Bmpr2 bone morphogenetic protein receptor type 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Bmpr2provided by MGI
Official Full Name: bone morphogenetic protein receptor type 2provided by MGI
Primary source: MGI:MGI:1095407
See related: Ensembl:ENSMUSG00000067336 AllianceGenome:MGI:1095407
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: BMP-2; BRK-3; BMPR-2; BMPRII; BMPR-II; Gm20272; 2610024H22Rik
Summary: This gene encodes a serine/threonine kinase that functions as a receptor for bone morphogenetic proteins (BMPs). The encoded protein is a type II receptor that binds extracellular BMPs and forms a complex of two type II and two type I receptors at the cell membrane. This complex signals downstream to activate SMAD transcriptional regulators. This signaling is important during embryonic development. Mutations in this gene can cause pulmonary hypertension. [provided by RefSeq, Mar 2013]
Expression: Broad expression in lung adult (RPKM 22.1), frontal lobe adult (RPKM 8.3) and 19 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 C2; 1 30.44 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (59802721..59917240)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (59764279..59878081)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Schistosomiasis-associated pulmonary hypertension unveils disrupted murine gut-lung microbiome and reduced endoprotective Caveolin-1/BMPR2 expression.
Title: Schistosomiasis-associated pulmonary hypertension unveils disrupted murine gut-lung microbiome and reduced endoprotective Caveolin-1/BMPR2 expression.
Dysregulated Smooth Muscle Cell BMPR2-ARRB2 Axis Causes Pulmonary Hypertension.
Title: Dysregulated Smooth Muscle Cell BMPR2-ARRB2 Axis Causes Pulmonary Hypertension.
PTPN1 Deficiency Modulates BMPR2 Signaling and Induces Endothelial Dysfunction in Pulmonary Arterial Hypertension.
Title: PTPN1 Deficiency Modulates BMPR2 Signaling and Induces Endothelial Dysfunction in Pulmonary Arterial Hypertension.
BMPR2 Variants Underlie Nonsyndromic Oligodontia.
Title: BMPR2 Variants Underlie Nonsyndromic Oligodontia.
BMPR-2 gates activity-dependent stabilization of primary dendrites during mitral cell remodeling.
Title: BMPR-2 gates activity-dependent stabilization of primary dendrites during mitral cell remodeling.
Gonadotrope-specific deletion of the BMP type 2 receptor does not affect reproductive physiology in micedaggerdouble dagger.
Title: Gonadotrope-specific deletion of the BMP type 2 receptor does not affect reproductive physiology in mice†‡.
BMPR2 promotes fatty acid oxidation and protects white adipocytes from cell death in mice.
Title: BMPR2 promotes fatty acid oxidation and protects white adipocytes from cell death in mice.
An endothelial activin A-bone morphogenetic protein receptor type 2 link is overdriven in pulmonary hypertension.
Title: An endothelial activin A-bone morphogenetic protein receptor type 2 link is overdriven in pulmonary hypertension.
miR-494 regulates BMP signaling by directly targeting BMPR2 and RUNX2, and thus suppresses BMP2-induced osteogenetic differentiation at multiple levels.
Title: Mir-494 inhibits osteoblast differentiation by regulating BMP signaling in simulated microgravity.
COMP regulation of BMPR2 appears to have an important role in controlling hypoxia-elicited changes in pulmonary artery superoxide and its potential regulation of contractile phenotype proteins.
Title: Potential role of cartilage oligomeric matrix protein in the modulation of pulmonary arterial smooth muscle superoxide by hypoxia.

Submit: New GeneRIF Correction See all GeneRIFs (78)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (1) 1 citation
Targeted (7) 1 citation
Chemically induced (ENU) (1)
Endonuclease-mediated (4)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Bmpr2 (e-PCR), detects polymorphism
- UniSTS:496649

