Bmp3 bone morphogenetic protein 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Bmp3provided by MGI
Official Full Name: bone morphogenetic protein 3provided by MGI
Primary source: MGI:MGI:88179
See related: Ensembl:ENSMUSG00000029335 AllianceGenome:MGI:88179
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: 9530029I04Rik
Summary: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein suppresses osteoblast differentiation, and negatively regulates bone density, by modulating TGF-beta receptor availability to other ligands. Homozygous knockout mice for this gene exhibit increased bone density and volume, while overexpression of this gene in a transgenic mouse causes bone defects resulting in spontaneous rib fractures. This gene encodes distinct protein isoforms that may be similarly proteolytically processed. [provided by RefSeq, Jul 2016]
Expression: Biased expression in bladder adult (RPKM 21.8), lung adult (RPKM 8.1) and 11 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 E3; 5 48.24 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (99002274..99031912)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (98854415..98884053)

Chromosome 5 - NC_000071.7 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?

BMP3 Affects Cortical and Trabecular Long Bone Development in Mice.
Title: BMP3 Affects Cortical and Trabecular Long Bone Development in Mice.
In two murine models of rheumatoid arthritis, BMP3 mRNA and protein are highly expressed by osteoblasts lining inflammation-bone interfaces late in the course of arthritis.
Title: Inflammation in arthritis induces expression of BMP3, an inhibitor of bone formation.
the Bmp3/Wisp1 signaling pathway play a key role in mesenchymal stem cell proliferation, and consequently adipogenesis.
Title: Wisp1 mediates Bmp3-stimulated mesenchymal stem cell proliferation.
This region may preserve common cis-regulatory elements that govern Bmp3 expression across eutherian mammals.
Title: Comparative genomics identifies the mouse Bmp3 promoter and an upstream evolutionary conserved region (ECR) in mammals.
findings best fit a model in which BMP3, produced by mature bone cells, acts to reduce BMP signaling through Acvr2b in skeletal progenitor cells, limiting their differentiation to mature osteoblasts
Title: BMP3 suppresses osteoblast differentiation of bone marrow stromal cells via interaction with Acvr2b.
Data suggest that BMP3 exerts its effects in the skeleton by altering signaling through ActRIIB in chondrocytes and the periosteum, and this results in defects in bone collar formation and late hypertrophic chondrocyte maturation.
Title: Overexpression of BMP3 in the developing skeleton alters endochondral bone formation resulting in spontaneous rib fractures.
BMP-2 and -7 were detected in Hertwig's epithelial root sheath (HERS) and in DF, then later in differentiated periodontal cells. BMP-3 was detected after D13 of the periodontal development.
Title: Localization of STRO-1, BMP-2/-3/-7, BMP receptors and phosphorylated Smad-1 during the formation of mouse periodontium.

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Variation

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Alleles

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

Endonuclease-mediated (3)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Bmp3 (e-PCR), detects polymorphism
- UniSTS:496640

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables BMP receptor binding	ISO Inferred from Sequence Orthology more info	PubMed
enables cytokine activity	IBA Inferred from Biological aspect of Ancestor more info
enables cytokine activity	IEA Inferred from Electronic Annotation more info
enables growth factor activity	IEA Inferred from Electronic Annotation more info
enables growth factor activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in cartilage development	IEA Inferred from Electronic Annotation more info
involved_in osteoblast differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IEA Inferred from Electronic Annotation more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in vesicle	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: bone morphogenetic protein 3

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_001310677.2 → NP_001297606.1 bone morphogenetic protein 3 isoform 1 precursor

See identical proteins and their annotated locations for NP_001297606.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). This isoform (1) may undergo proteolytic processing similar to isoform 2.

Source sequence(s)

AC141896, AK035299, AK035393

Consensus CDS

CCDS80345.1

UniProtKB/TrEMBL

A0A0G2JE75, A0A0G2JEU2

Related

ENSMUSP00000142907.2, ENSMUST00000200388.2

Conserved Domains (1) summary

pfam00019
Location:364 → 424

TGF_beta; Transforming growth factor beta like domain
NM_173404.5 → NP_775580.1 bone morphogenetic protein 3 isoform 2 preproprotein

See identical proteins and their annotated locations for NP_775580.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a distinct, shorter C-terminus compared to isoform 1.

Source sequence(s)

AC141896, AK035299, AK040389

Consensus CDS

CCDS19458.1

UniProtKB/Swiss-Prot

Q8BHE5

UniProtKB/TrEMBL

A0A0G2JE75, Q149J9

Related

ENSMUSP00000031278.5, ENSMUST00000031278.6

Conserved Domains (1) summary

pfam00019
Location:364 → 467

TGF_beta; Transforming growth factor beta like domain