Details for Gene CYP21A2

GENE NAME CYP21A2
CHROMOSOME 6
ENSEMBL ID ENSG00000231852
ENTREZ ID 1589
UNIPROT ACCESSION NUMBER Q16874
GO MOLECULAR FUNCTION iron ion binding; steroid binding; steroid 21-monooxygenase activity; steroid hydroxylase activity; 17-hydroxyprogesterone 21-hydroxylase activity; heme binding; progesterone 21-hydroxylase activity
ESSENTIAL IN MOUSE None
PATHWAYS hsa00140; hsa04934; hsa04927; R-HSA-5579021; R-HSA-8957322; hsa04925; hsa00140; R-HSA-193993; R-HSA-1430728; R-HSA-211945; hsa01100; R-HSA-211859; hsa04925; R-HSA-5668914; hsa04934; hsa00140; R-HSA-211976; R-HSA-211897; hsa01100; hsa04934; hsa01100; hsa04927; R-HSA-211897; R-HSA-1643685; R-HSA-5579029; R-HSA-211976; hsa00140; hsa04925; hsa04934; R-HSA-556833; hsa04927; R-HSA-5668914; hsa04934; R-HSA-1643685; R-HSA-5579029; hsa04927; R-HSA-194002; hsa04934; hsa01100; hsa00140; hsa04927; R-HSA-5668914; R-HSA-556833; R-HSA-556833; hsa04925; hsa01100; R-HSA-194002; R-HSA-211897; hsa04927; R-HSA-211976; hsa01100; hsa04934; R-HSA-1430728; R-HSA-196071; R-HSA-8957322; hsa04925; R-HSA-5579021; R-HSA-211859; hsa04925; hsa00140; hsa01100; hsa04934; hsa04934; hsa00140; R-HSA-211859; hsa04925; R-HSA-5579021; R-HSA-211945; hsa04927; hsa00140; R-HSA-193993; R-HSA-8957322; R-HSA-1430728; R-HSA-196071; hsa01100; R-HSA-211945; hsa00140; R-HSA-193993; hsa04925; R-HSA-196071; hsa04927; hsa04927; hsa01100; hsa04925; R-HSA-1643685; R-HSA-5579029; R-HSA-194002
2 combinations linked to CYP21A2 OLI1069; OLI1040
2 variants linked to CYP21A2 CYP21A2:c.1360C>T, p.Pro454Ser; CYP21A2:c.844G>T, p.Val282Leu
1 disease linked to CYP21A2 Primary ovarian failure
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