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Aliases for DLL3 Gene

Aliases for DLL3 Gene

  • Delta-Like 3 (Drosophila) 2 3 5
  • Drosophila Delta Homolog 3 3 4
  • Delta3 3 4
  • Delta (Drosophila)-Like 3 2
  • SCDO1 3

External Ids for DLL3 Gene

Previous GeneCards Identifiers for DLL3 Gene

  • GC19P040630
  • GC19P040380
  • GC19P044665
  • GC19P044682
  • GC19P044683
  • GC19P044684
  • GC19P039989
  • GC19P036435

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 spondylocostal dysostosis, autosomal recessive. Among its related pathways are Notch signaling pathway (KEGG) and Wnt / Hedgehog / Notch. GO annotations related to this gene include calcium ion binding and Notch binding. An important paralog of this gene is NOTCH2NL.

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

Regulatory Elements for DLL3 Gene

Enhancers for DLL3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DLL3 on UCSC Golden Path with GeneCards custom track

Genomic Location for DLL3 Gene

Chromosome:
19
Start:
39,498,895 bp from pter
End:
39,508,481 bp from pter
Size:
9,587 bases
Orientation:
Plus strand

Genomic View for DLL3 Gene

Genes around DLL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DLL3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DLL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DLL3 Gene

Proteins for DLL3 Gene

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

    Protein Symbol:
    Q9NYJ7-DLL3_HUMAN
    Recommended name:
    Delta-like protein 3
    Protein Accession:
    Q9NYJ7
    Secondary Accessions:
    • E9PFG2
    • Q8NBS4

    Protein attributes for DLL3 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DLL3 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for DLL3 (DLL3)

No data available for DME Specific Peptides for DLL3 Gene

Domains & Families for DLL3 Gene

Suggested Antigen Peptide Sequences for DLL3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NYJ7

UniProtKB/Swiss-Prot:

DLL3_HUMAN :
  • The DSL domain is required for binding to the Notch receptor.
Domain:
  • The DSL domain is required for binding to the Notch receptor.
  • Contains 1 DSL domain.
  • Contains 6 EGF-like domains.
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).
genes like me logo Genes that share phenotypes with DLL3: view

Human Phenotype Ontology for DLL3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DLL3 Gene

MGI Knock Outs for DLL3:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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

COMPARTMENTS
Jensen Localization Image for DLL3 Gene COMPARTMENTS Subcellular localization image for DLL3 gene
Compartment Confidence
plasma membrane 4
cytosol 1
extracellular 1
lysosome 1
nucleus 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for DLL3 Gene

Pathways & Interactions for DLL3 Gene

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

Pathways by source for DLL3 Gene

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

Interacting Proteins for DLL3 Gene

SIGNOR curated interactions for DLL3 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for DLL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007219 Notch signaling pathway IEA --
GO:0007386 compartment pattern specification IEA --
GO:0009888 tissue development IEA --
GO:0030154 cell differentiation IEA --
GO:0048339 paraxial mesoderm development IEA --
genes like me logo Genes that share ontologies with DLL3: view

Drugs & Compounds for DLL3 Gene

(2) Drugs for DLL3 Gene - From: ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Antibodies Pharma 5531
Immunoglobulins Pharma 5531
genes like me logo Genes that share compounds 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: - - - -
SP4:

Relevant External Links for DLL3 Gene

GeneLoc Exon Structure for
DLL3
ECgene alternative splicing isoforms for
DLL3

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) (x6.3), Brain - Amygdala (x5.6), Brain - Putamen (basal ganglia) (x4.9), Brain - Hypothalamus (x4.6), Brain - Hippocampus (x4.5), and Brain - Caudate (basal ganglia) (x4.2).

SOURCE GeneReport for Unigene cluster for DLL3 Gene Hs.127792

genes like me logo Genes that share expression patterns with DLL3: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for DLL3 Gene

Orthologs for DLL3 Gene

This gene was present in the common ancestor of animals.

Orthologs for DLL3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DLL3 35
  • 86.94 (n)
  • 88.25 (a)
DLL3 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DLL3 35
  • 83.6 (n)
  • 84.54 (a)
DLL3 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dll3 35
  • 81.65 (n)
  • 83.59 (a)
Dll3 16
Dll3 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DLL3 35
  • 98.24 (n)
  • 98.13 (a)
DLL3 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dll3 35
  • 81.14 (n)
  • 83.08 (a)
oppossum
(Monodelphis domestica)
Mammalia DLL3 36
  • 49 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta wry 36
  • 10 (a)
OneToMany
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

ENSEMBL:
Gene Tree for DLL3 (if available)
TreeFam:
Gene Tree for DLL3 (if available)

Paralogs for DLL3 Gene

(4) 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
VAR_009952 Spondylocostal dysostosis 1, autosomal recessive (SCDO1)
rs1110627 - 39,504,071(-) ACACC(A/G)CTATG reference, missense
VAR_046782 -
rs55741253 - 39,502,830(+) GAGCC(A/T)GCTGG reference, missense
rs8107127 - 39,502,920(+) GCGCT(G/T)CTCGT reference, missense

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

Variation tolerance for DLL3 Gene

Gene Damage Index Score: 7.30; 81.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DLL3 Gene

HapMap Linkage Disequilibrium report
DLL3
Human Gene Mutation Database (HGMD)
DLL3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DLL3 Gene

Disorders for DLL3 Gene

MalaCards: The human disease database

(12) MalaCards diseases for DLL3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spondylocostal dysostosis 1, autosomal recessive
  • jarcho-levin syndrome
spondylocostal dysostosis, autosomal recessive
  • jarcho-levin syndrome
dll3-related spondylocostal dysostosis, autosomal recessive
  • jarcho-levin syndrome
dysostosis
  • dysostoses
syndactyly, type iv
  • syndactyly type 4
- elite association - COSMIC cancer census association via MalaCards
Search DLL3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DLL3_HUMAN
  • 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.

Relevant External Links for DLL3

Genetic Association Database (GAD)
DLL3
Human Genome Epidemiology (HuGE) Navigator
DLL3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DLL3
genes like me logo Genes that share disorders with DLL3: view

No data available for Genatlas for DLL3 Gene

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 67
  2. 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
  3. 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
  4. 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
  5. Delta-likeA 3 is silenced by methylation and induces apoptosis in human hepatocellular carcinoma. (PMID: 23337976) Maemura K. … Otsuki Y. (Int. J. Oncol. 2013) 3

Products for DLL3 Gene

Sources for DLL3 Gene

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