Details for Gene ITGB4

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

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