NOTCH2 notch receptor 2

Gene info



Previous symbol


External ID

HGNC: 7882
Entrez Gene: 4853
Ensembl: ENSG00000134250
UCSC: uc001eik.4
OMIM: 600275
UniProtKB: Q04721

Disease info


CHD Phenotype

  • Atrial septal defect
  • Patent ductus arteriosus
  • Pulmonic stenosis
  • Tetralogy of fallot

Extra Cardiac Phenotype

Cholestasis, bile duct paucity, Vesico-ureteric reflux, Renal failure, Posterior embryotoxon, Butterfly vertebrae

Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: Mouse homozygous for a hypomorphic allele has CHD


Variant info


Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for NOTCH2: BED file

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Selected References

  1. McDaniell, R., Warthen, D. M., Sanchez-Lara, P. A., Pai, A., Krantz, I. D., Piccoli, D. A., & Spinner, N. B. (2006). NOTCH2 Mutations Cause Alagille Syndrome, a Heterogeneous Disorder of the Notch Signaling Pathway. The American Journal of Human Genetics, 79(1), 169–173. DOI:10.1086/505332 PMID:16773578
  2. Gray, M. J., Kim, C. A., Bertola, D. R., Arantes, P. R., Stewart, H., Simpson, M. A., Irving, M. D., & Robertson, S. P. (2011). Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu–Cheney syndrome. European Journal of Human Genetics, 20(1), 122–124. DOI:10.1038/ejhg.2011.125 PMID:21712856
  3. Kamath, B. M., Bauer, R. C., Loomes, K. M., Chao, G., Gerfen, J., Hutchinson, A., Hardikar, W., Hirschfield, G., Jara, P., Krantz, I. D., Lapunzina, P., Leonard, L., Ling, S., Ng, V. L., Hoang, P. L., Piccoli, D. A., & Spinner, N. B. (2011). NOTCH2mutations in Alagille syndrome. Journal of Medical Genetics, 49(2), 138–144. DOI:10.1136/jmedgenet-2011-100544 PMID:22209762