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 homo... See more...

Aliases for GDF9 Gene

Aliases for GDF9 Gene

  • Growth Differentiation Factor 9 2 3 5
  • Growth/Differentiation Factor 9 3 4
  • POF14 3
  • GDF-9 4
  • GDF9 5

External Ids for GDF9 Gene

Previous GeneCards Identifiers for GDF9 Gene

  • GC05M131719
  • GC05M132644
  • GC05M132228
  • GC05M132273
  • GC05M132225
  • GC05M132224
  • GC05M132196
  • GC05M127389

Summaries for GDF9 Gene

Entrez Gene Summary for GDF9 Gene

  • 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]

GeneCards Summary for GDF9 Gene

GDF9 (Growth Differentiation Factor 9) is a Protein Coding gene. Diseases associated with GDF9 include Premature Ovarian Failure 14 and Ovarian Disease. Among its related pathways are NF-KappaB Family Pathway and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include cytokine activity and transforming growth factor beta receptor binding. An important paralog of this gene is BMP15.

UniProtKB/Swiss-Prot Summary for GDF9 Gene

  • 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.

Gene Wiki entry for GDF9 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GDF9 Gene

Genomics for GDF9 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GDF9 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GDF9 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GDF9

Top Transcription factor binding sites by QIAGEN in the GDF9 gene promoter:
  • ARP-1
  • Brachyury
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Nkx2-5
  • YY1

Genomic Locations for GDF9 Gene

Genomic Locations for GDF9 Gene
chr5:132,861,181-132,866,884
(GRCh38/hg38)
Size:
5,704 bases
Orientation:
Minus strand
chr5:132,196,873-132,202,576
(GRCh37/hg19)
Size:
5,704 bases
Orientation:
Minus strand

Genomic View for GDF9 Gene

Genes around GDF9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GDF9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GDF9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GDF9 Gene

Proteins for GDF9 Gene

  • Protein details for GDF9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60383-GDF9_HUMAN
    Recommended name:
    Growth/differentiation factor 9
    Protein Accession:
    O60383
    Secondary Accessions:
    • Q4VAW5

    Protein attributes for GDF9 Gene

    Size:
    454 amino acids
    Molecular mass:
    51444 Da
    Quaternary structure:
    • Homodimer or heterodimer (Potential). But, in contrast to other members of this family, cannot be disulfide-linked (By similarity).
    Miscellaneous:
    • Ovarian physiology and fertility are controlled by endocrine and paracrine signals. These act in a species-dependent manner and determine the ovulation quota in different mammalian species. While humans, and mammals such as the cow or red deer, normally ovulate only one egg per cycle, other mammals such as mouse and pig can ovulate in excess of ten per cycle. The mechanisms that regulate the species-specific differences in the number of follicles that go onto ovulate during each reproductive cycle are poorly understood. According to PubMed:21970812, mRNA expression levels of GDF9 and BMP15 are tightly coregulated within each species and influence species-specific ovulation-rates.

neXtProt entry for GDF9 Gene

Post-translational modifications for GDF9 Gene

  • Phosphorylated; phosphorylation is critical for GDF9 function. In vitro, can be phosphorylated by CK at Ser-325.
  • Glycosylation at Asn106, Asn163, Asn236, Asn255, Asn268, and Asn338
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GDF9 Gene

Domains & Families for GDF9 Gene

Gene Families for GDF9 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for GDF9 Gene

InterPro:
Blocks:
  • Transforming growth factor beta (TGFb)
  • Inhibin alpha chain signature
ProtoNet:

Suggested Antigen Peptide Sequences for GDF9 Gene

GenScript: Design optimal peptide antigens:
  • Growth/differentiation factor 9 (GDF9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O60383

UniProtKB/Swiss-Prot:

GDF9_HUMAN :
  • Belongs to the TGF-beta family.
Family:
  • Belongs to the TGF-beta family.
genes like me logo Genes that share domains with GDF9: view

