Figure 2From: Leveraging existing biological knowledge in the identification of candidate genes for facial dysmorphologyPutative functional associations of ChEBI identified proteins. From insights in the literature associations were found between Nfatc1, its phosphorylation status [19], calcineurin [20, 21] and skeletal/craniofacial dysmorphology [19, 22]; Fkbp10, its role in developing tissues [23] and negative regulation of calcineurin [20]; Nr5a2, its role in PKC-phosphorylation [24], DSCR1 expression [25](both PKC and DSCR1 are implicated in Nfatc-regulated transcription pathways [19, 20]), and retinoic acid signalling [24, 26](implicated in craniofacial development); α-actin (Actn3), its role in mediating calsarcin and calcineurin interactions [27]; and Mef2, its role in calcineurin-dependent gene-regulation [28]. Megf10 has putative a calcium binding site (IPR001881), while Sned1 and Galntl1 are found at the sites of embryonic apoptosis and ossification [29, 30] but little more was discovered about these poorly characterised proteins. Yellow ovals highlight those proteins in the ChEBI sub-network.Back to article page