Human Gene RBFOX2 (ENST00000359369.8) Description and Page Index
  Description: Homo sapiens RNA binding fox-1 homolog 2 (RBFOX2), transcript variant 11, mRNA. (from RefSeq NM_001349991)
RefSeq Summary (NM_001349982): 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. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000359369.8
Gencode Gene: ENSG00000100320.23
Transcript (Including UTRs)
   Position: hg38 chr22:35,743,983-35,938,897 Size: 194,915 Total Exon Count: 14 Strand: -
Coding Region
   Position: hg38 chr22:35,744,195-35,809,971 Size: 65,777 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:35,743,983-35,938,897)mRNA (may differ from genome)Protein (370 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
LynxMGIOMIMPubMedStanford SOURCEUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  ID: B0QYY4_HUMAN
DESCRIPTION: RecName: Full=RNA binding protein fox-1 homolog;
FUNCTION: RNA-binding protein that regulates alternative splicing events (By similarity).
SUBCELLULAR LOCATION: Nucleus (By similarity).

-  MalaCards Disease Associations
  MalaCards Gene Search: RBFOX2
Diseases sorted by gene-association score: sarcocystosis (8), human herpesvirus 8 (7), rhizomelic chondrodysplasia punctata, type 1 (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 75.46 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 1077.79 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -24.9084-0.296 Picture PostScript Text
3' UTR -35.20212-0.166 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR025670 - Fox-1_C_dom
IPR012677 - Nucleotide-bd_a/b_plait
IPR017325 - RNA-bd_Fox-1
IPR000504 - RRM_dom

Pfam Domains:
PF12414 - Calcitonin gene-related peptide regulator C terminal
PF00076 - RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)

ModBase Predicted Comparative 3D Structure on B0QYY4
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding
GO:0003723 RNA binding

Biological Process:
GO:0006397 mRNA processing
GO:0008380 RNA splicing
GO:0043484 regulation of RNA splicing

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  DQ891720 - Synthetic construct clone IMAGE:100004350; FLH179401.01X; RZPDo839G02130D RNA binding motif protein 9 (RBM9) gene, encodes complete protein.
AF229058 - Homo sapiens hexaribonucleotide binding protein 2 (HRNBP2) mRNA, complete cds.
AL009266 - H. sapiens cDNA similar to C. elegans RNA binding protein U14946, Q10572, complete cds.
AK291460 - Homo sapiens cDNA FLJ77497 complete cds, highly similar to Homo sapiens RNA binding motif protein 9 (RBM9), transcript variant 1, mRNA.
BC013115 - Homo sapiens RNA binding motif protein 9, mRNA (cDNA clone MGC:16969 IMAGE:4346741), complete cds.
AM419009 - Homo sapiens partial mRNA for RNA binding motif protein 9 (RBM9 gene), splice variant RBM9*1.
BC025281 - Homo sapiens RNA binding motif protein 9, mRNA (cDNA clone MGC:39192 IMAGE:4555865), complete cds.
AK055213 - Homo sapiens cDNA FLJ30651 fis, clone D3OST2000184, highly similar to RNA binding motif protein 9.
AY072786 - Homo sapiens RNA binding motif protein 9 mRNA, complete cds.
CR456559 - Homo sapiens RBM9 full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.RBM9.V2).
AY960684 - Homo sapiens RNA binding motif protein 9 (RBM9) mRNA, complete cds.
AK314632 - Homo sapiens cDNA, FLJ95475.
AB649123 - Homo sapiens RBFOX2 mRNA, partial cds.
CU013159 - Homo sapiens RBM9, mRNA (cDNA clone IMAGE:100000512), complete cds, with stop codon, in Gateway system.
DQ778625 - Homo sapiens unknown mRNA.
KJ893396 - Synthetic construct Homo sapiens clone ccsbBroadEn_02790 RBFOX2 gene, encodes complete protein.
KJ902351 - Synthetic construct Homo sapiens clone ccsbBroadEn_11745 RBFOX2 gene, encodes complete protein.
DQ894897 - Synthetic construct Homo sapiens clone IMAGE:100009357; FLH263701.01L; RZPDo839G01129D RNA binding motif protein 9 (RBM9) gene, encodes complete protein.
DQ894898 - Synthetic construct Homo sapiens clone IMAGE:100009358; FLH179397.01L; RZPDo839G02129D RNA binding motif protein 9 (RBM9) gene, encodes complete protein.
AB463238 - Synthetic construct DNA, clone: pF1KB8462, Homo sapiens RBM9 gene for RNA binding motif protein 9, without stop codon, in Flexi system.
CU013447 - Homo sapiens RBM9, mRNA (cDNA clone IMAGE:100000416), complete cds, without stop codon, in Gateway system.
CU692956 - Synthetic construct Homo sapiens gateway clone IMAGE:100021964 5' read RBM9 mRNA.
AK091695 - Homo sapiens cDNA FLJ34376 fis, clone FEBRA2017780, weakly similar to RNA binding motif protein 9.
AX747134 - Sequence 659 from Patent EP1308459.
JD542482 - Sequence 523506 from Patent EP1572962.
LF210344 - JP 2014500723-A/17847: Polycomb-Associated Non-Coding RNAs.
MA445921 - JP 2018138019-A/17847: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: B0QYY4, B0QYY4_HUMAN, NM_001349991, RBM9, RP1-41P2.9-006, uc010gwu.1, uc010gwu.2, uc010gwu.3, uc010gwu.4
UCSC ID: uc010gwu.4
RefSeq Accession: NM_001349982
Protein: B0QYY4

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.