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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
# SNPs330
 Max MagnitudeChromosome positionSummary
i5005629
i5005630
i5005631
i5005632
i5005634
i5005635
i5005638
i5005639
i5005640
rs10062465566.2202,556,253
rs10488290202,565,733
rs10605025766.2202,542,432
rs10605025816.2202,520,195
rs10605025830202,552,811
rs10611570202,556,476
rs10853071446.2202,376,528
rs10853071456.2202,377,483
rs10853071466.2202,377,490
rs10853071476.2202,377,495
rs10853071486.2202,377,495
rs10853071496.2202,377,501
rs10853071506.2202,377,502
rs10853071516.2202,377,512
rs10853071526.2202,377,513
rs10853071536.2202,377,521
rs10853071546.2202,377,522
rs10853071556.2202,377,551
rs10853071566.2202,377,552
rs10853071576.2202,377,555
rs1085307158202,464,774
rs10853071596.2202,464,808
rs10853071606.2202,464,814
rs10853071616.2
rs10853071626.2
rs10853071636.2202,464,832
rs10853071646.2202,464,835
rs10853071656.2202,464,848
rs10853071666.2202,464,856
rs10853071670202,464,857
rs10853071680202,464,872
rs10853071696.2202,464,888
rs10853071706.2202,464,900
rs10853071716.2202,464,910
rs10853071726.2202,464,911
rs1085307173202,464,921
rs1085307174202,464,921
rs10853071756.2202,464,928
rs10853071766.2202,464,929
rs10853071776.2202,464,932
rs10853071786.2202,464,932
... 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