalic ectoderm primordium

(Fisher et al., 2012)
ventral head epidermis primordium

Comment: reported as procephalic ectoderm primordium

(Fisher et al., 2012)
posterior endoderm
(Fisher et al., 2012)
embryonic stage 10 -- 11
mesoderm | presumptive
(Wurmbach et al., 1999)
embryonic stage 11 -- 12
central brain primordium
(Fisher et al., 2012)
dorsal epidermis primordium
(Fisher et al., 2012)
foregut primordium
(Fisher et al., 2012)
posterior midgut primordium
(Fisher et al., 2012)
tracheal primordium
(Fisher et al., 2012)
ventral epidermis primordium
(Fisher et al., 2012)
embryonic stage 12 -- 16
embryonic/larval tracheal section
(Chung et al., 2011)
embryonic stage 13 -- 15
muscle founder cell
(Lai et al., 2000)
embryonic stage 13 -- 16
embryonic dorsal epidermis
(Fisher et al., 2012)
embryonic epipharynx
(Fisher et al., 2012)
embryonic esophagus
(Fisher et al., 2012)
embryonic foregut
(Fisher et al., 2012)
embryonic head sensory system
(Fisher et al., 2012)
embryonic hindgut
(Fisher et al., 2012)
embryonic ventral epidermis
(Fisher et al., 2012)
embryonic/larval midgut
(Fisher et al., 2012)
embryonic/larval midgut interstitial cell
(Fisher et al., 2012)
sensory nervous system primordium
(Fisher et al., 2012)
third instar larval stage
eye disc morphogenetic furrow | vicinity of
(Lai et al., 2000, Wurmbach et al., 1999)
proneural cluster
(Wurmbach et al., 1999)
proneural cluster of wing disc
(Lai et al., 2000, Wurmbach et al., 1999)
wing disc | restricted
(Wurmbach et al., 1999)
eye disc
(Wurmbach et al., 1999)
wing vein | precursor
(Lai et al., 2000)
Johnston organ | precursor
(Lai et al., 2000)
eye disc posterior to the morphogenetic furrow
(Wurmbach et al., 1999)
dorsal-ventral compartment boundary of the wing disc
(Lai et al., 2000)
prepupal stage P2
segment of leg | distal
(Lai et al., 2000)
pupal stage P6
wing vein | surrounding

Comment: expression flanks developing wing veins

(Lai et al., 2000)
northern blot
Stage
Tissue/Position (including subcellular localization)
Reference
embryonic stage
(Knust et al., 1987)
embryonic stage 16 -- 17

Comment: reference states 14-20 hr AEL

(Knust et al., 1987)
RT-PCR
Stage
Tissue/Position (including subcellular localization)
Reference
wandering third instar larval stage
organism
(Maeder et al., 2009)
prepupal stage
organism
(Maeder et al., 2009)
Additional Descriptive Data

E(spl) genes were found to be differentially expressed during metamorphosis. E(spl)m2-BFM is one of 5 genes that shows an increase in expression at 2-3 hours post-puparium formation.

(Maeder et al., 2009)

In the wing disc, adepithelial cells that express m2 transcript also express twi protein.

(Lai et al., 2000)

m2 transcripts are first detcted in a dynamic pattern in the neurectoderm in stage 9 embryos. In stages 10 and 11, they accumulate at a high level in the presumptive mesoderm but disappear quickly with the onset of germ band retraction. m2 transcripts are expressed at a low level in discs. In the eye disc, expression is observed close to and posterior to the morphogenetic furrow. In wing discs, staining is observed in areas of proneural clusters as well as in the dorso-ventral boundary and the vein/intervein regions.

(Wurmbach et al., 1999)

The peak of m2 expression during embryogenesis occurs at 14-20 hours. By in situ hybridization, m2 expression is detected at low levels ubiquitously throughout embryogenesis.

(Knust et al., 1987)
Marker for
 
Subcellular Localization
CV Term
Polypeptide Expression
Additional Descriptive Data
Marker for
 
Subcellular Localization
CV Term
Evidence
References
Expression Deduced from Reporters
High-Throughput Expression Data
Associated Tools

JBrowse - Visual display of RNA-Seq signals

View Dmel\E(spl)m2-BFM in JBrowse
Bulk Downloads
RNA-Seq RPKM values for all genes
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
Flygut - An atlas of the Drosophila adult midgut
Images
FlyExpress - Embryonic expression images (BDGP data)
  • Stages(s) 1-3
  • Stages(s) 4-6
  • Stages(s) 9-10
  • Stages(s) 11-12
FlyBase Wiki
Image Based Resources
Alleles, Insertions, Transgenic Constructs, and Aberrations
Classical and Insertion Alleles ( 0 )
For All Classical and Insertion Alleles Show
 
