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Aliases for RBFOX2 Gene

Aliases for RBFOX2 Gene

  • RNA Binding Protein, Fox-1 Homolog 2 2 3
  • RNA Binding Protein, Fox-1 Homolog (C. Elegans) 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
  • Hexaribonucleotide Binding Protein 2 2
  • 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 Formation of the HIV-1 Early Elongation Complex and Interleukin-3, 5 and GM-CSF signaling. GO annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is RBFOX3.

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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around RBFOX2 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for RBFOX2 Gene at MOPED

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:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA,IDA 11875103
GO:0003729 mRNA binding IEA,IBA --
GO:0008134 transcription factor binding IDA 11875103
genes like me logo Genes that share ontologies with RBFOX2: view
genes like me logo Genes that share phenotypes with RBFOX2: view

miRNA for RBFOX2 Gene

miRTarBase miRNAs that target RBFOX2

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: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:0006397 mRNA processing IEA --
GO:0007399 nervous system development IBA --
GO:0008543 fibroblast growth factor receptor signaling pathway TAS --
GO:0016070 RNA metabolic process TAS 11875103
GO:0042127 regulation of cell proliferation TAS 11875103
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:

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 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, MOPED, and MaxQB for RBFOX2 Gene



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 , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia RBFOX2 35
  • 95.69 (n)
  • 98.89 (a)
RBFOX2 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RBFOX2 35
  • 95.6 (n)
  • 98.96 (a)
RBFOX2 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rbfox2 35
  • 93.29 (n)
  • 97.69 (a)
Rbfox2 16
Rbfox2 36
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rbfox2 35
  • 93.41 (n)
  • 97.11 (a)
oppossum
(Monodelphis domestica)
Mammalia RBFOX2 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RBFOX2 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RBFOX2 36
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves RBFOX2 35
  • 85.39 (n)
  • 93.28 (a)
RBFOX2 36
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RBFOX2 36
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10051 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.14636 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3239 35
zebrafish
(Danio rerio)
Actinopterygii rbfox2 36
  • 74 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta A2bp1 36
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea asd-1 36
  • 24 (a)
ManyToMany
fox-1 36
  • 27 (a)
ManyToMany
spn-4 36
  • 20 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3750 36
  • 34 (a)
OneToMany
Species with no ortholog for RBFOX2:
  • 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
rs14870 -- 35,738,780(+) CCATG(C/T)GCAAA utr-variant-3-prime
rs132596 -- 36,017,243(+) ACATG(C/T)TACAG intron-variant
rs132597 -- 36,022,232(+) ACATT(C/T)TTGTT intron-variant
rs2092786 -- 35,828,284(+) ATTCC(A/T)GAGTC intron-variant
rs2103828 -- 35,866,216(+) ATTCA(A/T)ACTGC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv511076 CNV Complex 20534489
nsv3612 CNV Insertion 18451855
nsv527454 CNV Gain 19592680
esv2423870 CNV Deletion 19546169
esv2724188 CNV Deletion 23290073
nsv915002 CNV Loss 21882294
nsv915003 CNV Loss 21882294
nsv483105 CNV Loss 15286789
esv2663753 CNV Deletion 23128226
nsv3613 CNV Insertion 18451855
nsv519467 CNV Gain 19592680
esv2654054 CNV Deletion 19546169
nsv3614 CNV Insertion 18451855

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links 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
  • human herpesvirus 8
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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 67
  2. 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 23
  3. RBFOX and PTBP1 proteins regulate the alternative splicing of micro-exons in human brain transcripts. (PMID: 25524026) Li Y.I. … Ponting C.P. (Genome Res. 2015) 3
  4. Control of a neuronal morphology program by an RNA-binding zinc finger protein, Unkempt. (PMID: 25737280) Murn J. … Shi Y. (Genes Dev. 2015) 3
  5. Global Promotion of Alternative Internal Exon Usage by mRNA 3' End Formation Factors. (PMID: 25921069) Misra A. … Green M.R. (Mol. Cell 2015) 3

Products for RBFOX2 Gene

Sources for RBFOX2 Gene

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