GDF9

Gene Information
 
Gene Symbol
GDF9
 
Entrez Gene ID
 
Gene Name
Growth differentiation factor 9
 
Chromosomal Location
5q31.1
 
HGNC ID
 
Summary
Growth factors synthesized by ovarian somatic cells directly affect oocyte growth and function. Growth differentiation factor-9 (GDF9) is expressed in oocytes and is thought to be required for ovarian folliculogenesis. GDF9 is a member of the transforming growth factor-beta superfamily. (provided by RefSeq, Jul 2008)
 
GeneCards ID
 
UniGene
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0007179 Biological process Transforming growth factor beta receptor signaling pathway TAS 7760846
GO:0007292 Biological process Female gamete generation TAS 7760846
GO:0008284 Biological process Positive regulation of cell proliferation IDA 19366876
Protein Information
 
Protein Name
Growth/differentiation factor 9
 
Function
Required for ovarian folliculogenesis. Promotes primordial follicle development. Stimulates granulosa cell proliferation. Promotes cell transition from G0/G1 to S and G2/M phases, through an increase of CCND1 and CCNE1 expression, and RB1 phosphorylation. It regulates STAR expression and cAMP-dependent progesterone release in granulosa and thecal cells. Attenuates the suppressive effects of activin A on STAR expression and progesterone production by increasing the expression of inhibin B. It suppresses FST and FSTL3 production in granulosa-lutein cells
 
Refseq Proteins
 
UniProt
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00019 TGF_beta Transforming growth factor beta like domain
 
OMIM

Associated Diseases

Diseases References
Ovarian dysfunction 15509699
Polycystic ovary syndrome (PCOS) 20236105, 25172094, 11889206
   
References
 
Primary:

Abnormal expression of growth differentiation factor 9 and bone morphogenetic protein 15 in stimulated oocytes during maturation from women with polycystic ovary syndrome.

Wei Li-Na, Liang Xiao-Yan, Fang Cong, Zhang Min-Fang
Center for Reproductive Medicine, the Sixth Affiliated Hospital of Sun Yat-sen University, Guangzhou, People's Republic of China.
Fertil Steril. 2011 Aug;96(2):464-8. Epub 2011 Jun 12.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
 
 
NIH criteria 
Related 
24 (5 PCOS, 7 PCO, 12 controls) 
The expression of GDF-9 mRNA is delayed and reduced in PCOS and PCO oocytes during their growth and differentiation phase. Because oocyte-derived GDF-9 is crucial for normal folliculogenesis and female fertility, the study suggests that a dysregulation of oocyte GDF-9 expression may contribute to aberrant folliculogenesis in PCOS and PCO women 
BMP15, AMH, AMHR2 
 
 
NIH criteria 
Related 
335 PCOS cases, 198 controls 
Certain GDF9 variants were associated with hirsutism scores and parity in PCOS patients 
BMP15 
 
 
 
Direct 
28 women with PCOS, 26 controls 
The expression of these proteins is reduced and delayed in the early follicular stage in PCOS ovarian tissues, and these differences in expression may be associated with aberrant follicular development in patients with PCOS 

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
24391762, PMC3877038
Effects of upregulation of Hsp27 expression on oocyte development and maturation derived from polycystic ovary syndrome. 
In vitro 
23912750, PMC3824850
Inhibitory effects of controlled ovarian stimulation on the expression of GDF9 and BMP15 in oocytes from women with PCOS. 
In vitro 
23302121
[Change and significance of growth differentiation factor 9 and bone morphogenetic protein expression during oocyte maturation in polycystic ovary syndrome patients with ovarian stimulation]. 
Clinical study 
22825968, PMC3492567
Single-cell expression analysis of BMP15 and GDF9 in mature oocytes and BMPR2 in cumulus cells of women with polycystic ovary syndrome undergoing controlled ovarian hyperstimulation. 
In vitro 
22245531, PMC3292625
Developmental programming: prenatal testosterone excess disrupts anti-M??llerian hormone expression in preantral and antral follicles. 
In vitro 

 

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