======= COL1A2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: COL1A2
  * **<color #00a2e8>Official Name</color>**: collagen type I 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=1278|1278]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P08123|P08123]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=COL1A2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20COL1A2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/120160|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 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'>
|COLFI|
|Collagen|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|collagen type I trimer|
|skin morphogenesis|
|platelet-derived growth factor binding|
|protein heterotrimerization|
|extracellular matrix assembly|
|extracellular matrix structural constituent conferring tensile strength|
|collagen fibril organization|
|bone mineralization|
|SMAD binding|
|protein trimerization|
|collagen metabolic process|
|cellular response to amino acid stimulus|
|Rho protein signal transduction|
|protein binding, bridging|
|biomineral tissue development|
|biomineralization|
|protease binding|
|transforming growth factor beta receptor signaling pathway|
|protein heterooligomerization|
|response to amino acid|
|odontogenesis|
|extracellular matrix structural constituent|
|platelet activation|
|cellular response to transforming growth factor beta stimulus|
|response to transforming growth factor beta|
|regulation of blood pressure|
|transmembrane receptor protein serine/threonine kinase signaling pathway|
|cellular response to acid chemical|
|extracellular matrix|
|Ras protein signal transduction|
|ossification|
|blood coagulation|
|coagulation|
|hemostasis|
|endoplasmic reticulum lumen|
|small GTPase mediated signal transduction|
|extracellular matrix organization|
|response to acid chemical|
|collagen-containing extracellular matrix|
|leukocyte migration|
|skin development|
|extracellular structure organization|
|blood circulation|
|circulatory system process|
|supramolecular fiber organization|
|wound healing|
|blood vessel development|
|skeletal system development|
|regulation of body fluid levels|
|cellular response to growth factor stimulus|
|vasculature development|
|cardiovascular system development|
|protein complex oligomerization|
|response to growth factor|
|response to wounding|
|cellular response to organonitrogen compound|
|cellular response to nitrogen compound|
|cytokine-mediated signaling pathway|
|enzyme linked receptor protein signaling pathway|
|circulatory system development|
|animal organ morphogenesis|
|cell migration|
|response to organonitrogen compound|
|cellular response to cytokine stimulus|
|endoplasmic reticulum|
|cellular response to oxygen-containing compound|
|identical protein binding|
|cell activation|
|cell motility|
|localization of cell|
|response to nitrogen compound|
|response to cytokine|
|regulation of immune response|
|cellular response to endogenous stimulus|
|locomotion|
|response to endogenous stimulus|
|movement of cell or subcellular component|
|response to oxygen-containing compound|
|protein-containing complex assembly|
|extracellular space|
|regulation of immune system process|
|intracellular signal transduction|
|tissue development|
|protein-containing complex subunit organization|
|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>**: 5323
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 1.8 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='COL1A2 Expression in NALM6 Cells: 1.8'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>