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... See more...

Aliases for RBFOX2 Gene

Aliases for RBFOX2 Gene

  • RNA Binding Fox-1 Homolog 2 2 3 5
  • Repressor Of Tamoxifen Transcriptional Activity 3 4
  • Hexaribonucleotide-Binding Protein 2 3 4
  • RNA Binding Protein, Fox-1 Homolog 2 2 3
  • RNA Binding Protein Fox-1 Homolog 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 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 Fox-1 Homolog 2) is a Protein Coding gene. Diseases associated with RBFOX2 include Hypoplastic Left Heart Syndrome and Human Herpesvirus 8. Among its related pathways are Signaling by GPCR and Formation of HIV-1 elongation complex containing HIV-1 Tat. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is RBFOX1.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for RBFOX2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RBFOX2 Gene

Genomics for RBFOX2 Gene

GeneHancer (GH) Regulatory Elements for RBFOX2 Gene

Promoters and enhancers for RBFOX2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J035834 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 509.8 +191.4 191366 7.9 HNRNPK EP300 CTCF ZSCAN5C TCF12 NRF1 JUND TEAD4 ZNF639 ZIC2 RBFOX2 RPL41P3 piR-35054-006 HMGXB4 EIF3D MCM5 IFT27 APOL6 MB RPS15AP38
GH22J036026 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.7 691 3.6 EP300 NRF1 POLR2G ZFX ZIC2 POLR2A ZBTB10 ZBTB26 TRIM28 ZBTB25 RBFOX2 ENSG00000279652
GH22J036348 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 23.7 -340.1 -340096 41.2 EP300 FOXK2 ZBTB40 ZNF217 CTCF ZSCAN5C SIN3A NRF1 TCF12 ZNF300 MYH9 RBFOX2 FOXRED2 TXN2 ENSG00000252225 IFT27 ENSG00000223695 APOL3 EIF3D ENSG00000228719
GH22J035371 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE CraniofacialAtlas 22.3 +656.5 656450 2.1 EP300 FOXK2 ZSCAN5C SIN3A MYC TCF12 POLR2G USF1 SP1 NCOR1 AB905426 ENSG00000282602 HMGXB4 RBFOX2 TOM1 HMOX1 APOL6 ENSG00000282041
GH22J035298 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 15.8 +727.9 727885 4.8 EP300 FOXK2 ZBTB40 ZSCAN5C SIN3A NRF1 POLR2G USF1 SP1 NCOR1 TOM1 ENSG00000273176 HMGXB4 RBFOX2 MCM5 MIR3909
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RBFOX2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RBFOX2

Genomic Locations for RBFOX2 Gene

Genomic Locations for RBFOX2 Gene
chr22:35,738,736-36,028,892
(GRCh38/hg38)
Size:
290,157 bases
Orientation:
Minus strand
chr22:36,134,783-36,424,585
(GRCh37/hg19)
Size:
289,803 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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RBFOX2 Gene

Blocks:
  • RNA-binding region RNP-1 (RNA recognition motif)
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RBFOX2 Gene

GenScript: Design optimal peptide antigens:
  • Repressor of tamoxifen transcriptional activity (RFOX2_HUMAN)
genes like me logo Genes that share domains with RBFOX2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RBFOX2 Gene

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.

Phenotypes From GWAS Catalog for RBFOX2 Gene

Gene Ontology (GO) - Molecular Function for RBFOX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003714 transcription corepressor activity IDA 11875103
GO:0003723 RNA binding IDA,IEA 11875103
GO:0003729 mRNA binding IBA,IEA 21873635
GO:0005515 protein binding IPI 11875103
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

CRISPR Products

miRNA for RBFOX2 Gene

miRTarBase miRNAs that target RBFOX2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RBFOX2

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RBFOX2 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 2
peroxisome 2
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RBFOX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IBA 11875103
GO:0005654 nucleoplasm IDA,TAS --
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol 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 21873635
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

mRNA/cDNA for RBFOX2 Gene

18 REFSEQ mRNAs :
27 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RBFOX2

Clone 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

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, MaxQB, and MOPED for RBFOX2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RBFOX2

SOURCE GeneReport for Unigene cluster for RBFOX2 Gene:

Hs.282998

Evidence on tissue expression from TISSUES for RBFOX2 Gene

  • Nervous system(5)
  • Adrenal gland(4.4)
  • Liver(4.4)
  • Lung(2.9)
  • Blood(2.6)
  • Muscle(2.5)
  • Heart(2.4)
  • Kidney(2.3)
  • Spleen(2.2)
  • Thyroid gland(2.2)
  • Eye(2.1)
  • Intestine(2.1)
  • Lymph node(2.1)
  • Bone marrow(2)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with RBFOX2: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 31
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RBFOX2 31 30
  • 95.69 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RBFOX2 31 30
  • 95.6 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RBFOX2 31
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rbfox2 30
  • 93.41 (n)
mouse
(Mus musculus)
Mammalia Rbfox2 17 31 30
  • 93.29 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RBFOX2 31
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves RBFOX2 31 30
  • 85.39 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RBFOX2 31
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10051 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.14636 30
zebrafish
(Danio rerio)
Actinopterygii rbfox2 31
  • 74 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3239 30
fruit fly
(Drosophila melanogaster)
Insecta A2bp1 31
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea fox-1 31
  • 27 (a)
ManyToMany
asd-1 31
  • 24 (a)
ManyToMany
spn-4 31
  • 20 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3750 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for RBFOX2: view image

Paralogs for RBFOX2 Gene

Paralogs for RBFOX2 Gene

(9) SIMAP similar genes for RBFOX2 Gene using alignment to 7 proteins:

  • RFOX2_HUMAN
  • B0QYY4_HUMAN
  • B0QYY6_HUMAN
  • B0QYY7_HUMAN
  • F8WSN4_HUMAN
  • S4R3K7_HUMAN
  • S4R469_HUMAN
genes like me logo Genes that share paralogs with RBFOX2: view

Variants for RBFOX2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RBFOX2 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
727647 Likely Benign: not provided 35,768,287(-) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
740212 Benign: not provided 35,761,304(-) T/G INTRON_VARIANT
746897 Benign: not provided 35,809,897(-) T/C SYNONYMOUS_VARIANT
746898 Benign: not provided 35,938,880(-) T/C SYNONYMOUS_VARIANT
750495 Likely Benign: not provided 35,756,129(-) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for RBFOX2 Gene

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)

Additional Variant Information for RBFOX2 Gene

Human Gene Mutation Database (HGMD)
RBFOX2
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

(4) MalaCards diseases for RBFOX2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hypoplastic left heart syndrome
  • hlhs
human herpesvirus 8
  • kaposi sarcoma
atrial septal defect 1
  • asd1
benign epilepsy with centrotemporal spikes
  • centrotemporal epilepsy
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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 MQ (Genes & development 2008) 3 23 54
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4 54
  5. Reevaluating human gene annotation: a second-generation analysis of chromosome 22. (PMID: 12529303) Collins JE … Dunham I (Genome research 2003) 3 4 54

Products for RBFOX2 Gene