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Figure 2 | BMC Bioinformatics

Figure 2

From: Leveraging existing biological knowledge in the identification of candidate genes for facial dysmorphology

Figure 2

Putative 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.

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