Basic gene annotations are collected from Uniprot and displayed with links to original sources. A quick link to explore the genomic context with Uniprot Browser is available.
RFX3 - regulatory factor X3
Function
Transcription factor required for ciliogenesis and islet cell differentiation during endocrine pancreas development. Essential for the differentiation of nodal monocilia and left-right asymmetry specification during embryogenesis. Required for the biogenesis of motile cilia by governing growth and beating efficiency of motile cells. Also required for ciliated ependymal cell differentiation. Regulates the expression of genes involved in ciliary assembly (DYNC2LI1, FOXJ1 and BBS4) and genes involved in ciliary motility (DNAH11, DNAH9 and DNAH5) (By similarity). Together with RFX6, participates in the differentiation of 4 of the 5 islet cell types during endocrine pancreas development, with the exception of pancreatic PP (polypeptide-producing) cells. Regulates transcription by forming a heterodimer with another RFX protein and binding to the X-box in the promoter of target genes (PubMed:20148032). Represses transcription of MAP1A in non-neuronal cells but not in neuronal cells (PubMed:12411430).
Uniprot Browser| Entrez ID | EnsEMBL ID | Preferred Name | Uniprot ID |
|---|---|---|---|
| 5991 | ENSG00000080298 | RFX3 | P48380 |
Causal Flows are statistically significant links between putative causal events (somatic mutations, copy number variations, chromosomal translocations, etc.) and the activity levels of regulators and regulons. In the causal flow, a mutation may causally activate or deactivate a downstream regulator which then might up- down-regulates a regulonthat contains genes with similar expression profiles and binding sites.
Causal Mechanistic Flows with ENSG00000080298 as Regulator
| ID | Mutation | Role | Regulator | Role | Regulon | # downstream regulons | # diffexp regulons | Drugs |
|---|---|---|---|---|---|---|---|---|
| CMF-05350 | AMAC1 | up-regulates | RFX3 | represses | R-3152 | 3 | 1 | Drugs (7) Regulator Drugs (0)Regulon Drugs (7)ATN-161, CINTREDEKIN BESUDOTOX, NATALIZUMAB, FIRATEGRAST, EMRICASAN, VOLOCIXIMAB, ABITUZUMAB |
| CMF-13720 | NRXN1 | down-regulates | RFX3 | represses | R-3152 | 3 | 1 | Drugs (7) Regulator Drugs (0)Regulon Drugs (7)ATN-161, CINTREDEKIN BESUDOTOX, NATALIZUMAB, FIRATEGRAST, EMRICASAN, VOLOCIXIMAB, ABITUZUMAB |