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FLASH GENE
Symbol IRF2BPL contributors: mct - updated : 11-09-2018
HGNC name interferon regulatory factor 2 binding protein like
HGNC id 14282
Corresponding disease
NEDAMSS neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
Location 14q24.3      Physical location : -
Genatlas name enhanced at puberty 1
Synonym name
  • chromosome 14 open reading frame 4
  • Synonym symbol(s) KIAA1865, EAP1, C14orf4
    DNA
    TYPE functioning gene
    STRUCTURE 4.15 kb     1 Exon(s)
    regulatory sequence cytosine-phosphate-guanine/HTF
    Binding site
    motif repetitive sequence
    text structure
  • intronless
  • polyglutamine repeat
  • CREB and A2P binding sites
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 4166 82.5 796 - 2018 30057031
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   predominantly
    Nervousbrainhindbraincerebellum   Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral    Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • proline-rich protein
  • a coiled-coil DNA binding domain (IRF2BP zinc finger domain) at the N- terminus
  • several putative PEST (proline, glutamic acid, serine, and threonine-rich) sequences
  • a C3HC4 ring finger domain at the C terminus
  • C-terminal RING-finger domain common to E3 ubiquitin ligases
  • HOMOLOGY
    interspecies ortholog to Drosophila Pits
    intraspecies paralog to IRF2BP1, IRF2BP2
    Homologene
    FAMILY
  • IRF2BP family of transcriptional regulators
  • CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • IRF2BP1 and EAP1 (enhanced at puberty 1) are important components of the DIF-1 complex mediating both complex stability and transcriptional repression
  • regulates the onset of puberty through a network of hypothalamic genes
  • role for IRF2BPL in the functional and structural maintenance of the nervous system
  • plays a role in both development and neuronal maintenance
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction of IRF2BP2, IRF2BP1, and EAP1 occurs through the conserved C4 zinc fingers of these proteins, and forms DIF-1 complex
  • its expression critically regulates puberty as well as GNRH1 expression
  • FOXF2 directly bound the promoter of E3 ligase interferon regulatory factor 2-binding protein-like (IRF2BPL) and induced its transcriptional expression
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NEDAMSS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS