GDF9 growth differentiation factor 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GDF9provided by HGNC
Official Full Name: growth differentiation factor 9provided by HGNC
Primary source: HGNC:HGNC:4224
See related: Ensembl:ENSG00000164404 MIM:601918; AllianceGenome:HGNC:4224
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: POF14
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]
Expression: Broad expression in testis (RPKM 3.7), heart (RPKM 1.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q31.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (132861185..132866651, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (133380938..133386405, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (132196877..132202343, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GDF9[His209GlnfsTer6/S428T] and GDF9[Q321X/S428T] bi-allelic variants caused female subfertility with defective follicle enlargement.
Title: GDF9(His209GlnfsTer6/S428T) and GDF9(Q321X/S428T) bi-allelic variants caused female subfertility with defective follicle enlargement.
Interleukin 17 and Growth Differentiation Factor 9 Influence in a Sample of Iraqi Infertile Males.
Title: Interleukin 17 and Growth Differentiation Factor 9 Influence in a Sample of Iraqi Infertile Males.
Decreased GDF9 and BMP15 in follicle fluid and granulosa cells and outcomes of IVF-ET among young patients with low prognosis.
Title: Decreased GDF9 and BMP15 in follicle fluid and granulosa cells and outcomes of IVF-ET among young patients with low prognosis.
Serum GDF9 and BMP15 as potential markers of ovarian function in women with and without polycystic ovary syndrome.
Title: Serum GDF9 and BMP15 as potential markers of ovarian function in women with and without polycystic ovary syndrome.
GDF9 concentration in embryo culture medium is linked to human embryo quality and viability.
Title: GDF9 concentration in embryo culture medium is linked to human embryo quality and viability.
Association of FSHR, LH, LHR, BMP15, GDF9, AMH, and AMHR polymorphisms with poor ovarian response in patients undergoing in vitro fertilization.
Title: Association of FSHR, LH, LHR, BMP15, GDF9, AMH, and AMHR polymorphisms with poor ovarian response in patients undergoing in vitro fertilization.
A homozygous truncating variant in GDF9 in siblings with primary ovarian insufficiency.
Title: A homozygous truncating variant in GDF9 in siblings with primary ovarian insufficiency.
New insights into the GDF9-Hedgehog-GLI signaling pathway in human ovaries: from fetus to postmenopause.
Title: New insights into the GDF9-Hedgehog-GLI signaling pathway in human ovaries: from fetus to postmenopause.
Age-related decline in the expression of GDF9 and BMP15 genes in follicle fluid and granulosa cells derived from poor ovarian responders.
Title: Age-related decline in the expression of GDF9 and BMP15 genes in follicle fluid and granulosa cells derived from poor ovarian responders.
Growth differentiation factor 9 inhibits vascular endothelial growth factor expression in human granulosa cells.
Title: Growth differentiation factor 9 inhibits vascular endothelial growth factor expression in human granulosa cells.

Submit: New GeneRIF Correction See all GeneRIFs (79)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Premature ovarian failure 14 MedGen: C4693941 OMIM: 618014 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