D17S756 (e-PCR)
- UniSTS:43024

Bmpr2 (e-PCR), detects polymorphism
- UniSTS:480337

BB189135 (e-PCR)
- UniSTS:185437

21.MMHAP94FLG3.seq (e-PCR)
- UniSTS:123545

AW546137 (e-PCR)
- UniSTS:178396

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables BMP binding	IDA Inferred from Direct Assay more info	PubMed
enables BMP binding	ISO Inferred from Sequence Orthology more info
enables BMP receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables BMP receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables activin receptor activity, type II	ISO Inferred from Sequence Orthology more info
enables cadherin binding	ISO Inferred from Sequence Orthology more info
enables growth factor binding	ISO Inferred from Sequence Orthology more info
enables kinase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activity	IEA Inferred from Electronic Annotation more info
enables protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein serine/threonine kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein tyrosine kinase binding	ISO Inferred from Sequence Orthology more info
enables transferase activity	IEA Inferred from Electronic Annotation more info
enables transforming growth factor beta receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables transmembrane receptor protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in BMP signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within BMP signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in BMP signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within BMP signaling pathway	ISO Inferred from Sequence Orthology more info	PubMed
involved_in BMP signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within anterior/posterior pattern specification	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within anterior/posterior pattern specification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in aortic valve development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in artery development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in atrial septum morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in atrioventricular valve morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in blood vessel development	IBA Inferred from Biological aspect of Ancestor more info
involved_in blood vessel remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in cardiac muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell surface receptor protein serine/threonine kinase signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in cellular response to BMP stimulus	ISO Inferred from Sequence Orthology more info
involved_in cellular response to growth factor stimulus	IBA Inferred from Biological aspect of Ancestor more info
involved_in chondrocyte development	ISO Inferred from Sequence Orthology more info
involved_in endocardial cushion development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endothelial cell apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in endothelial cell proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within limb development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in lung alveolus development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lung vasculature development	ISO Inferred from Sequence Orthology more info
involved_in lymphangiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lymphatic endothelial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within maternal placenta development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mesoderm formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitral valve morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell growth	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell proliferation involved in heart valve morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of chondrocyte proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of muscle cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of smooth muscle cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of systemic arterial blood pressure	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of vasoconstriction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in osteoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in osteoblast differentiation	ISO Inferred from Sequence Orthology more info
involved_in outflow tract morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in outflow tract septum morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in outflow tract septum morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in pharyngeal arch artery morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pharyngeal arch artery morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within phosphorylation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of SMAD protein signal transduction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of axon extension involved in axon guidance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of bone mineralization	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of epithelial cell migration	ISO Inferred from Sequence Orthology more info
acts_upstream_of positive regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of ossification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of osteoblast differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of protein phosphorylation	ISO Inferred from Sequence Orthology more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in protein phosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in pulmonary valve development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in regulation of lung blood pressure	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of lung blood pressure	ISO Inferred from Sequence Orthology more info
involved_in retina vasculature development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in semi-lunar valve development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in tricuspid valve morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in venous blood vessel development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ventricular septum morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in adherens junction	ISO Inferred from Sequence Orthology more info
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in axon	IDA Inferred from Direct Assay more info	PubMed
located_in basal plasma membrane	ISO Inferred from Sequence Orthology more info
colocalizes_with caveola	ISO Inferred from Sequence Orthology more info
located_in caveola	ISO Inferred from Sequence Orthology more info
is_active_in cell body	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
is_active_in clathrin-coated pit	IDA Inferred from Direct Assay more info	PubMed
is_active_in dendrite	IDA Inferred from Direct Assay more info	PubMed
located_in dendrite	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane region	IDA Inferred from Direct Assay more info	PubMed
located_in postsynaptic density	IDA Inferred from Direct Assay more info	PubMed
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: bone morphogenetic protein receptor type-2

Names: BMP type II receptor; BMP type-2 receptor; bone morphogenetic protein receptor, type II (serine/threonine kinase); bone morphogenic protein receptor, type II (serine/threonine kinase)

NP_031587.1

EC 2.7.11.30

XP_006495696.1

EC 2.7.11.30

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_007561.4 → NP_031587.1 bone morphogenetic protein receptor type-2 precursor

See identical proteins and their annotated locations for NP_031587.1

Status: REVIEWED

Source sequence(s)

AC125377, AK138715, AK148180, AK149385, BM940059

Consensus CDS

CCDS35588.1

UniProtKB/Swiss-Prot

O35607

Related

ENSMUSP00000084701.6, ENSMUST00000087435.7

Conserved Domains (3) summary

smart00220
Location:204 → 495

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd14054
Location:207 → 504

STKc_BMPR2_AMHR2; Catalytic domain of the Serine/Threonine Kinases, Bone Morphogenetic Protein and Anti-Muellerian Hormone Type II Receptors

pfam01064
Location:60 → 131

Activin_recp; Activin types I and II receptor domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000067.7 Reference GRCm39 C57BL/6J

Range

59802721..59917240

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006495633.3 → XP_006495696.1 bone morphogenetic protein receptor type-2 isoform X1

Conserved Domains (2) summary

cd14054
Location:207 → 504

STKc_BMPR2_AMHR2; Catalytic domain of the Serine/Threonine Kinases, Bone Morphogenetic Protein and Anti-Muellerian Hormone Type II Receptors

pfam01064
Location:46 → 127

Activin_recp; Activin types I and II receptor domain