Details for Gene COL11A2

GENE NAME COL11A2
CHROMOSOME 6
ENSEMBL ID ENSG00000204248
ENTREZ ID 1302
UNIPROT ACCESSION NUMBER Q4VXY6
GO MOLECULAR FUNCTION extracellular matrix structural constituent
ESSENTIAL IN MOUSE Non-essential
PATHWAYS R-HSA-162582; hsa04974; R-HSA-6806834; hsa04974; R-HSA-8875878; R-HSA-1442490; R-HSA-3000171; R-HSA-8948216; R-HSA-1474290; R-HSA-1474228; R-HSA-2022090; hsa04974; R-HSA-8875878; R-HSA-1474244; R-HSA-1474228; R-HSA-1442490; R-HSA-162582; R-HSA-6806834; R-HSA-9006934; R-HSA-1650814; R-HSA-8948216; R-HSA-8874081; R-HSA-8948216; R-HSA-8874081; R-HSA-8874081; R-HSA-8948216; R-HSA-162582; R-HSA-162582; R-HSA-8875878; R-HSA-1474228; hsa04974; hsa04974; R-HSA-1442490; R-HSA-1650814; R-HSA-3000171; R-HSA-3000171; R-HSA-1474244; R-HSA-6806834; R-HSA-9006934; R-HSA-1650814; R-HSA-2022090; R-HSA-1474244; R-HSA-1474290; R-HSA-1474290; R-HSA-6806834; R-HSA-9006934; hsa04974; R-HSA-2022090; R-HSA-8874081; R-HSA-162582; hsa04974; hsa04974; R-HSA-8874081; hsa04974; R-HSA-162582; R-HSA-3000171; R-HSA-8875878; R-HSA-1474228; R-HSA-1474290; R-HSA-1474244; R-HSA-1442490; R-HSA-1474244; R-HSA-2022090; R-HSA-3000171; R-HSA-1650814; R-HSA-8948216; R-HSA-1650814; R-HSA-6806834; R-HSA-9006934; R-HSA-1474290; R-HSA-2022090; R-HSA-6806834; R-HSA-9006934; R-HSA-9006934; R-HSA-8874081; R-HSA-1650814; R-HSA-1474244; hsa04974; R-HSA-8875878; R-HSA-1474228; R-HSA-2022090; R-HSA-1442490; R-HSA-8948216; hsa04974; R-HSA-1474290; R-HSA-8875878; R-HSA-3000171; R-HSA-1442490; hsa04974; R-HSA-1474228
1 combination linked to COL11A2 OLI296
1 variant linked to COL11A2 COL11A2:c.277C>T, p.Arg93Cys
1 disease linked to COL11A2 Adolescent idiopathic scoliosis
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