NOTCH2 (Q04721) variants and mutations

NOTCH2 (also known as Q04721) is a human protein-coding gene encoding a neurogenic locus notch homolog protein 2 protein. It directs cell-fate decisions in developing and adult tissues through ligand-triggered transcriptional signaling. Pathogenic variants cause Alagille syndrome type 2 or Hajdu-Cheney syndrome depending on the molecular mechanism, and somatic alterations occur in several malignancies. This analysis covers 5,267 NOTCH2 variants and mutations. Of these, 54% have computational variant effect predictions. Disease context includes acroosteolysis dominant type, Alagille syndrome due to a NOTCH2 point mutation, and Alagille syndrome. Example NOTCH2 variants include M1I, P2L, and P2R.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable NOTCH2 variants

Examples include M1I, P2L, P2R, P2S, A3P, A3S, A3T, A3V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.