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FLASH GENE
Symbol GDF9 contributors: mct/ - updated : 08-01-2007
HGNC name growth differentiation factor 9
HGNC id 4224
Location 5q31.1      Physical location : 132.196.877 - 132.200.477
Synonym symbol(s) GDF-9
DNA
TYPE functioning gene
STRUCTURE 3.60 kb     2 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
Physical map
FACL6 5q31 fatty-acid-Coenzyme A ligase, long-chain 6 IL3 5q31.1 interleukin 3 (colony-stimulating factor, multiple) CSF2 5q31.1 colony stimulating factor 2 (granulocyte-macrophage) LOC389325 5 LOC389325 P4HA2 5q31.1 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II RIL 5q31.1 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II SLC22A4 5q31.2 solute carrier family 22 (organic cation transporter), member 4 SLC22A5 5q31.1-q32 solute carrier family 22 (organic cation transporter), member 5 LOC389326 5 hypothetical gene supported by AK096941; AK128882 IRF1 5q31.1 interferon regulatory factor 1 IL5 5q31.1 interleukin 5 (colony-stimulating factor, eosinophil) RAD50 5q31 RAD50 homolog (S. cerevisiae) IL13 5q31.1 interleukin 13 IL4 5q31.1 interleukin 4 KIF3A 5q31 kinesin family member 3A SEPT8 5q31 kinesin family member 3A LOC134548 5q31.1 hypothetical protein LOC134548 APXL2 5q31.1 hypothetical protein LOC134548 GDF9 5q31.1 growth differentiation factor 9 QP-C 5q31.1 low molecular mass ubiquinone-binding protein (9.5kD) LEAP-2 5q31.1 liver-expressed antimicrobial peptide 2 AF5Q31 5q31 liver-expressed antimicrobial peptide 2 LOC389327 5 hypothetical gene supported by AK129671 LOC391832 5 similar to putative nucleic acid binding protein RY-1 FLJ20094 5q31.1 hypothetical protein FLJ20094 HSPA4 5q31.1-q32 heat shock 70kDa protein 4 KIAA1061 5q31.1 KIAA1061 protein
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
2 - 2020 - 454 - -
EXPRESSION
Type
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrineadrenal gland    
Reproductivefemale systemovary   
 male systemtestis   
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
    text secreted
    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)
  • CELLULAR PROCESS cell life, differentiation
    PHYSIOLOGICAL PROCESS reproduction/sex
    text fertilization and female reproduction
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    activated by cleaved by subtilisin-like convertases
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to POF (premature ovarian failure)
    Variant & Polymorphism other mutations minor cause of ovarian insufficiency and POF
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS