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    GDF3 growth differentiation factor 3 [ Homo sapiens (human) ]

    Gene ID: 9573, updated on 13-Jun-2013
    Official Symbol
    GDF3provided by HGNC
    Official Full Name
    growth differentiation factor 3provided by HGNC
    Primary source
    HGNC:4218
    Locus tag
    UNQ222/PRO248
    See related
    Ensembl:ENSG00000184344; HPRD:05938; MIM:606522; Vega:OTTHUMG00000168433
    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
    KFS3; MCOP7; MCOPCB6
    Summary
    The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. [provided by RefSeq, Jul 2008]
    Location :
    12p13.1
    Sequence :
    Chromosome: 12; NC_000012.11 (7842381..7848360, complement)
    See GDF3 in Epigenomics, MapViewer

    Chromosome 12 - NC_000012.11Genomic Context describing neighboring genes Neighboring gene clathrin, light chain A pseudogene Neighboring gene apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 Neighboring gene developmental pluripotency associated 3 Neighboring gene C-type lectin domain family 4, member C

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. Del-Aguila JL, et al. Pharmacogenomics J, 2013 Feb 12. PMID 23400010.
    2. Regulation of human growth and differentiation factor 3 gene expression by NANOG in human embryonic carcinoma NCCIT cells. Park SW, et al. FEBS Lett, 2012 Sep 21. PMID 22963770.
    3. GDF3 inhibits the growth of breast cancer cells and promotes the apoptosis induced by Taxol. Li Q, et al. J Cancer Res Clin Oncol, 2012 Jun. PMID 22488170.
    4. Growth differentiation factor 3 is induced by bone morphogenetic protein 6 (BMP-6) and BMP-7 and increases luteinizing hormone receptor messenger RNA expression in human granulosa cells. Shi J, et al. Fertil Steril, 2012 Apr. PMID 22305102.
    5. The conditioned medium from a stable human GDF3-expressing CHO cell line, induces the differentiation of PC12 cells. Li Q, et al. Mol Cell Biochem, 2012 Jan. PMID 21805089.

    See all (20) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. first evidence that NANOG is a transcriptional activator of the expression of the oncogenic growth factor GDF3 in embryonic carcinoma cells
      Title: Regulation of human growth and differentiation factor 3 gene expression by NANOG in human embryonic carcinoma NCCIT cells.
    2. GDF3 expression level was significantly down-regulated in breast cancer tissues compared to the surrounding nontumorous tissues.
      Title: GDF3 inhibits the growth of breast cancer cells and promotes the apoptosis induced by Taxol.
    3. the conditioned medium from CHO-GDF3 could reduce PC12 cell growth and induce cell differentiation
      Title: The conditioned medium from a stable human GDF3-expressing CHO cell line, induces the differentiation of PC12 cells.
    4. Growth differentiation factor 3 is induced by bone morphogenetic protein 6 (BMP-6) and BMP-7 and increases luteinizing hormone receptor messenger RNA expression in human granulosa cells.
      Title: Growth differentiation factor 3 is induced by bone morphogenetic protein 6 (BMP-6) and BMP-7 and increases luteinizing hormone receptor messenger RNA expression in human granulosa cells.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
    6. Mutation of GDF3 causes ocular and skeletal anomalies.
      Title: Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies.
    7. GDF3 positivity is helpful in the diagnosis of yolk sac tumor
      Title: Testicular mixed germ cell tumors: a morphological and immunohistochemical study using stem cell markers, OCT3/4, SOX2 and GDF3, with emphasis on morphologically difficult-to-classify areas.
    8. GDF3 is either a bi-functional TGF-beta ligand, or, more likely, that it is a BMP inhibitor that can artificially activate Nodal signaling under non-physiological conditions.
      Title: GDF3 is a BMP inhibitor that can activate Nodal signaling only at very high doses.
    9. GDF3 regulates adipose-tissue homeostasis and energy balance under nutrient overload in part by signaling through the ALK7 receptor
      Title: Growth/differentiation factor 3 signals through ALK7 and regulates accumulation of adipose tissue and diet-induced obesity.
    10. GDF3 regulates both of the two major characteristics of embryonic stem cells: the ability to maintain the undifferentiated state and the ability to differentiate into the full spectrum of cell types.
      Title: GDF3, a BMP inhibitor, regulates cell fate in stem cells and early embryos.
    Submit: New GeneRIF Correction See all (11)

    Review eQTL and phenotype association data in this region using PheGenI

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cytokine activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    growth factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    endoderm development IEA
    Inferred from Electronic Annotation
    more info
    		  
    eye development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    formation of anatomical boundary IEA
    Inferred from Electronic Annotation
    more info
    		  
    growth IEA
    Inferred from Electronic Annotation
    more info
    		  
    in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    mesoderm development IEA
    Inferred from Electronic Annotation
    more info
    		  
    notochord development IEA
    Inferred from Electronic Annotation
    more info
    		  
    primitive streak formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to dietary excess IEA
    Inferred from Electronic Annotation
    more info
    		  
    signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    somite rostral/caudal axis specification IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    extracellular space IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    growth/differentiation factor 3
    Names
    growth/differentiation factor 3
    GDF-3

    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_028167.1 RefSeqGene

      Range
      5001..10980
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_020634.1 → NP_065685.1  growth/differentiation factor 3 precursor

      Status: REVIEWED

      Source sequence(s)
      AF263538
      Consensus CDS
      CCDS8581.1
      UniProtKB/Swiss-Prot
      Q9NR23
      Related
      ENSP00000331745, OTTHUMP00000238775, ENST00000329913, OTTHUMT00000399717
      Conserved Domains (2) summary
      smart00204
      Location:264 – 364
      Blast Score: 453
      TGFB; Transforming growth factor-beta (TGF-beta) family
      pfam00688
      Location:23 – 237
      Blast Score: 276
      TGFb_propeptide; TGF-beta propeptide

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000012.11 Reference GRCh37.p10 Primary Assembly

      Range
      7842381..7848360, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000144.1 Alternate HuRef

      Range
      7656489..7662465, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018923.1 Alternate CHM1_1.0

      Range
      7725429..7731403, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01012207.1 (6763..12739) None
    genomic AC006927.27 (98258..104237) None
    genomic AMYH01004216.1 (28607..34581) None
    genomic CH471116.2 EAW88659.1
    mRNA AF110641.1 AAM27000.1
    mRNA AF263538.1 AAF91389.1
    mRNA AY358875.1 AAQ89234.1
    mRNA BC030959.1 AAH30959.1
    other-genetic DQ892661.2 ABM83587.1
    other-genetic DQ895901.2 ABM86827.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NR23.3 GenPept UniProtKB/Swiss-Prot:Q9NR23

    Gene LinkOut

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

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • BioAssay
        Related PubChem BioAssays
      • BioProjects
        BioProjects related to a gene
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • ClinVar
        Related medical variations
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • MedGen
        Related information in MedGen
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • SNP: VarView
        Related Clinical SNP
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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