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GDF9 Gene

protein-coding   GIFtS: 63
GCID: GC05M132196

Growth Differentiation Factor 9

  See GDF9-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
Growth Differentiation Factor 91 2
GDF-92 3
Growth/Differentiation Factor 92

External Ids:    HGNC: 42241   Entrez Gene: 26612   Ensembl: ENSG000001644047   OMIM: 6019185   UniProtKB: O603833   
ORGUL members:         

Export aliases for GDF9 gene to outside databases

Previous GC identifers: GC05M131719 GC05M132644 GC05M132228 GC05M132273 GC05M132225 GC05M132224 GC05M127389


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include growth factor activity and cytokine activity. An important paralog of this gene is GDF15.

UniProtKB/Swiss-Prot: GDF9_HUMAN, O60383
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

Gene Wiki entry for GDF9 (Growth differentiation factor-9) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NT_034772.7  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GDF9 gene promoter:
         E2F-4   E2F-3a   E2F-5   E2F-1   E2F   Brachyury   ARP-1   E2F-2   Nkx2-5   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGDF9 promoter sequence
   Search Chromatin IP Primers for GDF9

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GDF9


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q31.1   Ensembl cytogenetic band:  5q31.1   HGNC cytogenetic band: 5q31.1

GDF9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GDF9 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M132196:  view genomic region     (about GC identifiers)

Start:
132,196,873 bp from pter      End:
132,202,576 bp from pter
Size:
5,704 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GDF9_HUMAN, O60383 (See protein sequence)
Recommended Name: Growth/differentiation factor 9 precursor  
Size: 454 amino acids; 51444 Da
Subunit: 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
Secondary accessions: Q4VAW5

Explore the universe of human proteins at neXtProt for GDF9: NX_O60383

Explore proteomics data for GDF9 at MOPED

Post-translational modifications: 

  • Phosphorylated; phosphorylation is critical for GDF9 function. In vitro, can be phosphorylated by CK at Ser-3251
  • Glycosylation2 at Asn106, Asn163, Asn236, Asn255, Asn268, Asn338
  • Modification sites at PhosphoSitePlus

  • See GDF9 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001275753.1  NP_001275754.1  NP_001275755.1  NP_001275756.1  NP_001275757.1  NP_005251.1  

    ENSEMBL proteins: 
     ENSP00000367942   ENSP00000296875  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ENDOLIG: Endogenous ligands

    4 InterPro protein domains:
     IPR015615 TGF-beta-rel
     IPR015617 Growth_differentiation_fac-9
     IPR001839 TGF-b_C
     IPR017948 TGFb_CS

    Graphical View of Domain Structure for InterPro Entry O60383

    ProtoNet protein and cluster: O60383

    2 Blocks protein domains:
    IPB001839 Transforming growth factor beta (TGFb)
    IPB002405 Inhibin alpha chain signature


    UniProtKB/Swiss-Prot: GDF9_HUMAN, O60383
    Similarity: Belongs to the TGF-beta family


    Find genes that share domains with GDF9           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GDF9_HUMAN, O60383
    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 entry for GDF9:
    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

         Summary: 
    During embryonic development, GDF9 as signaling molecule affects the following cells:
    Ovary: Cumulus Cells (Antral Follicle)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005125cytokine activity IEA--
    GO:0008083growth factor activity IEA--
         
    Find genes that share ontologies with GDF9           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Gdf9):
     endocrine/exocrine gland  homeostasis/metabolism  reproductive system 

    Find genes that share phenotypes with GDF9           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Gdf9tm1Zuk for GDF9

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GDF9
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GDF9_HUMAN, O60383: Secreted (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular3
    golgi apparatus2
    nucleus2
    plasma membrane2
    endoplasmic reticulum1
    lysosome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IEA--

    Find genes that share ontologies with GDF9           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GDF9 About   (see all 15)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Apoptotic Pathways in Synovial Fibroblasts
    Mitochondrial Apoptosis0.85
    Rac1 Pathway0.65
    Cellular Apoptosis Pathway0.85
    Glioma Invasiveness0.64
    Apoptotic Pathways in Synovial Fibroblasts0.84
    Actin-Based Motility by Rho Family GTPases0.62
    p53 Mediated Apoptosis0.84
    ERK5 Signaling0.61
    2GPCR Pathway
    Ras Pathway0.73
    Breast Cancer Regulation by Stathmin10.58
    Paxillin Interactions0.73
    NFAT in Immune Response0.58
    GPCR Pathway0.62
    Estrogen Pathway0.55
    Pancreatic Adenocarcinoma0.59
    3ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    4Nanog in Mammalian ESC Pluripotency
    Nanog in Mammalian ESC Pluripotency0.61
    14-3-3 Induced Intracellular Signaling0.59
    GSK3 Signaling0.61
    eNOS Signaling0.48
    5TGF-Beta Pathway
    TGF-Beta Pathway0.60
    JAK-STAT Pathway0.57
    MAPK Family Pathway0.60
    JNK Pathway0.51


