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Aliases for GDF11 Gene

Aliases for GDF11 Gene

  • Growth Differentiation Factor 11 2 3 5
  • Bone Morphogenetic Protein 11 3 4
  • BMP-11 3 4
  • GDF-11 3 4
  • BMP11 3 4
  • Growth/Differentiation Factor 11 3

External Ids for GDF11 Gene

Previous GeneCards Identifiers for GDF11 Gene

  • GC12P056061
  • GC12P056210
  • GC12P055853
  • GC12P054423
  • GC12P056137
  • GC12P053175

Summaries for GDF11 Gene

Entrez Gene Summary for GDF11 Gene

  • 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]

GeneCards Summary for GDF11 Gene

GDF11 (Growth Differentiation Factor 11) is a Protein Coding gene. Diseases associated with GDF11 include Currarino Syndrome. Gene Ontology (GO) annotations related to this gene include cytokine activity and transforming growth factor beta receptor binding. An important paralog of this gene is MSTN.

UniProtKB/Swiss-Prot for GDF11 Gene

  • Secreted signal that acts globally to specify positional identity along the anterior/posterior axis during development. May play critical roles in patterning both mesodermal and neural tissues and in establishing the skeletal pattern (By similarity). Signals through activin receptors type-2, ACVR2A and ACVR2B, and activin receptors type-1, ACVR1B, ACVR1C and TGFBR1 leading to the phosphorylation of SMAD2 and SMAD3 (PubMed:28257634).

Gene Wiki entry for GDF11 Gene

Additional gene information for GDF11 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GDF11 Gene

Genomics for GDF11 Gene

GeneHancer (GH) Regulatory Elements for GDF11 Gene

Promoters and enhancers for GDF11 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I055742 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.1 1148 4.6 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A FEZF1 YBX1 ZNF2 ZBTB7B GDF11 BAZ2A DNAJC14 MMP19 RN7SL809P CDK2 ZC3H10 TMEM198B ORMDL2 RNU6-343P
GH12I056040 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 22.7 +298.7 298721 3.3 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 RPS26 LOC105369780 BAZ2A RN7SL809P STAT2 PAN2 ENSG00000258199 ZC3H10 CDK2 ENSG00000257740
GH12I056187 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 13 +446.2 446178 3.5 MLX DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 ZNF610 ENSG00000258199 SMARCC2 GC12P056192 TRS-CGA4-1 NEMP1 ENSG00000257740 IKZF4 ANKRD52 PHC1P1 BAZ2A
GH12I055970 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 13 +229.7 229659 5.1 ZFP64 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC ZNF610 PMEL RAB5B BAZ2A DNAJC14 ZC3H10 ENSG00000258199 ENSG00000258317 TMEM198B CDK2 ENSG00000257740
GH12I056220 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.5 +479.6 479604 5.7 CLOCK MLX ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF213 E2F8 NABP2 RNF41 NEMP1 BAZ2A PAN2 DNAJC14 ANKRD52 PHC1P1 ZBTB39 RN7SL809P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GDF11 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GDF11 gene promoter:

Genomic Locations for GDF11 Gene

Genomic Locations for GDF11 Gene
chr12:55,743,278-55,757,466
(GRCh38/hg38)
Size:
14,189 bases
Orientation:
Plus strand
chr12:56,137,064-56,150,911
(GRCh37/hg19)

Genomic View for GDF11 Gene

Genes around GDF11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GDF11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GDF11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GDF11 Gene

Proteins for GDF11 Gene

  • Protein details for GDF11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95390-GDF11_HUMAN
    Recommended name:
    Growth/differentiation factor 11
    Protein Accession:
    O95390
    Secondary Accessions:
    • Q9UID1
    • Q9UID2

    Protein attributes for GDF11 Gene

    Size:
    407 amino acids
    Molecular mass:
    45091 Da
    Quaternary structure:
    • Homodimer; disulfide-linked (PubMed:26919518). Interacts directly with ACVR2B (By similarity). Interacts directly with ACVR2A (By similarity). Interacts with ACVR1B, TGFBR1 and ACVR1C in an ACVR2B-dependent manner (By similarity). Interacts with FST isoform 2/FS-288 (PubMed:28257634).

    Three dimensional structures from OCA and Proteopedia for GDF11 Gene

neXtProt entry for GDF11 Gene

Post-translational modifications for GDF11 Gene

  • Synthesized as large precursor molecule that undergoes proteolytic cleavage. The mature C-terminal portion of the molecule is bound non-covalently to its N-terminal propeptide rendering it inactive. Ligand activation requires additional cleavage of the prodomain by a tolloid-like metalloproteinase.
  • Glycosylation at isoforms=94
  • Modification sites at PhosphoSitePlus

Other Protein References for GDF11 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for GDF11

No data available for DME Specific Peptides for GDF11 Gene

Domains & Families for GDF11 Gene

Gene Families for GDF11 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for GDF11 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95390

UniProtKB/Swiss-Prot:

GDF11_HUMAN :
  • Belongs to the TGF-beta family.
Family:
  • Belongs to the TGF-beta family.
genes like me logo Genes that share domains with GDF11: view

Function for GDF11 Gene

Molecular function for GDF11 Gene

UniProtKB/Swiss-Prot Function:
Secreted signal that acts globally to specify positional identity along the anterior/posterior axis during development. May play critical roles in patterning both mesodermal and neural tissues and in establishing the skeletal pattern (By similarity). Signals through activin receptors type-2, ACVR2A and ACVR2B, and activin receptors type-1, ACVR1B, ACVR1C and TGFBR1 leading to the phosphorylation of SMAD2 and SMAD3 (PubMed:28257634).

LifeMap Function Summary for GDF11 Gene

During embryonic development, GDF11 as signaling molecule is secreted from the following cells
It affects the following cells:

Phenotypes From GWAS Catalog for GDF11 Gene

Gene Ontology (GO) - Molecular Function for GDF11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005125 cytokine activity IBA --
GO:0005160 transforming growth factor beta receptor binding IBA --
GO:0005515 protein binding IPI 18596030
GO:0008083 growth factor activity IEA --
genes like me logo Genes that share ontologies with GDF11: view
genes like me logo Genes that share phenotypes with GDF11: view

Animal Models for GDF11 Gene

MGI Knock Outs for GDF11:

miRNA for GDF11 Gene

miRTarBase miRNAs that target GDF11

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GDF11 Gene

Localization for GDF11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GDF11 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GDF11 gene
Compartment Confidence
extracellular 5
nucleus 4
plasma membrane 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GDF11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA --
GO:0005654 nucleoplasm IDA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with GDF11: view

Pathways & Interactions for GDF11 Gene

SuperPathways for GDF11 Gene

No Data Available

SIGNOR curated interactions for GDF11 Gene

Activates:

Gene Ontology (GO) - Biological Process for GDF11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 10391213
GO:0001656 metanephros development IEA --
GO:0001657 ureteric bud development IEA --
GO:0007399 nervous system development TAS 10075854
GO:0007498 mesoderm development TAS 10075854
genes like me logo Genes that share ontologies with GDF11: view

No data available for Pathways by source for GDF11 Gene

Drugs & Compounds for GDF11 Gene

No Compound Related Data Available

Transcripts for GDF11 Gene

mRNA/cDNA for GDF11 Gene

(2) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(191) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GDF11 Gene

Growth differentiation factor 11:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GDF11 Gene

No ASD Table

Relevant External Links for GDF11 Gene

GeneLoc Exon Structure for
GDF11
ECgene alternative splicing isoforms for
GDF11

Expression for GDF11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GDF11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GDF11 Gene

This gene is overexpressed in Bone (67.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GDF11 Gene



Protein tissue co-expression partners for GDF11 Gene

NURSA nuclear receptor signaling pathways regulating expression of GDF11 Gene:

GDF11

SOURCE GeneReport for Unigene cluster for GDF11 Gene:

Hs.600883

Evidence on tissue expression from TISSUES for GDF11 Gene

  • Nervous system(4.5)
  • Heart(2.5)
  • Muscle(2.4)
genes like me logo Genes that share expression patterns with GDF11: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GDF11 Gene

Orthologs for GDF11 Gene

This gene was present in the common ancestor of animals.

Orthologs for GDF11 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GDF11 33 34
  • 100 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GDF11 34
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GDF11 33 34
  • 94.22 (n)
mouse
(Mus musculus)
Mammalia Gdf11 16 34 33
  • 94 (n)
rat
(Rattus norvegicus)
Mammalia Gdf11 33
  • 93.26 (n)
dog
(Canis familiaris)
Mammalia GDF11 34
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GDF11 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gdf11 33
  • 76.8 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13638 33
zebrafish
(Danio rerio)
Actinopterygii gdf11 34 33
  • 73.98 (n)
OneToOne
gdf8 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.119 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005289 33
  • 64.26 (n)
fruit fly
(Drosophila melanogaster)
Insecta myo 34
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea daf-7 33
  • 43.3 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 27 (a)
OneToMany
Species where no ortholog for GDF11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GDF11 Gene

ENSEMBL:
Gene Tree for GDF11 (if available)
TreeFam:
Gene Tree for GDF11 (if available)

Paralogs for GDF11 Gene

(2) SIMAP similar genes for GDF11 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with GDF11: view

Variants for GDF11 Gene

Sequence variations from dbSNP and Humsavar for GDF11 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000010996 -- 55,753,097(+) C/T downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1000013356 -- 55,756,738(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000081416 -- 55,742,227(+) C/A upstream_transcript_variant
rs1000257431 -- 55,749,304(+) T/C intron_variant
rs1000297436 -- 55,753,558(+) T/G genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GDF11 Gene

Variant ID Type Subtype PubMed ID
nsv1070113 CNV deletion 25765185
nsv469410 CNV loss 19166990
nsv559004 CNV loss 21841781
nsv832423 CNV gain 17160897
nsv952185 CNV deletion 24416366

Variation tolerance for GDF11 Gene

Residual Variation Intolerance Score: 29.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.45; 9.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GDF11 Gene

Human Gene Mutation Database (HGMD)
GDF11
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GDF11

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GDF11 Gene

Disorders for GDF11 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GDF11 Gene - From: HGMD and GeneCards

Disorder Aliases PubMed IDs
currarino syndrome
  • currarino triad
- elite association - COSMIC cancer census association via MalaCards
Search GDF11 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GDF11

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GDF11: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GDF11 Gene

Publications for GDF11 Gene

  1. GDF11 forms a bone morphogenetic protein 1-activated latent complex that can modulate nerve growth factor-induced differentiation of PC12 cells. (PMID: 15988002) Ge G … Greenspan DS (Molecular and cellular biology 2005) 2 3 22 58
  2. Structural basis for potency differences between GDF8 and GDF11. (PMID: 28257634) Walker RG … Thompson TB (BMC biology 2017) 3 4 58
  3. Crystal structure of human GDF11. (PMID: 26919518) Padyana AK … Farrow NA (Acta crystallographica. Section F, Structural biology communications 2016) 3 4 58
  4. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C … Hunter DJ (Human genetics 2010) 3 44 58
  5. Clinical significance of growth differentiation factor 11 in colorectal cancer. (PMID: 17912435) Yokoe T … Mori M (International journal of oncology 2007) 3 22 58

Products for GDF11 Gene

Sources for GDF11 Gene

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