| GENE NAME | COL5A3 |
| CHROMOSOME | 19 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000080573 |
| UNIPROT ACCESSION NUMBER | P25940 |
| GO MOLECULAR FUNCTION | ['extracellular matrix structural constituent conferring tensile strength', 'heparin binding', 'collagen binding', 'proteoglycan binding', 'extracellular matrix structural constituent'] |
| ESSENTIAL IN MOUSE | Non-essential |
| PATHWAYS | hsa04974; R-HSA-1266738; R-HSA-1442490; R-HSA-1474228; R-HSA-1474244; R-HSA-1474290; R-HSA-162582; R-HSA-1650814; R-HSA-186797; R-HSA-2022090; R-HSA-216083; R-HSA-3000170; 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 |
| 1 combination linked to COL5A3 | OLI1694 |
| 1 variant linked to COL5A3 | COL5A3:c.2194G>A, p.Glu732Lys |
| 1 disease linked to COL5A3 | Non-Syndromic genetic keratoconus |