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GDF9 Gene(Protein Coding)

Growth Differentiation Factor 9

GCID:
GC05M132861
GIFtS:
57
Genes Participants
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Aliases for GDF9 Gene

Aliases for GDF9 Gene

  • Growth Differentiation Factor 9 2 3 5
  • GDF-9 3 4

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 member of the transforming growth factor-beta superfamily. The encoded preproprotein is processed into a secreted factor that is required for ovarian folliculogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

GeneCards Summary for GDF9 Gene

GDF9 (Growth Differentiation Factor 9) is a Protein Coding gene. Diseases associated with GDF9 include Ovarian Disease and Premature Ovarian Failure. Among its related pathways are p70S6K Signaling and ERK Signaling. GO annotations related to this gene include cytokine activity and transforming growth factor beta receptor binding. An important paralog of this gene is GDF10.

UniProtKB/Swiss-Prot 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GDF9 Gene

Genomics for GDF9 Gene

Products:

  1. Regulatory Element

Regulatory Elements for GDF9 Gene

Enhancers for GDF9 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GDF9 on UCSC Golden Path with GeneCards custom track

Promoters for GDF9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GDF9 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the GDF9 gene promoter:

Genomic Location for GDF9 Gene

Chromosome:
5
Start:
132,861,181 bp from pter
End:
132,866,884 bp from pter
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 Structure • Gene Density

RefSeq DNA sequence for GDF9 Gene

Proteins for GDF9 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Proteomics data for GDF9 Gene at MOPED

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 Asn 106, Asn 163, Asn 236, Asn 255, Asn 268, and Asn 338
  • Modification sites at PhosphoSitePlus

Other Protein References for GDF9 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for GDF9 Gene

Domains & Families for GDF9 Gene

Gene Families for GDF9 Gene

HGNC:

Protein Domains for GDF9 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for GDF9 Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for GDF9 Gene

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
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.

LifeMap Function Summary for GDF9 Gene

It affects the following cells:

Phenotypes for GDF9 Gene

MGI mutant phenotypes for GDF9:
inferred from 1 alleles
GenomeRNAi human phenotypes for GDF9:
genes like me logo Genes that share phenotypes with GDF9: view

Animal Models for GDF9 Gene

MGI Knock Outs for GDF9:

Animal Model Products

  • Taconic Biosciences Mouse Models for GDF9

miRNA for GDF9 Gene

miRTarBase miRNAs that target GDF9

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , 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
Jensen Localization Image for GDF9 Gene COMPARTMENTS Subcellular localization image for GDF9 gene
Compartment Confidence
extracellular 5
golgi apparatus 2
nucleus 2
endoplasmic reticulum 1
lysosome 1
plasma membrane 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for GDF9 Gene

Pathways & Interactions for GDF9 Gene

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

Pathways by source for GDF9 Gene

1 Sino Biological pathway for GDF9 Gene
1 BioSystems pathway for GDF9 Gene
1 KEGG pathway for GDF9 Gene

Gene Ontology (GO) - Biological Process for GDF9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007179 transforming growth factor beta receptor signaling pathway TAS 7760846
GO:0008284 positive regulation of cell proliferation IDA 19366876
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation IBA --
GO:0030308 negative regulation of cell growth IEA --
GO:0030509 BMP signaling pathway IBA --
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

Products:

  1. Drug

(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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for GDF9 Gene

(12) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(5) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GDF9 Gene

Growth differentiation factor 9:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for GDF9 Gene

GeneLoc Exon Structure for
GDF9
ECgene alternative splicing isoforms for
GDF9

Expression for GDF9 Gene

Products:

  1. Primer

mRNA expression in normal human tissues for GDF9 Gene

mRNA expression in normal human tissues for GDF9 Gene
mRNA expression by BioGPS for GDF9 GenemRNA expression by GTEx for GDF9 Gene

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

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

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

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners 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
cow
(Bos Taurus)
 Mammalia GDF9 35
  • 85.55 (n)
  • 79.65 (a)
GDF9 36
  • 79 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia GDF9 35
  • 82.21 (n)
  • 74.44 (a)
GDF9 36
  • 74 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Gdf9 35
  • 77.88 (n)
  • 74.09 (a)
Gdf9 16
Gdf9 36
  • 74 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia GDF9 35
  • 99.27 (n)
  • 99.12 (a)
GDF9 36
  • 99 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Gdf9 35
  • 79.27 (n)
  • 75.63 (a)
oppossum
(Monodelphis domestica)
 Mammalia GDF9 36
  • 66 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 36
  • 26 (a)
 ManyToMany
-- 36
  • 23 (a)
 ManyToMany
chicken
(Gallus gallus)
 Aves GDF9 35
  • 63.91 (n)
  • 60.92 (a)
GDF-9 36
  • 58 (a)
 OneToMany
GDF-9 36
  • 58 (a)
 OneToMany
lizard
(Anolis carolinensis)
 Reptilia GDF9 36
  • 53 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC100496740 35
  • 59.1 (n)
  • 54.35 (a)
zebrafish
(Danio rerio)
 Actinopterygii gdf9 35
  • 52.04 (n)
  • 46.63 (a)
gdf9 36
  • 40 (a)
 OneToOne
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.1523 35
Species with no ortholog for GDF9:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for GDF9 Gene

Paralogs for GDF9 Gene

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

Variants for GDF9 Gene

Sequence variations from dbSNP and Humsavar for GDF9 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
VAR_058945 -
VAR_058946 -
VAR_058947 -
rs138136756 - 132,864,365(+) TCTGT(A/C)TCTCT intron-variant, reference, missense, utr-variant-5-prime
rs61754583 - 132,864,227(+) TTTAG(A/G)AATCC intron-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
nsv882919 CNV Gain 21882294
nsv830489 CNV Loss 17160897
nsv5003 CNV Loss 18451855
nsv5004 CNV Insertion 18451855

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)

Relevant External Links for GDF9 Gene

Human Gene Mutation Database (HGMD)
GDF9

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

Disorders for GDF9 Gene

MalaCards: The human disease database

(5) MalaCards diseases for GDF9 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ovarian disease
  • ovarian dysfunction
premature ovarian failure
  • premature menopause
premature ovarian failure 1
  • turner syndrome
reproductive system disease
  • genital system disease
female reproductive system disease
  • genital diseases, female
- 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. Rare variants in GDF9 have been found in patients with premature ovarian failure and mothers of dizygotic twins. {ECO:0000269 PubMed:16954162}.

Relevant External Links for GDF9

Genetic Association Database (GAD)
GDF9
Human Genome Epidemiology (HuGE) Navigator
GDF9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GDF9
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. (Fertil. Steril. 2007) 3 4 23 48 67
  2. Oocyte-specific expression of growth/differentiation factor-9. (PMID: 7760846) McGrath S.A. … Lee S.J. (Mol. Endocrinol. 1995) 2 3 23
  3. Expression of growth differentiation factor-9 and bone morphogenetic protein-15 in oocytes and cumulus granulosa cells of patients with polycystic ovary syndrome. (PMID: 19376510) Zhao S.Y. … Yan J. (Fertil. Steril. 2010) 3 23
  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. (Clin. Endocrinol. (Oxf.) 2010) 3 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 L.A. (FEBS Lett. 2010) 3 23

Products for GDF9 Gene

Sources for GDF9 Gene

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