Human Gene GDF11 (uc001shq.3)
  Description: Homo sapiens growth differentiation factor 11 (GDF11), mRNA.
RefSeq Summary (NM_005811): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Transcript (Including UTRs)
   Position: hg19 chr12:56,137,064-56,146,665 Size: 9,602 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr12:56,137,101-56,143,666 Size: 6,566 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:56,137,064-56,146,665)mRNA (may differ from genome)Protein (407 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GDF11_HUMAN
DESCRIPTION: RecName: Full=Growth/differentiation factor 11; Short=GDF-11; AltName: Full=Bone morphogenetic protein 11; Short=BMP-11; Flags: Precursor;
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.
SUBUNIT: Homodimer; disulfide-linked (By similarity).
SUBCELLULAR LOCATION: Secreted (Probable).
SIMILARITY: Belongs to the TGF-beta family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): GDF11
CDC HuGE Published Literature: GDF11

-  MalaCards Disease Associations
  MalaCards Gene Search: GDF11
Diseases sorted by gene-association score: currarino syndrome (10)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 9.81 RPKM in Brain - Amygdala
Total median expression: 200.91 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR 0.00370.000 Picture PostScript Text
3' UTR -1081.432999-0.361 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001839 - TGF-b_C
IPR001111 - TGF-b_N
IPR015615 - TGF-beta-rel
IPR017948 - TGFb_CS

Pfam Domains:
PF00019 - Transforming growth factor beta like domain
PF00688 - TGF-beta propeptide

SCOP Domains:
57501 - Cystine-knot cytokines

ModBase Predicted Comparative 3D Structure on O95390
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
 Protein SequenceProtein Sequence Protein Sequence 
 AlignmentAlignment Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005125 cytokine activity
GO:0005160 transforming growth factor beta receptor binding
GO:0005515 protein binding
GO:0008083 growth factor activity

Biological Process:
GO:0001501 skeletal system development
GO:0001656 metanephros development
GO:0001657 ureteric bud development
GO:0007399 nervous system development
GO:0007498 mesoderm development
GO:0008285 negative regulation of cell proliferation
GO:0009887 animal organ morphogenesis
GO:0009952 anterior/posterior pattern specification
GO:0010469 regulation of receptor activity
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation
GO:0021512 spinal cord anterior/posterior patterning
GO:0031016 pancreas development
GO:0042981 regulation of apoptotic process
GO:0043408 regulation of MAPK cascade
GO:0045596 negative regulation of cell differentiation
GO:0045665 negative regulation of neuron differentiation
GO:0048468 cell development
GO:0048469 cell maturation
GO:0048593 camera-type eye morphogenesis
GO:0060021 palate development
GO:0060395 SMAD protein signal transduction

Cellular Component:
GO:0005575 cellular_component
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005654 nucleoplasm
GO:0032991 macromolecular complex
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  AF100907 - Homo sapiens bone morphogenetic protein 11 (BMP11) mRNA, complete cds.
JD517055 - Sequence 498079 from Patent EP1572962.
BC148591 - Synthetic construct Homo sapiens clone IMAGE:100015612, MGC:183127 growth differentiation factor 11 (GDF11) mRNA, encodes complete protein.
AF028333 - Homo sapiens growth/differentiation factor-11 (GDF11) mRNA, partial cds.
JC506661 - Sequence 29 from Patent EP2733220.
JC737773 - Sequence 29 from Patent WO2014075939.
JC506666 - Sequence 34 from Patent EP2733220.
JC737778 - Sequence 34 from Patent WO2014075939.
JC506674 - Sequence 42 from Patent EP2733220.
JC737786 - Sequence 42 from Patent WO2014075939.
JC506688 - Sequence 56 from Patent EP2733220.
JC737800 - Sequence 56 from Patent WO2014075939.
KC561773 - Homo sapiens GDF-11DeltaEx1 autocatalytically spliced intron, partial sequence.
JD123050 - Sequence 104074 from Patent EP1572962.
JD039932 - Sequence 20956 from Patent EP1572962.
JD317000 - Sequence 298024 from Patent EP1572962.
JD066062 - Sequence 47086 from Patent EP1572962.
JD374273 - Sequence 355297 from Patent EP1572962.
JD343993 - Sequence 325017 from Patent EP1572962.
JD446135 - Sequence 427159 from Patent EP1572962.
JD490350 - Sequence 471374 from Patent EP1572962.
JD235846 - Sequence 216870 from Patent EP1572962.
JD441311 - Sequence 422335 from Patent EP1572962.
JD051698 - Sequence 32722 from Patent EP1572962.
JD348905 - Sequence 329929 from Patent EP1572962.
JD375608 - Sequence 356632 from Patent EP1572962.
JD065720 - Sequence 46744 from Patent EP1572962.
JD103340 - Sequence 84364 from Patent EP1572962.
AK091091 - Homo sapiens cDNA FLJ33772 fis, clone BRSSN2000175.

-  Other Names for This Gene
  Alternate Gene Symbols: BMP11, GDF11_HUMAN, NM_005811, NP_005802, O95390, Q9UID1, Q9UID2
UCSC ID: uc001shq.3
RefSeq Accession: NM_005811
Protein: O95390 (aka GDF11_HUMAN or GDFB_HUMAN)
CCDS: CCDS8891.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_005811.3
exon count: 3CDS single in 3' UTR: no RNA size: 4260
ORF size: 1224CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2203.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.