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

    Gene ID: 10220, updated on 2-May-2024

    Summary

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    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
    mouse all
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    Genomic context

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    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

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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. The role of GDF11 during inflammation - An overview. Machelak W, et al. Life Sci, 2023 Jun 1. PMID 37011872
    2. The hepatic effects of GDF11 on health and disease. Gerardo-Ramírez M, et al. Biochimie, 2023 May. PMID 36584866
    3. Pathophysiological levels of GDF11 activate Smad2/Smad3 signaling and induce muscle atrophy in human iPSC-derived myocytes. Honda M, et al. Am J Physiol Cell Physiol, 2022 Nov 1. PMID 36094432
    4. GDF11 Is a Novel Protective Factor Against Vascular Calcification. Sheng Y, et al. J Cardiovasc Pharmacol, 2022 Dec 1. PMID 36027600
    5. Longitudinal Relationship Between Growth Differentiation Factor 11 and Physical Activity in Chronic Obstructive Pulmonary Disease. Tanaka R, et al. Int J Chron Obstruct Pulmon Dis, 2021. PMID 33883893, Free PMC Article

    See all (83) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Growth differentiation factor-11 upregulates matrix metalloproteinase 2 expression by inducing Snail in human extravillous trophoblast cells.
      Title: Growth differentiation factor-11 upregulates matrix metalloproteinase 2 expression by inducing Snail in human extravillous trophoblast cells.
    2. Oncogenic miR-106b-5p promotes cisplatin resistance in triple-negative breast cancer by targeting GDF11.
      Title: Oncogenic miR-106b-5p promotes cisplatin resistance in triple-negative breast cancer by targeting GDF11.
    3. The regulatory effect of growth differentiation factor 11 on different cells.
      Title: The regulatory effect of growth differentiation factor 11 on different cells.
    4. Circulating GDF11 exacerbates myocardial injury in mice and associates with increased infarct size in humans.
      Title: Circulating GDF11 exacerbates myocardial injury in mice and associates with increased infarct size in humans.
    5. Mutual regulation between GDF11 and TET2 prevents senescence of mesenchymal stem cells.
      Title: Mutual regulation between GDF11 and TET2 prevents senescence of mesenchymal stem cells.
    6. GDF11 as a friend or an enemy in the cancer biology?
      Title: GDF11 as a friend or an enemy in the cancer biology?
    7. GDF-11 downregulates placental human chorionic gonadotropin expression by activating SMAD2/3 signaling.
      Title: GDF-11 downregulates placental human chorionic gonadotropin expression by activating SMAD2/3 signaling.
    8. The hepatic effects of GDF11 on health and disease.
      Title: The hepatic effects of GDF11 on health and disease.
    9. The role of GDF11 during inflammation - An overview.
      Title: The role of GDF11 during inflammation - An overview.
    10. GDF11 Is a Novel Protective Factor Against Vascular Calcification.
      Title: GDF11 Is a Novel Protective Factor Against Vascular Calcification.
    Submit: New GeneRIF Correction See all GeneRIFs (74)

    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
    Vertebral hypersegmentation and orofacial anomalies
    MedGen: C5436851 OMIM: 619122 GeneReviews: Not available
    		Compare labs

    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
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in SMAD protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in activin receptor signaling pathway 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 positive regulation of SMAD protein signal transduction IMP
    Inferred from Mutant Phenotype
    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

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

    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.

    mRNA and Protein(s)

    1. NM_005811.5 → NP_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:61 → 285
      TGFb_propeptide; TGF-beta propeptide
      cd19388
      Location:301 → 407
      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_006719194.4 → XP_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:61 → 285
      TGFb_propeptide; TGF-beta propeptide
      cd19388
      Location:301 → 407
      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_054370764.1 → XP_054226739.1  growth/differentiation factor 11 isoform X1

      UniProtKB/Swiss-Prot
      O95390, Q9UID1, Q9UID2
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95390.1 GenPept UniProtKB/Swiss-Prot:O95390

    Gene LinkOut

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

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