BMPR2 bone morphogenetic protein receptor type 2

Gene info

Synonyms

BRK-3, T-ALK, BMPR3, BMPR-II

Previous symbol

PPH1

External ID

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

Disease info

Disease

None

CHD Phenotype

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

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

mouse with a homozygous single-base mutation presumably affecting splicing has CHD, mouse with a homozygous deletion of exon 2 has CHD

MGI ID

Variant info

Clinvar

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., … 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., … Grünig, E. (2013). Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension. Respiratory Research, 14(1), 3. DOI:10.1186/1465-9921-14-3 PMID:23298310