Free for academic non-profit institutions. Other users need a Commercial license

Aliases for RBFOX2 Gene

Aliases for RBFOX2 Gene

  • RNA Binding Protein, Fox-1 Homolog 2 2 3 5
  • Repressor Of Tamoxifen Transcriptional Activity 3 4
  • Hexaribonucleotide-Binding Protein 2 3 4
  • RNA-Binding Motif Protein 9 3 4
  • Fox-1 Homolog B 3 4
  • HRNBP2 3 4
  • RBM9 3 4
  • FOX2 3 4
  • RTA 3 4
  • RNA Binding Protein, Fox-1 Homolog (C. Elegans) 2 2
  • Hexaribonucleotide Binding Protein 2 2
  • RNA Binding Protein Fox-1 Homolog 2 3
  • RNA Binding Motif Protein 9 2
  • RNA-Binding Protein 9 4
  • Fox-1 Homologue 3
  • DJ106I20.3 3
  • HNRBP2 3
  • Fox-2 3
  • Fxh 3

External Ids for RBFOX2 Gene

Previous HGNC Symbols for RBFOX2 Gene

  • RBM9

Previous GeneCards Identifiers for RBFOX2 Gene

  • GC22M019102
  • GC22M036136

Summaries for RBFOX2 Gene

Entrez Gene Summary for RBFOX2 Gene

  • 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]

GeneCards Summary for RBFOX2 Gene

RBFOX2 (RNA Binding Protein, Fox-1 Homolog 2) is a Protein Coding gene. Diseases associated with RBFOX2 include Kaposi Sarcoma and Sarcocystosis. Among its related pathways are mRNA Capping and Signaling by GPCR. GO annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is RBFOX1.

UniProtKB/Swiss-Prot for RBFOX2 Gene

  • RNA-binding protein that regulates alternative splicing events by binding to 5-UGCAUGU-3 elements. Prevents binding of U2AF2 to the 3-splice site. Regulates alternative splicing of tissue-specific exons and of differentially spliced exons during erythropoiesis (By similarity). RNA-binding protein that seems to act as a coregulatory factor of ER-alpha.

Gene Wiki entry for RBFOX2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RBFOX2 Gene

Genomics for RBFOX2 Gene

Regulatory Elements for RBFOX2 Gene

Enhancers for RBFOX2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22F035994 1.2 Ensembl ENCODE 12.1 +32.7 32651 3.6 ZFP64 JUN ZNF121 ZBTB48 FOS L3MBTL2 ZNF518A ZNF623 ZNF781 OSR2 RBFOX2 APOL3 MB ENSG00000279652
GH22F036051 1.3 Ensembl ENCODE 11.7 -23.8 -23821 2.4 ELF3 CBX3 PKNOX1 ZNF133 NFRKB KLF17 ARID4B RAD21 ZNF48 ZNF121 RBFOX2 APOL3 ENSG00000279927 GC22P036036
GH22F035985 1 Ensembl ENCODE 11.6 +42.8 42765 1.6 POLR2A ZNF692 FOXP2 ZIC2 RBFOX2 MB ENSG00000279652 GC22P035974
GH22F035987 0.7 Ensembl 11.6 +41.2 41192 0.2 BACH1 EBF1 ZEB2 RAD21 POLR2A SMARCA4 IKZF1 NBN RBFOX2 MB ENSG00000279652 GC22P035974
GH22F036055 0.7 Ensembl ENCODE 11.5 -27.0 -27017 1.0 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF766 RBFOX2 APOL3 ENSG00000279927 GC22P036036
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around RBFOX2 on UCSC Golden Path with GeneCards custom track

Promoters for RBFOX2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001532544 492 2801 ATF1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF121 ZNF766 GLIS2 FOS

Genomic Location for RBFOX2 Gene

Chromosome:
22
Start:
35,738,736 bp from pter
End:
36,028,892 bp from pter
Size:
290,157 bases
Orientation:
Minus strand

Genomic View for RBFOX2 Gene

Genes around RBFOX2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RBFOX2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RBFOX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RBFOX2 Gene

