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    DLL4 delta-like 4 (Drosophila) [ Homo sapiens (human) ]

    Gene ID: 54567, updated on 26-Jul-2015
    Official Symbol
    DLL4provided by HGNC
    Official Full Name
    delta-like 4 (Drosophila)provided by HGNC
    Primary source
    HGNC:HGNC:2910
    See related
    Ensembl:ENSG00000128917; HPRD:05540; MIM:605185; Vega:OTTHUMG00000172511
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    hdelta2
    Summary
    This gene is a homolog of the Drosophila delta gene. The delta gene family encodes Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. [provided by RefSeq, Jul 2008]
    Orthologs
    See DLL4 in Epigenomics, MapViewer
    Location:
    15q14
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 15 NC_000015.10 (40929333..40939060)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (41221531..41231258)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene vacuolar protein sorting 18 homolog (S. cerevisiae) Neighboring gene uncharacterized LOC105370943 Neighboring gene iron-sulfur cluster assembly 1 pseudogene 4 Neighboring gene ChaC glutathione-specific gamma-glutamylcyclotransferase 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    NHGRI GWA Catalog
    • Activated NOTCH1 Transmits Signal to the Nucleus, organism-specific biosystem (from REACTOME)
      Activated NOTCH1 Transmits Signal to the Nucleus, organism-specific biosystemMature NOTCH1 heterodimer on the cell surface is activated by one of its ligands: DLL1 (Cordle et al. 2008, Jarriault et al. 1998), DLL4 (Benedito et al. 2009), JAG1 (Li et al. 1998, Benedito et al. ...
    • Constitutive Signaling by NOTCH1 HD Domain Mutants, organism-specific biosystem (from REACTOME)
      Constitutive Signaling by NOTCH1 HD Domain Mutants, organism-specific biosystemThe heterodimerization (HD) domain of NOTCH1, responsible for association of NOTCH1 extracellular and transmembrane regions after furin-mediated cleavage of NOTCH1 precursor, is one of the hotspots f...
    • Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants, organism-specific biosystem (from REACTOME)
      Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants, organism-specific biosystemWhen found in cis, HD and PEST domain mutations act synergistically, increasing NOTCH1 transcriptional activity up to ~40-fold, compared with up to ~10-fold and up to ~2-fold increase with HD mutatio...
    • Constitutive Signaling by NOTCH1 PEST Domain Mutants, organism-specific biosystem (from REACTOME)
      Constitutive Signaling by NOTCH1 PEST Domain Mutants, organism-specific biosystemAs NOTCH1 PEST domain is intracellular, NOTCH1 PEST domain mutants are expected to behave as the wild-type NOTCH1 with respect to ligand binding and proteolytic cleavage mediated activation of signal...
    • Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant, organism-specific biosystem (from REACTOME)
      Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant, organism-specific biosystemNOTCH1 t(7;9)(NOTCH1:M1580_K2555) mutant is expressed in a small subset of T-cell acute lymphoblastic leukemia (T-ALL) patients. This mutant protein results from a translocation that joins a portion ...
    • Delta-Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Delta-Notch Signaling Pathway, organism-specific biosystemThere are 4 Notch receptors in humans (Notch 1-4) that bind to a family of 5 ligands (Jagged 1 and 2 and Delta-like 1-3). The Notch receptors are expressed on the cell surface as heterodimeric protei...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Diseases of signal transduction, organism-specific biosystem (from REACTOME)
      Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
    • NOTCH2 Activation and Transmission of Signal to the Nucleus, organism-specific biosystem (from REACTOME)
      NOTCH2 Activation and Transmission of Signal to the Nucleus, organism-specific biosystemSimilar to NOTCH1, NOTCH2 is activated by Delta-like and Jagged ligands (DLL/JAG) expressed in trans on a neighboring cell (Shimizu et al. 1999, Shimizu et al. 2000, Hicks et al. 2000, Ji et al. 2004...
    • Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
      Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...
    • Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Notch Signaling Pathway, organism-specific biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
    • Notch signaling, organism-specific biosystem (from KEGG)
      Notch signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
    • Notch signaling, conserved biosystem (from KEGG)
      Notch signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
    • Notch signaling pathway, organism-specific biosystem (from KEGG)
      Notch signaling pathway, organism-specific biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
    • Notch signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      Notch signaling pathway, organism-specific biosystem
      Notch signaling pathway
    • Notch signaling pathway, conserved biosystem (from KEGG)
      Notch signaling pathway, conserved biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by NOTCH, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH, organism-specific biosystemThe Notch Signaling Pathway (NSP) is a highly conserved pathway for cell-cell communication. NSP is involved in the regulation of cellular differentiation, proliferation, and specification. For exam...
    • Signaling by NOTCH1, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH1, organism-specific biosystemNOTCH1 functions as both a transmembrane receptor presented on the cell surface and as a transcriptional regulator in the nucleus.NOTCH1 receptor presented on the plasma membrane is activated by a me...
    • Signaling by NOTCH1 HD Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH1 HD Domain Mutants in Cancer, organism-specific biosystemNOTCH1 heterodimerization domain mutations are frequently found in T-cell acute lymphoblastic leukemia (T-ALL) (Weng et al. 2004) and result in constitutive activity of NOTCH1 mutants (Malecki et al....
    • Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer, organism-specific biosystemMutations in the heterodimerization domain (HD) and PEST domain of NOTCH1 are frequently found in cis in T-cell acute lymphoblastic leukemia. While HD mutations alone result in up to ~10-fold increas...
    • Signaling by NOTCH1 PEST Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH1 PEST Domain Mutants in Cancer, organism-specific biosystemNOTCH1 PEST domain mutations are frequently found in T-cell acute lymphoblastic leukemia (T-ALL). PEST domain mutations interfere with ubiquitination-mediated NOTCH1 downregulation and result in prol...
    • Signaling by NOTCH1 in Cancer, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH1 in Cancer, organism-specific biosystemHuman NOTCH1 was cloned as a chromosome 9 gene, translocated to the T-cell beta receptor (TCBR) promoter on chromosome 7 in T-cell acute lymphoblastic leukemia (T-ALL) (Ellisen et al. 1991). This tra...
    • Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant, organism-specific biosystemHuman NOTCH1 was cloned as a chromosome 9 gene, translocated to the T-cell beta receptor (TCBR) promoter on chromosome 7 in T-cell acute lymphoblastic leukemia (T-ALL) (Ellisen et al. 1991). The tran...
    • Signaling by NOTCH2, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH2, organism-specific biosystemNOTCH2 is activated by binding Delta-like and Jagged ligands (DLL/JAG) expressed in trans on neighboring cells (Shimizu et al. 1999, Shimizu et al. 2000, Hicks et al. 2000, Ji et al. 2004). In trans ...
    • Signaling by NOTCH3, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH3, organism-specific biosystemSimilar to NOTCH1, NOTCH3 is activated by delta-like and jagged ligands (DLL/JAG) expressed in trans on a neighboring cell. The activation triggers cleavage of NOTCH3, first by ADAM10 at the S2 cleav...
    • Signaling by NOTCH4, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH4, organism-specific biosystemSimilar to NOTCH1, NOTCH4 is activated by delta-like and jagged ligands (DLL/JAG) expressed in trans on a neighboring cell. The activation triggers cleavage of NOTCH4, first by ADAM10 at the S2 cleav...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC126344

