COL11A2
Gene Information
- Official Symbol: COL11A2
- Official Name: collagen type XI alpha 2 chain
- Aliases and Previous Symbols: N/A
- Entrez ID: 1302
- UniProt: P13942
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: 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
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 5592
- Expression level (log2 read counts): 3.25
COL11A2 Expression in NALM6 Cells: 3.25
