Gdf6 Gene Summary [Mouse]

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. Mice lacking a functional copy of this gene exhibit joint and skeletal defects. [provided by RefSeq, Sep 2016]

Details

Type
Protein Coding
Official Symbol
Gdf6
Official Name
growth differentiation factor 6 [Source:MGI Symbol;Acc:MGI:95689]
Ensembl ID
ENSMUSG00000051279
Bio databases IDs NCBI: 242316 Ensembl: ENSMUSG00000051279
Aliases growth differentiation factor 6
Synonyms BMP-13, CDMP2, GDF16, growth differentiation factor 6, KFM, KFS, KFS1, KFSL, LOC392255, SGM1, SYNS4
Species
Mouse, Mus musculus
OrthologiesHumanRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Gdf6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Glycoprotein hormone beta chain homologues
  • TGF_beta_SF
  • Transforming growth factor beta like domain
  • receptor agonist activity
  • protein binding
  • identical protein binding
  • growth factor
  • TGF-beta propeptide

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • autosomal dominant Klippel-Feil syndrome type 1
  • isolated microphthalmia with coloboma type 6
  • growth failure
  • Leber congenital amaurosis type 17
  • congenital anomalies of kidney and urinary tract
  • multiple synostoses syndrome type 4
  • isolated microphthalmia type 4
  • age-related macular degeneration
  • digenic microphthalmia with coloboma 6
regulated by
regulates
  • ERK1/2
  • SMAD1/5/9
  • ID1
  • CDKN2A
  • ALP
  • CDKN1A
  • proteoglycan
  • osteocalcin
  • collagen type i (family)
role in cell
  • phosphorylation in
  • expression in
  • proliferation
  • quantity
  • differentiation
  • migration by
  • synthesis in
  • mineralization

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Extracellular Space

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Gdf6 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • SMAD protein signal transduction
  • positive regulation of neuron differentiation
  • fat cell differentiation
  • positive regulation of p38MAPK cascade
  • activin receptor signaling pathway
  • metanephros development
  • positive regulation of transcription, DNA-dependent
  • BMP signaling pathway
  • apoptotic process
  • positive regulation of SMAD protein import into nucleus
  • positive regulation of chondrocyte differentiation
  • epithelial cell migration
  • cell migration involved in metanephros development

Cellular Component

Where in the cell the gene product is active
  • extracellular space

Molecular Function

What the gene product does at the molecular level
  • identical protein binding
  • growth factor activity
  • cytokine activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.