BMPR2

GENE INFORMATION

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Gene name

BMPR2 (HGNC Symbol)

Synonyms

BMPR-II, BMPR3, BRK-3, PPH1, T-ALK

Description

bone morphogenetic protein receptor, type II (serine/threonine kinase) (HGNC Symbol)

Entrez gene summary

This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of two different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension, both familial and fenfluramine-associated, and with pulmonary venoocclusive disease. [provided by RefSeq, Jul 2008]

Chromosome

2 (Chromosome progress)

Cytoband

q33.1

Chromosome location (bp)

203241659 - 203432474

Ensembl

ENSG00000204217 (version 73.37)

Entrez gene

659

UniProt

Q13873 (UniProt - Evidence at protein level)

neXtProt

NX_Q13873

Antibodypedia

BMPR2 antibodies
 

PROTEIN VIEW

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BMPR2-001
 
BMPR2-002
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

BMPR2-001 ENSP00000363708
ENST00000374580
Q13873
Show all »
Show » Show » 1038 115.2 Yes 2
BMPR2-002 ENSP00000363702
ENST00000374574
Q13161
Show all »
Show » Show » 530 60 Yes 2