Other relevant insertions
Transgenic Constructs ( 5 )
For All Alleles Carried on Transgenic Constructs Show
Transgenic constructs containing/affecting coding region of E(spl)m2-BFM
Transgenic constructs containing regulatory region of E(spl)m2-BFM
Aberrations (Deficiencies and Duplications) ( 7 )
Variants
Variant Molecular Consequences
Alleles Representing Disease-Implicated Variants
Phenotypes
Orthologs
Downloads
Download All DIOPT Orthologs
Human Orthologs (via DIOPT v9.1)
Species\Gene Symbol
Score
Best Score
Best Reverse Score
Source
Compara
Domainoid
eggNOG
Hieranoid
Homologene
Inparanoid
OMA
OrthoDB
OrthoFinder
OrthoInspector
orthoMCL
Panther
Phylome
SonicParanoid
Alignment
Complementation?
Transgene?
Homo sapiens (Human) (0)
Model Organism Orthologs (via DIOPT v9.1)
Species\Gene Symbol
Score
Best Score
Best Reverse Score
Source
Compara
Domainoid
eggNOG
Hieranoid
Homologene
Inparanoid
OMA
OrthoDB
OrthoFinder
OrthoInspector
orthoMCL
Panther
Phylome
SonicParanoid
Alignment
Complementation?
Transgene?
Rattus norvegicus (Norway rat) (0)
Mus musculus (laboratory mouse) (0)
Xenopus tropicalis (Western clawed frog) (0)
Danio rerio (Zebrafish) (0)
Caenorhabditis elegans (Nematode, roundworm) (0)
Anopheles gambiae (African malaria mosquito) (0)
Arabidopsis thaliana (thale-cress) (0)
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:E(spl)m2-BFM. Refer to their site for version information.
Paralogs
Downloads
Download All DIOPT Paralogs
Paralogs (via DIOPT v9.1)
Human Disease Associations
FlyBase Human Disease Model Reports
    Disease Ontology (DO) Annotations
    Models Based on Experimental Evidence ( 0 )
    Allele
    Disease
    Evidence
    References
    Potential Models Based on Orthology ( 0 )
    Human Ortholog
    Disease
    Evidence
    References
    Modifiers Based on Experimental Evidence ( 0 )
    Allele
    Disease
    Interaction
    References
    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.
    Homo sapiens (Human)
    Gene name
    Score
    OMIM
    OMIM Phenotype
    DO term
    Complementation?
    Transgene?
    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.
    Interactions
    Summary of Physical Interactions
    esyN Network Diagram
    Other Interaction Browsers
    Summary of Genetic Interactions
    esyN Network Diagram
    Other Interaction Browsers
    Starting gene(s)
    Interaction type
    Interacting gene(s)
    Reference
    Starting gene(s)
    Interaction type
    Interacting gene(s)
    Reference
    External Data
    Linkouts
    DroID - A comprehensive database of gene and protein interactions.
    Pathways
    Signaling Pathways (FlyBase)
    Positive 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. Positive regulators of the pathway enhance the signal from the sending cell or the response in the receiving cell. (Adapted from FBrf0225731 and FBrf0192604).
    Metabolic Pathways
    External Data
    Linkouts
    Genomic Location and Detailed Mapping Data
    Chromosome (arm)
    3R
    Recombination map
    3-89
    Cytogenetic map
    96F10-96F10
    Sequence location
    FlyBase Computed Cytological Location
    Cytogenetic map
    Evidence for location
    96F10-96F10
    Limits computationally determined from genome sequence between P{PZ}l(3)rQ197rQ197 and P{lacW}scribj7B3
    Experimentally Determined Cytological Location
    Cytogenetic map
    Notes
    References
    96F11-96F14
    (Wurmbach, 1998.8.16)
    Experimentally Determined Recombination Data
    Location

    3-89

    (FlyBase, 2016)

    3-87.4

    (Comeron et al., 2012)

    3-89.1

    Left of (cM)
    Right of (cM)
    Notes
    Stocks and Reagents
    Stocks (3)
    Genomic Clones (13)
     

    Please Note FlyBase no longer curates genomic clone accessions so this list may not be complete

    cDNA Clones (100)
     

    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)
      BDGP DGC clones
      Other clones
      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

          m2 and m6 are direct targets of regulation by the N-activated Su(H) transcription factor. Overall orientation not stated: HLHmδ+ HLHmγ+ HLHmβ- mα+ m1+ m2- HLHm3+ m4- HLHm5- m6+ HLHm7+ E(spl)+ gro+

          (Lai et al., 2000)

          Overexpression of m2 or m6 interferes with N dependent cell fate decisions in adult PNS development. Overexpression of m2 potentiates lateral inhibition.

          (Lai et al., 2000)

          The distinct expression patterns of genes of the E(spl) complex in imaginal tissues depend to a significant degree on the capacity of their transcriptional cis-regulatory apparatus to respond selectively to direct proneural and Su(H)-mediated activation, often in a subset of the territories and cells in which proneural and Su(H) regulation is occurring.

          (Nellesen et al., 1999)

          The bristle loss phenotype of H mutants can be suppressed by deleting components of the E(spl)-complex. The degree of suppression depends on both the number and identity of E(spl)-complex transcription units removed.

          (Bang et al., 1995)

          E(spl) bHLH proteins are turned on in cells which are inhibited from becoming neural by signals from the delaminating neuroblast.

          (Jennings et al., 1995)

          Arrangement and sequence of E(spl)-complex genes in D.melanogaster and D.hydei revealed that the E(spl)-gene, and the structure of complex are highly conserved, suggesting that each individual gene, as well as the organization of the complex, is of functional importance.

          (Maier et al., 1993)
          Relationship to Other Genes
          Source for database merge of
          Additional comments
          Nomenclature History
          Source for database identify of

          Source for identity of: E(spl)m2-BFM m2

          (Artavanis-Tsakonas et al., 2012.8.8)
          Nomenclature comments
          Etymology
          Synonyms and Secondary IDs (10)
          Datasets (0)
          Study focus (0)
          Experimental Role
          Project
          Project Type
          Title
          Study result (0)
          Result
          Result Type
          Title
          External Crossreferences and Linkouts ( 90 )
          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
          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
          FlyMine - An integrated database for Drosophila genomics
          InterPro - A database of protein families, domains and functional sites
          KEGG Genes - Molecular building blocks of life in the genomic space.
          MARRVEL_MODEL - MARRVEL (model organism gene)
          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
          Flygut - An atlas of the Drosophila adult midgut
          References (80)