COL2A1
Collagen alpha-1(II) chain
Protein Summary
Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces. This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008]
- ENST00000337299
- ENSP00000338213
- ENSG00000139219
- ENST00000380518
- ENSP00000369889
- AOM
- ANFH
- SEDC
- STL1
- COL11A3
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
gene perturbation | 0.99 | ||
biological term | 0.94 | ||
PubMedID | 0.92 | ||
disease | 0.86 | ||
phenotype | 0.86 | ||
Protein Classes
IDG Development Level Summary
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: 1003.3 (req: < 5)
Gene RIFs: 213 (req: <= 3)
Antibodies: 668 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 1003.3 (req: >= 5)
Gene RIFs: 213 (req: > 3)
Antibodies: 668 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 32
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0