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    Gdf9 growth differentiation factor 9 [ Mus musculus (house mouse) ]

    Gene ID: 14566, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Gdf9provided by MGI
    Official Full Name
    growth differentiation factor 9provided by MGI
    Primary source
    MGI:MGI:95692
    See related
    Ensembl:ENSMUSG00000018238 AllianceGenome:MGI:95692
    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
    Gdf-9
    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 ovarian function. Female mice that are homozygous null for this gene are sterile with impaired folliculogenesis. [provided by RefSeq, Jul 2016]
    Expression
    Biased expression in ovary adult (RPKM 37.3) and testis adult (RPKM 3.0) See more
    Orthologs
    human all
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    Genomic context

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    Location:
    11 B1.3; 11 31.94 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (53321773..53328731)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (53430774..53437904)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene liver-expressed antimicrobial peptide 2 Neighboring gene STARR-positive B cell enhancer ABC_E76 Neighboring gene ubiquinol-cytochrome c reductase, complex III subunit VII Neighboring gene predicted gene 10447 Neighboring gene shroom family member 1

    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. Effect of cumulin and super-GDF9 in standard and biphasic mouse IVM. Akin N, et al. J Assist Reprod Genet, 2022 Jan. PMID 34984599, Free PMC Article
    2. [Study on ovary development in vitrification of embryos born mice and expression of growth differentiation factor 9]. Liang LL, et al. Zhonghua Fu Chan Ke Za Zhi, 2012 Sep. PMID 23141291
    3. Inhibition of follicular development induced by chronic unpredictable stress is associated with growth and differentiation factor 9 and gonadotropin in mice. Wu LM, et al. Biol Reprod, 2012 Apr. PMID 22205697
    4. The promoter of the oocyte-specific gene, Gdf9, is active in population of cultured mouse embryonic stem cells with an oocyte-like phenotype. Salvador LM, et al. Methods, 2008 Jun. PMID 18593614, Free PMC Article
    5. Exogenous growth differentiation factor 9 in oocyte maturation media enhances subsequent embryo development and fetal viability in mice. Yeo CX, et al. Hum Reprod, 2008 Jan. PMID 17933754

    See all (109) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Effect of cumulin and super-GDF9 in standard and biphasic mouse IVM.
      Title: Effect of cumulin and super-GDF9 in standard and biphasic mouse IVM.
    2. Abnormal early folliculogenesis due to impeded pyruvate metabolism in mouse oocytesdagger.
      Title: Abnormal early folliculogenesis due to impeded pyruvate metabolism in mouse oocytes†.
    3. Activation-induced cytidine deaminase is a possible regulator of cross-talk between oocytes and granulosa cells through GDF-9 and SCF feedback system.
      Title: Activation-induced cytidine deaminase is a possible regulator of cross-talk between oocytes and granulosa cells through GDF-9 and SCF feedback system.
    4. GDF9 + BMP15, but not separately, significantly induce AMH expression in vitro and in vivo. GDF9 + BMP15, through the PI3K/Akt and Smad2/3 pathways synergistically recruit the coactivator p300 on the AMH promoter region that promotes acetylation of H3K27ac, facilitating AMH expression.
      Title: Oocyte-Derived Factors (GDF9 and BMP15) and FSH Regulate AMH Expression Via Modulation of H3K27AC in Granulosa Cells.
    5. Data show that Rac1 induced nuclear import of STAT3 by physical binding, and nuclear STAT3 directly activated the transcription of essential oocyte-specific genes, including Jagged1, GDF9 and BMP15.
      Title: Rac1 modulates the formation of primordial follicles by facilitating STAT3-directed Jagged1, GDF9 and BMP15 transcription in mice.
    6. In organogenesis of the ovary, production of Dhh/Ihh in granulosa cells requires growth differentiation factor 9 from the oocyte.
      Title: Lineage specification of ovarian theca cells requires multicellular interactions via oocyte and granulosa cells.
    7. results support a model of activation for human GDF9 dependent on cumulin formation through heterodimerization with BMP15. Oocyte-secreted cumulin is likely to be a central regulator of fertility in mono-ovular mammals.
      Title: Cumulin, an Oocyte-secreted Heterodimer of the Transforming Growth Factor-β Family, Is a Potent Activator of Granulosa Cells and Improves Oocyte Quality.
    8. The arginine residue in the pre-helix loop of GDF9 homodimer may prevent the inhibition from its pro-domain or directly alter receptor binding, but this residue in GDF9 does not significantly affect the heterodimer activity during heterodimer formation.
      Title: Amino acid 72 of mouse and human GDF9 mature domain is responsible for altered homodimer bioactivities but has subtle effects on GDF9:BMP15 heterodimer activities.
    9. modified oocyte glycoproteins alter GDF9:BMP15 expression modifying follicle development resulting in the generation of more follicles
      Title: Oocytes lacking O-glycans alter follicle development and increase fertility by increasing follicle FSH sensitivity, decreasing apoptosis, and modifying GDF9:BMP15 expression.
    10. A novel role for GDF9 in causing reproductive defects and suppressing tumor initiation in the Inha(-/-) mouse model.
      Title: GDF9 modulates the reproductive and tumor phenotype of female inha-null mice.
    Submit: New GeneRIF Correction See all GeneRIFs (39)

    Variation

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    Alleles

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

    Pathways from PubChem

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    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 growth factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of cell growth IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of cell growth IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within oocyte growth IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cell population proliferation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of progesterone secretion ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 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)

    1. NM_008110.2 → NP_032136.2  growth/differentiation factor 9 precursor

      See identical proteins and their annotated locations for NP_032136.2

      Status: REVIEWED

      Source sequence(s)
      AK136145, BC052667, CA559167
      Consensus CDS
      CCDS24679.1
      UniProtKB/Swiss-Prot
      Q07105
      UniProtKB/TrEMBL
      Q3UWR9, Q7TPZ4
      Related
      ENSMUSP00000018382.7, ENSMUST00000018382.7
      Conserved Domains (1) summary
      cd19403
      Location:336 → 441
      TGF_beta_GDF9; transforming growth factor beta (TGF-beta) like domain found in growth/differentiation factor 9 (GDF-9) and similar proteins

    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_000077.7 Reference GRCm39 C57BL/6J

      Range
      53321773..53328731
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006532220.5 → XP_006532283.1  growth/differentiation factor 9 isoform X2

      UniProtKB/TrEMBL
      Q7TPZ4
      Conserved Domains (1) summary
      cd19403
      Location:248 → 353
      TGF_beta_GDF9; transforming growth factor beta (TGF-beta) like domain found in growth/differentiation factor 9 (GDF-9) and similar proteins

    2. XM_030245570.2 → XP_030101430.1  growth/differentiation factor 9 isoform X1

      UniProtKB/Swiss-Prot
      Q07105
      UniProtKB/TrEMBL
      Q3UWR9, Q7TPZ4
      Conserved Domains (1) summary
      cd19403
      Location:336 → 441
      TGF_beta_GDF9; transforming growth factor beta (TGF-beta) like domain found in growth/differentiation factor 9 (GDF-9) and similar proteins

    3. XM_006532221.5 → XP_006532284.1  growth/differentiation factor 9 isoform X3

      Conserved Domains (1) summary
      cd19403
      Location:200 → 305
      TGF_beta_GDF9; transforming growth factor beta (TGF-beta) like domain found in growth/differentiation factor 9 (GDF-9) and similar proteins
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q07105.2 GenPept UniProtKB/Swiss-Prot:Q07105

    Gene LinkOut

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