AlphaFold predicted structure
NOTCH2 · Q04721
Mean pLDDT
59.4/ 100
Low
2,471 residues
Confidence breakdown
- Very high(≥ 90)5%
- Confident(70–90)31%
- Low(50–70)38%
- Very low(< 50)27%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
NOTCH2
Chr 1p12notch receptor 2
- MANE:
- ENST00000256646.7
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
CAKUT
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedCholestasis
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFamilial non syndromic congenital heart disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownNeonatal cholestasis
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOsteogenesis imperfecta
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedSkeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
+6 more panels — install the extension to see the full list inline on any page.
Disease associations (Open Targets)
acroosteolysis dominant type
0.83Alagille syndrome due to a NOTCH2 point mutation
0.76Alagille syndrome
0.70diffuse large B-cell lymphoma
0.55diabetes mellitus
0.46cutaneous squamous cell carcinoma
0.42keratoacanthoma
0.42prostate adenocarcinoma
0.41type 2 diabetes mellitus
0.41lung carcinoma
0.39
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Neurogenic locus notch homolog protein 2
Functions as a receptor for membrane-bound ligands Jagged-1 (JAG1), Jagged-2 (JAG2) and Delta-1 (DLL1) to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus (PubMed:21378985, PubMed:21378989). Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity). Involved in bone remodeling and homeostasis. In collaboration with RELA/p65 enhances NFATc1 promoter activity and positively regulates RANKL-induced osteoclast differentiation (PubMed:29149593). Positively regulates self-renewal of liver cancer cells (PubMed:25985737)
Diseases associated with NOTCH2
Curated MONDO disease pages that list NOTCH2 among their top associated genes.