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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
# SNPs313
 Max MagnitudeChromosome positionSummary
rs1060502576
rs1060502581
rs1060502583
rs10611570202,556,476
rs1085307144
rs1085307145
rs1085307146
rs1085307147
rs1085307148
rs1085307149
rs1085307150
rs1085307151
rs1085307152
rs1085307153
rs1085307154
rs1085307155
rs1085307156
rs1085307157
rs1085307159
rs1085307160
rs1085307161
rs1085307162
rs1085307163
rs1085307164
rs1085307165
rs1085307166
rs1085307167
rs1085307168
rs1085307169
rs1085307170
rs1085307171
rs1085307172
rs1085307175
rs1085307176
rs1085307177
rs1085307178
rs1085307179
rs1085307180
rs1085307181
rs1085307182
rs1085307183
rs1085307184
rs1085307185
rs1085307186
rs1085307187
rs1085307188
rs1085307189
rs1085307190
rs1085307191
rs1085307192
... further results

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