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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GDF9 Gene

protein-coding   GIFtS: 61
GCID: GC05M132196

Growth Differentiation Factor 9
  16 related diseases
at
MalaCards
 

Aliases
for GDF9 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section
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   

Export aliases for GDF9 gene to outside databases

Previous GC identifers: GC05M131719 GC05M132644 GC05M132228 GC05M132273 GC05M132225 GC05M132224 GC05M127389


Summaries
for GDF9 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for GDF9 Gene:
Growth factors synthesized by ovarian somatic cells directly affect oocyte growth and function. Growth
differentiation factor-9 (GDF9) is expressed in oocytes and is thought to be required for ovarian
folliculogenesis. GDF9 is a member of the transforming growth factor-beta superfamily. (provided by RefSeq, Jul
2008)

GeneCards Summary for GDF9 Gene: 
GDF9 (growth differentiation factor 9) is a protein-coding gene. Diseases associated with GDF9 include polycystic ovary syndrome, and blepharophimosis, and among its related super-pathways are Rac1 Pathway and Ras Pathway. 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


Genomic Views
for GDF9 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_034772.6  NC_018916.2  
Regulatory elements:
   SABiosciences 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 plasmid: GDF9 promoter sequence
   Search SABiosciences Chromatin IP Primers for GDF9

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for GDF9 gene

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section
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)
Subcellular location: Secreted (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 co-regulated 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:

  • UniProtKB: Phosphorylated; phosphorylation is critical for GDF9 function. In vitro, can be phosphorylated by CK at Ser-325
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O60383

    • GDF9 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GDF9 Protein Expression
    REFSEQ proteins: NP_005251.1  
    ENSEMBL proteins: 
     ENSP00000367942   ENSP00000296875  

    Human Recombinant Protein Products for GDF9: 
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    Cloud-Clone Corp. Proteins for GDF9 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

    GDF9 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for GDF9 gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    		 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


    GDF9 for domains           About GeneDecksing


    Function
    for GDF9 gene

    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section
    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: Cumulus Cells in Antral Follicle

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005125cytokine activity IEA--
    GO:0008083growth factor activity IEA--
         
    GDF9 for ontologies           About GeneDecksing


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

    GDF9 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Gdf9tm1Zuk for GDF9

       inGenious Targeting Laboratory - Custom generated mouse model solutions for GDF9 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for GDF9

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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GDF9 

    miRNA
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    Inhib. RNA
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    Gene Editing
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    In Situ Assay
    Products:       
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    Pathways & Interactions
    for GDF9 gene

    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    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
    3Rho Family GTPases
    		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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/54 Downloadable PowerPoint Slides of QIAGEN 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


    GDF9 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GDF9

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/59 Interacting proteins for GDF9 (O603832, 3 ENSP000002968754) via UniProtKB, MINT, STRING, and/or I2D (see all 59)
    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): 5/6 biological process terms (GO ID links to tree view) (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--

    GDF9 for ontologies           About GeneDecksing



    Drugs & Compounds
    for GDF9 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GDF9 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about GDF9

    Transcripts
    for GDF9 gene

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for GDF9 gene: 
    NM_005260.3  

    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 BF886517 AW770109 CA488820 AA604716 

    GeneLoc Exon Structure


    Expression
    for GDF9 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GDF9 expression in normal human tissues (normalized intensities)      GDF9 embryonic expression: see
    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 
     5/3 selected tissues (see all 3) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 6 entries
             Primary Oocyte Primary Follicle
             Ovarian tissue-dissociated cells (human)
     
     Gonad
             Primary Oocyte Primary Follicle
     
     Testis (Reproductive System)

    See GDF9 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GDF9

    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)

        SABiosciences Expression via Pathway-Focused 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
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    Orthologs
    for GDF9 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for GDF9 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Gdf91 , 5 growth differentiation factor 91, 5 77.8(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 63.46(n)
    60.55(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 52.78(n)
    46.88(a)    		   497643  NM_001012383.1  NP_001012383.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta mav6
    		 maverick
    		 11(a)
    		 1 → many
    		 4(643845-646657)


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

    Paralogs
    for GDF9 gene

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

    GDF9 for paralogs           About GeneDecksing



    Genomic Variants
    for GDF9 gene

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/132 SNPs in GDF9 are shown (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
    ----------
    VAR_0589474
    		----see VAR_0589472 V M mis40--------
    VAR_0669384
    		----see VAR_0669382 T A mis40--------
    VAR_0589464
    		----see VAR_0589462 S Y mis40--------
    VAR_0669394
    		----see VAR_0669392 P L mis40--------
    VAR_0589454
    		----see VAR_0589452 K E mis40--------
    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

    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
    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for GDF9 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    		 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

    • 16 diseases for GDF9:    About MalaCards
    polycystic ovary syndrome    blepharophimosis    premature ovarian failure    galactosemia
    amenorrhea    gonadal dysgenesis    kidney cancer    infertility
    endometriosis    hepatitis b    prostate cancer    hepatitis
    prostatitis    adenocarcinoma    breast cancer    pancreatitis

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

    GDF9 for disorders           About GeneDecksing

    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

    Publications
    for GDF9 gene

    (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)
    About This Section

    PubMed articles for GDF9 gene, integrated from 9 sources (see all 116):
    (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. (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. (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. (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. (1999)
    5. Oocyte-specific expression of growth/differentiation factor-9. (PubMed id 7760846)1, 3, 9 McGrath S.A....Lee S.J. (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. (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. (2007)
    8. Analyses of growth differentiation factor 9 (GDF9) an d bone morphogenetic protein 15 (BMP15) mutation in Chinese women with prematur e ovarian failure. (PubMed id 19438907)1, 2, 9 Wang B....Ma X. (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. (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. (2006)

    External Searches for GDF9 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing GDF9 gene

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

    Other Databases showing GDF9 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing GDF9 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GDF9 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GDF9 Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for GDF9 gene

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

     
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