GENE NAME | ITGB4 |
CHROMOSOME | 17 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000132470 |
UNIPROT ACCESSION NUMBER | P16144 |
GO MOLECULAR FUNCTION | ['integrin binding', 'protein binding', 'G protein-coupled receptor binding', 'neuregulin binding', 'insulin-like growth factor I binding'] |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa04151; hsa04510; hsa04512; hsa04810; hsa05165; hsa05410; hsa05412; hsa05414; hsa04151; hsa04510; hsa04512; hsa04810; hsa05165; hsa05410; hsa05412; hsa05414; R-HSA-1474244; R-HSA-1474290; R-HSA-1500931; R-HSA-2022090; R-HSA-3000157; R-HSA-3000170; R-HSA-3000171; R-HSA-446107; R-HSA-446728 |
2 combinations linked to ITGB4 | OLI1685; OLI1681 |
2 variants linked to ITGB4 | ITGB4:c.916T>C, p.Ser306Pro; ITGB4:c.3265G>C, p.Gly1089Arg |
1 disease linked to ITGB4 | Non-Syndromic genetic keratoconus |