======= COL11A2 =======
== Gene Information ==
* **Official Symbol**: COL11A2
* **Official Name**: collagen type XI alpha 2 chain
* **Aliases and Previous Symbols**: N/A
* **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=1302|1302]]
* **UniProt**: [[https://www.uniprot.org/uniprot/P13942|P13942]]
* **Interactions**: [[https://thebiogrid.org/search.php?search=COL11A2&organism=9606|BioGRID]]
* **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20COL11A2|Open PubMed]]
* **OMIM**: [[https://omim.org/entry/120290|Open OMIM]]
== Function Summary ==
* **Entrez Summary**: This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13), and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53). Alternative splicing results in multiple transcript variants. A related pseudogene is located nearby on chromosome 6. [provided by RefSeq, Jul 2009].
* **UniProt Summary**: N/A
|Laminin G 2|
|COLFI|
|Collagen|
|collagen type XI trimer|
|soft palate development|
|secondary palate development|
|extracellular matrix structural constituent conferring tensile strength|
|collagen fibril organization|
|collagen trimer|
|protein binding, bridging|
|roof of mouth development|
|extracellular matrix structural constituent|
|sensory perception of sound|
|sensory perception of mechanical stimulus|
|cartilage development|
|connective tissue development|
|extracellular matrix|
|endoplasmic reticulum lumen|
|extracellular matrix organization|
|collagen-containing extracellular matrix|
|extracellular structure organization|
|supramolecular fiber organization|
|skeletal system development|
|sensory perception|
|nervous system process|
|extracellular space|
|tissue development|
|protein-containing complex subunit organization|
|extracellular region|
|system process|
\\
=== CRISPR Data ===
No hits were found.
No correlation found to any other genes in chemogenomics.
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|
== Essentiality in NALM6 ==
* **Essentiality Rank**: 5592
* **Expression level (log2 read counts)**: 3.25
{{:chemogenomics:nalm6 dist.png?nolink |}}