GDF9 - growth differentiation factor 9 Gene

Homo sapiens

Also known as POF14

Gene ID: 2661 | Gene type: protein coding

About GDF9

Cytogenetic location: 5q31.1 Genomic coordinates (GRCh38): 5:132,861,185-132,866,651 (from NCBI)

This gene has 8 transcripts (splice variants), 196 orthologues, 31 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 3.7), heart (RPKM 1.7) and 25 other tissues.

Summary

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]

GDF9 Products(6)

mRNA	Protein	Name
NM_001288824.4	NP_001275753.1	growth/differentiation factor 9 isoform 2
NM_001288825.4	NP_001275754.1	growth/differentiation factor 9 isoform 2
NM_001288826.3	NP_001275755.1	growth/differentiation factor 9 isoform 2
NM_001288827.3	NP_001275756.1	growth/differentiation factor 9 isoform 2
NM_001288828.3	NP_001275757.1	growth/differentiation factor 9 isoform 2
NM_005260.7	NP_005251.1	growth/differentiation factor 9 isoform 1 preproprotein

Gene Ontology

Biological Process

Biological Process GO Annotation	Evidence	Reference	Source
involved in positive regulation of cell population proliferation	IDA IDA: Inferred from direct assay	19366876	GOA
involved in regulation of progesterone secretion	IDA IDA: Inferred from direct assay	12050262	GOA
involved in regulation of progesterone secretion	IMP IMP: Inferred from mutant phenotype	20660033	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GDF9 Protein Structure

TGF_beta

0
100
200
300
400
454 a.a.

Protein Preferred Names

Protein Names

growth/differentiation factor 9

Recombinant GDF9 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P72425	GDF-9 Protein, Human (GST)	O60383 (G320-R454)	≥95%

Related Diseases

Diseases

Alias

Premature Ovarian Failure 14

POF14

Polycystic Ovary Syndrome

Polycystic Ovarian Syndrome	Pcos
Polycystic Ovarian Disease	Polycystic Ovaries
Stein-Leventhal Syndrome	Multicystic Ovaries
Polycystic Ovary	Sclerocystic Ovaries
Sclerocystic Ovary Syndrome	Stein-Leventhal Synd.
Cystic Disease Of Ovaries	Cystic Disease Of Ovary
Pco	Pcod
Sclerocystic Ovarian Degeneration	Polycystic Ovary Syndrome, Susceptibility To
Pcos - [Polycystic Ovary Syndrome]	Polycystic Ovary Nos
Pco - [Polycystic Ovary]

Ovarian Disease

Ovarian Dysfunction	Ovarian Diseases
Ovarian Disorders	Disorder Of Endocrine Ovary

Infertility

Genetic Non-Acquired Premature Ovarian Failure

Premature Ovarian Failure 1

Ovarian Failure, Premature	Fmr1-Related Primary Ovarian Insufficiency
Fragile X-Associated Primary Ovarian Insufficiency	POF1
Pofx	Hypergonadotropic Ovarian Failure, X-Linked
Pof	Primary Ovarian Insufficiency, Fragile X-Associated
Primary Ovarian Insufficiency 1	Ovarian Failure Premature
Premature Ovarian Failure, X-Linked	Fragile X Premature Ovarian Failure
Fmr1-Related Premature Ovarian Failure	Familial Premature Ovarian Failure
Idiopathic Familial Premature Ovarian Failure	Fxpoi
X-Linked Hypergonadotropic Ovarian Failure	Hypergonadotropic Ovarian Failure X-Linked
Poi	Premature Ovarian Failure X-Linked
Primary Ovarian Insufficiency	Premature Ovarian Failure-1
Ovarian Failure, Premature, Type 1	Premature Ovarian Failure, Familial
Premature Menopause	Primary Hypogonadism
Turner Syndrome

