Aliases for GDF9 Gene
External Ids for GDF9 Gene
- HGNC: 4224
- Entrez Gene: 2661
- Ensembl: ENSG00000164404
- OMIM: 601918
- UniProtKB: O60383
Previous GeneCards Identifiers for GDF9 Gene
- GC05M131719
- GC05M132644
- GC05M132228
- GC05M132273
- GC05M132225
- GC05M132224
- GC05M132196
- GC05M127389
Summaries 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 Polycystic Ovary Syndrome and Ovarian Disease. Among its related pathways are GPCR Pathway and Phospholipase-C Pathway. 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 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.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GDF9 Gene
Genomics for GDF9 Gene
Regulatory Elements for GDF9 Gene
Enhancers for GDF9 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around GDF9 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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:
-
- 5q31.1 by Ensembl
- 5q31.1 by Entrez Gene
- 5q31.1 by HGNC
GDF9 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
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 isoforms=106, Asn163, isoforms=236, Asn255, isoforms=268, and Asn338
- Modification sites at PhosphoSitePlus
Other Protein References for GDF9 Gene
Antibody Products
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-
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-
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-
Santa Cruz Biotechnology (SCBT) Antibodies for GDF9
Protein Products
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-
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-
Cloud-Clone Corp. Proteins for GDF9
- antibodies-online Proteins for GDF9: See all 15
- Search antibodies-online for peptides
- GeneTex Proteins for GDF9
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
Suggested Antigen Peptide Sequences for GDF9 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O60383- Family:
-
- Belongs to the TGF-beta family.
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:
- Ovary
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005125 | cytokine activity | IEA,IBA | -- |
| GO:0005160 | transforming growth factor beta receptor binding | IBA | -- |
| GO:0008083 | growth factor activity | IEA | -- |
Phenotypes for GDF9 Gene
- MGI mutant phenotypes for GDF9:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for GDF9:
Animal Models for GDF9 Gene
- MGI Knock Outs for GDF9:
-
- Gdf9 tm1Zuk
Animal Model Products
-
Taconic Biosciences Mouse Models for GDF9
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for GDF9 gene
-
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CRISPR Products
-
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-
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miRNA for GDF9 Gene
- miRTarBase miRNAs that target GDF9
miRNA Products
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Inhibitory RNA Products
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-
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for GDF9
-
ViGene Biosciences adenoviral particle packaged cDNA for GDF9 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for GDF9 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for GDF9 gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , 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.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| nucleus | 2 |
| golgi apparatus | 2 |
| plasma membrane | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IEA | -- |
| GO:0005615 | extracellular space | IBA,IEA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
Pathways & Interactions for GDF9 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Apoptotic Pathways in Synovial Fibroblasts |
.74
.66
|
.65
.61
.60
.57
|
| 2 | GPCR Pathway |
.73
.62
|
.55
|
| 3 | ERK Signaling |
.61
.58
|
.49
|
| 4 | Nanog in Mammalian ESC Pluripotency |
.61
|
.48
|
| 5 | CREB Pathway |
.68
.68
|
|
Pathways by source for GDF9 Gene
1 BioSystems pathway for GDF9 Gene
1 KEGG pathway for GDF9 Gene
Interacting Proteins 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 | -- |
No data available for SIGNOR curated interactions for GDF9 Gene
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
CRISPR Products
-
OriGene CRISPR knockouts for GDF9
-
Santa Cruz Biotechnology (SCBT) CRISPR for GDF9
- GenScript: Design CRISPR guide RNA sequences for GDF9
miRNA Products
- Search ViGene Biosciences for GDF9
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for GDF9
- Browse OriGene Inhibitory RNA Products For GDF9
-
ViGene Biosciences ready-to-package AAV shRNAs for GDF9 gene
Clone Products
- Sino Biological Human cDNA Clone for GDF9
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for GDF9
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for GDF9
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
Expression for GDF9 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Ovary (Reproductive System)
- Primary Oocyte Primary Follicle
- Secondary Oocyte Antral Follicle
- Ovarian tissue-dissociated cells
- Ovarian tissue-dissociated cells (human)
- Secondary follicles
-
Gonad
- Primary Oocyte Primary Follicle
- Secondary Oocyte Antral Follicle
- Human oogonial stem cells(White YA et. al. 2012)
- Germ Cells (Reproductive System)
-
Testis (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for GDF9 Gene
This gene is overexpressed in Testis (x10.5).
NURSA nuclear receptor signaling pathways regulating expression of GDF9 Gene:
GDF9SOURCE GeneReport for Unigene cluster for GDF9 Gene:
Hs.25022mRNA 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).
Primer Products
-
OriGene qPCR primer pairs for GDF9
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | GDF9 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | GDF9 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | GDF9 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Gdf9 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Gdf9 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | GDF9 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
ManyToMany | |
| -- 35 |
|
ManyToMany | |||
| chicken (Gallus gallus) |
Aves | LOC100858088 34 |
|
||
| GDF-9 35 35 |
|
OneToMany | |||
| lizard (Anolis carolinensis) |
Reptilia | GDF9 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100496740 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | gdf9 34 35 |
|
||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.1523 34 |
|
- Species where no ortholog for GDF9 was found in the sources mined by GeneCards:
-
- 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)
Paralogs for GDF9 Gene
Variants for GDF9 Gene
| SNP ID | Clin | Chr 05 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs11544803 | Pathogenic | 132,867,015(+) | GGAGT(C/T)TTTCT | upstream-variant-2KB, reference, missense | |
| rs144996711 | Likely benign | 132,868,226(+) | CTGTG(C/T)GCCTC | upstream-variant-2KB, utr-variant-3-prime | |
| rs17166297 | Likely benign | 132,868,305(+) | TACAC(A/G)AATGA | upstream-variant-2KB, utr-variant-3-prime | |
| rs17624157 | Likely benign | 132,868,339(+) | TTAAC(A/G)TATCC | upstream-variant-2KB, utr-variant-3-prime | |
| rs4415070 | Likely benign | 132,867,916(+) | TTGGC(C/T)CTCTG | upstream-variant-2KB, utr-variant-3-prime |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GDF9 Gene
Disorders for GDF9 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| polycystic ovary syndrome |
|
|
| ovarian disease |
|
|
| premature ovarian failure 1 |
|
|
| female reproductive system disease |
|
|
| premature ovarian failure |
|
|
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
No data available for Genatlas for GDF9 Gene
Publications for GDF9 Gene
- Analyses of GDF9 mutation in 100 Chinese women with premature ovarian failure. (PMID: 17482612) Zhao H. … Rajkovic A. (Fertil. Steril. 2007) 3 4 22 46 64
- 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 22 46 64
- 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 22 46 64
- 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 4 22 64
- 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 4 22 64
Products for GDF9 Gene
- R&D Systems Antibodies for GDF9 (GDF-9)
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- antibodies-online Antibodies for GDF9: See all 117
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- GeneTex GDF9 antibody for GDF9
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- VectorBuilder custom plasmid, inducible vectors for GDF9
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for GDF9
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for GDF9 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
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- (97) IUPHAR
- (98) BioGPS
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- (100) COMPARTMENTS
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- (104) Addgene
- (105) antibodies-online
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- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
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- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer