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Aliases for DLL3 Gene

Aliases for DLL3 Gene

  • Delta Like Canonical Notch Ligand 3 2 3 5
  • Drosophila Delta Homolog 3 3 4
  • Delta3 3 4
  • Delta (Drosophila)-Like 3 2
  • Delta-Like 3 (Drosophila) 2
  • Delta-Like Protein 3 3
  • Delta-Like 3 3
  • 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 Canonical Notch Ligand 3) 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 Glioma. GO annotations related to this gene include calcium ion binding and Notch binding. An important paralog of this gene is SLIT1.

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F039551 1.4 FANTOM5 Ensembl ENCODE 11 +53.3 53328 1.6 CTCF ZNF384 ZNF2 RAD21 ZNF324 GATA3 SCRT2 ZNF143 SMC3 ZNF362 PLEKHG2 ZFP36 DLL3 TIMM50 RPS16 MED29 PAF1 EID2 LOC105372399 ENSG00000269188
GH19F039553 0.7 Ensembl 11 +54.4 54406 0.2 ZFP69B ZNF692 DLL3 TIMM50 PLEKHG2 ZFP36 LOC105372399 ENSG00000269188
GH19F039422 0.2 ENCODE 10.9 -75.7 -75682 1.6 MAFG REST GLIS2 ZNF316 RAD51 POLR2A IKZF1 EED ZNF600 TIMM50 RPS16 EID2B DLL3 GC19P039427 PLEKHG2
GH19F039546 0.4 ENCODE 10.7 +47.9 47921 0.2 PKNOX1 RFX1 HINFP KLF9 BMI1 DLL3 LEUTX LOC105372399 EID2
GH19F039569 0.6 ENCODE 10.7 +70.5 70501 0.2 ZNF280D ZNF133 ZEB2 ZNF518A ZEB1 ZNF547 ZNF24 TRIM28 ZNF558 EID2 EID2B DLL3 CLC ENSG00000269188 LOC105372399
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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

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)
  • Abcam antibodies for 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).

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 IEA --
genes like me logo Genes that share ontologies with DLL3: view
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

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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

Gene Ontology (GO) - Cellular Components for DLL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane NAS 10742114
genes like me logo Genes that share ontologies with DLL3: view

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

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:0001501 skeletal system development IMP 10742114
GO:0001756 somitogenesis IEA --
GO:0007219 Notch signaling pathway IEA --
GO:0007275 multicellular organism development IEA --
GO:0007386 compartment pattern specification 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 6045
Immunoglobulins Pharma 6045
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:

Inhibitory RNA Products

Flow Cytometry Products

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).

NURSA nuclear receptor signaling pathways regulating expression of DLL3 Gene:

DLL3

SOURCE GeneReport for Unigene cluster for DLL3 Gene:

Hs.127792
genes like me logo Genes that share expression patterns with DLL3: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia DLL3 34 35
  • 98.24 (n)
cow
(Bos Taurus)
Mammalia DLL3 34 35
  • 86.94 (n)
dog
(Canis familiaris)
Mammalia DLL3 34 35
  • 83.6 (n)
mouse
(Mus musculus)
Mammalia Dll3 34 16 35
  • 81.65 (n)
rat
(Rattus norvegicus)
Mammalia Dll3 34
  • 81.14 (n)
oppossum
(Monodelphis domestica)
Mammalia DLL3 35
  • 49 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta wry 35
  • 10 (a)
OneToMany
Species where no ortholog for DLL3 was found in the sources mined by GeneCards:
  • 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

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
rs104894674 Spondylocostal dysostosis 1, autosomal recessive (SCDO1) [MIM:277300], Pathogenic 39,507,099(+) CGCGG(A/G)TCCTC reference, missense
rs104894675 Pathogenic 39,504,130(+) AATGC(C/T)GATGC reference, stop-gained
rs104894676 Pathogenic 39,507,456(+) CGCGG(A/G)CGTGG reference, missense
rs786200899 Pathogenic 39,503,008(+) GCGGT(-/GCGGT)CCGGG reference, frameshift-variant
rs786200900 Pathogenic 39,505,303(+) GTGAC(-/AT)GTGCA reference, frameshift-variant

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

Variant ID Type Subtype PubMed ID
nsv1114009 CNV deletion 24896259
nsv1127684 CNV deletion 24896259
nsv523856 CNV loss 19592680
nsv953573 CNV deletion 24416366

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

Human Gene Mutation Database (HGMD)
DLL3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
  • spondylocostal dysostosis
spondylocostal dysostosis, autosomal recessive
  • costovertebral dysplasia
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 22 64
  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 22 46 64
  3. 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 46 64
  4. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PMID: 16303743) Otsuki T. … Isogai T. (DNA Res. 2005) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for DLL3 Gene

Sources for DLL3 Gene

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