Amenorrhea

Absence Of Menstruation

Amenia

Gonadal Dysgenesis

Gonadal Dysgenesis Syndrome

Turner Syndrome

46 Xx Gonadal Dysgenesis

Ovarian Dysgenesis	Gonadal Dysgenesis, 46,Xx
Dysgenesis, Ovarian

Galactosemia I

Galactosemia	Galt Deficiency
Classic Galactosemia	Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose-1-Phosphate Uridyltransferase Deficiency	GALAC1
Galactosemia, Classic	Galactosemia Type 1
Galactosemias	Classical Galactosemia
Galactosaemia	Galactose Intolerance
Epimerase Deficiency Galactosemia	Galactokinase Deficiency Disease
Galactose Epimerase Deficiency	Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease
Gale Deficiency	Galk Deficiency
Udp-Galactose-4-Epimerase Deficiency Disease	Utp Hexose-1-Phosphate Uridylyltransferase Deficiency
Galactosemia 1	Galactosemia, Duarte Variant
Deficiency Of Galactokinase	Udpglucose 4-Epimerase Deficiency Disease
Classical Galactosaemia	Galput Deficiency - [Galactose-4-Phosphate Uridyltransferase] Deficiency
Classic Galactosaemia	Deficiency Of Hexose-1-Phosphate Uridylyltransferase
Deficiency Of Udpglucose-Hexose-1-Phosphate Uridylyltransferase	Deficiency Of Galactose-1-Phosphate Uridylyltransferase
Galactose-1-Phosphate Uridyl Transferase Deficiency	Transferase Deficiency Galactosemia
Deficiency Of Uridyl Transferase	Deficiency Of Utp-Hexose-1-Phosphate Uridylyltransferase
Utp-Hexose-1-Phosphate Uridyltransferase Deficiency

Premature Menopause

Primary Ovarian Insufficiency	Premature Ovarian Failure
Hypergonadotropic Hypogonadism	Premature Ovarian Insufficiency
Menopause - Premature	Menopause Praecox
Menopause Premature	Menopause, Premature
Female Hypergonadotropic Hypogonadism	Hypergonadotrophic Ovarian Failure
Primary Female Hypogonadism	Pof - [Premature Ovarian Failure]
Ovarian Failure	Ovarian Secretion Suppression
Ovary Hyposecretion	Ovary Secretion Deficiency
Premature Menopause Nos

Blepharophimosis, Ptosis, And Epicanthus Inversus

Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome	BPES
Blepharophimosis Syndrome	Blepharophimosis, Epicanthus Inversus, And Ptosis, Type 1
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome	Bpes With Duane Retraction Syndrome
Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome Type 2	Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome Type 1
Blepharophimosis, Epicanthus Inversus, And Ptosis, Type 2	Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 2	Bpes Type 2
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Without Premature Ovarian Failure	Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
3q23 Microdeletion Syndrome	Bpes Plus
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 1	Bpes Type 1
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome With Premature Ovarian Failure	Blepharophimosis, Ptosis, Epicanthus Inversus
Autosomal Dominant Bpes Type I	Autosomal Recessive Bpes Type I
Bpes Type I	Bpes Type Ii
Bpes Without Ovarian Failure	Bpes With Ovarian Failure
Blepharophimosis Syndrome Type 1	Blepharophimosis Syndrome Type 2

Anovulation

Disorder Of Sexual Development

Disorder Of Sex Development	Disorders Of Sex Development
Sex Development Disorder	Sex Differentiation Disease
Dsd	Sex Differentiation Disorders

Perrault Syndrome

Gonadal Dysgenesis, Xx Type, With Deafness	Ovarian Dysgenesis With Sensorineural Deafness
Gonadal Dysgenesis, Xx Type	Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance
Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance	Xx Gonodal Dysgenesis-Deafness Syndrome
Xx Gonodal Dysgenesis-Hearing Loss Syndrome	Gonadal Dysgenesis Xx Type Deafness

Fanconi Anemia, Complementation Group A

Fanconi Anemia	Fanconi Pancytopenia
Fanconi Anemia Complementation Group A	FANCA
Fa	Fanconi Panmyelopathy
Fanconi'S Anemia	Fanconi Anaemia
Fanconi'S Anaemia	Fanconi Hypoplastic Anemia
Estren-Dameshek Variant Of Fanconi Anemia	Estren-Dameshek Variant Of Fanconi Pancytopenia
Fanconi Anemia Estren-Dameshek Variant	Fanconis Anemia

Spermatogenic Failure

Azoospermia	Spgf
Spermatogenic Failure, Susceptibility To	Absent Sperm
Aspermatogenesis	Infertility Due To Azoospermia
Hypospermatogenesis	Azoospermatism

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05358	GDF9 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	GDF9	VGNC	VGNC:62505
Macaca mulatta	GDF9	VGNC	VGNC:110462
Mus musculus	GDF9	MGD	MGI:95692
Rattus norvegicus	GDF9	RGD	RGD:71038
Canis familiaris	GDF9	VGNC	VGNC:41164
Bos taurus	GDF9	VGNC	VGNC:29306
Others	GDF9	NCBI

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