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