| GENE NAME | COL8A2 |
| CHROMOSOME | 1 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000171812 |
| UNIPROT ACCESSION NUMBER | P25067 |
| GO MOLECULAR FUNCTION | ['protein-macromolecule adaptor activity', 'extracellular matrix structural constituent conferring tensile strength', 'extracellular matrix structural constituent'] |
| ESSENTIAL IN MOUSE | Non-essential |
| PATHWAYS | hsa04974; R-HSA-1442490; R-HSA-1474228; R-HSA-1474244; R-HSA-1474290; R-HSA-1650814; R-HSA-2022090; R-HSA-216083; R-HSA-8948216 |
| 2 combinations linked to COL8A2 | OLI1692; OLI1673 |
| 2 variants linked to COL8A2 | COL8A2:c.567A>T, p.Glu189Asp; COL8A2:c.1645G>A, p.Gly549Ser |
| 1 disease linked to COL8A2 | Non-Syndromic genetic keratoconus |