GDF11
Growth/differentiation factor 11
Also known as: BMP-11, BMP11, GDF11_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O95390
- Gene
- GDF11
- Ensembl
- ENSG00000135414
- Chromosome
- 12
- Canonical length
- 407 aa
- Protein class
- Disease related genes, Predicted intracellular proteins, Predicted secreted proteins
- Subcellular location
- Golgi apparatus,Vesicles
- Secretome location
- Secreted to blood
- Quaternary structure
- Homodimer
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
407 residues, UniProt reviewed canonical sequence.
>O95390|GDF11
1 MVLAAPLLLG FLLLALELRP RGEAAEGPAA AAAAAAAAAA AGVGGERSSR PAPSVAPEPD
61 GCPVCVWRQH SRELRLESIK SQILSKLRLK EAPNISREVV KQLLPKAPPL QQILDLHDFQ
121 GDALQPEDFL EEDEYHATTE TVISMAQETD PAVQTDGSPL CCHFHFSPKV MFTKVLKAQL
181 WVYLRPVPRP ATVYLQILRL KPLTGEGTAG GGGGGRRHIR IRSLKIELHS RSGHWQSIDF
241 KQVLHSWFRQ PQSNWGIEIN AFDPSGTDLA VTSLGPGAEG LHPFMELRVL ENTKRSRRNL
301 GLDCDEHSSE SRCCRYPLTV DFEAFGWDWI IAPKRYKANY CSGQCEYMFM QKYPHTHLVQ
361 QANPRGSAGP CCTPTKMSPI NMLYFNDKQQ IIYGKIPGMV VDRCGCSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GDF11 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.41
- Highest tissue expression
- 20 nTPM
Expression across tissuesHPA
Tissue
- retina: 20 nTPM
- amygdala: 17 nTPM
- spinal cord: 15 nTPM
- midbrain: 15 nTPM
- hippocampal formation: 14 nTPM
- basal ganglia: 14 nTPM
Single-cell type
- retinal pigment epithelial cells: 414 nCPM
- megakaryocyte progenitors: 66 nCPM
- cone photoreceptor cells: 62 nCPM
- retinal bipolar cells: 55 nCPM
- retinal horizontal cells: 54 nCPM
- megakaryocyte-erythroid progenitors: 51 nCPM
Immune cell
- gdT-cell: 1.2 nTPM
- MAIT T-cell: 1 nTPM
- naive CD8 T-cell: 0.8 nTPM
- memory B-cell: 0.7 nTPM
- memory CD4 T-cell: 0.7 nTPM
- memory CD8 T-cell: 0.7 nTPM
Brain region
- midbrain: 49 nTPM
- thalamus: 39 nTPM
- amygdala: 39 nTPM
- medulla oblongata: 38 nTPM
- pons: 36 nTPM
- cerebral cortex: 32 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GDF11.
Disease | AllUniProt
Conditions GDF11 is implicated in, by any mechanism.
- Vertebral hypersegmentation and orofacial anomalies (VHO) MIM:619122
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 52 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Orofacial cleft
- Vertebral hypersegmentation and orofacial anomalies
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.3
- gnomAD pLI
- 0.98
- gnomAD missense Z
- 2.98
- DepMap mean gene effect
- -0.11
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- activin receptor signaling pathway
- amacrine cell differentiation
- camera-type eye morphogenesis
- cell population proliferation
- mesoderm development
- metanephros development
- negative regulation of amacrine cell differentiation
- negative regulation of cell population proliferation
- nervous system development
- positive regulation of SMAD protein signal transduction
- roof of mouth development
- skeletal system development
- transforming growth factor beta receptor signaling pathway
- type B pancreatic cell maturation
- ureteric bud development
- spinal cord anterior/posterior patterning
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of GDF11 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GDF11 as an antibody target. Whether an autoantibody or antibody against GDF11 could matter depends on whether native GDF11 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GDF11 is annotated as secreted, so native GDF11 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label GDF11 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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