BMPR2
entrez
659
canonical
uniprot
Q13873
canonical
ensembl
ENSG00000204217
resolver
ensp
ENSP00000363708
resolver
ensp
ENSP00000786880
resolver
genesymbol
BMPR2
resolver
genesymbol_syn
PPH1
resolver
hgnc
HGNC:1078
resolver
uniprot
Q13161
resolver
uniprot
Q16569
resolver
uniprot
Q4ZG08
resolver
uniprot
Q53SA5
resolver
uniprot
Q585T8
resolver
uniprot_entry
BMPR2_HUMAN
resolver
uniprot_sec
Q13161
resolver
uniprot_sec
Q16569
resolver
uniprot_sec
Q4ZG08
resolver
uniprot_sec
Q53SA5
resolver
uniprot_sec
Q585T8
resolver
amino_acid_sequence
MTSSLQRPWRVPWLPWTILLVSTAAASQNQERLCAFKDPYQQDLGIGESRISHENGTILCSKGSTCYGLWEKSKGDINLVKQGCWSHIGDPQECHYEECVVTTTPPSIQNGTYRFCCCSTDLCNVNFTENFPPPDTTPLSPPHSFNRDETIIIALASVSVLAVLIVALCFGYRMLTGDRKQGLHSMNMMEAAASEPSLDLDNLKLLELIGRGRYGAVYKGSLDERPVAVKVFSFANRQNFINEKNIYRVPLMEHDNIARFIVGDERVTADGRMEYLLVMEYYPNGSLCKYLSLHTSDWVSSCRLAHSVTRGLAYLHTELPRGDHYKPAISHRDLNSRNVLVKNDGTCVISDFGLSMRLTGNRLVRPGEEDNAAISEVGTIRYMAPEVLEGAVNLRDCESALKQVDMYALGLIYWEIFMRCTDLFPGESVPEYQMAFQTEVGNHPTFEDMQVLVSREKQRPKFPEAWKENSLAVRSLKETIEDCWDQDAEARLTAQCAEERMAELMMIWERNKSVSPTVNPMSTAMQNERNLSHNRRVPKIGPYPDYSSSSYIEDSIHHTDSIVKNISSEHSMSSTPLTIGEKNRNSINYERQQAQARIPSPETSVTSLSTNTTTTNTTGLTPSTGMTTISEMPYPDETNLHTTNVAQSIGPTPVCLQLTEEDLETNKLDPKEVDKNLKESSDENLMEHSLKQFSGPDPLSSTSSSLLYPLIKLAVEATGQQDFTQTANGQACLIPDVLPTQIYPLPKQQNLPKRPTSLPLNTKNSTKEPRLKFGSKHKSNLKQVETGVAKMNTINAAEPHVVTVTMNGVAGRNHSVNSHAATTQYANGTVLSGQTTNIVTHRAQEMLQNQFIGEDTRLNINSSPDEHEPLLRREQQAGHDEGVLDRLVDRRERPLEGGRTNSNNNNSNPCSEQDVLAQGVPSTAADPGPSKPRRAQRPNSLDLSATNVLDGSSIQIGESTQDGKSGSGEKIKKRVKTPYSLKRWRPSTWVISTESLDCEVNNNGSNRAVHSKSSTAVYLAEGGTATTMVSKDIGMNCL
uniprot
proteins
disease_involvement
DISEASE: 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. {ECO:0000269|PubMed:10903931, ECO:0000269|PubMed:10973254, ECO:0000269|PubMed:11015450, ECO:0000269|PubMed:11115378, ECO:0000269|PubMed:12045205, ECO:0000269|PubMed:12358323, ECO:0000269|PubMed:15965979, ECO:0000269|PubMed:24936649, ECO:0000269|PubMed:25187962, ECO:0000269|PubMed:28507310}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Pulmonary venoocclusive disease 1, autosomal dominant (PVOD1) [MIM:265450]: A disease characterized by widespread fibrous obstruction and intimal thickening of septal veins and preseptal venules, a low diffusing capacity for carbon monoxide, occult alveolar hemorrhage, and nodular ground-glass opacities, septal lines and lymph node enlargement showed by high-resolution computed tomography of the chest. It is frequently associated with pulmonary capillary dilatation and proliferation, and is a rare and devastating cause of pulmonary hypertension. {ECO:0000269|PubMed:12446270, ECO:0000269|PubMed:16429395}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.11.30
uniprot
proteins
function
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. Can also mediate signaling through the activation of the p38MAPK cascade (PubMed:12045205). Binds to BMP7, BMP2 and, less efficiently, BMP4. Binding is weak but enhanced by the presence of type I receptors for BMPs. Mediates induction of adipogenesis by GDF6. Promotes signaling also by binding to activin A/INHBA (PubMed:24018044). {ECO:0000250|UniProtKB:O35607, ECO:0000269|PubMed:12045205, ECO:0000269|PubMed:24018044}.
uniprot
proteins
mass_dalton
115201
uniprot
proteins
protein_family
Protein kinase superfamily
uniprot
proteins
protein_family
TGFB receptor subfamily
uniprot
proteins
protein_family
TKL Ser/Thr protein kinase family
uniprot
proteins
pubmed
10903931
uniprot
proteins
pubmed
10973254
uniprot
proteins
pubmed
11015450
uniprot
proteins
pubmed
11115378
uniprot
proteins
pubmed
12045205
uniprot
proteins
pubmed
12358323
uniprot
proteins
pubmed
12446270
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
15965979
uniprot
proteins
pubmed
16429395
uniprot
proteins
pubmed
17094948
uniprot
proteins
pubmed
17344846
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
21791611
uniprot
proteins
pubmed
21976273
uniprot
proteins
pubmed
24018044
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24936649
uniprot
proteins
pubmed
25187962
uniprot
proteins
pubmed
28507310
uniprot
proteins
pubmed
29212066
uniprot
proteins
pubmed
33308444
uniprot
proteins
pubmed
7644468
uniprot
proteins
pubmed
7673243
uniprot
proteins
pubmed
7791754
uniprot
proteins
pubmed
7890683
uniprot
proteins
sequence_length
1038
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:25187962}; Single-pass type I membrane protein.
uniprot
proteins
transmembrane_region
TRANSMEM 151..171; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins