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DLL3 delta like canonical Notch ligand 3 [ Homo sapiens (human) ]

Gene ID: 10683, updated on 5-Mar-2024

Summary

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Official Symbol
DLL3provided by HGNC
Official Full Name
delta like canonical Notch ligand 3provided by HGNC
Primary source
HGNC:HGNC:2909
See related
Ensembl:ENSG00000090932 MIM:602768; AllianceGenome:HGNC:2909
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
SCDO1
Summary
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]
Expression
Restricted expression toward brain (RPKM 16.1) See more
Orthologs
mouse all
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Genomic context

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Location:
19q13.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (39498947..39508469)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (42303204..42312726)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (39989587..39999109)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene SPT5 homolog, DSIF elongation factor subunit Neighboring gene small nucleolar RNA, C/D box 175 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10606 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:39971166-39971760 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14623 Neighboring gene uncharacterized LOC124904718 Neighboring gene translocase of inner mitochondrial membrane 50 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39988291-39989283 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10608 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10609 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10610 Neighboring gene Sharpr-MPRA regulatory region 12203 Neighboring gene selenoprotein V Neighboring gene MPRA-validated peak3477 silencer Neighboring gene EP300 interacting inhibitor of differentiation 2B

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. DLL3 as an Emerging Target for the Treatment of Neuroendocrine Neoplasms. Yao J, et al. Oncologist, 2022 Nov 3. PMID 35983951, Free PMC Article
  2. Delta-like canonical Notch ligand 3 as a potential therapeutic target in malignancies: A brief overview. Matsuo K, et al. Cancer Sci, 2021 Aug. PMID 34107132, Free PMC Article
  3. Diagnostic and Predictive Role of DLL3 Expression in Gastroenteropancreatic Neuroendocrine Neoplasms. Liverani C, et al. Endocr Pathol, 2021 Jun. PMID 33409812
  4. DLL3 expression is a predictive marker of sensitivity to adjuvant chemotherapy for pulmonary LCNEC. Ogawa H, et al. Thorac Cancer, 2020 Sep. PMID 32691982, Free PMC Article
  5. DLL3 expression in large cell neuroendocrine carcinoma (LCNEC) and association with molecular subtypes and neuroendocrine profile. Hermans BCM, et al. Lung Cancer, 2019 Dec. PMID 31678831

See all (44) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. DLL3 as an Emerging Target for the Treatment of Neuroendocrine Neoplasms.
    Title: DLL3 as an Emerging Target for the Treatment of Neuroendocrine Neoplasms.
  2. ASCL1 and DLL3 expressions and their clinicopathological implications in surgically resected pure small cell lung cancer: A study of 247 cases from the National Cancer Center of China.
    Title: ASCL1 and DLL3 expressions and their clinicopathological implications in surgically resected pure small cell lung cancer: A study of 247 cases from the National Cancer Center of China.
  3. TTF-1 and c-MYC-defined Phenotypes of Large Cell Neuroendocrine Carcinoma and Delta-like Protein 3 Expression for Treatment Selection.
    Title: TTF-1 and c-MYC-defined Phenotypes of Large Cell Neuroendocrine Carcinoma and Delta-like Protein 3 Expression for Treatment Selection.
  4. Investigation of Candidate Genes and Pathways in Basal/TNBC Patients by Integrated Analysis.
    Title: Investigation of Candidate Genes and Pathways in Basal/TNBC Patients by Integrated Analysis.
  5. A Bispecific DLL3/CD3 IgG-Like T-Cell Engaging Antibody Induces Antitumor Responses in Small Cell Lung Cancer.
    Title: A Bispecific DLL3/CD3 IgG-Like T-Cell Engaging Antibody Induces Antitumor Responses in Small Cell Lung Cancer.
  6. Diagnostic and Predictive Role of DLL3 Expression in Gastroenteropancreatic Neuroendocrine Neoplasms.
    Title: Diagnostic and Predictive Role of DLL3 Expression in Gastroenteropancreatic Neuroendocrine Neoplasms.
  7. DLL3 expression is a predictive marker of sensitivity to adjuvant chemotherapy for pulmonary LCNEC.
    Title: DLL3 expression is a predictive marker of sensitivity to adjuvant chemotherapy for pulmonary LCNEC.
  8. Delta-like canonical Notch ligand 3 as a potential therapeutic target in malignancies: A brief overview.
    Title: Delta-like canonical Notch ligand 3 as a potential therapeutic target in malignancies: A brief overview.
  9. DLL3 is expressed at high frequency (74%) in stage IV pulmonary large cell neuroendocrine carcinoma and is a potential therapy target.
    Title: DLL3 expression in large cell neuroendocrine carcinoma (LCNEC) and association with molecular subtypes and neuroendocrine profile.
  10. DLL3 expression is reliably quantifiable by pathologists and is highly expressed in the majority of SCLC and a subset of carcinoid tumors, making it an attractive target for anti-DLL3 treatment.
    Title: Expression of delta-like protein 3 is reproducibly present in a subset of small cell lung carcinomas and pulmonary carcinoid tumors.
Submit: New GeneRIF Correction See all GeneRIFs (31)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables Notch binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables Notch binding NAS
Non-traceable Author Statement
more info
 PubMed 
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in Notch signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in compartment pattern specification IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of Notch signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of neurogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in paraxial mesoderm development IEA
Inferred from Electronic Annotation
more info
  
involved_in skeletal system development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in somitogenesis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in membrane NAS
Non-traceable Author Statement
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
delta-like protein 3
Names
delta-like 3
delta3
drosophila Delta homolog 3

NCBI Reference Sequences (RefSeq)

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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.

Genomic

  1. NG_008256.1 RefSeqGene

    Range
    5031..14553
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_016941.4 → NP_058637.1  delta-like protein 3 isoform 1 precursor

    See identical proteins and their annotated locations for NP_058637.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC000218, DB035825
    Consensus CDS
    CCDS12538.1
    UniProtKB/Swiss-Prot
    E9PFG2, Q8NBS4, Q9NYJ7
    Related
    ENSP00000205143.3, ENST00000205143.4
    Conserved Domains (4) summary
    cd00054
    Location:279 → 310
    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 ...
    pfam00008
    Location:316 → 349
    EGF; EGF-like domain
    pfam07657
    Location:27 → 84
    MNNL; N terminus of Notch ligand
    cl19567
    Location:158 → 248
    DSL; Delta serrate ligand

  2. NM_203486.3 → NP_982353.1  delta-like protein 3 isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has a different splicing pattern at the 3' end compared to transcript variant 1. This results in an isoform (2) with a shorter C-terminus compared to isoform 1.
    Source sequence(s)
    AA865362, AK075302, BC000218, DB035825
    Consensus CDS
    CCDS12537.1
    UniProtKB/Swiss-Prot
    Q9NYJ7
    Related
    ENSP00000348810.4, ENST00000356433.10
    Conserved Domains (4) summary
    cd00054
    Location:279 → 310
    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 ...
    pfam00008
    Location:316 → 349
    EGF; EGF-like domain
    pfam07657
    Location:27 → 84
    MNNL; N terminus of Notch ligand
    cl19567
    Location:158 → 248
    DSL; Delta serrate ligand

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    39498947..39508469
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    42303204..42312726
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NYJ7.1 GenPept UniProtKB/Swiss-Prot:Q9NYJ7

Gene LinkOut

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