The col1a2 gene encodes the alpha-2 chain of type I collagen, a fibrillar collagen protein which is a major structural component of the extracellular matrix. It forms heterotrimers with two alpha-1 cha...[+]

The col1a2 gene encodes the alpha-2 chain of type I collagen, a fibrillar collagen protein which is a major structural component of the extracellular matrix. It forms heterotrimers with two alpha-1 chains to assemble into collagen fibrils that provide tensile strength to tissues. This protein is localized to the extracellular space. Expression is observed in the developing notochord, somites, fin mesenchyme, and cement gland. [-]

             osteogenesis imperfecta type 3
             osteogenesis imperfecta type 4
             osteogenesis imperfecta type 2
             osteoporosis
             Ehlers-Danlos syndrome arthrochalasia type 2
             Ehlers-Danlos syndrome arthrochalasia type 1

          EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1; EDSARTH1
          OSTEOGENESIS IMPERFECTA, TYPE III; OI3
          EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE; EDSCV
          OSTEOGENESIS IMPERFECTA, TYPE IV; OI4
          OSTEOGENESIS IMPERFECTA, TYPE II; OI2
          EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2; EDSARTH2

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD