Pulmonary Arterial Hypertension KnowledgeBase (PAHKB)
PAHKB
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

659

Name

BMPR2

Synonym

BMPR-II|BMPR3|BMR2|BRK-3|PPH1|T-ALK;bone morphogenetic protein receptor, type II (serine/threonine kinase);BMPR2;bone morphogenetic protein receptor, type II (serine/threonine kinase)

Definition

BMP type II receptor|BMP type-2 receptor|BMPR-2|bone morphogenetic protein receptor type II|bone morphogenetic protein receptor type-2|type II activin receptor-like kinase|type II receptor for bone morphogenetic protein-4

Position

2q33-q34

Gene Type

protein-coding

PAH Type

Description

HPH

Increased susceptibility to hypoxic pulmonary hypertension in Bmpr2 mutant mice is associated with endothelial dysfunction in the pulmonary vasculature.

PAH

"Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family."

PAH

BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension.

PAH

BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives.

PAH

Pulmonary hypertension in scleroderma spectrum of disease: lack of bone morphogenetic protein receptor 2 mutations.

PAH

Pulmonary hypertension in transgenic mice expressing a dominant-negative BMPRII gene in smooth muscle.

PAH

Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertension.

PAH

Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood.

PAH

Investigation of second genetic hits at the BMPR2 locus as a modulator of disease progression in familial pulmonary arterial hypertension.

PAH

A dual-light reporter system to determine the efficiency of protein-protein interactions in mammalian cells.
More detail of all Mouse literatures about BMPR2

