======= COL6A3 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: COL6A3
  * **<color #00a2e8>Official Name</color>**: collagen type VI alpha 3 chain
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=1293|1293]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P12111|P12111]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=COL6A3&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20COL6A3|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/120250|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. 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 the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]. 
  * **<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|
|Kunitz BPTI|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|collagen type VI trimer|
|chondrocyte morphogenesis involved in endochondral bone morphogenesis|
|chondrocyte 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|
|extracellular vesicle|
|endochondral bone morphogenesis|
|chondrocyte differentiation|
|serine-type endopeptidase inhibitor activity|
|organ growth|
|sarcolemma|
|bone morphogenesis|
|cartilage development|
|bone development|
|connective tissue development|
|extracellular matrix|
|skeletal system morphogenesis|
|negative regulation of endopeptidase activity|
|negative regulation of peptidase activity|
|muscle organ development|
|endoplasmic reticulum lumen|
|extracellular matrix organization|
|negative regulation of proteolysis|
|collagen-containing extracellular matrix|
|extracellular structure organization|
|developmental growth|
|growth|
|regulation of endopeptidase activity|
|regulation of peptidase activity|
|negative regulation of hydrolase activity|
|muscle structure development|
|skeletal system development|
|cell morphogenesis involved in differentiation|
|tissue morphogenesis|
|cell morphogenesis|
|regulation of proteolysis|
|negative regulation of catalytic activity|
|cellular component morphogenesis|
|cell adhesion|
|biological adhesion|
|animal organ morphogenesis|
|negative regulation of cellular protein metabolic process|
|negative regulation of protein metabolic process|
|negative regulation of molecular function|
|regulation of hydrolase activity|
|extracellular space|
|cell development|
|tissue development|
|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:exp273|Cisplatin 0.35μM R06 exp273]]|-2.18|
</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>**: 4393
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 3.09 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='COL6A3 Expression in NALM6 Cells: 3.09'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>