    Find genes that share SuperPaths with GDF9           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GDF9 (see all 54)
        Nuclear Receptor Activation by Vitamin-A
    Paxillin Interactions
    Telomerase Components in Cell Signaling
    Mitochondrial Apoptosis
    Molecular Mechanisms of Cancer

    1 BioSystems Pathway for GDF9
        Ovarian Infertility Genes

    1 Sino Biological Pathway for GDF9
        TGF-beta Signaling Pathway


    1 Kegg Pathway  (Kegg details for GDF9):
        Ovarian steroidogenesis

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GDF9: 
              Common Cytokines in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GDF9

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for GDF9 (O603832, 3 ENSP000002968754) via UniProtKB, MINT, STRING, and/or I2D (see all 61)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMN1Q166372, 3MINT-8271179 MINT-64288 I2D: score=5 
    SMN2Q166372, 3MINT-8271179 MINT-64288 I2D: score=5 
    TK1P041832, 3MINT-8273477 MINT-63363 I2D: score=5 
    GADD45GO952572, 3, ENSP000002525064MINT-3979120 I2D: score=4 STRING: ENSP00000252506
    TDGF1P133852, 3, ENSP000002961454MINT-63464 I2D: score=4 STRING: ENSP00000296145
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001555oocyte growth IEA--
    GO:0007179transforming growth factor beta receptor signaling pathway TAS7760846
    GO:0007292female gamete generation TAS7760846
    GO:0008284positive regulation of cell proliferation IDA19366876
    GO:0030308negative regulation of cell growth IEA--

    Find genes that share ontologies with GDF9           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GDF9

    3 Novoseek inferred chemical compound relationships for GDF9 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ribonucleic acid 34.6 1 10443672 (1)
    threonine 15 2 16603567 (1), 17482612 (1)
    cysteine 0 1 8429021 (1)



    Find genes that share compounds with GDF9           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for GDF9 gene (6 alternative transcripts): 
    NM_001288824.2  NM_001288825.2  NM_001288826.2  NM_001288827.2  NM_001288828.2  NM_005260.4  

    Unigene Cluster for GDF9:

    Growth differentiation factor 9
    Hs.25022  [show with all ESTs]
    Unigene Representative Sequence: NM_005260
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000378673(uc011cxj.1) ENST00000464378 ENST00000472320 ENST00000296875(uc003kxz.1)

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    Additional mRNA sequence: 

    AK301962.1 AK315973.1 BC096228.3 BC096229.3 BC096230.3 BC096231.1 

    4 DOTS entries:

    DT.202854  DT.100644535  DT.100645786  DT.120856103 

    5 AceView cDNA sequences:

    NM_005260 CA488820 AW770109 BF886517 AA604716 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GDF9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTACCTGCC
    GDF9 Expression
    About this image


    GDF9 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 8 entries
             Primary Oocyte Primary Follicle
             Ovarian tissue-dissociated cells (human)
             Oocytes
     
     Gonad
             Primary Oocyte Primary Follicle
             Human oogonial stem cells
     
     Germ Cells (Reproductive System)
             Human oogonial stem cells
     
     Testis (Reproductive System)
    GDF9 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GDF9 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.25022

    UniProtKB/Swiss-Prot: GDF9_HUMAN, O60383
    Tissue specificity: Expressed in ovarian granulosa cells. Present in oocytes of primary follicles (at protein
    level)

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GDF9: 
              Common Cytokines in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GDF9

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for GDF9 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gdf91 , 5 growth differentiation factor 91, 5 77.88(n)1
    74.09(a)1
      11 (31.94 cM)5
    145661  NM_008110.21  NP_032136.21 
     534310235 
    chicken
    (Gallus gallus)
    Aves GDF91 growth differentiation factor 9 63.91(n)
    60.92(a)
      404533  NM_206988.2  NP_996871.2 
    lizard
    (Anolis carolinensis)
    Reptilia GDF96
    growth differentiation factor 9
    53(a)
    1 ↔ 1
    2(127286436-127329932)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ031932.12   -- 75.94(n)    BJ031932.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gdf91 growth differentiation factor 9 52.04(n)
    46.63(a)
      497643  NM_001012383.1  NP_001012383.1 


    ENSEMBL Gene Tree for GDF9 (if available)
    TreeFam Gene Tree for GDF9 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GDF9 gene
    GDF152  NODAL2  BMP32  GDF102  BMP152  

