Tbio COL11A2 Collagen alpha-2(XI) chain

Protein Summary

Description

May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils. 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 Accession IDs

• P13942
• A6NLX2
• E7ER90
• Q07751
• Q13271
• Q13272
• Q13273
• Q5JP94
• Q5SUI8
• Q7Z6C3
• Q99866
• Q9UIP9

Gene Name

• COL11A2

Ensembl ID

• ENST00000383087
• ENSP00000372565
• ENSG00000227801
• ENST00000383088
• ENSP00000372566
• ENSG00000206290
• ENST00000395194
• ENSP00000378620
• ENSG00000204248
• ENST00000439039
• ENSP00000410284
• ENST00000447741
• ENSP00000400813
• ENSG00000235708
• ENST00000452937
• ENSP00000406347
• ENSG00000230930
• ENST00000549811
• ENSP00000449275
• ENST00000551542
• ENSP00000447864

Symbol

• HKE5
• PARP
• STL3
• FBCG2
• DFNA13
• DFNB53
• OSMEDA
• OSMEDB

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
phenotype	0.74
cell line	0.72
disease	0.68
disease perturbation	0.68
gene perturbation	0.65

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 112.15   (req: < 5)

Gene RIFs: 32   (req: <= 3)

Antibodies: 248   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 112.15   (req: >= 5)

Gene RIFs: 32   (req: > 3)

Antibodies: 248   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 11

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0