• Gene id: 8200

Gene Summary

• Gene Symbol: GDF5   Gene   UCSC   Ensembl
• Aliases: BDA1C, BMP-14, BMP14, CDMP1, DUPANS, LAP-4, LAP4, OS5, SYM1B, SYNS2
• Gene name: growth differentiation factor 5
• Alternate names: growth/differentiation factor 5, LPS-associated protein 4, bone morphogenetic protein 14, cartilage-derived morphogenetic protein-1, lipopolysaccharide-associated protein 4, radotermin,
• Gene location: 20q11.22 (35454748: 35433346)     Exons: 4     NC_000020.11
• 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

Protein Summary

• Protein general information: P43026  
  • Name: Growth/differentiation factor 5 (GDF 5) (Bone morphogenetic protein 14) (BMP 14) (Cartilage derived morphogenetic protein 1) (CDMP 1) (Lipopolysaccharide associated protein 4) (LAP 4) (LPS associated protein 4) (Radotermin)
  • Length: 501  
  • Mass: 55411
  • Tissue specificity: Predominantly expressed in long bones during embryonic development. Expressed in monocytes (at protein level). {ECO
• Sequence:

  MRLPKLLTFLLWYLAWLDLEFICTVLGAPDLGQRPQGTRPGLAKAEAKERPPLARNVFRPGGHSYGGGATNANAR
  AKGGTGQTGGLTQPKKDEPKKLPPRPGGPEPKPGHPPQTRQATARTVTPKGQLPGGKAPPKAGSVPSSFLLKKAR
  EPGPPREPKEPFRPPPITPHEYMLSLYRTLSDADRKGGNSSVKLEAGLANTITSFIDKGQDDRGPVVRKQRYVFD
  ISALEKDGLLGAELRILRKKPSDTAKPAAPGGGRAAQLKLSSCPSGRQPASLLDVRSVPGLDGSGWEVFDIWKLF
  RNFKNSAQLCLELEAWERGRAVDLRGLGFDRAARQVHEKALFLVFGRTKKRDLFFNEIKARSGQDDKTVYEYLFS
  QRRKRRAPLATRQGKRPSKNLKARCSRKALHVNFKDMGWDDWIIAPLEYEAFHCEGLCEFPLRSHLEPTNHAVIQ
  TLMNSMDPESTPPTCCVPTRLSPISILFIDSANNVVYKQYEDMVVESCGCR

• Structural information:
  • Interpro: IPR029034  IPR001839  IPR001111  IPR015615  IPR017948  
  • Prosite: PS00250 PS51362
  • PDB: 1WAQ 2BHK 3EVS 3QB4 5HK5
  • PDBsum: 1WAQ 2BHK 3EVS 3QB4 5HK5
  • DIP: 5823
  • STRING: ENSP00000363492
• Other Databases: GeneCards:  GDF5  Malacards:  GDF5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IBA	biological process
GO:0030509	BMP signaling pathway	IBA	biological process
GO:0005125	cytokine activity	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0060395	SMAD protein signal transduction	IBA	biological process
GO:0060395	SMAD protein signal transduction	IDA	biological process
GO:0030513	positive regulation of BMP signaling pathway	IDA	biological process
GO:0060395	SMAD protein signal transduction	IDA	biological process
GO:0030513	positive regulation of BMP signaling pathway	IDA	biological process
GO:0060390	regulation of SMAD protein signal transduction	IDA	biological process
GO:0032331	negative regulation of chondrocyte differentiation	IDA	biological process
GO:0060591	chondroblast differentiation	IDA	biological process
GO:0032332	positive regulation of chondrocyte differentiation	IDA	biological process
GO:0032332	positive regulation of chondrocyte differentiation	IDA	biological process
GO:0036122	BMP binding	IPI	molecular function
GO:0036122	BMP binding	IPI	molecular function
GO:0036122	BMP binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008083	growth factor activity	IEA	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0005125	cytokine activity	IEA	molecular function
GO:0051216	cartilage development	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0008083	growth factor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0008083	growth factor activity	TAS	molecular function
GO:0007179	transforming growth factor beta receptor signaling pathway	TAS	biological process
GO:0007267	cell-cell signaling	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0043932	ossification involved in bone remodeling	IEA	biological process
GO:0009612	response to mechanical stimulus	IEA	biological process
GO:2001054	negative regulation of mesenchymal cell apoptotic process	IEA	biological process
GO:0040014	regulation of multicellular organism growth	IEA	biological process
GO:0035137	hindlimb morphogenesis	IEA	biological process
GO:0035136	forelimb morphogenesis	IEA	biological process
GO:0030326	embryonic limb morphogenesis	IEA	biological process
GO:0007178	transmembrane receptor protein serine/threonine kinase signaling pathway	IEA	biological process
GO:0043524	negative regulation of neuron apoptotic process	IEA	biological process
GO:0005102	signaling receptor binding	IEA	molecular function
GO:0032332	positive regulation of chondrocyte differentiation	IEA	biological process
GO:0050680	negative regulation of epithelial cell proliferation	IDA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04060	Cytokine-cytokine receptor interaction
hsa04390	Hippo signaling pathway
hsa04350	TGF-beta signaling pathway

Diseases

Associated diseases	References
Brachydactyly	KEGG:H00482
Grebe dysplasia	KEGG:H00466
Fibular hypoplasia and complex brachydactyly	KEGG:H00467
Angel shaped phalangoepiphyseal dysplasia	KEGG:H00483
Multiple synostosis syndrome	KEGG:H00484
Proximal symphalangism	KEGG:H00851
Brachydactyly	KEGG:H00482
Grebe dysplasia	KEGG:H00466
Fibular hypoplasia and complex brachydactyly	KEGG:H00467
Angel shaped phalangoepiphyseal dysplasia	KEGG:H00483
Multiple synostosis syndrome	KEGG:H00484
Proximal symphalangism	KEGG:H00851
Fibular hypoplasia and complex brachydactyly	PMID:12121354
Multiple synostoses syndrome	PMID:16532400
Acromesomelic dysplasia, Grebe type	PMID:18979166
Acromesomelic dysplasia, Grebe type	PMID:23812741
Acromesomelic dysplasia, Grebe type	PMID:19038017
Brachydactyly	PMID:20683927
Parkinson's disease	PMID:22436046
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray