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    Gdf7 growth differentiation factor 7 [ Mus musculus (house mouse) ]

    Gene ID: 238057, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Gdf7provided by MGI
    Official Full Name
    growth differentiation factor 7provided by MGI
    Primary source
    MGI:MGI:95690
    See related
    Ensembl:ENSMUSG00000037660 AllianceGenome:MGI:95690
    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
    BMP12
    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 may play a role in the differentiation of tendon cells and spinal cord interneurons. Mice lacking a functional copy of this gene exhibit absence of some spinal dopaminergic neurons and brain defects, male sterility, and premature death. [provided by RefSeq, Sep 2016]
    Expression
    Biased expression in subcutaneous fat pad adult (RPKM 19.2), ovary adult (RPKM 11.1) and 2 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Gdf7 in Genome Data Viewer
    Location:
    12 A1.1; 12 3.85 cM
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (8347918..8351954, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (8297918..8301954, complement)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene apolipoprotein B Neighboring gene STARR-seq mESC enhancer starr_31489 Neighboring gene predicted gene, 33037 Neighboring gene STARR-seq mESC enhancer starr_31490 Neighboring gene STARR-seq mESC enhancer starr_31491 Neighboring gene STARR-seq mESC enhancer starr_31492 Neighboring gene STARR-positive B cell enhancer ABC_E8885 Neighboring gene lipid droplet associated hydrolase Neighboring gene STARR-seq mESC enhancer starr_31493 Neighboring gene CapStarr-seq enhancer MGSCv37_chr12:8320448-8320557 Neighboring gene STARR-positive B cell enhancer mm9_chr12:8333629-8333930 Neighboring gene HCLS1 binding protein 3 Neighboring gene STARR-seq mESC enhancer starr_31498 Neighboring gene predicted gene, 48071 Neighboring gene predicted gene, 33134

    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
    • 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. Accelerated hypertrophic chondrocyte kinetics in GDF-7 deficient murine tibial growth plates. Mikic B, et al. J Orthop Res, 2008 Jul. PMID 18302280
    2. Achilles tendon characterization in GDF-7 deficient mice. Mikic B, et al. J Orthop Res, 2006 Apr. PMID 16514625
    3. Geometric and material contributions to whole bone structural behavior in GDF-7-deficient mice. Maloul A, et al. Connect Tissue Res, 2006. PMID 16753809
    4. Effect of GDF-7 deficiency on tail tendon phenotype in mice. Mikic B, et al. J Orthop Res, 2008 Jun. PMID 18240333
    5. Growth/differentiation factor 7 is preferentially expressed in the primary motor area of the monkey neocortex. Watakabe A, et al. J Neurochem, 2001 Mar. PMID 11238730

    See all (59) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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 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 IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    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 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
    		  
    acts_upstream_of_or_within axon guidance IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within branching morphogenesis of an epithelial tube IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cell fate commitment IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within epithelial cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within forebrain morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within gland morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within midbrain development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within morphogenesis of an epithelial fold IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within neural tube development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription 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 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 gene expression IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of neuron differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of tendon cell differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within reproductive structure development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within roof plate formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within spinal cord association neuron differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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
    		  

    General protein information

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    Preferred Names
    growth/differentiation factor 7
    Names
    GDF-7

    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_001312876.1 → NP_001299805.1  growth/differentiation factor 7 isoform 1 preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC122860
      Consensus CDS
      CCDS83954.1
      UniProtKB/Swiss-Prot
      P43029, Q7TNX4, Q99MY1
      Related
      ENSMUSP00000038301.5, ENSMUST00000037313.6
      Conserved Domains (2) summary
      smart00204
      Location:363 → 461
      TGFB; Transforming growth factor-beta (TGF-beta) family
      pfam00688
      Location:87 → 232
      TGFb_propeptide; TGF-beta propeptide

    2. NM_013527.1 → NP_038555.1  growth/differentiation factor 7 isoform 2 preproprotein

      See identical proteins and their annotated locations for NP_038555.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AC122860
      Consensus CDS
      CCDS88308.1
      UniProtKB/Swiss-Prot
      P43029
      Related
      ENSMUSP00000151234.2, ENSMUST00000220073.2
      Conserved Domains (2) summary
      smart00204
      Location:355 → 453
      TGFB; Transforming growth factor-beta (TGF-beta) family
      pfam00688
      Location:87 → 224
      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_000078.7 Reference GRCm39 C57BL/6J

      Range
      8347918..8351954 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P43029.2 GenPept UniProtKB/Swiss-Prot:P43029

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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