Details for Gene COL4A4

GENE NAME COL4A4
CHROMOSOME 2
ENSEMBL ID None
ENTREZ ID ENSG00000081052
UNIPROT ACCESSION NUMBER P53420
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; 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-419037; R-HSA-422475; R-HSA-8948216; R-HSA-9006934; R-HSA-9675108
33 combinations linked to COL4A4 OLI1373; OLI1647; OLI388; OLI155; OLI383; OLI1645; OLI974; OLI1374; OLI154; OLI382; OLI386; OLI1648; OLI385; OLI380; OLI381; OLI318; OLI971; OLI975; OLI387; OLI1247; OLI379; OLI973; OLI1375; OLI157; OLI376; OLI319; OLI1678; OLI972; OLI377; OLI033; OLI384; OLI378; OLI034
30 variants linked to COL4A4 COL4A4:c.[1-?_192+?del], ; COL4A4:c.4421C>T, p.Thr1474Met; COL4A4:c.5026C>T, p.Gln1676Ter; COL4A4:c.931-2A>G, ; COL4A4:c.3697G>A, p.Gly1233Arg; COL4A4:c.5045G>A, p.Arg1682Gln; COL4A4:c.1471C>T, p.Leu491Phe; COL4A4:c.1553G>A, p.Gly518Glu; COL4A4:c.3452G>C, p.Gly1151Ala; COL4A4:c.4698del, p.Cys1566TrpfsTer37; COL4A4:c.1293_1310del, p.Lys434_Gly439del; COL4A4:c.1459+1G>A, ; COL4A4:c.2906C>G, p.Ser969Ter; COL4A4:c.3817+1G>T, ; COL4A4:c.2075G>T, p.Gly692Val; COL4A4:c.2164G>A, p.Gly722Ser; COL4A4:c.1623+5G>T, ; COL4A4:c.4760C>G, p.Pro1587Arg; COL4A4:c.1100dup, p.Pro369ThrfsTer61; COL4A4:c.4351G>A, p.Gly1451Arg; COL4A4:c.193G>A, p.Gly65Ser; COL4A4:c.4449_4450dup, p.Met1484ThrfsTer69; COL4A4:c.2510G>C, p.Gly837Ala; COL4A4:c.4151C>T, p.Ala1384Val; COL4A4:c.4910G>A, p.Arg1637Glnl; COL4A4:c.-101-4A>G, ; COL4A4:c.2925G>A, p.Gly975=; COL4A4:c.4715C>T, p.Pro1572Leu; COL4A4:c.3707-3T>C, ; COL4A4:c.4291C>T, p.Arg1431Cys
4 diseases linked to COL4A4 Non-Syndromic genetic keratoconus; Benign familial hematuria; Thin Basement Membrane Nephropathy; Alport syndrome
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