Gdf9 growth differentiation factor 9 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gdf9provided by MGI
Official Full Name: growth differentiation factor 9provided by MGI
Primary source: MGI:MGI:95692
See related: Ensembl:ENSMUSG00000018238 AllianceGenome:MGI:95692
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gdf-9
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. Female mice that are homozygous null for this gene are sterile with impaired folliculogenesis. [provided by RefSeq, Jul 2016]
Expression: Biased expression in ovary adult (RPKM 37.3) and testis adult (RPKM 3.0) See more
Orthologs: human all
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Genomic context

Location:: 11 B1.3; 11 31.94 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (53321773..53328731)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (53430774..53437904)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Effect of cumulin and super-GDF9 in standard and biphasic mouse IVM.
Title: Effect of cumulin and super-GDF9 in standard and biphasic mouse IVM.
Abnormal early folliculogenesis due to impeded pyruvate metabolism in mouse oocytesdagger.
Title: Abnormal early folliculogenesis due to impeded pyruvate metabolism in mouse oocytes†.
Activation-induced cytidine deaminase is a possible regulator of cross-talk between oocytes and granulosa cells through GDF-9 and SCF feedback system.
Title: Activation-induced cytidine deaminase is a possible regulator of cross-talk between oocytes and granulosa cells through GDF-9 and SCF feedback system.
GDF9 + BMP15, but not separately, significantly induce AMH expression in vitro and in vivo. GDF9 + BMP15, through the PI3K/Akt and Smad2/3 pathways synergistically recruit the coactivator p300 on the AMH promoter region that promotes acetylation of H3K27ac, facilitating AMH expression.
Title: Oocyte-Derived Factors (GDF9 and BMP15) and FSH Regulate AMH Expression Via Modulation of H3K27AC in Granulosa Cells.
Data show that Rac1 induced nuclear import of STAT3 by physical binding, and nuclear STAT3 directly activated the transcription of essential oocyte-specific genes, including Jagged1, GDF9 and BMP15.
Title: Rac1 modulates the formation of primordial follicles by facilitating STAT3-directed Jagged1, GDF9 and BMP15 transcription in mice.
In organogenesis of the ovary, production of Dhh/Ihh in granulosa cells requires growth differentiation factor 9 from the oocyte.
Title: Lineage specification of ovarian theca cells requires multicellular interactions via oocyte and granulosa cells.
results support a model of activation for human GDF9 dependent on cumulin formation through heterodimerization with BMP15. Oocyte-secreted cumulin is likely to be a central regulator of fertility in mono-ovular mammals.
Title: Cumulin, an Oocyte-secreted Heterodimer of the Transforming Growth Factor-β Family, Is a Potent Activator of Granulosa Cells and Improves Oocyte Quality.
The arginine residue in the pre-helix loop of GDF9 homodimer may prevent the inhibition from its pro-domain or directly alter receptor binding, but this residue in GDF9 does not significantly affect the heterodimer activity during heterodimer formation.
Title: Amino acid 72 of mouse and human GDF9 mature domain is responsible for altered homodimer bioactivities but has subtle effects on GDF9:BMP15 heterodimer activities.
modified oocyte glycoproteins alter GDF9:BMP15 expression modifying follicle development resulting in the generation of more follicles
Title: Oocytes lacking O-glycans alter follicle development and increase fertility by increasing follicle FSH sensitivity, decreasing apoptosis, and modifying GDF9:BMP15 expression.
A novel role for GDF9 in causing reproductive defects and suppressing tumor initiation in the Inha(-/-) mouse model.
Title: GDF9 modulates the reproductive and tumor phenotype of female inha-null mice.

Submit: New GeneRIF Correction See all GeneRIFs (39)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1)
Targeted (1) 1 citation
Endonuclease-mediated (3) 1 citation

General gene information

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Markers

Gdf9 (e-PCR), detects polymorphism
- UniSTS:496662

NoName (e-PCR)
- UniSTS:236572

Gdf9 (e-PCR), detects polymorphism
- UniSTS:525710

L06444 (e-PCR)
- UniSTS:124865

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables cytokine activity	IBA Inferred from Biological aspect of Ancestor more info
enables growth factor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of cell growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of cell growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within oocyte growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in regulation of progesterone secretion	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: growth/differentiation factor 9

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_008110.2 → NP_032136.2 growth/differentiation factor 9 precursor

See identical proteins and their annotated locations for NP_032136.2

Status: REVIEWED

Source sequence(s)

AK136145, BC052667, CA559167

Consensus CDS

CCDS24679.1

UniProtKB/Swiss-Prot

Q07105

UniProtKB/TrEMBL

Q3UWR9, Q7TPZ4

Related

ENSMUSP00000018382.7, ENSMUST00000018382.7

Conserved Domains (1) summary

cd19403
Location:336 → 441

TGF_beta_GDF9; transforming growth factor beta (TGF-beta) like domain found in growth/differentiation factor 9 (GDF-9) and similar proteins

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

53321773..53328731

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006532220.5 → XP_006532283.1 growth/differentiation factor 9 isoform X2

UniProtKB/TrEMBL

Q7TPZ4

Conserved Domains (1) summary

cd19403
Location:248 → 353

TGF_beta_GDF9; transforming growth factor beta (TGF-beta) like domain found in growth/differentiation factor 9 (GDF-9) and similar proteins
XM_030245570.2 → XP_030101430.1 growth/differentiation factor 9 isoform X1

UniProtKB/Swiss-Prot

Q07105

UniProtKB/TrEMBL

Q3UWR9, Q7TPZ4

Conserved Domains (1) summary

cd19403
Location:336 → 441

TGF_beta_GDF9; transforming growth factor beta (TGF-beta) like domain found in growth/differentiation factor 9 (GDF-9) and similar proteins
XM_006532221.5 → XP_006532284.1 growth/differentiation factor 9 isoform X3

Conserved Domains (1) summary

cd19403
Location:200 → 305

TGF_beta_GDF9; transforming growth factor beta (TGF-beta) like domain found in growth/differentiation factor 9 (GDF-9) and similar proteins