GDF9 - growth differentiation factor 9 Gene

Also Known as POF14

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2661

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	References	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

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05358	GDF9 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17807	Gdf9 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24275	Gdf9 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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