DLL3

Delta-like 3 (Drosophila), also known as DLL3, is a protein which in humans is encoded by the DLL3 gene.^[5] Two transcript variants encoding distinct isoforms have been identified for this gene.

DLL3
Identifiers
Aliases	DLL3, SCDO1, pu, pudgy, delta like canonical Notch ligand 3
External IDs	OMIM: 602768; MGI: 1096877; HomoloGene: 7291; GeneCards: DLL3; OMA:DLL3 - orthologs
Gene location (Human) Chr. Chromosome 19 (human)[1] Band 19q13.2 Start 39,498,895 bp[1] End 39,508,481 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7 A3|7 16.67 cM Start 27,992,978 bp[2] End 28,001,663 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence gonad testicle ventricular zone nucleus accumbens Amygdala anterior cingulate cortex prefrontal cortex Hypothalamus putamen Top expressed in medial ganglionic eminence seminiferous tubule tail of embryo primitive streak embryo embryo epiblast spermatid morula pars intermedia More reference expression data BioGPS More reference expression data
Gene ontology Molecular function Notch binding calcium ion binding Cellular component integral component of membrane membrane plasma membrane Biological process Notch signaling pathway somitogenesis multicellular organism development negative regulation of neurogenesis cell differentiation compartment pattern specification paraxial mesoderm development tissue development skeletal system development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10683 13389 Ensembl ENSG00000090932 ENSMUSG00000003436 UniProt Q9NYJ7 O88516 RefSeq (mRNA) NM_016941 NM_203486 NM_007866 RefSeq (protein) NP_058637 NP_982353 NP_031892 Location (UCSC) Chr 19: 39.5 – 39.51 Mb Chr 7: 27.99 – 28 Mb PubMed search [3] [4]
Wikidata
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Function

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.^[6] Expression of DLL3 is highest in fetal brain. It plays a key role in somitogenesis within the paraxial mesoderm.^[7]

Clinical significance

Mutations in this gene cause the autosomal recessive genetic disorder Jarcho-Levin syndrome.^[8] Expression of the gene occurs in Neuroendocrine tumors, which has been targeted as a potential pathway for treatment.^[9]

Experimental drugs targetting DLL3 have been investigated as a possible treatment for lung cancer including Tarlatamab and rovalpituzumab tesirine.^[10]