ELN [The Human Chemical-Genetic Interaction Map Project]

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======= ELN =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: ELN
  * **<color #00a2e8>Official Name</color>**: elastin
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2006|2006]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P15502|P15502]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=ELN&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ELN|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/130160|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a protein that is one of the two components of elastic fibers. Elastic fibers comprise part of the extracellular matrix and confer elasticity to organs and tissues including the heart, skin, lungs, ligaments, and blood vessels. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Degradation products of the encoded protein, known as elastin-derived peptides or elastokines, bind the elastin receptor complex and other receptors and stimulate migration and proliferation of monocytes and skin fibroblasts. Elastokines can also contribute to cancer progression. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. [provided by RefSeq, Aug 2017]. 
  * **<color #00a2e8>UniProt Summary</color>**: N/A

<button type='default' 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'>
No Pfam Domain information is available for this gene.
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|elastic fiber|
|extracellular matrix constituent conferring elasticity|
|contractile actin filament bundle assembly|
|stress fiber assembly|
|aortic valve morphogenesis|
|extracellular matrix binding|
|aortic valve development|
|semi-lunar valve development|
|respiratory gaseous exchange by respiratory system|
|heart valve morphogenesis|
|heart valve development|
|actin filament bundle assembly|
|actin filament bundle organization|
|outflow tract morphogenesis|
|actomyosin structure organization|
|skeletal muscle tissue development|
|extracellular matrix structural constituent|
|regulation of smooth muscle cell proliferation|
|skeletal muscle organ development|
|regulation of actin filament polymerization|
|regulation of actin polymerization or depolymerization|
|regulation of actin filament length|
|regulation of protein polymerization|
|extracellular matrix|
|actin filament organization|
|heart morphogenesis|
|regulation of actin filament organization|
|striated muscle tissue development|
|muscle organ development|
|muscle tissue development|
|extracellular matrix organization|
|regulation of actin cytoskeleton organization|
|regulation of supramolecular fiber organization|
|collagen-containing extracellular matrix|
|regulation of cellular component size|
|extracellular structure organization|
|regulation of actin filament-based process|
|blood circulation|
|circulatory system process|
|regulation of protein complex assembly|
|supramolecular fiber organization|
|muscle structure development|
|actin cytoskeleton organization|
|regulation of anatomical structure size|
|heart development|
|regulation of cytoskeleton organization|
|actin filament-based process|
|circulatory system development|
|animal organ morphogenesis|
|regulation of cellular component biogenesis|
|cytoskeleton organization|
|regulation of organelle organization|
|regulation of cell population proliferation|
|tissue development|
|extracellular region|
|system process|
</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>**: 9772
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 2.18 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='ELN Expression in NALM6 Cells: 2.18'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>