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Symbol RBFOX2 contributors: shn/npt - updated : 16-09-2016
HGNC name RNA binding protein, fox-1 homolog (C. elegans) 2
HGNC id 9906
Location 22q12.3      Physical location : 36.134.783 - 36.424.585
Synonym name
  • hexaribonucleotide binding protein 2
  • repressor of tamoxifen transcriptional activity
  • Fox-2 homolog
  • RNA binding motif protein 9
  • Synonym symbol(s) HRNBP2, FOX2, RTA, fxh, Fox-2, dJ106I20.3, RBM9, RP1-41P2.9, Fox-2, HNRBP2
    TYPE functioning gene
    SPECIAL FEATURE head to head
    STRUCTURE 289.80 kb     12 Exon(s)
    MAPPING cloned Y linked   status provisional
    Map cen - D22S1265 - D22S424 - RBM9 - D22S277 - D22S1142 - qter
    TRANSCRIPTS type messenger
    text Multiple transcript variants encoding different isoforms
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 6997 - 380 - 2006 16537540
    13 - 6985 - 376 - 2006 16537540
    12 - 6957 - 370 - 2006 16537540
    14 - 6957 - 451 - 2006 16537540
    14 - 6954 - 450 High expression in mouse brain, expressed in both the cerebellum and olfactory mouse neurons 2006 16537540
    12 - 6948 - 367 - 2006 16537540
    Type ubiquitous
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly Homo sapiens
    Digestiveliver   moderately
    Endocrinepancreas   moderately
    Nervousnerve     Homo sapiens
    Skeleton    moderately
    Urinarykidney   moderately
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal   Homo sapiens
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage highly expressed in the nuclei of pluripotent human embryonic stem cells (hESCs)
    cell lines abundantly expressed in the hESC lines HUES6, H9 and in neural progenitors
    at STAGE
    physiological period embryo
    Text in embryo, hematopoietic cells and embryonic stem cells
  • a RRM (RNA recognition motif) domain
  • two ribonucleoprotein domains
  • an N-terminal glutamine-rich domain
  • a C-terminal alanine-rich domain
  • several putative RNA-binding arginine/glycine-rich (RGG) boxes
    interspecies ortholog to Rbm9, Mus musculus
    ortholog to Rbm9, Rattus norvegicus
    ortholog to RBM9, Pan tranglodytes
    intraspecies homolog to RBFOX1, RBFOX3
    CATEGORY regulatory , RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    basic FUNCTION
  • a key regulator of alternative exon splicing in the nervous system and other cell types
  • may be acting as a coregulatory factor of ESR1
  • potentially involved in RNA distribution and splicing
  • playing a role in mediating the neuronal pathway of calcitonin/calcitonin gene-related peptide alternative RNA processing
  • play an important role in determining tissue specificity of UGCAUG-mediated alternative splicing
  • acts as an RNA-binding protein that functions as potent repressor of steroid receptor-mediated transcriptional activity
  • functions as a critical regulator of a splicing network,
  • and has a vital role in the biology of human embryonic stem cells
  • RBFOX1, RBFOX2 potent regulators of alternative splicing in the heart, skeletal muscle, and brain, repress calcitonin-specific splicing of the calcitonin/CGRP pre-mRNA
  • may have a crucial role in establishing and
  • maintaining the splicing and signaling programs in hESCs
  • may function as an upstream regulator of many general and tissuespecific splicing regulators
  • RBFOX1 and RBFOX2 are not fully redundant in their neuronal functions
  • controls a post-transcriptional program required for proper brain development
  • is subsequently required with RBFOX1 to maintain mature neuronal physiology, specifically Purkinje cell pacemaking, through their shared control of sodium channel transcript splicing
  • is an important driver of mesenchymal tissue-specific splicing
  • MBNL1 and RBFOX2 cooperate to establish a splicing programme involved in pluripotent stem cell differentiation
  • cross-regulates alternative splicing-coupled nonsense-mediated decay (AS-NMD) events within RNA-binding proteins to alter their expression
  • RBFOX2-coordinated alternative splicing of MEF2D and ROCK2 controls myoblast fusion during myogenesis
  • RNA-binding protein involved in tissue specific alternative splicing regulation and steroid receptors transcriptional activity
  • RBFOX2 isoform distribution may play a fundamental role in RBFOX2-specific cellular effects
  • new role for RBFOX1, RBFOX2 proteins in regulating myogenesis through activation of essential muscle-specific splicing events
  • CELLULAR PROCESS nucleotide, RNA splicing
    text regulates alternative splicing events by binding to 5'-UGCAUGU-3' elements
    a component
    RNA FOX2 binds within the FOX2 premRNA itself
    small molecule
  • estrogen receptor 1 transcription factor and regulates estrogen receptor 1 transcriptional activity
  • estrogen receptor 1 (ESR1) and estrogen receptor 2 (ESR2)
  • ataxin 1 (ATXN1)
  • plays an integral role in the regulation of PLOD2 splicing splicing
  • RBFOX3 regulates alternative splicing of the RBFOX2 pre-mRNA, producing a message encoding a dominant negative form of the RBFOX2 protein
  • RBFOX2, RBFOX1 specifically bind the RNA element UGCAUG, and regulate alternative splicing positively or negatively in a position-dependent manner
  • HNRNPH1 and TFG modulate the splicing activity of RBFOX1/2, whereas RALY had no effect
  • HNRNPH1, RALY, and TFG are proteins that specifically interact with the C-terminal domain of RBFOX1 and RBFOX2
  • MEF2D and ROCK2 are RBFOX2 splicing targets
  • direct and specific RBFOX1 and RBFOX2 binding to MEF2D pre-mRNA
  • RBFOX1, RBFOX2, RBFOX3 regulates alternative pre-mRNA splicing in various tissues via direct binding to their RNA binding element
  • interactions between histone proteins and splicing factors such as RBFOX2, RBFOX3, and splicing factor proline and glutamine rich protein (SFPQ)
  • cell & other
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    activates splicing of neuronally regulated exons
    Variant & Polymorphism
    Candidate gene
    Therapy target