======= GDF6 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: GDF6
  * **<color #00a2e8>Official Name</color>**: growth differentiation factor 6
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=392255|392255]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q6KF10|Q6KF10]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=GDF6&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20GDF6|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/601147|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  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 strucutres. Seems to positively regulates 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). {ECO:0000250|UniProtKB:P43028, ECO:0000269|PubMed:23307924, ECO:0000269|PubMed:26643732}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|TGF beta|
|TGFb propeptide|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|retinal cell apoptotic process|
|pathway-restricted SMAD protein phosphorylation|
|positive regulation of chondrocyte differentiation|
|activin receptor signaling pathway|
|positive regulation of p38MAPK cascade|
|positive regulation of cartilage development|
|regulation of p38MAPK cascade|
|transforming growth factor beta receptor binding|
|positive regulation of pathway-restricted SMAD protein phosphorylation|
|regulation of chondrocyte differentiation|
|SMAD protein signal transduction|
|regulation of pathway-restricted SMAD protein phosphorylation|
|regulation of cartilage development|
|BMP signaling pathway|
|positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway|
|cellular response to BMP stimulus|
|response to BMP|
|fat cell differentiation|
|growth factor activity|
|positive regulation of stress-activated MAPK cascade|
|positive regulation of stress-activated protein kinase signaling cascade|
|cytokine activity|
|transmembrane receptor protein serine/threonine kinase signaling pathway|
|regulation of stress-activated MAPK cascade|
|regulation of transmembrane receptor protein serine/threonine kinase signaling pathway|
|regulation of stress-activated protein kinase signaling cascade|
|positive regulation of neuron differentiation|
|positive regulation of neurogenesis|
|cellular response to growth factor stimulus|
|response to growth factor|
|positive regulation of nervous system development|
|positive regulation of cell development|
|positive regulation of MAPK cascade|
|regulation of neuron differentiation|
|enzyme linked receptor protein signaling pathway|
|regulation of cellular response to stress|
|regulation of MAPK cascade|
|regulation of neurogenesis|
|protein homodimerization activity|
|apoptotic process|
|regulation of nervous system development|
|regulation of cell development|
|positive regulation of cell differentiation|
|protein phosphorylation|
|positive regulation of protein phosphorylation|
|positive regulation of intracellular signal transduction|
|programmed cell death|
|positive regulation of phosphorylation|
|cell death|
|positive regulation of phosphate metabolic process|
|positive regulation of phosphorus metabolic process|
|cellular response to endogenous stimulus|
|positive regulation of protein modification process|
|phosphorylation|
|positive regulation of developmental process|
|regulation of protein phosphorylation|
|response to endogenous stimulus|
|regulation of response to stress|
|generation of neurons|
|regulation of apoptotic process|
|positive regulation of transcription, DNA-templated|
|regulation of programmed cell death|
|regulation of phosphorylation|
|extracellular space|
|positive regulation of cellular protein metabolic process|
|neurogenesis|
|positive regulation of nucleic acid-templated transcription|
|positive regulation of RNA biosynthetic process|
|cell development|
|positive regulation of signal transduction|
|regulation of cell death|
|positive regulation of protein metabolic process|
|positive regulation of RNA metabolic process|
|positive regulation of multicellular organismal process|
|regulation of phosphate metabolic process|
|regulation of phosphorus metabolic process|
|regulation of cell differentiation|
|positive regulation of cell communication|
|positive regulation of signaling|
|regulation of intracellular signal transduction|
|regulation of protein modification process|
|positive regulation of nucleobase-containing compound metabolic process|
|positive regulation of macromolecule biosynthetic process|
|positive regulation of cellular biosynthetic process|
|positive regulation of gene expression|
|positive regulation of biosynthetic process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp443|SNS-032 15μM R08 exp443]]|-2.07|
|[[:results:exp20|Etoposide 10μM R00 exp20]]|-1.79|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 4192
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -2.21 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='GDF6 Expression in NALM6 Cells: -2.21'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>