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Aliases for GDF9 Gene

Aliases for GDF9 Gene

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

External Ids for GDF9 Gene

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 polycystic ovary syndrome and kidney cancer. Among its related pathways are NF-KappaB Family Pathway and NF-KappaB Family Pathway. GO annotations related to this gene include cytokine activity and growth factor activity. An important paralog of this gene is NODAL.

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

Genomic Location for GDF9 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GDF9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GDF9 Gene

Regulatory Elements 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

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.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn106, Asn163, Asn236, Asn255, Asn268, and Asn338

No data available for DME Specific Peptides for GDF9 Gene

Domains for GDF9 Gene

Gene Families for GDF9 Gene

HGNC:

UniProtKB/Swiss-Prot:

GDF9_HUMAN
Family:
  • Belongs to the TGF-beta family.:
    • O60383
genes like me logo Genes that share domains with GDF9: view

Function for GDF9 Gene

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:

Gene Ontology (GO) - Molecular Function for GDF9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005125 cytokine activity IBA --
GO:0005160 transforming growth factor beta receptor binding IBA --
GO:0008083 growth factor activity IEA --
genes like me logo Genes that share ontologies with GDF9: view
genes like me logo Genes that share phenotypes with GDF9: view

Animal Models for GDF9 Gene

MGI Knock Outs for GDF9:

miRNA for GDF9 Gene

miRTarBase miRNAs that target GDF9

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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 3
golgi apparatus 2
nucleus 2
plasma membrane 2
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for GDF9 Gene

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

Pathways for GDF9 Gene

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

Gene Ontology (GO) - Biological Process for GDF9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001555 oocyte growth 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
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation IBA --
genes like me logo Genes that share ontologies with GDF9: view

Compounds for GDF9 Gene

(3) Novoseek inferred chemical compound relationships for GDF9 Gene

Compound -log(P) Hits PubMed IDs
ribonucleic acid 34.6 1
threonine 15 2
cysteine 0 1
genes like me logo Genes that share compounds with GDF9: view

Transcripts for GDF9 Gene

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:

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

mRNA expression in normal human tissues for GDF9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Testis (10.5).

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 expressions with GDF9: view

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 36
  • 99.27 (n)
  • 99.12 (a)
GDF9 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GDF9 36
  • 85.55 (n)
  • 79.65 (a)
GDF9 37
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GDF9 36
  • 82.21 (n)
  • 74.44 (a)
GDF9 37
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gdf9 36
  • 77.88 (n)
  • 74.09 (a)
Gdf9 16
Gdf9 37
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GDF9 37
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 26 (a)
ManyToMany
-- 37
  • 23 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Gdf9 36
  • 79.27 (n)
  • 75.63 (a)
chicken
(Gallus gallus)
Aves GDF-9 37
  • 58 (a)
OneToMany
GDF-9 37
  • 58 (a)
OneToMany
GDF9 36
  • 63.91 (n)
  • 60.92 (a)
lizard
(Anolis carolinensis)
Reptilia GDF9 37
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496740 36
  • 59.1 (n)
  • 54.35 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1523 36
zebrafish
(Danio rerio)
Actinopterygii gdf9 36
  • 52.04 (n)
  • 46.63 (a)
gdf9 37
  • 40 (a)
OneToOne
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 MAF
rs254285 -- 132,862,595(-) TGACT(C/G)ATTTT intron-variant
rs254286 -- 132,862,507(-) ACTAC(C/T)GTTGA reference, synonymous-codon
rs4705974 -- 132,863,250(+) ACTTA(C/T)TAAGA intron-variant
rs5871466 -- 132,863,442(+) TTTTT(-/T)GAGAC intron-variant
rs10491279 Benign 132,862,408(-) AAGGA(A/G)CCAAA synonymous-codon, reference

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

Relevant External Links for GDF9 Gene

HapMap Linkage Disequilibrium report
GDF9
Human Gene Mutation Database (HGMD)
GDF9

Disorders for GDF9 Gene

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}.

(5) Novoseek inferred disease relationships for GDF9 Gene

Disease -log(P) Hits PubMed IDs
ovarian failure premature 83.6 6
ovarian dysfunction 67.2 1
atresia 56.5 4
polycystic ovary syndrome 50.9 6
infertility 39.5 4

Relevant External Links for GDF9

Genetic Association Database (GAD)
GDF9
Human Genome Epidemiology (HuGE) Navigator
GDF9
genes like me logo Genes that share disorders with GDF9: view

Publications for GDF9 Gene

  1. 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 2005) 3 4 23 49
  2. Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure. (PMID: 16645022) Laissue P. … Veitia R.A. (Eur. J. Endocrinol. 2006) 3 4 23 49
  3. Analyses of GDF9 mutation in 100 Chinese women with premature ovarian failure. (PMID: 17482612) Zhao H. … Rajkovic A. (Fertil. Steril. 2007) 3 4 23 49
  4. Novel variants in growth differentiation factor 9 in mothers of dizygotic twins. (PMID: 16954162) Palmer J.S. … Montgomery G.W. (J. Clin. Endocrinol. Metab. 2006) 3 4 23
  5. Mutational analysis of BMP15 and GDF9 as candidate genes for premature ovarian failure. (PMID: 17027369) Chand A.L. … Shelling A.N. (Fertil. Steril. 2006) 3 23 49

Products for GDF9 Gene

Sources for GDF9 Gene

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