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RBFOX2 Gene

protein-coding   GIFtS: 52
GCID: GC22M036136

RNA Binding Protein, Fox-1 Homolog (C. Elegans) 2

(Previous name: RNA binding motif protein 9)
(Previous symbol: RBM9)
  See RBFOX2-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
RNA Binding Protein, Fox-1 Homolog (C. Elegans) 21 2     Hexaribonucleotide Binding Protein 21
RBM91 2 3 5     RNA Binding Motif Protein 91
FOX22 3 5     Fox-22
RTA2 3 5     HNRBP22
Fox-1 Homolog B2 3     dJ106I20.32
Hexaribonucleotide-Binding Protein 22 3     Fox-1 Homologue2
Repressor Of Tamoxifen Transcriptional Activity2 3     fxh2
HRNBP22 3     RNA Binding Protein Fox-1 Homolog 22
RNA-Binding Motif Protein 92 3     RNA-Binding Protein 93

External Ids:    HGNC: 99061   Entrez Gene: 235432   Ensembl: ENSG000001003207   OMIM: 6121495   UniProtKB: O432513   

Export aliases for RBFOX2 gene to outside databases

Previous GC identifer: GC22M019102


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (C. elegans) 2) is a protein-coding gene. Diseases associated with RBFOX2 include kaposi's sarcoma. GO annotations related to this gene include RNA binding and transcription factor binding. An important paralog of this gene is RBFOX3.

UniProtKB/Swiss-Prot: RFOX2_HUMAN, O43251
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 Wiki entry for RBFOX2 (RBM9) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000022.11  NT_011520.13  NC_018933.2  NT_187630.1  
Regulatory elements:
   Search for regulatory transcription factor binding sites for RBFOX2
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): RBFOX2 promoter sequence
   Search Chromatin IP Primers for RBFOX2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RBFOX2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.1   Ensembl cytogenetic band:  22q12.3   HGNC cytogenetic band: 22q12-q13

RBFOX2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RBFOX2 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M036136:  view genomic region     (about GC identifiers)

Start:
36,134,783 bp from pter      End:
36,424,585 bp from pter
Size:
289,803 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RFOX2_HUMAN, O43251 (See protein sequence)
Recommended Name: RNA binding protein fox-1 homolog 2  
Size: 390 amino acids; 41374 Da
Subunit: Interacts with ER-alpha N-terminal activation domain
1 PDB 3D structure from and Proteopedia for RBFOX2:
2CQ3 (3D)    
Secondary accessions: A4F5G8 A8K5Z5 B0QYY8 B0QYY9 Q0PRL5 Q0VH35 Q5TF71 Q6IC09 Q8TD00 Q8WYB1
Q96DZ6 Q96NL7 Q9UGW4 Q9UH33
Alternative splicing: 10 isoforms:  O43251-1   O43251-2   O43251-3   O43251-4   O43251-5   O43251-6   O43251-7   O43251-8   
O43251-9   O43251-10   (Ref.4 (BAB70875) sequence is in conflict in position: 8:H->Q)

Explore the universe of human proteins at neXtProt for RBFOX2: NX_O43251

Explore proteomics data for RBFOX2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys160
  • Modification sites at PhosphoSitePlus

  • See RBFOX2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001026865.1  NP_001076045.1  NP_001076046.1  NP_001076047.1  NP_001076048.1  NP_055124.1  

    ENSEMBL proteins: 
     ENSP00000384944   ENSP00000407855   ENSP00000391670   ENSP00000262829   ENSP00000380470  
     ENSP00000352328   ENSP00000405651   ENSP00000474464   ENSP00000413035   ENSP00000475142  
     ENSP00000386177   ENSP00000380472  

    RBFOX2 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    RBM: RNA binding motif (RRM) containing

    4 InterPro protein domains:
     IPR012677 Nucleotide-bd_a/b_plait
     IPR025670 Fox-1_C_dom
     IPR017325 RNA-bd_Fox-1
     IPR000504 RRM_dom

