DLL4

This gene is a homolog of the Drosophila delta gene. The delta gene family encodes Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. [provided by RefSeq, Jul 2008]

Full Name

Delta Like Canonical Notch Ligand 4

Function

Involved in the Notch signaling pathway as Notch ligand (PubMed:11134954).

Activates NOTCH1 and NOTCH4. Involved in angiogenesis; negatively regulates endothelial cell proliferation and migration and angiogenic sprouting (PubMed:20616313).

Essential for retinal progenitor proliferation. Required for suppressing rod fates in late retinal progenitors as well as for proper generation of other retinal cell types (By similarity).

During spinal cord neurogenesis, inhibits V2a interneuron fate (PubMed:17728344).

Biological Process

Angiogenesis Source: BHF-UCL
Aortic valve morphogenesis Source: BHF-UCL
Blood circulation Source: ProtInc
Blood vessel lumenization Source: Ensembl
Blood vessel remodeling Source: BHF-UCL
Branching involved in blood vessel morphogenesis Source: BHF-UCL
Cardiac atrium morphogenesis Source: BHF-UCL
Cardiac ventricle morphogenesis Source: BHF-UCL
Cellular response to fibroblast growth factor stimulus Source: UniProtKB
Cellular response to vascular endothelial growth factor stimulus Source: UniProtKB
Dorsal aorta morphogenesis Source: BHF-UCL
Negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis Source: UniProtKB
Negative regulation of cell migration involved in sprouting angiogenesis Source: UniProtKB
Negative regulation of cell population proliferation Source: UniProtKB
Negative regulation of endothelial cell migration Source: UniProtKB
Negative regulation of gene expression Source: UniProtKB
Negative regulation of Notch signaling pathway Source: UniProtKB
Negative regulation of transcription by RNA polymerase II Source: BHF-UCL
Notch signaling involved in heart development Source: BHF-UCL
Notch signaling pathway Source: GO_Central
Pericardium morphogenesis Source: BHF-UCL
Positive regulation of gene expression Source: UniProtKB
Positive regulation of neural precursor cell proliferation Source: UniProtKB
Positive regulation of Notch signaling pathway Source: UniProtKB
Regulation of neural retina development Source: UniProtKB
Regulation of neurogenesis Source: Ensembl
Signal transduction Source: ProtInc
T cell differentiation Source: UniProtKB
Ventral spinal cord interneuron fate commitment Source: UniProtKB
Ventricular trabecula myocardium morphogenesis Source: BHF-UCL
Visual perception Source: UniProtKB-KW

Cellular Location

Cell membrane

Involvement in disease

Adams-Oliver syndrome 6 (AOS6):
A form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins.

Topology

Extracellular: 27-529
Helical: 530-550
Cytoplasmic: 551-685