COL1A2
Musculoskeletal System · Collagen Fibrillogenesis & Connective Tissue Tensile Strength
How does COL1A2 work with COL1A1?
COL1A2 makes the alpha2 chain of type I collagen, complementing chains made by COL1A1. Their assembly produces a structural protein used throughout load-bearing connective tissues.
- Common Gene Name
- collagen type I alpha 2 chain
- NCBI Gene ID
- 1278
- Chromosome
- 7
Clinical Evidence Status
Established disease relationship
These labels describe available evidence about a gene. They do not classify your variant or recommend a treatment.
Answer Sources
Explore supporting evidence (6 records)
| Condition or drug | Evidence | Grade / status | Context | Source |
|---|---|---|---|---|
| congenital heart disease | ClinGen gene-disease validity | Disputed | UD | View source 2024-09-09 |
| COL1A2-related Ehlers-Danlos syndrome | ClinGen gene-disease validity | Definitive | Autosomal dominant | View source 2022-11-02 |
| COL1A2-related osteogenesis imperfecta | ClinGen gene-disease validity | Definitive | Autosomal dominant | View source 2022-12-05 |
| Ehlers-Danlos syndrome, cardiac valvular type | ClinGen gene-disease validity | Definitive | Autosomal recessive | View source 2023-09-28 |
| Ehlers-Danlos syndrome | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2019-11 | |
| Osteogenesis imperfecta | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2019-11 |
Source snapshot: 2026-09-09. Consumer text updated: 2026-09-10. Source dates describe the cited records, not a new clinical review.
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