SMAD6 [The Human Chemical-Genetic Interaction Map Project]

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======= SMAD6 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: SMAD6
  * **<color #00a2e8>Official Name</color>**: SMAD family member 6
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=4091|4091]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O43541|O43541]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=SMAD6&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20SMAD6|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/602931|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The protein encoded by this gene belongs to the SMAD family of proteins, which are related to Drosophila 'mothers against decapentaplegic' (Mad) and C. elegans Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions in the negative regulation of BMP and TGF-beta/activin-signalling. Multiple transcript variants have been found for this gene.[provided by RefSeq, Sep 2014]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Acts as a mediator of TGF-beta and BMP antiflammatory activity. Suppresses IL1R-TLR signaling through its direct interaction with PEL1, preventing NF-kappa-B activation, nuclear transport and NF-kappa-B-mediated expression of proinflammatory genes. May block the BMP-SMAD1 signaling pathway by competing with SMAD4 for receptor-activated SMAD1-binding. Binds to regulatory elements in target promoter regions. {ECO:0000269|PubMed:16491121, ECO:0000269|PubMed:16951688, ECO:0000269|PubMed:9436979}.

<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'>
|MH1|
|MH2|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|
|type I activin receptor binding|
|zygotic specification of dorsal/ventral axis|
|negative regulation of SMAD protein complex assembly|
|regulation of SMAD protein complex assembly|
|mitral valve morphogenesis|
|dorsal/ventral axis specification|
|type I transforming growth factor beta receptor binding|
|mitral valve development|
|negative regulation of pathway-restricted SMAD protein phosphorylation|
|I-SMAD binding|
|co-SMAD binding|
|response to laminar fluid shear stress|
|pulmonary valve morphogenesis|
|pulmonary valve development|
|R-SMAD binding|
|atrioventricular valve morphogenesis|
|atrioventricular valve development|
|aortic valve morphogenesis|
|outflow tract septum morphogenesis|
|positive regulation of pri-miRNA transcription by RNA polymerase II|
|aortic valve development|
|response to fluid shear stress|
|embryonic axis specification|
|semi-lunar valve development|
|regulation of pri-miRNA transcription by RNA polymerase II|
|negative regulation of osteoblast differentiation|
|coronary vasculature development|
|negative regulation of BMP signaling pathway|
|aorta development|
|heart valve morphogenesis|
|regulation of pathway-restricted SMAD protein phosphorylation|
|heart valve development|
|embryonic pattern specification|
|ventricular septum development|
|cardiac septum morphogenesis|
|outflow tract morphogenesis|
|negative regulation of transforming growth factor beta receptor signaling pathway|
|negative regulation of ossification|
|response to estrogen|
|negative regulation of cellular response to transforming growth factor beta stimulus|
|dorsal/ventral pattern formation|
|axis specification|
|artery development|
|ureteric bud development|
|mesonephric tubule development|
|mesonephric epithelium development|
|regulation of BMP signaling pathway|
|BMP signaling pathway|
|mesonephros development|
|transforming growth factor beta receptor signaling pathway|
|cellular response to BMP stimulus|
|response to BMP|
|fat cell differentiation|
|cardiac septum development|
|regulation of osteoblast differentiation|
|regulation of transforming growth factor beta receptor signaling pathway|
|regulation of cellular response to transforming growth factor beta stimulus|
|negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway|
|cardiac chamber morphogenesis|
|cardiac ventricle development|
|kidney epithelium development|
|negative regulation of protein complex assembly|
|negative regulation of cellular response to growth factor stimulus|
|cellular response to transforming growth factor beta stimulus|
|response to transforming growth factor beta|
|cardiac chamber development|
|cell-substrate adhesion|
|regulation of ossification|
|transmembrane receptor protein serine/threonine kinase signaling pathway|
|transcription factor complex|
|transcription regulatory region DNA binding|
|regulation of transmembrane receptor protein serine/threonine kinase signaling pathway|
|heart morphogenesis|
|kidney development|
|regulation of cellular response to growth factor stimulus|
|nuclear body|
|renal system development|
|ubiquitin protein ligase binding|
|response to lipopolysaccharide|
|urogenital system development|
|response to molecule of bacterial origin|
|regionalization|
|chromatin binding|
|negative regulation of protein phosphorylation|
|pattern specification process|
|negative regulation of phosphorylation|
|regulation of protein complex assembly|
|blood vessel development|
|cellular response to growth factor stimulus|
|RNA polymerase II proximal promoter sequence-specific DNA binding|
|vasculature development|
|cardiovascular system development|
|heart development|
|response to growth factor|
|negative regulation of phosphate metabolic process|
|negative regulation of phosphorus metabolic process|
|negative regulation of protein modification process|
|protein-containing complex|
|negative regulation of cell population proliferation|
|response to bacterium|
|negative regulation of cellular component organization|
|negative regulation of cell differentiation|
|enzyme linked receptor protein signaling pathway|
|tube development|
|response to lipid|
|circulatory system development|
|negative regulation of apoptotic process|
|negative regulation of programmed cell death|
|cell adhesion|
|biological adhesion|
|negative regulation of developmental process|
|animal organ morphogenesis|
|regulation of cellular component biogenesis|
|embryo development|
|Golgi apparatus|
|negative regulation of cell death|
|negative regulation of cellular protein metabolic process|
|identical protein binding|
|negative regulation of protein metabolic process|
|epithelium development|
|negative regulation of multicellular organismal process|
|positive regulation of transcription by RNA polymerase II|
|cellular response to endogenous stimulus|
|negative regulation of signal transduction|
|response to other organism|
|response to external biotic stimulus|
|response to biotic stimulus|
|negative regulation of cell communication|
|negative regulation of signaling|
|regulation of protein phosphorylation|
|response to endogenous stimulus|
|regulation of apoptotic process|
|positive regulation of transcription, DNA-templated|
|response to oxygen-containing compound|
|DNA-binding transcription factor activity, RNA polymerase II-specific|
|regulation of programmed cell death|
|regulation of phosphorylation|
|regulation of cell population proliferation|
|negative regulation of response to stimulus|
|positive regulation of nucleic acid-templated transcription|
|positive regulation of RNA biosynthetic process|
|regulation of cell death|
|positive regulation of RNA metabolic process|
|tissue development|
|regulation of phosphate metabolic process|
|regulation of phosphorus metabolic process|
|regulation of cell differentiation|
|regulation of protein modification process|
|immune response|
|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:exp73|LJH685 5μM R02 exp73]]|1.99|
|[[:results:exp36|TRAIL 50ng/ml R00 exp36]]|2.17|
</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: 1/739
^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|1/33|
|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>**: 9680
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 2.64 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='SMAD6 Expression in NALM6 Cells: 2.64'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>