Gdf2 growth differentiation factor 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gdf2provided by MGI
Official Full Name: growth differentiation factor 2provided by MGI
Primary source: MGI:MGI:1321394
See related: Ensembl:ENSMUSG00000072625 AllianceGenome:MGI:1321394
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: Bmp9
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 regulates cartilage and bone development, angiogenesis and differentiation of cholinergic central nervous system neurons. Homozygous null mice exhibit malformations of the vasculature and skeleton. [provided by RefSeq, Jul 2016]
Expression: Biased expression in liver E18 (RPKM 3.6), liver E14.5 (RPKM 2.8) and 2 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 B; 14 20.8 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (33662996..33669155)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (33941039..33947198)

Chromosome 14 - NC_000080.7 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?

BMP9 is a key player in endothelial identity and its loss is sufficient to induce arteriovenous malformations.
Title: BMP9 is a key player in endothelial identity and its loss is sufficient to induce arteriovenous malformations.
Hepatic-derived BMP9 is involved in hepatic fibrosis-induced kidney injury through inhibition of renal VEGFA.
Title: Hepatic-derived BMP9 is involved in hepatic fibrosis-induced kidney injury through inhibition of renal VEGFA.
Lysyl oxidase inhibits BMP9-induced osteoblastic differentiation through reducing Wnt/beta-catenin via HIF-1a repression in 3T3-L1 cells.
Title: Lysyl oxidase inhibits BMP9-induced osteoblastic differentiation through reducing Wnt/β-catenin via HIF-1a repression in 3T3-L1 cells.
Effect of the secretome of mesenchymal stem cells overexpressing BMP-9 on osteoblast differentiation and bone repair.
Title: Effect of the secretome of mesenchymal stem cells overexpressing BMP-9 on osteoblast differentiation and bone repair.
MMP13 promotes the osteogenic potential of BMP9 by enhancing Wnt/beta-catenin signaling via HIF-1alpha upregulation in mouse embryonic fibroblasts.
Title: MMP13 promotes the osteogenic potential of BMP9 by enhancing Wnt/β-catenin signaling via HIF-1α upregulation in mouse embryonic fibroblasts.
BMP9 functions as a negative regulator in the myogenic differentiation of primary mouse myoblasts.
Title: BMP9 functions as a negative regulator in the myogenic differentiation of primary mouse myoblasts.
Early induction of Hes1 by bone morphogenetic protein 9 plays a regulatory role in osteoblastic differentiation of a mesenchymal stem cell line.
Title: Early induction of Hes1 by bone morphogenetic protein 9 plays a regulatory role in osteoblastic differentiation of a mesenchymal stem cell line.
The effects of Gli1 and Gli2 on BMP9-induced osteogenic differentiation of mesenchymal stem cells.
Title: The effects of Gli1 and Gli2 on BMP9-induced osteogenic differentiation of mesenchymal stem cells.
LCN2 Inhibits the BMP9-induced Osteogenic Differentiation through Reducing Wnt/beta-catenin Signaling via Interacting with LRP6 in Mouse Embryonic Fibroblasts.
Title: LCN2 Inhibits the BMP9-induced Osteogenic Differentiation through Reducing Wnt/β-catenin Signaling via Interacting with LRP6 in Mouse Embryonic Fibroblasts.
Endothelial tip/stalk cell selection requires BMP9-induced betaIV-spectrin expression during sprouting angiogenesis.
Title: Endothelial tip/stalk cell selection requires BMP9-induced β(IV)-spectrin expression during sprouting angiogenesis.

Submit: New GeneRIF Correction See all GeneRIFs (80)

Variation

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Alleles

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

Endonuclease-mediated (4)
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Gdf2 (e-PCR), detects polymorphism
- UniSTS:178182

Gdf2 (e-PCR), detects polymorphism
- UniSTS:496655

Gdf2 (e-PCR), detects polymorphism
- UniSTS:496656

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables cytokine activity	IBA Inferred from Biological aspect of Ancestor more info
enables cytokine activity	IEA Inferred from Electronic Annotation more info
enables cytokine activity	ISO Inferred from Sequence Orthology more info
enables growth factor activity	IEA Inferred from Electronic Annotation more info
enables growth factor activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine/threonine kinase activator activity	IEA Inferred from Electronic Annotation more info
enables protein serine/threonine kinase activator activity	ISO Inferred from Sequence Orthology 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	IEA Inferred from Electronic Annotation more info
involved_in BMP signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in activin receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in activin receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in angiogenesis	ISO Inferred from Sequence Orthology more info
involved_in angiogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in blood vessel morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in branching involved in blood vessel morphogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in branching involved in blood vessel morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in cellular response to BMP stimulus	ISO Inferred from Sequence Orthology more info
involved_in glucose metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in intracellular iron ion homeostasis	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of cell growth	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell growth	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of endothelial cell migration	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of endothelial cell migration	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of endothelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of endothelial cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in neuron differentiation	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within osteoblast differentiation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of BMP signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of Notch signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of positive regulation of Notch signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of SMAD protein signal transduction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of SMAD protein signal transduction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of angiogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of angiogenesis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of bicellular tight junction assembly	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of bicellular tight junction assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cartilage development	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of endothelial cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of endothelial cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of endothelial cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of epithelial cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interleukin-8 production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of interleukin-8 production	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
NOT involved_in regulation of transforming growth factor beta receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in vasculogenesis	IDA Inferred from Direct Assay more info	PubMed

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
is_active_in extracellular space	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: growth/differentiation factor 2

Names: bone morphogenetic protein 9

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_019506.4 → NP_062379.3 growth/differentiation factor 2 preproprotein

See identical proteins and their annotated locations for NP_062379.3

Status: REVIEWED

Source sequence(s)

AC166828

Consensus CDS

CCDS26928.1

UniProtKB/Swiss-Prot

Q3ZAS6, Q9QZE0, Q9WV56

Related

ENSMUSP00000098286.2, ENSMUST00000100720.2

Conserved Domains (2) summary

cd19400
Location:324 → 428

TGF_beta_BMP9; transforming growth factor beta (TGF-beta) like domain found in bone morphogenetic protein 9 (BMP-9) and similar proteins

cl02928
Location:75 → 215

TGFb_propeptide; TGF-beta propeptide