Gdf6 growth differentiation factor 6 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gdf6provided by MGI
Official Full Name: growth differentiation factor 6provided by MGI
Primary source: MGI:MGI:95689
See related: Ensembl:ENSMUSG00000051279 AllianceGenome:MGI:95689
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: BMP13; GDF16; BMP-13
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 is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mice lacking a functional copy of this gene exhibit joint and skeletal defects. [provided by RefSeq, Sep 2016]
Expression: Biased expression in spleen adult (RPKM 5.5), limb E14.5 (RPKM 1.7) and 5 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 A1; 4 4.35 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (9844372..9862345)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (9844372..9862345)

Chromosome 4 - NC_000070.7 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?

Defective Joint Development and Maintenance in GDF6-Related Multiple Synostoses Syndrome.
Title: Defective Joint Development and Maintenance in GDF6-Related Multiple Synostoses Syndrome.
Bone morphogenetic protein 13 in hepatic stellate cells and hepatic fibrosis.
Title: Bone morphogenetic protein 13 in hepatic stellate cells and hepatic fibrosis.
Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development.
Title: Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development.
Upregulation of Gdf6 restored the osteogenic capacity of old mesenchymal stem cells in vitro and exerted positive effects in vivo on aging-associated pathologies such as reduced lymphopoiesis, insufficient muscle repair, reduced numbers of neural progenitors in the brain, and chronic inflammation.
Title: Growth differentiation factor 6 derived from mesenchymal stem/stromal cells reduces age-related functional deterioration in multiple tissues.
data indicate that BMP9 and BMP13 (BMP9 might be more effective) promoted the differentiation of C3H10T1/2 cells into cardiomyocyte-like cells
Title: Bone Morphogenetic Protein 9 and 13 Induce C3H10T1/2 Cell Differentiation to Cardiomyocyte-Like Cells In Vitro.
Over-expression of Gdf6 induces commitment of pluripotent mesenchymal C3H10T1/2 cells to the adipocyte lineage.
Title: Gdf6 induces commitment of pluripotent mesenchymal C3H10T1/2 cells to the adipocyte lineage.
Gdf6 plays an inhibitory role to prevent the osteogenic differentiation of the coronal suture mesenchyme
Title: The BMP ligand Gdf6 prevents differentiation of coronal suture mesenchyme in early cranial development.
a critical role of HTRA1 in the regulation of angiogenesis via TGF-beta signaling and identified GDF6 as a novel disease gene for AMD.
Title: High temperature requirement factor A1 (HTRA1) gene regulates angiogenesis through transforming growth factor-β family member growth differentiation factor 6.
These data suggest a potential role for BMP-13 (the human homologue to GDF-6) in tendon matrix modeling and/or remodeling.
Title: Sexual dimorphism in the effect of GDF-6 deficiency on murine tendon.
These data establish the important role of growth differentiation factor 6 in ocular and vertebral development.
Title: Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Variation

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Alleles

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

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

General gene information

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Markers

Gdf6 (e-PCR), detects polymorphism
- UniSTS:496659

Gdf6 (e-PCR), detects polymorphism
- UniSTS:472879

Gdf6 (e-PCR), detects polymorphism
- UniSTS:474710

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables cytokine activity	IBA Inferred from Biological aspect of Ancestor more info
enables growth factor activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables receptor ligand activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within BMP signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within BMP signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in BMP signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in BMP signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in BMP signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in SMAD protein signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in SMAD protein signal transduction	ISO Inferred from Sequence Orthology more info
involved_in activin receptor signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within apoptotic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within_positive_effect cell migration involved in metanephros development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within_positive_effect epithelial cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fat cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within_positive_effect metanephric tubule development	ISO Inferred from Sequence Orthology more info	PubMed
involved_in metanephros development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within_positive_effect metanephros development	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of SMAD protein signal transduction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of chondrocyte differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of neuron differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of p38MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: growth/differentiation factor 6

Names: GDF-6; bone morphogenetic protein 13; growth/differentiation factor 16

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_013526.1 → NP_038554.1 growth/differentiation factor 6 preproprotein

See identical proteins and their annotated locations for NP_038554.1

Status: REVIEWED

Source sequence(s)

AL732476, BC141339

Consensus CDS

CCDS17960.1

UniProtKB/Swiss-Prot

P43028, Q70UT4

UniProtKB/TrEMBL

A2AII0

Related

ENSMUSP00000062884.3, ENSMUST00000057613.3

Conserved Domains (2) summary

pfam00019
Location:352 → 453

TGF_beta; Transforming growth factor beta like domain

pfam00688
Location:75 → 284

TGFb_propeptide; TGF-beta propeptide