Details for Gene COL4A5

GENE NAME COL4A5
CHROMOSOME X
ENSEMBL ID None
ENTREZ ID ENSG00000188153
UNIPROT ACCESSION NUMBER P29400
GO MOLECULAR FUNCTION ['extracellular matrix structural constituent conferring tensile strength', 'extracellular matrix structural constituent']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa04151; hsa04510; hsa04512; hsa04926; hsa04933; hsa04974; hsa05146; hsa05165; hsa05200; hsa05222; hsa04151; hsa04510; hsa04512; hsa04926; hsa04933; hsa04974; hsa05146; hsa05165; hsa05200; hsa05222; 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-2214320; R-HSA-2243919; R-HSA-3000157; R-HSA-3000171; R-HSA-3000178; R-HSA-375165; R-HSA-376176; R-HSA-419037; R-HSA-422475; R-HSA-8948216; R-HSA-9006934; R-HSA-9010553; R-HSA-9675108; hsa04151; hsa04510; hsa04512; hsa04926; hsa04933; hsa04974; hsa05146; hsa05165; hsa05200; hsa05222
18 combinations linked to COL4A5 OLI033; OLI385; OLI388; OLI1647; OLI156; OLI1646; OLI383; OLI386; OLI516; OLI916; OLI1645; OLI133; OLI1373; OLI1644; OLI504; OLI1374; OLI384; OLI387
15 variants linked to COL4A5 COL4A5:c.1339+3A>T, ; COL4A5:c.1871G>A, p.Gly624Asp; COL4A5:c.2605G>A, p.Gly869Arg; COL4A5:c.2858G>T, p.Gly953Val; COL4A5:c.1931G>A, p.Gly644Asp; COL4A5:c.4042G>A, p.Gly1348Arg; COL4A5:c.2051G>T, p.Gly684Val; COL4A5:c.1960G>T, p.Asp654Tyr; COL4A5:c.2732G>A, p.Gly911Glu; COL4A5:c.1417_1418del, p.Val473GlufsTer3; COL4A5:c.1374delinsTT, p.Pro459SerfsTer6; COL4A5:c.2683delA, p.Lys895LysfsTer6; COL4A5:c.3052G>T, p.Gly1018Cys; COL4A5:c.262C>T, p.Pro88Ser; COL4A5:c.1772G>A, p.Gly591Glu
2 diseases linked to COL4A5 Benign familial hematuria; Alport syndrome
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