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

    Gene ID: 2661, updated on 27-May-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
    mouse all
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    Genomic context

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    See GDF9 in Genome Data Viewer
    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. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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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    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
    		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)

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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