COL1A2 Chromosome 7
Collagen type I alpha 2 chain
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What This Gene Does
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]
Gene Info
Gene Group
Fibrillar collagens
Locus Type
gene with protein product
Location
7q21.3
Ensembl
ENSG00000164692
Associated Conditions (42)
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome
classic type
1
COL1A2-related disorder
Cardiovascular phenotype
Osteogenesis imperfecta
arthrochalasia type
2
perinatal lethal
Connective tissue disorder
cardiac valvular type
Intellectual disability
6 conditions
7 conditions
Predisposition to dissection
Osteogenesis imperfecta type III
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
Osteogenesis imperfecta with normal sclerae
dominant form
+22 more conditions
Key Variants
RS1017077909
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, classic type
Health Risk
RS1021622151
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, classic type
Health Risk
RS1064793527
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, classic type
Health Risk
RS1064797337
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, classic type, 1
Health Risk
RS114322680
Conflicting classifications of pathogenicity
Osteogenesis imperfecta, Ehlers-Danlos syndrome, arthrochalasia type
Health Risk
RS121912908
Conflicting classifications of pathogenicity
Osteogenesis imperfecta, perinatal lethal, Cardiovascular phenotype
Health Risk
RS1226079110
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, classic type
Health Risk
RS1228519738
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, classic type
Health Risk
RS1288784071
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
Health Risk
RS1292046736
Conflicting classifications of pathogenicity
Connective tissue disorder, Ehlers-Danlos syndrome, classic type
Health Risk
RS138357977
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, classic type
Health Risk
RS139446305
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, arthrochalasia type, 2
Health Risk
All Variants (581)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2115921523 | Health Risk | Pathogenic | Osteogenesis imperfecta, perinatal lethal, Osteogenesis imperfecta |
| RS2115921786 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic type, 1 |
| RS2115924247 | Health Risk | Pathogenic | Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, classic type |
| RS2115924495 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic type, 1 |
| RS2115930608 | Health Risk | Pathogenic | — |
| RS2115933691 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic type, 1 |
| RS2115936945 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic type, 1 |
| RS2115937116 | Health Risk | Pathogenic | Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS2115940948 | Health Risk | Pathogenic | Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, classic type |
| RS2115941689 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic type, 1 |
| RS2115946426 | Health Risk | Pathogenic | Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, classic type |
| RS2115953343 | Health Risk | Pathogenic | Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, classic type |
| RS2115957747 | Health Risk | Pathogenic | Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, classic type |
| RS2115959468 | Health Risk | Pathogenic | Osteogenesis imperfecta with normal sclerae, dominant form, Osteogenesis imperfecta with normal sclerae |
| RS2115959926 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic type, 1 |
| RS2115961955 | Health Risk | Pathogenic | — |
| RS2115962248 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic type, 1 |
| RS2484700107 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic type, 1 |
| RS2484700598 | Health Risk | Pathogenic | Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, classic type |
| RS2484700681 | Health Risk | Pathogenic | Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, classic type |
| RS2484702701 | Health Risk | Pathogenic | Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, classic type |
| RS2484705896 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic type, 1 |
| RS2484707621 | Health Risk | Pathogenic | Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, classic type |
| RS2484707689 | Health Risk | Pathogenic | Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, classic type |
| RS2484707979 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic type, 1 |
| RS2484708037 | Health Risk | Pathogenic | Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, classic type |
| RS2484708228 | Health Risk | Pathogenic | Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, classic type |
| RS2484708420 | Health Risk | Pathogenic | Osteogenesis imperfecta with normal sclerae, dominant form, Osteogenesis imperfecta with normal sclerae |
| RS2484709345 | Health Risk | Pathogenic | — |
| RS2484712486 | Health Risk | Pathogenic | Osteogenesis imperfecta with normal sclerae, dominant form, Osteogenesis imperfecta with normal sclerae |
| RS2484713607 | Health Risk | Pathogenic | Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, classic type |
| RS2484714527 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic type, 1 |
| RS2484716719 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic type, 1 |
| RS2484716722 | Health Risk | Pathogenic | Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS2484716774 | Health Risk | Pathogenic | Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, classic type |
| RS2484719924 | Health Risk | Pathogenic | Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, classic type |
| RS2484721766 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic type, 1 |
| RS2484722803 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic type, 1 |
| RS2484723993 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic type, 1 |
| RS2484725181 | Health Risk | Pathogenic | Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, classic type |
| RS2484725715 | Health Risk | Pathogenic | COL1A2-related disorder, Osteogenesis imperfecta type I, COL1A2-related disorder |
| RS2484729507 | Health Risk | Pathogenic | — |
| RS2484731890 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic type, 1 |
| RS2484734370 | Health Risk | Pathogenic | Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, classic type |
| RS2484737368 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic type, 1 |
| RS2484737810 | Health Risk | Pathogenic | Osteogenesis imperfecta with normal sclerae, dominant form, Osteogenesis imperfecta with normal sclerae |
| RS267606741 | Health Risk | Pathogenic | Osteogenesis imperfecta, perinatal lethal, Osteogenesis imperfecta |
| RS267606742 | Health Risk | Pathogenic | Osteogenesis imperfecta type III, Osteogenesis imperfecta type III |
| RS66507857 | Health Risk | Pathogenic | — |
| RS66516450 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic type, 1 |