    Graphical View of Domain Structure for InterPro Entry O43251

    ProtoNet protein and cluster: O43251

    1 Blocks protein domain: IPB000504 RNA-binding region RNP-1 (RNA recognition motif)

    UniProtKB/Swiss-Prot: RFOX2_HUMAN, O43251
    Similarity: Contains 1 RRM (RNA recognition motif) domain


    Find genes that share domains with RBFOX2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RFOX2_HUMAN, O43251
    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): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0003714transcription corepressor activity IDA11875103
    GO:0003723RNA binding IDA11875103
    GO:0003729mRNA binding IEA--
         
    Find genes that share ontologies with RBFOX2           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for RBFOX2:
     Decreased homologous recombina  G0/1 arrest  Increased G1 DNA content 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Rbfox2):
     behavior/neurological  cellular  growth/size/body  mortality/aging  nervous system 

    Find genes that share phenotypes with RBFOX2           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RBFOX2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RBFOX2
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    miRNA
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    miRTarBase miRNAs that target RBFOX2:
    hsa-mir-186-5p (MIRT045228), hsa-mir-9-5p (MIRT021475), hsa-mir-320d (MIRT007148), hsa-mir-30a-5p (MIRT028661), hsa-let-7a-5p (MIRT052619), hsa-mir-498 (MIRT007149), hsa-let-7b-5p (MIRT032498), hsa-mir-32-5p (MIRT028355)

    Block miRNA regulation of human, mouse, rat RBFOX2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RBFOX2 (see all 172):
    hsa-miR-520f hsa-miR-3916 hsa-miR-877* hsa-miR-1273d hsa-miR-637 hsa-miR-508-5p hsa-miR-200b hsa-miR-4326
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Predesigned siRNA for gene silencing in human, mouse, rat RBFOX2

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RFOX2_HUMAN, O43251: Nucleus. Cytoplasm (By similarity)

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--

    Find genes that share ontologies with RBFOX2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RBFOX2
    Interactions:

        Search GeneGlobe Interaction Network for RBFOX2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for RBFOX2 (O432511, 2, 3 ENSP000004130354) via UniProtKB, MINT, STRING, and/or I2D (see all 58)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN1P542531, 2, 3, ENSP000002447694EBI-746056,EBI-930964 MINT-2871171 MINT-2871190 MINT-2871209 MINT-2871228 MINT-2871247 MINT-2855267 I2D: score=3 STRING: ENSP00000244769
    RBFOX1Q9NWB11, 2, 3, ENSP000003091174EBI-746056,EBI-945906 MINT-2855841 MINT-2871133 I2D: score=3 STRING: ENSP00000309117
    RBPMSQ930622, 3, ENSP000003401764MINT-67895 I2D: score=5 STRING: ENSP00000340176
    RHOXF2Q9BQY42, 3, ENSP000003604414MINT-66778 I2D: score=5 STRING: ENSP00000360441
    DMRTB1Q96MA12, 3, ENSP000003605004MINT-67864 I2D: score=4 STRING: ENSP00000360500
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000381regulation of alternative mRNA splicing, via spliceosome ISS--
    GO:0006397mRNA processing IEA--
    GO:0008380RNA splicing IEA--
    GO:0010724regulation of definitive erythrocyte differentiation IEA--
    GO:0016070RNA metabolic process TAS11875103

    Find genes that share ontologies with RBFOX2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RBFOX2 (RFOX2)

    1 Novoseek inferred chemical compound relationship for RBFOX2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leucine 41.3 5 17392367 (1), 12610155 (1)



    Find genes that share compounds with RBFOX2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for RBFOX2 gene (6 alternative transcripts): 
    NM_001031695.2  NM_001082576.1  NM_001082577.1  NM_001082578.1  NM_001082579.1  NM_014309.2  

    Unigene Cluster for RBFOX2:

    RNA binding protein, fox-1 homolog (C. elegans) 2
    Hs.282998  [show with all ESTs]
    Unigene Representative Sequence: NM_001031695
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000405409(uc021wok.1 uc003aol.4 uc003aoj.4 uc003aok.4 uc003aoh.4 uc003aom.4 uc010gwu.3 uc003aon.4 uc003aoo.4)
    ENST00000414461 ENST00000449924 ENST00000262829 ENST00000397303 ENST00000359369
    ENST00000463509 ENST00000416721 ENST00000495377 ENST00000438146 ENST00000473487
    ENST00000408983 ENST00000491982 ENST00000397305
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate RBFOX2 (see all 172):
    hsa-miR-520f hsa-miR-3916 hsa-miR-877* hsa-miR-1273d hsa-miR-637 hsa-miR-508-5p hsa-miR-200b hsa-miR-4326
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      QuantiFast Probe-based Assays in human, mouse, rat RBFOX2

    Additional mRNA sequence: 

    AB649123.1 AF229058.1 AK055213.1 AK057055.1 AK091398.1 AK130730.1 AK291460.1 AK314632.1 
    AL009266.1 AL832604.2 AM419009.1 AY072786.1 AY960684.1 BC013115.1 BC025281.1 CR456559.1 
    DQ778625.1 

    Selected DOTS entries (see all 28):

    DT.100797633  DT.97854063  DT.456414  DT.456415  DT.70105120  DT.120656013  DT.100797637  DT.95175094 
    DT.100797638  DT.95175103  DT.91743645  DT.120656014  DT.100809885  DT.91743647  DT.91743648  DT.100024752 
    DT.100797634  DT.308768  DT.95241100  DT.100672248  DT.120656248  DT.120656278  DT.308769  DT.40249057 

    Selected AceView cDNA sequences (see all 559):

    AI073621 BF589573 AA400384 BI917720 BU686396 AI128812 F03257 F12503 
    BF934270 AA022615 F08873 BM670051 AK130730 AW008158 BM975372 BP362546 
    AW043849 AW664341 R34278 AA676678 BF445630 F07933 AI694432 AX747134 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RBFOX2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTAATGAAGC
    RBFOX2 Expression
    About this image


    RBFOX2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Bone (Muscoskeletal System)
             Bone Marrow
    RBFOX2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RBFOX2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.282998
        Custom PCR Arrays for RBFOX2
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    QuantiFast Probe-based Assays in human, mouse, rat RBFOX2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RBFOX2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for RBFOX2 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rbfox21 , 5 RNA binding protein, fox-1 homolog (C. elegans) 21, 5 93.29(n)1
    97.69(a)1
      15 (36.40 cM)5
    936861  NM_053104.61  NP_444334.31 
     770789905 
    chicken
    (Gallus gallus)
    Aves RBFOX21 RNA binding protein, fox-1 homolog (C. elegans) 2 85.39(n)
    93.28(a)
      418055  XM_004937780.1  XP_004937837.1 
    lizard
    (Anolis carolinensis)
    Reptilia RBFOX26
    RNA binding protein, fox-1 homolog (C. elegans) 2
    87(a)
    1 ↔ 1
    5(21806633-22040137)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.146362 Xenopus laevis transcribed sequence with weak similarity more 74.84(n)    CD301062.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rbfox26
    RNA binding protein, fox-1 homolog (C. elegans) 2
    74(a)
    1 ↔ 1
    6(271848-295086) ENSDARG00000052182
    fruit fly
    (Drosophila melanogaster)
    Insecta A2bp16
    Ataxin-2 binding protein 1
    16(a)
    1 → many
    3L(10474512-10587112)
    worm
    (Caenorhabditis elegans)
    Secernentea fox-16
    asd-16
    (see all 3)
    Protein FOX-1 (fox-1) mRNA, complete cds
    Protein ASD-1, isoform a (asd-1) mRNA, complete cd...
    (see all 3)
    27(a)
    24(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    X(2445500-2450504) WBGene00001484
    III(4197285-4202289) WBGene00011279


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RBFOX2 gene
    RBFOX32  RBFOX12  
    9 SIMAP similar genes for RBFOX2 using alignment to 7 protein entries:     RFOX2_HUMAN (see all proteins):
    RBM9    DKFZp547L059    RBFOX1    A2BP1    RBFOX3    DAZL
    RBMY1A1    RBM38    SRSF5

