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

    Gene ID: 10220, updated on 20-Feb-2024

    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; AllianceGenome:HGNC:4216
    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
    VHO; 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
    NEW
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    Try the new Transcript table

    Genomic context

    See GDF11 in Genome Data Viewer
    Location:
    12q13.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (55743122..55757264)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (55709757..55723906)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56136906..56151048)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene BLOC1S1-RDH5 readthrough Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:56114612-56115240 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4535 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:56122619-56123225 Neighboring gene retinol dehydrogenase 5 Neighboring gene CD63 antisense RNA 1 Neighboring gene CD63 molecule Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6459 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4537 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56140299-56140802 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr12:56140803-56141306 Neighboring gene SAP domain containing ribonucleoprotein Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:56192003-56192504 Neighboring gene ORMDL sphingolipid biosynthesis regulator 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4538 Neighboring gene DnaJ heat shock protein family (Hsp40) member C14 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56223947-56224684 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6460 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 Apr 4 07:08:55 2018

    Bibliography

    Related articles in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in SMAD protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in amacrine cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in camera-type eye morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mesoderm development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in metanephros development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of amacrine cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in roof of mouth development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skeletal system development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in spinal cord anterior/posterior patterning IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in type B pancreatic cell maturation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ureteric bud development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    part_of 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)

    NEW Try the new Transcript table

    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_005811.5NP_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, Q9UID1, Q9UID2
      UniProtKB/TrEMBL
      H0YI30
      Related
      ENSP00000257868.5, ENST00000257868.10
      Conserved Domains (2) summary
      pfam00688
      Location:61285
      TGFb_propeptide; TGF-beta propeptide
      cd19388
      Location:301407
      TGF_beta_GDF8; transforming growth factor beta (TGF-beta) like domain found in growth/differentiation factor 8 (GDF8) and similar proteins

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      55743122..55757264
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006719194.4XP_006719257.1  growth/differentiation factor 11 isoform X1

      See identical proteins and their annotated locations for XP_006719257.1

      UniProtKB/Swiss-Prot
      O95390, Q9UID1, Q9UID2
      UniProtKB/TrEMBL
      H0YI30
      Related
      ENSP00000448390.1, ENST00000546799.1
      Conserved Domains (2) summary
      pfam00688
      Location:61285
      TGFb_propeptide; TGF-beta propeptide
      cd19388
      Location:301407
      TGF_beta_GDF8; transforming growth factor beta (TGF-beta) like domain found in growth/differentiation factor 8 (GDF8) and similar proteins

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      55709757..55723906
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370764.1XP_054226739.1  growth/differentiation factor 11 isoform X1

      UniProtKB/Swiss-Prot
      O95390, Q9UID1, Q9UID2
      UniProtKB/TrEMBL
      H0YI30