| GENE NAME | COL6A2 |
| CHROMOSOME | 21 |
| ENSEMBL ID | ENSG00000142173 |
| ENTREZ ID | 1292 |
| UNIPROT ACCESSION NUMBER | P12110 |
| GO MOLECULAR FUNCTION | collagen binding; protein binding; extracellular matrix structural constituent conferring tensile strength |
| ESSENTIAL IN MOUSE | None |
| PATHWAYS | R-HSA-1474228; R-HSA-1442490; R-HSA-1474244; R-HSA-216083; R-HSA-1650814; hsa05165; R-HSA-1474290; R-HSA-1266738; R-HSA-2022090; R-HSA-3000178; R-HSA-8948216; R-HSA-9006934; R-HSA-162582; hsa04510; R-HSA-419037; R-HSA-186797; hsa04151; hsa04974; R-HSA-422475; R-HSA-375165; R-HSA-9675108; hsa04512 |
| 3 combinations linked to COL6A2 | OLI016; OLI1070; OLI1059 |
| 3 variants linked to COL6A2 | COL6A2:c.1063G>T, p.Gly355Cys; COL6A2:c.343C>T, p.Arg115Trp; COL6A2:c.2575G>A, p.Val859Met |
| 2 diseases linked to COL6A2 | Primary ovarian failure; Limb-girdle muscular dystrophy |