    Find genes that share paralogs with RBFOX2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RBFOX2 (see all 4590)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1382358341,2
    C--19101844(+) GCAGCC/TGGAGA 6 -- ds50010--------
    rs59999991,2
    C,F,A,H--19101887(+) AGGGAA/CATAAC 6 -- ds500123Minor allele frequency- C:0.26NS EA NA WA CSA 2585
    rs1868292251,2
    --19101961(+) GCAGCA/GGTTGA 6 -- ds50010--------
    rs1427503801,2
    --19101995(+) AGAAGG/TGAAGC 6 -- ds50010--------
    rs72856271,2
    C,F,A,H--19102089(+) GGCTTC/ATCATC 6 -- ds50012Minor allele frequency- A:0.00NS WA 238
    rs72854961,2
    C,F,A--19102105(+) TTAGAA/GCGTCT 6 -- ds50014Minor allele frequency- G:0.44WA CSA 124
    rs1125743581,2
    C,F--19102108(+) GAACGC/TCTCAC 6 -- ds50011Minor allele frequency- T:0.50CSA 2
    rs130548681,2
    C,F--19102129(+) CTGGCA/GCTTTT 6 -- ds50012Minor allele frequency- G:0.15NA 122
    rs1391595081,2
    --19102144(+) CTTGT-/CCCCCC 6 -- ds50010--------
    rs9267551,2
    C,F,A,H--19102152(+) CCCCCG/TCCCCC 6 -- ds500115Minor allele frequency- T:0.50NS EA WA CSA 1983

    HapMap Linkage Disequilibrium report for RBFOX2 (36134783 - 36384783 bp, first 250kb of RBFOX2)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for RBFOX2 (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2724188CNV Deletion23290073
    esv2423870CNV Deletion19546169
    esv2663753CNV Deletion23128226
    esv2654054CNV Deletion19546169
    nsv3614CNV Insertion18451855
    nsv3613CNV Insertion18451855
    nsv3612CNV Insertion18451855
    nsv915003CNV Loss21882294
    nsv915002CNV Loss21882294
    nsv483105CNV Loss15286789

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RBFOX2
    DNA2.0 Custom Variant and Variant Library Synthesis for RBFOX2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612149    OMIM disorders: --

    1 disease for RBFOX2:    
    About MalaCards
    kaposi's sarcoma


    Find genes that share disorders with RBFOX2           About GenesLikeMe

    1 Novoseek inferred disease relationship for RBFOX2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    kaposi sarcoma 53 1 12915555 (1)

    Genetic Association Database (GAD): RBFOX2

    Export disorders for RBFOX2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for RBFOX2 gene, integrated from 10 sources (see all 54):
    (articles sorted by number of sources associating them with RBFOX2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    3. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
    4. Reevaluating human gene annotation: a second-generation analysis of chromosome 22. (PubMed id 12529303)1, 2 Collins J.E.... Dunham I. (Genome Res. 2003)
    5. A negative coregulator for the human ER. (PubMed id 11875103)1, 2 Norris J.D.... McDonnell D.P. (Mol. Endocrinol. 2002)
    6. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I.... Wright H. (Nature 1999)
    7. Defining the regulatory network of the tissue-specific splicing factors Fox-1 and Fox-2. (PubMed id 18794351)1, 9 Zhang C....Zhang M.Q. (amp 2008)
    8. VCP phosphorylation-dependent interaction partners prevent apoptosis in Helicobacter pylori-infected gastric epithelial cells. (PubMed id 23383273)1 Yu C.C....Chow L.P. (PLoS ONE 2013)
    9. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    10. Development and application of a DNA microarray-based yeast two-hybrid system. (PubMed id 23275563)1 Suter B....Wanker E.E. (Nucleic Acids Res. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23543 HGNC: 9906 AceView: RBM9 Ensembl:ENSG00000100320 euGenes: HUgn23543
    ECgene: RBFOX2 H-InvDB: RBFOX2

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for RBFOX2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RBFOX2 gene:
    Search GeneIP for patents involving RBFOX2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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