======= GDF5 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: GDF5
  * **<color #00a2e8>Official Name</color>**: growth differentiation factor 5
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=8200|8200]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P43026|P43026]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=GDF5&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20GDF5|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/601146|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 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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Growth factor involved in bone and cartilage formation. During cartilage development regulates differentiation of chondrogenic tissue through two pathways. Firstly, positively regulates differentiation of chondrogenic tissue through its binding of high affinity with BMPR1B and of less affinity with BMPR1A, leading to induction of SMAD1-SMAD5-SMAD8 complex phosphorylation and then SMAD protein signaling transduction (PubMed:24098149, PubMed:21976273, PubMed:15530414, PubMed:25092592). Secondly, negatively regulates chondrogenic differentiation through its interaction with NOG (PubMed:21976273). Required to prevent excessive muscle loss upon denervation. This function requires SMAD4 and is mediated by phosphorylated SMAD1/5/8 (By similarity). Binds bacterial lipopolysaccharide (LPS) and mediates LPS-induced inflammatory response, including TNF secretion by monocytes (PubMed:11276205). {ECO:0000250|UniProtKB:P43027, ECO:0000269|PubMed:11276205, ECO:0000269|PubMed:15530414, ECO:0000269|PubMed:19229295, ECO:0000269|PubMed:19956691, ECO:0000269|PubMed:21976273, ECO:0000269|PubMed:24098149, ECO:0000269|PubMed:25092592}.

<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'>
|TGFb propeptide|
|TGF beta|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|chondroblast differentiation|
|ossification involved in bone remodeling|
|negative regulation of mesenchymal cell apoptotic process|
|BMP binding|
|regulation of mesenchymal cell apoptotic process|
|positive regulation of chondrocyte differentiation|
|negative regulation of chondrocyte differentiation|
|regulation of SMAD protein signal transduction|
|negative regulation of cartilage development|
|positive regulation of BMP signaling pathway|
|positive regulation of cartilage development|
|hindlimb morphogenesis|
|forelimb morphogenesis|
|transforming growth factor beta receptor binding|
|bone remodeling|
|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 multicellular organism growth|
|regulation of cartilage development|
|regulation of BMP signaling pathway|
|BMP signaling pathway|
|tissue remodeling|
|transforming growth factor beta receptor signaling pathway|
|positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway|
|cellular response to BMP stimulus|
|response to BMP|
|negative regulation of epithelial cell proliferation|
|embryonic limb morphogenesis|
|embryonic appendage morphogenesis|
|negative regulation of neuron apoptotic process|
|limb morphogenesis|
|appendage morphogenesis|
|cellular response to transforming growth factor beta stimulus|
|response to transforming growth factor beta|
|growth factor activity|
|cartilage development|
|cytokine activity|
|appendage development|
|limb development|
|transmembrane receptor protein serine/threonine kinase signaling pathway|
|negative regulation of neuron death|
|regulation of neuron apoptotic process|
|response to mechanical stimulus|
|connective tissue development|
|regulation of transmembrane receptor protein serine/threonine kinase signaling pathway|
|ossification|
|regulation of cellular response to growth factor stimulus|
|regulation of neuron death|
|regulation of developmental growth|
|regulation of epithelial cell proliferation|
|positive regulation of neuron differentiation|
|positive regulation of neurogenesis|
|skeletal system development|
|cellular response to growth factor stimulus|
|response to growth factor|
|positive regulation of nervous system development|
|positive regulation of cell development|
|embryonic morphogenesis|
|regulation of neuron differentiation|
|regulation of growth|
|negative regulation of cell population proliferation|
|negative regulation of cell differentiation|
|enzyme linked receptor protein signaling pathway|
|regulation of MAPK cascade|
|regulation of neurogenesis|
|negative regulation of apoptotic process|
|negative regulation of programmed cell death|
|regulation of nervous system development|
|regulation of cell development|
|negative regulation of developmental process|
|positive regulation of cell differentiation|
|embryo development|
|negative regulation of cell death|
|positive regulation of protein phosphorylation|
|positive regulation of phosphorylation|
|identical protein binding|
|cell-cell signaling|
|positive regulation of phosphate metabolic process|
|positive regulation of phosphorus metabolic process|
|response to abiotic stimulus|
|negative regulation of multicellular organismal process|
|cellular response to endogenous stimulus|
|positive regulation of protein modification process|
|positive regulation of developmental process|
|regulation of protein phosphorylation|
|response to endogenous stimulus|
|generation of neurons|
|regulation of apoptotic process|
|regulation of programmed cell death|
|regulation of phosphorylation|
|extracellular space|
|positive regulation of cellular protein metabolic process|
|regulation of cell population proliferation|
|neurogenesis|
|cell development|
|positive regulation of signal transduction|
|regulation of cell death|
|positive regulation of protein metabolic process|
|positive regulation of multicellular organismal process|
|tissue development|
|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|
|extracellular region|
</modal>
\\

 === CRISPR Data ===
<button type='default' 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'>
No hits were found.
</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>**: 10674
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -1.19 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='GDF5 Expression in NALM6 Cells: -1.19'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>