SMAD2 SMAD family member 2

Gene info


MADR2, JV18-1

Previous symbol


External ID

HGNC: 6768
Entrez Gene: 4087
Ensembl: ENSG00000175387
UCSC: uc002lcy.5
OMIM: 601366
UniProtKB: Q15796

Disease info

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Patent ductus arteriosus
  • Bicuspid aortic valve
  • Atrioventricular septal defect
  • Pulmonic stenosis
  • Double outlet right ventricle
  • Transposition of the great arteries
  • Dextrocardia
  • Partial anomalous pulmonary venous return

Extra Cardiac Phenotype

Neurodevelopmental delay, Seizures, Failure to thrive, GI abnormalities, Scoliosis, digit and limb anomalies, Connective tissue abnormalities

Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: Homozygous mutant mice have 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 SMAD2: BED file

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Selected References

  1. Granadillo, J. L., Chung, W. K., Hecht, L., Corsten-Janssen, N., Wegner, D., Nij Bijvank, S. W. A., Toler, T. L., Pineda-Alvarez, D. E., Douglas, G., Murphy, J. J., Shimony, J., & Shinawi, M. (2018). Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants. Human Mutation, 39(12), 1875–1884. Portico. DOI:10.1002/humu.23627 PMID:30157302
  2. Zaidi, S., Choi, M., Wakimoto, H., Ma, L., Jiang, J., Overton, J. D., Romano-Adesman, A., Bjornson, R. D., Breitbart, R. E., Brown, K. K., Carriero, N. J., Cheung, Y. H., Deanfield, J., DePalma, S., Fakhro, K. A., Glessner, J., Hakonarson, H., Italia, M. J., Kaltman, J. R., … Lifton, R. P. (2013). De novo mutations in histone-modifying genes in congenital heart disease. Nature, 498(7453), 220–223. DOI:10.1038/nature12141 PMID:23665959