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

Gene ID: 10220, updated on 8-Apr-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
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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 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

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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

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