Gene

GDF6

Species
Homo sapiens
Symbol
GDF6
Name
growth differentiation factor 6
Synonyms
  • BMP-13
  • BMP13
Biotype
protein coding gene
Automated Description
Predicted to enable cytokine activity. Involved in several processes, including positive regulation of SMAD protein signal transduction; positive regulation of chondrocyte differentiation; and transforming growth factor beta receptor superfamily signaling pathway. Acts upstream of or within with a positive effect on metanephros development. Predicted to be located in extracellular region. Predicted to be active in extracellular space. Implicated in Leber congenital amaurosis 17; bone disease (multiple); cleft lip; cleft palate; and isolated microphthalmia 4.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11848
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

No data available

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
96.144M96.146M96.148M96.150M96.152M96.154M96.156M96.158M96.160M

Sequence Details

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Expression

Primary Sources
None
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

5 interactor genes based on 7 annotations
GDF6 molecule type
Interactor gene
Interactor species
Interactor molecule type
Detection methods
Source
Reference
protein
BMPR2Homo sapiens
protein
  • pull down
PMID:9525338
protein
BMPR1AHomo sapiens
protein
  • pull down
PMID:9525338
protein
BMPR1BHomo sapiens
protein
  • pull down
PMID:9525338
protein
CTBP2Homo sapiens
protein
  • affinity chromatography technology
PMID:30585266
protein
TNFAIP6Homo sapiens
protein
  • enzyme linked immunosorbent assay
PMID:18586671
protein
TNFAIP6Homo sapiens
protein
  • surface plasmon resonance
PMID:18586671
protein
TNFAIP6Homo sapiens
protein
  • surface plasmon resonance
PMID:18586671
Showing 1 - 7 of 7 rows
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Genetic Interactions