    Find genes that share paralogs with GDF9           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GDF9 (see all 132)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs104912801,2
    C,F,H--132196383(-) ATTTAT/GAACTG 1 -- ds500126Minor allele frequency- G:0.18NS NA EA WA CSA 2452
    rs1825466021,2
    --132196389(+) TAAATA/CTATCT 1 -- ds50010--------
    rs1381027311,2
    --132196508(+) ATATAG/TAAAGA 1 -- ds50010--------
    rs1495447831,2
    --132196638(+) TGCTAC/GTTAAC 1 -- ds50010--------
    rs175166731,2
    C,F,H--132196711(+) GCTCTC/TTAGTC 1 -- ds500120Minor allele frequency- T:0.09NA NS EA WA 2358
    rs596825921,2
    C,F--132196800(+) ATGGCC/TAGCTT 1 -- ds50014Minor allele frequency- T:0.15WA NA EA 244
    rs1880638701,2
    --132196868(+) ACACAA/CAAAAT 1 -- ds50010--------
    rs1926422311,2
    --132196904(+) TTCTAA/TTAAGA 1 -- ut310--------
    rs1441169221,2
    --132197185(+) ACATTC/TAGAGA 1 -- ut310--------
    rs1486831201,2
    C--132197237(+) ACAGTA/CGTTAC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for GDF9 (132196873 - 132202576 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for GDF9:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv5004CNV Insertion18451855
    nsv830489CNV Loss17160897
    nsv5003CNV Loss18451855
    nsv882919CNV Gain21882294

    Human Gene Mutation Database (HGMD): GDF9
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GDF9
    DNA2.0 Custom Variant and Variant Library Synthesis for GDF9

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601918    OMIM disorders: --

    UniProtKB/Swiss-Prot: GDF9_HUMAN, O60383
  • 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

  • 3 diseases for GDF9:    
    About MalaCards
    polycystic ovary syndrome    kidney cancer    premature ovarian failure

    5 diseases from the University of Copenhagen DISEASES database for GDF9:
    Premature ovarian failure     Infertility     Blepharophimosis     Ovarian dysfunction
    Polycystic ovary syndrome

    Find genes that share disorders with GDF9           About GenesLikeMe

    5 Novoseek inferred disease relationships for GDF9 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ovarian failure premature 83.6 6 11056243 (2), 19438907 (1), 17027369 (1), 17482612 (1) (see all 5)
    ovarian dysfunction 67.2 1 15509699 (1)
    atresia 56.5 7 16740654 (2), 19589134 (1), 11788667 (1)
    polycystic ovary syndrome 50.9 7 19376510 (2), 11056243 (2), 15531477 (1), 11889206 (1)
    infertility 39.5 5 11604237 (1), 18162287 (1), 15607004 (1), 15509699 (1)

    Genetic Association Database (GAD): GDF9
    Human Genome Epidemiology (HuGE) Navigator: GDF9 (11 documents)

    Export disorders for GDF9 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GDF9 gene, integrated from 10 sources (see all 123):
    (articles sorted by number of sources associating them with GDF9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Analyses of GDF9 mutation in 100 Chinese women with premature ovarian failure. (PubMed id 17482612)1, 2, 4, 9 Zhao H.... Rajkovic A. (Fertil. Steril. 2007)
    2. Mutational screening of the coding region of growth differentiation factor 9 gene in Indian women with ovarian failure. (PubMed id 16278619)1, 2, 4, 9 Dixit H.... Singh L. (Menopause 2005)
    3. Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure. (PubMed id 16645022)1, 2, 4, 9 Laissue P.... Veitia R.A. (Eur. J. Endocrinol. 2006)
    4. Human growth differentiation factor 9 (GDF-9) and its novel homolog GDF-9B are expressed in oocytes during early folliculogenesis. (PubMed id 10443672)1, 2, 9 Aaltonen J.... Ritvos O. (J. Clin. Endocrinol. Metab. 1999)
    5. Oocyte-specific expression of growth/differentiation factor-9. (PubMed id 7760846)1, 3, 9 McGrath S.A....Lee S.J. (Mol. Endocrinol. 1995)
    6. Effects of growth differentiation factor 9 on cell cycle regulators and ERK42/44 in human granulosa cell proliferation. (PubMed id 19366876)1, 2, 9 Huang Q.... Leung P.C. (Am. J. Physiol. 2009)
    7. Growth differentiating factor-9 mutations may be associated with premature ovarian failure. (PubMed id 17156781)1, 2, 9 Kovanci E....Carson S.A. (Fertil. Steril. 2007)
    8. Analyses of growth differentiation factor 9 (GDF9) and bone morphogenetic protein 15 (BMP15) mutation in Chinese women with premature ovarian failure. (PubMed id 19438907)1, 2, 9 Wang B.... Ma X. (Clin. Endocrinol. (Oxf.) 2010)
    9. Phosphorylation of bone morphogenetic protein-15 and growth and differentiation factor-9 plays a critical role in determining agonistic or antagonistic functions. (PubMed id 18006624)1, 2, 9 McMahon H.E.... Shimasaki S. (Endocrinology 2008)
    10. Novel variants in growth differentiation factor 9 in mothers of dizygotic twins. (PubMed id 16954162)1, 2, 9 Palmer J.S.... Montgomery G.W. (J. Clin. Endocrinol. Metab. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2661 HGNC: 4224 AceView: GDF9 Ensembl:ENSG00000164404 euGenes: HUgn2661
    ECgene: GDF9 Kegg: 2661 H-InvDB: GDF9

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for GDF9 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GDF9 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for GDF9 gene:
    Search GeneIP for patents involving GDF9

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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