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    Notch binding IEA
    Inferred from Electronic Annotation
    more info
     
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    Notch receptor processing TAS
    Traceable Author Statement
    more info
     
    Notch signaling involved in heart development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Notch signaling pathway TAS
    Traceable Author Statement
    more info
     
    angiogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    blood circulation TAS
    Traceable Author Statement
    more info
    PubMed 
    blood vessel lumenization IEA
    Inferred from Electronic Annotation
    more info
     
    blood vessel remodeling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cardiac atrium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cardiac ventricle morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to fibroblast growth factor stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to vascular endothelial growth factor stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    dorsal aorta morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell migration involved in sprouting angiogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell migration involved in sprouting angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of endothelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    patterning of blood vessels ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    pericardium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of neural precursor cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of neural retina development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of neurogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    ventral spinal cord interneuron fate commitment IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ventricular trabecula myocardium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    delta-like protein 4
    Names
    delta 4
    delta ligand 4
    delta-like 4 homolog
    delta-like 4 protein
    delta4
    drosophila Delta homolog 4
    notch ligand DLL4
    notch ligand delta-2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_019074.3NP_061947.1  delta-like protein 4 precursor

      See identical proteins and their annotated locations for NP_061947.1

      Status: REVIEWED

      Source sequence(s)
      AB036931, AI478830, BC106950, DA089757
      Consensus CDS
      CCDS45232.1
      UniProtKB/Swiss-Prot
      Q9NR61
      Related
      ENSP00000249749, OTTHUMP00000248570, ENST00000249749, OTTHUMT00000418859
      Conserved Domains (3) summary
      cd00054
      Location:327360
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam07657
      Location:2691
      MNNL; N terminus of Notch ligand
      cl19567
      Location:155217
      DSL; Delta serrate ligand

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p2 Primary Assembly

      Range
      40929333..40939060
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018926.2 Alternate CHM1_1.1

      Range
      41339420..41349204
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)