Function for GDF9 Gene

Molecular function for GDF9 Gene

UniProtKB/Swiss-Prot 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.
GENATLAS Biochemistry:
growth/differentiation factor 9,secreted member of TGFB superfamily,expressed only in ovary (in oocyte at the type 3a primary follicle stage),involved in normal ovulation,fertilization and female reproduction

LifeMap Function Summary for GDF9 Gene

It affects the following cells:

Phenotypes From GWAS Catalog for GDF9 Gene

Gene Ontology (GO) - Molecular Function for GDF9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005125 cytokine activity IBA 21873635
GO:0008083 growth factor activity IEA --
GO:0070698 type I activin receptor binding IBA 21873635
genes like me logo Genes that share ontologies with GDF9: view
genes like me logo Genes that share phenotypes with GDF9: view

Human Phenotype Ontology for GDF9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GDF9 Gene

MGI Knock Outs for GDF9:

Animal Model Products

  • Taconic Biosciences Mouse Models for GDF9

CRISPR Products

miRNA for GDF9 Gene

miRTarBase miRNAs that target GDF9

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GDF9

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GDF9 Gene

Localization for GDF9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GDF9 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GDF9 gene
Compartment Confidence
extracellular 4
plasma membrane 2
cytoskeleton 2
mitochondrion 2
nucleus 2
golgi apparatus 2
endoplasmic reticulum 1
cytosol 1
lysosome 0

Gene Ontology (GO) - Cellular Components for GDF9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA 21873635
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with GDF9: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GDF9 Gene

Pathways & Interactions for GDF9 Gene

PathCards logo

SuperPathways for GDF9 Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
.85
.85
.84
.84
.74
.72
.66
.65
.64
.62
.61
.60
.57
.57
2 GPCR Pathway
.73
.73
.62
.59
.58
.58
.55
3 ERK Signaling
.61
.61
.58
.51
.49
4 Nanog in Mammalian ESC Pluripotency
.62
.62
.59
.48
5 CREB Pathway
.68
.68
.63
.50
genes like me logo Genes that share pathways with GDF9: view

Pathways by source for GDF9 Gene

1 BioSystems pathway for GDF9 Gene
1 KEGG pathway for GDF9 Gene
54 Qiagen pathways for GDF9 Gene
  • 14-3-3 Induced Intracellular Signaling
  • Actin-Based Motility by Rho Family GTPases
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Activation of PKC through GPCR

Gene Ontology (GO) - Biological Process for GDF9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001555 oocyte growth IEA --
GO:0007165 signal transduction IEA --
GO:0007179 transforming growth factor beta receptor signaling pathway TAS 7760846
GO:0007292 female gamete generation TAS 7760846
GO:0008284 positive regulation of cell proliferation IDA 19366876
genes like me logo Genes that share ontologies with GDF9: view

No data available for SIGNOR curated interactions for GDF9 Gene

Drugs & Compounds for GDF9 Gene

(2) Drugs for GDF9 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for GDF9 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GDF9: view

Transcripts for GDF9 Gene

mRNA/cDNA for GDF9 Gene

6 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GDF9

Alternative Splicing Database (ASD) splice patterns (SP) for GDF9 Gene

No ASD Table

Relevant External Links for GDF9 Gene

GeneLoc Exon Structure for
GDF9

Expression for GDF9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GDF9 Gene

mRNA differential expression in normal tissues according to GTEx for GDF9 Gene

This gene is overexpressed in Testis (x10.5).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GDF9

SOURCE GeneReport for Unigene cluster for GDF9 Gene:

Hs.25022

mRNA Expression by UniProt/SwissProt for GDF9 Gene:

O60383-GDF9_HUMAN
Tissue specificity: Expressed in ovarian granulosa cells. Present in oocytes of primary follicles (at protein level).
genes like me logo Genes that share expression patterns with GDF9: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for GDF9 Gene

