BMPR2
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | bone morphogenetic protein receptor type 2 |
| EntrezGene | 659 |
| PheGenI | 659 |
| VariationViewer | 659 |
| ClinVar | BMPR2 |
| GeneCards | BMPR2 |
| dbSNP | 659 |
| Diseases | BMPR2 |
| SADR | 659 |
| HugeNav | 659 |
| wikipedia | BMPR2 |
| BMPR2 | |
| gopubmed | BMPR2 |
| EVS | BMPR2 |
| HEFalMp | BMPR2 |
| MyGene2 | BMPR2 |
| 23andMe | BMPR2 |
| UniProt | Q13873 |
| Ensembl | ENSG00000204217 |
| OMIM | 600799 |
| # SNPs | 330 |
The BMPR2 gene on chromosome 2 encodes the bone morphogenetic protein receptor type 2.
Several hundred different mutations in the BMPR2 gene, generally inherited in a dominant manner, have been reported to cause several disorders including:
- Pulmonary hypertension, familial primary, 1, with or without hereditary hemorrhagic telangiectasia
- Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated
- Pulmonary venoocclusive disease 1
- Pulmonary arterial hypertension
Pulmonary hypertension develops in roughly 40 percent of the women and 14 percent of the men who inherit a pathogenic BMPR2 variant.blog post
