Details for Gene COL6A3

GENE NAME COL6A3
CHROMOSOME 2
ENSEMBL ID None
ENTREZ ID ENSG00000163359
UNIPROT ACCESSION NUMBER P12111
GO MOLECULAR FUNCTION ['extracellular matrix structural constituent conferring tensile strength', 'serine-type endopeptidase inhibitor activity']
ESSENTIAL IN MOUSE None
PATHWAYS hsa04151; hsa04510; hsa04512; hsa04974; hsa05165; hsa04151; hsa04510; hsa04512; hsa04974; hsa05165; 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-3000178; R-HSA-375165; R-HSA-419037; R-HSA-422475; R-HSA-8948216; R-HSA-9006934; R-HSA-9675108
8 combinations linked to COL6A3 OLI1678; OLI1740; OLI794; OLI788; OLI795; OLI787; OLI570; OLI134
8 variants linked to COL6A3 COL6A3:c.9349G>A, p.Asp3117Asn; COL6A3:c.4156G>A, p.Glu1386Lys; COL6A3:c.7258C>T, p.Arg2420Trp; COL6A3:c.619C>T, p.Gln207Ter; COL6A3:c.367G>A, p.Val123Met; COL6A3:c.8865dupC, p.Ala2956ArgfsTer13; COL6A3:c.5681C>T, p.Pro1894Leu; COL6A3:c.3199G>A, p.Val1067Met
5 diseases linked to COL6A3 Bethlem myopathy; Limb-girdle muscular dystrophy; Sudden infant death syndrome; Non-Syndromic genetic keratoconus; Arthrogryposis syndrome
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