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Aliases for DLL3 Gene

Aliases for DLL3 Gene

  • Delta-Like 3 (Drosophila) 2 3
  • Drosophila Delta Homolog 3 3 4
  • Delta3 3 4
  • SCDO1 3 6
  • Delta (Drosophila)-Like 3 2
  • Delta-Like Protein 3 3

External Ids for DLL3 Gene

Summaries for DLL3 Gene

Entrez Gene Summary for DLL3 Gene

  • This gene encodes a member of the delta protein ligand family. This family functions as Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. Mutations in this gene cause autosomal recessive spondylocostal dysostosis 1. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for DLL3 Gene

DLL3 (Delta-Like 3 (Drosophila)) is a Protein Coding gene. Diseases associated with DLL3 include spondylocostal dysostosis 1, autosomal recessive and cascade stomach. Among its related pathways are Neural Crest Differentiation and Wnt / Hedgehog / Notch. GO annotations related to this gene include Notch binding. An important paralog of this gene is NOTCH2.

UniProtKB/Swiss-Prot for DLL3 Gene

  • Inhibits primary neurogenesis. May be required to divert neurons along a specific differentiation pathway. Plays a role in the formation of somite boundaries during segmentation of the paraxial mesoderm (By similarity).

Gene Wiki entry for DLL3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DLL3 Gene

Genomics for DLL3 Gene

Genomic Location for DLL3 Gene

39,498,895 bp from pter
39,508,481 bp from pter
9,587 bases
Plus strand

Genomic View for DLL3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DLL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DLL3 Gene

Regulatory Elements for DLL3 Gene

Proteins for DLL3 Gene

  • Protein details for DLL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Delta-like protein 3
    Protein Accession:
    Secondary Accessions:
    • E9PFG2
    • Q8NBS4

    Protein attributes for DLL3 Gene

    618 amino acids
    Molecular mass:
    64618 Da
    Quaternary structure:
    • Can bind and activate Notch-1 or another Notch receptor.

    Alternative splice isoforms for DLL3 Gene


neXtProt entry for DLL3 Gene

Proteomics data for DLL3 Gene at MOPED

Post-translational modifications for DLL3 Gene

  • Ubiquitinated by MIB (MIB1 or MIB2), leading to its endocytosis and subsequent degradation.

Other Protein References for DLL3 Gene

No data available for DME Specific Peptides for DLL3 Gene

Domains for DLL3 Gene


  • The DSL domain is required for binding to the Notch receptor:
    • Q9NYJ7
  • Contains 1 DSL domain.:
    • Q9NYJ7
  • Contains 6 EGF-like domains.:
    • Q9NYJ7
genes like me logo Genes that share domains with DLL3: view

No data available for Gene Families for DLL3 Gene

Function for DLL3 Gene

Molecular function for DLL3 Gene

UniProtKB/Swiss-Prot Function: Inhibits primary neurogenesis. May be required to divert neurons along a specific differentiation pathway. Plays a role in the formation of somite boundaries during segmentation of the paraxial mesoderm (By similarity).

Gene Ontology (GO) - Molecular Function for DLL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005112 Notch binding NAS 10742114
GO:0005509 calcium ion binding --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with DLL3: view
genes like me logo Genes that share phenotypes with DLL3: view

Animal Models for DLL3 Gene

MGI Knock Outs for DLL3:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for DLL3 Gene

Localization for DLL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DLL3 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

Jensen Localization Image for DLL3 Gene COMPARTMENTS Subcellular localization image for DLL3 gene
Compartment Confidence
plasma membrane 3
cytosol 1
extracellular 1
lysosome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for DLL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane NAS 10742114
genes like me logo Genes that share ontologies with DLL3: view

Pathways for DLL3 Gene

genes like me logo Genes that share pathways with DLL3: view

Pathways by source for DLL3 Gene

1 R&D Systems pathway for DLL3 Gene
1 Cell Signaling Technology pathway for DLL3 Gene
1 KEGG pathway for DLL3 Gene

Interacting Proteins for DLL3 Gene

Gene Ontology (GO) - Biological Process for DLL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IMP 10742114
GO:0001756 somitogenesis IEA --
GO:0007219 Notch signaling pathway IEA --
GO:0007275 multicellular organismal development --
GO:0007386 compartment pattern specification IEA --
genes like me logo Genes that share ontologies with DLL3: view

Transcripts for DLL3 Gene

Unigene Clusters for DLL3 Gene

Delta-like 3 (Drosophila):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DLL3 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9
SP1: -
SP2: -
SP3: - - - -

Relevant External Links for DLL3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DLL3 Gene

mRNA expression in normal human tissues for DLL3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DLL3 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (6.3), Brain - Amygdala (5.6), Brain - Putamen (basal ganglia) (4.9), Brain - Hypothalamus (4.6), Brain - Hippocampus (4.5), and Brain - Caudate (basal ganglia) (4.2).

