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FLASH GENE
Symbol GDF9 contributors: mct/ - updated : 02-04-2021
HGNC name growth differentiation factor 9
HGNC id 4224
DNA
TYPE functioning gene
STRUCTURE 5.47 kb     2 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
2 - 2020 - 454 - 2018 30060157
4 - 1718 - 366 - 2018 30060157
3 - 1589 - 366 - 2018 30060157
4 - 1705 - 366 - 2018 30060157
4 - 1798 - 366 - 2018 30060157
4 - 1795 - 366 - 2018 30060157
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrineadrenal gland    
Reproductivefemale systemovary    Homo sapiens
 male systemtestis   
cells
SystemCellPubmedSpeciesStageRna symbol
Reproductiveoocyte Homo sapiens
cell lineage in oocytes at the type 3a primary follicle stage)
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • C terminal region of homology with TGFB
  • mono polymer homomer , dimer
    isoforms Precursor cleaved at a consensus Arg-X-XArg to yield a C terminus mature dimer
    HOMOLOGY
    interspecies homolog to ratus Gdf9
    Homologene
    FAMILY
  • TGF-beta family
  • CATEGORY secretory , signaling growth factor
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm
    text
  • secreted
  • GDF9 is transiently expressed in oocytes before follicle formation in the human fetal ovary
  • basic FUNCTION
  • involved in normal ovulation
  • oocyte secreted paracrine factor essential for mammalian ovarian folliculogenesis (Mottershead 2008)
  • may have a role in fertility (Mottershead 2008)
  • GDF9 and BMP15 are likely germ cell-specific factors in the testis, and GDF9 can modulate key Sertoli cell functions
  • may have functions in human preantral follicles
  • play likely roles in corpus luteum activity
  • crucial role of GDF9 and BMP15 in female fertility
  • BMP15 and GDF9 promoted activation of human primordial follicles from girls/women in a dose-dependent manner, but GDF9 seems more beneficial
  • GDF9 and bone morphogenetic protein 15 (BMP15) are two proteins selectively expressed in the oocyte which are essential for normal fertility
  • controls granulosa cell growth and differentiation during early ovarian folliculogenesis and regulates cumulus cell function and ovulation rate in the later stages of this process
  • GDF9 and bone morphogenetic protein 15 (BMP15) act synergistically to regulate granulosa cell proliferation and steroid production
  • GDF9 and BMP15 act synergistically to stimulate granulosa cell proliferation, a response that also involves species-specific non-SMAD signalling pathways
  • CELLULAR PROCESS cell life, differentiation
    PHYSIOLOGICAL PROCESS reproduction/sex
    text fertilization and female reproduction
    PATHWAY
    metabolism
    signaling
    a component GDF9:BMP15 heterodimers are potent regulators of ovarian functions
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • GDF9 enhances cell response to activin A by modulating key components of the activin signaling pathway in regulating inhibin subunits and hence inhibin B production in human granulosa-lutein cells
  • GDF9 decreases basal and activin A-induced FST and FSTL3 expression
  • GDF9/BMP15 synergistic interactions were specific such that neither factor could be replaced by an analogous TGFB superfamily member
  • NOBOX regulates the expression of GDF9
  • mutation in BMP15 associated with Primary Ovarian Insufficiency reduce mature protein production, activity, or synergy with GDF9
  • GDF9 and BMP15 and FSH Regulate AMH expression via modulation of H3K27AC in granulosa cells
  • cell & other
    REGULATION
    activated by cleaved by subtilisin-like convertases
    ASSOCIATED DISORDERS
    corresponding disease(s) POF14
    Susceptibility
  • to POF (premature ovarian failure)
  • to diminished ovarian reserve (DOR) in young women
  • Variant & Polymorphism other
  • mutations minor cause of ovarian insufficiency and POF
  • GDF9 p.R146C mutation may be a source of DOR in some young women
  • Candidate gene
    Marker
  • GDF9 and BMP15 mRNAs in cumulus granulosa cells may be considered as new molecular markers for predicting oocyte developmental potential
  • Therapy target
    ANIMAL & CELL MODELS