REN72000 (e-PCR)
- UniSTS:396800

REN72001 (e-PCR)
- UniSTS:396801

REN72002 (e-PCR)
- UniSTS:396802

REN72003 (e-PCR)
- UniSTS:396803

REN72004 (e-PCR)
- UniSTS:396804

REN72005 (e-PCR)
- UniSTS:396805

REN72006 (e-PCR)
- UniSTS:396806

REN72007 (e-PCR)
- UniSTS:396807

REN72008 (e-PCR)
- UniSTS:396808

REN72009 (e-PCR)
- UniSTS:396809

REN72010 (e-PCR)
- UniSTS:396810

REN72011 (e-PCR)
- UniSTS:396811

REN72012 (e-PCR)
- UniSTS:396812

REN72013 (e-PCR)
- UniSTS:396813

REN72014 (e-PCR)
- UniSTS:396814

WI-21813 (e-PCR)
- UniSTS:43545

ECD05970 (e-PCR)
- UniSTS:287032

ECD03404 (e-PCR)
- UniSTS:284488

ECD03168 (e-PCR)
- UniSTS:284255

ECD03951 (e-PCR)
- UniSTS:285031

ECD06333 (e-PCR)
- UniSTS:287395

NoName (e-PCR)
- UniSTS:481706

ECD21257 (e-PCR)
- UniSTS:302254

GDF9_V237 (e-PCR)
- UniSTS:477416

REN71988 (e-PCR)
- UniSTS:396788

REN71989 (e-PCR)
- UniSTS:396789

REN71990 (e-PCR)
- UniSTS:396790

REN71991 (e-PCR)
- UniSTS:396791

REN71992 (e-PCR)
- UniSTS:396792

REN71993 (e-PCR)
- UniSTS:396793

REN71994 (e-PCR)
- UniSTS:396794

REN71995 (e-PCR)
- UniSTS:396795

REN71996 (e-PCR)
- UniSTS:396796

REN71997 (e-PCR)
- UniSTS:396797

REN71998 (e-PCR)
- UniSTS:396798

REN71999 (e-PCR)
- UniSTS:396799

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytokine activity	IBA Inferred from Biological aspect of Ancestor more info
enables growth factor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in female gamete generation	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of cell growth	IEA Inferred from Electronic Annotation more info
involved_in oocyte growth	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of progesterone secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of progesterone secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transforming growth factor beta receptor signaling pathway	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: growth/differentiation factor 9

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_047051.1 RefSeqGene

Range

5416..10700

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001288824.4 → NP_001275753.1 growth/differentiation factor 9 isoform 2

See identical proteins and their annotated locations for NP_001275753.1

Status: REVIEWED

Source sequence(s)

AC004500

Consensus CDS

CCDS75299.1

UniProtKB/TrEMBL

A0A8I5KUL2, B4DXG3

Related

ENSP00000485037.1, ENST00000624492.4

Conserved Domains (1) summary

pfam00019
Location:263 → 365

TGF_beta; Transforming growth factor beta like domain
NM_001288825.4 → NP_001275754.1 growth/differentiation factor 9 isoform 2

See identical proteins and their annotated locations for NP_001275754.1

Status: REVIEWED

Source sequence(s)

AC004500

Consensus CDS

CCDS75299.1

UniProtKB/TrEMBL

A0A8I5KUL2, B4DXG3

Conserved Domains (1) summary

pfam00019
Location:263 → 365

TGF_beta; Transforming growth factor beta like domain
NM_001288826.3 → NP_001275755.1 growth/differentiation factor 9 isoform 2

See identical proteins and their annotated locations for NP_001275755.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) contains two alternate exons in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1. Variants 2, 3, 4, 5, and 6 encode the same isoform (2).

Source sequence(s)

AC004500, AK301962, HY015857, HY211060

Consensus CDS

CCDS75299.1

UniProtKB/TrEMBL

A0A8I5KUL2, B4DXG3

Related

ENSP00000485231.1, ENST00000624495.4

Conserved Domains (1) summary

pfam00019
Location:263 → 365

TGF_beta; Transforming growth factor beta like domain
NM_001288827.3 → NP_001275756.1 growth/differentiation factor 9 isoform 2

See identical proteins and their annotated locations for NP_001275756.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) contains two alternate exons in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1. Variants 2, 3, 4, 5, and 6 encode the same isoform (2).

Source sequence(s)

AK301962, HY045713, HY211060

Consensus CDS

CCDS75299.1

UniProtKB/TrEMBL

A0A8I5KUL2, B4DXG3

Conserved Domains (1) summary

pfam00019
Location:263 → 365

TGF_beta; Transforming growth factor beta like domain
NM_001288828.3 → NP_001275757.1 growth/differentiation factor 9 isoform 2

See identical proteins and their annotated locations for NP_001275757.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) contains two alternate exons in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1. Variants 2, 3, 4, 5, and 6 encode the same isoform (2).

