Metazoan complexes |
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Emili & Marcotte labs |
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Details of BMPR2 gene in Homo sapiens
IDs | |||||||||
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Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| BMPR2 | PPH1 | Q13873 | BMPR2_HUMAN | 659 | ENSG00000204217 | Bone morphogenetic protein receptor type-2 | SPROT |
Disease | |||||||||
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Disease | OMIM id | ||||||||
Primary pulmonary hypertension (PPH1) [MIM:178600]: A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial PPH1 is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs. Note=The disease is caused by mutations affecting the gene represented in this entry. | 178600 | Pulmonary venoocclusive disease (PVOD) [MIM:265450]: Rare form of pulmonary hypertension in which the vascular changes originate in the small pulmonary veins and venules. The pathogenesis is unknown and any link with PPH1 has been speculative. The finding of PVOD associated with a BMPR2 mutation reveals a possible pathogenetic connection with PPH1. Note=The disease is caused by mutations affecting the gene represented in this entry. | 265450 |
Orthologs in other species | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Bmpr2 | FBgn0024179 | --- | Sp-Bmpr2... |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
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Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
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