Pathways and Diseases

Pathway

BMP receptor signaling;PID Curated;200123

Pathway

Cytokine-cytokine receptor interaction;KEGG PATHWAY;hsa04060

Pathway

Signaling by BMP;Reactome;REACT:12034

Pathway

ALK1 signaling events;PID Curated;200126

Pathway

TGF-beta signaling pathway;PANTHER;P00052

Pathway

ALK2 signaling events;PID Curated;200138

Pathway

TGF-beta signaling pathway;KEGG PATHWAY;hsa04350

Pathway

alk in cardiac myocytes;PID BioCarta;100244

Disease

Renal Cell cancer;FunDO

Disease

Hypertension;FunDO

Disease

hypertension;GAD

Disease

CARDIOVASCULAR;GAD

Disease

Prostate cancer;FunDO

Disease

Pulmonary venoocclusive disease;OMIM

Disease

Asthma;FunDO

Disease

Lung cancer;FunDO

Disease

Pulmonary hypertension, familial primary;OMIM

Disease

Congenital heart disease;FunDO

Disease

Pulmonary hypertension;FunDO

Disease

Rabies;FunDO

Disease

Pulmonary hypertension, primary, fenfluramine-associated;OMIM

Disease

Breast cancer;FunDO

Disease

Capillaries disease;FunDO

Disease

Vascular disease;FunDO

Disease

Hypertension, Pulmonary;FunDO

External Links

Links to Entrez Gene

659

Links to all GeneRIF Items

659

Links to iHOP

659

Sequence Information

Nucleotide Sequence

>659 : length: 3117
atgacttcctcgctgcagcggccctggcgggtgccctggctaccatggaccatcctgctg
gtcagcactgcggctgcttcgcagaatcaagaacggctatgtgcgtttaaagatccgtat
cagcaagaccttgggataggtgagagtagaatctctcatgaaaatgggacaatattatgc
tcgaaaggtagcacctgctatggcctttgggagaaatcaaaaggggacataaatcttgta
aaacaaggatgttggtctcacattggagatccccaagagtgtcactatgaagaatgtgta
gtaactaccactcctccctcaattcagaatggaacataccgtttctgctgttgtagcaca
gatttatgtaatgtcaactttactgagaattttccacctcctgacacaacaccactcagt
ccacctcattcatttaaccgagatgagacaataatcattgctttggcatcagtctctgta
ttagctgttttgatagttgccttatgctttggatacagaatgttgacaggagaccgtaaa
caaggtcttcacagtatgaacatgatggaggcagcagcatccgaaccctctcttgatcta
gataatctgaaactgttggagctgattggccgaggtcgatatggagcagtatataaaggc
tccttggatgagcgtccagttgctgtaaaagtgttttcctttgcaaaccgtcagaatttt
atcaacgaaaagaacatttacagagtgcctttgatggaacatgacaacattgcccgcttt
atagttggagatgagagagtcactgcagatggacgcatggaatatttgcttgtgatggag
tactatcccaatggatctttatgcaagtatttaagtctccacacaagtgactgggtaagc
tcttgccgtcttgctcattctgttactagaggactggcttatcttcacacagaattacca
cgaggagatcattataaacctgcaatttcccatcgagatttaaacagcagaaatgtccta
gtgaaaaatgatggaacctgtgttattagtgactttggactgtccatgaggctgactgga
aatagactggtgcgcccaggggaggaagataatgcagccataagcgaggttggcactatc
agatatatggcaccagaagtgctagaaggagctgtgaacttgagggactgtgaatcagct
ttgaaacaagtagacatgtatgctcttggactaatctattgggagatatttatgagatgt
acagacctcttcccaggggaatccgtaccagagtaccagatggcttttcagacagaggtt
ggaaaccatcccacttttgaggatatgcaggttctcgtgtctagggaaaaacagagaccc
aagttcccagaagcctggaaagaaaatagcctggcagtgaggtcactcaaggagacaatc
gaagactgttgggaccaggatgcagaggctcggcttactgcacagtgtgctgaggaaagg
atggctgaacttatgatgatttgggaaagaaacaaatctgtgagcccaacagtcaatcca
atgtctactgctatgcagaatgaacgcaacctgtcacataataggcgtgtgccaaaaatt
ggtccttatccagattattcttcctcctcatacattgaagactctatccatcatactgac
agcatcgtgaagaatatttcctctgagcattctatgtccagcacacctttgactataggg
gaaaaaaaccgaaattcaattaactatgaacgacagcaagcacaagctcgaatccccagc
cctgaaacaagtgtcaccagcctctccaccaacacaacaaccacaaacaccacaggactc
acgccaagtactggcatgactactatatctgagatgccatacccagatgaaacaaatctg
cataccacaaatgttgcacagtcaattgggccaacccctgtctgcttacagctgacagaa
gaagacttggaaaccaacaagctagacccaaaagaagttgataagaacctcaaggaaagc
tctgatgagaatctcatggagcactctcttaaacagttcagtggcccagacccactgagc
agtactagttctagcttgctttacccactcataaaacttgcagtagaagcaactggacag
caggacttcacacagactgcaaatggccaagcatgtttgattcctgatgttctgcctact
cagatctatcctctccccaagcagcagaaccttcccaagagacctactagtttgcctttg
aacaccaaaaattcaacaaaagagccccggctaaaatttggcagcaagcacaaatcaaac
ttgaaacaagtcgaaactggagttgccaagatgaatacaatcaatgcagcagaacctcat
gtggtgacagtcaccatgaatggtgtggcaggtagaaaccacagtgttaactcccatgct
gccacaacccaatatgccaatgggacagtactatctggccaaacaaccaacatagtgaca
catagggcccaagaaatgttgcagaatcagtttattggtgaggacacccggctgaatatt
aattccagtcctgatgagcatgagcctttactgagacgagagcaacaagctggccatgat
gaaggtgttctggatcgtcttgtggacaggagggaacggccactagaaggtggccgaact
aattccaataacaacaacagcaatccatgttcagaacaagatgttcttgcacagggtgtt
ccaagcacagcagcagatcctgggccatcaaagcccagaagagcacagaggcctaattct
ctggatctttcagccacaaatgtcctggatggcagcagtatacagataggtgagtcaaca
caagatggcaaatcaggatcaggtgaaaagatcaagaaacgtgtgaaaactccctattct
cttaagcggtggcgcccctccacctgggtcatctccactgaatcgctggactgtgaagtc
aacaataatggcagtaacagggcagttcattccaaatccagcactgctgtttaccttgca
gaaggaggcactgctacaaccatggtgtctaaagatataggaatgaactgtctgtga

Protein Sequence

>659 : length: 1038
MTSSLQRPWRVPWLPWTILLVSTAAASQNQERLCAFKDPYQQDLGIGESRISHENGTILC
SKGSTCYGLWEKSKGDINLVKQGCWSHIGDPQECHYEECVVTTTPPSIQNGTYRFCCCST
DLCNVNFTENFPPPDTTPLSPPHSFNRDETIIIALASVSVLAVLIVALCFGYRMLTGDRK
QGLHSMNMMEAAASEPSLDLDNLKLLELIGRGRYGAVYKGSLDERPVAVKVFSFANRQNF
INEKNIYRVPLMEHDNIARFIVGDERVTADGRMEYLLVMEYYPNGSLCKYLSLHTSDWVS
SCRLAHSVTRGLAYLHTELPRGDHYKPAISHRDLNSRNVLVKNDGTCVISDFGLSMRLTG
NRLVRPGEEDNAAISEVGTIRYMAPEVLEGAVNLRDCESALKQVDMYALGLIYWEIFMRC
TDLFPGESVPEYQMAFQTEVGNHPTFEDMQVLVSREKQRPKFPEAWKENSLAVRSLKETI
EDCWDQDAEARLTAQCAEERMAELMMIWERNKSVSPTVNPMSTAMQNERNLSHNRRVPKI
GPYPDYSSSSYIEDSIHHTDSIVKNISSEHSMSSTPLTIGEKNRNSINYERQQAQARIPS
PETSVTSLSTNTTTTNTTGLTPSTGMTTISEMPYPDETNLHTTNVAQSIGPTPVCLQLTE
EDLETNKLDPKEVDKNLKESSDENLMEHSLKQFSGPDPLSSTSSSLLYPLIKLAVEATGQ
QDFTQTANGQACLIPDVLPTQIYPLPKQQNLPKRPTSLPLNTKNSTKEPRLKFGSKHKSN
LKQVETGVAKMNTINAAEPHVVTVTMNGVAGRNHSVNSHAATTQYANGTVLSGQTTNIVT
HRAQEMLQNQFIGEDTRLNINSSPDEHEPLLRREQQAGHDEGVLDRLVDRRERPLEGGRT
NSNNNNSNPCSEQDVLAQGVPSTAADPGPSKPRRAQRPNSLDLSATNVLDGSSIQIGEST
QDGKSGSGEKIKKRVKTPYSLKRWRPSTWVISTESLDCEVNNNGSNRAVHSKSSTAVYLA
EGGTATTMVSKDIGMNCL



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