• Gene id: 10220

Gene Summary

• Gene Symbol: GDF11   Gene   UCSC   Ensembl
• Aliases: BMP-11, BMP11
• Gene name: growth differentiation factor 11
• Alternate names: growth/differentiation factor 11, GDF-11, bone morphogenetic protein 11,
• Gene location: 12q13.2 (55743121: 55757263)     Exons: 3     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 603936

Protein Summary

• Protein general information: O95390  
  • Name: Growth/differentiation factor 11 (GDF 11) (Bone morphogenetic protein 11) (BMP 11)
  • Length: 407  
  • Mass: 45091
• Sequence:

  MVLAAPLLLGFLLLALELRPRGEAAEGPAAAAAAAAAAAAAGVGGERSSRPAPSVAPEPDGCPVCVWRQHSRELR
  LESIKSQILSKLRLKEAPNISREVVKQLLPKAPPLQQILDLHDFQGDALQPEDFLEEDEYHATTETVISMAQETD
  PAVQTDGSPLCCHFHFSPKVMFTKVLKAQLWVYLRPVPRPATVYLQILRLKPLTGEGTAGGGGGGRRHIRIRSLK
  IELHSRSGHWQSIDFKQVLHSWFRQPQSNWGIEINAFDPSGTDLAVTSLGPGAEGLHPFMELRVLENTKRSRRNL
  GLDCDEHSSESRCCRYPLTVDFEAFGWDWIIAPKRYKANYCSGQCEYMFMQKYPHTHLVQQANPRGSAGPCCTPT
  KMSPINMLYFNDKQQIIYGKIPGMVVDRCGCS

• Structural information:
  • Interpro: IPR029034  IPR001839  IPR001111  IPR015615  IPR017948  
  • Prosite: PS00250 PS51362
  • PDB: 5E4G 5JHW 5UHM 6MAC
  • PDBsum: 5E4G 5JHW 5UHM 6MAC
  • STRING: ENSP00000257868
• Other Databases: GeneCards:  GDF11  Malacards:  GDF11

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060395	SMAD protein signal transduction	IBA	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:0005125	cytokine activity	IBA	molecular function
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IBA	biological process
GO:0060395	SMAD protein signal transduction	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0008083	growth factor activity	IEA	molecular function
GO:0005125	cytokine activity	IEA	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0008083	growth factor activity	IEA	molecular function
GO:0032991	protein-containing complex	IDA	cellular component
GO:0001501	skeletal system development	IEA	biological process
GO:0001656	metanephros development	IEA	biological process
GO:0001657	ureteric bud development	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0009887	animal organ morphogenesis	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0045596	negative regulation of cell differentiation	IEA	biological process
GO:0060395	SMAD protein signal transduction	IEA	biological process
GO:0045665	negative regulation of neuron differentiation	IEA	biological process
GO:0021512	spinal cord anterior/posterior patterning	IEA	biological process
GO:0031016	pancreas development	IEA	biological process
GO:0048469	cell maturation	IEA	biological process
GO:0048593	camera-type eye morphogenesis	IEA	biological process
GO:0060021	roof of mouth development	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0001501	skeletal system development	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007498	mesoderm development	TAS	biological process
GO:0007399	nervous system development	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04060	Cytokine-cytokine receptor interaction

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq