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COL1A2

Gene

collagen type I alpha 2 chain

HGNCHGNC:2198EnsemblENSG00000164692NCBI Gene1278
Locus: gene with protein productLocation: 7q21.3

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asOI4
View full nomenclature history (9)
Previous symbolsOI4
Previous namesosteogenesis imperfecta type IV, collagen, type I, alpha 2, collagen type I alpha 2
Alias namesalpha 2(I)-collagen, alpha-2 collagen type I, type I procollagen, collagen I, alpha-2 polypeptide, collagen of skin, tendon and bone, alpha-2 chain

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Osteogenesis Imperfecta
Osteoporosis
Ehlers-Danlos Syndrome

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

Fibrillar collagens

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-01-20.
Open TargetsGene–disease associations from the Open Targets Platform.