Proteins for RBFOX2 Gene

  • Protein details for RBFOX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43251-RFOX2_HUMAN
    Recommended name:
    RNA binding protein fox-1 homolog 2
    Protein Accession:
    O43251
    Secondary Accessions:
    • A4F5G8
    • A8K5Z5
    • B0QYY8
    • B0QYY9
    • Q0PRL5
    • Q0VH35
    • Q5TF71
    • Q6IC09
    • Q8TD00
    • Q8WYB1
    • Q96DZ6
    • Q96NL7
    • Q9UGW4
    • Q9UH33

    Protein attributes for RBFOX2 Gene

    Size:
    390 amino acids
    Molecular mass:
    41374 Da
    Quaternary structure:
    • Interacts with ER-alpha N-terminal activation domain.

    Three dimensional structures from OCA and Proteopedia for RBFOX2 Gene

    Alternative splice isoforms for RBFOX2 Gene

neXtProt entry for RBFOX2 Gene

Post-translational modifications for RBFOX2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RBFOX2 Gene

Domains & Families for RBFOX2 Gene

Gene Families for RBFOX2 Gene

Suggested Antigen Peptide Sequences for RBFOX2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O43251

UniProtKB/Swiss-Prot:

RFOX2_HUMAN :
  • Contains 1 RRM (RNA recognition motif) domain.
Domain:
  • Contains 1 RRM (RNA recognition motif) domain.
genes like me logo Genes that share domains with RBFOX2: view

Function for RBFOX2 Gene

Molecular function for RBFOX2 Gene

UniProtKB/Swiss-Prot Function:
RNA-binding protein that regulates alternative splicing events by binding to 5-UGCAUGU-3 elements. Prevents binding of U2AF2 to the 3-splice site. Regulates alternative splicing of tissue-specific exons and of differentially spliced exons during erythropoiesis (By similarity). RNA-binding protein that seems to act as a coregulatory factor of ER-alpha.

Gene Ontology (GO) - Molecular Function for RBFOX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003714 transcription corepressor activity IDA 11875103
GO:0003723 RNA binding IEA,IDA 11875103
GO:0003729 mRNA binding IBA --
genes like me logo Genes that share ontologies with RBFOX2: view
genes like me logo Genes that share phenotypes with RBFOX2: view

Animal Model Products

miRNA for RBFOX2 Gene

miRTarBase miRNAs that target RBFOX2

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RBFOX2 Gene

Localization for RBFOX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RBFOX2 Gene

Nucleus. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RBFOX2 Gene COMPARTMENTS Subcellular localization image for RBFOX2 gene
Compartment Confidence
nucleus 5
cytosol 3
peroxisome 1

Gene Ontology (GO) - Cellular Components for RBFOX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 11875103
GO:0005654 nucleoplasm IDA,TAS --
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with RBFOX2: view

Pathways & Interactions for RBFOX2 Gene

genes like me logo Genes that share pathways with RBFOX2: view

Pathways by source for RBFOX2 Gene

Gene Ontology (GO) - Biological Process for RBFOX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000381 regulation of alternative mRNA splicing, via spliceosome ISS --
GO:0006397 mRNA processing IEA --
GO:0007399 nervous system development IBA --
GO:0008380 RNA splicing IEA --
GO:0008543 fibroblast growth factor receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with RBFOX2: view

No data available for SIGNOR curated interactions for RBFOX2 Gene

Drugs & Compounds for RBFOX2 Gene

(1) Drugs for RBFOX2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with RBFOX2: view

Transcripts for RBFOX2 Gene

Unigene Clusters for RBFOX2 Gene

RNA binding protein, fox-1 homolog (C. elegans) 2:
Representative Sequences:

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RBFOX2 Gene

No ASD Table

Relevant External Links for RBFOX2 Gene

GeneLoc Exon Structure for
RBFOX2
ECgene alternative splicing isoforms for
RBFOX2

Expression for RBFOX2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RBFOX2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RBFOX2 Gene

This gene is overexpressed in Fetal Brain (29.1), Heart (12.0), Fetal ovary (10.0), and Fetal heart (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RBFOX2 Gene



NURSA nuclear receptor signaling pathways regulating expression of RBFOX2 Gene:

RBFOX2

SOURCE GeneReport for Unigene cluster for RBFOX2 Gene:

Hs.282998
genes like me logo Genes that share expression patterns with RBFOX2: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for RBFOX2 Gene

Orthologs for RBFOX2 Gene

This gene was present in the common ancestor of animals.

Orthologs for RBFOX2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RBFOX2 35
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RBFOX2 34 35
  • 95.69 (n)
dog
(Canis familiaris)
Mammalia RBFOX2 34 35
  • 95.6 (n)
oppossum
(Monodelphis domestica)
Mammalia RBFOX2 35
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rbfox2 34
  • 93.41 (n)
mouse
(Mus musculus)
Mammalia Rbfox2 34 16 35
  • 93.29 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RBFOX2 35
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves RBFOX2 34 35
  • 85.39 (n)
lizard
(Anolis carolinensis)
Reptilia RBFOX2 35
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10051 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.14636 34
zebrafish
(Danio rerio)
Actinopterygii rbfox2 35
  • 74 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3239 34
fruit fly
(Drosophila melanogaster)
Insecta A2bp1 35
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea fox-1 35
  • 27 (a)
ManyToMany
asd-1 35
  • 24 (a)
ManyToMany
spn-4 35
  • 20 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3750 35
  • 34 (a)
OneToMany
Species where no ortholog for RBFOX2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RBFOX2 Gene

ENSEMBL:
Gene Tree for RBFOX2 (if available)
TreeFam:
Gene Tree for RBFOX2 (if available)

Paralogs for RBFOX2 Gene

Paralogs for RBFOX2 Gene

genes like me logo Genes that share paralogs with RBFOX2: view

Variants for RBFOX2 Gene

Sequence variations from dbSNP and Humsavar for RBFOX2 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs10428017 -- 35,806,493(+) ccatt(A/G)gtaat intron-variant
rs1043123 -- 35,739,362(-) CTTGT(A/C)CCTGA utr-variant-3-prime
rs10483192 -- 35,876,590(+) AAAGG(A/G)TATTG intron-variant
rs10525108 -- 36,000,005(+) TATAT(A/T)TTTTT intron-variant
rs10623033 -- 35,801,428(+) CACAT(-/AC)ACACA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RBFOX2 Gene

Variant ID Type Subtype PubMed ID
esv2423870 CNV deletion 19546169
esv2654054 CNV deletion 19546169
esv2663753 CNV deletion 23128226
esv2724188 CNV deletion 23290073
esv3647674 CNV loss 21293372
esv3893478 CNV loss 25118596
nsv1064818 CNV gain 25217958
nsv1073161 CNV deletion 25765185
nsv3612 CNV insertion 18451855
nsv3613 CNV insertion 18451855
nsv3614 CNV insertion 18451855
nsv476453 CNV novel sequence insertion 20440878
nsv477805 CNV novel sequence insertion 20440878
nsv478317 CNV novel sequence insertion 20440878
nsv511076 OTHER complex 20534489
nsv519467 CNV gain 19592680
nsv527454 CNV gain 19592680
nsv964626 CNV duplication 23825009
nsv966106 CNV duplication 23825009

Variation tolerance for RBFOX2 Gene

Residual Variation Intolerance Score: 28.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.98; 20.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RBFOX2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RBFOX2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RBFOX2 Gene

Disorders for RBFOX2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RBFOX2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
kaposi sarcoma
  • kaposi sarcoma, susceptibility to
sarcocystosis
  • sarcosporidiosis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for RBFOX2

Genetic Association Database (GAD)
RBFOX2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RBFOX2
genes like me logo Genes that share disorders with RBFOX2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RBFOX2 Gene

Publications for RBFOX2 Gene

  1. Defining the regulatory network of the tissue-specific splicing factors Fox-1 and Fox-2. (PMID: 18794351) Zhang C. … Zhang M.Q. (Genes Dev. 2008) 3 22 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins J.E. … Dunham I. (Genome Biol. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Reevaluating human gene annotation: a second-generation analysis of chromosome 22. (PMID: 12529303) Collins J.E. … Dunham I. (Genome Res. 2003) 3 4 64

Products for RBFOX2 Gene

Sources for RBFOX2 Gene

Content
Loading form....