Details for Gene COL4A2

GENE NAME COL4A2
CHROMOSOME 13
ENSEMBL ID None
ENTREZ ID ENSG00000134871
UNIPROT ACCESSION NUMBER P08572
GO MOLECULAR FUNCTION ['protein binding', 'extracellular matrix structural constituent conferring tensile strength', 'extracellular matrix structural constituent']
ESSENTIAL IN MOUSE 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-2173782; R-HSA-2214320; R-HSA-2243919; R-HSA-3000157; R-HSA-3000171; R-HSA-3000178; R-HSA-3000480; R-HSA-375165; R-HSA-419037; R-HSA-422475; R-HSA-5653656; R-HSA-8948216; R-HSA-9006934; R-HSA-9675108
1 combination linked to COL4A2 OLI1679
1 variant linked to COL4A2 COL4A2:c.3635-3C>T,
1 disease linked to COL4A2 Non-Syndromic genetic keratoconus
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