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

    Gene ID: 10683, updated on 10-Dec-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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    See DLL3 in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (39498947..39508469)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (42303204..42312726)
    RS_2024_09 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. Prevalence of Delta-like protein 3 expression in patients with small cell lung cancer. Tanaka K, et al. Lung Cancer, 2018 Jan. PMID 29290251
    2. A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3. Turnpenny PD, et al. Am J Hum Genet, 1999 Jul. PMID 10364530, Free PMC Article
    3. 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. Turnpenny PD, et al. J Med Genet, 2003 May. PMID 12746394, Free PMC Article
    4. A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village. Bonafé L, et al. Clin Genet, 2003 Jul. PMID 12791036
    5. Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations. Whittock NV, et al. Clin Genet, 2004 Jul. PMID 15200511

    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)

    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_2024_08

    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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