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FLASH GENE
Symbol ESRP2 contributors: mct - updated : 27-04-2018
HGNC name epithelial splicing regulatory protein 2
HGNC id 26152
Location 16q22.1      Physical location : 68.262.449 - 68.270.136
Synonym name
  • RNA-binding motif protein 35B
  • RNA-binding protein 35B
    • Synonym symbol(s) RBM35B
    DNA
    TYPE functioning gene
    STRUCTURE 7.69 kb     15 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 4021 - 717 - 2009 19829082
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthpalate    Homo sapiensFetal
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier lining    Homo sapiensFetal
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    intraspecies paralog to ESRP1
    Homologene
    FAMILY
    CATEGORY
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • ESRP1 and ESRP2 are coordinators of an epithelial cell-type-specific splicing program
  • ESRP1 and ESRP2 are cell-type-specific regulators of transcripts that switch splicing during the epithelial-mesenchymal transition (EMT)
  • regulator of epithelial mRNA splicing
  • ESRP1 and ESRP2 regulate alternative splicing events associated with epithelial phenotypes of cells, and both are down-regulated during the epithelial-mesenchymal transition
  • ESRP1 and ESRP2 are required for mammalian development, including establishment of epidermal barrier functions
  • ESRP1 and ESRP2 control the epithelial-to-mesenchymal transition (EMT) splicing program in cancer
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ablation of ESRP1 and ESRP2 impairs epithelial tight junction (TJ) integrity through loss of the epithelial isoform of Rho GTP exchange factor ARHGEF11
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    of ESRP1 and ESRP2 is thus closely associated with a motile phenotype of cancer cells
    tumoral     --over  
    in primary prostate cancer
    Susceptibility to Non-Syndromic Cleft Lip with or without Cleft Palate (NS-CL/P)
    Variant & Polymorphism other
  • pathogenic variants identified in PLEKHA5 in cases of NS-CL/P
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS