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Rbfox2 nonsense mutation is associated with hypoplastic left heart syndrome.
Data show that while RBFOX1 and RBFOX2 do not mediate neuron-specific processing of UBE3A-ATS, these proteins play important roles in developing neurons and are not completely functionally redundant.
Results showed that the expression patterns of these genes were indicative of the onset of EMT (zeige ITK Proteine) in in-vitro models, but not in tissue samples. However, the ratio between ESRP1 (zeige ESRP1 Proteine) or ESRP2 (zeige ESRP2 Proteine) and RBFOX2 significantly decreased during EMT (zeige ITK Proteine) and positively correlated with the EMT (zeige ITK Proteine)-specific phenotype in cell models. Low ESRP1 (zeige ESRP1 Proteine)/RBFOX2 ratio value was associated with a higher risk of metastasis in early breast cancer patients.
Rbfox2 modulates the functions of vascular CaV1.2 (zeige CACNA1C Proteine) calcium channel by dynamically regulating the expressions of alternative exons 9* and 33, which in turn affects the vascular myogenic tone.
RBFOX2 dysregulation by dominant-negative RBFOX2 is an early pathogenic event in diabetic hearts.
RBFox2 interactis with chromatin in a nascent RNA-dependent manner. RBFox2 inactivation eradicates PRC2 targeting on the majority of bivalent gene promoters and leads to transcriptional de-repression.
Some of the widespread cellular functions of Rbfox2 protein are attributable to regulation of miRNA biogenesis, and might include the mis (zeige AMH Proteine)-regulation of miR (zeige MLXIP Proteine)-20b and miR (zeige MLXIP Proteine)-107 in cancer and neurodegeneration.
RBFOX proteins can facilitate the splicing of micro-exons. We also found that PTBP1 (zeige PTBP1 Proteine) likely regulates the inclusion of micro-exons, possibly by repressing the inclusion of micro-exons that are enhanced by RBFOX proteins and other splicing factors.[RBFOX]
CPSF2 (zeige CPSF2 Proteine) and SYMPK (zeige SYMPK Proteine), are RBFOX2 cofactors for both inclusion and exclusion of internal exons.
RBFOX2 SNPs showed evidence for effects across multiple reading and language traits.
These data reveal an alternative splicing program activated by Rbfox2 in the endothelium on recruitment of platelets and macrophages and demonstrate its relevance in transcriptional responses during flow-driven vascular inflammation.
This study demonstrated that the Rbfox2 represses e18a inclusion during pre-mRNA splicing of CaV2.2 (zeige CACNA1B Proteine), limiting the size of CaV2.2 (zeige CACNA1B Proteine) currents early in development in certain neuronal populations.
A classic nuclear localization signal at the N terminus that regulates the subcellular localization of Rbfox2 isoforms during differentiation of the mouse epithelial and embryonic stem cells lines has been identified.
Gain- and loss-of-function experiments demonstrated that Rbfox1 (zeige A2BP1 Proteine) and Rbfox2 cooperate in promoting Mef2D (zeige MEF2D Proteine) splicing and subsequent myogenesis.
Results show that the conserved Rbfox2 RNA binding protein regulates 30% of the splicing transitions observed during myogenesis and is required for the specific step of myoblast fusion.
an unexpectedly broad and multilayer regulatory network controlled by Rbfox2 and offer an explanation for how autoregulatory splicing networks are tuned
During an EMT (zeige ITK Proteine), Rbfox2-regulated splicing shifts from epithelial-to mesenchymal-specific events.
Rbfox2 protein controls a post-transcriptional program required for proper brain development.
Data show that Rbfox1l and Rbfox2 have unique and redundant roles in splicing regulation.
This gene is one of several human genes similar to the C. elegans gene Fox-1. This gene encodes an RNA binding protein that is thought to be a key regulator of alternative exon splicing in the nervous system and other cell types. The protein binds to a conserved UGCAUG element found downstream of many alternatively spliced exons and promotes inclusion of the alternative exon in mature transcripts. The protein also interacts with the estrogen receptor 1 transcription factor and regulates estrogen receptor 1 transcriptional activity. Multiple transcript variants encoding different isoforms have been found for this gene.
RNA binding motif protein 9
, RNA binding motif protein 9 a
, RNA binding protein fox-1 homolog 2
, RNA-binding motif protein 9
, fox-1 homolog B
, fox-1 homologue
, hexaribonucleotide-binding protein 2
, repressor of tamoxifen transcriptional activity
, RNA-binding protein 9
, Fyn-binding molecule 2
, fox-1 homolog Fxh
, hexaribonucleotide binding protein 2
, Fox-1 homolog B
, RNA binding motif protein 9 b