GDF9 (growth differentiation factor 9)

Gene

• Entrez ID: 2661
• Gene name: Growth differentiation factor 9
• Gene symbol: GDF9
• Synonyms (NCBI Gene): 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
GO:0005125	Function	Cytokine activity	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0007178	Process	Cell surface receptor protein serine/threonine kinase signaling pathway	IBA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	TAS	7760846
GO:0007292	Process	Female gamete generation	IEA
GO:0007292	Process	Female gamete generation	TAS	7760846, 8849725
GO:0008083	Function	Growth factor activity	IEA
GO:0008083	Function	Growth factor activity	TAS	8849725
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	19366876
GO:0030308	Process	Negative regulation of cell growth	IEA
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

• Tissue specificity: TISSUE SPECIFICITY: Expressed in ovarian granulosa cells. Present in oocytes of primary follicles (at protein level). {ECO:0000269|PubMed:10443672, ECO:0000269|PubMed:12050262}.
• Sequence:

  MARPNKFLLWFCCFAWLCFPISLGSQASGGEAQIAASAELESGAMPWSLLQHIDERDRAG
  LLPALFKVLSVGRGGSPRLQPDSRALHYMKKLYKTYATKEGIPKSNRSHLYNTVRLFTPC
  TRHKQAPGDQVTGILPSVELLFNLDRITTVEHLLKSVLLYNINNSVSFSSAVKCVCNLMI
  KEPKSSSRTLGRAPYSFTFNSQFEFGKKHKWIQIDVTSLLQPLVASNKRSIHMSINFTCM
  KDQLEHPSAQNGLFNMTLVSPSLILYLNDTSAQAYHSWYSLHYKRRPSQGPDQERSLSAY
  PVGEEAAEDGRSSHHRHRRGQETVSSELKKPLGPASFNLSEYFRQFLLPQNECELHDFRL
  SFSQLKWDNWIVAPHRYNPRYCKGDCPRAVGHRYGSPVHTMVQNIIYEKLDSSVPRPSCV
  PAKYSPLSVLTIEPDGSIAYKEYEDMIATKCTCR

• Sequence length: 454

Pathways

KEGG:

Cytokine-cytokine receptor interaction

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Genetic non-acquired premature ovarian failure	Likely pathogenic	rs751894227	RCV001661766
Premature ovarian failure 14	Likely pathogenic; Pathogenic	rs2150042519, rs2532351267, rs373477788, rs745755437, rs1216260561	RCV001729991 RCV003991742 RCV004595815 RCV004595816 RCV000656489

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
GDF9-related disorder	Benign; Likely benign; Uncertain significance	rs254286, rs138136756, rs10491279, rs370586524, rs140742945	RCV003980797 RCV003910944 RCV003975108 RCV003941787 RCV003949130
Premature ovarian failure	Uncertain significance	rs1581252159	RCV000787459

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	23011157
Breast Neoplasms	Associate	35436939
Calcinosis Cutis	Associate	35436939
Carcinogenesis	Associate	23011157
Endometriosis	Associate	28831646
Hirsutism	Associate	20236105
Hyperplasia	Associate	23011157
Lymphatic Metastasis	Inhibit	23011157
Ovarian Diseases	Associate	20451184
Ovarian Neoplasms	Associate	33036707, 38358476
Polycystic Ovary Syndrome	Associate	19376510, 20236105, 21669410, 22825968, 23912750, 31287539
Polycystic Ovary Syndrome	Inhibit	25172094
Primary Ovarian Insufficiency	Associate	17027369, 17156781, 17482612, 18614612, 24939957, 25954833, 29044499, 29916099, 31151408, 31392662, 33036707, 33538981, 33797006