| GENE NAME | COL2A1 |
| CHROMOSOME | 12 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000139219 |
| UNIPROT ACCESSION NUMBER | P02458 |
| GO MOLECULAR FUNCTION | ['MHC class II protein binding', 'extracellular matrix structural constituent conferring tensile strength', 'platelet-derived growth factor binding', 'proteoglycan binding', 'metal ion binding', 'identical protein binding', 'extracellular matrix structural constituent'] |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | hsa04151; hsa04510; hsa04512; hsa04974; hsa05165; R-HSA-1266738; R-HSA-1280218; R-HSA-1442490; R-HSA-1474228; R-HSA-1474244; R-HSA-1474290; R-HSA-162582; R-HSA-1650814; R-HSA-168256; R-HSA-186797; R-HSA-198933; R-HSA-2022090; R-HSA-216083; R-HSA-3000171; R-HSA-3000178; R-HSA-375165; R-HSA-419037; R-HSA-422475; R-HSA-6806834; R-HSA-8874081; R-HSA-8875878; R-HSA-8948216; R-HSA-9006934; R-HSA-9675108 |
| 3 combinations linked to COL2A1 | OLI1678; OLI679; OLI681 |
| 3 variants linked to COL2A1 | COL2A1:c.203G>A, p.Arg68His; COL2A1:p.Pro365Ser; COL2A1:c.402G>A, p.Met134Ile |
| 2 diseases linked to COL2A1 | Holoprosencephaly; Non-Syndromic genetic keratoconus |