From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
"FOX-2" redirects here. For other uses, see
Fox 2 .
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 2External IDs
OMIM :
612149
MGI :
1933973
HomoloGene :
49375
GeneCards :
RBFOX2
RNA expression pattern
Bgee
Human
Mouse (ortholog)
Top expressed in ganglionic eminence cerebellar cortex cerebellar hemisphere smooth muscle tissue stromal cell of endometrium superior frontal gyrus Achilles tendon gastric mucosa myometrium ovary
Top expressed in ventromedial nucleus ganglionic eminence superior frontal gyrus mammillary body lateral geniculate nucleus cerebellar cortex lateral hypothalamus secondary oocyte paraventricular nucleus of hypothalamus medial dorsal nucleus
More reference expression data
BioGPS
Wikidata
RNA binding motif protein 9 (RBM9) , also known as Rbfox2 , is a
protein which in humans is encoded by the RBM9
gene .
[5]
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.
[6]
[7] 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.
[5]
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 .
[8]
See also
References
^
a
b
c
ENSG00000100320 GRCh38: Ensembl release 89: ENSG00000277564, ENSG00000100320 –
Ensembl , May 2017
^
a
b
c
GRCm38: Ensembl release 89: ENSMUSG00000033565 –
Ensembl , May 2017
^
"Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^
"Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^
a
b
"Entrez Gene: RBM9 RNA binding motif protein 9" .
^ 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 .
^ 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 .
^ 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 .