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 regulates the development of numerous tissue and cell types, including cartilage, joints, brown fat, teeth, and the growth of neuronal axons and dendrites. Mutations in this gene are associated with acromesomelic dysplasia, brachydactyly, chondrodysplasia, multiple synostoses syndrome, proximal symphalangism, and susceptibility to osteoarthritis. [provided by RefSeq, Aug 2016]
Overall distribution
Tissue specific distribution
Overall distribution
Tissue specific distribution
Gscore (Amp):
0.00
Gscore (Del):
0.00
Overall distribution
Tissue specific distribution
Mscore:
0.00
Overall
Tissue specific
Total fusion occurrence:
1
Fusions detected in 1 cancer type(s)
Overall
Tissue specific
Functional class:
Not specified
JensenLab PubMed score:
401.84 (Percentile rank: 89.09%)
PubTator score:
263.40 (Percentile rank: 88.51%)
Target development/druggability level:
TbioThese targets do not have known drug or small molecule activities that satisfy the activity thresholds detailed below AND satisfy one or more of the following criteria: 1) target is above the cutoff criteria for Tdark; 2) target is annotated with a Gene Ontology Molecular Function or Biological Process leaf term(s) with an Experimental Evidence code.
Tractability (small molecule):
Discovery PrecedenceTargets with ligands; Targets with crystal structures with ligands
Tractability (antibody):
Predicted Tractable - High confidenceTargets located in the plasma membrane; Targets with GO cell component terms plasma membrane or secreted
