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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GDF11 Gene

protein-coding   GIFtS: 55
GCID: GC12P056137

growth differentiation factor 11
 Explore 6 diseases affiliated with
GDF11 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for GDF11    

Aliases
for GDF11 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Growth Differentiation Factor 111 2
BMP-111 2 3
BMP112 3 5
Bone Morphogenetic Protein 112 3
GDF-112 3
Growth/Differentiation Factor 112

External Ids:    HGNC: 42161   Entrez Gene: 102202   Ensembl: ENSG000001354147   OMIM: 6039365   UniProtKB: O953903   

Export aliases for GDF11 gene to outside databases

Previous GC identifers: GC12P056061 GC12P056210 GC12P055853 GC12P054423 GC12P053175


Summaries
for GDF11 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for GDF11:
The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta
superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to
produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of
cell growth and differentiation in both embryonic and adult tissues. Studies in mice and Xenopus suggest that this
protein is involved in mesodermal formation and neurogenesis during embryonic development. (provided by RefSeq, Jul
2008)

UniProtKB/Swiss-Prot: GDF11_HUMAN, O95390
Function: Secreted signal that acts globally to specify positional identity along the anterior/posterior axis during
development. Play critical roles in patterning both mesodermal and neural tissues and in establishing the skeletal
pattern

Gene Wiki entry for GDF11


Genomic Views
for GDF11 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GDF11 gene promoter:
         GR   C/EBPbeta   Sp1   GR-beta   Nkx2-5   c-Ets-1   HEN1   GR-alpha   LyF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GDF11 promoter sequence
   Search SABiosciences Chromatin IP Primers for GDF11

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GDF11


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q13.2   Ensembl cytogenetic band:  12q13.2   HGNC cytogenetic band: 12q13.13

GDF11 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GDF11 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P056137:  view genomic region     (about GC identifiers)

Start:
 56,137,064 bp from pter      End:
 56,150,911 bp from pter
Size:
 13,848 bases      Orientation:
 plus strand

Proteins
for GDF11 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: GDF11_HUMAN, O95390 (See protein sequence)
Recommended Name: Growth/differentiation factor 11 precursor  
Size: 407 amino acids; 45091 Da
Subunit: Homodimer; disulfide-linked (By similarity)
Subcellular location: Secreted (Probable)
Secondary accessions: Q9UID1 Q9UID2

Explore the universe of human proteins at neXtProt for GDF11: NX_O95390

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O95390

    • GDF11 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005802.1  
    ENSEMBL proteins: 
     ENSP00000257868   ENSP00000448390  

    Human Recombinant Protein Products: 
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    Uscn Proteins for GDF11

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005615extracellular space IEA--


    GDF11 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for GDF11 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    GDF11 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR001111 TGF-b_N
     IPR015615 TGF-beta-rel
     IPR001839 TGF-b_C
     IPR017948 TGFb_CS

    Graphical View of Domain Structure for InterPro Entry O95390

    ProtoNet protein and cluster: O95390

    2 Blocks protein families:
    IPB001111 Transforming growth factor beta (TGFb)
    IPB001839 Transforming growth factor beta (TGFb)


    UniProtKB/Swiss-Prot: GDF11_HUMAN, O95390
    Similarity: Belongs to the TGF-beta family


    Function
    for GDF11 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: GDF11_HUMAN, O95390
    Function: Secreted signal that acts globally to specify positional identity along the anterior/posterior axis during
    development. Play critical roles in patterning both mesodermal and neural tissues and in establishing the skeletal
    pattern

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GDF11
    8/134 QIAGEN miScript miRNA Assays for microRNAs that regulate GDF11 (see all 134):
    hsa-miR-193a-3p hsa-miR-3938 hsa-miR-520f hsa-miR-631 hsa-miR-106a hsa-miR-128 hsa-miR-519a hsa-miR-3170
    SwitchGear 3'UTR luciferase reporter plasmid: GDF11 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005125cytokine activity NAS--
    GO:0005515protein binding ----
    GO:0008083growth factor activity IEA--


    GDF11 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for GDF11:
     Decreased Salmonella enterica   Decreased homologous recombina 

    Animal Models:
         Mouse knock-outs for GDF11: Gdf11tm2.2Sjl Gdf11tm1Clf Gdf11tm1Sjl
         15/19 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Gdf11) (see all 19):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size  hematopoietic system  homeostasis/metabolism  immune system 
     limbs/digits/tail  mortality/aging  muscle  nervous system  renal/urinary system 

    GDF11 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for GDF11 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GDF11

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5/6 Interacting proteins for GDF11 (O953902, 3 ENSP000002578684) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACVR2BQ137052, 3, ENSP000003403614MINT-8044205 I2D: score=3 STRING: ENSP00000340361
    WFIKKN1Q96NZ83, ENSP000003247634I2D: score=1 STRING: ENSP00000324763
    WFIKKN2Q8TEU83, ENSP000003111844I2D: score=1 STRING: ENSP00000311184
    --Q612712MINT-2842299
    --Q8K3482MINT-2842380
    About this table

    Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development TAS10391213
    GO:0001656metanephros development IEA--
    GO:0001657ureteric bud development IEA--
    GO:0007399nervous system development TAS10075854
    GO:0007498mesoderm development TAS10075854


    GDF11 for ontologies           About GeneDecksing



    Drugs & Compounds
    for GDF11 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for GDF11
    Search CenterWatch for drugs/clinical trials and news about GDF11 

    Transcripts
    for GDF11 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for GDF11 gene: 
    NM_005811.3  

    Unigene Cluster for GDF11:

    Growth differentiation factor 11
    Hs.600883  [show with all ESTs]
    Unigene Representative Sequence: NM_005811
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000257868(uc001shq.3) ENST00000546799

    miRNA
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    8/134 QIAGEN miScript miRNA Assays for microRNAs that regulate GDF11 (see all 134):
    hsa-miR-193a-3p hsa-miR-3938 hsa-miR-520f hsa-miR-631 hsa-miR-106a hsa-miR-128 hsa-miR-519a hsa-miR-3170
    SwitchGear 3'UTR luciferase reporter plasmid: GDF11 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GDF11

    Additional cDNA sequence: 

    AF028333.1 AF100907.1 AK091091.1 

    7 DOTS entries:

    DT.121194657  DT.100020515  DT.430003  DT.95135754  DT.313388  DT.99936459  DT.92459617 

    24/191 AceView cDNA sequences (see all 191):

    BU732952 BX280443 AI889093 BM707862 BM683293 AL134870 AI916904 BM044531 
    AA494555 BF516009 AI380467 N52656 BU625797 AA548755 BM678313 BM722391 
    AI263821 BM718106 BU730899 BI869431 AI969382 BU682663 BQ218253 AI335632 

    GeneLoc Exon Structure


    Expression
    for GDF11 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GDF11 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACACAATCCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    GDF11 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeGanglion Cell LayerMature Ganglion CellsGanglion, Retina
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See GDF11 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GDF11

    SOURCE GeneReport for Unigene cluster: Hs.600883
        SABiosciences Expression via Pathway-Focused PCR Array including GDF11: 
              Growth Factors in human mouse rat

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    In Situ
    Assay Products:     
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    Orthologs
    for GDF11 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for GDF11 gene from 5/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia GDF116
    		 --
    		 80(a)
    		 1 ↔ 1
    		 GL343198.1(3034380-3058997)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.136382 Xenopus laevis transcribed sequence with moderate similarity more 78.44(n)    BJ034907.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii gdf82 growth differentiation factor 8 77.16(n)   30215  AF019626.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta myo6
    		 myoglianin
    		 16(a)
    		 1 → many
    		 4(711890-716675)
    worm
    (Caenorhabditis elegans)    		 Secernentea daf-71 Protein DAF-7 43.65(n)
    29.97(a)    		   175237  NM_064864.3  NP_497265.1 


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

    Paralogs
    for GDF11 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GDF11 gene
    TGFB32  INHBC2  MSTN2  INHBE2  INHBA2  TGFB12  INHBB2  TGFB22  
    2 SIMAP similar genes for GDF11 using alignment to 2 protein entries:     GDF11_HUMAN (see all proteins):
    MSTN    GDF8

    GDF11 for paralogs           About GeneDecksing



    Genomic Variants
    for GDF11 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/153 NCBI SNPs in GDF11 are shown (see all 153)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1995571581,2
    		C--56135194(+) CTTTTC/TTTTTT 1 -- us2k10--------
    rs1894816571,2
    		--56135199(+) CTTTTC/TTTTTT 1 -- us2k10--------
    rs1810246571,2
    		--56135262(+) ATCTCA/GGCTCA 1 -- us2k10--------
    rs1844059551,2
    		--56135401(+) GTTAGC/GCAGGA 1 -- us2k10--------
    rs1417999731,2
    		--56135472(+) CAGGCC/GTGAGC 1 -- us2k10--------
    rs1892731411,2
    		--56135490(+) CCTGGC/TCTGGC 1 -- us2k10--------
    rs1819531311,2
    		--56135494(+) GCCTGA/GCACAA 1 -- us2k10--------
    rs1505529071,2
    		--56135517(+) TGACTA/GTTGCT 1 -- us2k10--------
    rs1156904091,2
    		C,F,--56135963(+) TCCCAT/CCACCT 1 -- us2k11Minor allele frequency- C:0.03WA 118
    rs1864110171,2
    		--56136123(+) TCCACC/TTCTGT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for GDF11 (56137064 - 56150911 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for GDF11: --

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for GDF11

    Disorders / Diseases
    for GDF11 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    GDF11 for disorders           About GeneDecksing

    OMIM gene information: 603936    OMIM disorders: --

    6 diseases for GDF11:    About MalaCards
    low tension glaucoma    currarino syndrome    glaucoma    colorectal cancer
    retinitis    neuronitis

    Human Genome Epidemiology (HuGE) Navigator: GDF11 (1 document)

    Export disorders for GDF11 gene to outside databases

    Publications
    for GDF11 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for GDF11 gene, integrated from 9 sources (see all 20):
    (articles sorted by number of sources associating them with GDF11)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. GDF11 forms a bone morphogenetic protein 1-activated latent complex that can modulate nerve growth factor-induced differentiation of PC12 cells. (PubMed id 15988002)1, 3, 9 Ge G....Greenspan D.S. (2005)
    2. A novel BMP expressed in developing mouse limb, spinal cord, and tail bud is a potent mesoderm inducer in Xenopus embryos. (PubMed id 10075854)1, 2 Gamer L.W....Rosen V. (1999)
    3. Regulation of anterior/posterior patterning of the axial skeleton by growth/differentiation factor 11. (PubMed id 10391213)1, 2 McPherron A.C.... Lee S.-J. (1999)
    4. Clinical significance of growth differentiation factor 11 in colorectal cancer. (PubMed id 17912435)1, 9 Yokoe T....Mori M. (2007)
    5. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)1 He C....Hunter D.J. (2010)
    6. BMP-11 and myostatin support undifferentiated growth of human embryonic stem cells in feeder-free cultures. (PubMed id 19751112)1 Hannan N.R....Wolvetang E.J. (2009)
    7. TGFbeta ligands promote the initiation of retinal ganglion cell dendrites in vitro and in vivo. (PubMed id 17997109)1 Hocking J.C....McFarlane S. (2008)
    8. VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5. (PubMed id 18519639)1 Szumska D....Bhattacharya S. (2008)
    9. Both WFIKKN1 and WFIKKN2 have high affinity for growth and differentiation factors 8 and 11. (PubMed id 18596030)1 Kondas K....Patthy L. (2008)
    10. Differential antagonism of activin, myostatin and growth and differentiation factor 11 by wild-type and mutant follistatin. (PubMed id 18535106)1 Schneyer A.L....Krasney P.A. (2008)

    External Searches for GDF11 gene

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    Genome Databases showing GDF11 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10220 HGNC: 4216 AceView: GDF11 Ensembl:ENSG00000135414 euGenes: HUgn10220
    ECgene: GDF11 H-InvDB: GDF11

    Other Databases showing GDF11 gene

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    Specialized Databases showing GDF11 gene

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    PharmGKB entry for GDF11 Pharmacogenomics, SNPs, Pathways

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