Source sequence(s)

AK301962, HY015857, HY211060

Consensus CDS

CCDS75299.1

UniProtKB/TrEMBL

A0A8I5KUL2, B4DXG3

Conserved Domains (1) summary

pfam00019
Location:263 → 365

TGF_beta; Transforming growth factor beta like domain
NM_005260.7 → NP_005251.1 growth/differentiation factor 9 isoform 1 preproprotein

See identical proteins and their annotated locations for NP_005251.1

Status: REVIEWED

Source sequence(s)

AC004500

Consensus CDS

CCDS4162.1

UniProtKB/Swiss-Prot

O60383, Q4VAW5

Related

ENSP00000510441.1, ENST00000687138.1

Conserved Domains (1) summary

pfam00019
Location:353 → 453

TGF_beta; Transforming growth factor beta like domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

132861185..132866651 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011543310.2 → XP_011541612.1 growth/differentiation factor 9 isoform X2

See identical proteins and their annotated locations for XP_011541612.1

UniProtKB/TrEMBL

A0A8I5KUL2, B4DXG3

Conserved Domains (1) summary

pfam00019
Location:263 → 365

TGF_beta; Transforming growth factor beta like domain
XM_047417094.1 → XP_047273050.1 growth/differentiation factor 9 isoform X1

UniProtKB/Swiss-Prot

O60383, Q4VAW5
XM_011543309.2 → XP_011541611.1 growth/differentiation factor 9 isoform X2

See identical proteins and their annotated locations for XP_011541611.1

UniProtKB/TrEMBL

A0A8I5KUL2, B4DXG3

Conserved Domains (1) summary

pfam00019
Location:263 → 365

TGF_beta; Transforming growth factor beta like domain
XM_011543311.4 → XP_011541613.1 growth/differentiation factor 9 isoform X3

Conserved Domains (1) summary

pfam00019
Location:173 → 275

TGF_beta; Transforming growth factor beta like domain
XM_005271957.6 → XP_005272014.1 growth/differentiation factor 9 isoform X2

See identical proteins and their annotated locations for XP_005272014.1

UniProtKB/TrEMBL

A0A8I5KUL2, B4DXG3

Related

ENSP00000296875.3, ENST00000296875.4

Conserved Domains (1) summary

pfam00019
Location:263 → 365

TGF_beta; Transforming growth factor beta like domain
XM_011543308.4 → XP_011541610.1 growth/differentiation factor 9 isoform X1

See identical proteins and their annotated locations for XP_011541610.1

UniProtKB/Swiss-Prot

O60383, Q4VAW5

Related

ENSP00000509893.1, ENST00000464378.2

Conserved Domains (1) summary

pfam00019
Location:353 → 453

TGF_beta; Transforming growth factor beta like domain

Alternate T2T-CHM13v2.0

Genomic

NC_060929.1 Alternate T2T-CHM13v2.0

Range

133380938..133386405 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054352362.1 → XP_054208337.1 growth/differentiation factor 9 isoform X2

UniProtKB/TrEMBL

B4DXG3
XM_054352359.1 → XP_054208334.1 growth/differentiation factor 9 isoform X1

UniProtKB/Swiss-Prot

O60383, Q4VAW5
XM_054352361.1 → XP_054208336.1 growth/differentiation factor 9 isoform X2

UniProtKB/TrEMBL

B4DXG3
XM_054352363.1 → XP_054208338.1 growth/differentiation factor 9 isoform X3
XM_054352360.1 → XP_054208335.1 growth/differentiation factor 9 isoform X2

UniProtKB/TrEMBL

B4DXG3
XM_054352358.1 → XP_054208333.1 growth/differentiation factor 9 isoform X1

UniProtKB/Swiss-Prot

O60383, Q4VAW5