GDF9: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

GDF9

Aliases

POF14

Entrez Gene ID

2661

Gene Name

Growth differentiation factor 9

Chromosomal Location

5q31.1

HGNC ID

HGNC:4224

Summary

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]

RefSeq DNA

NG_047051.1

RefSeq mRNA

NM_001288825.2, NM_005260.5, NM_001288824.2, NM_001288826.2, NM_001288827.2, NM_001288828.2

e!Ensembl

Gene	ENSG00000164404
Transcript	ENST00000378673, ENST00000624492, ENST00000624495, ENST00000621295, ENST00000296875
Protein	ENSP00000367942, ENSP00000485037, ENSP00000485231, ENSP00000484339, ENSP00000296875

Gene Ontology (GO)

Show/Hide all(14 )

GO ID	Ontology	Function	Evidence	Reference
GO:0007179	Biological process	Transforming growth factor beta receptor signaling pathway	TAS	7760846
GO:0007292	Biological process	Female gamete generation	TAS	7760846, 8849725
GO:0008284	Biological process	Positive regulation of cell proliferation	IDA	19366876
GO:0010862	Biological process	Positive regulation of pathway-restricted SMAD protein phosphorylation	IBA	21873635
GO:0030509	Biological process	BMP signaling pathway	IBA	21873635
GO:0042981	Biological process	Regulation of apoptotic process	IBA	21873635
GO:0043408	Biological process	Regulation of MAPK cascade	IBA	21873635
GO:0048468	Biological process	Cell development	IBA	21873635
GO:0060395	Biological process	SMAD protein signal transduction	IBA	21873635
GO:2000870	Biological process	Regulation of progesterone secretion	IDA	12050262
GO:2000870	Biological process	Regulation of progesterone secretion	IMP	20660033
GO:0005615	Cellular component	Extracellular space	IBA	21873635
GO:0005125	Molecular function	Cytokine activity	IBA	21873635
GO:0005160	Molecular function	Transforming growth factor beta receptor binding	IBA	21873635

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

NP_001275754.1, NP_005251.1, NP_001275753.1, NP_001275755.1, NP_001275756.1, NP_001275757.1

UniProt

O60383

Pfam

Pfam Accession	Pfam ID
PF00019	TGF_beta