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

Gene ID: 2661, updated on 3-Apr-2024

Summary

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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
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Genomic context

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Location:
5q31.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (132861185..132866651, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (133380938..133386405, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (132196877..132202343, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene U7 small nuclear RNA Neighboring gene RNA, U7 small nuclear 15 pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 192 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:132201613-132202812 Neighboring gene ubiquinol-cytochrome c reductase complex III subunit VII Neighboring gene liver enriched antimicrobial peptide 2 Neighboring gene ALF transcription elongation factor 4 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 50

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: 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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Related articles in PubMed

  1. GDF9 concentration in embryo culture medium is linked to human embryo quality and viability. Li J, et al. J Assist Reprod Genet, 2022 Jan. PMID 34845575, Free PMC Article
  2. A homozygous truncating variant in GDF9 in siblings with primary ovarian insufficiency. Verma KP, et al. J Assist Reprod Genet, 2021 Jun. PMID 33797006, Free PMC Article
  3. Association of FSHR, LH, LHR, BMP15, GDF9, AMH, and AMHR polymorphisms with poor ovarian response in patients undergoing in vitro fertilization. Meireles AJC, et al. JBRA Assist Reprod, 2021 Jul 21. PMID 33739800, Free PMC Article
  4. A variant of human growth differentiation factor-9 that improves oocyte developmental competence. Stocker WA, et al. J Biol Chem, 2020 Jun 5. PMID 32350111, Free PMC Article
  5. Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing. França MM, et al. Clin Genet, 2018 Feb. PMID 29044499

See all (110) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. A variant of human growth differentiation factor-9 that improves oocyte developmental competence.
    Title: A variant of human growth differentiation factor-9 that improves oocyte developmental competence.
Submit: New GeneRIF Correction See all GeneRIFs (78)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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

  1. NG_047051.1 RefSeqGene

    Range
    5416..10700
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    132861185..132866651 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. XM_047417094.1 → XP_047273050.1  growth/differentiation factor 9 isoform X1

    UniProtKB/Swiss-Prot
    O60383, Q4VAW5

  3. 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

  4. 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

  5. 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

  6. 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

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    133380938..133386405 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    B4DXG3

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

    UniProtKB/Swiss-Prot
    O60383, Q4VAW5

  3. XM_054352361.1 → XP_054208336.1  growth/differentiation factor 9 isoform X2

    UniProtKB/TrEMBL
    B4DXG3

  4. XM_054352363.1 → XP_054208338.1  growth/differentiation factor 9 isoform X3

  5. XM_054352360.1 → XP_054208335.1  growth/differentiation factor 9 isoform X2

    UniProtKB/TrEMBL
    B4DXG3

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

    UniProtKB/Swiss-Prot
    O60383, Q4VAW5
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O60383.1 GenPept UniProtKB/Swiss-Prot:O60383

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