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RBFOX2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2CQ3
Identifiers
Aliases	RBFOX2, FOX2, Fox-2, HNRBP2, HRNBP2, RBM9, RTA, dJ106I20.3, fxh, RNA binding protein, fox-1 homolog 2, RNA binding fox-1 homolog 2
External IDs	OMIM: 612149; MGI: 1933973; HomoloGene: 49375; GeneCards: RBFOX2; OMA:RBFOX2 - orthologs
Gene location (Human) Chr. Chromosome 22 (human) Band 22q12.3 Start 35,738,736 bp End 36,028,824 bp
Gene location (Mouse) Chr. Chromosome 15 (mouse) Band 15|15 D3 Start 77,078,990 bp End 77,307,004 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence cerebellar cortex cerebellar hemisphere right hemisphere of cerebellum smooth muscle tissue stromal cell of endometrium superior frontal gyrus Achilles tendon body of uterus muscle of thigh Top expressed in genital tubercle lateral septal nucleus ventromedial nucleus ganglionic eminence tail of embryo superior frontal gyrus mammillary body dentate gyrus of hippocampal formation granule cell lateral geniculate nucleus cerebellar cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transcription corepressor activity transcription factor binding protein binding RNA binding nucleic acid binding mRNA binding Cellular component nucleus nucleoplasm cytoplasm cytosol Biological process neuromuscular process controlling balance dendrite morphogenesis mRNA processing regulation of alternative mRNA splicing, via spliceosome nervous system development regulation of RNA splicing regulation of cell population proliferation RNA splicing radial glia guided migration of Purkinje cell regulation of definitive erythrocyte differentiation RNA metabolic process negative regulation of transcription, DNA-templated intracellular estrogen receptor signaling pathway fibroblast growth factor receptor signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23543 93686 Ensembl ENSG00000277564 ENSG00000100320 ENSMUSG00000033565 UniProt O43251 Q8BP71 RefSeq (mRNA) NM_001031695 NM_001082576 NM_001082577 NM_001082578 NM_001082579 NM_014309 NM_001349982 NM_001349983 NM_001349989 NM_001349990 NM_001349991 NM_001349992 NM_001349994 NM_001349995 NM_001349996 NM_001349997 NM_001349998 NM_001349999 NM_001394108 NM_001394109 NM_001394110 NM_001394111 NM_001394112 NM_001394113 NM_001394114 NM_001394115 NM_001110827 NM_001110828 NM_001110829 NM_001110830 NM_001286417 NM_001286418 NM_001286419 NM_053104 NM_175387 NM_001358770 NM_001358771 NM_001358772 RefSeq (protein) NP_001026865 NP_001076045 NP_001076046 NP_001076047 NP_001076048 NP_055124 NP_001336911 NP_001336912 NP_001336918 NP_001336919 NP_001336920 NP_001336921 NP_001336923 NP_001336924 NP_001336925 NP_001336926 NP_001336927 NP_001336928 NP_001104297 NP_001104298 NP_001104299 NP_001104300 NP_001273346 NP_001273347 NP_001273348 NP_444334 NP_780596 NP_001345699 NP_001345700 NP_001345701 Location (UCSC) Chr 22: 35.74 – 36.03 Mb Chr 15: 77.08 – 77.31 Mb PubMed search
Wikidata
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RNA binding motif protein 9 (RBM9), also known as Rbfox2, is a protein which in humans is encoded by the RBM9 gene.

Function

Rbfox2 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 splicing in the nervous system and other cell types. Rbfox2 and the related protein Rbfox1 bind to conserved (U)GCAUG RNA motifs in the introns adjacent to many alternatively spliced exons and promotes inclusion or exclusion 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.

Rbfox2, as determined by CLIP-seq, binds near alternatively spliced exons and regulates the inclusion or exclusion of exons during alternative splicing by binding in introns either downstream (inclusion) or upstream (exon skipping) of exons. Its presence is important for stem cell survival and knockdowns of Rbfox2 activate markers for apoptosis.

See also

• Alternative splicing
• RNA-binding protein

References

1. ^ ENSG00000100320 GRCh38: Ensembl release 89: ENSG00000277564, ENSG00000100320 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000033565 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ "Entrez Gene: RBM9 RNA binding motif protein 9".
6. Jin, Y. (2003-02-17). "A vertebrate RNA-binding protein Fox-1 regulates tissue-specific splicing via the pentanucleotide GCAUG". The EMBO Journal. 22 (4): 905–912. doi:10.1093/emboj/cdg089. ISSN 1460-2075. PMC 145449. PMID 12574126.
7. Ponthier, Julie L.; Schluepen, Christina; Chen, Weiguo; Lersch, Robert A.; Gee, Sherry L.; Hou, Victor C.; Lo, Annie J.; Short, Sarah A.; Chasis, Joel A.; Winkelmann, John C.; Conboy, John G. (2006-03-14). "Fox-2 Splicing Factor Binds to a Conserved Intron Motif to Promote Inclusion of Protein 4.1R Alternative Exon 16". Journal of Biological Chemistry. 281 (18): 12468–12474. doi:10.1074/jbc.m511556200. ISSN 0021-9258. PMID 16537540.
8. Yeo GW, Coufal NG, Liang TY, Peng GE, Fu XD, Gage FH (February 2009). "An RNA code for the FOX2 splicing regulator revealed by mapping RNA-protein interactions in stem cells". Nature Structural & Molecular Biology. 16 (2): 130–137. doi:10.1038/nsmb.1545. PMC 2735254. PMID 19136955.

Further reading

• Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489–495. Bibcode:1999Natur.402..489D. doi:10.1038/990031. PMID 10591208.
• Lieberman AP, Friedlich DL, Harmison G, et al. (2001). "Androgens regulate the mammalian homologues of invertebrate sex determination genes tra-2 and fox-1". Biochem. Biophys. Res. Commun. 282 (2): 499–506. doi:10.1006/bbrc.2001.4617. PMID 11401487. S2CID 16858834.
• Norris JD, Fan D, Sherk A, McDonnell DP (2002). "A negative coregulator for the human ER". Mol. Endocrinol. 16 (3): 459–468. doi:10.1210/me.16.3.459. PMID 11875103.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–16903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Collins JE, Goward ME, Cole CG, et al. (2003). "Reevaluating human gene annotation: a second-generation analysis of chromosome 22". Genome Res. 13 (1): 27–36. doi:10.1101/gr.695703. PMC 430954. PMID 12529303.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–45. doi:10.1038/ng1285. PMID 14702039.
• Collins JE, Wright CL, Edwards CA, et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMC 545604. PMID 15461802.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–2127. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–1178. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
• Underwood JG, Boutz PL, Dougherty JD, et al. (2005). "Homologues of the Caenorhabditis elegans Fox-1 protein are neuronal splicing regulators in mammals". Mol. Cell. Biol. 25 (22): 10005–10016. doi:10.1128/MCB.25.22.10005-10016.2005. PMC 1280273. PMID 16260614.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
• Ponthier JL, Schluepen C, Chen W, et al. (2006). "Fox-2 splicing factor binds to a conserved intron motif to promote inclusion of protein 4.1R alternative exon 16". J. Biol. Chem. 281 (18): 12468–12474. doi:10.1074/jbc.M511556200. PMID 16537540.
• Lim J, Hao T, Shaw C, et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–814. doi:10.1016/j.cell.2006.03.032. PMID 16713569.

External links

• Overview of all the structural information available in the PDB for UniProt: O43251 (RNA binding protein fox-1 homolog 2) at the PDBe-KB.

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