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

    Gene ID: 14563, updated on 28-Oct-2024

    Summary

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    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

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    See Gdf5 in Genome Data Viewer
    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_000068.8Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 83, member C Neighboring gene ubiquinol-cytochrome c reductase complex assembly factor 1 Neighboring gene predicted gene, 54125 Neighboring gene STARR-seq mESC enhancer starr_06151 Neighboring gene STARR-seq mESC enhancer starr_06152 Neighboring gene centrosomal protein 250 Neighboring gene predicted gene, 50621 Neighboring gene RIKEN cDNA 6430550D23 gene Neighboring gene STARR-positive B cell enhancer ABC_E9074 Neighboring gene ERGIC and golgi 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. The effect of growth/differentiation factor-5 deficiency on femoral composition and mechanical behavior in mice. Mikic B, et al. Bone, 2002 May. PMID 11996912
    2. GDF5 Promotes White Adipose Tissue Thermogenesis via p38 MAPK Signaling Pathway. Zhang W, et al. DNA Cell Biol, 2019 Nov. PMID 31553232
    3. A study of the action of the brachypodism-H gene on development of the long bones of the hind limbs in the mouse. Konyukhov BV, et al. Folia Biol (Praha), 1966. PMID 5949834
    4. Accelerated maturation of limb mesenchyme by the BrachypodH mouse mutation. Owens EM, et al. Differentiation, 1983. PMID 6309591
    5. Cell-cell interaction by mouse limb cells during in vitro chondrogenesis: analysis of the brachypod mutation. Owens EM, et al. Dev Biol, 1982 Jun. PMID 7095270

    See all (227) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. HOXA10 promotes Gdf5 expression in articular chondrocytes.
      Title: HOXA10 promotes Gdf5 expression in articular chondrocytes.
    3. GDF5 deficiency prevents cardiac rupture following acute myocardial infarction in mice.
      Title: GDF5 deficiency prevents cardiac rupture following acute myocardial infarction in mice.
    4. [GDF5: a therapeutic candidate for combating sarcopenia].
      Title: [GDF5: a therapeutic candidate for combating sarcopenia].
    5. 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.
    6. GDF-5 induces epidermal stem cell migration via RhoA-MMP9 signalling.
      Title: GDF-5 induces epidermal stem cell migration via RhoA-MMP9 signalling.
    7. Regulation of Gdf5 expression in joint remodelling, repair and osteoarthritis.
      Title: Regulation of Gdf5 expression in joint remodelling, repair and osteoarthritis.
    8. 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.
    9. 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.
    10. 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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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)

    1. 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

    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

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      155782943..155787204 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P43027.2 GenPept UniProtKB/Swiss-Prot:P43027

    Gene LinkOut

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