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

Gene ID: 2661, updated on 12-Mar-2019

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
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

Genomic context

See GDF9 in Genome Data Viewer
Location:
5q31.1
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (132861181..132866884, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (132196877..132202238, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene RNA, U7 small nuclear 15 pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 192 Neighboring gene ubiquinol-cytochrome c reductase complex III subunit VII Neighboring gene liver enriched antimicrobial peptide 2 Neighboring gene AF4/FMR2 family member 4 Neighboring gene eukaryotic translation elongation factor 1 alpha 2 pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Ovarian Infertility Genes, organism-specific biosystem (from WikiPathways)
    Ovarian Infertility Genes, organism-specific biosystemOvarian bottleneck genes associated with infertility. A valuable approach to the study of infertility is the comparison of mutations of individual human and mouse genes associated with infertility ph...
  • Ovarian steroidogenesis, organism-specific biosystem (from KEGG)
    Ovarian steroidogenesis, organism-specific biosystemThe ovarian steroids, 17-beta estradiol (E2) and progesterone (P4), are critical for normal uterine function, establishment and maintenance of pregnancy, and mammary gland development. Furthermore, t...
  • Ovarian steroidogenesis, conserved biosystem (from KEGG)
    Ovarian steroidogenesis, conserved biosystemThe ovarian steroids, 17-beta estradiol (E2) and progesterone (P4), are critical for normal uterine function, establishment and maintenance of pregnancy, and mammary gland development. Furthermore, t...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytokine activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
growth factor activity IEA
Inferred from Electronic Annotation
more info
 
transforming growth factor beta receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
BMP signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SMAD protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
female gamete generation TAS
Traceable Author Statement
more info
PubMed 
negative regulation of cell growth IEA
Inferred from Electronic Annotation
more info
 
oocyte growth IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of pathway-restricted SMAD protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of MAPK cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of progesterone secretion IDA
Inferred from Direct Assay
more info
PubMed 
regulation of progesterone secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of signaling receptor activity IEA
Inferred from Electronic Annotation
more info
 
transforming growth factor beta receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
growth/differentiation factor 9

NCBI Reference Sequences (RefSeq)

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
    5001..10704
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_001275753.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon 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)
    AA604716, AK315973, BC096228, HY211060
    Consensus CDS
    CCDS75299.1
    UniProtKB/Swiss-Prot
    O60383
    UniProtKB/TrEMBL
    B4DXG3
    Related
    ENSP00000485037.1, ENST00000624492.3
    Conserved Domains (1) summary
    pfam00019
    Location:263365
    TGF_beta; Transforming growth factor beta like domain
  2. NM_001288825.2NP_001275754.1  growth/differentiation factor 9 isoform 2

    See identical proteins and their annotated locations for NP_001275754.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) 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)
    AA604716, AK301962, AK315973, HY042819, HY211060
    Consensus CDS
    CCDS75299.1
    UniProtKB/TrEMBL
    B4DXG3
    Related
    ENSP00000484339.1, ENST00000621295.4
    Conserved Domains (1) summary
    pfam00019
    Location:263365
    TGF_beta; Transforming growth factor beta like domain
  3. NM_001288826.2NP_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)
    AA604716, AC004500, AK301962, HY015857, HY211060
    Consensus CDS
    CCDS75299.1
    UniProtKB/TrEMBL
    B4DXG3
    Related
    ENSP00000485231.1, ENST00000624495.3
    Conserved Domains (1) summary
    pfam00019
    Location:263365
    TGF_beta; Transforming growth factor beta like domain
  4. NM_001288827.2NP_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)
    AA604716, AK301962, HY045713, HY211060
    Consensus CDS
    CCDS75299.1
    UniProtKB/TrEMBL
    B4DXG3
    Related
    ENSP00000296875.3, ENST00000296875.3
    Conserved Domains (1) summary
    pfam00019
    Location:263365
    TGF_beta; Transforming growth factor beta like domain
  5. NM_001288828.2NP_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)
    AA604716, AK301962, HY015857, HY211060
    Consensus CDS
    CCDS75299.1
    UniProtKB/TrEMBL
    B4DXG3
    Conserved Domains (1) summary
    pfam00019
    Location:263365
    TGF_beta; Transforming growth factor beta like domain
  6. NM_005260.5NP_005251.1  growth/differentiation factor 9 isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_005251.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AA604716, AC004500, BC096231, CA488820, DB320693
    Consensus CDS
    CCDS4162.1
    UniProtKB/Swiss-Prot
    O60383
    Related
    ENSP00000367942.2, ENST00000378673.2
    Conserved Domains (1) summary
    pfam00019
    Location:353453
    TGF_beta; Transforming growth factor beta like domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    132861181..132866884 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for XP_011541612.1

    UniProtKB/TrEMBL
    B4DXG3
    Conserved Domains (1) summary
    pfam00019
    Location:263365
    TGF_beta; Transforming growth factor beta like domain
  2. XM_011543309.1XP_011541611.1  growth/differentiation factor 9 isoform X2

    See identical proteins and their annotated locations for XP_011541611.1

    UniProtKB/TrEMBL
    B4DXG3
    Conserved Domains (1) summary
    pfam00019
    Location:263365
    TGF_beta; Transforming growth factor beta like domain
  3. XM_011543308.3XP_011541610.1  growth/differentiation factor 9 isoform X1

    See identical proteins and their annotated locations for XP_011541610.1

    UniProtKB/Swiss-Prot
    O60383
    Conserved Domains (1) summary
    pfam00019
    Location:353453
    TGF_beta; Transforming growth factor beta like domain
  4. XM_006714585.4XP_006714648.1  growth/differentiation factor 9 isoform X2

    See identical proteins and their annotated locations for XP_006714648.1

    UniProtKB/TrEMBL
    B4DXG3
    Conserved Domains (1) summary
    pfam00019
    Location:263365
    TGF_beta; Transforming growth factor beta like domain
  5. XM_005271957.5XP_005272014.1  growth/differentiation factor 9 isoform X2

    See identical proteins and their annotated locations for XP_005272014.1

    UniProtKB/TrEMBL
    B4DXG3
    Conserved Domains (1) summary
    pfam00019
    Location:263365
    TGF_beta; Transforming growth factor beta like domain
  6. XM_011543311.3XP_011541613.1  growth/differentiation factor 9 isoform X3

    Conserved Domains (1) summary
    pfam00019
    Location:173275
    TGF_beta; Transforming growth factor beta like domain
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