DLL4

Chr 15q15.1

delta like canonical Notch ligand 4

MANE:: ENST00000249749.7

OMIM: 605185 ↗NCBI: 54567 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

DLL4 · Q9NR61

v62025-08-01

Predicted Aligned Error matrix for DLL4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

74.9/ 100

Confident

685 residues

Confidence breakdown

Very high(≥ 90)35%
Confident(70–90)34%
Low(50–70)11%
Very low(< 50)20%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

Adams-Oliver syndrome
0.80
cancer
0.57
aplasia cutis congenita
0.37
neurodegenerative disease
0.37
intelligence
0.37
hereditary disease
0.34
neoplasm
0.12
gastric cancer
0.11
hepatocellular carcinoma
0.10
non-small cell lung carcinoma
0.10

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Delta-like protein 4

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)