Tbio GDF6 Growth/differentiation factor 6

Protein Summary

Description

Growth factor that controls proliferation and cellular differentiation in the retina and bone formation. Plays a key role in regulating apoptosis during retinal development. Establishes dorsal-ventral positional information in the retina and controls the formation of the retinotectal map (PubMed:23307924). Required for normal formation of bones and joints in the limbs, skull, digits and axial skeleton. Plays a key role in establishing boundaries between skeletal elements during development. Regulation of GDF6 expression seems to be a mechanism for evolving species-specific changes in skeletal structures. Seems to positively regulate differentiation of chondrogenic tissue through the growth factor receptors subunits BMPR1A, BMPR1B, BMPR2 and ACVR2A, leading to the activation of SMAD1-SMAD5-SMAD8 complex. The regulation of chondrogenic differentiation is inhibited by NOG (PubMed:26643732). Also involved in the induction of adipogenesis from mesenchymal stem cells. This mechanism acts through the growth factor receptors subunits BMPR1A, BMPR2 and ACVR2A and the activation of SMAD1-SMAD5-SMAD8 complex and MAPK14/p38 (By similarity). 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 is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mutations in this gene are associated with Klippel-Feil syndrome, microphthalmia, and Leber congenital amaurosis. [provided by RefSeq, Sep 2016]

Uniprot Accession IDs

• Q6KF10
• Q6PI58
• GDF-6

Gene Name

• GDF6

Ensembl ID

• ENST00000287020
• ENSP00000287020
• ENSG00000156466

Symbol

• BMP13
• GDF16
• KFM
• KFS
• KFS1
• KFSL
• SGM1
• BMP13
• CDMP2
• SYNS4
• BMP-13

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
biological process	0.81
microRNA	0.76
phenotype	0.75
protein domain	0.73
tissue sample	0.61

Protein Classes

PANTHER Classes

Protein / Signaling Molecule / Growth Factor / Growth/differentiation Factor 6

DTO Classes

Protein / Signaling / Growth Factor / Growth/differentiation Factor 6

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 174.8   (req: < 5)

Gene RIFs: 26   (req: <= 3)

Antibodies: 148   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 174.8   (req: >= 5)

Gene RIFs: 26   (req: > 3)

Antibodies: 148   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 19

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0