COL6A2 [The Human Chemical-Genetic Interaction Map Project]

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======= COL6A2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: COL6A2
  * **<color #00a2e8>Official Name</color>**: collagen type VI 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=1292|1292]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P12110|P12110]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=COL6A2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20COL6A2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/120240|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**: N/A

<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'>
|Collagen|
|VWA|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|protein heterotrimerization|
|chondrocyte morphogenesis|
|chondrocyte morphogenesis involved in endochondral bone morphogenesis|
|growth plate cartilage chondrocyte morphogenesis|
|growth plate cartilage morphogenesis|
|chondrocyte development involved in endochondral bone morphogenesis|
|growth plate cartilage chondrocyte differentiation|
|cartilage morphogenesis|
|chondrocyte differentiation involved in endochondral bone morphogenesis|
|growth plate cartilage development|
|extracellular matrix structural constituent conferring tensile strength|
|endochondral bone growth|
|chondrocyte development|
|bone growth|
|cartilage development involved in endochondral bone morphogenesis|
|protein trimerization|
|extracellular vesicle|
|collagen trimer|
|endochondral bone morphogenesis|
|chondrocyte differentiation|
|organ growth|
|sarcolemma|
|protein heterooligomerization|
|bone morphogenesis|
|response to glucose|
|response to hexose|
|response to monosaccharide|
|response to carbohydrate|
|cartilage development|
|bone development|
|connective tissue development|
|extracellular matrix|
|skeletal system morphogenesis|
|endoplasmic reticulum lumen|
|extracellular matrix organization|
|collagen-containing extracellular matrix|
|extracellular structure organization|
|developmental growth|
|growth|
|skeletal system development|
|protein complex oligomerization|
|cell morphogenesis involved in differentiation|
|tissue morphogenesis|
|protein-containing complex|
|cell morphogenesis|
|cellular component morphogenesis|
|cell adhesion|
|biological adhesion|
|animal organ morphogenesis|
|response to oxygen-containing compound|
|protein-containing complex assembly|
|extracellular space|
|cell development|
|tissue development|
|protein-containing complex subunit organization|
|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:exp335|Aminopterin 0.005μM R07 exp335]]|2|
</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>**: 5801
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -3.35 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='COL6A2 Expression in NALM6 Cells: -3.35'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>