BMPR2_HUMAN
Source:
PM19886704
PM23856902
Marked as 'Integral membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
BMPR2
, PPH1
Protein names and data:
BMPR2_HUMAN
, Bone morphogenetic protein receptor type-2; BMP type-2 receptor; BMPR-2; 2.7.11.30
, Bone morphogenetic protein receptor type II; BMP type II receptor; BMPR-II; Flags: Precursor
Lenght: 1038 a.a.
Mass: 115201 Da
fasta formatted sequence
Function:
On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Binds to BMP-7, BMP-2 and, less efficiently, BMP-4. Binding is weak but enhanced by the presence of type I receptors for BMPs.
Catalytic activity:
ATP + [receptor-protein] = ADP + [receptor- protein] phosphate.
Disease:
( OMIM:
178600
265450
600799
)
Pulmonary hypertension, primary, 1 (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 pulmonary hypertension 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. 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.
Cellular location:
Membrane; Single-pass type I membrane protein.
Tissue specificity:
Highly expressed in heart and liver.
Genetic variants
60 - 60
C -> Y (in PPH1). VAR_013670
82 - 82
Q -> H (in PPH1). VAR_033109
117 - 117
C -> Y (in PPH1). VAR_013671
118 - 118
C -> W (in PPH1). VAR_013672
123 - 123
C -> R (in PPH1). VAR_013673
123 - 123
C -> S (in PPH1). VAR_013674
182 - 182
G -> D (in PPH1). VAR_033110
224 - 224
E -> D. VAR_013675
347 - 347
C -> Y (in PPH1). VAR_013676
420 - 420
C -> R (in PPH1). VAR_013677
483 - 483
C -> R (in PPH1; sporadic). VAR_013678
485 - 485
D -> G (in PPH1; complete loss of function). VAR_013679
491 - 491
R -> Q (in PPH1; sporadic). VAR_013680
491 - 491
R -> W (in PPH1). VAR_013681
512 - 512
K -> T (in PPH1). VAR_013682
519 - 519
N -> K (in PPH1). VAR_013683
775 - 775
S -> N (in dbSNP:rs2228545). VAR_019996
2228545
899 - 899
R -> P (in PPH1; leads to constitutive activation of the MAPK14 pathway; dbSNP:rs137852752). VAR_033111
137852752
Database cross-references
UniProt:
Q13873
Ensembl:
ENST00000374580
MIM:
178600
MIM:
265450
MIM:
600799
neXtProt:
NX_Q13873
Antibodypedia:
Q13873
(may not find the protein thus also not any antibody)
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