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GDF9 Gene

protein-coding GIFtS: 63
GCID: GC05M132196

Growth Differentiation Factor 9

See related diseases
at

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(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:

NC_000005.10 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 plasmid: GDF9 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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

GDF9 for domains About GeneDecksing

(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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, 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 ID	Qualified GO term	Evidence	PubMed IDs
GO:0005125	cytokine activity	IEA	--
GO:0008083	growth 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 Gdf9^tm1Zuk for GDF9

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GDF9

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GDF9

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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GDF9

(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:

Compartment	Confidence
extracellular	3
golgi apparatus	2
nucleus	2
plasma membrane	2
endoplasmic reticulum	1
lysosome	1

About this image

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005615	extracellular space	IEA	--

GDF9 for ontologies About GeneDecksing

(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

SuperPath

Selected contained pathways About (see all per SuperPath)

Apoptotic Pathways in Synovial Fibroblasts

Mitochondrial Apoptosis	0.85	Rac1 Pathway	0.65
Cellular Apoptosis Pathway	0.85	Glioma Invasiveness	0.64
Apoptotic Pathways in Synovial Fibroblasts	0.84	Actin-Based Motility by Rho Family GTPases	0.62
p53 Mediated Apoptosis	0.84	ERK5 Signaling	0.61

GPCR Pathway

Ras Pathway	0.73	Breast Cancer Regulation by Stathmin1	0.58
Paxillin Interactions	0.73	NFAT in Immune Response	0.58
GPCR Pathway	0.62	Estrogen Pathway	0.55
Pancreatic Adenocarcinoma	0.59

ERK Signaling

Rho Family GTPases	0.61	Molecular Mechanisms of Cancer	0.51
ERK Signaling	0.61	ILK Signaling	0.49
MAPK Signaling	0.58

Nanog in Mammalian ESC Pluripotency

	Nanog in Mammalian ESC Pluripotency	0.61			14-3-3 Induced Intracellular Signaling	0.59
	GSK3 Signaling	0.61			eNOS Signaling	0.48

TGF-Beta Pathway

	TGF-Beta Pathway	0.60			JAK-STAT Pathway	0.57
	MAPK Family Pathway	0.60			JNK Pathway	0.51

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

GDF9 for pathways About GeneDecksing

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 (O60383^{2, 3} ENSP00000296875⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 61)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SMN1	Q16637²^,³	MINT-8271179 MINT-64288 I2D: score=5
SMN2	Q16637²^,³	MINT-8271179 MINT-64288 I2D: score=5
TK1	P04183²^,³	MINT-8273477 MINT-63363 I2D: score=5
GADD45G	O95257²^,³, ENSP00000252506⁴	MINT-3979120 I2D: score=4 STRING: ENSP00000252506
TDGF1	P13385²^,³, ENSP00000296145⁴	MINT-63464 I2D: score=4 STRING: ENSP00000296145

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

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:0030308	negative regulation of cell growth	IEA	--

GDF9 for ontologies About GeneDecksing

(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)

GDF9 for compounds About GeneDecksing

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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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

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 Products:		OriGene qSTAR qPCR primer pairs in human, mouse for GDF9
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat GDF9
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		QuantiFast Probe-based Assays in human, mouse, rat GDF9

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	Gdf9^{1 , 5}	growth differentiation factor 9^{1, 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

GDF9 for paralogs About GeneDecksing

(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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SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs10491280^1,2	C,F,H	--	132196383(-)	`ATTTAT/GAACTG`	1	--	ds500¹		26		NS NA EA WA CSA	2452
rs182546602^1,2		--	132196389(+)	`TAAATA/CTATCT`	1	--	ds500¹		0	--	--	--	--
rs138102731^1,2		--	132196508(+)	`ATATAG/TAAAGA`	1	--	ds500¹		0	--	--	--	--
rs149544783^1,2		--	132196638(+)	`TGCTAC/GTTAAC`	1	--	ds500¹		0	--	--	--	--
rs17516673^1,2	C,F,H	--	132196711(+)	`GCTCTC/TTAGTC`	1	--	ds500¹		20		NA NS EA WA	2358
rs59682592^1,2	C,F	--	132196800(+)	`ATGGCC/TAGCTT`	1	--	ds500¹		4		WA NA EA	244
rs188063870^1,2		--	132196868(+)	`ACACAA/CAAAAT`	1	--	ds500¹		0	--	--	--	--
rs192642231^1,2		--	132196904(+)	`TTCTAA/TTAAGA`	1	--	ut3¹		0	--	--	--	--
rs144116922^1,2		--	132197185(+)	`ACATTC/TAGAGA`	1	--	ut3¹		0	--	--	--	--
rs148683120^1,2	C	--	132197237(+)	`ACAGTA/CGTTAC`	1	--	ut3¹		0	--	--	--	--

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

Structural Variations
Database of Genomic Variants (DGV) 4 variations for GDF9: About this table

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

Human Gene Mutation Database (HGMD): GDF9

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(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.)
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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

19 diseases for GDF9:
About MalaCards

polycystic ovary syndrome kidney cancer premature ovarian failure galactosemia

blepharophimosis amenorrhea gonadal dysgenesis infertility

endometriosis hepatitis b huntington's disease hepatitis

prostate cancer prostatitis multiple myeloma myeloma

breast cancer adenocarcinoma 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

(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)

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world of online information

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)
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)
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)
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)
Oocyte-specific expression of growth/differentiation factor-9. (PubMed id 7760846)^{1, 3, 9} McGrath S.A....Lee S.J. (Mol. Endocrinol. 1995)
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)
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)
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)
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)
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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		AND	OR
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)
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Name	Description
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.)

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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

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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Growth Differentiation Factor 9

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