DLL3
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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
delta like canonical Notch ligand 3 | MIM:602768 | Ensembl:ENSG00000090932 | HGNC:HGNC:2909 | PA27365 | 19q13.2 |
GO terms in DLL3
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
MF | NAS | GO:0005112 | Notch binding |
MF | IEA | GO:0005509 | calcium ion binding |
BP | IMP | GO:0001501 | skeletal system development |
BP | IEA | GO:0001756 | somitogenesis |
BP | IEA | GO:0007219 | Notch signaling pathway |
BP | IEA | GO:0007386 | compartment pattern specification |
BP | IEA | GO:0048339 | paraxial mesoderm development |
BP | IEA | GO:0050768 | negative regulation of neurogenesis |
CC | NAS | GO:0016021 | integral component of membrane |
Gene expression in normal tissue: DLL3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in DLL3
Database | Pathway ID | Pathway Des. |
---|---|---|
wikipathways | WP2064 | Neural Crest Differentiation |
wikipathways | WP268 | Notch Signaling Pathway |
wikipathways | WP3413 | NOTCH1 regulation of human endothelial cell calcification |
wikipathways | WP3845 | Canonical and Non-canonical Notch signaling |
wikipathways | WP4239 | EMT transition in Colorectal Cancer |
wikipathways | WP4242 | Notch Signaling Pathway |
wikipathways | WP61 | Notch Signaling Pathway |
kegg | hsa04330 | Notch signaling pathway - Homo sapiens (human) |
kegg | hsa04658 | Th1 and Th2 cell differentiation - Homo sapiens (human) |
kegg | hsa05200 | Pathways in cancer - Homo sapiens (human) |
kegg | hsa05224 | Breast cancer - Homo sapiens (human) |
pid | notch_pathway | Notch signaling pathway |
netpath | Pathway_Notch | Notch |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in DLL3