• Gene id: 2661

Gene Summary

• Gene Symbol: GDF9   Gene   UCSC   Ensembl
• Gene name: growth differentiation factor 9
• Alternate names: growth/differentiation factor 9,
• Gene location: 5q31.1 (202376309: 202567750)     Exons: 13     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 601918

Protein Summary

• Protein general information: O60383  
  • Name: Growth/differentiation factor 9 (GDF 9)
  • Length: 454  
  • Mass: 51,444
• Sequence:

  MARPNKFLLWFCCFAWLCFPISLGSQASGGEAQIAASAELESGAMPWSLLQHIDERDRAGLLPALFKVLSVGRGG
  SPRLQPDSRALHYMKKLYKTYATKEGIPKSNRSHLYNTVRLFTPCTRHKQAPGDQVTGILPSVELLFNLDRITTV
  EHLLKSVLLYNINNSVSFSSAVKCVCNLMIKEPKSSSRTLGRAPYSFTFNSQFEFGKKHKWIQIDVTSLLQPLVA
  SNKRSIHMSINFTCMKDQLEHPSAQNGLFNMTLVSPSLILYLNDTSAQAYHSWYSLHYKRRPSQGPDQERSLSAY
  PVGEEAAEDGRSSHHRHRRGQETVSSELKKPLGPASFNLSEYFRQFLLPQNECELHDFRLSFSQLKWDNWIVAPH
  RYNPRYCKGDCPRAVGHRYGSPVHTMVQNIIYEKLDSSVPRPSCVPAKYSPLSVLTIEPDGSIAYKEYEDMIATK
  CTCR

• Structural information:
  • Interpro: IPR029034  IPR015617  IPR001839  IPR015615  IPR017948  
  • Prosite: PS00250 PS51362
  • STRING: ENSP00000296875
• Other Databases: GeneCards:  GDF9  Malacards:  GDF9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001555	oocyte growth	IEA	biological process
GO:0005125	cytokine activity	IBA	molecular function
GO:0005160	transforming growth factor beta receptor binding	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007179	transforming growth factor beta receptor signaling pathway	TAS	biological process
GO:0007292	female gamete generation	TAS	biological process
GO:0007292	female gamete generation	TAS	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0008284	positive regulation of cell proliferation	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IBA	biological process
GO:0030308	negative regulation of cell growth	IEA	biological process
GO:0030509	BMP signaling pathway	IBA	biological process
GO:0042981	regulation of apoptotic process	IBA	biological process
GO:0043408	regulation of MAPK cascade	IBA	biological process
GO:0048468	cell development	IBA	biological process
GO:0060395	SMAD protein signal transduction	IBA	biological process
GO:2000870	regulation of progesterone secretion	IDA	biological process
GO:2000870	regulation of progesterone secretion	IMP	biological process
GO:0001555	oocyte growth	IEA	biological process
GO:0005125	cytokine activity	IBA	molecular function
GO:0005125	cytokine activity	IEA	molecular function
GO:0005160	transforming growth factor beta receptor binding	IBA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005615	extracellular space	IBA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007179	transforming growth factor beta receptor signaling pathway	TAS	biological process
GO:0007292	female gamete generation	TAS	biological process
GO:0007292	female gamete generation	TAS	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0008083	growth factor activity	IEA	molecular function
GO:0008083	growth factor activity	TAS	molecular function
GO:0008284	positive regulation of cell proliferation	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IBA	biological process
GO:0030308	negative regulation of cell growth	IEA	biological process
GO:0030509	BMP signaling pathway	IBA	biological process
GO:0042981	regulation of apoptotic process	IBA	biological process
GO:0043408	regulation of MAPK cascade	IBA	biological process
GO:0048468	cell development	IBA	biological process
GO:0060395	SMAD protein signal transduction	IBA	biological process
GO:2000870	regulation of progesterone secretion	IDA	biological process
GO:2000870	regulation of progesterone secretion	IMP	biological process
GO:0005125	cytokine activity	IBA	molecular function
GO:0005160	transforming growth factor beta receptor binding	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0007179	transforming growth factor beta receptor signaling pathway	TAS	biological process
GO:0007292	female gamete generation	TAS	biological process
GO:0007292	female gamete generation	TAS	biological process
GO:0008083	growth factor activity	TAS	molecular function
GO:0008284	positive regulation of cell proliferation	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IBA	biological process
GO:0030509	BMP signaling pathway	IBA	biological process
GO:0042981	regulation of apoptotic process	IBA	biological process
GO:0043408	regulation of MAPK cascade	IBA	biological process
GO:0048468	cell development	IBA	biological process
GO:0060395	SMAD protein signal transduction	IBA	biological process
GO:2000870	regulation of progesterone secretion	IDA	biological process
GO:2000870	regulation of progesterone secretion	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04060	Cytokine-cytokine receptor interaction

Diseases

Associated diseases	References
Obesity	GAD: 20734064
Secondary amennorhea	GAD: 16278619
Premature ovarian insufficiency (POI)	INFBASE: 24939957
Primary amenorrhea	INFBASE: 16278619
Diminished ovarian reserve (DOR)	INFBASE: 23851219
Female infertility	INFBASE: 23851219
Endometriosis	INFBASE: 19931079
Ovarian function	INFBASE: 21226076
Premature ovarian failure (POF)	INFBASE: 19438907
XX gonadal dysgenesis	INFBASE: 17826728
Oocyte maturation	MIK: 25139161
Polycystic ovary syndrome (PCOS)	MIK: 22825968
Impaired oocyte quality	INFBASE: 21669410
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Male factor infertility	MIK: 29961538
Oocyte maturation	MIK: 25139161
Fertilization	MIK: 25139161
Embryo quality	MIK: 25139161
Pregnancy outcome	MIK: 25139161
Polycystic ovary syndrome (PCOS)	MIK: 22825968

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
22825968	PCOS		PCOS un dergoin g COH	53 (18 patients with PCOS, 35 controls)	Male infertility	BMPR2 BMP15 and GDF9
25139161	Oocyte maturation, fertilization, embryo quality, and pregnancy outcome			196 female patients who underwent intracytoplasmic sperm injection (ICSI)	Male infertility	GDF9 BMP15
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq