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    GDF11 growth differentiation factor 11 [ Homo sapiens (human) ]

    Gene ID: 10220, updated on 5-Aug-2018

    Summary

    Official Symbol
    GDF11provided by HGNC
    Official Full Name
    growth differentiation factor 11provided by HGNC
    Primary source
    HGNC:HGNC:4216
    See related
    Ensembl:ENSG00000135414 MIM:603936; Vega:OTTHUMG00000170188
    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
    BMP11; BMP-11
    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 plays a role in the development of the nervous and other organ systems, and may regulate aging. [provided by RefSeq, Aug 2016]
    Expression
    Ubiquitous expression in brain (RPKM 8.1), endometrium (RPKM 6.4) and 24 other tissues See more
    Orthologs

    Genomic context

    See GDF11 in Genome Data Viewer
    Location:
    12q13.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (55743278..55757194)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56137064..56146665)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene BLOC1S1-RDH5 readthrough Neighboring gene uncharacterized LOC105369779 Neighboring gene retinol dehydrogenase 5 Neighboring gene CD63 molecule Neighboring gene SAP domain containing ribonucleoprotein Neighboring gene ORMDL sphingolipid biosynthesis regulator 2 Neighboring gene DnaJ heat shock protein family (Hsp40) member C14 Neighboring gene transmembrane protein 198B (pseudogene) Neighboring gene matrix metallopeptidase 19

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transforming growth factor beta receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    SMAD protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    SMAD protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    camera-type eye morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    cell development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell maturation IEA
    Inferred from Electronic Annotation
    more info
     
    mesoderm development TAS
    Traceable Author Statement
    more info
    PubMed 
    metanephros development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    pancreas development IEA
    Inferred from Electronic Annotation
    more info
     
    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 signaling receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    roof of mouth development IEA
    Inferred from Electronic Annotation
    more info
     
    skeletal system development TAS
    Traceable Author Statement
    more info
    PubMed 
    spinal cord anterior/posterior patterning IEA
    Inferred from Electronic Annotation
    more info
     
    ureteric bud development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cellular_component ND
    No biological Data available
    more info
     
    extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    growth/differentiation factor 11
    Names
    GDF-11
    bone morphogenetic protein 11

    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.

    mRNA and Protein(s)

    1. NM_005811.4NP_005802.1  growth/differentiation factor 11 preproprotein

      See identical proteins and their annotated locations for NP_005802.1

      Status: REVIEWED

      Source sequence(s)
      AC073487, AF100907, BU620213
      Consensus CDS
      CCDS8891.1
      UniProtKB/Swiss-Prot
      O95390
      UniProtKB/TrEMBL
      A0A024RB20
      Related
      ENSP00000257868.5, OTTHUMP00000243162, ENST00000257868.9, OTTHUMT00000407842
      Conserved Domains (2) summary
      smart00204
      Location:313407
      TGFB; Transforming growth factor-beta (TGF-beta) family
      pfam00688
      Location:61285
      TGFb_propeptide; TGF-beta propeptide

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

      Range
      55743278..55757194
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006719194.3XP_006719257.1  growth/differentiation factor 11 isoform X1

      See identical proteins and their annotated locations for XP_006719257.1

      UniProtKB/Swiss-Prot
      O95390
      UniProtKB/TrEMBL
      A0A024RB20
      Related
      ENSP00000448390.1, OTTHUMP00000243217, ENST00000546799.1, OTTHUMT00000407932
      Conserved Domains (2) summary
      smart00204
      Location:313407
      TGFB; Transforming growth factor-beta (TGF-beta) family
      pfam00688
      Location:61285
      TGFb_propeptide; TGF-beta propeptide
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