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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
SADR659
HugeNav659
wikipediaBMPR2
googleBMPR2
gopubmedBMPR2
EVSBMPR2
HEFalMpBMPR2
MyGene2BMPR2
23andMeBMPR2
UniProtQ13873
EnsemblENSG00000204217
OMIM600799
# SNPs35
 Max MagnitudeChromosome positionSummary
rs10611570202,556,476
rs12468226202,472,278
rs13426118202,390,762
rs1378527410202,556,360
rs1378527420202,464,950
rs1378527430202,467,625
rs1378527440202,530,866
rs1378527450202,552,756
rs1378527460202,552,773
rs1378527470202,513,807
rs1378527480202,556,282
rs1378527490202,552,774
rs1378527500202,467,638
rs1378527510202,530,820
rs1378527520202,556,361
rs1378527530202,518,831
rs1378527540202,514,903
rs1378527550202,464,852
rs1378527564202,542,331
rs3746945910202,518,997
rs3975144960202,514,962
rs3975144970202,514,941
rs4833529020202,377,518
rs6717924202,381,581
rs8632234190202,519,046
rs8632234200202,530,955
rs8632234210202,552,761
rs863223422202,552,728
rs863223423202,464,918
rs8632234240202,520,085
rs8632234250202,467,566
rs8632234260202,467,648
rs8690253660202,513,739
rs8690253670202,532,732
rs8788542720202,530,951

The BMPR2 gene on chromosome 2 encodes the bone morphogenetic protein receptor type 2.

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