GDF9 (growth differentiation factor 9)

Gene

• Entrez ID: 2661
• Gene name: Growth differentiation factor 9
• Gene symbol: GDF9
• Synonyms: POF14
• Chromosome: 5
• Chromosome location: 5q31.1
• 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1216260561	G>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017790	hsa-miR-335-5p	Microarray	18185580
MIRT019338	hsa-miR-148b-3p	Microarray	17612493
MIRT1015749	hsa-miR-124	CLIP-seq
MIRT1015750	hsa-miR-1244	CLIP-seq
MIRT1015751	hsa-miR-199a-3p	CLIP-seq
MIRT1015752	hsa-miR-199b-3p	CLIP-seq
MIRT1015753	hsa-miR-3129-5p	CLIP-seq
MIRT1015754	hsa-miR-3622a-5p	CLIP-seq
MIRT1015755	hsa-miR-4423-3p	CLIP-seq
MIRT1015756	hsa-miR-4432	CLIP-seq
MIRT1015757	hsa-miR-4789-3p	CLIP-seq
MIRT1015758	hsa-miR-499-5p	CLIP-seq
MIRT1015759	hsa-miR-506	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001555	Process	Oocyte growth	IEA
GO:0005125	Function	Cytokine activity	IBA	21873635
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005737	Component	Cytoplasm	IEA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	TAS	7760846
GO:0007292	Process	Female gamete generation	TAS	7760846, 8849725
GO:0008083	Function	Growth factor activity	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	19366876
GO:0010862	Process	Positive regulation of pathway-restricted SMAD protein phosphorylation	IBA	21873635
GO:0030308	Process	Negative regulation of cell growth	IEA
GO:0030509	Process	BMP signaling pathway	IBA	21873635
GO:0060395	Process	SMAD protein signal transduction	IBA	21873635
GO:0070698	Function	Type I activin receptor binding	IBA	21873635
GO:2000870	Process	Regulation of progesterone secretion	IDA	12050262
GO:2000870	Process	Regulation of progesterone secretion	IMP	20660033

Other IDs

• MIM: 601918
• HGNC: 4224
• e!Ensembl: ENSG00000164404

Protein

• UniProt ID: O60383
• Protein name: Growth/differentiation factor 9 (GDF-9)
• Protein 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 phosph
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00019	TGF_beta	352 → 453	Transforming growth factor beta like domain	Domain

• Sequence:

  MARPNKFLLWFCCFAWLCFPISLGSQASGGEAQIAASAELESGAMPWSLLQHIDERDRAG
  LLPALFKVLSVGRGGSPRLQPDSRALHYMKKLYKTYATKEGIPKSNRSHLYNTVRLFTPC
  TRHKQAPGDQVTGILPSVELLFNLDRITTVEHLLKSVLLYNINNSVSFSSAVKCVCNLMI
  KEPKSSSRTLGRAPYSFTFNSQFEFGKKHKWIQIDVTSLLQPLVASNKRSIHMSINFTCM
  KDQLEHPSAQNGLFNMTLVSPSLILYLNDTSAQAYHSWYSLHYKRRPSQGPDQERSLSAY
  PVGEEAAEDGRSSHHRHRRGQETVSSELKKPLGPASFNLSEYFRQFLLPQNECELHDFRL
  SFSQLKWDNWIVAPHRYNPRYCKGDCPRAVGHRYGSPVHTMVQNIIYEKLDSSVPRPSCV
  PAKYSPLSVLTIEPDGSIAYKEYEDMIATKCTCR

• Sequence length: 454

Pathways

KEGG:

Cytokine-cytokine receptor interaction

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Premature ovarian failure	PREMATURE OVARIAN FAILURE 14	rs587776535, rs71647804, rs137853320, rs606231206, rs121918655, rs121918656, rs606231207, rs606231208, rs80359775, rs397507719, rs200503569, rs587777267, rs730880018, rs587777268, rs587777269, rs587777270, rs201840174, rs587778428, rs41293513, rs200928781, rs587777871, rs587777872, rs606231343, rs672601359, rs193303102, rs193303103, rs193303104, rs138761187, rs869320753, rs869320765, rs878854403, rs875989810, rs875989885, rs876657679, rs1057517779, rs764841861, rs1057519602, rs147021911, rs1060505055, rs376787666, rs1554721235, rs1553752779, rs1553752894, rs144567652, rs1216260561, rs900140738, rs1560311010, rs1060502376, rs1001164504, rs1031011371, rs1596591051, rs1218620893, rs201115244, rs377712900, rs1800917478	19438907, 17156781, 16645022, 16278619, 29044499, 16954162, 17482612

Unknown
Disease name	Disease term	dbSNP ID	References
Sclerocystic ovaries	Sclerocystic Ovaries		22825968
Ovarian failure	Ovarian Failure, Premature, NON RARE IN EUROPE: Primary ovarian failure		17156781
Physiologic amenorrhea	Primary physiologic amenorrhea
Polycystic ovary syndrome	Polycystic Ovary Syndrome		22825968