Details for Gene COL4A3

GENE NAME COL4A3
CHROMOSOME 2
ENSEMBL ID None
ENTREZ ID ENSG00000169031
UNIPROT ACCESSION NUMBER Q01955
GO MOLECULAR FUNCTION ['integrin binding', 'metalloendopeptidase inhibitor activity', 'extracellular matrix structural constituent conferring tensile strength', 'protein binding', 'structural molecule activity', '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
27 combinations linked to COL4A3 OLI516; OLI133; OLI155; OLI1646; OLI974; OLI154; OLI382; OLI1648; OLI380; OLI381; OLI1644; OLI318; OLI971; OLI1247; OLI379; OLI156; OLI973; OLI1375; OLI157; OLI376; OLI319; OLI972; OLI377; OLI1673; OLI975; OLI378; OLI034
24 variants linked to COL4A3 Copy Number Variant duplication on chromosome 2 of the exon1 in the gene COL4A3; COL4A3:c.3356G>A, p.Gly1119Asp; COL4A3:c.4484A>G, p.Gln1495Arg; COL4A3:c.3829G>A, p.Gly1277Ser; COL4A3:c.4523A>G, p.Asn1508Ser; COL4A3:c.3418+1G>T, ; COL4A3:c.4664C>T, p.Ala1555Val; COL4A3:c.2746+1G>T, ; COL4A3:c.898G>A, p.Gly300Arg; COL4A3:c.1558G>C, p.Gly520Arg; COL4A3:c.1504+1G>A, ; COL4A3:c.2065G>A, p.Gly689Arg; COL4A3:c.4994G>A, p.Cys1665Tyr; COL4A3:c.3691G>A, p.Gly1231Ser; COL4A3:c.345del, p.Pro116LeufsTer37; COL4A3:c.4826G>A, p.Arg1609Gln; COL4A3:c.2342_2350del, p.Thr781_Gly783del; COL4A3:c.3302G>A, p.Gly1101=; COL4A3:c.469G>C, p.Gly157Arg; COL4A3:c.1021C>T, p.Arg341Cys; COL4A3:c.3419-1G>C, ; COL4A3:c.1541G>A, p.Gly514Glu; COL4A3:c.2692G>A, p.Gly898Arg; COL4A3:c.4523A>G, p.Asn1508Ser
4 diseases linked to COL4A3 Non-Syndromic genetic keratoconus; Benign familial hematuria; Thin Basement Membrane Nephropathy; Alport syndrome
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