BMPR2 bone morphogenetic protein receptor type 2

Gene info



Previous symbol


External ID

HGNC: 1078
Entrez Gene: 659
Ensembl: ENSG00000204217
UCSC: uc002uzf.5
OMIM: 600799
UniProtKB: Q13873

Disease info



CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Patent ductus arteriosus
  • Partial anomalous pulmonary venous return
  • Atrioventricular septal defect
  • Transposition of the great arteries

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: Mouse with a homozygous single-base mutation presumably affecting splicing has CHD, mouse with a homozygous deletion of exon 2 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 BMPR2: BED file

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Selected References

  1. Mutlu, Z., Kayikcioglu, M., Nalbantgil, S., Vuran, O., Kemal, H., Mogulkoc, N., Erturk, B., Onay, H., Eroglu, Z., & Kulturuay, H. (2015). Sequencing of mutations in the serine/threonine kinase domain of the bone morphogenetic protein receptor type 2 gene causing pulmonary arterial hypertension. The Anatolian Journal of Cardiology. DOI:10.5152/AnatolJCardiol.2015.6297 PMID:26645265
  2. Roberts, K. E. (2004). BMPR2 mutations in pulmonary arterial hypertension with congenital heart disease. European Respiratory Journal, 24(3), 371–374. DOI:10.1183/09031936.04.00018604 PMID:15358693
  3. Pfarr, N., Fischer, C., Ehlken, N., Becker-Grünig, T., López-González, V., Gorenflo, M., Hager, A., Hinderhofer, K., Miera, O., Nagel, C., Schranz, D., & Grünig, E. (2013). Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension. Respiratory Research, 14(1). DOI:10.1186/1465-9921-14-3 PMID:23298310