Tbio COL1A2 Collagen alpha-2(I) chain

Protein Summary

Description

Type I collagen is a member of group I collagen (fibrillar forming collagen). This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]

Uniprot Accession IDs

• P08123
• P02464
• Q13897
• Q13997
• Q13998
• Q14038
• Q14057
• Q15177
• Q15947
• Q16480
• Q16511
• Q7Z5S6
• Q9UEB6
• Q9UEF9
• Q9UM83
• Q9UMI1
• Q9UML5
• Q9UMM6
• Q9UPH0

Gene Name

• COL1A2

Ensembl ID

• ENST00000297268
• ENSP00000297268
• ENSG00000164692

Symbol

• OI4
• EDSCV
• EDSARTH2

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
transcription factor perturbation	0.99
biological term	0.93
disease perturbation	0.93
disease	0.91
kinase perturbation	0.88

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: 2081.93   (req: < 5)

Gene RIFs: 217   (req: <= 3)

Antibodies: 368   (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: 2081.93   (req: >= 5)

Gene RIFs: 217   (req: > 3)

Antibodies: 368   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 24

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