| GENE NAME | BMPR2 |
| CHROMOSOME | 2 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000204217 |
| UNIPROT ACCESSION NUMBER | Q13873 |
| GO MOLECULAR FUNCTION | ['BMP receptor activity', 'signaling receptor activator activity', 'phosphatase activator activity', 'cadherin binding', 'protein binding', 'transforming growth factor beta-activated receptor activity', 'protein tyrosine kinase binding', 'protein serine/threonine kinase activity', 'protein serine/threonine kinase activator activity', 'activin receptor activity, type II', 'metal ion binding', 'BMP binding', 'ATP binding'] |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | hsa04060; hsa04350; hsa04360; hsa04390; hsa04550; hsa05206; hsa05418; R-HSA-162582; R-HSA-201451; R-HSA-9006936 |
| 4 combinations linked to BMPR2 | OLI1728; OLI002; OLI003; OLI238 |
| 4 variants linked to BMPR2 | Copy Number Variant duplication on chromosome 2 of the exon2 in the gene BMPR2; BMPR2:c.77-5_77-2delTTTA, ; BMPR2:c.1471C>T, p.Arg491Trp; BMPR2:c.1042G>A, p.Val348Ile |
| 4 diseases linked to BMPR2 | Pulmonary arterial hypertension; Heritable pulmonary arterial hypertension; Primary ovarian failure; Idiopathic pulmonary arterial hypertension |