COL8A2 [The Human Chemical-Genetic Interaction Map Project]

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======= COL8A2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: COL8A2
  * **<color #00a2e8>Official Name</color>**: collagen type VIII alpha 2 chain
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=1296|1296]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P25067|P25067]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=COL8A2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20COL8A2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/120252|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes the alpha 2 chain of type VIII collagen. This protein is a major component of the basement membrane of the corneal endothelium and forms homo- or heterotrimers with alpha 1 (VIII) type collagens. Defects in this gene are associated with Fuchs endothelial corneal dystrophy and posterior polymorphous corneal dystrophy type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Macromolecular component of the subendothelium. Major component of the Descemet's membrane (basement membrane) of corneal endothelial cells. Also component of the endothelia of blood vessels. Necessary for migration and proliferation of vascular smooth muscle cells and thus, has a potential role in the maintenance of vessel wall integrity and structure, in particular in atherogenesis (By similarity). {ECO:0000250}.

<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'>
|C1q|
|Collagen|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|extracellular matrix structural constituent conferring tensile strength|
|collagen trimer|
|protein binding, bridging|
|epithelial cell proliferation|
|basement membrane|
|camera-type eye morphogenesis|
|extracellular matrix structural constituent|
|eye morphogenesis|
|extracellular matrix|
|sensory organ morphogenesis|
|endoplasmic reticulum lumen|
|camera-type eye development|
|angiogenesis|
|extracellular matrix organization|
|eye development|
|visual system development|
|collagen-containing extracellular matrix|
|sensory system development|
|extracellular structure organization|
|blood vessel morphogenesis|
|blood vessel development|
|cell-cell adhesion|
|vasculature development|
|cardiovascular system development|
|sensory organ development|
|cell population proliferation|
|tube morphogenesis|
|tube development|
|circulatory system development|
|anatomical structure formation involved in morphogenesis|
|cell adhesion|
|biological adhesion|
|animal organ morphogenesis|
|extracellular space|
|extracellular region|
</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:exp350|Deferoxamine 11μM R07 exp350]]|-1.76|
|[[:results:exp318|ABT-702 5μM R07 exp318]]|-1.73|
</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>**: 4734
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 2.99 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='COL8A2 Expression in NALM6 Cells: 2.99'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>