BMPR2 Chromosome 2
Bone morphogenetic protein receptor type 2
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What This Gene Does
This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of two different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Mutations in this gene have been associated with primary pulmonary hypertension, both familial and fenfluramine-associated, and with pulmonary venoocclusive disease. [provided by RefSeq, May 2020]
Gene Info
Gene Group
Type 2 receptor serine/threonine kinases
Locus Type
gene with protein product
Location
2q33.1-q33.2
Ensembl
ENSG00000204217
Associated Conditions (23)
Pulmonary hypertension
primary
dexfenfluramine-associated
Primary pulmonary hypertension
1
Inborn genetic diseases
Pulmonary venoocclusive disease 1
BMPR2-related disorder
Pulmonary arterial hypertension
Pulmonary arterial hypertension associated with another disease
Pulmonary arterial hypertension associated with HIV infection
Idiopathic and/or familial pulmonary arterial hypertension
Familial pulmonary capillary hemangiomatosis
Acute myeloid leukemia
Hepatocellular carcinoma
Drug- or toxin-induced pulmonary arterial hypertension
Tooth agenesis
selective
Gastric cancer
Pulmonary arterial hypertension associated with connective tissue disease
+3 more conditions
Key Variants
RS1085307354
Conflicting classifications of pathogenicity
Pulmonary hypertension, primary, dexfenfluramine-associated
Health Risk
RS1166280962
Conflicting classifications of pathogenicity
Primary pulmonary hypertension, Inborn genetic diseases, Pulmonary hypertension
Health Risk
RS1224397184
Conflicting classifications of pathogenicity
Primary pulmonary hypertension, Pulmonary hypertension, primary
Health Risk
RS1234205940
Conflicting classifications of pathogenicity
Pulmonary hypertension, primary, 1
Health Risk
RS139591065
Conflicting classifications of pathogenicity
Pulmonary hypertension, primary, 1
Health Risk
RS140659948
Conflicting classifications of pathogenicity
Primary pulmonary hypertension, Inborn genetic diseases, Primary pulmonary hypertension
Health Risk
RS141038240
Conflicting classifications of pathogenicity
Inborn genetic diseases, Primary pulmonary hypertension, Pulmonary hypertension
Health Risk
RS144389360
Conflicting classifications of pathogenicity
Primary pulmonary hypertension, BMPR2-related disorder, Inborn genetic diseases
Health Risk
RS146310981
Conflicting classifications of pathogenicity
Pulmonary hypertension, primary, 1
Health Risk
RS147943794
Conflicting classifications of pathogenicity
Pulmonary hypertension, primary, 1
Health Risk
RS149067277
Conflicting classifications of pathogenicity
Pulmonary arterial hypertension, Pulmonary arterial hypertension associated with another disease, Pulmonary arterial hypertension associated with HIV infection
Health Risk
RS150080314
Conflicting classifications of pathogenicity
Primary pulmonary hypertension, Inborn genetic diseases, Primary pulmonary hypertension
Health Risk
All Variants (466)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1085307331 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307332 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307333 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307334 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307335 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307336 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307337 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307339 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307340 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307342 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307343 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307344 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307345 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307346 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307347 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307348 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307349 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307350 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307351 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307352 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307353 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307355 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307356 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307357 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307358 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307359 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307360 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307361 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307363 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307365 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307366 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307369 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307370 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307371 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307372 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307373 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307374 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307375 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307376 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307377 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307378 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307379 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307380 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307381 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307382 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307383 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307384 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307385 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307386 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1085307387 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |