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BMPR2

From SNPedia
is agene
is mentioned by
Full namebone morphogenetic protein receptor type 2
EntrezGene659
PheGenI659
VariationViewer659
ClinVarBMPR2
GeneCardsBMPR2
dbSNP659
DiseasesBMPR2
SADR659
HugeNav659
wikipediaBMPR2
googleBMPR2
gopubmedBMPR2
EVSBMPR2
HEFalMpBMPR2
MyGene2BMPR2
23andMeBMPR2
UniProtQ13873
EnsemblENSG00000204217
OMIM600799
# SNPs328
 Max MagnitudeChromosome positionSummary
i5005629
i5005630
i5005631
i5005632
i5005634
i5005635
i5005638
i5005639
i5005640
rs10062465560202,556,253
rs10605025760202,542,432
rs10605025810202,520,195
rs10605025830202,552,811
rs10611570202,556,476
rs10853071440202,376,528
rs10853071450202,377,483
rs10853071460202,377,490
rs10853071470202,377,495
rs10853071480202,377,495
rs10853071490202,377,501
rs10853071500202,377,502
rs10853071510202,377,512
rs10853071520202,377,513
rs10853071530202,377,521
rs10853071540202,377,522
rs10853071550202,377,551
rs10853071560202,377,552
rs10853071570202,377,555
rs1085307158202,464,774
rs10853071590202,464,808
rs10853071600202,464,814
rs10853071610202,464,820
rs10853071620202,464,823
rs10853071630202,464,832
rs10853071640202,464,835
rs10853071650202,464,848
rs10853071660202,464,856
rs10853071670202,464,857
rs10853071680202,464,872
rs10853071690202,464,888
rs10853071700202,464,900
rs10853071710202,464,910
rs10853071720202,464,911
rs1085307173202,464,921
rs1085307174202,464,921
rs10853071750202,464,928
rs10853071760202,464,929
rs10853071770202,464,932
rs10853071780202,464,932
rs10853071790202,464,933
... further results

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