SOURCE GeneReport for Unigene cluster for DLL3 Gene Hs.127792

genes like me logo Genes that share expressions with DLL3: view

Orthologs for DLL3 Gene

This gene was present in the common ancestor of animals.

Orthologs for DLL3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DLL3 36
  • 98.24 (n)
  • 98.13 (a)
DLL3 37
  • 98 (a)
(Bos Taurus)
Mammalia DLL3 36
  • 86.94 (n)
  • 88.25 (a)
DLL3 37
  • 86 (a)
(Canis familiaris)
Mammalia DLL3 36
  • 83.6 (n)
  • 84.54 (a)
DLL3 37
  • 91 (a)
(Mus musculus)
Mammalia Dll3 36
  • 81.65 (n)
  • 83.59 (a)
Dll3 16
Dll3 37
  • 84 (a)
(Monodelphis domestica)
Mammalia DLL3 37
  • 49 (a)
(Rattus norvegicus)
Mammalia Dll3 36
  • 81.14 (n)
  • 83.08 (a)
fruit fly
(Drosophila melanogaster)
Insecta wry 37
  • 10 (a)
Species with no ortholog for DLL3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for DLL3 Gene

Gene Tree for DLL3 (if available)
Gene Tree for DLL3 (if available)

Paralogs for DLL3 Gene

Selected SIMAP similar genes for DLL3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with DLL3: view

Variants for DLL3 Gene

Sequence variations from dbSNP and Humsavar for DLL3 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs14635 Benign 39,507,492(+) CGTGC(G/T)CCGCC reference, missense
rs733699 -- 39,503,873(-) AGAGA(C/T)GAGGT intron-variant
rs958728 -- 39,504,755(-) TGCCA(C/T)CTCTG intron-variant
rs1055148 -- 39,508,342(-) AACTC(A/C)AAAGC utr-variant-3-prime
rs1055331 -- 39,507,530(-) AGCCA(A/G)CAAGC reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for DLL3 Gene

Variant ID Type Subtype PubMed ID
dgv3863n71 CNV Loss 21882294
nsv523856 CNV Loss 19592680
dgv3864n71 CNV Loss 21882294

Relevant External Links for DLL3 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

Disorders for DLL3 Gene

(1) OMIM Diseases for DLL3 Gene (602768)


  • Spondylocostal dysostosis 1, autosomal recessive (SCDO1) [MIM:277300]: A condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life. {ECO:0000269 PubMed:10742114}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for DLL3 Gene

(2) Novoseek inferred disease relationships for DLL3 Gene

Disease -log(P) Hits PubMed IDs
dysostosis 92.6 4
dysplasia 28.3 1

Relevant External Links for DLL3

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with DLL3: view

Publications for DLL3 Gene

  1. Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. (PMID: 10742114) Bulman M.P. … Turnpenny P.D. (Nat. Genet. 2000) 2 3 4 23
  2. Axial skeletal defects caused by mutation in the spondylocostal dysplasia/pudgy gene Dll3 are associated with disruption of the segmentation clock within the presomitic mesoderm. (PMID: 11923214) Dunwoodie S.L. … Beddington R.S. (Development 2002) 3 23 49
  3. A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3. (PMID: 10364530) Turnpenny P.D. … Ellard S. (Am. J. Hum. Genet. 1999) 2 3
  4. Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis. (PMID: 12746394) Turnpenny P.D. … Ellard S. (J. Med. Genet. 2003) 3 23
  5. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PMID: 19453261) Yerges L.M. … Zmuda J.M. (J. Bone Miner. Res. 2009) 3 49

Products for DLL3 Gene

Sources for DLL3 Gene

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