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Gene id

2661

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

GDF9 Gene UCSC Ensembl

Gene name

growth differentiation factor 9

Alternate names

growth/differentiation factor 9,

Gene location

5q31.1 (132866883: 132861180) Exons: 6 NC_000005.10

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 gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates ovarian function. Reduced expression of this gene may be associated with polycystic ovary syndrome and mutations in this gene may be more common in mothers of dizygotic twins. [provided by RefSeq, Jul 2016]

OMIM

601918

Protein Summary

Protein general information

O60383

Name: Growth/differentiation factor 9 (GDF 9)

Length: 454 Mass: 51,444

Tissue specificity: Expressed in ovarian granulosa cells. Present in oocytes of primary follicles (at protein level). {ECO

Sequence

MARPNKFLLWFCCFAWLCFPISLGSQASGGEAQIAASAELESGAMPWSLLQHIDERDRAGLLPALFKVLSVGRGG
SPRLQPDSRALHYMKKLYKTYATKEGIPKSNRSHLYNTVRLFTPCTRHKQAPGDQVTGILPSVELLFNLDRITTV
EHLLKSVLLYNINNSVSFSSAVKCVCNLMIKEPKSSSRTLGRAPYSFTFNSQFEFGKKHKWIQIDVTSLLQPLVA
SNKRSIHMSINFTCMKDQLEHPSAQNGLFNMTLVSPSLILYLNDTSAQAYHSWYSLHYKRRPSQGPDQERSLSAY
PVGEEAAEDGRSSHHRHRRGQETVSSELKKPLGPASFNLSEYFRQFLLPQNECELHDFRLSFSQLKWDNWIVAPH
RYNPRYCKGDCPRAVGHRYGSPVHTMVQNIIYEKLDSSVPRPSCVPAKYSPLSVLTIEPDGSIAYKEYEDMIATK
CTCR

Structural information

Interpro:	IPR029034 IPR015617 IPR001839 IPR015615 IPR017948
Prosite:	PS00250 PS51362
Pfam:	PF00019
MINT:	1430245
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 facto r beta receptor binding	IBA	molecular_function
GO:0005615	extracellular space	IBA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0007179	transforming growth facto r 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 ce ll proliferation	IDA	biological_process
GO:0010862	positive regulation of pa thway-restricted SMAD pro tein phosphorylation	IBA	biological_process
GO:0030308	negative regulation of ce ll growth	IEA	biological_process
GO:0030509	BMP signaling pathway	IBA	biological_process
GO:0042981	regulation of apoptotic p rocess	IBA	biological_process
GO:0043408	regulation of MAPK cascad e	IBA	biological_process
GO:0048468	cell development	IBA	biological_process
GO:0060395	SMAD protein signal trans duction	IBA	biological_process
GO:2000870	regulation of progesteron e secretion	IDA	biological_process
GO:2000870	regulation of progesteron e 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 facto r 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 facto r 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 ce ll proliferation	IDA	biological_process
GO:0010862	positive regulation of pa thway-restricted SMAD pro tein phosphorylation	IBA	biological_process
GO:0030308	negative regulation of ce ll growth	IEA	biological_process
GO:0030509	BMP signaling pathway	IBA	biological_process
GO:0042981	regulation of apoptotic p rocess	IBA	biological_process
GO:0043408	regulation of MAPK cascad e	IBA	biological_process
GO:0048468	cell development	IBA	biological_process
GO:0060395	SMAD protein signal trans duction	IBA	biological_process
GO:2000870	regulation of progesteron e secretion	IDA	biological_process
GO:2000870	regulation of progesteron e secretion	IMP	biological_process
GO:0005125	cytokine activity	IBA	molecular_function
GO:0005160	transforming growth facto r beta receptor binding	IBA	molecular_function
GO:0005615	extracellular space	IBA	cellular_component
GO:0007179	transforming growth facto r 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 ce ll proliferation	IDA	biological_process
GO:0010862	positive regulation of pa thway-restricted SMAD pro tein phosphorylation	IBA	biological_process
GO:0030509	BMP signaling pathway	IBA	biological_process
GO:0042981	regulation of apoptotic p rocess	IBA	biological_process
GO:0043408	regulation of MAPK cascad e	IBA	biological_process
GO:0048468	cell development	IBA	biological_process
GO:0060395	SMAD protein signal trans duction	IBA	biological_process
GO:2000870	regulation of progesteron e secretion	IDA	biological_process
GO:2000870	regulation of progesteron e secretion	IMP	biological_process

KEGG pathways

hsa04913 Ovarian steroidogenesis

Diseases

Associated diseases	References
Diminished ovarian reserve (DOR)	PMID: 27035733
Endometriosis	PMID: 19931079
Hyperandrogenism	PMID: 28860512
Oocyte maturation	PMID: 25139161
Ovarian function	PMID: 21226076
Polycystic ovary syndrome (PCOS)	PMID: 20236105
Premature ovarian failure ( POF)	PMID: 19438907
Primary ovarian insufficiency (POI)	PMID: 24939957
Endometriosis	INFBASE19931079

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
19931079	Endometrio sis				Female infertility	GDF-9	Show abstract