Orthologs for GDF9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GDF9 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GDF9 30 31
  • 99.27 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GDF9 30 31
  • 85.55 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GDF9 30 31
  • 82.21 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gdf9 30
  • 79.27 (n)
Mouse
(Mus musculus)
Mammalia Gdf9 30 17 31
  • 77.88 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GDF9 31
  • 66 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 26 (a)
ManyToMany
-- 31
  • 23 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves GDF9 30
  • 63.91 (n)
GDF-9 31 31
  • 58 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia GDF9 31
  • 53 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100496740 30
  • 59.1 (n)
Zebrafish
(Danio rerio)
Actinopterygii gdf9 30 31
  • 52.04 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1523 30
Species where no ortholog for GDF9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for GDF9 Gene

ENSEMBL:
Gene Tree for GDF9 (if available)
TreeFam:
Gene Tree for GDF9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GDF9: view image

Paralogs for GDF9 Gene

genes like me logo Genes that share paralogs with GDF9: view

Variants for GDF9 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GDF9 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
635953 Uncertain Significance: Premature ovarian failure 132,864,674(-) T/TGCCTAGCTGAAGA FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
676789 Likely Benign: not provided 132,866,562(-) T/C FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
904277 Uncertain Significance: Mitochondrial complex III deficiency, nuclear type 4 132,866,685(-) C/T FIVE_PRIME_UTR_VARIANT
rs10491279 Benign: not specified 132,862,408(-) C/T SYNONYMOUS_VARIANT
rs118080183 Premature ovarian failure 14 (POF14) [MIM:618014] p.Ser428Thr

Additional dbSNP identifiers (rs#s) for GDF9 Gene

Structural Variations from Database of Genomic Variants (DGV) for GDF9 Gene

Variant ID Type Subtype PubMed ID
esv3606811 CNV gain 21293372
nsv5003 CNV deletion 18451855
nsv5004 CNV insertion 18451855
nsv830489 CNV loss 17160897

Variation tolerance for GDF9 Gene

Residual Variation Intolerance Score: 58.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.07; 37.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GDF9 Gene

Human Gene Mutation Database (HGMD)
GDF9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GDF9

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GDF9 Gene

Disorders for GDF9 Gene

MalaCards: The human disease database

(16) MalaCards diseases for GDF9 Gene - From: OMIM, ClinVar, GTR, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GDF9 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GDF9_HUMAN
  • Note=Altered GDF9 function may be involved in ovarian disorders and contribute to the likelihood of dizygotic twinning. {ECO:0000269 PubMed:16954162}.
  • Premature ovarian failure 14 (POF14) [MIM:618014]: An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. {ECO:0000269 PubMed:16278619, ECO:0000269 PubMed:16645022, ECO:0000269 PubMed:16954162, ECO:0000269 PubMed:17156781, ECO:0000269 PubMed:17482612, ECO:0000269 PubMed:19438907, ECO:0000269 PubMed:29044499}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GDF9

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with GDF9: view

No data available for Genatlas for GDF9 Gene

Publications for GDF9 Gene

  1. Analyses of GDF9 mutation in 100 Chinese women with premature ovarian failure. (PMID: 17482612) Zhao H … Rajkovic A (Fertility and sterility 2007) 3 4 23 41
  2. Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure. (PMID: 16645022) Laissue P … Veitia RA (European journal of endocrinology 2006) 3 4 23 41
  3. Mutational screening of the coding region of growth differentiation factor 9 gene in Indian women with ovarian failure. (PMID: 16278619) Dixit H … Singh L (Menopause (New York, N.Y.) 2005) 3 4 23 41
  4. Analyses of growth differentiation factor 9 (GDF9) and bone morphogenetic protein 15 (BMP15) mutation in Chinese women with premature ovarian failure. (PMID: 19438907) Wang B … Ma X (Clinical endocrinology 2010) 3 4 23
  5. Golgi apparatus casein kinase phosphorylates bioactive Ser-6 of bone morphogenetic protein 15 and growth and differentiation factor 9. (PMID: 20067794) Tibaldi E … Pinna LA (FEBS letters 2010) 3 4 23

Products for GDF9 Gene

Sources for GDF9 Gene