Gdf5 growth differentiation factor 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gdf5provided by MGI
Official Full Name: growth differentiation factor 5provided by MGI
Primary source: MGI:MGI:95688
See related: Ensembl:ENSMUSG00000038259 AllianceGenome:MGI:95688
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: bp; brp; BMP-14; Cdmp-1
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 the development of numerous tissue and cell types, including cartilage, joints, brown fat, teeth, and the growth of neuronal axons and dendrites. Mice with a mutation in this gene exhibit enhanced tooth enamel formation. [provided by RefSeq, Aug 2016]
Expression: Biased expression in limb E14.5 (RPKM 16.4) and subcutaneous fat pad adult (RPKM 1.2) See more
Orthologs: human all
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Genomic context

Location:: 2 H1; 2 77.26 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (155782943..155787204, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (155941023..155945367, complement)

Chromosome 2 - NC_000068.8 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 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?

The role of GDF5 in regulating enthesopathy development in the Hyp mouse model of XLH.
Title: The role of GDF5 in regulating enthesopathy development in the Hyp mouse model of XLH.
HOXA10 promotes Gdf5 expression in articular chondrocytes.
Title: HOXA10 promotes Gdf5 expression in articular chondrocytes.
GDF5 deficiency prevents cardiac rupture following acute myocardial infarction in mice.
Title: GDF5 deficiency prevents cardiac rupture following acute myocardial infarction in mice.
[GDF5: a therapeutic candidate for combating sarcopenia].
Title: [GDF5: a therapeutic candidate for combating sarcopenia].
Regulatory Mechanisms of Prg4 and Gdf5 Expression in Articular Cartilage and Functions in Osteoarthritis.
Title: Regulatory Mechanisms of Prg4 and Gdf5 Expression in Articular Cartilage and Functions in Osteoarthritis.
GDF-5 induces epidermal stem cell migration via RhoA-MMP9 signalling.
Title: GDF-5 induces epidermal stem cell migration via RhoA-MMP9 signalling.
Regulation of Gdf5 expression in joint remodelling, repair and osteoarthritis.
Title: Regulation of Gdf5 expression in joint remodelling, repair and osteoarthritis.
An embryonic CaVbeta1 isoform promotes muscle mass maintenance via GDF5 signaling in adult mouse.
Title: An embryonic CaVβ1 isoform promotes muscle mass maintenance via GDF5 signaling in adult mouse.
These data suggested that GDF5 regulates neuron differentiation through mediating Atoh8
Title: Growth/differentiation 5 promotes the differentiation of retinal stem cells into neurons via Atoh8.
mesenchymal cells from a GDF5 origin can contribute to zonal tendon-to-bone attachments within bone tunnels following anterior cruciate ligament reconstruction.
Title: Cells from a GDF5 origin produce zonal tendon-to-bone attachments following anterior cruciate ligament reconstruction.

Submit: New GeneRIF Correction See all GeneRIFs (54)

Phenotypes

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Associated conditions

Description	Tests
brachypod Japan GeneReviews: Not available

Variation

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Alleles

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

Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (5)
Spontaneous (8) 1 citation
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

UniSTS:496658 (e-PCR)
- UniSTS:496658

Gdf5 (e-PCR), detects polymorphism
- UniSTS:496658

REN57714 (e-PCR)
- UniSTS:382514

REN57716 (e-PCR)
- UniSTS:382516

REN57730 (e-PCR)
- UniSTS:382530

REN57733 (e-PCR)
- UniSTS:382533

Gdf5 (e-PCR), detects polymorphism
- UniSTS:461894

U08337 (e-PCR)
- UniSTS:159059

UniSTS:143190 (e-PCR)
- UniSTS:143190

Gdf5 (e-PCR), detects polymorphism
- UniSTS:143190

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables BMP binding	IEA Inferred from Electronic Annotation more info
enables BMP binding	ISO Inferred from Sequence Orthology more info
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 identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in BMP signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell surface receptor protein serine/threonine kinase signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in chondroblast differentiation	IEA Inferred from Electronic Annotation more info
involved_in chondroblast differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of chondrocyte differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within embryonic limb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within forelimb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hindlimb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of mesenchymal cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of chondrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of chondrocyte differentiation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of epithelial cell proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of mesenchymal cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuron apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in ossification involved in bone remodeling	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of BMP signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of BMP 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
acts_upstream_of_or_within positive regulation of chondrocyte differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of chondrocyte differentiation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of chondrocyte differentiation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuron differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to mechanical stimulus	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 plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: growth/differentiation factor 5

Names: bone morphogenetic protein 14; cartilage-derived morphogenetic protein-1

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_008109.4 → NP_032135.2 growth/differentiation factor 5 preproprotein

See identical proteins and their annotated locations for NP_032135.2

Status: VALIDATED

Source sequence(s)

AL845445

Consensus CDS

CCDS16958.1

UniProtKB/Swiss-Prot

A2ARK2, P43027

Related

ENSMUSP00000048079.3, ENSMUST00000040162.3

Conserved Domains (2) summary

smart00204
Location:394 → 495

TGFB; Transforming growth factor-beta (TGF-beta) family

pfam00688
Location:139 → 338

TGFb_propeptide; TGF-beta propeptide