DLL3

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DLL3
Identifiers
Aliases DLL3, SCDO1, pu, pudgy, delta like canonical Notch ligand 3
External IDs MGI: 1096877 HomoloGene: 7291 GeneCards: DLL3
RNA expression pattern
PBB GE DLL3 219537 x at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_016941
NM_203486

NM_007866

RefSeq (protein)

NP_058637
NP_982353

NP_031892.2
NP_031892

Location (UCSC) Chr 19: 39.5 – 39.51 Mb Chr 7: 28.29 – 28.3 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Delta-like 3 (Drosophila), also known as DLL3, is a protein which in humans is encoded by the DLL3 gene.[3] Two transcript variants encoding distinct isoforms have been identified for this gene.

Function[edit]

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.[4] Expression of DLL3 is highest in fetal brain. It plays a key role in somitogenesis within the Paraxial mesoderm. [5]

Clinical significance[edit]

Mutations in this gene cause the autosomal recessive genetic disorder Jarcho-Levin syndrome.[6] Expression of the gene occurs in Neuroendocrine tumors, which has been targeted as a potential pathway for treatment.[7]

An experimental drug, rovalpituzumab tesirine, targets DLL3 as a possible treatment for lung cancer.[8]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ Turnpenny PD, Bulman MP, Frayling TM, Abu-Nasra TK, Garrett C, Hattersley AT, Ellard S (July 1999). "A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3". Am. J. Hum. Genet. 65 (1): 175–82. doi:10.1086/302464. PMC 1378088Freely accessible. PMID 10364530. 
  4. ^ "Entrez Gene: DLL3 delta-like 3 (Drosophila)". 
  5. ^ Chapman G, Sparrow DB, Kremmer E, Dunwoodie SL (March 2011). "Notch inhibition by the ligand Delta-Like 3 defines the mechanism of abnormal vertebral segmentation in spondylocostal dysostosis". Human Molecular Genetics. 20 (5): 438–41. doi:10.1093/hmg/ddq529. PMID 21147753. 
  6. ^ Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Lander ES, Krumlauf R, Hattersley AT, Ellard S, Turnpenny PD (April 2000). "Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis". Nat. Genet. 24 (4): 438–41. doi:10.1038/74307. PMID 10742114. 
  7. ^ Saunders LR, Bankovich AJ, Anderson WC, Aujay MA, Bheddah S, Black K, Desai R, Escarpe PA, Hampl J, Laysang A, Liu D, Lopez-Molina J, Milton M, Park A, Pysz MA, Shao H, Slingerland B, Torgov M, Williams SA, Foord O, Howard P, Jassem J, Badzio A, Czapiewski P, Harpole DH, Dowlati A, Massion PP, Travis WD, Pietanza MC, Poirier JT, Rudin CM, Stull RA, Dylla SJ (August 2015). "A DLL3-targeted antibody-drug conjugate eradicates high-grade pulmonary neuroendocrine tumor-initiating cells in vivo". Sci Transl Med. 7 (302): 302. doi:10.1126/scitranslmed.aac9459. PMID 26311731. 
  8. ^ http://adisinsight.springer.com/drugs/800038447

External links[edit]

Further reading[edit]