GDF9 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | GDF9 |
| Official Name | growth differentiation factor 9 [Source:HGNC Symbol;Acc:HGNC:4224] |
| Ensembl ID | ENSG00000164404 |
| Bio databases IDs | |
| Aliases | growth differentiation factor 9 |
| Synonyms | growth differentiation factor 9, POF14 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GDF9 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- TGF_beta_SF
- Transforming growth factor beta like domain
- growth factor
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- polycystic ovary syndrome
- Alzheimer disease
- premature ovarian failure type 14
- familial premature ovarian failure
- ovarian neoplasia
- wasting syndrome
role in cell
- migration
- expression in
- proliferation
- growth
- quantity
- signaling in
- phosphorylation in
- production in
- cell death
- function
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- Cytoplasm
- cumulus oocyte complex connections
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GDF9 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- female gamete generation
- oocyte growth
- negative regulation of cell growth
- positive regulation of cell proliferation
- transforming growth factor beta receptor signaling pathway
- regulation of progesterone secretion
Cellular Component
Where in the cell the gene product is active
- extracellular space
- cytoplasm
Molecular Function
What the gene product does at the molecular level
- growth factor activity
- cytokine activity