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中文人类
BMPR2 - Bone Morphogenetic Protein Receptor Type 2
Alias:
BMR2
PPH1
BMPR3
BRK-3
POVD1
T-ALK
BMPR-II
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这个基因编码一个骨形态发生蛋白(BMP)受体家族的成员，该家族是跨膜丝氨酸/苏氨酸激酶。这个受体的配体是属于TGF-beta超家族的成员。BMPs参与软骨骨的形成和胚胎发育。这些蛋白质通过形成两种不同类型的丝氨酸(苏氨酸)激酶受体的异源复合体来传递它们的信号：约50-55kD的类型I受体和约70-80kD的类型II受体。这个基因的突变与原发性肺高血压，家族性和芬氟拉明相关的高血压以及肺静脉闭塞性疾病有关。[RefSeq提供，2020年5月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
BMPR2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
