======= 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 |}}