Details for Gene BMP2

GENE NAME BMP2
CHROMOSOME 20
ENSEMBL ID None
ENTREZ ID ENSG00000125845
UNIPROT ACCESSION NUMBER P12643
GO MOLECULAR FUNCTION ['growth factor activity', 'BMP receptor binding', 'SMAD binding', 'protein binding', 'co-receptor binding', 'protein serine/threonine kinase activator activity', 'phosphatase activator activity', 'signaling receptor binding', 'cytokine activity']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04060; hsa04350; hsa04390; hsa05200; hsa05217; hsa04060; hsa04350; hsa04390; hsa05200; hsa05217; R-HSA-1474244; R-HSA-1566948; R-HSA-162582; R-HSA-201451; R-HSA-212436; R-HSA-2129379; R-HSA-73857; R-HSA-74160; R-HSA-8878166; R-HSA-8939902; R-HSA-9006936
12 combinations linked to BMP2 OLI1006; OLI1361; OLI1359; OLI1367; OLI1363; OLI1364; OLI1362; OLI1358; OLI1368; OLI1360; OLI1365; OLI1366
2 variants linked to BMP2 BMP2:c.393A>T, p.Arg131Ser; BMP2:
5 diseases linked to BMP2 Non-syndromic metopic and sagittal craniosynostosis; 46,XY disorder of sex development; Non-syndromic metopic craniosynostosis; Androgen insensitivity syndrome; Non-syndromic sagittal craniosynostosis

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